#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
ARID1A	8289	broad.mit.edu	37	1	27099013	27099013	+	Silent	SNP	G	G	C			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr1:27099013G>C	ENST00000324856.7	+	13	3800	c.3429G>C	c.(3427-3429)ggG>ggC	p.G1143G	ARID1A_ENST00000457599.2_Silent_p.G1143G|ARID1A_ENST00000540690.1_5'Flank|ARID1A_ENST00000374152.2_Silent_p.G760G	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1143					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)		CTATGCAGGGGCCCCAGACTC	0.527			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	uc001bmv.1		NA		Rec	yes		1	1p35.3	8289	Mis|N|F|S|D	AT rich interactive domain 1A (SWI-like)			E			clear cell ovarian carcinoma|RCC		0				ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)	142						c.(3427-3429)GGG>GGC		AT rich interactive domain 1A isoform a							80.0	78.0	79.0					1																	27099013		2203	4300	6503	SO:0001819	synonymous_variant	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.chr1:27099013G>C	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.3429G>C	1.37:g.27099013G>C						ARID1A_uc001bmt.1_Silent_p.G1143G|ARID1A_uc001bmu.1_Silent_p.G1143G|ARID1A_uc001bmw.1_Silent_p.G760G|ARID1A_uc001bmx.1_5'UTR|ARID1A_uc009vsm.1_5'Flank|ARID1A_uc009vsn.1_5'Flank	p.G1143G	NM_006015	NP_006006	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)	13	3802	+		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)	1143					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Silent	SNP	ENST00000324856.7	37	c.3429G>C	CCDS285.1	.	.	.	.	.	.	.	.	.	.	G	6.745	0.506352	0.12883	.	.	ENSG00000117713	ENST00000430799	.	.	.	5.16	3.29	0.37713	.	.	.	.	.	T	0.52208	0.1720	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44605	-0.9317	4	.	.	.	-7.9511	4.5573	0.12143	0.1419:0.1213:0.6121:0.1247	.	.	.	.	P	41	.	.	A	+	1	0	ARID1A	26971600	0.984000	0.35163	1.000000	0.80357	0.998000	0.95712	0.096000	0.15147	0.759000	0.33084	0.655000	0.94253	GCC		0.527	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		12	48	0	0	0	0	12	48				
CYP2J2	1573	broad.mit.edu	37	1	60381634	60381634	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr1:60381634G>A	ENST00000371204.3	-	2	392	c.349C>T	c.(349-351)Cga>Tga	p.R117*	CYP2J2_ENST00000492633.1_5'Flank	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2	117					arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	ATATGTTCTCGCATAGGGGTC	0.428																																						uc001czq.2		NA																	0				ovary(1)	1						c.(349-351)CGA>TGA		cytochrome P450, family 2, subfamily J,							104.0	107.0	106.0					1																	60381634		2203	4300	6503	SO:0001587	stop_gained	1573				epoxygenase P450 pathway|linoleic acid metabolic process|regulation of heart contraction|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	arachidonic acid 11,12-epoxygenase activity|arachidonic acid 14,15-epoxygenase activity|aromatase activity|electron carrier activity|heme binding|linoleic acid epoxygenase activity	g.chr1:60381634G>A	BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"""Cytochrome P450s"""	2634	protein-coding gene	gene with protein product		601258	"""cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"""			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.349C>T	1.37:g.60381634G>A	ENSP00000360247:p.Arg117*						p.R117*	NM_000775	NP_000766	P51589	CP2J2_HUMAN			2	354	-	all_cancers(7;0.000396)		117					B2RD33|Q8TF13	Nonsense_Mutation	SNP	ENST00000371204.3	37	c.349C>T	CCDS613.1	.	.	.	.	.	.	.	.	.	.	G	16.54	3.151059	0.57151	.	.	ENSG00000134716	ENST00000371204	.	.	.	5.8	1.59	0.23543	.	0.919945	0.09222	N	0.831807	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17832	T	0.49	.	14.4025	0.67056	0.0:0.0:0.3663:0.6337	.	.	.	.	X	117	.	ENSP00000360247:R117X	R	-	1	2	CYP2J2	60154222	0.000000	0.05858	0.001000	0.08648	0.000000	0.00434	-0.450000	0.06803	0.338000	0.23692	-0.158000	0.13435	CGA		0.428	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024940.1	NM_000775		15	98	0	0	0	0	15	98				
INADL	10207	broad.mit.edu	37	1	62593753	62593753	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr1:62593753C>T	ENST00000371158.2	+	40	5267	c.5153C>T	c.(5152-5154)aCa>aTa	p.T1718I	INADL_ENST00000472512.1_3'UTR	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1718	PDZ 10. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GCCGCACGGACACAGAAGCTT	0.488																																						uc001dab.2		NA																	0				ovary(3)|skin(1)	4						c.(5152-5154)ACA>ATA		InaD-like							77.0	74.0	75.0					1																	62593753		1933	4125	6058	SO:0001583	missense	10207				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding	g.chr1:62593753C>T	AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.5153C>T	1.37:g.62593753C>T	ENSP00000360200:p.Thr1718Ile					INADL_uc001dac.2_RNA|INADL_uc009wag.2_Missense_Mutation_p.T502I	p.T1718I	NM_176877	NP_795352	Q8NI35	INADL_HUMAN			40	5267	+			1718			PDZ 10.		O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	c.5153C>T	CCDS617.2	.	.	.	.	.	.	.	.	.	.	C	22.3	4.267767	0.80469	.	.	ENSG00000132849	ENST00000371158	T	0.27256	1.68	5.95	4.05	0.47172	PDZ/DHR/GLGF (4);	0.148963	0.41712	D	0.000827	T	0.44371	0.1290	L	0.55017	1.72	0.80722	D	1	D	0.76494	0.999	D	0.87578	0.998	T	0.32798	-0.9893	10	0.72032	D	0.01	.	11.5997	0.50995	0.0:0.8075:0.1256:0.0669	.	1718	Q8NI35	INADL_HUMAN	I	1718	ENSP00000360200:T1718I	ENSP00000360200:T1718I	T	+	2	0	INADL	62366341	1.000000	0.71417	0.220000	0.23810	0.968000	0.65278	7.449000	0.80643	0.811000	0.34303	0.650000	0.86243	ACA		0.488	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2	NM_170605		5	37	0	0	0	0	5	37				
LRIF1	55791	broad.mit.edu	37	1	111495258	111495258	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr1:111495258T>G	ENST00000369763.4	-	2	638	c.248A>C	c.(247-249)cAg>cCg	p.Q83P	LRIF1_ENST00000494675.1_5'UTR|RP11-96K19.2_ENST00000440689.1_RNA|LRIF1_ENST00000485275.2_Intron	NM_018372.3	NP_060842.3	Q5T3J3	LRIF1_HUMAN	ligand dependent nuclear receptor interacting factor 1	83					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin cytoskeleton (GO:0015629)|nucleus (GO:0005634)				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(1)|urinary_tract(2)	28						GCTGGAAATCTGAGTCTGAAA	0.378																																						uc001eaa.2		NA																	0					0						c.(247-249)CAG>CCG		receptor-interacting factor 1 isoform 1							76.0	75.0	75.0					1																	111495258		2203	4300	6503	SO:0001583	missense	55791				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding	g.chr1:111495258T>G	AY190122	CCDS30800.1, CCDS41366.1	1p13.3	2011-04-15	2011-04-15	2011-04-15	ENSG00000121931	ENSG00000121931			30299	protein-coding gene	gene with protein product	"""receptor interacting factor 1"""	615354	"""chromosome 1 open reading frame 103"""	C1orf103		17455211	Standard	NM_018372		Approved	RIF1, FLJ11269	uc001eaa.3	Q5T3J3	OTTHUMG00000011913	ENST00000369763.4:c.248A>C	1.37:g.111495258T>G	ENSP00000358778:p.Gln83Pro					C1orf103_uc001dzz.2_5'UTR|C1orf103_uc001eab.2_Intron|C1orf103_uc001eac.1_Intron	p.Q83P	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)	2	504	-		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)	83					Q86XS4|Q8N3B6|Q96HT4|Q9NUM5|Q9NV32	Missense_Mutation	SNP	ENST00000369763.4	37	c.248A>C	CCDS30800.1	.	.	.	.	.	.	.	.	.	.	T	13.52	2.261624	0.39995	.	.	ENSG00000121931	ENST00000369763	T	0.26373	1.74	5.52	5.52	0.82312	.	0.000000	0.64402	D	0.000016	T	0.10465	0.0256	L	0.32530	0.975	0.80722	D	1	P	0.35745	0.518	B	0.35510	0.204	T	0.05599	-1.0875	10	0.56958	D	0.05	-3.2485	9.778	0.40632	0.0:0.0:0.1733:0.8267	.	83	Q5T3J3	LRIF1_HUMAN	P	83	ENSP00000358778:Q83P	ENSP00000358778:Q83P	Q	-	2	0	LRIF1	111296781	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.631000	0.46502	2.115000	0.64714	0.383000	0.25322	CAG		0.378	LRIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000032932.2	NM_018372		11	35	0	0	0	0	11	35				
MROH9	80133	broad.mit.edu	37	1	170961470	170961470	+	Splice_Site	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr1:170961470G>A	ENST00000367758.3	+	12	1293	c.1194G>A	c.(1192-1194)gcG>gcA	p.A398A	MROH9_ENST00000367759.4_Splice_Site_p.A398A	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	398																	TGCCTTTGGCGGTAAATAACA	0.413																																						uc001ghg.2		NA																	0				pancreas(1)	1						c.(1192-1194)GCG>GCA		hypothetical protein LOC80133 isoform 2							146.0	144.0	145.0					1																	170961470		1925	4139	6064	SO:0001630	splice_region_variant	80133						binding	g.chr1:170961470G>A	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1194+1G>A	1.37:g.170961470G>A						C1orf129_uc009wvy.2_Silent_p.A205A|C1orf129_uc010plz.1_Silent_p.A398A	p.A398A	NM_025063	NP_079339	Q5TGP6	CA129_HUMAN			12	1324	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		398					A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Silent	SNP	ENST00000367758.3	37	c.1194G>A	CCDS41436.1	.	.	.	.	.	.	.	.	.	.	G	8.937	0.964805	0.18583	.	.	ENSG00000117501	ENST00000426136	.	.	.	5.61	3.48	0.39840	.	.	.	.	.	T	0.42177	0.1191	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39292	-0.9621	4	.	.	.	-2.2274	5.6826	0.17784	0.1076:0.2019:0.6904:0.0	.	.	.	.	S	5	.	.	G	+	1	0	C1orf129	169228094	1.000000	0.71417	1.000000	0.80357	0.182000	0.23217	0.566000	0.23593	2.644000	0.89710	0.591000	0.81541	GGC		0.413	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063	Silent	6	77	0	0	0	0	6	77				
DUSP5	1847	broad.mit.edu	37	10	112257918	112257918	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr10:112257918G>C	ENST00000369583.3	+	1	323	c.39G>C	c.(37-39)aaG>aaC	p.K13N	RP11-525A16.4_ENST00000609514.1_lincRNA	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	13					endoderm formation (GO:0001706)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		AGCTGCGCAAGATGCTCCGCA	0.766																																						uc001kzd.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(37-39)AAG>AAC		dual specificity phosphatase 5							13.0	15.0	14.0					10																	112257918		2055	4030	6085	SO:0001583	missense	1847				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	g.chr10:112257918G>C	U16996	CCDS7566.1	10q25	2011-06-09			ENSG00000138166	ENSG00000138166		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3071	protein-coding gene	gene with protein product		603069				7806236	Standard	NM_004419		Approved	HVH3	uc001kzd.3	Q16690	OTTHUMG00000019040	ENST00000369583.3:c.39G>C	10.37:g.112257918G>C	ENSP00000358596:p.Lys13Asn						p.K13N	NM_004419	NP_004410	Q16690	DUS5_HUMAN		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)	1	294	+		Breast(234;0.0848)	13					Q12997|Q5T603	Missense_Mutation	SNP	ENST00000369583.3	37	c.39G>C	CCDS7566.1	.	.	.	.	.	.	.	.	.	.	g	25.4	4.630813	0.87660	.	.	ENSG00000138166	ENST00000369583	T	0.42900	0.96	4.98	4.07	0.47477	Rhodanese-like (4);	0.050470	0.85682	D	0.000000	T	0.48714	0.1515	L	0.57536	1.79	0.48511	D	0.99966	D	0.58620	0.983	P	0.52109	0.69	T	0.41034	-0.9531	10	0.24483	T	0.36	.	13.8475	0.63477	0.0:0.0:0.8461:0.1539	.	13	Q16690	DUS5_HUMAN	N	13	ENSP00000358596:K13N	ENSP00000358596:K13N	K	+	3	2	DUSP5	112247908	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.008000	0.40893	1.075000	0.40932	0.461000	0.40582	AAG		0.766	DUSP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050333.1	NM_004419		8	24	0	0	0	0	8	24				
METTL15	196074	broad.mit.edu	37	11	28318421	28318421	+	Nonsense_Mutation	SNP	C	C	T	rs564068143		TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr11:28318421C>T	ENST00000407364.3	+	6	1073	c.721C>T	c.(721-723)Cag>Tag	p.Q241*	METTL15_ENST00000303459.6_Nonsense_Mutation_p.Q241*|METTL15_ENST00000342303.5_Nonsense_Mutation_p.Q241*|METTL15_ENST00000406787.3_Missense_Mutation_p.S226L			A6NJ78	MET15_HUMAN	methyltransferase like 15	241							methyltransferase activity (GO:0008168)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	14						AGCAATTGTTCAGGCACGCAG	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		19446	0.001		0.0	False		,,,				2504	0.0					uc001msh.2		NA																	0					0						c.(721-723)CAG>TAG		methyltransferase 5 domain containing 1 isoform							120.0	106.0	111.0					11																	28318421		2202	4299	6501	SO:0001587	stop_gained	196074						methyltransferase activity	g.chr11:28318421C>T	AL832668	CCDS31450.1, CCDS44559.1, CCDS73269.1	11p14.1	2011-03-02	2011-03-02	2011-03-02	ENSG00000169519	ENSG00000169519			26606	protein-coding gene	gene with protein product			"""methyltransferase 5 domain containing 1"""	METT5D1		12477932	Standard	NM_152636		Approved	FLJ33979	uc001msh.2	A6NJ78	OTTHUMG00000150448	ENST00000407364.3:c.721C>T	11.37:g.28318421C>T	ENSP00000384369:p.Gln241*					METT5D1_uc001msg.2_Nonsense_Mutation_p.Q241*|METT5D1_uc001mse.2_Missense_Mutation_p.S226L|METT5D1_uc001msi.2_Nonsense_Mutation_p.Q38*	p.Q241*	NM_001113528	NP_001107000	A6NJ78	MET15_HUMAN			6	1176	+			241					A8MRS5|B7WNU2|Q3MHD3|Q8N601|Q8NBA7	Nonsense_Mutation	SNP	ENST00000407364.3	37	c.721C>T	CCDS44559.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	39|39	7.604940|7.604940	0.98384|0.98384	.|.	.|.	ENSG00000169519|ENSG00000169519	ENST00000342303;ENST00000407364;ENST00000303459|ENST00000406787	.|T	.|0.30448	.|1.53	5.43|5.43	4.5|4.5	0.54988|0.54988	.|.	0.315541|.	0.32459|.	N|.	0.006079|.	.|T	.|0.28566	.|0.0707	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|P	.|0.41848	.|0.763	.|B	.|0.39738	.|0.308	.|T	.|0.02411	.|-1.1163	.|7	.|.	.|.	.|.	.|.	15.1415|15.1415	0.72615|0.72615	0.0:0.8581:0.1419:0.0|0.0:0.8581:0.1419:0.0	.|.	.|226	.|A6NJ78-4	.|.	X|L	241|226	.|ENSP00000385507:S226L	.|.	Q|S	+|+	1|2	0|0	METTL15|METTL15	28274997|28274997	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.992000|0.992000	0.81027|0.81027	3.827000|3.827000	0.55745|0.55745	1.216000|1.216000	0.43427|0.43427	0.650000|0.650000	0.86243|0.86243	CAG|TCA		0.453	METTL15-003	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318135.2	NM_152636		11	68	0	0	0	0	11	68				
MADD	8567	broad.mit.edu	37	11	47305994	47305994	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr11:47305994C>A	ENST00000311027.5	+	12	2200	c.2035C>A	c.(2035-2037)Cag>Aag	p.Q679K	MADD_ENST00000407859.3_Missense_Mutation_p.Q679K|MADD_ENST00000395344.3_Missense_Mutation_p.Q679K|MADD_ENST00000402799.1_Missense_Mutation_p.Q679K|MADD_ENST00000406482.1_Missense_Mutation_p.Q679K|MADD_ENST00000342922.4_Missense_Mutation_p.Q679K|MADD_ENST00000402192.2_Missense_Mutation_p.Q679K|MADD_ENST00000349238.3_Missense_Mutation_p.Q679K|MADD_ENST00000395336.3_Missense_Mutation_p.Q679K	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GCTGCAGAATCAGAAGGAAGC	0.592																																						uc001ner.1		NA																	0				ovary(5)|skin(4)|central_nervous_system(2)	11						c.(2035-2037)CAG>AAG		MAP-kinase activating death domain-containing							78.0	83.0	81.0					11																	47305994		2201	4298	6499	SO:0001583	missense	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47305994C>A	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.2035C>A	11.37:g.47305994C>A	ENSP00000310933:p.Gln679Lys					MADD_uc001neq.2_Missense_Mutation_p.Q679K|MADD_uc001nev.1_Missense_Mutation_p.Q679K|MADD_uc001nes.1_Missense_Mutation_p.Q679K|MADD_uc001net.1_Missense_Mutation_p.Q679K|MADD_uc009yln.1_Missense_Mutation_p.Q679K|MADD_uc001neu.1_Missense_Mutation_p.Q679K|MADD_uc001nex.2_Missense_Mutation_p.Q679K|MADD_uc001nez.2_Missense_Mutation_p.Q679K|MADD_uc001new.2_Missense_Mutation_p.Q679K	p.Q679K	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	12	2226	+			679						Missense_Mutation	SNP	ENST00000311027.5	37	c.2035C>A	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.993769	0.35131	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192	T;T;T;T;T;T;T;T;T	0.05649	3.56;3.45;3.45;3.56;3.56;3.41;3.45;3.56;3.56	5.96	5.96	0.96718	.	0.918311	0.09568	N	0.784571	T	0.03695	0.0105	N	0.08118	0	0.80722	D	1	B;B;B;B;B;B;B;B;B;B	0.15141	0.005;0.0;0.002;0.0;0.0;0.0;0.001;0.012;0.001;0.001	B;B;B;B;B;B;B;B;B;B	0.17979	0.006;0.0;0.014;0.001;0.001;0.0;0.007;0.02;0.006;0.007	T	0.47018	-0.9149	10	0.12103	T	0.63	-4.7229	7.8312	0.29344	0.0:0.8128:0.0:0.1872	.	679;679;679;679;679;679;679;679;679;679	B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;MADD_HUMAN;.	K	679	ENSP00000343902:Q679K;ENSP00000385585:Q679K;ENSP00000384435:Q679K;ENSP00000304505:Q679K;ENSP00000310933:Q679K;ENSP00000384204:Q679K;ENSP00000378753:Q679K;ENSP00000378745:Q679K;ENSP00000384287:Q679K	ENSP00000310933:Q679K	Q	+	1	0	MADD	47262570	1.000000	0.71417	0.966000	0.40874	0.968000	0.65278	4.541000	0.60670	2.832000	0.97577	0.655000	0.94253	CAG		0.592	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			28	40	1	0	8.58e-18	4.31e-17	28	40				
IL18BP	10068	broad.mit.edu	37	11	71715073	71715073	+	IGR	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr11:71715073G>A	ENST00000393703.4	+	0	1788				NUMA1_ENST00000358965.6_Missense_Mutation_p.R2052W|NUMA1_ENST00000393695.3_Missense_Mutation_p.R2066W|NUMA1_ENST00000351960.6_Missense_Mutation_p.R930W	NM_001039660.1	NP_001034749.1	O95998	I18BP_HUMAN	interleukin 18 binding protein						cellular response to hydrogen peroxide (GO:0070301)|cellular response to tumor necrosis factor (GO:0071356)|extracellular negative regulation of signal transduction (GO:1900116)|response to lipopolysaccharide (GO:0032496)|T-helper 1 type immune response (GO:0042088)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	interleukin-18 binding (GO:0042007)|receptor antagonist activity (GO:0048019)			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)	7						GAGGCTCCCCGCCGCAGAAGG	0.647																																						uc001orl.1		NA								T					RARA		APL		0				ovary(3)|lung(2)|skin(2)|central_nervous_system(1)	8						c.(6196-6198)CGG>TGG		nuclear mitotic apparatus protein 1							90.0	104.0	100.0					11																	71715073		2200	4293	6493	SO:0001628	intergenic_variant	4926				G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity	g.chr11:71715073G>A	AF110798	CCDS8206.2, CCDS44666.1	11q13	2013-01-11			ENSG00000137496	ENSG00000137496		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5987	protein-coding gene	gene with protein product	"""MC51L-53L-54L homolog gene product"""	604113				10023777	Standard	NM_001145055		Approved	IL18BPa	uc001orf.1	O95998	OTTHUMG00000133713		11.37:g.71715073G>A						IL18BP_uc009ysu.1_Intron|NUMA1_uc001orj.2_Missense_Mutation_p.R248W|NUMA1_uc009ysw.1_Missense_Mutation_p.R1633W|NUMA1_uc001ork.1_Missense_Mutation_p.R930W|NUMA1_uc001orm.1_Missense_Mutation_p.R2052W	p.R2066W	NM_006185	NP_006176	Q14980	NUMA1_HUMAN			26	6368	-			2066					B3KUZ0|B7WPK4|O95993|O96027|Q9NZA9|Q9UBR7	Missense_Mutation	SNP	ENST00000393703.4	37	c.6196C>T	CCDS8206.2	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811068	0.70797	.	.	ENSG00000137497	ENST00000351960;ENST00000358965;ENST00000393695;ENST00000359652;ENST00000536544	T;T;T	0.27557	1.66;2.12;2.14	4.08	1.79	0.24919	.	0.140133	0.33180	N	0.005198	T	0.40839	0.1133	L	0.29908	0.895	0.35897	D	0.830089	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.77557	0.971;0.976;0.971;0.99	T	0.51756	-0.8665	10	0.87932	D	0	.	13.0338	0.58859	0.0:0.0:0.5591:0.4409	.	2072;2052;2066;930	Q4LE64;Q14980-2;Q14980;Q9BTE9	.;.;NUMA1_HUMAN;.	W	930;2052;2066;1615;1039	ENSP00000260051:R930W;ENSP00000351851:R2052W;ENSP00000377298:R2066W	ENSP00000260051:R930W	R	-	1	2	NUMA1	71392721	1.000000	0.71417	0.998000	0.56505	0.962000	0.63368	0.416000	0.21198	0.380000	0.24823	0.655000	0.94253	CGG		0.647	IL18BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258012.2	NM_173042		24	136	0	0	0	0	24	136				
FAT3	120114	broad.mit.edu	37	11	92088363	92088363	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr11:92088363G>T	ENST00000298047.6	+	1	3102	c.3085G>T	c.(3085-3087)Gtg>Ttg	p.V1029L	FAT3_ENST00000409404.2_Missense_Mutation_p.V1029L|FAT3_ENST00000525166.1_Missense_Mutation_p.V879L|FAT3_ENST00000541502.1_Missense_Mutation_p.V1029L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1029	Cadherin 9. {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)				CTTTGTTGAGGTGGAAGTGGT	0.458										TCGA Ovarian(4;0.039)																												uc001pdj.3		NA																	0				ovary(4)|pancreas(1)	5						c.(3085-3087)GTG>TTG		FAT tumor suppressor homolog 3							102.0	101.0	101.0					11																	92088363		1965	4152	6117	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92088363G>T	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.3085G>T	11.37:g.92088363G>T	ENSP00000298047:p.Val1029Leu	TCGA Ovarian(4;0.039)					p.V1029L	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			1	3102	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1029			Cadherin 9.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.3085G>T		.	.	.	.	.	.	.	.	.	.	G	12.42	1.932428	0.34096	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502;ENST00000525166	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.82	5.82	0.92795	.	.	.	.	.	T	0.71273	0.3320	L	0.58101	1.795	0.36705	D	0.880353	B	0.22276	0.067	B	0.25140	0.058	T	0.72316	-0.4330	9	0.72032	D	0.01	.	19.0835	0.93192	0.0:0.0:1.0:0.0	.	1029	Q8TDW7-3	.	L	1029;1029;1029;879	ENSP00000298047:V1029L;ENSP00000387040:V1029L;ENSP00000443786:V1029L;ENSP00000432586:V879L	ENSP00000298047:V1029L	V	+	1	0	FAT3	91728011	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.295000	0.59049	2.767000	0.95098	0.655000	0.94253	GTG		0.458	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		7	38	1	0	8.13e-05	0.000379993	7	38				
PTPRB	5787	broad.mit.edu	37	12	70974931	70974931	+	Silent	SNP	A	A	G			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr12:70974931A>G	ENST00000261266.5	-	8	1838	c.1809T>C	c.(1807-1809)agT>agC	p.S603S	PTPRB_ENST00000334414.6_Silent_p.S821S|PTPRB_ENST00000550857.1_Silent_p.S513S|PTPRB_ENST00000551525.1_Silent_p.S820S|PTPRB_ENST00000451516.2_Silent_p.S513S|PTPRB_ENST00000550358.1_Silent_p.S821S|PTPRB_ENST00000538708.1_Silent_p.S603S	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	603	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGCTGGTCTCACTGGAGATGC	0.473																																						uc001swb.3		NA																	0				lung(2)|skin(1)	3						c.(1807-1809)AGT>AGC		protein tyrosine phosphatase, receptor type, B							149.0	151.0	150.0					12																	70974931		1946	4145	6091	SO:0001819	synonymous_variant	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70974931A>G	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.1809T>C	12.37:g.70974931A>G						PTPRB_uc010sto.1_Silent_p.S603S|PTPRB_uc010stp.1_Silent_p.S513S|PTPRB_uc001swc.3_Silent_p.S821S|PTPRB_uc001swa.3_Silent_p.S821S|PTPRB_uc001swd.3_Silent_p.S820S|PTPRB_uc009zrr.1_Silent_p.S700S	p.S603S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		8	1839	-	Renal(347;0.236)		603			Fibronectin type-III 7.|Extracellular (Potential).		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000261266.5	37	c.1809T>C	CCDS44944.1																																																																																				0.473	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			16	78	0	0	0	0	16	78				
DIAPH3	81624	broad.mit.edu	37	13	60584694	60584694	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr13:60584694G>A	ENST00000400324.4	-	8	1101	c.881C>T	c.(880-882)gCg>gTg	p.A294V	DIAPH3_ENST00000267215.4_Missense_Mutation_p.A294V|DIAPH3_ENST00000400319.1_Missense_Mutation_p.A224V|DIAPH3_ENST00000400330.1_Missense_Mutation_p.A294V|DIAPH3-AS1_ENST00000432995.1_RNA|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3-AS1_ENST00000422052.1_RNA|DIAPH3_ENST00000400320.1_Missense_Mutation_p.A248V|DIAPH3_ENST00000377908.2_Missense_Mutation_p.A283V|DIAPH3-AS1_ENST00000435636.1_RNA	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	294	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AATGCATACCGCAGAGAGAAG	0.368																																						uc001vht.2		NA																	0				ovary(2)	2						c.(880-882)GCG>GTG		diaphanous homolog 3 isoform a							47.0	46.0	46.0					13																	60584694		1853	4099	5952	SO:0001583	missense	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60584694G>A	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.881C>T	13.37:g.60584694G>A	ENSP00000383178:p.Ala294Val					DIAPH3_uc001vhu.2_Missense_Mutation_p.A31V|DIAPH3_uc001vhw.1_Missense_Mutation_p.A283V|DIAPH3_uc010aed.1_Missense_Mutation_p.A248V|DIAPH3_uc010aee.1_Missense_Mutation_p.A224V|uc001vhx.2_5'Flank|uc001vhy.2_5'Flank	p.A294V	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	8	1100	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	294			GBD/FH3.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	c.881C>T	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	G	34	5.329323	0.95733	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	D;D;D;D;D;D	0.90197	-2.63;-2.63;-2.63;-2.63;-2.63;-2.63	5.81	5.81	0.92471	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.108661	0.64402	D	0.000007	D	0.95890	0.8662	M	0.83953	2.67	0.53005	D	0.999969	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.998;0.998;0.996;0.977	D	0.95861	0.8883	10	0.87932	D	0	.	19.6863	0.95981	0.0:0.0:1.0:0.0	.	224;248;283;31;294	A8MYX0;C9JL55;C9JDG1;Q9NSV4-1;Q9NSV4	.;.;.;.;DIAP3_HUMAN	V	294;294;283;248;224;283;224;248;294;31;294	ENSP00000383178:A294V;ENSP00000383184:A294V;ENSP00000367141:A283V;ENSP00000383173:A224V;ENSP00000383174:A248V;ENSP00000267215:A294V	ENSP00000267214:A31V	A	-	2	0	DIAPH3	59482695	1.000000	0.71417	0.929000	0.37066	0.975000	0.68041	9.393000	0.97256	2.746000	0.94184	0.591000	0.81541	GCG		0.368	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		7	23	0	0	0	0	7	23				
PCNX	22990	broad.mit.edu	37	14	71444780	71444780	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr14:71444780C>T	ENST00000304743.2	+	6	2172	c.1726C>T	c.(1726-1728)Cgg>Tgg	p.R576W	PCNX_ENST00000439984.3_Missense_Mutation_p.R576W|PCNX_ENST00000238570.5_Missense_Mutation_p.R576W	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	576						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TGATTCAAGCCGGCATAGGGA	0.473																																						uc001xmo.2		NA																	0				ovary(1)	1						c.(1726-1728)CGG>TGG		pecanex-like 1							105.0	103.0	104.0					14																	71444780		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71444780C>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.1726C>T	14.37:g.71444780C>T	ENSP00000304192:p.Arg576Trp					PCNX_uc001xmn.3_Missense_Mutation_p.R576W|PCNX_uc010are.1_Missense_Mutation_p.R576W	p.R576W	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	6	2172	+			576					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.1726C>T	CCDS9806.1	.	.	.	.	.	.	.	.	.	.	C	15.05	2.716869	0.48622	.	.	ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984	T;T;T	0.01025	5.43;5.43;5.43	5.87	5.87	0.94306	.	0.065266	0.56097	D	0.000030	T	0.02929	0.0087	L	0.29908	0.895	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.993;0.993;0.989	T	0.62618	-0.6816	10	0.72032	D	0.01	.	14.9807	0.71309	0.1425:0.8575:0.0:0.0	.	576;576;576	B2RTR6;Q96RV3;Q96RV3-2	.;PCX1_HUMAN;.	W	576	ENSP00000304192:R576W;ENSP00000238570:R576W;ENSP00000396617:R576W	ENSP00000238570:R576W	R	+	1	2	PCNX	70514533	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	3.337000	0.52120	2.779000	0.95612	0.655000	0.94253	CGG		0.473	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		5	135	0	0	0	0	5	135				
UNC79	57578	broad.mit.edu	37	14	94069729	94069729	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr14:94069729C>T	ENST00000393151.2	+	26	3719	c.3719C>T	c.(3718-3720)gCg>gTg	p.A1240V	UNC79_ENST00000256339.4_Missense_Mutation_p.A1063V|UNC79_ENST00000555664.1_Missense_Mutation_p.A1240V|UNC79_ENST00000553484.1_Missense_Mutation_p.A1240V			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1240					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCCAAGAGGGCGCTCTCCCTC	0.493																																						uc001ybv.1		NA																	0				ovary(10)|skin(4)|large_intestine(3)	17						c.(3187-3189)GCG>GTG		hypothetical protein LOC57578							114.0	103.0	106.0					14																	94069729		2203	4300	6503	SO:0001583	missense	57578					integral to membrane		g.chr14:94069729C>T	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3719C>T	14.37:g.94069729C>T	ENSP00000376858:p.Ala1240Val					KIAA1409_uc001ybs.1_Missense_Mutation_p.A1063V	p.A1063V	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	23	3271	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	1240					B5MDL6|Q6ZUT7	Missense_Mutation	SNP	ENST00000393151.2	37	c.3188C>T		.	.	.	.	.	.	.	.	.	.	C	32	5.169329	0.94768	.	.	ENSG00000133958	ENST00000256339;ENST00000555664;ENST00000553484;ENST00000393151;ENST00000393153	T;T;T;T	0.21734	2.04;2.01;1.99;2.04	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.35335	0.0928	N	0.19112	0.55	0.58432	D	0.999994	D	0.89917	1.0	D	0.76071	0.987	T	0.14643	-1.0465	10	0.66056	D	0.02	-15.4773	20.2723	0.98479	0.0:1.0:0.0:0.0	.	1240	C9JQL1	.	V	1063;1240;1240;1240;1240	ENSP00000256339:A1063V;ENSP00000450868:A1240V;ENSP00000451360:A1240V;ENSP00000376858:A1240V	ENSP00000256339:A1063V	A	+	2	0	KIAA1409	93139482	1.000000	0.71417	0.976000	0.42696	0.949000	0.60115	7.794000	0.85869	2.793000	0.96121	0.563000	0.77884	GCG		0.493	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		13	77	0	0	0	0	13	77				
GABRB3	2562	broad.mit.edu	37	15	26812809	26812809	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr15:26812809T>C	ENST00000311550.5	-	7	865	c.754A>G	c.(754-756)Atg>Gtg	p.M252V	GABRB3_ENST00000400188.3_Missense_Mutation_p.M181V|GABRB3_ENST00000545868.1_Missense_Mutation_p.M167V|GABRB3_ENST00000299267.4_Missense_Mutation_p.M252V|GABRB3_ENST00000541819.2_Missense_Mutation_p.M308V	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	252					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ATAGAGGGCATATAAGTCTGA	0.428																																						uc001zaz.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|lung(1)|liver(1)|central_nervous_system(1)	5						c.(754-756)ATG>GTG		gamma-aminobutyric acid (GABA) A receptor, beta	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						135.0	114.0	121.0					15																	26812809		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26812809T>C		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.754A>G	15.37:g.26812809T>C	ENSP00000308725:p.Met252Val					GABRB3_uc010uae.1_Missense_Mutation_p.M167V|GABRB3_uc001zba.2_Missense_Mutation_p.M252V|GABRB3_uc001zbb.2_Missense_Mutation_p.M308V	p.M252V	NM_000814	NP_000805	P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	7	896	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	252			Helical; (Probable).		B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.754A>G	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	T	14.22	2.469382	0.43839	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868	D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86	6.06	6.06	0.98353	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	T	0.77705	0.4170	N	0.21097	0.63	0.80722	D	1	B;B;B	0.32526	0.324;0.324;0.374	B;B;B	0.31101	0.122;0.076;0.124	T	0.77781	-0.2459	10	0.54805	T	0.06	.	15.7938	0.78394	0.0:0.0:0.0:1.0	.	308;252;252	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	V	252;308;252;181;167	ENSP00000308725:M252V;ENSP00000442408:M308V;ENSP00000299267:M252V;ENSP00000383049:M181V;ENSP00000439169:M167V	ENSP00000299267:M252V	M	-	1	0	GABRB3	24363902	1.000000	0.71417	1.000000	0.80357	0.429000	0.31625	7.926000	0.87569	2.322000	0.78497	0.528000	0.53228	ATG		0.428	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			9	30	0	0	0	0	9	30				
TUBB3	10381	broad.mit.edu	37	16	90001360	90001360	+	Silent	SNP	C	C	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr16:90001360C>T	ENST00000315491.7	+	4	624	c.501C>T	c.(499-501)ttC>ttT	p.F167F	TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000556922.1_Silent_p.F514F|TUBB3_ENST00000554444.1_Silent_p.F95F|TUBB3_ENST00000304984.5_Silent_p.F95F	NM_006086.3	NP_006077.2	Q13509	TBB3_HUMAN	tubulin, beta 3 class III	167					'de novo' posttranslational protein folding (GO:0051084)|axon guidance (GO:0007411)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)	Ixabepilone(DB04845)	TGAACACCTTCAGCGTCGTGC	0.627																																						uc002fph.1		NA																	0				ovary(2)|pancreas(1)	3						c.(499-501)TTC>TTT		tubulin, beta, 4							189.0	147.0	161.0					16																	90001360		2198	4300	6498	SO:0001819	synonymous_variant	10381				'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr16:90001360C>T	BC000748	CCDS10988.1, CCDS56012.1	16q24.3	2014-02-04	2011-10-10		ENSG00000198211	ENSG00000198211		"""Tubulins"""	20772	protein-coding gene	gene with protein product	"""class III beta-tubulin"""	602661	"""tubulin, beta 3"", ""fibrosis of extraocular muscles, congenital, 3"""	FEOM3		9473684, 8098743, 20074521	Standard	NM_006086		Approved	beta-4, CFEOM3, CFEOM3A	uc002fph.2	Q13509	OTTHUMG00000138985	ENST00000315491.7:c.501C>T	16.37:g.90001360C>T						TUBB3_uc002fpf.2_Silent_p.F514F|TUBB3_uc010ciz.1_Silent_p.F95F|TUBB3_uc002fpg.1_Silent_p.F21F|TUBB3_uc002fpi.1_Silent_p.F95F|TUBB3_uc002fpj.1_Silent_p.F95F|TUBB3_uc010cjb.1_Silent_p.F21F|TUBB3_uc002fpk.1_Silent_p.F21F	p.F167F	NM_006086	NP_006077	Q13509	TBB3_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0273)	4	566	+		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)	167					A8K854|Q9BTZ0|Q9BW10	Silent	SNP	ENST00000315491.7	37	c.501C>T	CCDS10988.1																																																																																				0.627	TUBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000272874.1	NM_006086		19	123	0	0	0	0	19	123				
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			C|||	1	0.000199681	0.0	0.0	5008	,	,		18620	0.0		0.001	False		,,,				2504	0.0				Pancreas(47;798 1329 9957 10801)	uc002gim.2	R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	Mis|N|F	tumor protein p53			"""L, E, M, O"""		breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types	breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types		669	Substitution - Missense(647)|Whole gene deletion(8)|Deletion - Frameshift(6)|Deletion - In frame(5)|Unknown(2)|Insertion - Frameshift(1)	p.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	large_intestine(136)|lung(99)|breast(74)|ovary(59)|upper_aerodigestive_tract(55)|central_nervous_system(46)|oesophagus(35)|haematopoietic_and_lymphoid_tissue(30)|stomach(26)|urinary_tract(25)|pancreas(15)|endometrium(13)|liver(12)|skin(11)|bone(9)|biliary_tract(7)|penis(4)|cervix(2)|genital_tract(2)|NS(2)|soft_tissue(2)|vulva(1)|thyroid(1)|fallopian_tube(1)|prostate(1)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM004342|CM010472|CM920677	TP53	M	rs28934576	c.(817-819)CGT>CAT	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							67.0	58.0	61.0					17																	7577120		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577120C>T	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.818G>A	17.37:g.7577120C>T	ENSP00000269305:p.Arg273His	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H	p.R273H	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	1012	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).	Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	c.818G>A	CCDS11118.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	C	18.03	3.532510	0.64972	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	4.92	4.92	0.64577	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99822	0.9921	M	0.79475	2.455	0.80722	A	1	P;D;P;P	0.89917	0.631;1.0;0.831;0.48	B;D;P;B	0.77004	0.274;0.989;0.516;0.242	D	0.96531	0.9393	9	0.72032	D	0.01	-11.9995	15.662	0.77193	0.0:1.0:0.0:0.0	rs28934576	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	H	273;273;273;273;273;262;141	ENSP00000352610:R273H;ENSP00000269305:R273H;ENSP00000398846:R273H;ENSP00000391127:R273H;ENSP00000391478:R273H;ENSP00000425104:R141H	ENSP00000269305:R273H	R	-	2	0	TP53	7517845	1.000000	0.71417	0.068000	0.19968	0.665000	0.39181	7.587000	0.82613	2.556000	0.86216	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		15	17	0	0	0	0	15	17				
ADAP2	55803	broad.mit.edu	37	17	29261281	29261281	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr17:29261281G>C	ENST00000330889.3	+	5	811	c.476G>C	c.(475-477)aGa>aCa	p.R159T	ADAP2_ENST00000580525.1_Missense_Mutation_p.R165T	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	159	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				heart development (GO:0007507)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|mitochondrial envelope (GO:0005740)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|inositol 1,3,4,5 tetrakisphosphate binding (GO:0043533)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein binding, bridging (GO:0030674)|zinc ion binding (GO:0008270)	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CTTCTGGCAAGAGAAGGCCTC	0.483																																						uc002hfx.2		NA																	1	Unknown(1)	p.?(1)	central_nervous_system(1)	ovary(1)	1						c.(475-477)AGA>ACA		centaurin-alpha 2 protein							93.0	77.0	83.0					17																	29261281		2203	4300	6503	SO:0001583	missense	55803				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	g.chr17:29261281G>C	AJ238994	CCDS11261.1	17q11.2	2013-01-10	2008-09-22	2008-09-22	ENSG00000184060	ENSG00000184060		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	16487	protein-coding gene	gene with protein product		608635	"""centaurin, alpha 2"""	CENTA2			Standard	XM_005258008		Approved		uc002hfx.3	Q9NPF8	OTTHUMG00000132868	ENST00000330889.3:c.476G>C	17.37:g.29261281G>C	ENSP00000329468:p.Arg159Thr					ADAP2_uc010csk.2_Missense_Mutation_p.R165T|ADAP2_uc002hfy.2_Missense_Mutation_p.R159T|ADAP2_uc010csl.2_RNA	p.R159T	NM_018404	NP_060874	Q9NPF8	ADAP2_HUMAN			5	755	+			159			PH 1.		Q8N4Q6|Q96SD5	Missense_Mutation	SNP	ENST00000330889.3	37	c.476G>C	CCDS11261.1	.	.	.	.	.	.	.	.	.	.	G	7.883	0.730748	0.15507	.	.	ENSG00000184060	ENST00000330889	T	0.23348	1.91	5.72	5.72	0.89469	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.524819	0.21421	N	0.074815	T	0.23806	0.0576	L	0.48174	1.505	0.46416	D	0.99903	B;B;B	0.31769	0.339;0.205;0.231	B;B;B	0.27500	0.026;0.071;0.08	T	0.02404	-1.1164	10	0.26408	T	0.33	.	15.3693	0.74551	0.0:0.0:1.0:0.0	.	165;159;159	Q2V6Q1;Q9NPF8-2;Q9NPF8	.;.;ADAP2_HUMAN	T	159	ENSP00000329468:R159T	ENSP00000329468:R159T	R	+	2	0	ADAP2	26285407	0.931000	0.31567	0.992000	0.48379	0.036000	0.12997	1.805000	0.38883	2.705000	0.92388	0.655000	0.94253	AGA		0.483	ADAP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256346.1	NM_018404		13	11	0	0	0	0	13	11				
ABCC3	8714	broad.mit.edu	37	17	48745371	48745371	+	Splice_Site	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr17:48745371G>A	ENST00000285238.8	+	13	1862		c.e13+1			NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3						bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Doxorubicin(DB00997)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indomethacin(DB00328)|Lamivudine(DB00709)|Leucovorin(DB00650)|Methotrexate(DB00563)|Metyrapone(DB01011)|Nifedipine(DB01115)|Omeprazole(DB00338)|Phenobarbital(DB01174)|Probenecid(DB01032)|Rifampicin(DB01045)|Sulfinpyrazone(DB01138)|Verapamil(DB00661)|Vincristine(DB00541)	CCTGACTCAGGTAACCCTGGG	0.527																																						uc002isl.2		NA																	0				skin(3)|central_nervous_system(1)	4						c.e13+1		ATP-binding cassette, sub-family C, member 3	Glibenclamide(DB01016)						102.0	92.0	96.0					17																	48745371		2203	4300	6503	SO:0001630	splice_region_variant	8714				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity	g.chr17:48745371G>A	Y17151	CCDS32681.1, CCDS45739.1	17q21	2012-03-14			ENSG00000108846	ENSG00000108846		"""ATP binding cassette transporters / subfamily C"""	54	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter 2"""	604323				8894702, 9827529	Standard	NM_003786		Approved	MRP3, cMOAT2, EST90757, MLP2, MOAT-D	uc002isl.3	O15438	OTTHUMG00000162245	ENST00000285238.8:c.1782+1G>A	17.37:g.48745371G>A							p.Q594_splice	NM_003786	NP_003777	O15438	MRP3_HUMAN	BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		13	1862	+								B2RPA9|D3DTX9|O60265|O60922|O75621|O95078|O95289|O95290|Q86X85|Q9UN52	Splice_Site	SNP	ENST00000285238.8	37	c.1782_splice	CCDS32681.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.968102	0.92855	.	.	ENSG00000108846	ENST00000285238	.	.	.	4.17	4.17	0.49024	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.0605	0.86546	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCC3	46100370	1.000000	0.71417	0.997000	0.53966	0.795000	0.44927	9.657000	0.98554	2.336000	0.79503	0.591000	0.81541	.		0.527	ABCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368083.2	NM_020038	Intron	16	34	0	0	0	0	16	34				
TUBD1	51174	broad.mit.edu	37	17	57968230	57968230	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr17:57968230G>C	ENST00000592426.1	-	1	134	c.134C>G	c.(133-135)tCt>tGt	p.S45C	RPS6KB1_ENST00000225577.4_5'Flank|RPS6KB1_ENST00000406116.3_5'Flank|RPS6KB1_ENST00000443572.2_5'Flank|TUBD1_ENST00000376094.4_Missense_Mutation_p.S45C|TUBD1_ENST00000394239.3_Missense_Mutation_p.S45C|TUBD1_ENST00000346141.6_Missense_Mutation_p.S45C|TUBD1_ENST00000325752.3_Missense_Mutation_p.S45C|TUBD1_ENST00000539018.1_Intron|TUBD1_ENST00000591611.1_5'UTR|RPS6KB1_ENST00000393021.3_5'Flank|TUBD1_ENST00000340993.6_Missense_Mutation_p.S45C			Q9UJT1	TBD_HUMAN	tubulin, delta 1	45					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|protein polymerization (GO:0051258)|spermatogenesis (GO:0007283)	centriole (GO:0005814)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		Vinblastine(DB00570)	TTCTTTGCAAGATGCTTGATA	0.468																																						uc002ixw.1		NA																	0				ovary(1)	1						c.(133-135)TCT>TGT		delta-tubulin							198.0	189.0	192.0					17																	57968230		2203	4300	6503	SO:0001583	missense	51174				cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	g.chr17:57968230G>C	AF201333	CCDS11620.1, CCDS54151.1, CCDS54152.1, CCDS54153.1, CCDS54154.1	17q23.1	2007-03-16						"""Tubulins"""	16811	protein-coding gene	gene with protein product		607344				10620804	Standard	NM_016261		Approved	FLJ12709, TUBD	uc002ixw.2	Q9UJT1		ENST00000592426.1:c.134C>G	17.37:g.57968230G>C	ENSP00000468518:p.Ser45Cys					TUBD1_uc010ddf.1_Missense_Mutation_p.S45C|TUBD1_uc010ddg.1_Missense_Mutation_p.S10C|TUBD1_uc010ddh.1_Translation_Start_Site|TUBD1_uc010wok.1_Missense_Mutation_p.S45C|TUBD1_uc002ixx.1_Missense_Mutation_p.S45C|TUBD1_uc010wol.1_Intron|TUBD1_uc010ddi.1_Missense_Mutation_p.S45C|RPS6KB1_uc010ddj.1_5'Flank|RPS6KB1_uc002ixy.2_5'Flank|RPS6KB1_uc010wom.1_5'Flank|RPS6KB1_uc010won.1_5'Flank	p.S45C	NM_016261	NP_057345	Q9UJT1	TBD_HUMAN	Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)		2	412	-	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		45					B4DPT8|B4DW01|D3DU02|E9PCA7|E9PCQ8|Q5KU36|Q9BWG9|Q9H7Z8	Missense_Mutation	SNP	ENST00000592426.1	37	c.134C>G	CCDS11620.1	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230718	0.58777	.	.	ENSG00000108423	ENST00000325752;ENST00000340993;ENST00000346141;ENST00000394239;ENST00000376094	T;T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52;-0.52	5.74	4.76	0.60689	Tubulin/FtsZ, GTPase domain (3);	0.235724	0.43260	D	0.000583	T	0.57917	0.2086	L	0.32530	0.975	0.25720	N	0.985387	B;B;B;B;B	0.22003	0.015;0.004;0.003;0.051;0.063	B;B;B;B;B	0.23852	0.049;0.006;0.007;0.029;0.049	T	0.53107	-0.8485	10	0.87932	D	0	-19.8055	8.0116	0.30357	0.1365:0.1364:0.7272:0.0	.	45;45;45;45;45	E9PCA7;Q9UJT1-3;E9PCQ8;Q9UJT1-2;Q9UJT1	.;.;.;.;TBD_HUMAN	C	45	ENSP00000320797:S45C;ENSP00000342399:S45C;ENSP00000342561:S45C;ENSP00000377785:S45C;ENSP00000365262:S45C	ENSP00000320797:S45C	S	-	2	0	TUBD1	55323012	0.977000	0.34250	1.000000	0.80357	0.990000	0.78478	3.020000	0.49643	2.890000	0.99128	0.650000	0.86243	TCT		0.468	TUBD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448815.1	NM_016261		36	76	0	0	0	0	36	76				
ACE	1636	broad.mit.edu	37	17	61570945	61570945	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr17:61570945G>A	ENST00000290866.4	+	20	3085	c.3061G>A	c.(3061-3063)Gtg>Atg	p.V1021M	ACE_ENST00000577647.1_Missense_Mutation_p.V447M|ACE_ENST00000490216.2_Missense_Mutation_p.V447M|ACE_ENST00000428043.1_Missense_Mutation_p.V1021M|ACE_ENST00000290863.6_Missense_Mutation_p.V447M|ACE_ENST00000413513.3_Missense_Mutation_p.V447M|ACE_ENST00000421982.2_Missense_Mutation_p.V267M	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	1021	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CATTGGGGACGTGCTAGCCCT	0.597																																						uc002jau.1		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(3061-3063)GTG>ATG		angiotensin I converting enzyme 1 isoform 1	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						71.0	63.0	66.0					17																	61570945		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61570945G>A	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.3061G>A	17.37:g.61570945G>A	ENSP00000290866:p.Val1021Met					ACE_uc002jav.1_Missense_Mutation_p.V447M|ACE_uc010ddv.1_Missense_Mutation_p.V248M|ACE_uc010wpj.1_Missense_Mutation_p.V447M|ACE_uc002jaw.1_RNA|ACE_uc010wpk.1_Missense_Mutation_p.V267M	p.V1021M	NM_000789	NP_000780	P12821	ACE_HUMAN			20	3083	+			1021			Extracellular (Potential).|Peptidase M2 2.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.3061G>A	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174462	0.38413	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863;ENST00000413513;ENST00000421982	T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95	4.91	3.91	0.45181	.	0.066072	0.64402	D	0.000014	T	0.64821	0.2633	M	0.81239	2.535	0.58432	D	0.999997	D;P;P;D	0.71674	0.989;0.794;0.891;0.998	P;P;B;D	0.72338	0.476;0.523;0.225;0.977	T	0.70263	-0.4920	10	0.87932	D	0	-31.1598	13.5974	0.61998	0.0767:0.0:0.9233:0.0	.	267;447;447;1021	F6X3S4;B4DXI3;P12821-3;P12821	.;.;.;ACE_HUMAN	M	1021;1021;447;447;267	ENSP00000290866:V1021M;ENSP00000397593:V1021M;ENSP00000290863:V447M;ENSP00000392247:V447M;ENSP00000387760:V267M	ENSP00000290863:V447M	V	+	1	0	ACE	58924677	1.000000	0.71417	0.647000	0.29507	0.723000	0.41478	7.967000	0.87967	1.023000	0.39654	0.561000	0.74099	GTG		0.597	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			6	40	0	0	0	0	6	40				
CABLES1	91768	broad.mit.edu	37	18	20833870	20833870	+	Silent	SNP	C	C	G			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr18:20833870C>G	ENST00000256925.7	+	9	1731	c.1731C>G	c.(1729-1731)ctC>ctG	p.L577L	CABLES1_ENST00000400473.2_Silent_p.L250L|CABLES1_ENST00000585061.1_Intron|CABLES1_ENST00000420687.2_Silent_p.L312L|TMEM241_ENST00000450466.2_Intron	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	577					blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GAAGTGACCTCAAAAAACACG	0.493																																						uc002kuc.2		NA																	0				breast(1)	1						c.(1729-1731)CTC>CTG		Cdk5 and Abl enzyme substrate 1 isoform 2							82.0	83.0	83.0					18																	20833870		2024	4193	6217	SO:0001819	synonymous_variant	91768				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding	g.chr18:20833870C>G	BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.1731C>G	18.37:g.20833870C>G						C18orf45_uc010xaq.1_Intron|CABLES1_uc002kub.2_Silent_p.L80L|CABLES1_uc002kud.2_Silent_p.L312L	p.L577L	NM_001100619	NP_001094089	Q8TDN4	CABL1_HUMAN			9	1731	+	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)		577					B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	Silent	SNP	ENST00000256925.7	37	c.1731C>G	CCDS42417.1																																																																																				0.493	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2	NM_138375		5	37	0	0	0	0	5	37				
LONP1	9361	broad.mit.edu	37	19	5705940	5705940	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr19:5705940T>C	ENST00000360614.3	-	8	1367	c.1210A>G	c.(1210-1212)Aag>Gag	p.K404E	LONP1_ENST00000593119.1_Missense_Mutation_p.K340E|LONP1_ENST00000540670.2_Missense_Mutation_p.K208E|LONP1_ENST00000590729.1_Missense_Mutation_p.K274E|LONP1_ENST00000585374.1_Missense_Mutation_p.K290E	NM_004793.2	NP_004784.2			lon peptidase 1, mitochondrial											breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGCTCCTTCTTGATGATCTTT	0.592																																						uc002mcx.2		NA																	0					0						c.(1210-1212)AAG>GAG		mitochondrial lon peptidase 1 precursor							147.0	128.0	134.0					19																	5705940		2203	4300	6503	SO:0001583	missense	9361				cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding	g.chr19:5705940T>C	U02389	CCDS12148.1, CCDS62507.1, CCDS62508.1	19p13.2	2014-01-28	2006-10-20	2006-10-20	ENSG00000196365	ENSG00000196365		"""ATPases / AAA-type"", ""Serine peptidases / Serine peptidases"""	9479	protein-coding gene	gene with protein product		605490	"""protease, serine, 15"""	PRSS15		8248235, 8119403	Standard	NM_004793		Approved	LonHS, hLON, PIM1	uc002mcx.4	P36776		ENST00000360614.3:c.1210A>G	19.37:g.5705940T>C	ENSP00000353826:p.Lys404Glu					LONP1_uc002mcy.2_Missense_Mutation_p.K340E|LONP1_uc010duh.2_Missense_Mutation_p.K145E|LONP1_uc010dui.2_Missense_Mutation_p.K388E|LONP1_uc002mcz.2_Missense_Mutation_p.K208E	p.K404E	NM_004793	NP_004784	P36776	LONM_HUMAN			8	1243	-			404						Missense_Mutation	SNP	ENST00000360614.3	37	c.1210A>G	CCDS12148.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.604269	0.87157	.	.	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	T;T	0.26660	2.02;1.72	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.60222	0.2252	H	0.94658	3.565	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.70227	0.968;0.968;0.968	T	0.71932	-0.4443	10	0.87932	D	0	-47.7819	12.5187	0.56046	0.0:0.0:0.0:1.0	.	404;340;404	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	E	404;368;208	ENSP00000353826:K404E;ENSP00000441523:K208E	ENSP00000351177:K368E	K	-	1	0	LONP1	5656940	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.533000	0.81994	1.847000	0.53656	0.260000	0.18958	AAG		0.592	LONP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451662.1	NM_004793		3	103	0	0	0	0	3	103				
TYK2	7297	broad.mit.edu	37	19	10476499	10476499	+	Silent	SNP	C	C	G			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr19:10476499C>G	ENST00000525621.1	-	7	1186	c.705G>C	c.(703-705)cgG>cgC	p.R235R	TYK2_ENST00000264818.6_Silent_p.R235R|TYK2_ENST00000529370.1_Silent_p.R235R|TYK2_ENST00000524462.1_Silent_p.R50R	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	235	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GGAAGACGTTCCGAAGGCGCA	0.657																																						uc002moc.3		NA																	0				lung(5)|large_intestine(2)|ovary(1)|breast(1)	9						c.(703-705)CGG>CGC		tyrosine kinase 2							13.0	14.0	14.0					19																	10476499		2187	4269	6456	SO:0001819	synonymous_variant	7297				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	g.chr19:10476499C>G		CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.705G>C	19.37:g.10476499C>G						TYK2_uc010dxe.2_Silent_p.R50R|TYK2_uc002mod.2_Silent_p.R235R	p.R235R	NM_003331	NP_003322	P29597	TYK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)		7	1083	-			235			FERM.		Q6QB10|Q96CH0	Silent	SNP	ENST00000525621.1	37	c.705G>C	CCDS12236.1	.	.	.	.	.	.	.	.	.	.	C	1.011	-0.687923	0.03328	.	.	ENSG00000105397	ENST00000525220	.	.	.	4.66	-2.05	0.07321	.	.	.	.	.	T	0.36166	0.0957	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.41070	-0.9529	4	.	.	.	-24.255	12.454	0.55693	0.0923:0.7022:0.2056:0.0	.	.	.	.	A	14	.	.	G	-	2	0	TYK2	10337499	0.000000	0.05858	0.051000	0.19133	0.113000	0.19764	-0.677000	0.05215	-0.030000	0.13804	-0.304000	0.09214	GGA		0.657	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389443.1			4	22	0	0	0	0	4	22				
ZNF676	163223	broad.mit.edu	37	19	22364284	22364284	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr19:22364284A>T	ENST00000397121.2	-	3	552	c.235T>A	c.(235-237)Tta>Ata	p.L79I		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	79					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTTAAGTGTAAATTCTCATGT	0.338																																						uc002nqs.1		NA																	0					0						c.(235-237)TTA>ATA		zinc finger protein 676							97.0	88.0	91.0					19																	22364284		1939	4171	6110	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22364284A>T	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.235T>A	19.37:g.22364284A>T	ENSP00000380310:p.Leu79Ile						p.L79I	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			3	553	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	79					A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.235T>A	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	8.718	0.913553	0.17907	.	.	ENSG00000196109	ENST00000397121	T	0.08282	3.11	0.814	-1.63	0.08345	.	.	.	.	.	T	0.13457	0.0326	M	0.79693	2.465	0.09310	N	1	P	0.46578	0.88	P	0.50270	0.636	T	0.23655	-1.0182	9	0.20046	T	0.44	.	2.2115	0.03949	0.5112:0.0:0.0:0.4888	.	79	Q8N7Q3	ZN676_HUMAN	I	79	ENSP00000380310:L79I	ENSP00000380310:L79I	L	-	1	2	ZNF676	22156124	0.000000	0.05858	0.095000	0.20976	0.132000	0.20833	-0.331000	0.07914	0.158000	0.19367	0.156000	0.16432	TTA		0.338	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		5	54	0	0	0	0	5	54				
CHST8	64377	broad.mit.edu	37	19	34263279	34263279	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr19:34263279G>A	ENST00000262622.4	+	4	1344	c.586G>A	c.(586-588)Gag>Aag	p.E196K	CHST8_ENST00000434302.1_Missense_Mutation_p.E196K|CHST8_ENST00000438847.3_Missense_Mutation_p.E196K	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8	196					carbohydrate biosynthetic process (GO:0016051)|central nervous system development (GO:0007417)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					GCTCTACTGCGAGGTGCCCAA	0.692																																						uc002nus.3		NA																	0				skin(2)|large_intestine(1)|ovary(1)	4						c.(586-588)GAG>AAG		carbohydrate (N-acetylgalactosamine 4-0)							37.0	39.0	38.0					19																	34263279		2200	4298	6498	SO:0001583	missense	64377				carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity	g.chr19:34263279G>A	AB047801	CCDS12433.1	19q13.1	2008-02-05				ENSG00000124302		"""Sulfotransferases, membrane-bound"""	15993	protein-coding gene	gene with protein product		610190				10988300, 11001942	Standard	NM_001127895		Approved	GALNAC-4-ST1	uc002nut.4	Q9H2A9		ENST00000262622.4:c.586G>A	19.37:g.34263279G>A	ENSP00000262622:p.Glu196Lys					CHST8_uc002nut.3_Missense_Mutation_p.E196K|CHST8_uc002nuu.2_Missense_Mutation_p.E196K	p.E196K	NM_001127895	NP_001121367	Q9H2A9	CHST8_HUMAN			5	1091	+	Esophageal squamous(110;0.162)		196			Lumenal (Potential).		Q9H3N2	Missense_Mutation	SNP	ENST00000262622.4	37	c.586G>A	CCDS12433.1	.	.	.	.	.	.	.	.	.	.	G	18.86	3.713275	0.68730	.	.	ENSG00000124302	ENST00000434302;ENST00000438847;ENST00000262622	T;T;T	0.73575	-0.76;-0.76;-0.76	5.08	4.03	0.46877	.	0.064421	0.64402	D	0.000016	D	0.84238	0.5428	M	0.77103	2.36	0.40691	D	0.982397	D	0.71674	0.998	D	0.67548	0.952	D	0.84089	0.0389	10	0.32370	T	0.25	-17.2827	14.5295	0.67915	0.0:0.1477:0.8523:0.0	.	196	Q9H2A9	CHST8_HUMAN	K	196	ENSP00000392604:E196K;ENSP00000393879:E196K;ENSP00000262622:E196K	ENSP00000262622:E196K	E	+	1	0	CHST8	38955119	1.000000	0.71417	1.000000	0.80357	0.596000	0.36781	4.345000	0.59360	1.097000	0.41459	0.478000	0.44815	GAG		0.692	CHST8-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451453.1	NM_022467		18	46	0	0	0	0	18	46				
ZNF146	7705	broad.mit.edu	37	19	36727775	36727775	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr19:36727775G>A	ENST00000443387.2	+	4	1425	c.433G>A	c.(433-435)Gag>Aag	p.E145K	ZNF565_ENST00000355114.5_Intron|ZNF146_ENST00000456324.1_Missense_Mutation_p.E145K	NM_007145.2	NP_009076.2	Q15072	OZF_HUMAN	zinc finger protein 146	145					regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					CAACCTTACTGAGCATGAGAA	0.418																																						uc002odq.3		NA																	0					0						c.(433-435)GAG>AAG		zinc finger protein 146							73.0	77.0	76.0					19																	36727775		2203	4300	6503	SO:0001583	missense	7705				regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding	g.chr19:36727775G>A	X70394	CCDS12492.1	19q13.1	2013-01-08				ENSG00000167635		"""Zinc fingers, C2H2-type"""	12931	protein-coding gene	gene with protein product		601505				10449921, 8641144	Standard	NM_001099639		Approved	OZF	uc010eeu.3	Q15072		ENST00000443387.2:c.433G>A	19.37:g.36727775G>A	ENSP00000392095:p.Glu145Lys					ZNF146_uc010eet.2_Missense_Mutation_p.E145K|ZNF146_uc010eeu.2_Missense_Mutation_p.E145K	p.E145K	NM_007145	NP_009076	Q15072	OZF_HUMAN			4	1956	+	Esophageal squamous(110;0.162)		145			C2H2-type 5.		Q2TB94	Missense_Mutation	SNP	ENST00000443387.2	37	c.433G>A	CCDS12492.1	.	.	.	.	.	.	.	.	.	.	G	11.98	1.800515	0.31869	.	.	ENSG00000167635	ENST00000443387;ENST00000456324	T;T	0.16073	2.37;2.37	4.12	4.12	0.48240	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.40728	N	0.001037	T	0.11324	0.0276	N	0.00996	-1.065	0.27298	N	0.957669	D	0.63880	0.993	D	0.74023	0.982	T	0.28902	-1.0029	10	0.06236	T	0.91	-9.5342	12.216	0.54406	0.0:0.1733:0.8266:0.0	.	145	Q15072	OZF_HUMAN	K	145	ENSP00000392095:E145K;ENSP00000400391:E145K	ENSP00000392095:E145K	E	+	1	0	ZNF146	41419615	0.000000	0.05858	1.000000	0.80357	0.998000	0.95712	0.076000	0.14712	2.594000	0.87642	0.556000	0.70494	GAG		0.418	ZNF146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451706.1	NM_007145		8	84	0	0	0	0	8	84				
ZNF112	7771	broad.mit.edu	37	19	44833908	44833908	+	Silent	SNP	G	G	A	rs147887844		TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr19:44833908G>A	ENST00000337401.4	-	5	508	c.420C>T	c.(418-420)ctC>ctT	p.L140L	CTC-512J12.6_ENST00000588212.1_Silent_p.L139L|ZNF112_ENST00000354340.4_Silent_p.L134L|ZNF112_ENST00000536500.1_Silent_p.L157L	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	140					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										AAACCTGGCCGAGGGAATTAC	0.403													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18522	0.0		0.0	False		,,,				2504	0.0					uc010ejj.2		NA																	0				ovary(3)|skin(2)	5						c.(418-420)CTC>CTT		zinc finger protein 228 isoform 1		G	,	2,4404	4.2+/-10.8	0,2,2201	48.0	50.0	49.0		420,402	1.2	0.0	19	dbSNP_134	49	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ZFP112	NM_001083335.1,NM_013380.3	,	0,2,6501	AA,AG,GG		0.0,0.0454,0.0154	,	140/914,134/908	44833908	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	7771				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:44833908G>A	AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.420C>T	19.37:g.44833908G>A						ZFP112_uc002ozc.3_Silent_p.L134L|ZFP112_uc010xwy.1_Silent_p.L157L|ZFP112_uc010xwz.1_Silent_p.L139L	p.L140L	NM_001083335	NP_001076804	Q9UJU3	ZF112_HUMAN			5	533	-			140					A4FU53|Q9HCA7	Silent	SNP	ENST00000337401.4	37	c.420C>T	CCDS54276.1																																																																																				0.403	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1	NM_013380		9	46	0	0	0	0	9	46				
BCAM	4059	broad.mit.edu	37	19	45317520	45317520	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr19:45317520C>T	ENST00000270233.6	+	7	918	c.896C>T	c.(895-897)cCg>cTg	p.P299L	BCAM_ENST00000589651.1_Missense_Mutation_p.P299L	NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	299	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	laminin binding (GO:0043236)|laminin receptor activity (GO:0005055)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				AGCCCCAGCCCGGAGTATACG	0.657																																						uc002ozu.2		NA																	0				skin(1)	1						c.(895-897)CCG>CTG		basal cell adhesion molecule isoform 1							40.0	41.0	41.0					19																	45317520		2203	4299	6502	SO:0001583	missense	4059				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	g.chr19:45317520C>T	X83425	CCDS12644.1, CCDS42575.1	19q12-q13	2014-07-18	2006-02-23	2006-01-12		ENSG00000187244		"""CD molecules"", ""Blood group antigens"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6722	protein-coding gene	gene with protein product		612773	"""Lutheran blood group (Auberger b antigen included)"", ""basal cell adhesion molecule (Lu and Au blood groups)"""	LU			Standard	NM_005581		Approved	CD239	uc002ozu.4	P50895		ENST00000270233.6:c.896C>T	19.37:g.45317520C>T	ENSP00000270233:p.Pro299Leu					BCAM_uc002ozt.1_Missense_Mutation_p.P299L	p.P299L	NM_005581	NP_005572	P50895	BCAM_HUMAN			7	940	+	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)	299			Extracellular (Potential).|Ig-like C2-type 1.		A8MYF9|A9YWT5|A9YWT6|Q86VC7	Missense_Mutation	SNP	ENST00000270233.6	37	c.896C>T	CCDS12644.1	.	.	.	.	.	.	.	.	.	.	.	18.76	3.693013	0.68271	.	.	ENSG00000187244	ENST00000270233;ENST00000391955	T;T	0.14391	2.51;2.51	3.98	3.98	0.46160	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.32645	0.0836	M	0.92691	3.335	0.58432	D	0.999997	P	0.51057	0.941	P	0.48454	0.578	T	0.46484	-0.9188	9	0.66056	D	0.02	-18.8938	12.286	0.54793	0.0:1.0:0.0:0.0	.	299	P50895	BCAM_HUMAN	L	299	ENSP00000270233:P299L;ENSP00000375817:P299L	ENSP00000270233:P299L	P	+	2	0	BCAM	50009360	0.001000	0.12720	0.786000	0.31890	0.831000	0.47069	0.243000	0.18106	2.159000	0.67721	0.462000	0.41574	CCG		0.657	BCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453220.1	NM_005581		20	72	0	0	0	0	20	72				
ZNF480	147657	broad.mit.edu	37	19	52825750	52825750	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr19:52825750G>A	ENST00000595962.1	+	5	1313	c.1247G>A	c.(1246-1248)cGa>cAa	p.R416Q	ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000335090.6_Missense_Mutation_p.R339Q|ZNF480_ENST00000334564.7_Missense_Mutation_p.R373Q|CTD-2525I3.6_ENST00000594379.1_RNA	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	416					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.R397Q(1)|p.R416Q(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		AATCTTGCACGACATCGAAGA	0.368																																						uc010ydl.1		NA																	2	Substitution - Missense(2)		endometrium(2)	large_intestine(1)	1						c.(1246-1248)CGA>CAA		zinc finger protein 480							86.0	90.0	89.0					19																	52825750		2203	4300	6503	SO:0001583	missense	147657				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chr19:52825750G>A	AY512662	CCDS12850.2, CCDS74437.1	19q13.41	2013-01-08			ENSG00000198464	ENSG00000198464		"""Zinc fingers, C2H2-type"", ""-"""	23305	protein-coding gene	gene with protein product		613910				15219843	Standard	XM_005258525		Approved	MGC32104	uc010ydl.2	Q8WV37	OTTHUMG00000157507	ENST00000595962.1:c.1247G>A	19.37:g.52825750G>A	ENSP00000471754:p.Arg416Gln					ZNF480_uc002pyv.2_Missense_Mutation_p.R339Q|ZNF480_uc010ydm.1_Missense_Mutation_p.R373Q|ZNF480_uc010epn.2_Missense_Mutation_p.R247Q|uc002pyw.1_Intron	p.R416Q	NM_144684	NP_653285	Q8WV37	ZN480_HUMAN		GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)	5	1317	+			416			C2H2-type 8.		Q5JPG9|Q6P0Q4|Q8N1M5	Missense_Mutation	SNP	ENST00000595962.1	37	c.1247G>A	CCDS12850.2	.	.	.	.	.	.	.	.	.	.	G	0.424	-0.906723	0.02434	.	.	ENSG00000198464	ENST00000468240;ENST00000334564;ENST00000335090	T;T;T	0.26223	1.75;1.75;1.75	2.21	-4.43	0.03568	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.16557	0.0398	L	0.33339	1.005	0.09310	N	1	B;D	0.57899	0.204;0.981	B;P	0.47573	0.019;0.55	T	0.08806	-1.0704	9	0.09843	T	0.71	.	5.8592	0.18736	0.4064:0.0:0.4662:0.1274	.	373;416	F8WEZ9;Q8WV37	.;ZN480_HUMAN	Q	416;373;339	ENSP00000417424:R416Q;ENSP00000334164:R373Q;ENSP00000335670:R339Q	ENSP00000334164:R373Q	R	+	2	0	ZNF480	57517562	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-7.986000	0.00026	-1.778000	0.01282	-0.384000	0.06662	CGA		0.368	ZNF480-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349001.3	NM_144684		12	87	0	0	0	0	12	87				
PAK7	57144	broad.mit.edu	37	20	9546621	9546621	+	Silent	SNP	G	G	A	rs368434501		TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr20:9546621G>A	ENST00000378429.3	-	6	1947	c.1401C>T	c.(1399-1401)acC>acT	p.T467T	PAK7_ENST00000378423.1_Silent_p.T467T|PAK7_ENST00000353224.5_Silent_p.T467T	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	467	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell growth (GO:0016049)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|learning (GO:0007612)|locomotory behavior (GO:0007626)|memory (GO:0007613)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.T467T(1)		NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TGTGTTTCTCGGTGGCGATGC	0.522																																						uc002wnl.2		NA																	1	Substitution - coding silent(1)		lung(1)	lung(11)|skin(5)|central_nervous_system(3)|ovary(2)|large_intestine(1)|stomach(1)	23						c.(1399-1401)ACC>ACT		p21-activated kinase 7		G	,	1,4405	2.1+/-5.4	0,1,2202	276.0	252.0	260.0		1401,1401	-11.0	0.0	20		260	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	PAK7	NM_020341.3,NM_177990.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	467/720,467/720	9546621	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57144						ATP binding|protein binding|protein serine/threonine kinase activity	g.chr20:9546621G>A	AB033090	CCDS13107.1	20p12	2008-06-17	2008-06-17		ENSG00000101349	ENSG00000101349			15916	protein-coding gene	gene with protein product		608038	"""p21(CDKN1A)-activated kinase 7"""			11756552, 10574462	Standard	NM_020341		Approved	KIAA1264, PAK5	uc002wnk.2	Q9P286	OTTHUMG00000031857	ENST00000378429.3:c.1401C>T	20.37:g.9546621G>A						PAK7_uc002wnk.2_Silent_p.T467T|PAK7_uc002wnj.2_Silent_p.T467T|PAK7_uc010gby.1_Silent_p.T467T	p.T467T	NM_020341	NP_065074	Q9P286	PAK7_HUMAN	COAD - Colon adenocarcinoma(9;0.194)		6	1946	-			467			Protein kinase.		A8K5T6|D3DW14|Q5W115|Q9BX09|Q9ULF6	Silent	SNP	ENST00000378429.3	37	c.1401C>T	CCDS13107.1																																																																																				0.522	PAK7-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077962.1			22	144	0	0	0	0	22	144				
ADRBK2	157	broad.mit.edu	37	22	26083560	26083560	+	Missense_Mutation	SNP	C	C	T	rs200558027		TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr22:26083560C>T	ENST00000324198.6	+	11	1075	c.883C>T	c.(883-885)Cgg>Tgg	p.R295W		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	295	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	GAAGGAGATGCGGTTTTATGC	0.418													C|||	1	0.000199681	0.0	0.0	5008	,	,		22176	0.001		0.0	False		,,,				2504	0.0					uc003abx.3		NA																	0				lung(3)|ovary(2)|stomach(1)|central_nervous_system(1)	7						c.(883-885)CGG>TGG		beta-adrenergic receptor kinase 2	Adenosine triphosphate(DB00171)	C	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	184.0	145.0	158.0		883	2.4	1.0	22		158	0,8600		0,0,4300	no	missense	ADRBK2	NM_005160.3	101	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	295/689	26083560	1,13005	2203	4300	6503	SO:0001583	missense	157						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity	g.chr22:26083560C>T	X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"""Pleckstrin homology (PH) domain containing"""	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.883C>T	22.37:g.26083560C>T	ENSP00000317578:p.Arg295Trp					ADRBK2_uc010gux.2_Missense_Mutation_p.R295W|ADRBK2_uc003abw.2_Missense_Mutation_p.R182W|ADRBK2_uc003aby.3_RNA	p.R295W	NM_005160	NP_005151	P35626	ARBK2_HUMAN			11	1030	+			295			Protein kinase.		Q9UGW9	Missense_Mutation	SNP	ENST00000324198.6	37	c.883C>T	CCDS13832.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.703116	0.68501	2.27E-4	0.0	ENSG00000100077	ENST00000324198;ENST00000545323	T	0.27104	1.69	4.71	2.36	0.29203	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.144833	0.43919	D	0.000514	T	0.43277	0.1240	L	0.59912	1.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.981	T	0.40098	-0.9581	10	0.72032	D	0.01	-17.4793	10.6595	0.45694	0.5398:0.4602:0.0:0.0	.	295;295	A8K869;P35626	.;ARBK2_HUMAN	W	295	ENSP00000317578:R295W	ENSP00000317578:R295W	R	+	1	2	ADRBK2	24413560	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	1.942000	0.40243	1.267000	0.44247	0.650000	0.86243	CGG		0.418	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317296.4	NM_005160		8	52	0	0	0	0	8	52				
PLCD1	5333	broad.mit.edu	37	3	38058058	38058058	+	Missense_Mutation	SNP	C	C	T	rs576674144		TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr3:38058058C>T	ENST00000334661.4	-	3	574	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	PLCD1_ENST00000479619.1_5'UTR|Y_RNA_ENST00000363709.1_RNA|PLCD1_ENST00000463876.1_Missense_Mutation_p.A139T	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	118	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CAGTGCTGGGCATCAGCTGGC	0.587													C|||	1	0.000199681	0.0	0.0	5008	,	,		20460	0.0		0.001	False		,,,				2504	0.0					uc003chn.2		NA																	0				skin(1)	1						c.(352-354)GCC>ACC		phospholipase C, delta 1 isoform 2							87.0	86.0	87.0					3																	38058058		2203	4300	6503	SO:0001583	missense	5333				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr3:38058058C>T		CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"""EF-hand domain containing"""	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.352G>A	3.37:g.38058058C>T	ENSP00000335600:p.Ala118Thr					PLCD1_uc003chm.2_Missense_Mutation_p.A139T	p.A118T	NM_006225	NP_006216	P51178	PLCD1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)	3	476	-			118			PH.		B3KR14|Q86VN8	Missense_Mutation	SNP	ENST00000334661.4	37	c.352G>A	CCDS2671.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.894920	0.91962	.	.	ENSG00000187091	ENST00000463876;ENST00000334661	T;T	0.68624	-0.34;-0.34	4.19	3.3	0.37823	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.112694	0.64402	D	0.000013	T	0.77471	0.4135	M	0.82517	2.595	0.51233	D	0.999917	P;P	0.45594	0.565;0.862	B;P	0.54924	0.33;0.764	T	0.80699	-0.1266	10	0.59425	D	0.04	.	12.0758	0.53643	0.0:0.9125:0.0:0.0875	.	118;139	P51178;B3KR14	PLCD1_HUMAN;.	T	139;118	ENSP00000430344:A139T;ENSP00000335600:A118T	ENSP00000335600:A118T	A	-	1	0	PLCD1	38033062	0.999000	0.42202	0.919000	0.36401	0.861000	0.49209	4.032000	0.57274	2.281000	0.76405	0.557000	0.71058	GCC		0.587	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253359.2			6	22	0	0	0	0	6	22				
CADM2	253559	broad.mit.edu	37	3	86028420	86028420	+	Silent	SNP	C	C	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr3:86028420C>A	ENST00000407528.2	+	8	1112	c.1050C>A	c.(1048-1050)acC>acA	p.T350T	CADM2_ENST00000383699.3_Intron|CADM2_ENST00000405615.2_Silent_p.T352T	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	350	Thr-rich.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		CTGCAACAACCAGCAGCATCA	0.433																																						uc003dqj.2		NA																	0				ovary(1)|lung(1)|kidney(1)|skin(1)	4						c.(1048-1050)ACC>ACA		immunoglobulin superfamily, member 4D							273.0	248.0	256.0					3																	86028420		2203	4300	6503	SO:0001819	synonymous_variant	253559				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane		g.chr3:86028420C>A	AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.1050C>A	3.37:g.86028420C>A						CADM2_uc003dqk.2_Intron|CADM2_uc003dql.2_Silent_p.T352T	p.T350T	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)	8	1676	+		Lung NSC(201;0.0148)	350			Thr-rich.|Extracellular (Potential).		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Silent	SNP	ENST00000407528.2	37	c.1050C>A	CCDS54614.1																																																																																				0.433	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352822.1	NM_153184		24	163	1	0	2.42e-17	1.2e-16	24	163				
NR1I2	8856	broad.mit.edu	37	3	119531666	119531666	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr3:119531666A>G	ENST00000337940.4	+	5	818	c.770A>G	c.(769-771)gAg>gGg	p.E257G	NR1I2_ENST00000393716.2_Missense_Mutation_p.E218G|NR1I2_ENST00000466380.1_Missense_Mutation_p.E181G	NM_022002.2	NP_071285.1	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	218	Ligand-binding.				drug export (GO:0046618)|exogenous drug catabolic process (GO:0042738)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|steroid metabolic process (GO:0008202)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)|xenobiotic transport (GO:0042908)	nucleoplasm (GO:0005654)	drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)	p.E257G(2)		breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Docetaxel(DB01248)|Erlotinib(DB00530)|Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Paclitaxel(DB01229)|Rifampicin(DB01045)|Rifaximin(DB01220)|Rilpivirine(DB08864)|Vitamin E(DB00163)	CTGCGGGGGGAGGATGGCAGT	0.582																																						uc003edj.2		NA																	2	Substitution - Missense(2)		prostate(2)	ovary(2)	2						c.(652-654)GAG>GGG		nuclear receptor subfamily 1, group I, member 2	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)						77.0	76.0	77.0					3																	119531666		2203	4300	6503	SO:0001583	missense	8856				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	g.chr3:119531666A>G	AF061056	CCDS2995.1, CCDS43136.1, CCDS54627.1	3q12-q13.3	2013-03-25			ENSG00000144852	ENSG00000144852		"""Nuclear hormone receptors"""	7968	protein-coding gene	gene with protein product	"""pregnane X receptor"", ""orphan nuclear receptor PXR"""	603065				9727070, 9770465	Standard	NM_003889		Approved	ONR1, PXR, BXR, SXR, PAR2	uc003edk.3	O75469	OTTHUMG00000159400	ENST00000337940.4:c.770A>G	3.37:g.119531666A>G	ENSP00000336528:p.Glu257Gly					NR1I2_uc003edi.2_Missense_Mutation_p.E181G|NR1I2_uc003edk.2_Missense_Mutation_p.E257G|NR1I2_uc003edl.2_Missense_Mutation_p.E106G	p.E218G	NM_003889	NP_003880	O75469	NR1I2_HUMAN		GBM - Glioblastoma multiforme(114;0.175)	5	2492	+			218			Ligand-binding.		Q006P5|Q008C8|Q96AC7|Q9UJ22|Q9UJ23|Q9UJ24|Q9UJ25|Q9UJ26|Q9UJ27|Q9UNW4	Missense_Mutation	SNP	ENST00000337940.4	37	c.653A>G	CCDS2995.1	.	.	.	.	.	.	.	.	.	.	A	16.17	3.047255	0.55110	.	.	ENSG00000144852	ENST00000393716;ENST00000466380;ENST00000337940	D;D;D	0.96011	-3.88;-3.88;-3.88	4.27	4.27	0.50696	Nuclear hormone receptor, ligand-binding (1);	0.505078	0.16746	N	0.201231	D	0.96513	0.8862	M	0.61703	1.905	0.29368	N	0.864216	P;D;B	0.71674	0.871;0.998;0.077	B;D;B	0.77004	0.318;0.989;0.128	D	0.92340	0.5881	10	0.42905	T	0.14	.	9.7268	0.40337	1.0:0.0:0.0:0.0	.	218;257;204	O75469;F1D8P9;O75469-6	NR1I2_HUMAN;.;.	G	218;181;257	ENSP00000377319:E218G;ENSP00000420297:E181G;ENSP00000336528:E257G	ENSP00000336528:E257G	E	+	2	0	NR1I2	121014356	0.486000	0.25980	0.788000	0.31933	0.979000	0.70002	2.126000	0.42026	1.801000	0.52704	0.459000	0.35465	GAG		0.582	NR1I2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355126.1			5	69	0	0	0	0	5	69				
IFT80	57560	broad.mit.edu	37	3	160025459	160025459	+	Silent	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr3:160025459G>A	ENST00000326448.7	-	10	1500	c.1068C>T	c.(1066-1068)taC>taT	p.Y356Y	RP11-432B6.3_ENST00000483754.1_Silent_p.Y527Y|IFT80_ENST00000496589.1_Silent_p.Y219Y|IFT80_ENST00000483465.1_Silent_p.Y219Y	NM_020800.2	NP_065851.1	Q9P2H3	IFT80_HUMAN	intraflagellar transport 80	356					bone morphogenesis (GO:0060349)|chondrocyte differentiation (GO:0002062)|cilium assembly (GO:0042384)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|osteoblast differentiation (GO:0001649)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)		p.Y356*(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ACGAGAACACGTAACATTGAA	0.368																																						uc011boy.1		NA																	1	Substitution - Nonsense(1)		breast(1)	ovary(1)	1						c.(1066-1068)TAC>TAT		WD repeat domain 56							118.0	110.0	113.0					3																	160025459		2203	4300	6503	SO:0001819	synonymous_variant	57560					cilium axoneme|microtubule basal body		g.chr3:160025459G>A	AB037795	CCDS3188.1, CCDS54668.1	3q25.33	2014-07-03	2014-07-03	2005-11-02	ENSG00000068885	ENSG00000068885		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	29262	protein-coding gene	gene with protein product		611177	"""WD repeat domain 56"", ""intraflagellar transport 80 homolog (Chlamydomonas)"""	WDR56		10718198	Standard	NM_020800		Approved	KIAA1374	uc021xgq.1	Q9P2H3	OTTHUMG00000158953	ENST00000326448.7:c.1068C>T	3.37:g.160025459G>A						IFT80_uc003fda.2_RNA|IFT80_uc003fdb.1_Silent_p.Y219Y|IFT80_uc003fdd.1_Silent_p.Y39Y|IFT80_uc003fde.1_Silent_p.Y219Y	p.Y356Y	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)		10	1501	-			356					B4E0K1|C9J8I0|Q3MJC4|Q86YF4|Q9UIX1	Silent	SNP	ENST00000326448.7	37	c.1068C>T	CCDS3188.1																																																																																				0.368	IFT80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352651.2	NM_020800		8	34	0	0	0	0	8	34				
ZNF141	7700	broad.mit.edu	37	4	367159	367159	+	Silent	SNP	C	C	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr4:367159C>T	ENST00000240499.7	+	4	1082	c.933C>T	c.(931-933)taC>taT	p.Y311Y	ZNF141_ENST00000505939.1_Intron|ZNF141_ENST00000512994.1_Intron	NM_003441.2	NP_003432.1	Q15928	ZN141_HUMAN	zinc finger protein 141	311					anatomical structure morphogenesis (GO:0009653)|limb morphogenesis (GO:0035108)|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)			breast(1)|kidney(3)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	18						AGAAACCCTACAAATGTGAAG	0.393																																						uc003gaa.2		NA																	0					0						c.(931-933)TAC>TAT		zinc finger protein 141							66.0	74.0	71.0					4																	367159		2197	4297	6494	SO:0001819	synonymous_variant	7700				anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr4:367159C>T	L15309	CCDS33931.1	4p16.3	2013-01-08	2006-06-13			ENSG00000131127		"""Zinc fingers, C2H2-type"", ""-"""	12926	protein-coding gene	gene with protein product		194648	"""zinc finger protein 141 (clone pHZ-44)"""	D4S90		8268908	Standard	NM_003441		Approved	pHZ-44	uc003gaa.2	Q15928		ENST00000240499.7:c.933C>T	4.37:g.367159C>T						ZNF141_uc003gab.2_Intron	p.Y311Y	NM_003441	NP_003432	Q15928	ZN141_HUMAN			5	1111	+			311			C2H2-type 6.		Q6DK07	Silent	SNP	ENST00000240499.7	37	c.933C>T	CCDS33931.1																																																																																				0.393	ZNF141-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357710.1	NM_003441		35	62	0	0	0	0	35	62				
AFAP1	60312	broad.mit.edu	37	4	7857195	7857195	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr4:7857195G>A	ENST00000360265.4	-	3	566	c.332C>T	c.(331-333)tCa>tTa	p.S111L	AFAP1_ENST00000382543.3_Missense_Mutation_p.S111L|AFAP1_ENST00000358461.2_Missense_Mutation_p.S111L|AFAP1_ENST00000420658.1_Missense_Mutation_p.S111L			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	111						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						CCACTCACTTGATGTGATGTA	0.562																																						uc003gkg.1		NA																	0					0						c.(331-333)TCA>TTA		actin filament associated protein 1							72.0	59.0	64.0					4																	7857195		2203	4300	6503	SO:0001583	missense	60312					actin cytoskeleton|cytoplasm|focal adhesion	actin binding	g.chr4:7857195G>A	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.332C>T	4.37:g.7857195G>A	ENSP00000353402:p.Ser111Leu					AFAP1_uc011bwk.1_Missense_Mutation_p.S111L	p.S111L	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN			4	605	-			111					A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	ENST00000360265.4	37	c.332C>T	CCDS3397.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.856881	0.71834	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	4.79	4.79	0.61399	.	0.062795	0.64402	D	0.000003	T	0.30978	0.0782	L	0.33753	1.03	0.58432	D	0.999999	P;P	0.41420	0.749;0.578	B;B	0.39771	0.309;0.24	T	0.11131	-1.0600	10	0.05620	T	0.96	-24.7563	16.6191	0.84925	0.0:0.0:1.0:0.0	.	111;111	E9PDT7;Q8N556	.;AFAP1_HUMAN	L	111	ENSP00000353402:S111L;ENSP00000410689:S111L;ENSP00000351245:S111L;ENSP00000371983:S111L	ENSP00000351245:S111L	S	-	2	0	AFAP1	7908095	1.000000	0.71417	0.997000	0.53966	0.711000	0.40976	8.016000	0.88706	2.192000	0.70111	0.561000	0.74099	TCA		0.562	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		13	45	0	0	0	0	13	45				
FGB	2244	broad.mit.edu	37	4	155489613	155489613	+	Nonsense_Mutation	SNP	A	A	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr4:155489613A>T	ENST00000302068.4	+	5	862	c.799A>T	c.(799-801)Aga>Tga	p.R267*	FGB_ENST00000509493.1_Nonsense_Mutation_p.R48*|FGB_ENST00000502545.1_3'UTR	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	267	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|cellular response to interleukin-1 (GO:0071347)|cellular response to leptin stimulus (GO:0044320)|extracellular matrix organization (GO:0030198)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	chaperone binding (GO:0051087)|structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CAAACCGTATAGAGTATACTG	0.373																																					NSCLC(106;1133 1613 21870 46110 52656)	uc003ioa.3		NA																	0				ovary(2)|upper_aerodigestive_tract(1)	3						c.(799-801)AGA>TGA		fibrinogen, beta chain preproprotein	Sucralfate(DB00364)						133.0	130.0	131.0					4																	155489613		2203	4300	6503	SO:0001587	stop_gained	2244				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding	g.chr4:155489613A>T		CCDS3786.1	4q28	2014-09-17			ENSG00000171564	ENSG00000171564		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3662	protein-coding gene	gene with protein product		134830	"""fibrinogen, B beta polypeptide"""				Standard	NM_005141		Approved		uc003ioa.4	P02675	OTTHUMG00000150331	ENST00000302068.4:c.799A>T	4.37:g.155489613A>T	ENSP00000306099:p.Arg267*					FGB_uc003iob.3_Nonsense_Mutation_p.R264*|FGB_uc010ipv.2_Nonsense_Mutation_p.R205*|FGB_uc010ipw.2_Nonsense_Mutation_p.R264*|FGB_uc003ioc.3_Nonsense_Mutation_p.R48*	p.R267*	NM_005141	NP_005132	P02675	FIBB_HUMAN			5	838	+	all_hematologic(180;0.215)	Renal(120;0.0458)	267			Fibrinogen C-terminal.		A0JLR9|B2R7G3|Q32Q65|Q3KPF2	Nonsense_Mutation	SNP	ENST00000302068.4	37	c.799A>T	CCDS3786.1	.	.	.	.	.	.	.	.	.	.	A	31	5.067651	0.93898	.	.	ENSG00000171564	ENST00000302068;ENST00000537843;ENST00000509493	.	.	.	5.8	5.8	0.92144	.	0.131452	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07030	T	0.85	.	16.1485	0.81594	1.0:0.0:0.0:0.0	.	.	.	.	X	267;250;48	.	ENSP00000306099:R267X	R	+	1	2	FGB	155709063	1.000000	0.71417	0.958000	0.39756	0.221000	0.24807	5.173000	0.65010	2.211000	0.71520	0.402000	0.26972	AGA		0.373	FGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317595.1	NM_005141		6	80	0	0	0	0	6	80				
AGXT2	64902	broad.mit.edu	37	5	35014142	35014142	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr5:35014142G>A	ENST00000231420.6	-	10	1246	c.1046C>T	c.(1045-1047)gCt>gTt	p.A349V		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	349					cellular nitrogen compound metabolic process (GO:0034641)|glycine biosynthetic process, by transamination of glyoxylate (GO:0019265)|glyoxylate catabolic process (GO:0009436)|glyoxylate metabolic process (GO:0046487)|L-alanine catabolic process, by transamination (GO:0019481)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity (GO:0047305)|alanine-glyoxylate transaminase activity (GO:0008453)|beta-alanine-pyruvate transaminase activity (GO:0016223)|pyridoxal phosphate binding (GO:0030170)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyruvic acid(DB00119)	AATCCCTTTAGCCATGGTGAC	0.527																																						uc003jjf.2		NA																	0				ovary(3)|skin(1)	4						c.(1045-1047)GCT>GTT		alanine-glyoxylate aminotransferase 2 precursor	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)						181.0	143.0	156.0					5																	35014142		2203	4300	6503	SO:0001583	missense	64902				glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding	g.chr5:35014142G>A	AJ292204	CCDS3908.1	5p13	2010-05-07	2010-05-07		ENSG00000113492	ENSG00000113492	2.6.1.44		14412	protein-coding gene	gene with protein product	"""beta-alanine-pyruvate aminotransferase"", ""beta-ALAAT II"""	612471	"""alanine-glyoxylate aminotransferase 2"""			15240345	Standard	NM_031900		Approved	AGT2	uc003jjf.3	Q9BYV1	OTTHUMG00000090788	ENST00000231420.6:c.1046C>T	5.37:g.35014142G>A	ENSP00000231420:p.Ala349Val					AGXT2_uc003jje.1_Missense_Mutation_p.A2V|AGXT2_uc011com.1_Intron	p.A349V	NM_031900	NP_114106	Q9BYV1	AGT2_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	10	1125	-	all_lung(31;4.52e-05)		349					B7ZM47|E9PDL7|Q53FB4|Q53FY7|Q53G03|Q5W7Q1	Missense_Mutation	SNP	ENST00000231420.6	37	c.1046C>T	CCDS3908.1	.	.	.	.	.	.	.	.	.	.	G	34	5.404971	0.96051	.	.	ENSG00000113492	ENST00000231420	T	0.27720	1.65	5.88	5.88	0.94601	Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	T	0.74779	0.3761	H	0.98818	4.34	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85075	0.0942	10	0.87932	D	0	-0.0405	19.8216	0.96599	0.0:0.0:1.0:0.0	.	349	Q9BYV1	AGT2_HUMAN	V	349	ENSP00000231420:A349V	ENSP00000231420:A349V	A	-	2	0	AGXT2	35049899	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.984000	0.93482	2.769000	0.95229	0.655000	0.94253	GCT		0.527	AGXT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207574.2	NM_031900		48	63	0	0	0	0	48	63				
CATSPER3	347732	broad.mit.edu	37	5	134303694	134303694	+	Missense_Mutation	SNP	C	C	T	rs140980095	byFrequency	TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr5:134303694C>T	ENST00000282611.6	+	1	99	c.13C>T	c.(13-15)Cgt>Tgt	p.R5C	CATSPER3_ENST00000511235.1_3'UTR|PCBD2_ENST00000512783.1_3'UTR	NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	5					calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sodium ion transport (GO:0006814)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)	acrosomal vesicle (GO:0001669)|CatSper complex (GO:0036128)|endoplasmic reticulum (GO:0005783)|motile cilium (GO:0031514)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTCTCAACACCGTCACCAGCG	0.388													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		21517	0.0		0.0	False		,,,				2504	0.0					uc003lag.2		NA																	0				ovary(1)	1						c.(13-15)CGT>TGT		cation channel, sperm associated 3		C	CYS/ARG	6,4400	11.4+/-27.6	0,6,2197	105.0	102.0	103.0		13	-5.4	0.0	5	dbSNP_134	103	0,8600		0,0,4300	yes	missense	CATSPER3	NM_178019.2	180	0,6,6497	TT,TC,CC		0.0,0.1362,0.0461	benign	5/399	134303694	6,13000	2203	4300	6503	SO:0001583	missense	347732				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity	g.chr5:134303694C>T	AF432876	CCDS4181.1	5q31.2	2011-07-05			ENSG00000152705	ENSG00000152705		"""Voltage-gated ion channels / Cation channels, sperm associated"""	20819	protein-coding gene	gene with protein product		609120				12646162, 12932298, 17227845, 16382101	Standard	NM_178019		Approved	CACRC	uc003lag.3	Q86XQ3	OTTHUMG00000129137	ENST00000282611.6:c.13C>T	5.37:g.134303694C>T	ENSP00000282611:p.Arg5Cys					PCBD2_uc011cxw.1_3'UTR	p.R5C	NM_178019	NP_821138	Q86XQ3	CTSR3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)		1	81	+			5			Cytoplasmic (Potential).		Q86XS6	Missense_Mutation	SNP	ENST00000282611.6	37	c.13C>T	CCDS4181.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	10.23	1.291895	0.23564	0.001362	0.0	ENSG00000152705	ENST00000282611	D	0.97161	-4.27	4.52	-5.42	0.02640	.	4.398430	0.00465	N	0.000101	D	0.89996	0.6877	N	0.14661	0.345	0.09310	N	1	P	0.48764	0.915	B	0.35182	0.197	D	0.86884	0.2044	10	0.59425	D	0.04	3.0414	5.0201	0.14356	0.1212:0.0895:0.5639:0.2254	.	5	Q86XQ3	CTSR3_HUMAN	C	5	ENSP00000282611:R5C	ENSP00000282611:R5C	R	+	1	0	CATSPER3	134331593	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.092000	0.03366	-0.900000	0.03896	-0.312000	0.09012	CGT		0.388	CATSPER3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251191.2	NM_178019		3	27	0	0	0	0	3	27				
EYA4	2070	broad.mit.edu	37	6	133783832	133783832	+	Silent	SNP	C	C	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr6:133783832C>A	ENST00000367895.5	+	9	1118	c.654C>A	c.(652-654)ggC>ggA	p.G218G	EYA4_ENST00000355286.6_Silent_p.G195G|EYA4_ENST00000452339.2_Silent_p.G164G|EYA4_ENST00000355167.3_Silent_p.G218G|EYA4_ENST00000525849.1_Silent_p.G195G|EYA4_ENST00000531901.1_Silent_p.G218G|EYA4_ENST00000430974.2_Silent_p.G164G|EYA4_ENST00000431403.2_Silent_p.G218G	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	EYA transcriptional coactivator and phosphatase 4	218					anatomical structure morphogenesis (GO:0009653)|chromatin modification (GO:0016568)|DNA repair (GO:0006281)|inner ear development (GO:0048839)|middle ear morphogenesis (GO:0042474)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TACAGAGTGGCTGCCTCAGTT	0.473																																					Melanoma(57;398 1237 3528 4702 7415)	uc003qec.3		NA																	0				large_intestine(2)	2						c.(652-654)GGC>GGA		eyes absent 4 isoform a							84.0	79.0	81.0					6																	133783832		2203	4300	6503	SO:0001819	synonymous_variant	2070				anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	g.chr6:133783832C>A	Y17114	CCDS5165.1, CCDS5166.1, CCDS43506.1, CCDS75521.1, CCDS75523.1	6q23	2014-09-17	2014-06-19		ENSG00000112319	ENSG00000112319		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3522	protein-coding gene	gene with protein product		603550	"""eyes absent (Drosophila) homolog 4"", ""eyes absent homolog 4 (Drosophila)"""	DFNA10, CMD1J		9887327, 11159937	Standard	NM_004100		Approved		uc003qed.4	O95677	OTTHUMG00000015602	ENST00000367895.5:c.654C>A	6.37:g.133783832C>A						EYA4_uc011ecq.1_Silent_p.G164G|EYA4_uc011ecr.1_Silent_p.G164G|EYA4_uc003qed.3_Silent_p.G218G|EYA4_uc003qee.3_Silent_p.G195G|EYA4_uc011ecs.1_Silent_p.G218G|uc003qef.1_Intron	p.G218G	NM_004100	NP_004091	O95677	EYA4_HUMAN		GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)	9	1112	+	Colorectal(23;0.221)		218					B7Z7F7|O95464|O95679|Q8IW39|Q9NTR7	Silent	SNP	ENST00000367895.5	37	c.654C>A	CCDS5165.1																																																																																				0.473	EYA4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000042282.2	NM_004100		9	44	1	0	7.48e-07	3.59e-06	9	44				
ABCB5	340273	broad.mit.edu	37	7	20725391	20725391	+	Silent	SNP	C	C	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr7:20725391C>T	ENST00000404938.2	+	16	2594	c.1942C>T	c.(1942-1944)Ctg>Ttg	p.L648L	ABCB5_ENST00000258738.6_Silent_p.L203L	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	648					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CTCACTTCCTCTGCACTCTGT	0.398																																						uc003suw.3		NA																	0				skin(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)|pancreas(1)	6						c.(607-609)CTG>TTG		ATP-binding cassette, sub-family B, member 5							93.0	82.0	86.0					7																	20725391		2203	4300	6503	SO:0001819	synonymous_variant	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20725391C>T	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.1942C>T	7.37:g.20725391C>T						ABCB5_uc010kuh.2_Silent_p.L648L	p.L203L	NM_178559	NP_848654	Q2M3G0	ABCB5_HUMAN			7	1153	+			203			Extracellular (Potential).		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Silent	SNP	ENST00000404938.2	37	c.607C>T	CCDS55090.1																																																																																				0.398	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		6	24	0	0	0	0	6	24				
NT5C3A	51251	broad.mit.edu	37	7	33057128	33057128	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr7:33057128C>G	ENST00000242210.7	-	7	707	c.631G>C	c.(631-633)Gag>Cag	p.E211Q	AVL9_ENST00000404479.1_Intron|NT5C3A_ENST00000381626.2_Missense_Mutation_p.E160Q|NT5C3A_ENST00000610140.1_Missense_Mutation_p.E206Q|NT5C3A_ENST00000405342.1_Missense_Mutation_p.E172Q|NT5C3A_ENST00000396152.2_Missense_Mutation_p.E172Q|NT5C3A_ENST00000409787.1_Missense_Mutation_p.E172Q|NT5C3A_ENST00000409467.1_Missense_Mutation_p.E160Q	NM_001002009.2|NM_001002010.2	NP_001002009.1|NP_001002010.1	Q9H0P0	5NT3A_HUMAN	5'-nucleotidase, cytosolic IIIA	211					dephosphorylation (GO:0016311)|nucleobase-containing small molecule metabolic process (GO:0055086)|nucleotide metabolic process (GO:0009117)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|pyrimidine nucleoside metabolic process (GO:0006213)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	2'-phosphotransferase activity (GO:0008665)|5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)	p.E211Q(1)|p.E172Q(1)									ATAACTTCCTCTAGTACATCG	0.378																																						uc003tdk.2		NA																	2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(631-633)GAG>CAG		5'-nucleotidase, cytosolic III isoform 1							118.0	112.0	114.0					7																	33057128		2203	4300	6503	SO:0001583	missense	51251				nucleotide metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol|endoplasmic reticulum	2'-phosphotransferase activity|5'-nucleotidase activity|magnesium ion binding|nucleotide binding	g.chr7:33057128C>G	AF312735	CCDS34616.1, CCDS34617.1, CCDS55101.1	7p14.3	2013-03-06	2013-03-06	2013-03-06	ENSG00000122643	ENSG00000122643	3.1.3.5		17820	protein-coding gene	gene with protein product	"""lupin"""	606224	"""5'-nucleotidase, cytosolic III"""	NT5C3		11042152, 10942414	Standard	NM_001002010		Approved	UMPH1, PSN1, PN-I, UMPH, P5'N-1, cN-III, p36, POMP, hUMP1	uc003tdk.4	Q9H0P0	OTTHUMG00000152983	ENST00000242210.7:c.631G>C	7.37:g.33057128C>G	ENSP00000242210:p.Glu211Gln					AVL9_uc011kai.1_Intron|NT5C3_uc003tdi.2_Missense_Mutation_p.E172Q|NT5C3_uc003tdj.2_Missense_Mutation_p.E172Q	p.E211Q	NM_001002010	NP_001002010	Q9H0P0	5NT3_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		7	708	-			211					A8K253|B2RAA5|B8ZZC4|Q6IPZ1|Q6NXS6|Q7L3G6|Q9P0P5|Q9UC42|Q9UC43|Q9UC44|Q9UC45	Missense_Mutation	SNP	ENST00000242210.7	37	c.631G>C	CCDS34616.1	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736474	0.69189	.	.	ENSG00000122643	ENST00000381626;ENST00000396152;ENST00000242210;ENST00000405342;ENST00000409467;ENST00000409787	D;D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01;-2.01	5.29	5.29	0.74685	HAD-like domain (2);	0.053068	0.64402	D	0.000001	D	0.93025	0.7780	M	0.83483	2.645	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93190	0.6582	10	0.52906	T	0.07	.	18.9692	0.92708	0.0:1.0:0.0:0.0	.	211;172	Q9H0P0;Q9H0P0-1	5NT3_HUMAN;.	Q	160;172;211;172;160;172	ENSP00000371039:E160Q;ENSP00000379456:E172Q;ENSP00000242210:E211Q;ENSP00000385261:E172Q;ENSP00000387166:E160Q;ENSP00000387205:E172Q	ENSP00000242210:E211Q	E	-	1	0	NT5C3	33023653	1.000000	0.71417	0.952000	0.39060	0.180000	0.23129	7.818000	0.86416	2.473000	0.83533	0.655000	0.94253	GAG		0.378	NT5C3A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000328880.1	NM_016489		9	60	0	0	0	0	9	60				
BBS9	27241	broad.mit.edu	37	7	33390925	33390925	+	Silent	SNP	C	C	G			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr7:33390925C>G	ENST00000242067.6	+	14	2048	c.1527C>G	c.(1525-1527)tcC>tcG	p.S509S	BBS9_ENST00000354265.4_Intron|BBS9_ENST00000396127.2_Intron|BBS9_ENST00000355070.2_Silent_p.S509S|BBS9_ENST00000350941.3_Intron	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	509					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TTTCTTATTCCAGACCAACAG	0.323									Bardet-Biedl syndrome																													uc003tdn.1		NA																	0				ovary(3)|upper_aerodigestive_tract(1)|skin(1)	5						c.(1525-1527)TCC>TCG		parathyroid hormone-responsive B1 isoform 2							65.0	66.0	66.0					7																	33390925		2203	4296	6499	SO:0001819	synonymous_variant	27241	Bardet-Biedl_syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	g.chr7:33390925C>G		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.1527C>G	7.37:g.33390925C>G						BBS9_uc003tdo.1_Intron|BBS9_uc003tdp.1_Silent_p.S509S|BBS9_uc003tdq.1_Intron|BBS9_uc010kwn.1_RNA|BBS9_uc003tdr.1_Silent_p.S33S|BBS9_uc003tds.1_5'UTR|BBS9_uc011kao.1_Silent_p.S387S	p.S509S	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	GBM - Glioblastoma multiforme(11;0.0894)		14	2040	+			509					E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Silent	SNP	ENST00000242067.6	37	c.1527C>G	CCDS43566.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.373|8.373	0.835871|0.835871	0.16820|0.16820	.|.	.|.	ENSG00000122507|ENSG00000122507	ENST00000537775|ENST00000434373	.|.	.|.	.|.	5.01|5.01	3.17|3.17	0.36434|0.36434	.|.	.|.	.|.	.|.	.|.	T|T	0.54967|0.54967	0.1891|0.1891	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.46775|0.46775	-0.9167|-0.9167	5|4	0.56958|.	D|.	0.05|.	-1.8575|-1.8575	6.3062|6.3062	0.21139|0.21139	0.0:0.6774:0.1534:0.1693|0.0:0.6774:0.1534:0.1693	.|.	.|.	.|.	.|.	R|E	387|76	.|.	ENSP00000441763:P387R|.	P|Q	+|+	2|1	0|0	BBS9|BBS9	33357450|33357450	0.136000|0.136000	0.22515|0.22515	0.998000|0.998000	0.56505|0.56505	0.968000|0.968000	0.65278|0.65278	0.428000|0.428000	0.21395|0.21395	0.507000|0.507000	0.28148|0.28148	0.557000|0.557000	0.71058|0.71058	CCA|CAG		0.323	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000329064.1			5	49	0	0	0	0	5	49				
ZAN	7455	broad.mit.edu	37	7	100350361	100350361	+	RNA	SNP	T	T	C	rs200387712		TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr7:100350361T>C	ENST00000348028.3	+	0	2798				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000542585.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACGGAAAAACTCACCATCCCC	0.502																																						uc003uwj.2		NA																	0				ovary(4)|large_intestine(3)|central_nervous_system(2)|pancreas(2)	11						c.(2632-2634)CTC>CCC		zonadhesin isoform 3							331.0	375.0	361.0					7																	100350361		1881	4106	5987			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100350361T>C	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100350361T>C						ZAN_uc003uwk.2_Missense_Mutation_p.L878P|ZAN_uc003uwl.2_RNA|ZAN_uc010lhh.2_RNA|ZAN_uc010lhi.2_RNA	p.L878P	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		14	2798	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		878			66 X heptapeptide repeats (approximate) (mucin-like domain).|Extracellular (Potential).		A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	Missense_Mutation	SNP	ENST00000348028.3	37	c.2633T>C		.	.	.	.	.	.	.	.	.	.	c	5.922	0.354238	0.11182	.	.	ENSG00000146839	ENST00000546292;ENST00000538115;ENST00000542585	T;T;T	0.61392	0.11;0.11;0.11	3.16	1.24	0.21308	.	1.200500	0.06499	N	0.736017	T	0.29028	0.0721	N	0.01874	-0.695	0.20403	N	0.999901	B;B	0.14805	0.011;0.01	B;B	0.16722	0.016;0.007	T	0.18777	-1.0326	10	0.30854	T	0.27	.	4.9933	0.14226	0.0:0.6075:0.1758:0.2167	.	878;878	F5H0T8;Q9Y493	.;ZAN_HUMAN	P	878	ENSP00000445943:L878P;ENSP00000445091:L878P;ENSP00000444427:L878P	ENSP00000423579:L878P	L	+	2	0	ZAN	100188297	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.610000	0.05629	0.035000	0.15519	-0.124000	0.14976	CTC		0.502	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		3	47	0	0	0	0	3	47				
GRM8	2918	broad.mit.edu	37	7	126249445	126249445	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr7:126249445C>T	ENST00000339582.2	-	8	2273	c.1465G>A	c.(1465-1467)Ggc>Agc	p.G489S	GRM8_ENST00000358373.3_Missense_Mutation_p.G489S|GRM8_ENST00000444921.2_Missense_Mutation_p.G489S|GRM8_ENST00000480995.1_Intron			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	489					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GTCCAGTGGCCGATGACTTTG	0.378										HNSCC(24;0.065)																												uc003vlr.2		NA																	0				lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1)	23						c.(1465-1467)GGC>AGC		glutamate receptor, metabotropic 8 isoform a	L-Glutamic Acid(DB00142)						236.0	206.0	217.0					7																	126249445		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126249445C>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.1465G>A	7.37:g.126249445C>T	ENSP00000344173:p.Gly489Ser	HNSCC(24;0.065)				GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.G489S|GRM8_uc010lkz.1_RNA	p.G489S	NM_000845	NP_000836	O00222	GRM8_HUMAN			7	1776	-		Prostate(267;0.186)	489			Extracellular (Potential).		A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.1465G>A	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	35	5.552267	0.96501	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373	D;D;D	0.95272	-3.66;-3.66;-3.66	5.45	5.45	0.79879	.	0.114198	0.64402	D	0.000015	D	0.97427	0.9158	M	0.83774	2.66	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.997	D	0.98021	1.0371	10	0.87932	D	0	.	18.2877	0.90119	0.0:1.0:0.0:0.0	.	489;489	O00222-2;O00222	.;GRM8_HUMAN	S	489	ENSP00000344173:G489S;ENSP00000409790:G489S;ENSP00000351142:G489S	ENSP00000344173:G489S	G	-	1	0	GRM8	126036681	1.000000	0.71417	0.996000	0.52242	0.917000	0.54804	7.792000	0.85828	2.535000	0.85469	0.563000	0.77884	GGC		0.378	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			15	93	0	0	0	0	15	93				
TRIM24	8805	broad.mit.edu	37	7	138252356	138252356	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr7:138252356A>C	ENST00000343526.4	+	10	1876	c.1661A>C	c.(1660-1662)aAc>aCc	p.N554T	TRIM24_ENST00000415680.2_Missense_Mutation_p.N520T|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24	554					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.N554T(1)|p.N520T(1)|p.N478T(1)		breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						ATAAAGCCAAACCCCCTACAG	0.423																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)	uc003vuc.2		NA																	3	Substitution - Missense(3)		kidney(3)	central_nervous_system(3)|ovary(2)|stomach(1)|breast(1)|skin(1)	8						c.(1660-1662)AAC>ACC		transcriptional intermediary factor 1 alpha							103.0	93.0	96.0					7																	138252356		2203	4300	6503	SO:0001583	missense	8805				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:138252356A>C	AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.1661A>C	7.37:g.138252356A>C	ENSP00000340507:p.Asn554Thr					TRIM24_uc003vub.2_Missense_Mutation_p.N520T	p.N554T	NM_015905	NP_056989	O15164	TIF1A_HUMAN			10	1876	+			554					A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	ENST00000343526.4	37	c.1661A>C	CCDS5847.1	.	.	.	.	.	.	.	.	.	.	A	10.24	1.294343	0.23564	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680;ENST00000378381	T;T	0.77489	-1.1;-1.1	5.75	5.75	0.90469	.	0.140365	0.64402	D	0.000006	T	0.68742	0.3034	L	0.46157	1.445	0.46167	D	0.998908	P;P	0.48764	0.915;0.628	B;B	0.39465	0.3;0.16	T	0.67492	-0.5657	10	0.12430	T	0.62	-7.0144	14.2921	0.66286	1.0:0.0:0.0:0.0	.	554;520	O15164;O15164-2	TIF1A_HUMAN;.	T	554;465;520;478	ENSP00000340507:N554T;ENSP00000390829:N520T	ENSP00000340507:N554T	N	+	2	0	TRIM24	137902896	1.000000	0.71417	0.978000	0.43139	0.131000	0.20780	6.010000	0.70753	2.195000	0.70347	0.533000	0.62120	AAC		0.423	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341814.1	NM_015905		10	52	0	0	0	0	10	52				
LSM1	27257	broad.mit.edu	37	8	38021331	38021331	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr8:38021331G>T	ENST00000311351.4	-	4	654	c.259C>A	c.(259-261)Ctc>Atc	p.L87I	LSM1_ENST00000522515.1_5'UTR|RP11-90P5.7_ENST00000521915.1_RNA|LSM1_ENST00000520755.1_3'UTR|RP11-90P5.2_ENST00000520598.1_RNA	NM_014462.2	NP_055277.1	O15116	LSM1_HUMAN	LSM1, U6 small nuclear RNA associated	87					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(3)|lung(2)	7	Colorectal(12;0.000442)					ACTTGCTGGAGGGGTGTGTCA	0.458																																						uc003xkw.2		NA																	0					0						c.(259-261)CTC>ATC		Lsm1 protein							104.0	93.0	97.0					8																	38021331		2203	4300	6503	SO:0001583	missense	27257				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|mRNA processing|RNA splicing, via transesterification reactions	cytosol|nucleus|ribonucleoprotein complex	protein binding|RNA binding	g.chr8:38021331G>T	AF000177	CCDS6103.1	8p11.2	2014-02-14	2014-02-14		ENSG00000175324	ENSG00000175324			20472	protein-coding gene	gene with protein product		607281	"""LSM1 homolog, U6 small nuclear RNA associated (S. cerevisiae)"""			12515382, 11953827	Standard	NM_014462		Approved	CASM, YJL124C	uc003xkw.3	O15116	OTTHUMG00000164051	ENST00000311351.4:c.259C>A	8.37:g.38021331G>T	ENSP00000310596:p.Leu87Ile					LSM1_uc003xkx.2_RNA	p.L87I	NM_014462	NP_055277	O15116	LSM1_HUMAN			4	447	-	Colorectal(12;0.000442)		87					B2R5E6	Missense_Mutation	SNP	ENST00000311351.4	37	c.259C>A	CCDS6103.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.196787	0.79015	.	.	ENSG00000175324	ENST00000311351	.	.	.	5.69	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.76730	0.4028	M	0.76328	2.33	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	T	0.78785	-0.2068	9	0.62326	D	0.03	-20.161	11.7167	0.51657	0.1417:0.0:0.8583:0.0	.	87	O15116	LSM1_HUMAN	I	87	.	ENSP00000310596:L87I	L	-	1	0	LSM1	38140488	1.000000	0.71417	0.995000	0.50966	0.998000	0.95712	2.680000	0.46918	1.406000	0.46857	0.650000	0.86243	CTC		0.458	LSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376965.1	NM_014462		8	84	1	0	5.18e-06	2.47e-05	8	84				
BAG4	9530	broad.mit.edu	37	8	38067634	38067634	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr8:38067634G>C	ENST00000287322.4	+	5	1268	c.997G>C	c.(997-999)Gat>Cat	p.D333H	BAG4_ENST00000432471.2_Missense_Mutation_p.D297H	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	333					cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to tumor necrosis factor (GO:0071356)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA modification (GO:0090367)|negative regulation of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:2001145)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein localization to plasma membrane (GO:0072659)|ruffle assembly (GO:0097178)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				TGATGATTCAGATCTTTTGGA	0.463																																						uc003xky.1		NA																	0				ovary(1)	1						c.(997-999)GAT>CAT		BCL2-associated athanogene 4							166.0	134.0	145.0					8																	38067634		2203	4300	6503	SO:0001583	missense	9530				anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity	g.chr8:38067634G>C	AF095194	CCDS6104.1, CCDS56533.1	8p11.23	2008-08-07			ENSG00000156735	ENSG00000156735			940	protein-coding gene	gene with protein product	"""silencer of death domains"""	603884				9873016, 9915703	Standard	NM_004874		Approved	SODD	uc003xky.2	O95429	OTTHUMG00000164064	ENST00000287322.4:c.997G>C	8.37:g.38067634G>C	ENSP00000287322:p.Asp333His					BAG4_uc003xkz.1_Missense_Mutation_p.D297H	p.D333H	NM_004874	NP_004865	O95429	BAG4_HUMAN			5	1279	+	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	333					B4E217|O95818	Missense_Mutation	SNP	ENST00000287322.4	37	c.997G>C	CCDS6104.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465741	0.43839	.	.	ENSG00000156735	ENST00000432471;ENST00000287322	T;T	0.81415	-1.45;-1.49	5.11	5.11	0.69529	.	0.605054	0.17144	N	0.185321	T	0.73697	0.3620	L	0.27053	0.805	0.09310	N	1	B;D	0.56746	0.38;0.977	B;P	0.46718	0.241;0.525	T	0.67639	-0.5619	10	0.51188	T	0.08	-1.0035	11.5481	0.50704	0.0864:0.0:0.9136:0.0	.	297;333	B4E217;O95429	.;BAG4_HUMAN	H	297;333	ENSP00000393298:D297H;ENSP00000287322:D333H	ENSP00000287322:D333H	D	+	1	0	BAG4	38186791	0.542000	0.26426	0.014000	0.15608	0.868000	0.49771	2.284000	0.43478	2.515000	0.84797	0.650000	0.86243	GAT		0.463	BAG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377038.2	NM_004874		12	121	0	0	0	0	12	121				
BAG4	9530	broad.mit.edu	37	8	38067849	38067849	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr8:38067849G>C	ENST00000287322.4	+	5	1483	c.1212G>C	c.(1210-1212)aaG>aaC	p.K404N	BAG4_ENST00000432471.2_Missense_Mutation_p.K368N	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	404	BAG. {ECO:0000255|PROSITE- ProRule:PRU00369}.				cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to tumor necrosis factor (GO:0071356)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of mRNA modification (GO:0090367)|negative regulation of phosphatidylinositol-3,4,5-trisphosphate 5-phosphatase activity (GO:2001145)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell adhesion (GO:0045785)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|protein folding (GO:0006457)|protein heterooligomerization (GO:0051291)|protein localization to plasma membrane (GO:0072659)|ruffle assembly (GO:0097178)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				TAGGAAAAAAGACAGACAAAG	0.423																																						uc003xky.1		NA																	0				ovary(1)	1						c.(1210-1212)AAG>AAC		BCL2-associated athanogene 4							43.0	46.0	45.0					8																	38067849		2203	4300	6503	SO:0001583	missense	9530				anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity	g.chr8:38067849G>C	AF095194	CCDS6104.1, CCDS56533.1	8p11.23	2008-08-07			ENSG00000156735	ENSG00000156735			940	protein-coding gene	gene with protein product	"""silencer of death domains"""	603884				9873016, 9915703	Standard	NM_004874		Approved	SODD	uc003xky.2	O95429	OTTHUMG00000164064	ENST00000287322.4:c.1212G>C	8.37:g.38067849G>C	ENSP00000287322:p.Lys404Asn					BAG4_uc003xkz.1_Missense_Mutation_p.K368N	p.K404N	NM_004874	NP_004865	O95429	BAG4_HUMAN			5	1494	+	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	404			BAG.		B4E217|O95818	Missense_Mutation	SNP	ENST00000287322.4	37	c.1212G>C	CCDS6104.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400992	0.62288	.	.	ENSG00000156735	ENST00000432471;ENST00000287322	D;D	0.89939	-2.59;-2.59	5.18	4.31	0.51392	BAG domain (3);	0.102948	0.64402	D	0.000006	D	0.93552	0.7942	M	0.81497	2.545	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.93546	0.6882	10	0.87932	D	0	-17.4958	9.7355	0.40386	0.159:0.0:0.841:0.0	.	368;404	B4E217;O95429	.;BAG4_HUMAN	N	368;404	ENSP00000393298:K368N;ENSP00000287322:K404N	ENSP00000287322:K404N	K	+	3	2	BAG4	38187006	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	2.523000	0.45580	1.330000	0.45394	-0.262000	0.10625	AAG		0.423	BAG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377038.2	NM_004874		4	81	0	0	0	0	4	81				
ODF1	4956	broad.mit.edu	37	8	103564263	103564263	+	Missense_Mutation	SNP	G	G	A	rs538680193		TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr8:103564263G>A	ENST00000285402.3	+	1	464	c.308G>A	c.(307-309)cGa>cAa	p.R103Q		NM_024410.3	NP_077721.2	Q14990	ODFP1_HUMAN	outer dense fiber of sperm tails 1	103					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	nucleus (GO:0005634)|outer dense fiber (GO:0001520)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)			GATGAGAAGCGAGAGCTTGCC	0.363													G|||	1	0.000199681	0.0	0.0	5008	,	,		21389	0.0		0.0	False		,,,				2504	0.001					uc003ykt.2		NA																	0				ovary(2)	2						c.(307-309)CGA>CAA		outer dense fiber of sperm tails 1							81.0	76.0	78.0					8																	103564263		2203	4300	6503	SO:0001583	missense	4956				cell differentiation|multicellular organismal development|spermatogenesis	outer dense fiber	structural molecule activity	g.chr8:103564263G>A	M93131	CCDS6293.1	8q22	2011-09-05	2002-10-21		ENSG00000155087	ENSG00000155087		"""Heat shock proteins / HSPB"""	8113	protein-coding gene	gene with protein product	"""cancer/testis antigen 133"""	182878	"""outer dense fibre of sperm tails 1"""			8305202	Standard	NM_024410		Approved	ODFPG, ODF27, RT7, HSPB10, CT133	uc003ykt.2	Q14990	OTTHUMG00000164719	ENST00000285402.3:c.308G>A	8.37:g.103564263G>A	ENSP00000285402:p.Arg103Gln						p.R103Q	NM_024410	NP_077721	Q14990	ODFP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.000125)|STAD - Stomach adenocarcinoma(118;0.0826)		1	416	+	all_cancers(14;2.76e-05)|all_epithelial(15;4.54e-08)|Lung NSC(17;4.08e-05)|all_lung(17;9.15e-05)		103					Q3SX72	Missense_Mutation	SNP	ENST00000285402.3	37	c.308G>A	CCDS6293.1	.	.	.	.	.	.	.	.	.	.	G	12.38	1.921922	0.33908	.	.	ENSG00000155087	ENST00000285402	T	0.33216	1.42	5.56	3.41	0.39046	.	0.125800	0.36409	N	0.002607	T	0.14485	0.0350	N	0.08118	0	0.80722	D	1	B	0.17465	0.022	B	0.14578	0.011	T	0.06862	-1.0803	10	0.28530	T	0.3	-18.1263	8.9719	0.35912	0.1991:0.0:0.8009:0.0	.	103	Q14990	ODFP1_HUMAN	Q	103	ENSP00000285402:R103Q	ENSP00000285402:R103Q	R	+	2	0	ODF1	103633439	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.683000	0.25349	1.308000	0.44962	0.655000	0.94253	CGA		0.363	ODF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379884.1			14	101	0	0	0	0	14	101				
COL14A1	7373	broad.mit.edu	37	8	121259909	121259909	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr8:121259909G>A	ENST00000297848.3	+	21	2807	c.2537G>A	c.(2536-2538)cGc>cAc	p.R846H	COL14A1_ENST00000309791.4_Missense_Mutation_p.R846H|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.R751H	NM_021110.1	NP_066933.1			collagen, type XIV, alpha 1											NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AACCGGTTGCGCATTACGTGG	0.458																																						uc003yox.2		NA																	0				ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1)	12						c.(2536-2538)CGC>CAC		collagen, type XIV, alpha 1 precursor							107.0	94.0	99.0					8																	121259909		2203	4300	6503	SO:0001583	missense	7373				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	g.chr8:121259909G>A		CCDS34938.1	8q23	2013-02-11	2008-02-04		ENSG00000187955	ENSG00000187955		"""Collagens"", ""Fibronectin type III domain containing"""	2191	protein-coding gene	gene with protein product		120324	"""undulin"""	UND		1716629, 9427527	Standard	NM_021110		Approved		uc003yox.4	Q05707	OTTHUMG00000149877	ENST00000297848.3:c.2537G>A	8.37:g.121259909G>A	ENSP00000297848:p.Arg846His					COL14A1_uc003yoy.2_Missense_Mutation_p.R524H	p.R846H	NM_021110	NP_066933	Q05707	COEA1_HUMAN	OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)		21	2802	+	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		846			Fibronectin type-III 7.			Missense_Mutation	SNP	ENST00000297848.3	37	c.2537G>A	CCDS34938.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.001368	0.93227	.	.	ENSG00000187955	ENST00000309791;ENST00000297848;ENST00000247781;ENST00000434620	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.47	5.47	0.80525	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.051779	0.64402	D	0.000001	T	0.76241	0.3960	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.991;0.999	T	0.77133	-0.2700	10	0.51188	T	0.08	.	19.7038	0.96066	0.0:0.0:1.0:0.0	.	846;846	Q05707-2;Q05707	.;COEA1_HUMAN	H	846;846;751;659	ENSP00000311809:R846H;ENSP00000297848:R846H;ENSP00000247781:R751H;ENSP00000409461:R659H	ENSP00000247781:R751H	R	+	2	0	COL14A1	121329090	1.000000	0.71417	0.974000	0.42286	0.803000	0.45373	5.238000	0.65366	2.745000	0.94114	0.462000	0.41574	CGC		0.458	COL14A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313657.2	NM_021110		33	71	0	0	0	0	33	71				
TJP2	9414	broad.mit.edu	37	9	71851111	71851111	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr9:71851111A>T	ENST00000377245.4	+	13	2156	c.1948A>T	c.(1948-1950)Att>Ttt	p.I650F	TJP2_ENST00000539225.1_Missense_Mutation_p.I681F|TJP2_ENST00000453658.2_Missense_Mutation_p.I627F|TJP2_ENST00000265384.7_Missense_Mutation_p.I650F|TJP2_ENST00000348208.4_Missense_Mutation_p.I650F|TJP2_ENST00000535702.1_Missense_Mutation_p.I654F	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	650	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|hippo signaling (GO:0035329)|nucleotide phosphorylation (GO:0046939)|response to organic substance (GO:0010033)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	guanylate kinase activity (GO:0004385)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GGCTGTGAGGATTGGGAACGA	0.522																																						uc004ahe.2		NA																	0					0						c.(1948-1950)ATT>TTT		tight junction protein 2 (zona occludens 2)							99.0	93.0	95.0					9																	71851111		2203	4300	6503	SO:0001583	missense	9414				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding	g.chr9:71851111A>T	L27476	CCDS6627.1, CCDS6628.1, CCDS55314.1, CCDS55315.1, CCDS55316.1, CCDS55317.1	9q13-q21	2012-07-12	2012-07-12		ENSG00000119139	ENSG00000119139			11828	protein-coding gene	gene with protein product	"""Friedreich ataxia region gene X104 (tight junction protein ZO-2)"", ""zona occludens 2"""	607709	"""deafness, autosomal dominant 51"""	DFNA51		7951235, 20602916	Standard	NM_001170630		Approved	ZO-2, X104, ZO2	uc011lrv.2	Q9UDY2	OTTHUMG00000019978	ENST00000377245.4:c.1948A>T	9.37:g.71851111A>T	ENSP00000366453:p.Ile650Phe					TJP2_uc011lrs.1_Missense_Mutation_p.I627F|TJP2_uc011lrt.1_Missense_Mutation_p.I627F|TJP2_uc004ahd.2_Missense_Mutation_p.I650F|TJP2_uc004ahf.2_Missense_Mutation_p.I650F|TJP2_uc011lru.1_Missense_Mutation_p.I654F|TJP2_uc011lrv.1_Missense_Mutation_p.I672F	p.I650F	NM_004817	NP_004808	Q9UDY2	ZO2_HUMAN			13	2148	+			650			SH3.		A2A3H9|B7Z2R8|B7Z7T6|F5H301|F5H886|Q15883|Q5VXL0|Q5VXL1|Q8N756|Q8NI14|Q99839|Q9UDY0|Q9UDY1	Missense_Mutation	SNP	ENST00000377245.4	37	c.1948A>T	CCDS6627.1	.	.	.	.	.	.	.	.	.	.	A	19.81	3.896437	0.72639	.	.	ENSG00000119139	ENST00000453658;ENST00000377245;ENST00000348208;ENST00000265384;ENST00000535702;ENST00000539225	T;T;T;T;T;T	0.08008	3.14;3.14;3.14;3.14;3.14;3.14	5.26	5.26	0.73747	Src homology-3 domain (3);Variant SH3 (1);	0.385921	0.28606	N	0.014753	T	0.25306	0.0615	L	0.52905	1.665	0.52501	D	0.999953	D;D;D;D;D	0.89917	1.0;0.961;0.97;0.985;0.989	D;P;P;D;P	0.83275	0.996;0.823;0.62;0.925;0.779	T	0.00514	-1.1695	10	0.87932	D	0	.	15.4683	0.75419	1.0:0.0:0.0:0.0	.	681;654;650;650;650	F5H301;F5H886;Q9UDY2-2;Q9UDY2;Q9UDY2-5	.;.;.;ZO2_HUMAN;.	F	627;650;650;650;654;681	ENSP00000392178:I627F;ENSP00000366453:I650F;ENSP00000345893:I650F;ENSP00000265384:I650F;ENSP00000442090:I654F;ENSP00000438262:I681F	ENSP00000265384:I650F	I	+	1	0	TJP2	71040931	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	4.815000	0.62634	2.120000	0.65058	0.260000	0.18958	ATT		0.522	TJP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052572.2	NM_201629		9	63	0	0	0	0	9	63				
CCDC183	84960	broad.mit.edu	37	9	139700965	139700965	+	Silent	SNP	C	C	T			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr9:139700965C>T	ENST00000338005.6	+	11	1154	c.1119C>T	c.(1117-1119)tcC>tcT	p.S373S	KIAA1984_ENST00000371682.3_3'UTR|KIAA1984-AS1_ENST00000414656.1_RNA|RABL6_ENST00000371671.4_5'Flank|RP11-216L13.19_ENST00000415992.1_RNA|RP11-216L13.18_ENST00000471502.1_RNA|RABL6_ENST00000371663.4_5'Flank|RABL6_ENST00000311502.7_5'Flank|RABL6_ENST00000357466.2_5'Flank	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		373										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		GCTTCAAGTCCGTTGAGAAGA	0.582																																						uc004cjf.2		NA																	0				ovary(1)	1						c.(1117-1119)TCC>TCT		hypothetical protein LOC84960							36.0	42.0	40.0					9																	139700965		2060	4206	6266	SO:0001819	synonymous_variant	84960							g.chr9:139700965C>T																												ENST00000338005.6:c.1119C>T	9.37:g.139700965C>T						C9orf86_uc004cjm.2_5'Flank|C9orf86_uc004cjh.2_5'Flank|C9orf86_uc004cjj.1_5'Flank|C9orf86_uc004cjk.1_5'Flank|C9orf86_uc004cji.1_5'Flank|C9orf86_uc010nbr.1_5'Flank|LOC100131193_uc004cjg.1_RNA	p.S373S	NM_001039374	NP_001034463	Q5T5S1	K1984_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)	11	1167	+	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)	373			Potential.		B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Silent	SNP	ENST00000338005.6	37	c.1119C>T	CCDS43906.1																																																																																				0.582	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354899.1			4	34	0	0	0	0	4	34				
TBX22	50945	broad.mit.edu	37	X	79282319	79282319	+	Silent	SNP	C	C	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chrX:79282319C>A	ENST00000373294.5	+	5	778	c.750C>A	c.(748-750)tcC>tcA	p.S250S	TBX22_ENST00000373291.1_Silent_p.S130S|TBX22_ENST00000373296.3_Silent_p.S250S|TBX22_ENST00000442340.1_Silent_p.S130S	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	250					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AAACATTCTCCTTTAAAGAAA	0.478																																						uc010nmg.1		NA																	0				lung(7)|large_intestine(3)|central_nervous_system(2)|breast(1)|skin(1)|ovary(1)	15						c.(748-750)TCC>TCA		T-box 22 isoform 1							115.0	88.0	97.0					X																	79282319		2203	4300	6503	SO:0001819	synonymous_variant	50945				multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:79282319C>A	AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.750C>A	X.37:g.79282319C>A						TBX22_uc004edi.1_Silent_p.S130S|TBX22_uc004edj.1_Silent_p.S250S	p.S250S	NM_001109878	NP_001103348	Q9Y458	TBX22_HUMAN			6	884	+			250			T-box.		Q5JZ06|Q96LC0|Q9HBF1	Silent	SNP	ENST00000373294.5	37	c.750C>A	CCDS14445.1																																																																																				0.478	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057334.1	NM_016954		22	15	1	0	1.11e-12	5.4e-12	22	15				
HPRT1	3251	broad.mit.edu	37	X	133609219	133609219	+	Missense_Mutation	SNP	G	G	A	rs387906725		TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chrX:133609219G>A	ENST00000298556.7	+	3	302	c.143G>A	c.(142-144)cGt>cAt	p.R48H	HPRT1_ENST00000462974.1_3'UTR	NM_000194.2	NP_000185.1	P00492	HPRT_HUMAN	hypoxanthine phosphoribosyltransferase 1	48			R -> H (in GOUT-HPRT; AD and DD).		adenine salvage (GO:0006168)|central nervous system neuron development (GO:0021954)|cerebral cortex neuron differentiation (GO:0021895)|cytolysis (GO:0019835)|dendrite morphogenesis (GO:0048813)|dopamine metabolic process (GO:0042417)|GMP catabolic process (GO:0046038)|GMP salvage (GO:0032263)|grooming behavior (GO:0007625)|guanine salvage (GO:0006178)|hypoxanthine metabolic process (GO:0046100)|hypoxanthine salvage (GO:0043103)|IMP metabolic process (GO:0046040)|IMP salvage (GO:0032264)|locomotory behavior (GO:0007626)|lymphocyte proliferation (GO:0046651)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of dopamine metabolic process (GO:0045964)|protein homotetramerization (GO:0051289)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide biosynthetic process (GO:0006164)|purine ribonucleoside salvage (GO:0006166)|purine-containing compound salvage (GO:0043101)|response to amphetamine (GO:0001975)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	guanine phosphoribosyltransferase activity (GO:0052657)|hypoxanthine phosphoribosyltransferase activity (GO:0004422)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)|protein homodimerization activity (GO:0042803)	p.R48H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(192;0.000127)				Azathioprine(DB00993)|Mercaptopurine(DB01033)|Tioguanine(DB00352)	AGGACTGAACGTCTTGCTCGA	0.403																																						uc004exl.3		NA																	1	Substitution - Missense(1)		large_intestine(1)		0	GRCh37	CM920351	HPRT1	M		c.(142-144)CGT>CAT		hypoxanthine phosphoribosyltransferase 1	Mercaptopurine(DB01033)|Thioguanine(DB00352)						68.0	60.0	63.0					X																	133609219		2203	4300	6503	SO:0001583	missense	3251				adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP catabolic process|GMP salvage|grooming behavior|guanine salvage|hypoxanthine salvage|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|protein homotetramerization|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	guanine phosphoribosyltransferase activity|hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity	g.chrX:133609219G>A	M26434	CCDS14641.1	Xq26.2	2012-10-02	2008-08-01		ENSG00000165704	ENSG00000165704	2.4.2.8		5157	protein-coding gene	gene with protein product	"""Lesch-Nyhan syndrome"""	308000		HPRT		12175903	Standard	NM_000194		Approved	HGPRT	uc004exl.4	P00492	OTTHUMG00000022452	ENST00000298556.7:c.143G>A	X.37:g.133609219G>A	ENSP00000298556:p.Arg48His					HPRT1_uc010nrs.2_RNA	p.R48H	NM_000194	NP_000185	P00492	HPRT_HUMAN			3	310	+	Acute lymphoblastic leukemia(192;0.000127)		48		R -> H (in GOUT-HPRT; AD and DD).			A6NHF0|B2R8M9	Missense_Mutation	SNP	ENST00000298556.7	37	c.143G>A	CCDS14641.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.678851	0.88542	.	.	ENSG00000165704	ENST00000298556;ENST00000370796	D	0.99864	-7.28	4.68	4.68	0.58851	Phosphoribosyltransferase (1);	0.051480	0.64402	D	0.000001	D	0.99819	0.9920	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.71414	0.973	D	0.96459	0.9340	10	0.87932	D	0	-3.8816	16.0028	0.80308	0.0:0.0:1.0:0.0	.	48	P00492	HPRT_HUMAN	H	48	ENSP00000298556:R48H	ENSP00000298556:R48H	R	+	2	0	HPRT1	133436885	1.000000	0.71417	0.710000	0.30468	0.977000	0.68977	9.378000	0.97191	2.057000	0.61298	0.600000	0.82982	CGT		0.403	HPRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058361.1	NM_000194		7	25	0	0	0	0	7	25				
MAP10	54627	broad.mit.edu	37	1	232940983	232940984	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr1:232940983_232940984insA	ENST00000418460.1	+	1	341_342	c.214_215insA	c.(214-216)caafs	p.Q72fs		NM_019090.2	NP_061963.2	Q9P2G4	MAP10_HUMAN	microtubule-associated protein 10	0					cytoplasmic microtubule organization (GO:0031122)|positive regulation of cytokinesis (GO:0032467)|regulation of microtubule-based process (GO:0032886)|spindle midzone assembly involved in mitosis (GO:0051256)	centrosome (GO:0005813)|cytoplasmic microtubule (GO:0005881)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|mitotic spindle pole (GO:0097431)	microtubule binding (GO:0008017)										AGGTTGGTGGCAAAAAACGGCT	0.45																																						uc001hvh.2		NA																	0				ovary(1)	1						c.(214-216)CAAfs		hypothetical protein LOC54627																																				SO:0001589	frameshift_variant	54627							g.chr1:232940983_232940984insA	AB037804	CCDS44334.1	1q42.2	2013-02-12	2013-02-12	2013-02-12	ENSG00000212916	ENSG00000212916			29265	protein-coding gene	gene with protein product	"""microtubule regulator 120 KDa"""		"""KIAA1383"""	KIAA1383		23264731	Standard	NM_019090		Approved	MTR120	uc001hvh.2	Q9P2G4	OTTHUMG00000037819	ENST00000418460.1:c.220dupA	1.37:g.232940989_232940989dupA	ENSP00000403208:p.Gln72fs						p.Q72fs	NM_019090	NP_061963	Q9P2G4	K1383_HUMAN			1	346_347	+		all_cancers(173;0.00528)|Prostate(94;0.122)|all_epithelial(177;0.169)	Error:Variant_position_missing_in_Q9P2G4_after_alignment					A8K2F1|Q32MI1|Q58EZ9|Q5VV83	Frame_Shift_Ins	INS	ENST00000418460.1	37	c.214_215insA	CCDS44334.1																																																																																				0.450	MAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092317.3	NM_019090		37	96	NA	NA	NA	NA	37	96	---	---	---	---
RUNX1	861	broad.mit.edu	37	21	36171600	36171601	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-7090-01A-11D-2012-08	TCGA-CV-7090-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	5c636c2d-f426-43a9-984d-b4455e4388e5	c956aeba-c031-410c-84af-af79863b044d	g.chr21:36171600_36171601insA	ENST00000344691.4	-	5	2460_2461	c.883_884insT	c.(883-885)tcafs	p.S295fs	RUNX1_ENST00000437180.1_Frame_Shift_Ins_p.S322fs|RUNX1_ENST00000399240.1_Frame_Shift_Ins_p.S231fs|RUNX1_ENST00000325074.5_Frame_Shift_Ins_p.S310fs|RUNX1_ENST00000300305.3_Frame_Shift_Ins_p.S322fs	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	295	Interaction with KAT6A.|Pro/Ser/Thr-rich.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)	p.S322fs*160(1)		breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						TGGCTTACTTGAGAGTCGACTG	0.52			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	uc002yuh.2		NA		Dom	yes		21	21q22.3	861	T	runt-related transcription factor 1  (AML1)			L	RPL22|MDS1|EVI1|CBFA2T3|CBFA2T1|ETV6|LAF4		AML|preB- ALL|T-ALL		1	Deletion - Frameshift(1)	p.S322fs*160(1)	haematopoietic_and_lymphoid_tissue(1)	haematopoietic_and_lymphoid_tissue(383)|lung(2)|ovary(1)|central_nervous_system(1)	387						c.(883-885)TCAfs		runt-related transcription factor 1 isoform																																				SO:0001589	frameshift_variant	861	Platelet_disorder_associated_with_Myeloid_Malignancies			myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus|nucleus	ATP binding|calcium ion binding|DNA binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr21:36171600_36171601insA	X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.884dupT	21.37:g.36171601_36171601dupA	ENSP00000340690:p.Ser295fs					RUNX1_uc002yui.2_Frame_Shift_Ins_p.S231fs|RUNX1_uc010gmu.2_Frame_Shift_Ins_p.S322fs|RUNX1_uc010gmv.2_Frame_Shift_Ins_p.S322fs|RUNX1_uc002yuj.3_Frame_Shift_Ins_p.S190fs|RUNX1_uc002yuk.3_Frame_Shift_Ins_p.S322fs|RUNX1_uc002yul.1_Frame_Shift_Ins_p.S87fs|RUNX1_uc002yum.1_Frame_Shift_Ins_p.S126fs	p.S295fs	NM_001001890	NP_001001890	Q01196	RUNX1_HUMAN			5	2461_2462	-			295	Missing: No DNA-binding.		Interaction with MYST3.|Pro/Ser/Thr-rich.		A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Frame_Shift_Ins	INS	ENST00000344691.4	37	c.883_884insT	CCDS42922.1																																																																																				0.520	RUNX1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000194230.1			14	81	NA	NA	NA	NA	14	81	---	---	---	---
