#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
SELENBP1	8991	broad.mit.edu	37	1	151337077	151337077	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr1:151337077G>A	ENST00000368868.5	-	12	1452	c.1361C>T	c.(1360-1362)gCc>gTc	p.A454V	SELENBP1_ENST00000447402.3_Missense_Mutation_p.A392V|SELENBP1_ENST00000435071.1_Missense_Mutation_p.A390V|SELENBP1_ENST00000473693.1_5'Flank|SELENBP1_ENST00000426705.2_Missense_Mutation_p.A496V	NM_003944.3	NP_003935.2	Q13228	SBP1_HUMAN	selenium binding protein 1	454					protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	selenium binding (GO:0008430)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ATGGGCAAGGGCTGGGCCAAG	0.567																																						ENST00000426705.2																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|urinary_tract(1)	20						c.(1486-1488)gCc>gTc		selenium binding protein 1							116.0	120.0	119.0					1																	151337077		2203	4300	6503	SO:0001583	missense	8991				protein transport	cytosol|membrane|nucleolus	protein binding|selenium binding	g.chr1:151337077G>A	U29091	CCDS995.1, CCDS58027.1, CCDS60266.1	1q21.3	2014-05-19			ENSG00000143416	ENSG00000143416			10719	protein-coding gene	gene with protein product		604188				9027582	Standard	NM_003944		Approved	hSP56, hSBP, LPSB	uc010pcy.3	Q13228	OTTHUMG00000012498	ENST00000368868.5:c.1361C>T	1.37:g.151337077G>A	ENSP00000357861:p.Ala454Val					SELENBP1_ENST00000447402.3_Missense_Mutation_p.A392V|SELENBP1_ENST00000435071.1_Missense_Mutation_p.A390V|SELENBP1_ENST00000368868.5_Missense_Mutation_p.A454V	p.A496V	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		12	1631	-	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		454					A6NML9|A6PVW9|B2RDR3|B4DKP6|B4E1F3|Q49AQ8|Q96GX7	Missense_Mutation	SNP	ENST00000368868.5	37	c.1487C>T	CCDS995.1	.	.	.	.	.	.	.	.	.	.	G	10.94	1.492482	0.26774	.	.	ENSG00000143416	ENST00000368868;ENST00000447402;ENST00000435071	.	.	.	4.86	4.86	0.63082	.	0.163511	0.53938	D	0.000059	T	0.15652	0.0377	N	0.11870	0.19	0.41902	D	0.990428	B;B;B;B	0.13594	0.005;0.004;0.004;0.008	B;B;B;B	0.20384	0.016;0.02;0.009;0.029	T	0.11518	-1.0584	9	0.22706	T	0.39	-8.9292	7.1008	0.25336	0.0922:0.1754:0.7324:0.0	.	392;307;390;454	B4E1F3;B4DPI7;Q13228-2;Q13228	.;.;.;SBP1_HUMAN	V	454;392;390	.	ENSP00000357861:A454V	A	-	2	0	SELENBP1	149603701	0.067000	0.21026	0.991000	0.47740	0.821000	0.46438	0.521000	0.22893	2.264000	0.75181	0.555000	0.69702	GCC		0.567	SELENBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034904.4			4	80	4	80	---	---	---	---
ZBTB7B	51043	broad.mit.edu	37	1	154988869	154988869	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr1:154988869A>G	ENST00000368426.3	+	4	1465	c.1328A>G	c.(1327-1329)gAc>gGc	p.D443G	ZBTB7B_ENST00000417934.2_Missense_Mutation_p.D477G|ZBTB7B_ENST00000292176.2_Missense_Mutation_p.D443G|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.D443G	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	443					cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCAAGGAGGACCACCTGCAG	0.642																																						ENST00000368426.3																			0				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29						c.(1327-1329)gAc>gGc		zinc finger and BTB domain containing 7B							85.0	75.0	78.0					1																	154988869		2202	4300	6502	SO:0001583	missense	51043				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr1:154988869A>G	AF007833	CCDS1081.1, CCDS58030.1	1q21.2	2013-01-08		2005-04-07	ENSG00000160685	ENSG00000160685		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	18668	protein-coding gene	gene with protein product	"""zinc finger and BTB domain containing 15"""	607646	"""zinc finger protein 67 homolog (mouse)"""	ZFP67		9370309, 7937772	Standard	NR_045515		Approved	ZBTB15, c-Krox, hcKrox, ZNF857B	uc010peq.3	O15156	OTTHUMG00000037414	ENST00000368426.3:c.1328A>G	1.37:g.154988869A>G	ENSP00000357411:p.Asp443Gly					ZBTB7B_ENST00000292176.2_Missense_Mutation_p.D443G|ZBTB7B_ENST00000417934.2_Missense_Mutation_p.D477G|ZBTB7B_ENST00000535420.1_Missense_Mutation_p.D443G	p.D443G	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.00034)		4	1465	+	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		443					B4E3K5|D3DV83|J3KQQ3|Q68DR2|Q96EP2	Missense_Mutation	SNP	ENST00000368426.3	37	c.1328A>G	CCDS1081.1	.	.	.	.	.	.	.	.	.	.	a	14.32	2.501088	0.44455	.	.	ENSG00000160685	ENST00000535420;ENST00000368426;ENST00000417934;ENST00000292176	T;T;T;T	0.05199	3.48;3.48;3.48;3.48	3.62	2.44	0.29823	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	U	0.000002	T	0.01800	0.0057	L	0.29908	0.895	0.43043	D	0.994637	B;B;B	0.15473	0.013;0.007;0.013	B;B;B	0.14023	0.01;0.003;0.01	T	0.40757	-0.9546	10	0.41790	T	0.15	.	8.2677	0.31824	0.7981:0.2019:0.0:0.0	.	443;443;477	A8K6F4;O15156;B4E3K5	.;ZBT7B_HUMAN;.	G	443;443;477;443	ENSP00000438647:D443G;ENSP00000357411:D443G;ENSP00000406286:D477G;ENSP00000292176:D443G	ENSP00000292176:D443G	D	+	2	0	ZBTB7B	153255493	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	6.790000	0.75115	0.540000	0.28808	0.375000	0.23000	GAC		0.642	ZBTB7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091083.1	NM_015872		6	27	6	27	---	---	---	---
HOXD8	3234	broad.mit.edu	37	2	176996330	176996330	+	Missense_Mutation	SNP	T	T	G			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr2:176996330T>G	ENST00000313173.4	+	2	1490	c.863T>G	c.(862-864)cTg>cGg	p.L288R	HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000548663.1_Missense_Mutation_p.L184R|HOXD8_ENST00000544999.1_Missense_Mutation_p.L287R|HOXD8_ENST00000450510.2_Missense_Mutation_p.L287R|HOXD8_ENST00000429017.1_Missense_Mutation_p.L104R	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	288					anterior/posterior axis specification, embryo (GO:0008595)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GCCGAAGGCCTGACAAATTAA	0.433																																						ENST00000313173.4																			0				central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9						c.(862-864)cTg>cGg		homeobox D8							35.0	43.0	41.0					2																	176996330		2203	4299	6502	SO:0001583	missense	3234				anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:176996330T>G		CCDS2268.1, CCDS56148.1, CCDS56149.1	2q31.1	2011-06-20	2005-12-22		ENSG00000175879	ENSG00000175879		"""Homeoboxes / ANTP class : HOXL subclass"""	5139	protein-coding gene	gene with protein product		142985	"""homeo box D8"""	HOX4, HOX4E		1973146, 1358459	Standard	NM_001199747		Approved		uc002uko.3	P13378	OTTHUMG00000132513	ENST00000313173.4:c.863T>G	2.37:g.176996330T>G	ENSP00000315949:p.Leu288Arg					HOXD8_ENST00000548663.1_Missense_Mutation_p.L184R|HOXD-AS2_ENST00000440016.2_RNA|HOXD8_ENST00000429017.1_Missense_Mutation_p.L104R|HOXD8_ENST00000544999.1_Missense_Mutation_p.L287R|HOXD8_ENST00000450510.2_Missense_Mutation_p.L287R	p.L288R	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)	2	1490	+			288					F8WBG7|Q5BL00|Q8IXZ1	Missense_Mutation	SNP	ENST00000313173.4	37	c.863T>G	CCDS2268.1	.	.	.	.	.	.	.	.	.	.	t	4.977	0.181542	0.09495	.	.	ENSG00000175879	ENST00000429017;ENST00000313173;ENST00000544999;ENST00000548663;ENST00000450510	D;D;D;D;D	0.91407	-2.75;-2.84;-2.73;-2.58;-2.73	6.03	1.79	0.24919	.	0.618146	0.14464	N	0.317974	T	0.76702	0.4024	N	0.08118	0	0.09310	N	0.999999	B;B	0.20671	0.047;0.047	B;B	0.16289	0.015;0.015	T	0.61342	-0.7082	10	0.15952	T	0.53	.	7.8811	0.29623	0.1491:0.619:0.0:0.2319	.	287;288	Q8IXZ1;P13378	.;HXD8_HUMAN	R	104;288;287;184;287	ENSP00000406045:L104R;ENSP00000315949:L288R;ENSP00000437431:L287R;ENSP00000448196:L184R;ENSP00000409026:L287R	ENSP00000315949:L288R	L	+	2	0	HOXD8	176704576	0.000000	0.05858	0.512000	0.27736	0.965000	0.64279	0.098000	0.15189	0.409000	0.25649	-0.140000	0.14226	CTG		0.433	HOXD8-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255694.1			7	26	7	26	---	---	---	---
ITGA9	3680	broad.mit.edu	37	3	37818970	37818970	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr3:37818970A>G	ENST00000264741.5	+	24	2885	c.2629A>G	c.(2629-2631)Ata>Gta	p.I877V	AC093415.2_ENST00000438136.1_RNA	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	877					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CTTCCACACAATATTTGCTTT	0.428																																						ENST00000264741.5																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44						c.(2629-2631)Ata>Gta		integrin, alpha 9							119.0	117.0	118.0					3																	37818970		2203	4300	6503	SO:0001583	missense	3680				axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr3:37818970A>G	L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.2629A>G	3.37:g.37818970A>G	ENSP00000264741:p.Ile877Val					AC093415.2_ENST00000438136.1_RNA	p.I877V	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)	24	2885	+			877					Q14638	Missense_Mutation	SNP	ENST00000264741.5	37	c.2629A>G	CCDS2669.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.958144	0.73902	.	.	ENSG00000144668	ENST00000264741	T	0.43688	0.94	5.66	5.66	0.87406	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	T	0.41213	0.1149	L	0.49640	1.575	0.80722	D	1	B	0.32968	0.392	B	0.37091	0.241	T	0.19418	-1.0306	10	0.21540	T	0.41	.	15.1835	0.72978	1.0:0.0:0.0:0.0	.	877	Q13797	ITA9_HUMAN	V	877	ENSP00000264741:I877V	ENSP00000264741:I877V	I	+	1	0	ITGA9	37793974	1.000000	0.71417	0.895000	0.35142	0.992000	0.81027	8.438000	0.90305	2.285000	0.76669	0.533000	0.62120	ATA		0.428	ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207		10	25	10	25	---	---	---	---
CP	1356	broad.mit.edu	37	3	148903046	148903046	+	Silent	SNP	C	C	T			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr3:148903046C>T	ENST00000264613.6	-	12	2527	c.2265G>A	c.(2263-2265)ctG>ctA	p.L755L	CP_ENST00000462336.1_5'UTR	NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	755	F5/8 type A 3.|Plastocyanin-like 5.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GTAAATGATGCAGCTCCTTTT	0.428																																						ENST00000264613.6																			0				breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(2263-2265)ctG>ctA		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						190.0	192.0	191.0					3																	148903046		2203	4300	6503	SO:0001819	synonymous_variant	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148903046C>T	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.2265G>A	3.37:g.148903046C>T						CP_ENST00000462336.1_5'UTR	p.L755L	NM_000096.3	NP_000087	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		12	2527	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	755			F5/8 type A 3.|Plastocyanin-like 5.		Q14063|Q2PP18|Q9UKS4	Silent	SNP	ENST00000264613.6	37	c.2265G>A	CCDS3141.1																																																																																				0.428	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		4	152	4	152	---	---	---	---
DHX29	54505	broad.mit.edu	37	5	54558526	54558526	+	Missense_Mutation	SNP	C	C	T			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr5:54558526C>T	ENST00000251636.5	-	24	3908	c.3760G>A	c.(3760-3762)Gca>Aca	p.A1254T	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	1254						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TGTACTTGTGCTTTGCCTTGG	0.433																																						ENST00000251636.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46						c.(3760-3762)Gca>Aca		DEAH (Asp-Glu-Ala-His) box polypeptide 29							184.0	176.0	179.0					5																	54558526		2203	4300	6503	SO:0001583	missense	54505						ATP binding|ATP-dependent helicase activity|translation initiation factor activity	g.chr5:54558526C>T	AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.3760G>A	5.37:g.54558526C>T	ENSP00000251636:p.Ala1254Thr					RP11-506H20.1_ENST00000506435.1_RNA	p.A1254T	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN			24	3908	-		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)	1254					O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	ENST00000251636.5	37	c.3760G>A	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.230284	0.79688	.	.	ENSG00000067248	ENST00000251636	T	0.03607	3.87	5.42	5.42	0.78866	Domain of unknown function DUF1605 (1);	0.047001	0.85682	D	0.000000	T	0.14700	0.0355	M	0.68317	2.08	0.58432	D	0.999996	P	0.51653	0.947	P	0.56563	0.801	T	0.00039	-1.2242	10	0.62326	D	0.03	.	19.5786	0.95455	0.0:1.0:0.0:0.0	.	1254	Q7Z478	DHX29_HUMAN	T	1254	ENSP00000251636:A1254T	ENSP00000251636:A1254T	A	-	1	0	DHX29	54594283	1.000000	0.71417	1.000000	0.80357	0.185000	0.23345	7.386000	0.79775	2.711000	0.92665	0.655000	0.94253	GCA		0.433	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1	NM_019030		8	99	8	99	---	---	---	---
PCDHA5	56143	broad.mit.edu	37	5	140203041	140203041	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr5:140203041G>A	ENST00000529859.1	+	1	1681	c.1681G>A	c.(1681-1683)Gcg>Acg	p.A561T	PCDHA5_ENST00000529619.1_Missense_Mutation_p.A561T|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A561T|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	561	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.A561S(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGACAACGCGCCGGCGCT	0.716																																						ENST00000529859.1																			2	Substitution - Missense(2)	p.A561S(2)	lung(2)	NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(1681-1683)Gcg>Acg									52.0	58.0	56.0					5																	140203041		2202	4296	6498	SO:0001583	missense	56143							g.chr5:140203041G>A	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.1681G>A	5.37:g.140203041G>A	ENSP00000436557:p.Ala561Thr					PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A561T|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A561T|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000512229.2_Intron	p.A561T	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1681	+								O75284|Q8N4R3	Missense_Mutation	SNP	ENST00000529859.1	37	c.1681G>A	CCDS54917.1	.	.	.	.	.	.	.	.	.	.	G	11.00	1.511195	0.27036	.	.	ENSG00000204965	ENST00000529619;ENST00000529859;ENST00000378126	T;T;T	0.43294	0.95;0.95;0.95	3.86	2.9	0.33743	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.41373	0.1156	M	0.69823	2.125	0.26803	N	0.969159	P;P;P	0.43607	0.466;0.812;0.812	B;B;B	0.36244	0.094;0.22;0.22	T	0.46091	-0.9216	9	0.66056	D	0.02	.	13.1137	0.59288	0.0:0.0:0.8399:0.1601	.	561;561;561	Q9Y5H7;Q9Y5H7-3;Q9Y5H7-2	PCDA5_HUMAN;.;.	T	561	ENSP00000433416:A561T;ENSP00000436557:A561T;ENSP00000367366:A561T	ENSP00000367366:A561T	A	+	1	0	PCDHA5	140183225	0.225000	0.23685	0.978000	0.43139	0.010000	0.07245	1.728000	0.38105	1.864000	0.54056	0.461000	0.40582	GCG		0.716	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		4	79	4	79	---	---	---	---
HIST1H2BM	8342	broad.mit.edu	37	6	27783060	27783060	+	Missense_Mutation	SNP	G	G	C			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr6:27783060G>C	ENST00000359465.4	+	1	239	c.239G>C	c.(238-240)cGc>cCc	p.R80P	HIST1H2AJ_ENST00000333151.3_5'Flank	NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	80					chromatin organization (GO:0006325)|nucleosome assembly (GO:0006334)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						GAAGCGTCACGCCTGGCGCAT	0.592																																						ENST00000359465.4																			0				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						c.(238-240)cGc>cCc		histone cluster 1, H2bm							110.0	101.0	104.0					6																	27783060		2203	4300	6503	SO:0001583	missense	8342				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27783060G>C	Z83738	CCDS4629.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000196374	ENSG00000273703		"""Histones / Replication-dependent"""	4750	protein-coding gene	gene with protein product		602802	"""H2B histone family, member E"", ""histone 1, H2bm"""	H2BFE		9439656, 12408966	Standard	NM_003521		Approved	H2B/e, dJ160A22.3	uc003njo.3	Q99879	OTTHUMG00000014489	ENST00000359465.4:c.239G>C	6.37:g.27783060G>C	ENSP00000352442:p.Arg80Pro						p.R80P	NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN			1	239	+			80					Q6NWQ3	Missense_Mutation	SNP	ENST00000359465.4	37	c.239G>C	CCDS4629.1	.	.	.	.	.	.	.	.	.	.	.	17.49	3.403356	0.62288	.	.	ENSG00000196374	ENST00000359465	T	0.32272	1.46	4.17	4.17	0.49024	Histone-fold (2);Histone core (1);	0.000000	0.64402	U	0.000013	T	0.58552	0.2130	H	0.96015	3.755	0.80722	D	1	D	0.58970	0.984	P	0.59643	0.861	T	0.74506	-0.3643	10	0.87932	D	0	.	15.9934	0.80223	0.0:0.0:1.0:0.0	.	80	Q99879	H2B1M_HUMAN	P	80	ENSP00000352442:R80P	ENSP00000352442:R80P	R	+	2	0	HIST1H2BM	27891039	1.000000	0.71417	0.997000	0.53966	0.673000	0.39480	7.036000	0.76524	2.308000	0.77769	0.563000	0.77884	CGC		0.592	HIST1H2BM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040157.1	NM_003521		16	65	16	65	---	---	---	---
TRIM15	89870	broad.mit.edu	37	6	30138773	30138773	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr6:30138773G>A	ENST00000376694.4	+	6	1337	c.868G>A	c.(868-870)Gaa>Aaa	p.E290K	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	290	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				innate immune response (GO:0045087)|mesodermal cell fate determination (GO:0007500)|negative regulation of intracellular transport of viral material (GO:1901253)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of RIG-I signaling pathway (GO:1900246)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)	intracellular (GO:0005622)	zinc ion binding (GO:0008270)			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						GCATCATCTGGAAATAGATTC	0.428																																						ENST00000376694.4																			0				large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						c.(868-870)Gaa>Aaa		tripartite motif containing 15							165.0	178.0	173.0					6																	30138773		1511	2709	4220	SO:0001583	missense	89870				mesodermal cell fate determination	intracellular	zinc ion binding	g.chr6:30138773G>A	AF220132, U34249	CCDS4677.1	6p21.33	2013-01-09	2011-01-25		ENSG00000204610	ENSG00000204610		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16284	protein-coding gene	gene with protein product			"""zinc finger protein 178"", ""tripartite motif-containing 15"""	ZNF178		11331580, 8304341, 8812418	Standard	NM_033229		Approved	ZNFB7, RNF93	uc010jrx.3	Q9C019	OTTHUMG00000031031	ENST00000376694.4:c.868G>A	6.37:g.30138773G>A	ENSP00000365884:p.Glu290Lys					TRIM15_ENST00000376688.1_Intron	p.E290K	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN			6	1337	+			290			B30.2/SPRY.		A2BEC9|O95604|Q8IUX9|Q9C018	Missense_Mutation	SNP	ENST00000376694.4	37	c.868G>A	CCDS4677.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.47|19.47	3.833140|3.833140	0.71258|0.71258	.|.	.|.	ENSG00000204610|ENSG00000204610	ENST00000376695;ENST00000376694|ENST00000433744	T|.	0.53640|.	0.61|.	5.1|5.1	4.22|4.22	0.49857|0.49857	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);|.	0.284737|.	0.26321|.	N|.	0.025058|.	T|.	0.45316|.	0.1336|.	L|L	0.46157|0.46157	1.445|1.445	0.80722|0.80722	D|D	1|1	D|.	0.56968|.	0.978|.	P|.	0.56865|.	0.808|.	T|.	0.42155|.	-0.9468|.	10|.	0.34782|.	T|.	0.22|.	.|.	11.3132|11.3132	0.49377|0.49377	0.0:0.1988:0.8012:0.0|0.0:0.1988:0.8012:0.0	.|.	290|.	Q9C019|.	TRI15_HUMAN|.	K|X	221;290|126	ENSP00000365884:E290K|.	ENSP00000365884:E290K|.	E|W	+|+	1|3	0|0	TRIM15|TRIM15	30246752|30246752	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.905000|0.905000	0.53344|0.53344	2.585000|2.585000	0.46111|0.46111	1.356000|1.356000	0.45884|0.45884	0.579000|0.579000	0.79373|0.79373	GAA|TGG		0.428	TRIM15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076026.2	NM_033229		16	58	16	58	---	---	---	---
NPC1L1	29881	broad.mit.edu	37	7	44575523	44575523	+	Silent	SNP	C	C	A			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr7:44575523C>A	ENST00000289547.4	-	5	1954	c.1899G>T	c.(1897-1899)ctG>ctT	p.L633L	NPC1L1_ENST00000381160.3_Silent_p.L633L|NPC1L1_ENST00000423141.1_Silent_p.L633L|NPC1L1_ENST00000546276.1_Silent_p.L633L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	633	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intestinal cholesterol absorption (GO:0030299)|lipoprotein metabolic process (GO:0042157)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)	brush border membrane (GO:0031526)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	drug binding (GO:0008144)|hedgehog receptor activity (GO:0008158)|myosin V binding (GO:0031489)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CAAAGATGGGCAGGTCTTCAG	0.592																																						ENST00000289547.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57						c.(1897-1899)ctG>ctT		NPC1-like 1	Ezetimibe(DB00973)						129.0	111.0	117.0					7																	44575523		2203	4300	6503	SO:0001819	synonymous_variant	29881				cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	g.chr7:44575523C>A		CCDS5491.1, CCDS43575.1, CCDS75587.1	7p13	2012-11-15	2012-11-15		ENSG00000015520	ENSG00000015520			7898	protein-coding gene	gene with protein product		608010	"""NPC1 (Niemann-Pick disease, type C1, gene)-like 1"""			10783261	Standard	NM_013389		Approved		uc003tlb.3	Q9UHC9	OTTHUMG00000023691	ENST00000289547.4:c.1899G>T	7.37:g.44575523C>A						NPC1L1_ENST00000423141.1_Silent_p.L633L|NPC1L1_ENST00000546276.1_Silent_p.L633L|NPC1L1_ENST00000381160.3_Silent_p.L633L	p.L633L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN			5	1954	-			633			SSD.		A4D2J7|B7ZLE6|D3DVK9|Q17RV5|Q6R3Q4|Q9UHC8	Silent	SNP	ENST00000289547.4	37	c.1899G>T	CCDS5491.1																																																																																				0.592	NPC1L1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251256.1	NM_013389		3	28	3	28	---	---	---	---
TRIM8	81603	broad.mit.edu	37	10	104414440	104414440	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr10:104414440G>A	ENST00000302424.7	+	2	723	c.601G>A	c.(601-603)Gag>Aag	p.E201K	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8	201					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|PML body (GO:0016605)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGACCGGCTGGAGGAGCGAGA	0.592																																						ENST00000302424.7																			0				endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15						c.(601-603)Gag>Aag		tripartite motif containing 8							167.0	157.0	160.0					10																	104414440		2203	4300	6503	SO:0001583	missense	81603					cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding	g.chr10:104414440G>A	AF281046	CCDS31274.1	10q24.3	2013-01-09	2011-01-25	2002-06-14	ENSG00000171206	ENSG00000171206		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	15579	protein-coding gene	gene with protein product	"""glioblastoma expressed ring finger protein"""	606125	"""ring finger protein 27"", ""tripartite motif-containing 8"""	RNF27		11118312, 12163497	Standard	NM_030912		Approved	GERP	uc001kvz.2	Q9BZR9	OTTHUMG00000018964	ENST00000302424.7:c.601G>A	10.37:g.104414440G>A	ENSP00000302120:p.Glu201Lys					TRIM8_ENST00000487927.1_3'UTR	p.E201K	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	2	723	+		Colorectal(252;0.122)						A6NI31|Q9C028	Missense_Mutation	SNP	ENST00000302424.7	37	c.601G>A	CCDS31274.1	.	.	.	.	.	.	.	.	.	.	g	24.4	4.526871	0.85706	.	.	ENSG00000171206	ENST00000302424;ENST00000369896	T	0.55588	0.51	5.19	4.29	0.51040	.	0.057228	0.64402	D	0.000002	T	0.42268	0.1195	L	0.27053	0.805	0.58432	D	0.999999	P	0.52842	0.956	P	0.46718	0.525	T	0.18023	-1.0350	10	0.10377	T	0.69	.	13.9579	0.64162	0.0734:0.0:0.9266:0.0	.	201	Q9BZR9	TRIM8_HUMAN	K	201;200	ENSP00000302120:E201K	ENSP00000302120:E201K	E	+	1	0	TRIM8	104404430	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.409000	0.73289	1.221000	0.43506	-0.230000	0.12252	GAG		0.592	TRIM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050084.3	NM_030912		17	114	17	114	---	---	---	---
LUZP2	338645	broad.mit.edu	37	11	25071608	25071608	+	Missense_Mutation	SNP	A	A	C			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr11:25071608A>C	ENST00000336930.6	+	10	856	c.790A>C	c.(790-792)Aat>Cat	p.N264H	LUZP2_ENST00000533227.1_Missense_Mutation_p.N178H			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	264						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TTCTGGAAACAATGAGAGCTC	0.353																																						ENST00000533227.1																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						c.(532-534)Aat>Cat		leucine zipper protein 2							92.0	91.0	92.0					11																	25071608		2203	4300	6503	SO:0001583	missense	338645					extracellular region		g.chr11:25071608A>C	AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.790A>C	11.37:g.25071608A>C	ENSP00000336817:p.Asn264His					LUZP2_ENST00000336930.6_Missense_Mutation_p.N264H	p.N178H	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN			10	819	+			264			Leucine-zipper.		A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Missense_Mutation	SNP	ENST00000336930.6	37	c.532A>C	CCDS31446.1	.	.	.	.	.	.	.	.	.	.	A	11.62	1.693625	0.30052	.	.	ENSG00000187398	ENST00000336930;ENST00000533227	T;T	0.43294	1.56;0.95	5.24	2.8	0.32819	.	0.803739	0.11408	N	0.567081	T	0.21674	0.0522	N	0.04508	-0.205	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.002	T	0.20605	-1.0270	10	0.37606	T	0.19	-3.1886	9.5703	0.39425	0.657:0.343:0.0:0.0	.	178;264	E9PN53;Q86TE4	.;LUZP2_HUMAN	H	264;178	ENSP00000336817:N264H;ENSP00000432952:N178H	ENSP00000336817:N264H	N	+	1	0	LUZP2	25028184	0.001000	0.12720	0.000000	0.03702	0.632000	0.37999	0.873000	0.28052	0.341000	0.23771	0.528000	0.53228	AAT		0.353	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387861.1	NM_001009909		4	45	4	45	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92085432	92085432	+	Missense_Mutation	SNP	G	G	A	rs200399875		TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr11:92085432G>A	ENST00000298047.6	+	1	171	c.154G>A	c.(154-156)Gtg>Atg	p.V52M	FAT3_ENST00000409404.2_Missense_Mutation_p.V52M|FAT3_ENST00000541502.1_Missense_Mutation_p.V52M|FAT3_ENST00000525166.1_5'Flank			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	52	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAATGCTACCGTGTATGAGAA	0.488										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(154-156)Gtg>Atg		FAT atypical cadherin 3							69.0	69.0	69.0					11																	92085432		1940	4132	6072	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92085432G>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.154G>A	11.37:g.92085432G>A	ENSP00000298047:p.Val52Met	TCGA Ovarian(4;0.039)				FAT3_ENST00000409404.2_Missense_Mutation_p.V52M|FAT3_ENST00000541502.1_Missense_Mutation_p.V52M	p.V52M			Q8TDW7	FAT3_HUMAN			1	171	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	52			Cadherin 1.		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.154G>A		.	.	.	.	.	.	.	.	.	.	G	16.52	3.146411	0.57044	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502	T;T;T	0.66099	-0.19;-0.19;-0.19	5.61	5.61	0.85477	.	.	.	.	.	T	0.78929	0.4361	M	0.84433	2.695	0.35343	D	0.786633	D	0.67145	0.996	P	0.56648	0.803	D	0.85703	0.1314	9	0.72032	D	0.01	.	18.9894	0.92784	0.0:0.0:1.0:0.0	.	52	Q8TDW7-3	.	M	52	ENSP00000298047:V52M;ENSP00000387040:V52M;ENSP00000443786:V52M	ENSP00000298047:V52M	V	+	1	0	FAT3	91725080	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	3.161000	0.50747	2.802000	0.96397	0.655000	0.94253	GTG		0.488	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		3	30	3	30	---	---	---	---
MAP2K7	5609	broad.mit.edu	37	19	7970733	7970733	+	Intron	SNP	A	A	G	rs562064143		TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr19:7970733A>G	ENST00000397979.3	+	1	178				MAP2K7_ENST00000545011.1_Intron|MAP2K7_ENST00000397983.3_Silent_p.Q55Q|AC010336.1_ENST00000539278.1_5'Flank|MAP2K7_ENST00000397981.3_Intron	NM_145185.2	NP_660186.1	O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7						activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular response to sorbitol (GO:0072709)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of neuron apoptotic process (GO:0043525)|response to heat (GO:0009408)|response to osmotic stress (GO:0006970)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|magnesium ion binding (GO:0000287)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						CCCCGTCCCAACGAGCAGGTA	0.532																																						ENST00000397983.3																			0				breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19						c.(163-165)caA>caG		mitogen-activated protein kinase kinase 7	Etoposide(DB00773)						384.0	375.0	378.0					19																	7970733		876	1991	2867	SO:0001627	intron_variant	5609				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr19:7970733A>G	AF006689	CCDS42491.1, CCDS74277.1, CCDS74278.1	19p13.3-p13.2	2011-06-09			ENSG00000076984	ENSG00000076984	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6847	protein-coding gene	gene with protein product		603014		PRKMK7		9312068	Standard	XM_005272489		Approved	MKK7, Jnkk2	uc002mit.3	O14733	OTTHUMG00000137368	ENST00000397979.3:c.124+1780A>G	19.37:g.7970733A>G						MAP2K7_ENST00000397979.3_Intron|MAP2K7_ENST00000545011.1_Intron|MAP2K7_ENST00000397981.3_Intron	p.Q55Q			O14733	MP2K7_HUMAN			2	225	+			41					B2R9S5|D6W659|O14648|O14816|O60452|O60453|Q1PG43|Q8IY10	Silent	SNP	ENST00000397979.3	37	c.165A>G	CCDS42491.1																																																																																				0.532	MAP2K7-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000267980.1			27	107	27	107	---	---	---	---
CLPTM1	1209	broad.mit.edu	37	19	45494556	45494556	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr19:45494556A>G	ENST00000337392.5	+	12	1630	c.1480A>G	c.(1480-1482)Agt>Ggt	p.S494G	CLPTM1_ENST00000541297.2_Missense_Mutation_p.S480G|CLPTM1_ENST00000546079.1_Missense_Mutation_p.S392G	NM_001282175.1|NM_001282176.1|NM_001294.2	NP_001269104.1|NP_001269105.1|NP_001285.1	O96005	CLPT1_HUMAN	cleft lip and palate associated transmembrane protein 1	494				S -> G (in Ref. 3; BAG52034). {ECO:0000305}.	cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of T cell differentiation in thymus (GO:0033081)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		TGCCGTCTACAGTCTTCTGTA	0.637																																						ENST00000541297.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(1438-1440)Agt>Ggt		cleft lip and palate associated transmembrane protein 1							242.0	209.0	220.0					19																	45494556		2203	4300	6503	SO:0001583	missense	1209				cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		g.chr19:45494556A>G	AF037339	CCDS12651.1, CCDS74394.1, CCDS74395.1	19q13.3	2008-02-05				ENSG00000104853			2087	protein-coding gene	gene with protein product		604783				9828125	Standard	NM_001294		Approved		uc002pai.3	O96005		ENST00000337392.5:c.1480A>G	19.37:g.45494556A>G	ENSP00000336994:p.Ser494Gly					CLPTM1_ENST00000546079.1_Missense_Mutation_p.S392G|CLPTM1_ENST00000337392.5_Missense_Mutation_p.S494G	p.S480G			O96005	CLPT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)	12	1903	+		all_neural(266;0.224)|Ovarian(192;0.231)	494					B3KQH2|B4DDS3|B4E2X9|B7Z9X9|F5H8J3|Q53ET6|Q9BSS5	Missense_Mutation	SNP	ENST00000337392.5	37	c.1438A>G	CCDS12651.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.718971	0.89205	.	.	ENSG00000104853	ENST00000546079;ENST00000541297;ENST00000337392;ENST00000347493	.	.	.	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.85974	0.5822	H	0.94345	3.525	0.80722	D	1	D;D	0.65815	0.994;0.995	D;D	0.72338	0.949;0.977	D	0.89664	0.3879	9	0.87932	D	0	-36.235	13.6308	0.62193	1.0:0.0:0.0:0.0	.	480;494	F5H8J3;O96005	.;CLPT1_HUMAN	G	392;480;494;494	.	ENSP00000336994:S494G	S	+	1	0	CLPTM1	50186396	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	8.546000	0.90661	2.109000	0.64355	0.529000	0.55759	AGT		0.637	CLPTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453267.1	NM_001294		25	118	25	118	---	---	---	---
SIGLEC1	6614	broad.mit.edu	37	20	3673297	3673297	+	Silent	SNP	G	G	A			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr20:3673297G>A	ENST00000344754.4	-	15	3900	c.3901C>T	c.(3901-3903)Ctg>Ttg	p.L1301L	SIGLEC1_ENST00000202578.4_Silent_p.L1301L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1301	Ig-like C2-type 13.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CCCTCCTGCAGCCAACGACCG	0.657																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(3901-3903)Ctg>Ttg		sialic acid binding Ig-like lectin 1, sialoadhesin							47.0	47.0	47.0					20																	3673297		2203	4300	6503	SO:0001819	synonymous_variant	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3673297G>A	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3901C>T	20.37:g.3673297G>A						SIGLEC1_ENST00000202578.4_Silent_p.L1301L	p.L1301L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			15	3900	-			1301			Ig-like C2-type 13.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Silent	SNP	ENST00000344754.4	37	c.3901C>T	CCDS13060.1	.	.	.	.	.	.	.	.	.	.	G	1.875	-0.459254	0.04508	.	.	ENSG00000088827	ENST00000419548	.	.	.	5.71	4.74	0.60224	.	.	.	.	.	T	0.57021	0.2025	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55270	-0.8167	4	.	.	.	.	7.2786	0.26297	0.0843:0.0:0.7454:0.1703	.	.	.	.	V	114	.	.	A	-	2	0	SIGLEC1	3621297	1.000000	0.71417	1.000000	0.80357	0.190000	0.23558	1.451000	0.35145	1.376000	0.46267	0.655000	0.94253	GCT		0.657	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		3	12	3	12	---	---	---	---
SEL1L2	80343	broad.mit.edu	37	20	13894588	13894588	+	Missense_Mutation	SNP	G	G	A			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr20:13894588G>A	ENST00000284951.5	-	5	463	c.389C>T	c.(388-390)gCc>gTc	p.A130V	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Missense_Mutation_p.A130V			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	130						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AAGTAGGTAGGCTCTGTTTCA	0.353																																						ENST00000284951.5																			0				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						c.(388-390)gCc>gTc		sel-1 suppressor of lin-12-like 2 (C. elegans)							56.0	52.0	53.0					20																	13894588		1815	4083	5898	SO:0001583	missense	80343					integral to membrane	binding	g.chr20:13894588G>A	AL137678	CCDS59443.1	20p12.1	2011-03-31	2006-11-24	2006-11-24	ENSG00000101251	ENSG00000101251			15897	protein-coding gene	gene with protein product		614289	"""chromosome 20 open reading frame 50"""	C20orf50			Standard	NM_001271539		Approved	DKFZp434C1826	uc010zrl.3	Q5TEA6	OTTHUMG00000031910	ENST00000284951.5:c.389C>T	20.37:g.13894588G>A	ENSP00000284951:p.Ala130Val					SEL1L2_ENST00000378072.5_Missense_Mutation_p.A130V|SEL1L2_ENST00000486903.1_5'UTR	p.A130V			Q5TEA6	SE1L2_HUMAN			5	463	-			130					B4DXX5	Missense_Mutation	SNP	ENST00000284951.5	37	c.389C>T		.	.	.	.	.	.	.	.	.	.	G	25.5	4.648216	0.87958	.	.	ENSG00000101251	ENST00000378072;ENST00000284951;ENST00000473203	T;T;T	0.81078	-0.71;-0.71;-1.45	6.17	6.17	0.99709	Tetratricopeptide-like helical (1);	0.000000	0.52532	D	0.000065	D	0.84032	0.5383	L	0.27053	0.805	0.51233	D	0.999911	D;D	0.89917	1.0;0.999	D;D	0.83275	0.993;0.996	D	0.84022	0.0354	10	0.51188	T	0.08	-4.8075	16.3795	0.83443	0.0:0.0:1.0:0.0	.	130;130	B4DXX5;Q5TEA6	.;SE1L2_HUMAN	V	130;130;18	ENSP00000367312:A130V;ENSP00000284951:A130V;ENSP00000420372:A18V	ENSP00000284951:A130V	A	-	2	0	SEL1L2	13842588	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	5.175000	0.65021	2.941000	0.99782	0.655000	0.94253	GCC		0.353	SEL1L2-002	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078067.3	NM_025229		3	31	3	31	---	---	---	---
PASD1	139135	broad.mit.edu	37	X	150840968	150840968	+	Missense_Mutation	SNP	A	A	G			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chrX:150840968A>G	ENST00000370357.4	+	14	1996	c.1751A>G	c.(1750-1752)cAg>cGg	p.Q584R		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	584						nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GAGAGGGTGCAGATATGCCTG	0.532																																						ENST00000370357.4																			0				breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						c.(1750-1752)cAg>cGg		PAS domain containing 1							182.0	129.0	147.0					X																	150840968		2203	4300	6503	SO:0001583	missense	139135					nucleus	signal transducer activity	g.chrX:150840968A>G	AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.1751A>G	X.37:g.150840968A>G	ENSP00000359382:p.Gln584Arg						p.Q584R	NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN			14	1996	+	Acute lymphoblastic leukemia(192;6.56e-05)		584					Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	c.1751A>G	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	A	9.847	1.192541	0.21954	.	.	ENSG00000166049	ENST00000370357	T	0.36699	1.24	2.63	1.45	0.22620	.	.	.	.	.	T	0.37433	0.1003	N	0.24115	0.695	0.09310	N	1	D	0.76494	0.999	D	0.69479	0.964	T	0.12578	-1.0542	9	0.48119	T	0.1	.	3.9284	0.09273	0.8176:0.0:0.1824:0.0	.	584	Q8IV76	PASD1_HUMAN	R	584	ENSP00000359382:Q584R	ENSP00000359382:Q584R	Q	+	2	0	PASD1	150591624	0.000000	0.05858	0.001000	0.08648	0.017000	0.09413	-0.189000	0.09629	0.319000	0.23209	0.422000	0.28245	CAG		0.532	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493		12	17	12	17	---	---	---	---
GATA6	2627	broad.mit.edu	37	18	19751408	19751408	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HC-A8D1-01A-11D-A364-08	TCGA-HC-A8D1-10A-01D-A362-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba8e7248-e06a-4817-8199-d0a3a52e0a5f	d0e157eb-2d83-4028-9d45-cea626e62e21	g.chr18:19751408delC	ENST00000269216.3	+	2	580	c.303delC	c.(301-303)ggcfs	p.G101fs	GATA6_ENST00000581694.1_Frame_Shift_Del_p.G101fs|GATA6-AS1_ENST00000583490.1_lincRNA	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	101					blood coagulation (GO:0007596)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle hypertrophy in response to stress (GO:0014898)|cardiac vascular smooth muscle cell differentiation (GO:0060947)|cellular response to BMP stimulus (GO:0071773)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to hypoxia (GO:0071456)|Clara cell differentiation (GO:0060486)|endodermal cell fate determination (GO:0007493)|in utero embryonic development (GO:0001701)|intestinal epithelial cell differentiation (GO:0060575)|liver development (GO:0001889)|lung saccule development (GO:0060430)|male gonad development (GO:0008584)|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)|negative regulation of transforming growth factor beta1 production (GO:0032911)|negative regulation of transforming growth factor beta2 production (GO:0032912)|organ formation (GO:0048645)|outflow tract septum morphogenesis (GO:0003148)|pancreatic A cell differentiation (GO:0003310)|phospholipid metabolic process (GO:0006644)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cardioblast differentiation (GO:0051891)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to growth factor (GO:0070848)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)|tube morphogenesis (GO:0035239)|type B pancreatic cell differentiation (GO:0003309)|Type II pneumocyte differentiation (GO:0060510)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GGGTCGCGGGCCCCGGGGGCA	0.726																																					Colon(8;48 282 46199 46856)|Melanoma(177;170 2725 12489 26999)	ENST00000269216.3																			0				NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18						c.(301-303)ggcfs		GATA binding protein 6							6.0	9.0	8.0					18																	19751408		1887	3973	5860	SO:0001589	frameshift_variant	2627				blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	g.chr18:19751408delC	U66075	CCDS11872.1	18q11-q12	2013-01-25	2001-11-28		ENSG00000141448	ENSG00000141448		"""GATA zinc finger domain containing"""	4174	protein-coding gene	gene with protein product		601656	"""GATA-binding protein 6"""			8975704	Standard	XM_005258248		Approved		uc002ktt.2	Q92908	OTTHUMG00000131767	ENST00000269216.3:c.303delC	18.37:g.19751408delC	ENSP00000269216:p.Gly101fs					GATA6_ENST00000581694.1_Frame_Shift_Del_p.G101fs	p.G101fs	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	STAD - Stomach adenocarcinoma(5;0.106)		2	580	+	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		101					B0YJ17|P78327	Frame_Shift_Del	DEL	ENST00000269216.3	37	c.303delC	CCDS11872.1																																																																																				0.726	GATA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254696.1	NM_005257		2	4	2	4	---	---	---	---
