#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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ZBTB40	9923	broad.mit.edu	37	1	22828886	22828886	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr1:22828886G>T	ENST00000375647.4	+	5	1326	c.1119G>T	c.(1117-1119)gaG>gaT	p.E373D	ZBTB40_ENST00000374651.4_Intron|ZBTB40_ENST00000404138.1_Missense_Mutation_p.E373D	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	373					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CTATTATGGAGTCCCTGGAAA	0.473																																						ENST00000404138.1																			0				endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						c.(1117-1119)gaG>gaT		zinc finger and BTB domain containing 40							116.0	104.0	108.0					1																	22828886		2203	4300	6503	SO:0001583	missense	9923				bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:22828886G>T	AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.1119G>T	1.37:g.22828886G>T	ENSP00000364798:p.Glu373Asp					ZBTB40_ENST00000374651.4_Intron|ZBTB40_ENST00000375647.4_Missense_Mutation_p.E373D	p.E373D	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)	6	1630	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	373					O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	ENST00000375647.4	37	c.1119G>T	CCDS224.1	.	.	.	.	.	.	.	.	.	.	G	17.68	3.449938	0.63290	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000400239	T;T;T	0.45276	2.37;2.37;0.9	5.8	4.88	0.63580	.	0.000000	0.52532	D	0.000064	T	0.53642	0.1809	L	0.36672	1.1	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.54754	-0.8246	10	0.87932	D	0	-23.5839	13.9187	0.63916	0.0746:0.0:0.9254:0.0	.	373	Q9NUA8	ZBT40_HUMAN	D	373	ENSP00000384527:E373D;ENSP00000364798:E373D;ENSP00000383098:E373D	ENSP00000364798:E373D	E	+	3	2	ZBTB40	22701473	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.363000	0.44178	2.758000	0.94735	0.561000	0.74099	GAG		0.473	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008094.1	NM_014870		6	122	6	122	---	---	---	---
ARID1A	8289	broad.mit.edu	37	1	27105656	27105656	+	Missense_Mutation	SNP	C	C	G			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr1:27105656C>G	ENST00000324856.7	+	20	5638	c.5267C>G	c.(5266-5268)cCa>cGa	p.P1756R	ARID1A_ENST00000457599.2_Missense_Mutation_p.P1539R|ARID1A_ENST00000540690.1_Missense_Mutation_p.P84R|ARID1A_ENST00000374152.2_Missense_Mutation_p.P1373R	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1756					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTGTCTAGTCCAGCTCCCATG	0.478			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(5266-5268)cCa>cGa		AT rich interactive domain 1A (SWI-like)							78.0	81.0	80.0					1																	27105656		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27105656C>G	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.5267C>G	1.37:g.27105656C>G	ENSP00000320485:p.Pro1756Arg					ARID1A_ENST00000374152.2_Missense_Mutation_p.P1373R|ARID1A_ENST00000457599.2_Missense_Mutation_p.P1539R|ARID1A_ENST00000540690.1_Missense_Mutation_p.P84R	p.P1756R	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	5638	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	1756					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.5267C>G	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.615857	0.46631	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	T;T;T;T	0.09350	4.55;4.36;4.36;2.99	5.06	5.06	0.68205	.	0.537042	0.22395	N	0.060625	T	0.10208	0.0250	L	0.29908	0.895	0.38198	D	0.940111	P;P;P	0.49090	0.706;0.851;0.919	B;B;B	0.41619	0.225;0.191;0.361	T	0.32955	-0.9887	10	0.16420	T	0.52	-5.4959	18.9709	0.92715	0.0:1.0:0.0:0.0	.	1373;1756;1539	O14497-3;O14497;O14497-2	.;ARI1A_HUMAN;.	R	1756;1539;1373;84	ENSP00000320485:P1756R;ENSP00000387636:P1539R;ENSP00000363267:P1373R;ENSP00000442437:P84R	ENSP00000320485:P1756R	P	+	2	0	ARID1A	26978243	0.995000	0.38212	1.000000	0.80357	0.910000	0.53928	3.346000	0.52190	2.791000	0.96007	0.591000	0.81541	CCA		0.478	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		11	134	11	134	---	---	---	---
NBPF10	100132406	broad.mit.edu	37	1	145302833	145302833	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr1:145302833G>T	ENST00000369339.3	+	5	711	c.458G>T	c.(457-459)aGa>aTa	p.R153I	NBPF10_ENST00000342960.5_Missense_Mutation_p.R424I|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000369338.1_Missense_Mutation_p.R153I			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	424						cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		GAGGGGTGTAGACTGGCACAG	0.572																																						ENST00000342960.5																			0				NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73						c.(1270-1272)aGa>aTa		neuroblastoma breakpoint family, member 10																																				SO:0001583	missense	100132406							g.chr1:145302833G>T	BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.458G>T	1.37:g.145302833G>T	ENSP00000358345:p.Arg153Ile					NBPF10_ENST00000369339.3_Missense_Mutation_p.R153I|NBPF10_ENST00000369338.1_Missense_Mutation_p.R153I|RP11-458D21.5_ENST00000468030.1_3'UTR	p.R424I	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN		Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	8	1306	+	all_hematologic(923;0.032)		424					Q5RHC0|Q9NWN6	Missense_Mutation	SNP	ENST00000369339.3	37	c.1271G>T		.	.	.	.	.	.	.	.	.	.	.	12.19	1.862603	0.32884	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	T;T	0.51071	0.72;3.87	0.712	0.712	0.18167	.	.	.	.	.	T	0.49287	0.1548	M	0.68593	2.085	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.24048	-1.0171	8	0.62326	D	0.03	.	.	.	.	.	153	A8MQ30	.	I	349;153;153;424	ENSP00000358344:R153I;ENSP00000345684:R424I	ENSP00000345684:R424I	R	+	2	0	NBPF10	144014190	0.001000	0.12720	0.002000	0.10522	0.024000	0.10985	0.305000	0.19254	0.672000	0.31204	0.409000	0.27619	AGA		0.572	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	protein_coding	OTTHUMT00000038550.3	NM_001039703		5	249	5	249	---	---	---	---
EPRS	2058	broad.mit.edu	37	1	220213574	220213574	+	Silent	SNP	G	G	A			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr1:220213574G>A	ENST00000366923.3	-	2	353	c.84C>T	c.(82-84)gtC>gtT	p.V28V		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	28					cellular response to interferon-gamma (GO:0071346)|gene expression (GO:0010467)|glutamyl-tRNA aminoacylation (GO:0006424)|negative regulation of translation (GO:0017148)|prolyl-tRNA aminoacylation (GO:0006433)|protein complex assembly (GO:0006461)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|GAIT complex (GO:0097452)|membrane (GO:0016020)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|glutamate-tRNA ligase activity (GO:0004818)|proline-tRNA ligase activity (GO:0004827)|RNA stem-loop binding (GO:0035613)			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Proline(DB00172)	CGGAAATGCTGACATCGTCTT	0.303																																						ENST00000366923.3																			0				breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63						c.(82-84)gtC>gtT		glutamyl-prolyl-tRNA synthetase	L-Glutamic Acid(DB00142)|L-Proline(DB00172)						103.0	111.0	109.0					1																	220213574		2203	4300	6503	SO:0001819	synonymous_variant	2058				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding	g.chr1:220213574G>A	X54326	CCDS31027.1	1q41	2011-07-01			ENSG00000136628	ENSG00000136628	6.1.1.15, 6.1.1.17	"""Aminoacyl tRNA synthetases / Class I"", ""Aminoacyl tRNA synthetases / Class II"""	3418	protein-coding gene	gene with protein product	"""glutamate tRNA ligase"", ""proline tRNA ligase"""	138295		QPRS, QARS		1988429	Standard	NM_004446		Approved	EARS, PARS, GLUPRORS	uc001hly.1	P07814	OTTHUMG00000037433	ENST00000366923.3:c.84C>T	1.37:g.220213574G>A							p.V28V	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN		GBM - Glioblastoma multiforme(131;0.0735)	2	353	-			28					A0AVA9|B9EGH3|Q05BP6|Q05DF8|Q5DSM1|Q5H9S5|Q6PD57|Q86X73	Silent	SNP	ENST00000366923.3	37	c.84C>T	CCDS31027.1																																																																																				0.303	EPRS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091133.2	NM_004446		7	150	7	150	---	---	---	---
NCL	4691	broad.mit.edu	37	2	232320221	232320221	+	Silent	SNP	A	A	G			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr2:232320221A>G	ENST00000322723.4	-	13	2187	c.1947T>C	c.(1945-1947)ggT>ggC	p.G649G	SNORD20_ENST00000384550.1_RNA|SNORA75_ENST00000384158.1_RNA	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	649	Arg/Gly/Phe-rich.				angiogenesis (GO:0001525)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)	cell cortex (GO:0005938)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)|telomeric DNA binding (GO:0042162)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		AGCCACCTTCACCCTTAGGTT	0.577																																						ENST00000322723.4																			0				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35						c.(1945-1947)ggT>ggC		nucleolin							205.0	217.0	213.0					2																	232320221		2203	4300	6503	SO:0001819	synonymous_variant	4691				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding	g.chr2:232320221A>G		CCDS33397.1	2q37.1	2013-09-19			ENSG00000115053	ENSG00000115053		"""RNA binding motif (RRM) containing"""	7667	protein-coding gene	gene with protein product		164035				2394707, 3409881	Standard	NM_005381		Approved	C23	uc002vru.3	P19338	OTTHUMG00000153866	ENST00000322723.4:c.1947T>C	2.37:g.232320221A>G							p.G649G	NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)	13	2187	-		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)	649			Arg/Gly/Phe-rich.		Q53SK1|Q8NB06|Q9UCF0|Q9UDG1	Silent	SNP	ENST00000322723.4	37	c.1947T>C	CCDS33397.1																																																																																				0.577	NCL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332731.1	NM_005381		39	413	39	413	---	---	---	---
GPR171	29909	broad.mit.edu	37	3	150917004	150917004	+	Missense_Mutation	SNP	A	A	C			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr3:150917004A>C	ENST00000309180.5	-	3	400	c.170T>G	c.(169-171)cTt>cGt	p.L57R	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	57					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATCGGCTGTAAGCAAATTAAT	0.403																																						ENST00000309180.5																			0				endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15						c.(169-171)cTt>cGt		G protein-coupled receptor 171							84.0	82.0	82.0					3																	150917004		2203	4300	6503	SO:0001583	missense	29909					integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr3:150917004A>C	AF002986	CCDS3155.1	3q25.1	2012-08-21			ENSG00000174946	ENSG00000174946		"""GPCR / Class A : Orphans"""	30057	protein-coding gene	gene with protein product	"""platelet activating receptor homolog"""					9370294	Standard	NM_013308		Approved	H963	uc003eyq.4	O14626	OTTHUMG00000159861	ENST00000309180.5:c.170T>G	3.37:g.150917004A>C	ENSP00000308479:p.Leu57Arg					MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	p.L57R	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		3	400	-			57					D3DNJ4|Q8IV06	Missense_Mutation	SNP	ENST00000309180.5	37	c.170T>G	CCDS3155.1	.	.	.	.	.	.	.	.	.	.	A	14.35	2.509565	0.44660	.	.	ENSG00000174946	ENST00000309180	T	0.37752	1.18	5.27	5.27	0.74061	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000004	T	0.53578	0.1805	L	0.46157	1.445	0.41667	D	0.989211	D	0.76494	0.999	D	0.77557	0.99	T	0.57476	-0.7805	10	0.87932	D	0	-14.5616	15.2186	0.73292	1.0:0.0:0.0:0.0	.	57	O14626	GP171_HUMAN	R	57	ENSP00000308479:L57R	ENSP00000308479:L57R	L	-	2	0	GPR171	152399694	1.000000	0.71417	0.674000	0.29902	0.295000	0.27426	6.607000	0.74163	1.997000	0.58415	0.533000	0.62120	CTT		0.403	GPR171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357793.1	NM_013308		4	124	4	124	---	---	---	---
MECOM	2122	broad.mit.edu	37	3	168807797	168807797	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr3:168807797G>T	ENST00000464456.1	-	13	4001	c.2801C>A	c.(2800-2802)tCc>tAc	p.S934Y	MECOM_ENST00000460814.1_Missense_Mutation_p.S934Y|MECOM_ENST00000392736.3_Missense_Mutation_p.S943Y|MECOM_ENST00000494292.1_Missense_Mutation_p.S1122Y|MECOM_ENST00000472280.1_Missense_Mutation_p.S944Y|MECOM_ENST00000468789.1_Missense_Mutation_p.S943Y|MECOM_ENST00000433243.2_Missense_Mutation_p.S944Y|MECOM_ENST00000264674.3_Missense_Mutation_p.S1008Y	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0					regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CCTCACTGGGGATGTCTTGCA	0.428																																						ENST00000464456.1																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						c.(2800-2802)tCc>tAc		MDS1 and EVI1 complex locus							182.0	172.0	175.0					3																	168807797		2203	4300	6503	SO:0001583	missense	2122						sequence-specific DNA binding transcription factor activity	g.chr3:168807797G>T	S82592, AF164154	CCDS3205.1, CCDS54669.1, CCDS54670.1	3q26.2	2013-01-08	2009-08-07	2009-08-07	ENSG00000085276	ENSG00000085276		"""Zinc fingers, C2H2-type"""	3498	protein-coding gene	gene with protein product		165215	"""myelodysplasia syndrome 1"", ""ecotropic viral integration site 1"""	MDS1, EVI1		2115646, 8171026, 8643684	Standard	NM_001105077		Approved	MDS1-EVI1, PRDM3	uc011bpj.1	Q03112	OTTHUMG00000158596	ENST00000464456.1:c.2801C>A	3.37:g.168807797G>T	ENSP00000419770:p.Ser934Tyr					MECOM_ENST00000468789.1_Missense_Mutation_p.S943Y|MECOM_ENST00000460814.1_Missense_Mutation_p.S934Y|MECOM_ENST00000392736.3_Missense_Mutation_p.S943Y|MECOM_ENST00000494292.1_Missense_Mutation_p.S1122Y|MECOM_ENST00000472280.1_Missense_Mutation_p.S944Y|MECOM_ENST00000264674.3_Missense_Mutation_p.S1008Y|MECOM_ENST00000433243.2_Missense_Mutation_p.S944Y	p.S934Y	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN			13	4001	-			0					Q13466|Q6FH90	Missense_Mutation	SNP	ENST00000464456.1	37	c.2801C>A	CCDS54669.1	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571215	0.45798	.	.	ENSG00000085276	ENST00000264674;ENST00000392736;ENST00000464456;ENST00000472280;ENST00000494292;ENST00000468789;ENST00000460814;ENST00000433243	T;T;T;T;T;T;T;T	0.06294	3.37;3.37;3.32;3.47;3.32;3.37;3.33;3.47	5.46	5.46	0.80206	.	0.354215	0.25425	N	0.030763	T	0.18923	0.0454	L	0.36672	1.1	0.54753	D	0.999985	D;D;P;D;D	0.76494	0.999;0.999;0.86;0.999;0.999	D;D;B;D;D	0.73380	0.952;0.98;0.196;0.964;0.956	T	0.00478	-1.1715	10	0.87932	D	0	-9.6655	19.3056	0.94161	0.0:0.0:1.0:0.0	.	1131;935;1122;1008;943	Q03112-3;Q03112-6;E7EQ57;Q03112-4;Q03112	.;.;.;.;EVI1_HUMAN	Y	1008;943;934;944;1122;943;934;944	ENSP00000264674:S1008Y;ENSP00000376493:S943Y;ENSP00000419770:S934Y;ENSP00000420048:S944Y;ENSP00000417899:S1122Y;ENSP00000419995:S943Y;ENSP00000420466:S934Y;ENSP00000394302:S944Y	ENSP00000264674:S1008Y	S	-	2	0	MECOM	170290491	1.000000	0.71417	0.617000	0.29091	0.060000	0.15804	7.938000	0.87678	2.565000	0.86533	0.650000	0.86243	TCC		0.428	MECOM-020	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351519.1	NM_005241, NM_004991		5	122	5	122	---	---	---	---
SFRP2	6423	broad.mit.edu	37	4	154709577	154709577	+	Silent	SNP	G	G	A			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr4:154709577G>A	ENST00000274063.4	-	1	695	c.411C>T	c.(409-411)ccC>ccT	p.P137P		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	137	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				bone morphogenesis (GO:0060349)|brain development (GO:0007420)|cardiac left ventricle morphogenesis (GO:0003214)|cell-cell signaling (GO:0007267)|cellular response to extracellular stimulus (GO:0031668)|cellular response to X-ray (GO:0071481)|chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|convergent extension involved in axis elongation (GO:0060028)|digestive tract morphogenesis (GO:0048546)|embryonic digit morphogenesis (GO:0042733)|gonad development (GO:0008406)|hematopoietic stem cell proliferation (GO:0071425)|male gonad development (GO:0008584)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dermatome development (GO:0061185)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of gene expression (GO:0010629)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|outflow tract morphogenesis (GO:0003151)|patterning of blood vessels (GO:0001569)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-anal tail morphogenesis (GO:0036342)|regulation of stem cell division (GO:2000035)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|sclerotome development (GO:0061056)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endopeptidase activator activity (GO:0061133)|fibronectin binding (GO:0001968)|integrin binding (GO:0005178)|metalloenzyme activator activity (GO:0010577)|PDZ domain binding (GO:0030165)|receptor agonist activity (GO:0048018)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				CAAGCATGTCGGGCCAGGGGA	0.637																																						ENST00000274063.4																			0				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16						c.(409-411)ccC>ccT		secreted frizzled-related protein 2							80.0	85.0	83.0					4																	154709577		2203	4300	6503	SO:0001819	synonymous_variant	6423				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding	g.chr4:154709577G>A	AF017986	CCDS34082.1	4q31.3	2008-08-29			ENSG00000145423	ENSG00000145423		"""Secreted frizzled-related proteins"""	10777	protein-coding gene	gene with protein product		604157				9391078	Standard	NM_003013		Approved	SARP1, SDF-5, FRP-2	uc003inv.1	Q96HF1	OTTHUMG00000161559	ENST00000274063.4:c.411C>T	4.37:g.154709577G>A							p.P137P	NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN			1	695	-	all_hematologic(180;0.093)	Renal(120;0.117)	137			FZ.		B3KQR2|O14778|Q9HAP5	Silent	SNP	ENST00000274063.4	37	c.411C>T	CCDS34082.1																																																																																				0.637	SFRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365296.1			8	162	8	162	---	---	---	---
HSD17B4	3295	broad.mit.edu	37	5	118837734	118837734	+	Splice_Site	SNP	A	A	G			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr5:118837734A>G	ENST00000256216.6	+	14	1342		c.e14-1		HSD17B4_ENST00000509514.1_Splice_Site|HSD17B4_ENST00000414835.2_Splice_Site|HSD17B4_ENST00000504811.1_Splice_Site|HSD17B4_ENST00000515320.1_Splice_Site|HSD17B4_ENST00000513628.1_Splice_Site|HSD17B4_ENST00000510025.1_Splice_Site	NM_000414.3	NP_000405.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4						alpha-linolenic acid metabolic process (GO:0036109)|androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|estrogen metabolic process (GO:0008210)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|metabolic process (GO:0008152)|osteoblast differentiation (GO:0001649)|oxidation-reduction process (GO:0055114)|Sertoli cell development (GO:0060009)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)|very long-chain fatty-acyl-CoA metabolic process (GO:0036111)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	17-beta-hydroxysteroid dehydrogenase (NAD+) activity (GO:0044594)|3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity (GO:0033989)|isomerase activity (GO:0016853)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)		ACCCTAACATAGGTTCTTCAT	0.368																																					Colon(35;490 801 34689 41394 43344)	ENST00000504811.1																			0				breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25						c.e15-1		hydroxysteroid (17-beta) dehydrogenase 4	NADH(DB00157)						149.0	153.0	152.0					5																	118837734		2202	4300	6502	SO:0001630	splice_region_variant	3295				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	g.chr5:118837734A>G		CCDS4126.1, CCDS56378.1, CCDS56379.1	5q2	2011-09-20			ENSG00000133835	ENSG00000133835	4.2.1.107, 1.1.1.35	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	5213	protein-coding gene	gene with protein product	"""17beta-estradiol dehydrogenase type IV"", ""peroxisomal multifunctional protein 2"", ""17-beta-HSD IV"", ""17-beta-hydroxysteroid dehydrogenase 4"", ""D-bifunctional protein, peroxisomal"", ""D-3-hydroxyacyl-CoA dehydratase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholest-24-enoyl-CoA hydratase"", ""beta-keto-reductase"", ""beta-hydroxyacyl dehydrogenase"", ""short chain dehydrogenase/reductase family 8C, member 1"""	601860				8938456, 19027726	Standard	NM_000414		Approved	MFE-2, DBP, SDR8C1	uc003ksj.3	P51659	OTTHUMG00000128899	ENST00000256216.6:c.1210-1A>G	5.37:g.118837734A>G						HSD17B4_ENST00000515320.1_Splice_Site|HSD17B4_ENST00000256216.6_Splice_Site|HSD17B4_ENST00000509514.1_Splice_Site|HSD17B4_ENST00000414835.2_Splice_Site|HSD17B4_ENST00000513628.1_Splice_Site|HSD17B4_ENST00000510025.1_Splice_Site		NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	15	1468	+		all_cancers(142;0.0206)|Prostate(80;0.0322)						B4DNV1|B4DVS5|E9PB82|F5HE57	Splice_Site	SNP	ENST00000256216.6	37		CCDS4126.1	.	.	.	.	.	.	.	.	.	.	A	14.88	2.666398	0.47677	.	.	ENSG00000133835	ENST00000256216;ENST00000515320;ENST00000510025;ENST00000504811;ENST00000414835;ENST00000513628;ENST00000509514	.	.	.	5.05	5.05	0.67936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3778	0.60750	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HSD17B4	118865633	1.000000	0.71417	0.949000	0.38748	0.679000	0.39708	7.355000	0.79434	2.035000	0.60131	0.529000	0.55759	.		0.368	HSD17B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250863.3	NM_000414	Intron	9	143	9	143	---	---	---	---
FUCA2	2519	broad.mit.edu	37	6	143828561	143828561	+	Splice_Site	SNP	C	C	T			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr6:143828561C>T	ENST00000002165.6	-	2	280	c.225G>A	c.(223-225)tgG>tgA	p.W75*	RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000593045.1_RNA|RP1-20N2.6_ENST00000590703.1_RNA|RP1-20N2.6_ENST00000593175.1_RNA|RP1-20N2.6_ENST00000415586.1_RNA|RP1-20N2.6_ENST00000591189.1_RNA|FUCA2_ENST00000367585.1_5'UTR|FUCA2_ENST00000438118.2_Splice_Site_p.W75*|RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000589489.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	75					fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		GCCAATACCACCTAAGGGGAG	0.388																																						ENST00000002165.6																			0				endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						c.(223-225)tgG>tgA		fucosidase, alpha-L- 2, plasma							70.0	78.0	75.0					6																	143828561		2203	4300	6503	SO:0001630	splice_region_variant	2519				fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding	g.chr6:143828561C>T	BC003060	CCDS5200.1	6q24	2012-10-02			ENSG00000001036	ENSG00000001036	3.2.1.51		4008	protein-coding gene	gene with protein product		136820				6590153	Standard	NM_032020		Approved	MGC1314, dJ20N2.5	uc003qjm.3	Q9BTY2	OTTHUMG00000015728	ENST00000002165.6:c.225-1G>A	6.37:g.143828561C>T						FUCA2_ENST00000367585.1_5'UTR|FUCA2_ENST00000438118.2_Splice_Site_p.W75*	p.W75*	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)	2	280	-								E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Splice_Site	SNP	ENST00000002165.6	37	c.225G>A	CCDS5200.1	.	.	.	.	.	.	.	.	.	.	C	36	5.640036	0.96693	.	.	ENSG00000001036	ENST00000002165;ENST00000438118;ENST00000367585	.	.	.	4.91	4.91	0.64330	.	0.139208	0.52532	D	0.000066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.6402	0.91393	0.0:1.0:0.0:0.0	.	.	.	.	X	75	.	ENSP00000002165:W75X	W	-	3	0	FUCA2	143870254	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.278000	0.78587	2.698000	0.92095	0.655000	0.94253	TGG		0.388	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042521.2	NM_032020	Nonsense_Mutation	8	117	8	117	---	---	---	---
VPS13B	157680	broad.mit.edu	37	8	100160146	100160146	+	Missense_Mutation	SNP	A	A	G			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr8:100160146A>G	ENST00000358544.2	+	14	2032	c.1921A>G	c.(1921-1923)Aca>Gca	p.T641A	VPS13B_ENST00000395996.1_Missense_Mutation_p.T641A|VPS13B_ENST00000355155.1_Missense_Mutation_p.T641A|VPS13B_ENST00000357162.2_Missense_Mutation_p.T641A	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	641					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TACTCGACATACAAGTGTTAC	0.343																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(1921-1923)Aca>Gca		vacuolar protein sorting 13 homolog B (yeast)							170.0	165.0	166.0					8																	100160146		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100160146A>G	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.1921A>G	8.37:g.100160146A>G	ENSP00000351346:p.Thr641Ala					VPS13B_ENST00000357162.2_Missense_Mutation_p.T641A|VPS13B_ENST00000358544.2_Missense_Mutation_p.T641A|VPS13B_ENST00000355155.1_Missense_Mutation_p.T641A	p.T641A			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		14	2032	+	Breast(36;3.73e-07)		641					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.1921A>G	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	15.22	2.768740	0.49680	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996	T;T;T;T	0.77620	-1.11;-0.41;-0.41;-0.11	5.17	5.17	0.71159	.	0.086607	0.49916	D	0.000128	T	0.68742	0.3034	L	0.27053	0.805	0.43462	D	0.995661	P;P;P;B;B	0.46277	0.875;0.875;0.802;0.4;0.4	P;P;B;B;B	0.45037	0.467;0.467;0.277;0.121;0.121	T	0.70809	-0.4771	10	0.48119	T	0.1	.	10.5338	0.44992	0.8556:0.0:0.0:0.1444	.	641;641;641;641;641	Q7Z7G8-6;Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4	.;.;VP13B_HUMAN;.;.	A	641	ENSP00000347281:T641A;ENSP00000349685:T641A;ENSP00000351346:T641A;ENSP00000379318:T641A	ENSP00000347281:T641A	T	+	1	0	VPS13B	100229322	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.462000	0.73526	2.063000	0.61619	0.533000	0.62120	ACA		0.343	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		4	239	4	239	---	---	---	---
SPATC1	375686	broad.mit.edu	37	8	145094892	145094892	+	Silent	SNP	C	C	T	rs151043400		TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr8:145094892C>T	ENST00000377470.3	+	2	396	c.294C>T	c.(292-294)gcC>gcT	p.A98A	SPATC1_ENST00000447830.2_Silent_p.A98A	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	98						centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CACCCCTGGCCGAGATGCTAA	0.637																																						ENST00000377470.3																			0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						c.(292-294)gcC>gcT		spermatogenesis and centriole associated 1		C	,	1,4405	2.1+/-5.4	0,1,2202	75.0	77.0	76.0		294,294	0.5	0.9	8	dbSNP_134	76	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	SPATC1	NM_001134374.1,NM_198572.2	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	98/442,98/592	145094892	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	375686							g.chr8:145094892C>T	BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.294C>T	8.37:g.145094892C>T						SPATC1_ENST00000447830.2_Silent_p.A98A	p.A98A	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		2	396	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		98					B4DWW9|Q5U5I8|Q7Z6L7	Silent	SNP	ENST00000377470.3	37	c.294C>T	CCDS6413.2																																																																																				0.637	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346926.1	NM_198572		4	129	4	129	---	---	---	---
PRPF19	27339	broad.mit.edu	37	11	60668386	60668386	+	Missense_Mutation	SNP	T	T	C			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr11:60668386T>C	ENST00000227524.4	-	9	863	c.658A>G	c.(658-660)Agc>Ggc	p.S220G		NM_014502.4	NP_055317.1			pre-mRNA processing factor 19											haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						CCAGGAATGCTGGCACTGTGC	0.607																																						ENST00000227524.4																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						c.(658-660)Agc>Ggc		pre-mRNA processing factor 19							63.0	58.0	60.0					11																	60668386		2203	4299	6502	SO:0001583	missense	27339				DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity	g.chr11:60668386T>C	BC018698	CCDS7995.1	11q12.2	2014-05-20	2013-06-10	2005-04-01	ENSG00000110107	ENSG00000110107		"""WD repeat domain containing"", ""U-box domain containing"""	17896	protein-coding gene	gene with protein product	"""nuclear matrix protein NMP200 related to splicing factor PRP19"", ""psoralen 4"""	608330	"""PRP19/PSO4 homolog (S. cerevisiae)"", ""PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae)"""	PRP19		12960389	Standard	NM_014502		Approved	UBOX4, NMP200, PSO4, hPSO4	uc001nqf.3	Q9UMS4	OTTHUMG00000167798	ENST00000227524.4:c.658A>G	11.37:g.60668386T>C	ENSP00000227524:p.Ser220Gly						p.S220G	NM_014502.4	NP_055317.1	Q9UMS4	PRP19_HUMAN			9	863	-			220						Missense_Mutation	SNP	ENST00000227524.4	37	c.658A>G	CCDS7995.1	.	.	.	.	.	.	.	.	.	.	T	17.22	3.333552	0.60853	.	.	ENSG00000110107	ENST00000227524;ENST00000541371	T	0.62498	0.02	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.64193	0.2576	M	0.75085	2.285	0.80722	D	1	B	0.15719	0.014	B	0.15484	0.013	T	0.61946	-0.6958	10	0.45353	T	0.12	-26.1376	15.5939	0.76562	0.0:0.0:0.0:1.0	.	220	Q9UMS4	PRP19_HUMAN	G	220	ENSP00000227524:S220G	ENSP00000227524:S220G	S	-	1	0	PRPF19	60424962	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.687000	0.84139	2.164000	0.68074	0.533000	0.62120	AGC		0.607	PRPF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396334.1	NM_014502		8	79	8	79	---	---	---	---
RELA	5970	broad.mit.edu	37	11	65426194	65426194	+	Missense_Mutation	SNP	T	T	C			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr11:65426194T>C	ENST00000406246.3	-	7	920	c.659A>G	c.(658-660)cAg>cGg	p.Q220R	RELA_ENST00000525693.1_Missense_Mutation_p.Q220R|RELA_ENST00000308639.9_Missense_Mutation_p.Q217R	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	220	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						TATACCTTTCTGCACCTTGTC	0.562																																						ENST00000525693.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						c.(658-660)cAg>cGg		v-rel avian reticuloendotheliosis viral oncogene homolog A							120.0	103.0	109.0					11																	65426194		2201	4297	6498	SO:0001583	missense	5970				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding	g.chr11:65426194T>C	Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"""	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.659A>G	11.37:g.65426194T>C	ENSP00000384273:p.Gln220Arg					RELA_ENST00000406246.3_Missense_Mutation_p.Q220R|RELA_ENST00000308639.9_Missense_Mutation_p.Q217R	p.Q220R			Q04206	TF65_HUMAN			7	721	-			220			RHD.		Q6GTV1|Q6SLK1	Missense_Mutation	SNP	ENST00000406246.3	37	c.659A>G	CCDS31609.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.684952	0.88639	.	.	ENSG00000173039	ENST00000406246;ENST00000525693;ENST00000308639;ENST00000426617;ENST00000545816;ENST00000532999	T;T;T;T	0.09911	2.93;2.93;2.93;2.93	4.8	4.8	0.61643	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.33760	0.0874	M	0.80616	2.505	0.54753	D	0.999988	D;D;D;D;D;D	0.89917	0.997;0.996;0.996;0.994;1.0;0.998	D;D;D;D;D;D	0.77004	0.956;0.988;0.988;0.973;0.989;0.952	T	0.13791	-1.0496	10	0.87932	D	0	-16.7622	12.6124	0.56558	0.0:0.0:0.0:1.0	.	220;207;217;220;231;220	Q04206-3;Q04206-2;Q04206-4;Q04206;B4E082;Q2TAM5	.;.;.;TF65_HUMAN;.;.	R	220;220;217;220;231;231	ENSP00000384273:Q220R;ENSP00000432537:Q220R;ENSP00000311508:Q217R;ENSP00000433526:Q231R	ENSP00000311508:Q217R	Q	-	2	0	RELA	65182770	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.851000	0.86920	1.933000	0.56026	0.533000	0.62120	CAG		0.562	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390457.2	NM_021975		16	146	16	146	---	---	---	---
ERC1	23085	broad.mit.edu	37	12	1192464	1192464	+	Missense_Mutation	SNP	G	G	T			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr12:1192464G>T	ENST00000397203.2	+	3	1210	c.804G>T	c.(802-804)caG>caT	p.Q268H	ERC1_ENST00000546231.2_Missense_Mutation_p.Q268H|ERC1_ENST00000543086.3_Missense_Mutation_p.Q268H|ERC1_ENST00000355446.5_Missense_Mutation_p.Q268H|ERC1_ENST00000360905.4_Missense_Mutation_p.Q268H|ERC1_ENST00000589028.1_Missense_Mutation_p.Q268H			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	268					I-kappaB phosphorylation (GO:0007252)|multicellular organismal development (GO:0007275)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein transport (GO:0015031)|regulation of transcription, DNA-templated (GO:0006355)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|IkappaB kinase complex (GO:0008385)|presynaptic membrane (GO:0042734)	leucine zipper domain binding (GO:0043522)			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			AGAACTTTCAGAGGCTTCATG	0.507																																						ENST00000397203.2																			0				NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						c.(802-804)caG>caT		ELKS/RAB6-interacting/CAST family member 1							76.0	69.0	71.0					12																	1192464		2203	4300	6503	SO:0001583	missense	23085				I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding	g.chr12:1192464G>T	AB015617	CCDS8508.1, CCDS53732.1	12p13.3	2008-02-05	2006-08-14	2006-08-14	ENSG00000082805	ENSG00000082805			17072	protein-coding gene	gene with protein product		607127	"""RAB6 interacting protein 2"""	RAB6IP2		10697956, 11929610	Standard	NM_178040		Approved	ELKS, KIAA1081, CAST2, MGC12974	uc001qjb.2	Q8IUD2	OTTHUMG00000130138	ENST00000397203.2:c.804G>T	12.37:g.1192464G>T	ENSP00000380386:p.Gln268His					ERC1_ENST00000543086.3_Missense_Mutation_p.Q268H|ERC1_ENST00000360905.4_Missense_Mutation_p.Q268H|ERC1_ENST00000355446.5_Missense_Mutation_p.Q268H|ERC1_ENST00000546231.2_Missense_Mutation_p.Q268H|ERC1_ENST00000589028.1_Missense_Mutation_p.Q268H	p.Q268H			Q8IUD2	RB6I2_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)		3	1210	+	all_epithelial(11;0.0698)|Ovarian(42;0.107)		268					A2RU77|A7E295|D3DUP7|D3DUP8|Q6NVK2|Q8IUD3|Q8IUD4|Q8IUD5|Q8NAS1|Q9NXN5|Q9UIK7|Q9UPS1	Missense_Mutation	SNP	ENST00000397203.2	37	c.804G>T	CCDS8508.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.412733	0.42817	.	.	ENSG00000082805	ENST00000347735;ENST00000397203;ENST00000454194;ENST00000537890;ENST00000543086;ENST00000542302;ENST00000546231;ENST00000355446;ENST00000360905;ENST00000440394;ENST00000538971	T;T;T;T;T;T;T;T	0.44881	0.91;0.91;0.91;0.91;0.91;0.91;0.91;0.91	5.62	4.73	0.59995	.	0.061231	0.64402	D	0.000002	T	0.35682	0.0940	L	0.29908	0.895	0.35334	D	0.785869	P;P;P;P	0.42993	0.742;0.643;0.797;0.783	B;B;B;P	0.46419	0.382;0.179;0.424;0.516	T	0.49899	-0.8890	10	0.54805	T	0.06	-23.63	7.5644	0.27870	0.1442:0.1368:0.719:0.0	.	44;268;268;268	F5H327;Q8IUD2-2;Q8IUD2-3;Q8IUD2	.;.;.;RB6I2_HUMAN	H	268;268;268;268;268;268;268;268;268;268;44	ENSP00000340054:Q268H;ENSP00000380386:Q268H;ENSP00000438546:Q268H;ENSP00000445336:Q268H;ENSP00000442739:Q268H;ENSP00000347621:Q268H;ENSP00000354158:Q268H;ENSP00000410064:Q268H	ENSP00000340054:Q268H	Q	+	3	2	ERC1	1062725	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	0.647000	0.24812	1.503000	0.48686	0.655000	0.94253	CAG		0.507	ERC1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398380.2	NM_015064		10	74	10	74	---	---	---	---
TFDP1	7027	broad.mit.edu	37	13	114290866	114290866	+	Missense_Mutation	SNP	A	A	G			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr13:114290866A>G	ENST00000375370.5	+	10	1069	c.857A>G	c.(856-858)aAt>aGt	p.N286S	TFDP1_ENST00000538138.1_Missense_Mutation_p.N191S|TFDP1_ENST00000544902.1_Missense_Mutation_p.N191S	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	286	DCB2.|Enhances binding of RB protein to E2F.				anoikis (GO:0043276)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|epidermis development (GO:0008544)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|Notch signaling pathway (GO:0007219)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA biosynthetic process (GO:2000278)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			TATCTGTTTAATTTTGACAAC	0.542										TSP Lung(29;0.18)																												ENST00000375370.5																			0				breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						c.(856-858)aAt>aGt		transcription factor Dp-1							100.0	103.0	102.0					13																	114290866		2203	4300	6503	SO:0001583	missense	7027				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding	g.chr13:114290866A>G	BC011685	CCDS9538.1	13q34	2008-07-18			ENSG00000198176	ENSG00000198176			11749	protein-coding gene	gene with protein product		189902				8413592, 9027491	Standard	NM_007111		Approved	Dp-1, DRTF1, DP1	uc001vtw.3	Q14186	OTTHUMG00000017388	ENST00000375370.5:c.857A>G	13.37:g.114290866A>G	ENSP00000364519:p.Asn286Ser	TSP Lung(29;0.18)				TFDP1_ENST00000538138.1_Missense_Mutation_p.N191S|TFDP1_ENST00000544902.1_Missense_Mutation_p.N191S	p.N286S	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	all cancers(43;0.0576)		10	1069	+	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	286			DCB2.|Enhances binding of RB protein to E2F.		B4DLQ9|Q5JSB4|Q8IZL5	Missense_Mutation	SNP	ENST00000375370.5	37	c.857A>G	CCDS9538.1	.	.	.	.	.	.	.	.	.	.	A	15.79	2.936965	0.52972	.	.	ENSG00000198176	ENST00000538138;ENST00000375370;ENST00000544902	T;T;T	0.46451	0.87;1.8;0.91	4.4	4.4	0.53042	Transcription factor DP, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.43787	0.1263	L	0.59912	1.85	0.80722	D	1	B;B;P;B	0.49862	0.161;0.166;0.929;0.415	B;B;B;B	0.43990	0.081;0.152;0.438;0.102	T	0.50890	-0.8774	10	0.72032	D	0.01	.	13.6209	0.62136	1.0:0.0:0.0:0.0	.	191;191;191;286	F5H452;B4DLQ9;B7Z569;Q14186	.;.;.;TFDP1_HUMAN	S	191;286;191	ENSP00000443878:N191S;ENSP00000364519:N286S;ENSP00000438450:N191S	ENSP00000364519:N286S	N	+	2	0	TFDP1	113338867	1.000000	0.71417	0.990000	0.47175	0.928000	0.56348	8.380000	0.90149	1.619000	0.50296	0.402000	0.26972	AAT		0.542	TFDP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045918.3	NM_007111		6	128	6	128	---	---	---	---
AHNAK2	113146	broad.mit.edu	37	14	105419654	105419654	+	Missense_Mutation	SNP	G	G	A	rs150847607	byFrequency	TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr14:105419654G>A	ENST00000333244.5	-	7	2253	c.2134C>T	c.(2134-2136)Ctc>Ttc	p.L712F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	712						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGCATGGAGAGGAGGCTCACG	0.617													G|||	5	0.000998403	0.003	0.0	5008	,	,		18896	0.0		0.0	False		,,,				2504	0.001					ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(2134-2136)Ctc>Ttc		AHNAK nucleoprotein 2							129.0	139.0	136.0					14																	105419654		1986	4159	6145	SO:0001583	missense	113146					nucleus		g.chr14:105419654G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2134C>T	14.37:g.105419654G>A	ENSP00000353114:p.Leu712Phe					AHNAK2_ENST00000557457.1_Intron	p.L712F	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	2253	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	712					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.2134C>T	CCDS45177.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	g	11.89	1.773738	0.31411	.	.	ENSG00000185567	ENST00000333244	T	0.00892	5.57	2.77	1.82	0.25136	.	.	.	.	.	T	0.00552	0.0018	N	0.08118	0	0.09310	N	1	B	0.31026	0.304	B	0.18263	0.021	T	0.43925	-0.9361	9	0.11485	T	0.65	-0.5972	8.8173	0.35004	0.1275:0.0:0.8725:0.0	.	712	Q8IVF2	AHNK2_HUMAN	F	712	ENSP00000353114:L712F	ENSP00000353114:L712F	L	-	1	0	AHNAK2	104490699	0.205000	0.23458	0.019000	0.16419	0.007000	0.05969	2.721000	0.47260	1.087000	0.41251	0.556000	0.70494	CTC		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		5	328	5	328	---	---	---	---
NLRC5	84166	broad.mit.edu	37	16	57101678	57101678	+	Missense_Mutation	SNP	T	T	A			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr16:57101678T>A	ENST00000262510.6	+	36	4662	c.4437T>A	c.(4435-4437)gaT>gaA	p.D1479E	NLRC5_ENST00000436936.1_Missense_Mutation_p.D1479E|NLRC5_ENST00000539144.1_Missense_Mutation_p.D1450E|NLRC5_ENST00000308149.7_Missense_Mutation_p.D1450E	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1479					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GTGAGGACGATGATGCCAGTT	0.507																																						ENST00000436936.1																			0				NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75						c.(4435-4437)gaT>gaA		NLR family, CARD domain containing 5							175.0	151.0	159.0					16																	57101678		2198	4300	6498	SO:0001583	missense	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57101678T>A	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.4437T>A	16.37:g.57101678T>A	ENSP00000262510:p.Asp1479Glu					NLRC5_ENST00000262510.6_Missense_Mutation_p.D1479E|NLRC5_ENST00000308149.7_Missense_Mutation_p.D1450E|NLRC5_ENST00000539144.1_Missense_Mutation_p.D1450E	p.D1479E			Q86WI3	NLRC5_HUMAN			36	4662	+		all_neural(199;0.225)	1479					B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	ENST00000262510.6	37	c.4437T>A	CCDS10773.1	.	.	.	.	.	.	.	.	.	.	T	0.006	-2.077564	0.00375	.	.	ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000539144	T;T;T;T	0.54675	2.25;2.25;0.56;2.25	1.91	-3.46	0.04767	.	.	.	.	.	T	0.37404	0.1002	L	0.49126	1.545	0.09310	N	1	B	0.15141	0.012	B	0.06405	0.002	T	0.24584	-1.0156	9	0.33940	T	0.23	.	2.7038	0.05156	0.2118:0.3867:0.0:0.4015	.	1479	Q86WI3	NLRC5_HUMAN	E	1479;1450;1479;1450	ENSP00000262510:D1479E;ENSP00000308886:D1450E;ENSP00000389739:D1479E;ENSP00000441727:D1450E	ENSP00000262510:D1479E	D	+	3	2	NLRC5	55659179	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.355000	0.07671	-0.919000	0.03803	-0.732000	0.03574	GAT		0.507	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		4	159	4	159	---	---	---	---
KRTAP9-2	83899	broad.mit.edu	37	17	39383026	39383026	+	Silent	SNP	C	C	T	rs527833476		TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr17:39383026C>T	ENST00000377721.3	+	1	127	c.120C>T	c.(118-120)ccC>ccT	p.P40P	KRTAP9-2_ENST00000455970.2_Silent_p.P40P	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	keratin associated protein 9-2	40	17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].					keratin filament (GO:0045095)				large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			GCTGCCAGCCCGCCTGCTGTG	0.637													.|||	1	0.000199681	0.0008	0.0	5008	,	,		21774	0.0		0.0	False		,,,				2504	0.0					ENST00000377721.3																			0				large_intestine(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						c.(118-120)ccC>ccT		keratin associated protein 9-2							58.0	52.0	54.0					17																	39383026		2203	4300	6503	SO:0001819	synonymous_variant	83899					keratin filament	protein binding	g.chr17:39383026C>T	AJ406946	CCDS32651.1	17q21.2	2013-06-25			ENSG00000239886	ENSG00000239886		"""Keratin associated proteins"""	16926	protein-coding gene	gene with protein product						11279113	Standard	NM_031961		Approved	KAP9.2	uc002hwf.3	Q9BYQ4	OTTHUMG00000133609	ENST00000377721.3:c.120C>T	17.37:g.39383026C>T						KRTAP9-2_ENST00000455970.2_Silent_p.P40P	p.P40P	NM_031961.2	NP_114167.2	Q9BYQ4	KRA92_HUMAN	STAD - Stomach adenocarcinoma(17;0.000397)		1	127	+		Breast(137;0.000496)	40			17 X 5 AA repeats of C-C-[RQVSGE]-[SPTQ]- [TASP].		Q17RK8|Q2TB15|Q6ISF6	Silent	SNP	ENST00000377721.3	37	c.120C>T	CCDS32651.1																																																																																				0.637	KRTAP9-2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257717.1			10	183	10	183	---	---	---	---
CBX4	8535	broad.mit.edu	37	17	77807801	77807801	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr17:77807801G>A	ENST00000269397.4	-	5	1817	c.1640C>T	c.(1639-1641)gCg>gTg	p.A547V		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	547	Interaction with RNF2.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GAGGCAGTTCGCGGTGACGTC	0.622																																						ENST00000269397.4																			0				breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(1639-1641)gCg>gTg		chromobox homolog 4							53.0	59.0	57.0					17																	77807801		2203	4300	6503	SO:0001583	missense	8535				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	g.chr17:77807801G>A	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.1640C>T	17.37:g.77807801G>A	ENSP00000269397:p.Ala547Val						p.A547V	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1817	-			547			Interaction with RNF2.		B1PJR7|Q6TPI8|Q96C04	Missense_Mutation	SNP	ENST00000269397.4	37	c.1640C>T	CCDS32758.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583456	0.86748	.	.	ENSG00000141582	ENST00000269397;ENST00000343048	.	.	.	3.16	3.16	0.36331	.	0.890365	0.09588	U	0.781849	T	0.52917	0.1764	L	0.38175	1.15	0.80722	D	1	D	0.61080	0.989	P	0.49799	0.622	T	0.56517	-0.7966	9	0.72032	D	0.01	-40.157	13.0469	0.58931	0.0:0.0:1.0:0.0	.	547	O00257	CBX4_HUMAN	V	547;277	.	ENSP00000269397:A547V	A	-	2	0	CBX4	75422396	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	8.757000	0.91657	1.796000	0.52611	0.299000	0.19835	GCG		0.622	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655		7	141	7	141	---	---	---	---
LILRA5	353514	broad.mit.edu	37	19	54822827	54822827	+	Missense_Mutation	SNP	G	G	A			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr19:54822827G>A	ENST00000301219.3	-	5	688	c.569C>T	c.(568-570)aCc>aTc	p.T190I	LILRA5_ENST00000432233.3_Missense_Mutation_p.T190I|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000446712.3_Missense_Mutation_p.T178I|LILRA5_ENST00000346508.3_Missense_Mutation_p.T178I	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5	190	Ig-like C2-type 2.				innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCCACTGGGGGTCAGCTGTGA	0.597																																						ENST00000301219.3																			0				breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20						c.(568-570)aCc>aTc		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5							54.0	55.0	55.0					19																	54822827		2203	4300	6503	SO:0001583	missense	353514				innate immune response	extracellular region|integral to membrane	receptor activity	g.chr19:54822827G>A	AF212842	CCDS12888.1, CCDS12889.1	19q13.4	2013-01-11	2005-05-13	2005-05-13	ENSG00000187116	ENSG00000187116		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	16309	protein-coding gene	gene with protein product		606047		LILRB7		10941842	Standard	NM_181986		Approved	ILT11, LIR9, CD85, CD85f	uc002qfe.3	A6NI73	OTTHUMG00000065357	ENST00000301219.3:c.569C>T	19.37:g.54822827G>A	ENSP00000301219:p.Thr190Ile					LILRA5_ENST00000346508.3_Missense_Mutation_p.T178I|LILRA5_ENST00000446712.3_Missense_Mutation_p.T178I|AC008984.2_ENST00000507363.1_RNA|LILRA5_ENST00000432233.3_Missense_Mutation_p.T190I	p.T190I	NM_021250.2	NP_067073.1	A6NI73	LIRA5_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	5	688	-	Ovarian(34;0.19)		190			Ig-like C2-type 2.		A6NHI3	Missense_Mutation	SNP	ENST00000301219.3	37	c.569C>T	CCDS12888.1	.	.	.	.	.	.	.	.	.	.	G	5.588	0.293291	0.10567	.	.	ENSG00000187116	ENST00000301219;ENST00000346508;ENST00000446712;ENST00000432233	T;T;T;T	0.03004	4.08;4.08;4.08;4.08	3.14	-6.28	0.02020	Immunoglobulin-like fold (1);	8.951160	0.00754	U	0.001087	T	0.01940	0.0061	N	0.11560	0.145	0.09310	N	1	B;B;B;B	0.19200	0.021;0.008;0.034;0.001	B;B;B;B	0.21151	0.033;0.017;0.009;0.006	T	0.42120	-0.9470	10	0.21540	T	0.41	.	2.5786	0.04813	0.2525:0.1138:0.4784:0.1553	.	178;190;178;190	A6NI73-4;A6NI73-3;A6NI73-2;A6NI73	.;.;.;LIRA5_HUMAN	I	190;178;178;190	ENSP00000301219:T190I;ENSP00000302948:T178I;ENSP00000389499:T178I;ENSP00000404236:T190I	ENSP00000301219:T190I	T	-	2	0	LILRA5	59514639	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-4.454000	0.00231	-1.559000	0.01688	0.205000	0.17691	ACC		0.597	LILRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140231.1	NM_181985		4	71	4	71	---	---	---	---
ZMYND8	23613	broad.mit.edu	37	20	45927599	45927599	+	Missense_Mutation	SNP	G	G	C			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr20:45927599G>C	ENST00000311275.7	-	4	520	c.267C>G	c.(265-267)ttC>ttG	p.F89L	ZMYND8_ENST00000540497.1_Missense_Mutation_p.F84L|ZMYND8_ENST00000461685.1_Missense_Mutation_p.F109L|ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000396281.4_Missense_Mutation_p.F89L|ZMYND8_ENST00000360911.3_Missense_Mutation_p.F84L|ZMYND8_ENST00000536340.1_Missense_Mutation_p.F116L|ZMYND8_ENST00000446994.2_Missense_Mutation_p.F64L|ZMYND8_ENST00000471951.2_Missense_Mutation_p.F109L|ZMYND8_ENST00000352431.2_Missense_Mutation_p.F109L|ZMYND8_ENST00000355972.4_Missense_Mutation_p.F89L|ZMYND8_ENST00000372023.3_Missense_Mutation_p.F84L|ZMYND8_ENST00000458360.2_Missense_Mutation_p.F84L|ZMYND8_ENST00000262975.4_Missense_Mutation_p.F89L	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	zinc finger, MYND-type containing 8	89					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62			Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)			CCCAGCAGTAGAAATCATTCC	0.502																																						ENST00000311275.7																			0				NS(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|prostate(3)|skin(2)|urinary_tract(8)	62						c.(265-267)ttC>ttG		zinc finger, MYND-type containing 8							146.0	130.0	135.0					20																	45927599		2203	4300	6503	SO:0001583	missense	23613						protein binding|zinc ion binding	g.chr20:45927599G>C	U48251	CCDS13404.1, CCDS13405.1, CCDS46613.1, CCDS63300.1, CCDS63301.1, CCDS63304.1, CCDS63306.1, CCDS74738.1	20q13.12	2013-01-28	2007-01-29	2007-01-29	ENSG00000101040	ENSG00000101040		"""Zinc fingers, MYND-type"", ""Zinc fingers, PHD-type"""	9397	protein-coding gene	gene with protein product		615713	"""protein kinase C binding protein 1"""	PRKCBP1			Standard	NM_001281769		Approved	RACK7	uc002xtb.1	Q9ULU4	OTTHUMG00000032667	ENST00000311275.7:c.267C>G	20.37:g.45927599G>C	ENSP00000312237:p.Phe89Leu					ZMYND8_ENST00000468376.2_5'UTR|ZMYND8_ENST00000396281.4_Missense_Mutation_p.F89L|ZMYND8_ENST00000540497.1_Missense_Mutation_p.F84L|ZMYND8_ENST00000446994.2_Missense_Mutation_p.F64L|ZMYND8_ENST00000536340.1_Missense_Mutation_p.F116L|ZMYND8_ENST00000355972.4_Missense_Mutation_p.F89L|ZMYND8_ENST00000262975.4_Missense_Mutation_p.F89L|ZMYND8_ENST00000352431.2_Missense_Mutation_p.F109L|ZMYND8_ENST00000471951.2_Missense_Mutation_p.F109L|ZMYND8_ENST00000461685.1_Missense_Mutation_p.F109L|ZMYND8_ENST00000458360.2_Missense_Mutation_p.F84L|ZMYND8_ENST00000372023.3_Missense_Mutation_p.F84L|ZMYND8_ENST00000360911.3_Missense_Mutation_p.F84L	p.F89L	NM_001281772.1|NM_001281778.1|NM_001281783.1	NP_001268701.1|NP_001268707.1|NP_001268712.1	Q9ULU4	PKCB1_HUMAN	Epithelial(1;0.0289)|all cancers(1;0.0962)|OV - Ovarian serous cystadenocarcinoma(1;0.154)		4	520	-			89					B3KVL2|B7Z2A8|B7Z3E0|B7Z680|B7ZM62|E1P5U5|F5H0X3|H7C0U2|J3KPU3|Q13517|Q2HXV1|Q2HXV2|Q2HXV3|Q2HXV4|Q2HXV7|Q2HXV8|Q2HXV9|Q2HXW0|Q2HXW1|Q2HXW2|Q4JJ94|Q4JJ95|Q5TH09|Q5TH11|Q6MZM1|Q8WXC5|Q9H1F3|Q9H1F4|Q9H1F5|Q9H1L8|Q9H1L9|Q9H2G5|Q9NYN3|Q9UIX6	Missense_Mutation	SNP	ENST00000311275.7	37	c.267C>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	31|31	5.076852|5.076852	0.94000|0.94000	.|.	.|.	ENSG00000101040|ENSG00000101040	ENST00000360911;ENST00000311275;ENST00000458360;ENST00000262975;ENST00000471951;ENST00000352431;ENST00000396281;ENST00000536340;ENST00000355972;ENST00000446994;ENST00000461685;ENST00000372023;ENST00000540497;ENST00000435836|ENST00000467200	T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.40225|.	1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04;1.04|.	6.11|6.11	6.11|6.11	0.99139|0.99139	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.65923|0.65923	0.2738|0.2738	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	P;P;D;D;D;D;P;D;P;P;D;D;D;D;D;D;P;P|.	0.76494|.	0.865;0.917;0.997;0.997;0.959;0.998;0.841;0.999;0.917;0.756;0.999;0.998;0.997;0.997;0.962;0.998;0.865;0.865|.	P;P;D;D;P;D;P;D;P;P;D;D;D;D;D;D;P;P|.	0.87578|.	0.745;0.87;0.989;0.995;0.766;0.995;0.805;0.998;0.87;0.805;0.998;0.989;0.995;0.995;0.935;0.987;0.745;0.745|.	T|T	0.57545|0.57545	-0.7793|-0.7793	10|5	0.37606|.	T|.	0.19|.	-15.8642|-15.8642	20.7342|20.7342	0.99715|0.99715	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	84;116;84;84;109;83;109;89;84;109;109;89;64;84;84;109;84;89|.	B7ZM62;F5H0X3;Q2HXV7;Q2HXV3;Q569J9;Q5JV90;Q9ULU4-7;Q9ULU4-9;Q9ULU4-14;Q9ULU4-12;Q9ULU4-13;Q9ULU4;B3KVL2;Q2HXV9;Q2HXV1;Q9ULU4-8;Q2HXV4;B7Z2A8|.	.;.;.;.;.;.;.;.;.;.;.;PKCB1_HUMAN;.;.;.;.;.;.|.	L|V	84;89;84;89;109;109;89;116;89;64;109;84;84;64|16	ENSP00000354166:F84L;ENSP00000312237:F89L;ENSP00000392964:F84L;ENSP00000262975:F89L;ENSP00000420095:F109L;ENSP00000335537:F109L;ENSP00000379577:F89L;ENSP00000439800:F116L;ENSP00000348246:F89L;ENSP00000396725:F64L;ENSP00000418210:F109L;ENSP00000361093:F84L;ENSP00000443086:F84L;ENSP00000413727:F64L|.	ENSP00000262975:F89L|.	F|L	-|-	3|1	2|2	ZMYND8|ZMYND8	45361006|45361006	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.869000|9.869000	0.99810|0.99810	2.906000|2.906000	0.99361|0.99361	0.655000|0.655000	0.94253|0.94253	TTC|CTA		0.502	ZMYND8-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000079596.2	NM_183047		4	85	4	85	---	---	---	---
MGA	23269	broad.mit.edu	37	15	42041985	42041986	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-KC-A4BL-01A-31D-A257-08	TCGA-KC-A4BL-10A-01D-A25A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac6a47f6-a38c-4f94-bac9-81fb034fb62d	6e7ac799-87c3-4d22-bad2-57f73e88124f	g.chr15:42041985_42041986delAG	ENST00000570161.1	+	16	6180_6181	c.6180_6181delAG	c.(6178-6183)caagatfs	p.D2061fs	MGA_ENST00000566586.1_Frame_Shift_Del_p.D1852fs|MGA_ENST00000545763.1_Frame_Shift_Del_p.D1852fs|MGA_ENST00000219905.7_Frame_Shift_Del_p.D2061fs|MGA_ENST00000389936.4_Frame_Shift_Del_p.D2022fs			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATACAGATCAAGATTATAAAGA	0.406																																						ENST00000219905.7																			0				NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95						c.(6178-6183)caagatfs		MGA, MAX dimerization protein																																				SO:0001589	frameshift_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42041985_42041986delAG	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.6180_6181delAG	15.37:g.42041985_42041986delAG	ENSP00000457035:p.Asp2061fs					MGA_ENST00000566586.1_Frame_Shift_Del_p.D1852fs|MGA_ENST00000389936.4_Frame_Shift_Del_p.D2022fs|MGA_ENST00000545763.1_Frame_Shift_Del_p.D1852fs|MGA_ENST00000570161.1_Frame_Shift_Del_p.D2061fs	p.D2061fs	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	17	6361_6362	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2022					Q0VAX6|Q75ME7|Q86UM5	Frame_Shift_Del	DEL	ENST00000570161.1	37	c.6180_6181delAG	CCDS55959.1																																																																																				0.406	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		22	204	22	204	---	---	---	---
