#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
MEGF6	1953	broad.mit.edu	37	1	3428684	3428684	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr1:3428684C>T	ENST00000356575.4	-	8	1088	c.862G>A	c.(862-864)Gaa>Aaa	p.E288K	MEGF6_ENST00000294599.4_Missense_Mutation_p.E183K	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	288	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCGGCACATTCGTCCACATCT	0.647																																					Ovarian(73;978 3658)	uc001akl.2		NA																	0				large_intestine(1)	1						c.(862-864)GAA>AAA		EGF-like-domain, multiple 3 precursor							53.0	62.0	59.0					1																	3428684		2114	4225	6339	SO:0001583	missense	1953					extracellular region	calcium ion binding	g.chr1:3428684C>T	AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.862G>A	1.37:g.3428684C>T	ENSP00000348982:p.Glu288Lys					MEGF6_uc001akk.2_Missense_Mutation_p.E183K	p.E288K	NM_001409	NP_001400	O75095	MEGF6_HUMAN		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)	8	1089	-	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)	288			EGF-like 5; calcium-binding (Potential).		Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	c.862G>A	CCDS41237.1	.	.	.	.	.	.	.	.	.	.	C	18.83	3.706708	0.68615	.	.	ENSG00000162591	ENST00000294599;ENST00000356575	D;D	0.98849	-5.18;-5.18	4.46	4.46	0.54185	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99492	0.9819	H	0.98068	4.14	0.48830	D	0.999716	D;D	0.89917	1.0;1.0	D;D	0.97110	0.994;1.0	D	0.97938	1.0324	10	0.72032	D	0.01	-27.144	16.6851	0.85303	0.0:1.0:0.0:0.0	.	288;183	O75095;O75095-2	MEGF6_HUMAN;.	K	183;288	ENSP00000294599:E183K;ENSP00000348982:E288K	ENSP00000294599:E183K	E	-	1	0	MEGF6	3418544	1.000000	0.71417	0.991000	0.47740	0.123000	0.20343	7.606000	0.82863	2.007000	0.58848	0.491000	0.48974	GAA		0.647	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409		30	95	0	0	0	0	30	95				
TGFBR3	7049	broad.mit.edu	37	1	92161270	92161270	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr1:92161270G>A	ENST00000525962.1	-	15	2457	c.2396C>T	c.(2395-2397)gCa>gTa	p.A799V	TGFBR3_ENST00000212355.4_Missense_Mutation_p.A799V|TGFBR3_ENST00000370399.2_Missense_Mutation_p.A798V			Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	799					blastocyst development (GO:0001824)|blood vessel development (GO:0001568)|BMP signaling pathway (GO:0030509)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac muscle cell proliferation (GO:0060038)|cell growth (GO:0016049)|cell migration (GO:0016477)|definitive erythrocyte differentiation (GO:0060318)|definitive hemopoiesis (GO:0060216)|epithelial to mesenchymal transition (GO:0001837)|heart morphogenesis (GO:0003007)|heart trabecula formation (GO:0060347)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|liver development (GO:0001889)|negative regulation of cellular component movement (GO:0051271)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ regeneration (GO:0031100)|palate development (GO:0060021)|pathway-restricted SMAD protein phosphorylation (GO:0060389)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of protein binding (GO:0043393)|response to follicle-stimulating hormone (GO:0032354)|response to hypoxia (GO:0001666)|response to luteinizing hormone (GO:0034699)|response to prostaglandin E (GO:0034695)|transforming growth factor beta receptor complex assembly (GO:0007181)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|inhibin-betaglycan-ActRII complex (GO:0034673)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	coreceptor activity (GO:0015026)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|PDZ domain binding (GO:0030165)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type III (GO:0070123)|transforming growth factor beta receptor binding (GO:0005160)|transforming growth factor beta-activated receptor activity (GO:0005024)|type II transforming growth factor beta receptor binding (GO:0005114)			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CGTCAGGAGTGCTCCGATCAC	0.473																																						uc001doh.2		NA																	0				ovary(3)	3						c.(2395-2397)GCA>GTA		transforming growth factor, beta receptor III							152.0	132.0	139.0					1																	92161270		2203	4300	6503	SO:0001583	missense	7049				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding	g.chr1:92161270G>A	L07594	CCDS30770.1, CCDS55614.1	1p33-p32	2008-02-05	2007-02-15		ENSG00000069702	ENSG00000069702		"""Proteoglycans / Cell surface : Other"""	11774	protein-coding gene	gene with protein product	"""betaglycan proteoglycan"""	600742	"""transforming growth factor, beta receptor III (betaglycan, 300kDa)"""			1333192, 1319842	Standard	NM_001195684		Approved	betaglycan, BGCAN	uc001doh.3	Q03167	OTTHUMG00000010097	ENST00000525962.1:c.2396C>T	1.37:g.92161270G>A	ENSP00000436127:p.Ala799Val					TGFBR3_uc009wde.2_Missense_Mutation_p.A494V|TGFBR3_uc010osy.1_Missense_Mutation_p.A757V|TGFBR3_uc001doi.2_Missense_Mutation_p.A798V|TGFBR3_uc001doj.2_Missense_Mutation_p.A798V	p.A799V	NM_003243	NP_003234	Q03167	TGBR3_HUMAN		all cancers(265;0.0108)|Epithelial(280;0.0825)	16	2862	-		all_lung(203;0.00719)|Lung NSC(277;0.0268)	799			Helical; (Potential).		A0AUW8|A8K5N0|B9EG88|Q5T2T4|Q5U731|Q9UGI2	Missense_Mutation	SNP	ENST00000525962.1	37	c.2396C>T	CCDS30770.1	.	.	.	.	.	.	.	.	.	.	G	18.14	3.557820	0.65425	.	.	ENSG00000069702	ENST00000212355;ENST00000370399;ENST00000525962;ENST00000465892	T;T;T;T	0.28255	1.62;1.62;1.62;1.62	5.5	5.5	0.81552	.	0.050991	0.85682	D	0.000000	T	0.44519	0.1297	M	0.68952	2.095	0.80722	D	1	P;P;D	0.71674	0.936;0.948;0.998	P;P;P	0.62184	0.619;0.71;0.899	T	0.17410	-1.0370	10	0.37606	T	0.19	-8.2267	19.397	0.94611	0.0:0.0:1.0:0.0	.	799;798;799	A8K5N0;Q03167-2;Q03167	.;.;TGBR3_HUMAN	V	799;798;799;798	ENSP00000212355:A799V;ENSP00000359426:A798V;ENSP00000436127:A799V;ENSP00000432638:A798V	ENSP00000212355:A799V	A	-	2	0	TGFBR3	91933858	1.000000	0.71417	0.986000	0.45419	0.991000	0.79684	7.208000	0.77907	2.585000	0.87301	0.563000	0.77884	GCA		0.473	TGFBR3-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382308.1	NM_003243		17	34	0	0	0	0	17	34				
HRNR	388697	broad.mit.edu	37	1	152187759	152187759	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr1:152187759G>A	ENST00000368801.2	-	3	6421	c.6346C>T	c.(6346-6348)Cag>Tag	p.Q2116*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2116					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAGAGGACTGCCCTGAGCTA	0.582																																						uc001ezt.1		NA																	0				skin(2)|ovary(1)	3						c.(6346-6348)CAG>TAG		hornerin							10.0	3.0	5.0					1																	152187759		1468	2979	4447	SO:0001587	stop_gained	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187759G>A	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6346C>T	1.37:g.152187759G>A	ENSP00000357791:p.Gln2116*						p.Q2116*	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6422	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2116			23		Q5DT20|Q5U1F4	Nonsense_Mutation	SNP	ENST00000368801.2	37	c.6346C>T	CCDS30859.1	.	.	.	.	.	.	.	.	.	.	-	43	10.415370	0.99401	.	.	ENSG00000197915	ENST00000368801	.	.	.	3.93	-0.725	0.11174	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	14.5482	0.68047	0.0:0.5858:0.4142:0.0	.	.	.	.	X	2116	.	ENSP00000357791:Q2116X	Q	-	1	0	HRNR	150454383	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.055000	0.14229	-0.213000	0.10094	0.603000	0.83216	CAG		0.582	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		11	494	0	0	0	0	11	494				
FLG	2312	broad.mit.edu	37	1	152281685	152281685	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr1:152281685C>T	ENST00000368799.1	-	3	5712	c.5677G>A	c.(5677-5679)Gac>Aac	p.D1893N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1893	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAGAGCTGTCGGCCCGAGAG	0.572									Ichthyosis																													uc001ezu.1		NA																	0				ovary(9)|skin(4)|upper_aerodigestive_tract(3)	16						c.(5677-5679)GAC>AAC		filaggrin							268.0	271.0	270.0					1																	152281685		2203	4300	6503	SO:0001583	missense	2312	Ichthyosis	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	g.chr1:152281685C>T	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.5677G>A	1.37:g.152281685C>T	ENSP00000357789:p.Asp1893Asn						p.D1893N	NM_002016	NP_002007	P20930	FILA_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	5713	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1893			Ser-rich.|Filaggrin 11.		Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	c.5677G>A	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	C	11.28	1.591368	0.28357	.	.	ENSG00000143631	ENST00000368799;ENST00000271820	T	0.08008	3.14	1.84	1.84	0.25277	.	.	.	.	.	T	0.11879	0.0289	M	0.77616	2.38	0.09310	N	1	D	0.76494	0.999	D	0.79784	0.993	T	0.14531	-1.0469	9	0.23891	T	0.37	.	7.2251	0.26010	0.0:1.0:0.0:0.0	.	1893	P20930	FILA_HUMAN	N	1893;128	ENSP00000357789:D1893N	ENSP00000271820:D128N	D	-	1	0	FLG	150548309	0.749000	0.28305	0.011000	0.14972	0.005000	0.04900	0.628000	0.24522	1.356000	0.45884	0.586000	0.80456	GAC		0.572	FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016		56	235	0	0	0	0	56	235				
PLEKHA6	22874	broad.mit.edu	37	1	204210594	204210594	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr1:204210594G>C	ENST00000272203.3	-	17	2634	c.2318C>G	c.(2317-2319)cCt>cGt	p.P773R	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.P793R	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	773										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TTTTGTCCGAGGGGGCACAAC	0.572																																						uc001hau.2		NA																	0				ovary(3)|pancreas(1)	4						c.(2317-2319)CCT>CGT		phosphoinositol 3-phosphate-binding protein-3							36.0	31.0	33.0					1																	204210594		2203	4300	6503	SO:0001583	missense	22874							g.chr1:204210594G>C	AB023186	CCDS1444.1	1q32	2013-01-10			ENSG00000143850	ENSG00000143850		"""Pleckstrin homology (PH) domain containing"""	17053	protein-coding gene	gene with protein product		607771				11001876	Standard	NM_014935		Approved	PEPP3, KIAA0969	uc001hau.4	Q9Y2H5	OTTHUMG00000036057	ENST00000272203.3:c.2318C>G	1.37:g.204210594G>C	ENSP00000272203:p.Pro773Arg					PLEKHA6_uc009xau.1_RNA	p.P773R	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)		17	2635	-	all_cancers(21;0.0222)|Breast(84;0.179)		773					A7MD51|Q5VTI6	Missense_Mutation	SNP	ENST00000272203.3	37	c.2318C>G	CCDS1444.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.089414	0.76756	.	.	ENSG00000143850	ENST00000272203;ENST00000414478	T;T	0.18810	2.19;2.65	5.81	5.81	0.92471	.	0.171410	0.52532	D	0.000076	T	0.50120	0.1597	M	0.74258	2.255	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.48747	-0.9008	10	0.87932	D	0	-13.7692	19.6713	0.95912	0.0:0.0:1.0:0.0	.	773	Q9Y2H5	PKHA6_HUMAN	R	773;793	ENSP00000272203:P773R;ENSP00000402046:P793R	ENSP00000272203:P773R	P	-	2	0	PLEKHA6	202477217	1.000000	0.71417	0.981000	0.43875	0.638000	0.38207	8.812000	0.91959	2.756000	0.94617	0.655000	0.94253	CCT		0.572	PLEKHA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087889.3	NM_014935		3	15	0	0	0	0	3	15				
MPP7	143098	broad.mit.edu	37	10	28413008	28413008	+	Silent	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr10:28413008G>A	ENST00000375732.1	-	8	826	c.567C>T	c.(565-567)aaC>aaT	p.N189N	MPP7_ENST00000375719.3_Silent_p.N189N|MPP7_ENST00000337532.5_Silent_p.N189N|MPP7_ENST00000540098.1_Silent_p.N189N|MPP7_ENST00000445954.2_Silent_p.N64N|MPP7_ENST00000481244.1_5'UTR			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	189	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CTGGTATCCCGTTGACTTCCC	0.358																																						uc001iua.1		NA																	0				ovary(1)	1						c.(565-567)AAC>AAT		palmitoylated membrane protein 7							108.0	107.0	107.0					10																	28413008		2203	4300	6503	SO:0001819	synonymous_variant	143098				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	g.chr10:28413008G>A	BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.567C>T	10.37:g.28413008G>A						MPP7_uc009xkz.1_RNA|MPP7_uc001iub.1_Silent_p.N189N|MPP7_uc009xla.2_Silent_p.N189N|MPP7_uc010qdv.1_RNA	p.N189N	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN			10	971	-			189			PDZ.		B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Silent	SNP	ENST00000375732.1	37	c.567C>T	CCDS7158.1																																																																																				0.358	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047345.1	NM_173496		8	78	0	0	0	0	8	78				
WDR11	55717	broad.mit.edu	37	10	122622272	122622272	+	Silent	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr10:122622272C>T	ENST00000263461.6	+	5	798	c.552C>T	c.(550-552)ttC>ttT	p.F184F		NM_018117.11	NP_060587.8	Q8WWQ0	PHIP_HUMAN	WD repeat domain 11	492					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GTATTGTTTTCATCTCAGACT	0.418																																						uc010qtf.1		NA																	0					0						c.(550-552)TTC>TTT		bromodomain and WD repeat domain containing 2							139.0	156.0	150.0					10																	122622272		2203	4300	6503	SO:0001819	synonymous_variant	55717					integral to membrane		g.chr10:122622272C>T	AF320223	CCDS7619.1	10q26	2013-01-21	2010-01-06	2010-01-06	ENSG00000120008	ENSG00000120008		"""WD repeat domain containing"""	13831	protein-coding gene	gene with protein product		606417	"""bromodomain and WD repeat domain containing 2"""	BRWD2		10718198, 11536051	Standard	NM_018117		Approved	KIAA1351, FLJ10506, WDR15, HH14, DR11	uc021pzt.1	Q9BZH6	OTTHUMG00000019171	ENST00000263461.6:c.552C>T	10.37:g.122622272C>T						WDR11_uc010qte.1_Intron|WDR11_uc001lfd.1_5'UTR	p.F184F	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN			5	790	+			184					A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Silent	SNP	ENST00000263461.6	37	c.552C>T	CCDS7619.1																																																																																				0.418	WDR11-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050707.2			39	133	0	0	0	0	39	133				
HRAS	3265	broad.mit.edu	37	11	534288	534288	+	Missense_Mutation	SNP	C	C	T	rs104894230		TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:534288C>T	ENST00000451590.1	-	2	222	c.35G>A	c.(34-36)gGc>gAc	p.G12D	HRAS_ENST00000468682.2_5'UTR|HRAS_ENST00000397596.2_Missense_Mutation_p.G12D|HRAS_ENST00000311189.7_Missense_Mutation_p.G12D|HRAS_ENST00000417302.1_Missense_Mutation_p.G12D|HRAS_ENST00000397594.1_Missense_Mutation_p.G12D	NM_001130442.1|NM_005343.2	NP_001123914.1|NP_005334.1	P01112	RASH_HUMAN	Harvey rat sarcoma viral oncogene homolog	12			G -> A (in CSTLO). {ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:16329078, ECO:0000269|PubMed:16443854}.|G -> C (in CSTLO). {ECO:0000269|PubMed:16443854, ECO:0000269|PubMed:18039947}.|G -> D (in CSTLO; severe mutation). {ECO:0000269|PubMed:18039947}.|G -> E (in CSTLO). {ECO:0000269|PubMed:16443854}.|G -> S (in CSTLO, OSCC and CMEMS). {ECO:0000269|PubMed:1459726, ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:16329078, ECO:0000269|PubMed:16443854, ECO:0000269|PubMed:17054105, ECO:0000269|PubMed:17412879}.|G -> V (in CSTLO, bladder carcinoma and CMEMS; constitutively activated; interacts and recruits PLCE1 to plasma membrane; loss of interaction with and recruitment to plasma membrane of PLCE1 when associated with F-32; loss of interaction with PLCE1 when associated with G-26, F-32 and S-35; no effect on interaction with PLCE1 when associated with A-29, G-34, G-37, N-38 and C-39; no effect on subcellular location of isoform 2). {ECO:0000269|PubMed:16170316, ECO:0000269|PubMed:17412879}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intrinsic apoptotic signaling pathway (GO:0097193)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|negative regulation of gene expression (GO:0010629)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Rho GTPase activity (GO:0034259)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of ruffle assembly (GO:1900029)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of wound healing (GO:0090303)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein C-terminus binding (GO:0008022)	p.G12V(252)|p.G12D(48)|p.G12A(9)		adrenal_gland(1)|bone(3)|breast(7)|cervix(23)|endometrium(4)|haematopoietic_and_lymphoid_tissue(12)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|oesophagus(2)|penis(2)|pituitary(10)|prostate(31)|salivary_gland(24)|skin(184)|soft_tissue(38)|stomach(14)|testis(5)|thymus(1)|thyroid(173)|upper_aerodigestive_tract(122)|urinary_tract(225)	901		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCCACACCGCCGGCGCCCAC	0.647	G12D(HS578T_BREAST)|G12V(T24_URINARY_TRACT)	6	Mis		"""infrequent sarcomas, rare other types"""	"""rhadomyosarcoma, ganglioneuroblastoma, bladder"""			Costello syndrome	HNSCC(11;0.0054)																												uc001lpv.2	G12V(T24_URINARY_TRACT)|G12D(HS578T_BREAST)	6	yes	Dom	yes	Costello syndrome	11	11p15.5	3265	Mis	v-Ha-ras Harvey rat sarcoma viral oncogene homolog			"""E, L, M"""		rhadomyosarcoma|ganglioneuroblastoma|bladder	infrequent sarcomas|rare other types		309	Substitution - Missense(309)	p.G12V(250)|p.G12S(54)|p.G12D(40)|p.G12C(23)|p.G12R(12)|p.G12A(7)|p.G12_G13insAG(1)	urinary_tract(107)|thyroid(50)|skin(48)|upper_aerodigestive_tract(34)|soft_tissue(21)|stomach(14)|cervix(12)|salivary_gland(9)|breast(6)|pituitary(5)|oesophagus(1)|prostate(1)|bone(1)	urinary_tract(174)|thyroid(155)|skin(126)|upper_aerodigestive_tract(112)|soft_tissue(37)|prostate(29)|salivary_gland(24)|cervix(23)|stomach(14)|pituitary(10)|lung(9)|haematopoietic_and_lymphoid_tissue(9)|breast(6)|testis(5)|endometrium(4)|bone(3)|large_intestine(2)|oesophagus(2)|penis(2)|kidney(1)|adrenal_gland(1)|thymus(1)	749	GRCh37	CM053284|CM081305	HRAS	M	rs104894230	c.(34-36)GGC>GAC		v-Ha-ras Harvey rat sarcoma viral oncogene	Sulindac(DB00605)						78.0	74.0	75.0					11																	534288		2202	4300	6502	SO:0001583	missense	3265	Costello_syndrome	Familial Cancer Database	incl.: Facio-Cutaneous-Skeletal syndrome	activation of MAPKK activity|axon guidance|blood coagulation|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|Ras protein signal transduction|synaptic transmission	cytosol|Golgi membrane|plasma membrane	GTP binding|GTPase activity|protein C-terminus binding	g.chr11:534288C>T	AJ437024	CCDS7698.1, CCDS7699.1	11p15.5	2014-09-17	2013-07-08		ENSG00000174775	ENSG00000174775			5173	protein-coding gene	gene with protein product		190020	"""v-Ha-ras Harvey rat sarcoma viral oncogene homolog"""	HRAS1			Standard	NM_176795		Approved		uc010qvx.2	P01112	OTTHUMG00000131919	ENST00000451590.1:c.35G>A	11.37:g.534288C>T	ENSP00000407586:p.Gly12Asp	HNSCC(11;0.0054)				HRAS_uc010qvw.1_Missense_Mutation_p.G12D|HRAS_uc010qvx.1_Missense_Mutation_p.G12D|HRAS_uc010qvy.1_RNA	p.G12D	NM_005343	NP_005334	P01112	RASH_HUMAN		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	2	223	-		all_cancers(49;4.37e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)	12		G -> S (in FCSS, OSCC and CMEMS).|G -> E (in FCSS).|G -> C (in FCSS).|G -> A (in FCSS).	GTP.		B5BUA0|Q14080|Q6FHV9|Q9BR65|Q9UCE2	Missense_Mutation	SNP	ENST00000451590.1	37	c.35G>A	CCDS7698.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.989265	0.53934	.	.	ENSG00000174775	ENST00000397594;ENST00000397596;ENST00000451590;ENST00000417302;ENST00000311189	T;T;T;T;T	0.78595	-1.19;-1.19;-1.19;-1.19;-1.19	3.0	3.0	0.34707	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.84973	0.5591	M	0.92412	3.305	0.80722	D	1	P;P	0.35628	0.458;0.513	B;B	0.42827	0.278;0.399	D	0.89215	0.3567	10	0.87932	D	0	.	14.1517	0.65389	0.0:1.0:0.0:0.0	.	12;12	P01112-2;P01112	.;RASH_HUMAN	D	12	ENSP00000380722:G12D;ENSP00000380723:G12D;ENSP00000407586:G12D;ENSP00000388246:G12D;ENSP00000309845:G12D	ENSP00000309845:G12D	G	-	2	0	HRAS	524288	1.000000	0.71417	0.323000	0.25347	0.281000	0.26958	7.472000	0.80996	1.986000	0.57962	0.561000	0.74099	GGC		0.647	HRAS-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259403.2	NM_176795		15	20	0	0	0	0	15	20				
KRTAP5-4	387267	broad.mit.edu	37	11	1642827	1642827	+	Missense_Mutation	SNP	G	G	C	rs374921824|rs541987207	byFrequency	TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:1642827G>C	ENST00000399682.1	-	1	541	c.497C>G	c.(496-498)tCc>tGc	p.S166C		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	0	9 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACCTGAGGAGGAGCAGCAGGG	0.607													g|||	148	0.0295527	0.056	0.0187	5008	,	,		15114	0.0188		0.0229	False		,,,				2504	0.0194					uc009ycy.1		NA																	0					0						c.(634-636)TCC>TGC		keratin associated protein 5-4							22.0	35.0	31.0					11																	1642827		692	1590	2282	SO:0001583	missense	387267					keratin filament		g.chr11:1642827G>C	AB126073		11p15.5	2012-04-19			ENSG00000241598	ENSG00000241598		"""Keratin associated proteins"""	23599	protein-coding gene	gene with protein product						15144888	Standard	NM_001012709		Approved	KRTAP5.4	uc009ycy.1	Q6L8H1	OTTHUMG00000057553	ENST00000399682.1:c.497C>G	11.37:g.1642827G>C	ENSP00000382590:p.Ser166Cys						p.S212C	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	4	722	-		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	226			9 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000399682.1	37	c.635C>G		.	.	.	.	.	.	.	.	.	.	G	2.402	-0.337333	0.05278	.	.	ENSG00000241598	ENST00000399682	T	0.00792	5.69	0.891	-0.0782	0.13716	.	.	.	.	.	T	0.00468	0.0015	N	0.02960	-0.455	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.45056	-0.9287	9	0.51188	T	0.08	.	6.6433	0.22921	0.0:0.5966:0.4034:0.0	.	226	Q6L8H1	KRA54_HUMAN	C	166	ENSP00000382590:S166C	ENSP00000382590:S166C	S	-	2	0	KRTAP5-4	1599403	0.001000	0.12720	0.007000	0.13788	0.001000	0.01503	-0.354000	0.07681	-0.014000	0.14175	-1.289000	0.01358	TCC		0.607	KRTAP5-4-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000127918.1	NM_001012709		4	165	0	0	0	0	4	165				
ST5	6764	broad.mit.edu	37	11	8772184	8772184	+	Missense_Mutation	SNP	G	G	A	rs369103162		TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:8772184G>A	ENST00000534127.1	-	5	449	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W	ST5_ENST00000313726.6_Missense_Mutation_p.R22W|ST5_ENST00000526757.1_Missense_Mutation_p.R22W|ST5_ENST00000357665.1_Missense_Mutation_p.R22W|ST5_ENST00000530438.1_Missense_Mutation_p.R22W	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	22					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R22W(1)		NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		AGAGTCCCCCGAGGGGCTTTA	0.552																																						uc001mgt.2		NA																	1	Substitution - Missense(1)	p.R22W(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)	1						c.(64-66)CGG>TGG		suppression of tumorigenicity 5 isoform 1		G	TRP/ARG,TRP/ARG,TRP/ARG	1,4401	2.1+/-5.4	0,1,2200	200.0	209.0	206.0		64,64,64	6.1	1.0	11		206	0,8592		0,0,4296	no	missense,missense,missense	ST5	NM_005418.3,NM_139157.2,NM_213618.1	101,101,101	0,1,6496	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging,probably-damaging	22/1138,22/718,22/1138	8772184	1,12993	2201	4296	6497	SO:0001583	missense	6764				positive regulation of ERK1 and ERK2 cascade		protein binding	g.chr11:8772184G>A	U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.64C>T	11.37:g.8772184G>A	ENSP00000433528:p.Arg22Trp					ST5_uc009yfr.2_Missense_Mutation_p.R22W|ST5_uc001mgu.2_Missense_Mutation_p.R22W|ST5_uc001mgv.2_Missense_Mutation_p.R22W|ST5_uc010rbq.1_RNA|ST5_uc001mgw.1_Missense_Mutation_p.R22W	p.R22W	NM_213618	NP_998783	P78524	ST5_HUMAN		Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)	2	250	-			22					B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	c.64C>T	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.980348	0.92982	2.27E-4	0.0	ENSG00000166444	ENST00000526757;ENST00000534127;ENST00000313726;ENST00000357665;ENST00000530438;ENST00000447053;ENST00000528196;ENST00000527510;ENST00000530580;ENST00000531093;ENST00000533225;ENST00000526126;ENST00000528523;ENST00000527930;ENST00000533681;ENST00000526241;ENST00000530959;ENST00000533580;ENST00000526155;ENST00000534248;ENST00000527347;ENST00000533016;ENST00000527516;ENST00000527473;ENST00000530938;ENST00000533471;ENST00000524757;ENST00000527392;ENST00000526828;ENST00000525169;ENST00000534665;ENST00000531578	T;T;T;T;T	0.12879	2.64;3.32;3.32;3.32;2.64	6.08	6.08	0.98989	.	0.492607	0.19979	N	0.101801	T	0.27063	0.0663	L	0.48642	1.525	0.34904	D	0.746801	D;D	0.67145	0.996;0.975	P;B	0.56612	0.802;0.432	T	0.07290	-1.0780	10	0.87932	D	0	-1.0001	16.1635	0.81734	0.0:0.0:1.0:0.0	.	22;22	P78524-2;P78524	.;ST5_HUMAN	W	22;22;22;22;22;52;22;22;22;22;22;22;22;52;22;22;22;39;22;22;22;42;22;22;22;22;22;22;22;22;22;22	ENSP00000435097:R22W;ENSP00000433528:R22W;ENSP00000319678:R22W;ENSP00000350294:R22W;ENSP00000436802:R22W	ENSP00000319678:R22W	R	-	1	2	ST5	8728760	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.353000	0.66034	2.894000	0.99253	0.655000	0.94253	CGG		0.552	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1	NM_005418		117	191	0	0	0	0	117	191				
DKK3	27122	broad.mit.edu	37	11	11986065	11986065	+	Silent	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:11986065C>T	ENST00000396505.2	-	8	1237	c.999G>A	c.(997-999)gcG>gcA	p.A333A	DKK3_ENST00000525493.1_Silent_p.A347A|DKK3_ENST00000527132.1_Intron|DKK3_ENST00000326932.4_Silent_p.A333A|DKK3_ENST00000450094.2_Silent_p.A305A	NM_015881.5	NP_056965.3	Q9UBP4	DKK3_HUMAN	dickkopf WNT signaling pathway inhibitor 3	333					adrenal gland development (GO:0030325)|anatomical structure morphogenesis (GO:0009653)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of transcription, DNA-templated (GO:0045892)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1)	8				Epithelial(150;0.000502)		GCTCCCTCAGCGCCATCTCTT	0.577																																						uc001mju.2		NA																	0				breast(1)	1						c.(997-999)GCG>GCA		dickkopf homolog 3 precursor							82.0	101.0	95.0					11																	11986065		2201	4294	6495	SO:0001819	synonymous_variant	27122				adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	extracellular space		g.chr11:11986065C>T	AF177396	CCDS7808.1	11p15.3	2013-05-15	2013-05-15		ENSG00000050165	ENSG00000050165			2893	protein-coding gene	gene with protein product	"""regulated in glioma"""	605416	"""dickkopf (Xenopus laevis) homolog 3"", ""dickkopf 3 homolog (Xenopus laevis)"""			10570958	Standard	XM_006718177		Approved	REIC, RIG	uc001mjv.3	Q9UBP4	OTTHUMG00000165709	ENST00000396505.2:c.999G>A	11.37:g.11986065C>T						DKK3_uc010rcf.1_Silent_p.A305A|DKK3_uc001mjv.2_Silent_p.A333A|DKK3_uc001mjw.2_Silent_p.A333A|DKK3_uc010rcg.1_Silent_p.A347A	p.A333A	NM_001018057	NP_001018067	Q9UBP4	DKK3_HUMAN		Epithelial(150;0.000502)	7	1056	-			333					A8K1I2|D3DQW1|Q9ULB7	Silent	SNP	ENST00000396505.2	37	c.999G>A	CCDS7808.1																																																																																				0.577	DKK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385863.1	NM_013253		15	118	0	0	0	0	15	118				
AGBL2	79841	broad.mit.edu	37	11	47707594	47707594	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:47707594C>T	ENST00000525123.1	-	11	1924	c.1639G>A	c.(1639-1641)Gaa>Aaa	p.E547K	AGBL2_ENST00000357610.3_Missense_Mutation_p.E547K|AGBL2_ENST00000298861.4_Missense_Mutation_p.E547K|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000528244.1_Missense_Mutation_p.E509K	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	547						cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						TCTCTTTCTTCAAGAAGTCTA	0.383																																						uc001ngg.2		NA																	0				ovary(2)	2						c.(1639-1641)GAA>AAA		carboxypeptidase 2, cytosolic							90.0	84.0	86.0					11																	47707594		2201	4298	6499	SO:0001583	missense	79841				proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding	g.chr11:47707594C>T		CCDS7944.1	11p11.2	2014-06-23			ENSG00000165923	ENSG00000165923			26296	protein-coding gene	gene with protein product	"""cytoplasmic carboxypeptidase 2"""					12738998, 21303978	Standard	NM_024783		Approved	FLJ23598, CCP2	uc001ngg.3	Q5U5Z8	OTTHUMG00000165368	ENST00000525123.1:c.1639G>A	11.37:g.47707594C>T	ENSP00000435582:p.Glu547Lys					AGBL2_uc001ngf.2_Intron|AGBL2_uc010rhq.1_Missense_Mutation_p.E509K|AGBL2_uc001ngh.1_Missense_Mutation_p.E491K	p.E547K	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN			10	1739	-			547					A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Missense_Mutation	SNP	ENST00000525123.1	37	c.1639G>A	CCDS7944.1	.	.	.	.	.	.	.	.	.	.	C	16.75	3.210752	0.58343	.	.	ENSG00000165923	ENST00000525123;ENST00000357610;ENST00000298861;ENST00000528244	T;T;T;T	0.10668	2.85;2.85;2.85;2.85	5.36	5.36	0.76844	Peptidase M14, carboxypeptidase A (1);	0.216114	0.45361	D	0.000378	T	0.11665	0.0284	N	0.20574	0.59	0.35002	D	0.756074	B;B;B	0.28026	0.198;0.115;0.115	B;B;B	0.41174	0.171;0.349;0.137	T	0.31336	-0.9947	10	0.38643	T	0.18	-22.7059	12.4408	0.55623	0.0:0.9231:0.0:0.0768	.	509;509;547	F6U0I4;B4DZS1;Q5U5Z8	.;.;CBPC2_HUMAN	K	547;547;547;509	ENSP00000435582:E547K;ENSP00000350228:E547K;ENSP00000298861:E547K;ENSP00000436630:E509K	ENSP00000298861:E547K	E	-	1	0	AGBL2	47664170	0.999000	0.42202	1.000000	0.80357	0.987000	0.75469	3.629000	0.54266	2.522000	0.85027	0.491000	0.48974	GAA		0.383	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783		14	38	0	0	0	0	14	38				
NUP160	23279	broad.mit.edu	37	11	47833636	47833636	+	Silent	SNP	A	A	G			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:47833636A>G	ENST00000378460.2	-	17	2267	c.2221T>C	c.(2221-2223)Tta>Cta	p.L741L	NUP160_ENST00000528501.1_3'UTR|NUP160_ENST00000530326.1_Silent_p.L627L|NUP160_ENST00000528071.1_Silent_p.L627L	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	741					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						AGCCTCATTAACAGCTGCTGT	0.433																																						uc001ngm.2		NA																	0				ovary(4)|lung(1)|central_nervous_system(1)|skin(1)	7						c.(2221-2223)TTA>CTA		nucleoporin 160kDa							93.0	89.0	90.0					11																	47833636		2201	4298	6499	SO:0001819	synonymous_variant	23279				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	g.chr11:47833636A>G	D83781	CCDS31484.1	11p11.12	2008-07-21	2002-08-29		ENSG00000030066	ENSG00000030066			18017	protein-coding gene	gene with protein product		607614	"""nucleoporin 160kD"""			11684705	Standard	NM_015231		Approved	KIAA0197, FLJ22583	uc001ngm.3	Q12769	OTTHUMG00000166534	ENST00000378460.2:c.2221T>C	11.37:g.47833636A>G						NUP160_uc009ylw.2_RNA	p.L741L	NM_015231	NP_056046	Q12769	NU160_HUMAN			17	2306	-			741					B4DYE8|B4E2J9|Q08AD3|Q7Z5X6|Q96GB3|Q9H660	Silent	SNP	ENST00000378460.2	37	c.2221T>C	CCDS31484.1																																																																																				0.433	NUP160-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390239.2	NM_015231		5	42	0	0	0	0	5	42				
TRIM48	79097	broad.mit.edu	37	11	55032498	55032498	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:55032498A>G	ENST00000417545.2	+	2	253	c.167A>G	c.(166-168)tAc>tGc	p.Y56C		NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48	40						intracellular (GO:0005622)	zinc ion binding (GO:0008270)			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						CCCTGTTTCTACCTCAACTGG	0.458																																						uc010rid.1		NA																	0					0						c.(166-168)TAC>TGC		tripartite motif-containing 48							75.0	78.0	77.0					11																	55032498		2186	4262	6448	SO:0001583	missense	79097					intracellular	zinc ion binding	g.chr11:55032498A>G	AF521869	CCDS7947.2	11q12	2013-01-09	2011-01-25		ENSG00000150244	ENSG00000150244		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19021	protein-coding gene	gene with protein product			"""tripartite motif-containing 48"""				Standard	NM_024114		Approved	RNF101	uc010rid.2	Q8IWZ4	OTTHUMG00000157011	ENST00000417545.2:c.167A>G	11.37:g.55032498A>G	ENSP00000402414:p.Tyr56Cys						p.Y56C	NM_024114	NP_077019	Q8IWZ4	TRI48_HUMAN			2	253	+			40			RING-type.		Q9BUW4	Missense_Mutation	SNP	ENST00000417545.2	37	c.167A>G	CCDS7947.2	.	.	.	.	.	.	.	.	.	.	a	0.214	-1.033745	0.02029	.	.	ENSG00000150244	ENST00000417545	T	0.08102	3.13	0.596	-1.19	0.09585	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	.	.	.	.	T	0.06735	0.0172	N	0.02420	-0.555	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.26608	-1.0098	9	0.34782	T	0.22	.	2.4712	0.04565	0.2768:0.314:0.4092:0.0	.	40	Q8IWZ4	TRI48_HUMAN	C	56	ENSP00000402414:Y56C	ENSP00000402414:Y56C	Y	+	2	0	TRIM48	54789074	0.000000	0.05858	0.011000	0.14972	0.008000	0.06430	-0.503000	0.06383	-0.336000	0.08438	-0.530000	0.04314	TAC		0.458	TRIM48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347088.1			23	96	0	0	0	0	23	96				
OR4C15	81309	broad.mit.edu	37	11	55322467	55322467	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:55322467C>A	ENST00000314644.2	+	1	685	c.685C>A	c.(685-687)Cac>Aac	p.H229N		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	175						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TGTCATCAATCACTTTATGTG	0.468										HNSCC(20;0.049)																												uc010rig.1		NA																	0				ovary(1)|skin(1)	2						c.(685-687)CAC>AAC		olfactory receptor, family 4, subfamily C,							103.0	78.0	86.0					11																	55322467		2201	4296	6497	SO:0001583	missense	81309				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55322467C>A	BK004319	CCDS31501.1	11q11	2012-08-09			ENSG00000181939	ENSG00000181939		"""GPCR / Class A : Olfactory receptors"""	15171	protein-coding gene	gene with protein product							Standard	NM_001001920		Approved		uc010rig.2	Q8NGM1	OTTHUMG00000166714	ENST00000314644.2:c.685C>A	11.37:g.55322467C>A	ENSP00000324958:p.His229Asn	HNSCC(20;0.049)					p.H229N	NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN			1	685	+			175			Extracellular (Potential).		Q6IFE2	Missense_Mutation	SNP	ENST00000314644.2	37	c.685C>A	CCDS31501.1	.	.	.	.	.	.	.	.	.	.	C	9.880	1.201323	0.22121	.	.	ENSG00000181939	ENST00000314644	T	0.00164	8.64	5.02	5.02	0.67125	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00328	0.0010	M	0.82630	2.6	0.23341	N	0.99788	B	0.23806	0.091	B	0.33690	0.168	T	0.42137	-0.9469	9	0.59425	D	0.04	.	15.8636	0.79043	0.0:1.0:0.0:0.0	.	175	Q8NGM1	OR4CF_HUMAN	N	229	ENSP00000324958:H229N	ENSP00000324958:H229N	H	+	1	0	OR4C15	55079043	0.854000	0.29725	0.435000	0.26784	0.029000	0.11900	1.634000	0.37123	2.608000	0.88229	0.385000	0.25706	CAC		0.468	OR4C15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391164.1	NM_001001920		11	33	1	0	3.86e-05	4.2e-05	11	33				
SF1	7536	broad.mit.edu	37	11	64544069	64544069	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:64544069G>A	ENST00000377390.3	-	2	398	c.61C>T	c.(61-63)Cgc>Tgc	p.R21C	SF1_ENST00000433274.2_5'UTR|SF1_ENST00000422298.2_5'UTR|SF1_ENST00000334944.5_Missense_Mutation_p.R21C|SF1_ENST00000377387.1_Missense_Mutation_p.R146C|SF1_ENST00000377394.3_Missense_Mutation_p.R21C|AP001462.6_ENST00000594089.1_lincRNA|SF1_ENST00000227503.9_Missense_Mutation_p.R21C	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	21					Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TGGTTCCAGCGGCTCCTCTTC	0.428																																						uc001obb.1		NA																	0				ovary(1)|breast(1)|skin(1)	3						c.(61-63)CGC>TGC		splicing factor 1 isoform 1							125.0	121.0	122.0					11																	64544069		2201	4297	6498	SO:0001583	missense	7536				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	g.chr11:64544069G>A	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.61C>T	11.37:g.64544069G>A	ENSP00000366607:p.Arg21Cys					SF1_uc010rnn.1_5'UTR|SF1_uc001oaz.1_Missense_Mutation_p.R146C|SF1_uc001oba.1_Missense_Mutation_p.R21C|SF1_uc001obc.1_Missense_Mutation_p.R21C|SF1_uc001obd.1_Missense_Mutation_p.R21C|SF1_uc001obe.1_5'UTR|SF1_uc010rno.1_5'UTR|SF1_uc001obf.2_Missense_Mutation_p.R21C	p.R21C	NM_004630	NP_004621	Q15637	SF01_HUMAN			2	438	-			21	R->K: No effect.|R->A: Decreases interaction with U2AF2 and spliceosome assembly.				B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	ENST00000377390.3	37	c.61C>T	CCDS31599.1	.	.	.	.	.	.	.	.	.	.	G	17.54	3.415855	0.62511	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000416674	T;T;T;T;T	0.68903	-0.28;-0.34;-0.3;-0.07;-0.36	5.32	4.39	0.52855	.	0.000000	0.85682	D	0.000000	T	0.78451	0.4285	M	0.63843	1.955	0.80722	D	1	D;P;P;P;P;D	0.89917	1.0;0.869;0.869;0.793;0.869;0.966	D;B;B;B;B;B	0.77557	0.99;0.259;0.259;0.132;0.259;0.378	T	0.80453	-0.1376	10	0.87932	D	0	.	13.0436	0.58915	0.0:0.0:0.8376:0.1624	.	21;21;21;21;21;146	Q14820;Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;.;SF01_HUMAN;.;.	C	146;21;21;21;21;21	ENSP00000366604:R146C;ENSP00000366607:R21C;ENSP00000227503:R21C;ENSP00000366611:R21C;ENSP00000334414:R21C	ENSP00000227503:R21C	R	-	1	0	SF1	64300645	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.213000	0.58520	1.219000	0.43474	0.563000	0.77884	CGC		0.428	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630		8	68	0	0	0	0	8	68				
CNTN5	53942	broad.mit.edu	37	11	99690283	99690283	+	Missense_Mutation	SNP	A	A	G	rs532915134		TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr11:99690283A>G	ENST00000524871.1	+	4	354	c.64A>G	c.(64-66)Aaa>Gaa	p.K22E	CNTN5_ENST00000528682.1_Missense_Mutation_p.K22E|CNTN5_ENST00000279463.3_Missense_Mutation_p.K22E|CNTN5_ENST00000418526.2_Intron|CNTN5_ENST00000527185.1_Missense_Mutation_p.K22E	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	22					cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		AGAGTATTCAAAATCTCTTCC	0.308													A|||	1	0.000199681	0.0008	0.0	5008	,	,		20688	0.0		0.0	False		,,,				2504	0.0					uc001pga.2		NA																	0				skin(3)|ovary(2)|pancreas(2)|breast(1)	8						c.(64-66)AAA>GAA		contactin 5 isoform long							90.0	90.0	90.0					11																	99690283		1823	4073	5896	SO:0001583	missense	53942				cell adhesion	anchored to membrane|plasma membrane	protein binding	g.chr11:99690283A>G	AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.64A>G	11.37:g.99690283A>G	ENSP00000435637:p.Lys22Glu					CNTN5_uc009ywv.1_Missense_Mutation_p.K22E|CNTN5_uc001pfz.2_Missense_Mutation_p.K22E|CNTN5_uc001pgb.2_Intron	p.K22E	NM_014361	NP_055176	O94779	CNTN5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)	4	403	+		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)	22					A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Missense_Mutation	SNP	ENST00000524871.1	37	c.64A>G	CCDS53696.1	.	.	.	.	.	.	.	.	.	.	A	0.093	-1.164432	0.01673	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000279463	T;T;T;T	0.55234	0.53;0.6;0.6;0.6	5.2	-1.24	0.09435	.	0.816744	0.11389	N	0.569017	T	0.26882	0.0658	N	0.08118	0	0.09310	N	0.999999	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.23868	-1.0176	10	0.13108	T	0.6	.	10.0776	0.42370	0.5791:0.0:0.4209:0.0	.	22;22	E9PKE8;O94779	.;CNTN5_HUMAN	E	22	ENSP00000433575:K22E;ENSP00000436185:K22E;ENSP00000435637:K22E;ENSP00000279463:K22E	ENSP00000279463:K22E	K	+	1	0	CNTN5	99195493	0.997000	0.39634	0.095000	0.20976	0.007000	0.05969	1.419000	0.34793	-0.106000	0.12110	-0.248000	0.11899	AAA		0.308	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395148.2	NM_014361		3	67	0	0	0	0	3	67				
ETV6	2120	broad.mit.edu	37	12	12022544	12022544	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr12:12022544G>C	ENST00000396373.4	+	5	924	c.650G>C	c.(649-651)aGa>aCa	p.R217T		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	217					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|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 negative regulation of transcription (GO:0001227)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R217T(1)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CCGGCTGAGAGAGCTCAGGGA	0.632			T	"""NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"""	"""congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"""																																	uc001qzz.2		NA		Dom	yes		12	12p13	2120	T	ets variant gene 6 (TEL oncogene)			"""L, E, M"""	NTRK3|RUNX1|PDGFRB|ABL1|MN1|ABL2|FACL6|CHIC2|ARNT|JAK2|EVI1|CDX2|STL|HLXB9|MDS2|PER1|SYK|TTL|FGFR3|PAX5		congenital fibrosarcoma|multiple leukemia and lymphoma| secretory breast|MDS|ALL	ETV6/NTRK3(234)|ETV6/JAK2(11)	1	Substitution - Missense(1)	p.R217T(1)	upper_aerodigestive_tract(1)	soft_tissue(85)|kidney(66)|breast(55)|salivary_gland(26)|haematopoietic_and_lymphoid_tissue(13)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)|pancreas(1)	250						c.(649-651)AGA>ACA		ets variant 6							115.0	122.0	120.0					12																	12022544		2203	4300	6503	SO:0001583	missense	2120					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr12:12022544G>C	BC043399	CCDS8643.1	12p13	2014-09-17	2008-09-12		ENSG00000139083	ENSG00000139083			3495	protein-coding gene	gene with protein product	"""TEL oncogene"""	600618	"""ets variant gene 6 (TEL oncogene)"""			7731705	Standard	NM_001987		Approved	TEL	uc001qzz.3	P41212	OTTHUMG00000168538	ENST00000396373.4:c.650G>C	12.37:g.12022544G>C	ENSP00000379658:p.Arg217Thr					ETV6_uc001raa.1_Missense_Mutation_p.R10T	p.R217T	NM_001987	NP_001978	P41212	ETV6_HUMAN			5	924	+		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)	217					A3QVP6|A8K076|Q9UMF6|Q9UMF7|Q9UMG0	Missense_Mutation	SNP	ENST00000396373.4	37	c.650G>C	CCDS8643.1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073960	0.36566	.	.	ENSG00000139083	ENST00000396373	T	0.04406	3.63	5.65	4.75	0.60458	.	0.146062	0.64402	D	0.000017	T	0.06142	0.0159	L	0.51422	1.61	0.36259	D	0.854418	B	0.20887	0.049	B	0.16722	0.016	T	0.19418	-1.0306	10	0.11794	T	0.64	.	14.6919	0.69093	0.0713:0.0:0.9287:0.0	.	217	P41212	ETV6_HUMAN	T	217	ENSP00000379658:R217T	ENSP00000379658:R217T	R	+	2	0	ETV6	11913811	1.000000	0.71417	0.998000	0.56505	0.953000	0.61014	6.808000	0.75206	1.352000	0.45808	0.655000	0.94253	AGA		0.632	ETV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400130.2	NM_001987		18	95	0	0	0	0	18	95				
DENND5B	160518	broad.mit.edu	37	12	31613307	31613307	+	Missense_Mutation	SNP	G	G	A	rs576115388		TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr12:31613307G>A	ENST00000389082.5	-	4	1177	c.913C>T	c.(913-915)Cgc>Tgc	p.R305C	DENND5B_ENST00000354285.4_Missense_Mutation_p.R327C|DENND5B_ENST00000536562.1_Missense_Mutation_p.R340C|DENND5B_ENST00000306833.6_Missense_Mutation_p.R340C|DENND5B_ENST00000545147.1_5'UTR	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	305	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GTCATCAGGCGTTGATAATCT	0.393													G|||	1	0.000199681	0.0	0.0	5008	,	,		20259	0.0		0.0	False		,,,				2504	0.001					uc001rki.1		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(913-915)CGC>TGC		DENN/MADD domain containing 5B							76.0	73.0	74.0					12																	31613307		1937	4147	6084	SO:0001583	missense	160518					integral to membrane		g.chr12:31613307G>A	AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.913C>T	12.37:g.31613307G>A	ENSP00000373734:p.Arg305Cys					DENND5B_uc001rkh.1_Missense_Mutation_p.R340C|DENND5B_uc009zjq.1_Missense_Mutation_p.R224C|DENND5B_uc001rkj.2_Missense_Mutation_p.R327C|DENND5B_uc001rkk.1_Missense_Mutation_p.R227C	p.R305C	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN			4	1099	-			305			DENN.		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	c.913C>T	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635053	0.67130	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285;ENST00000546299	T;T;T;T;T	0.12879	2.64;2.64;2.64;2.64;2.64	4.65	3.76	0.43208	DENN (3);	0.000000	0.64402	D	0.000001	T	0.36991	0.0987	M	0.77486	2.375	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.80764	0.954;0.977;0.994;0.987;0.977	T	0.29336	-1.0015	10	0.66056	D	0.02	-26.2133	13.2464	0.60026	0.0774:0.0:0.9226:0.0	.	340;227;327;305;340	Q6ZUT9-2;Q6ZUT9-3;Q6ZUT9-4;Q6ZUT9;G3V1S3	.;.;.;DEN5B_HUMAN;.	C	305;340;340;327;257	ENSP00000373734:R305C;ENSP00000306482:R340C;ENSP00000444889:R340C;ENSP00000346238:R327C;ENSP00000442938:R257C	ENSP00000306482:R340C	R	-	1	0	DENND5B	31504574	0.992000	0.36948	0.945000	0.38365	0.982000	0.71751	1.705000	0.37867	1.313000	0.45069	0.655000	0.94253	CGC		0.393	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973		7	28	0	0	0	0	7	28				
IKBIP	121457	broad.mit.edu	37	12	99007411	99007411	+	Silent	SNP	C	C	T	rs201283576	byFrequency	TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr12:99007411C>T	ENST00000342502.2	-	3	1416	c.1005G>A	c.(1003-1005)gaG>gaA	p.E335E	IKBIP_ENST00000420861.1_Silent_p.E229E|IKBIP_ENST00000393042.3_3'UTR	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein	335					response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TATCCTTAATCTCAGCTTGGA	0.308																																						uc001tfv.2		NA																	0					0						c.(1003-1005)GAG>GAA		IKK interacting protein isoform 2							52.0	58.0	56.0					12																	99007411		2199	4297	6496	SO:0001819	synonymous_variant	121457				induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding	g.chr12:99007411C>T	AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"""I kappa B kinase interacting protein"""	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.1005G>A	12.37:g.99007411C>T						IKBIP_uc001tfw.2_3'UTR	p.E335E	NM_201612	NP_963906	Q70UQ0	IKIP_HUMAN			3	1115	-			335					Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Silent	SNP	ENST00000342502.2	37	c.1005G>A	CCDS9067.1																																																																																				0.308	IKBIP-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000408003.2	NM_153687		10	56	0	0	0	0	10	56				
APPL2	55198	broad.mit.edu	37	12	105597508	105597508	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr12:105597508A>G	ENST00000258530.3	-	9	902	c.677T>C	c.(676-678)tTa>tCa	p.L226S	APPL2_ENST00000549573.1_5'UTR|APPL2_ENST00000539978.2_Missense_Mutation_p.L183S|APPL2_ENST00000551662.1_Missense_Mutation_p.L232S	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q06481	APLP2_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	0	Asp/Glu-rich (highly acidic).|Poly-Glu.			Missing (in Ref. 4; BAG54641). {ECO:0000305}.	cellular copper ion homeostasis (GO:0006878)|cholesterol metabolic process (GO:0008203)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|midbrain development (GO:0030901)|neuromuscular process controlling balance (GO:0050885)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of protein binding (GO:0043393)|suckling behavior (GO:0001967)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|serine-type endopeptidase inhibitor activity (GO:0004867)|transition metal ion binding (GO:0046914)	p.L226S(1)		breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						AACGGAGGATAAAAAGCTGTC	0.433																																						uc001tlf.1		NA																	1	Substitution - Missense(1)	p.L226S(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)	1						c.(676-678)TTA>TCA		adaptor protein, phosphotyrosine interaction, PH							177.0	176.0	176.0					12																	105597508		2203	4300	6503	SO:0001583	missense	55198				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding	g.chr12:105597508A>G	AY113704	CCDS9101.1, CCDS58275.1, CCDS58276.1	12q23.3	2014-08-12			ENSG00000136044	ENSG00000136044		"""Pleckstrin homology (PH) domain containing"""	18242	protein-coding gene	gene with protein product		606231				11431708, 17030088	Standard	NM_001251904		Approved	FLJ10659, DIP13B	uc010swu.1	Q8NEU8	OTTHUMG00000169853	ENST00000258530.3:c.677T>C	12.37:g.105597508A>G	ENSP00000258530:p.Leu226Ser					APPL2_uc010swt.1_Missense_Mutation_p.L183S|APPL2_uc001tlg.1_5'UTR|APPL2_uc010swu.1_Missense_Mutation_p.L232S|APPL2_uc009zuq.2_Missense_Mutation_p.L183S	p.L226S	NM_018171	NP_060641	Q8NEU8	DP13B_HUMAN			9	895	-			226			Required for RAB5A binding (By similarity).		B3KXX9|H7BXI4|Q13861|Q14594|Q14662|Q71U10|Q7M4L3|Q9BT36	Missense_Mutation	SNP	ENST00000258530.3	37	c.677T>C	CCDS9101.1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.985373	0.74474	.	.	ENSG00000136044	ENST00000258530;ENST00000539978;ENST00000551662	T;T;T	0.05925	3.37;3.37;3.37	5.56	5.56	0.83823	.	0.072732	0.53938	D	0.000043	T	0.22399	0.0540	M	0.72894	2.215	0.48571	D	0.999679	D;D;D	0.76494	0.999;0.977;0.996	D;P;P	0.65233	0.933;0.746;0.798	T	0.00281	-1.1851	10	0.66056	D	0.02	-12.1238	14.2981	0.66329	1.0:0.0:0.0:0.0	.	232;183;226	F8W1P5;B7Z1Q8;Q8NEU8	.;.;DP13B_HUMAN	S	226;183;232	ENSP00000258530:L226S;ENSP00000444472:L183S;ENSP00000446917:L232S	ENSP00000258530:L226S	L	-	2	0	APPL2	104121638	1.000000	0.71417	0.011000	0.14972	0.694000	0.40290	8.542000	0.90647	2.118000	0.64928	0.533000	0.62120	TTA		0.433	APPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406238.3	NM_018171		43	170	0	0	0	0	43	170				
ACAD10	80724	broad.mit.edu	37	12	112167625	112167625	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr12:112167625G>T	ENST00000313698.4	+	10	1414	c.1259G>T	c.(1258-1260)cGc>cTc	p.R420L	ACAD10_ENST00000549590.1_Missense_Mutation_p.R420L|ACAD10_ENST00000392636.2_Missense_Mutation_p.R22L|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000455480.2_Missense_Mutation_p.R451L	NM_025247.5	NP_079523.3	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	420						mitochondrion (GO:0005739)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|hydrolase activity (GO:0016787)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						TATATTCCACGCCAGGTACGA	0.507																																						uc001tsq.2		NA																	0				ovary(2)	2						c.(1258-1260)CGC>CTC		acyl-Coenzyme A dehydrogenase family, member 10							79.0	76.0	77.0					12																	112167625		2203	4300	6503	SO:0001583	missense	80724						acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	g.chr12:112167625G>T	AY323912	CCDS31903.1, CCDS44973.1	12q24.12	2012-10-02	2010-04-30		ENSG00000111271	ENSG00000111271			21597	protein-coding gene	gene with protein product		611181	"""acyl-Coenzyme A dehydrogenase family, member 10"""			15560374	Standard	NM_025247		Approved	MGC5601	uc009zvx.3	Q6JQN1	OTTHUMG00000169602	ENST00000313698.4:c.1259G>T	12.37:g.112167625G>T	ENSP00000325137:p.Arg420Leu					ACAD10_uc001tsp.2_Missense_Mutation_p.R420L|ACAD10_uc009zvx.2_Missense_Mutation_p.R451L|ACAD10_uc001tss.1_RNA	p.R420L	NM_025247	NP_079523	Q6JQN1	ACD10_HUMAN			10	1459	+			420					G3XAJ0|Q8N828|Q8NAP2|Q96BX5	Missense_Mutation	SNP	ENST00000313698.4	37	c.1259G>T	CCDS31903.1	.	.	.	.	.	.	.	.	.	.	G	14.04	2.417382	0.42918	.	.	ENSG00000111271	ENST00000392636;ENST00000413681;ENST00000549590;ENST00000455480;ENST00000313698	T;T;T;T	0.34472	1.36;1.36;1.36;1.36	5.37	3.54	0.40534	Aminoglycoside phosphotransferase (1);Protein kinase-like domain (1);	0.234510	0.40908	D	0.000996	T	0.66733	0.2819	H	0.95470	3.675	0.20307	N	0.999919	D;P;B	0.67145	0.996;0.715;0.242	D;B;B	0.70935	0.971;0.442;0.059	T	0.62511	-0.6839	10	0.62326	D	0.03	.	9.8099	0.40817	0.2231:0.0:0.7769:0.0	.	451;420;420	G3XAJ0;Q6JQN1;Q6JQN1-2	.;ACD10_HUMAN;.	L	22;420;420;451;420	ENSP00000376411:R22L;ENSP00000446959:R420L;ENSP00000389813:R451L;ENSP00000325137:R420L	ENSP00000325137:R420L	R	+	2	0	ACAD10	110652008	0.081000	0.21417	0.129000	0.21949	0.132000	0.20833	1.210000	0.32370	1.257000	0.44085	0.655000	0.94253	CGC		0.507	ACAD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368307.1	NM_025247		13	38	1	0	6.72e-11	8.02e-11	13	38				
DDX54	79039	broad.mit.edu	37	12	113599136	113599136	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr12:113599136T>G	ENST00000306014.5	-	19	2379	c.2352A>C	c.(2350-2352)gaA>gaC	p.E784D	DDX54_ENST00000549271.1_5'UTR|DDX54_ENST00000314045.7_Missense_Mutation_p.E784D	NM_024072.3	NP_076977.3	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	784					ATP catabolic process (GO:0006200)|intracellular estrogen receptor signaling pathway (GO:0030520)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ATGCCCCTTCTTCGTCCGAGT	0.577																																						uc001tup.2		NA																	0				skin(2)|central_nervous_system(1)	3						c.(2350-2352)GAA>GAC		DEAD (Asp-Glu-Ala-Asp) box polypeptide 54							225.0	172.0	190.0					12																	113599136		2203	4300	6503	SO:0001583	missense	79039				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	g.chr12:113599136T>G	AF144056	CCDS31907.1, CCDS44984.1	12q24.11	2006-01-30				ENSG00000123064		"""DEAD-boxes"""	20084	protein-coding gene	gene with protein product		611665				12466272	Standard	NM_001111322		Approved	MGC2835, APR-5, DP97	uc001tuq.4	Q8TDD1	OTTHUMG00000169676	ENST00000306014.5:c.2352A>C	12.37:g.113599136T>G	ENSP00000304072:p.Glu784Asp					DDX54_uc001tuq.3_Missense_Mutation_p.E784D	p.E784D	NM_024072	NP_076977	Q8TDD1	DDX54_HUMAN			19	2380	-			784					Q86YT8|Q9BRZ1	Missense_Mutation	SNP	ENST00000306014.5	37	c.2352A>C	CCDS31907.1	.	.	.	.	.	.	.	.	.	.	T	9.763	1.170567	0.21621	.	.	ENSG00000123064	ENST00000314045;ENST00000306014	T;T	0.11277	2.82;2.79	4.44	-8.89	0.00785	DBP10CT (1);	0.421325	0.22768	N	0.055871	T	0.08179	0.0204	M	0.61703	1.905	0.34625	D	0.719039	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.06698	-1.0812	10	0.36615	T	0.2	.	8.2549	0.31748	0.0:0.179:0.3257:0.4953	.	784;784	Q8TDD1-2;Q8TDD1	.;DDX54_HUMAN	D	784	ENSP00000323858:E784D;ENSP00000304072:E784D	ENSP00000304072:E784D	E	-	3	2	DDX54	112083519	0.003000	0.15002	0.640000	0.29408	0.248000	0.25809	-1.573000	0.02134	-2.138000	0.00808	-0.736000	0.03550	GAA		0.577	DDX54-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405435.1	NM_024072		10	51	0	0	0	0	10	51				
KSR2	283455	broad.mit.edu	37	12	117914339	117914339	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr12:117914339G>A	ENST00000339824.5	-	17	3239	c.2512C>T	c.(2512-2514)Cgc>Tgc	p.R838C	KSR2_ENST00000302438.5_3'UTR|KSR2_ENST00000425217.1_Missense_Mutation_p.R809C			Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	838	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GACAGCTGGCGGATGATCTCT	0.582																																						uc001two.2		NA																	0				lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1)	15						c.(2425-2427)CGC>TGC		kinase suppressor of ras 2							61.0	74.0	69.0					12																	117914339		2071	4213	6284	SO:0001583	missense	283455				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr12:117914339G>A	AY345972	CCDS61250.1	12q24.22-q24.23	2014-08-12			ENSG00000171435	ENSG00000171435			18610	protein-coding gene	gene with protein product		610737				12471243	Standard	NM_173598		Approved	FLJ25965	uc001two.2	Q6VAB6	OTTHUMG00000169020	ENST00000339824.5:c.2512C>T	12.37:g.117914339G>A	ENSP00000339952:p.Arg838Cys						p.R809C	NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN			17	2480	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		838			Protein kinase.		A0PJT2|Q3B828|Q8N775	Missense_Mutation	SNP	ENST00000339824.5	37	c.2425C>T		.	.	.	.	.	.	.	.	.	.	G	15.89	2.965842	0.53507	.	.	ENSG00000171435	ENST00000425217;ENST00000339824	D;D	0.83419	-1.72;-1.72	5.69	4.81	0.61882	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.057415	0.64402	D	0.000001	D	0.85217	0.5646	M	0.89904	3.07	0.58432	D	0.999999	B	0.19935	0.04	B	0.19391	0.025	D	0.83736	0.0201	10	0.66056	D	0.02	.	10.7666	0.46297	0.1442:0.0:0.8558:0.0	.	838	Q6VAB6	KSR2_HUMAN	C	809;838	ENSP00000389715:R809C;ENSP00000339952:R838C	ENSP00000339952:R838C	R	-	1	0	KSR2	116398722	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	8.061000	0.89467	1.407000	0.46875	-0.142000	0.14014	CGC		0.582	KSR2-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401987.2	NM_173598		7	7	0	0	0	0	7	7				
TDRD3	81550	broad.mit.edu	37	13	61084005	61084005	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr13:61084005C>G	ENST00000196169.3	+	9	1476	c.688C>G	c.(688-690)Ctt>Gtt	p.L230V	TDRD3_ENST00000535286.1_Missense_Mutation_p.L323V|TDRD3_ENST00000377881.2_Missense_Mutation_p.L230V|TDRD3_ENST00000377894.2_Missense_Mutation_p.L230V	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	230	UBA. {ECO:0000255|PROSITE- ProRule:PRU00212}.				chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)	p.L230V(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		ACTGAACGTACTTCTTACAAG	0.408																																					Colon(36;164 906 35820 50723)	uc001via.2		NA																	1	Substitution - Missense(1)	p.L230V(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)|skin(1)	2						c.(688-690)CTT>GTT		tudor domain containing 3 isoform 2							125.0	119.0	121.0					13																	61084005		2203	4300	6503	SO:0001583	missense	81550				chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity	g.chr13:61084005C>G	AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.688C>G	13.37:g.61084005C>G	ENSP00000196169:p.Leu230Val					TDRD3_uc010aef.2_Missense_Mutation_p.L55V|TDRD3_uc001vhz.3_Missense_Mutation_p.L230V|TDRD3_uc010aeg.2_Missense_Mutation_p.L323V|TDRD3_uc001vib.3_Missense_Mutation_p.L229V	p.L230V	NM_030794	NP_110421	Q9H7E2	TDRD3_HUMAN		GBM - Glioblastoma multiforme(99;0.000291)	9	1476	+		Prostate(109;0.173)|Breast(118;0.174)	230			UBA.		B2MWP9|Q53XA6|Q6P992	Missense_Mutation	SNP	ENST00000196169.3	37	c.688C>G	CCDS9441.1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.394049	0.83011	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.99	5.99	0.97316	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (2);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.80138	0.4568	M	0.72353	2.195	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.91635	0.999;0.996;0.999	T	0.78932	-0.2009	10	0.54805	T	0.06	-18.2117	20.4777	0.99188	0.0:1.0:0.0:0.0	.	323;229;230	Q9H7E2-3;Q9H7E2-2;Q9H7E2	.;.;TDRD3_HUMAN	V	230;230;230;323	ENSP00000196169:L230V;ENSP00000367113:L230V;ENSP00000367126:L230V;ENSP00000440190:L323V	ENSP00000196169:L230V	L	+	1	0	TDRD3	59982006	1.000000	0.71417	0.991000	0.47740	0.681000	0.39784	7.270000	0.78493	2.840000	0.97914	0.655000	0.94253	CTT		0.408	TDRD3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045175.2	NM_030794		18	76	0	0	0	0	18	76				
ADAM21	8747	broad.mit.edu	37	14	70924430	70924430	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr14:70924430C>T	ENST00000603540.1	+	2	472	c.214C>T	c.(214-216)Cac>Tac	p.H72Y	ADAM21_ENST00000267499.3_Missense_Mutation_p.H72Y|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	72					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GGGCCAGAAACACGTTGTTCA	0.527																																						uc001xmd.2		NA																	0				pancreas(1)|skin(1)	2						c.(214-216)CAC>TAC		ADAM metallopeptidase domain 21 preproprotein							122.0	129.0	127.0					14																	70924430		2203	4300	6503	SO:0001583	missense	8747				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70924430C>T	AF029900	CCDS9804.1	14q24.1	2008-09-05	2005-08-18		ENSG00000139985	ENSG00000139985		"""ADAM metallopeptidase domain containing"""	200	protein-coding gene	gene with protein product		603713	"""a disintegrin and metalloproteinase domain 21"""			9469942	Standard	NM_003813		Approved	ADAM31	uc001xmd.3	Q9UKJ8		ENST00000603540.1:c.214C>T	14.37:g.70924430C>T	ENSP00000474385:p.His72Tyr						p.H72Y	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN		all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)	1	214	+			72					O43507|Q2VPC6|Q32MR0	Missense_Mutation	SNP	ENST00000603540.1	37	c.214C>T	CCDS9804.1	.	.	.	.	.	.	.	.	.	.	C	0.118	-1.129876	0.01756	.	.	ENSG00000139985	ENST00000267499	T	0.05717	3.4	3.56	2.09	0.27110	Peptidase M12B, propeptide (1);	0.312688	0.22491	U	0.059380	T	0.05547	0.0146	L	0.39085	1.19	0.09310	N	1	B	0.14012	0.009	B	0.25405	0.06	T	0.34900	-0.9810	10	0.32370	T	0.25	.	6.9846	0.24721	0.0:0.7081:0.0:0.2919	.	72	Q9UKJ8	ADA21_HUMAN	Y	72	ENSP00000267499:H72Y	ENSP00000267499:H72Y	H	+	1	0	ADAM21	69994183	0.000000	0.05858	0.005000	0.12908	0.002000	0.02628	0.489000	0.22387	0.831000	0.34780	0.563000	0.77884	CAC		0.527	ADAM21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413008.3			15	109	0	0	0	0	15	109				
LGMN	5641	broad.mit.edu	37	14	93172970	93172970	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr14:93172970C>T	ENST00000393218.2	-	13	1386	c.1049G>A	c.(1048-1050)cGt>cAt	p.R350H	LGMN_ENST00000557434.1_Intron|LGMN_ENST00000334869.4_Missense_Mutation_p.R350H|LGMN_ENST00000555699.1_Intron	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	350					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|innate immune response (GO:0045087)|negative regulation of ERBB signaling pathway (GO:1901185)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of neuron apoptotic process (GO:0043524)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|receptor catabolic process (GO:0032801)|renal system process (GO:0003014)|response to acidic pH (GO:0010447)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|toll-like receptor signaling pathway (GO:0002224)|vitamin D metabolic process (GO:0042359)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	cysteine-type endopeptidase activity (GO:0004197)|peptidase activity (GO:0008233)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		GACGATCTTACGCACTGACTT	0.637																																						uc001yav.2		NA																	0				skin(1)	1						c.(1048-1050)CGT>CAT		legumain preproprotein							56.0	51.0	53.0					14																	93172970		2203	4300	6503	SO:0001583	missense	5641				hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity	g.chr14:93172970C>T	D55696	CCDS9904.1	14q32.12	2011-04-08		2002-01-18	ENSG00000100600	ENSG00000100600			9472	protein-coding gene	gene with protein product		602620	"""protease, cysteine, 1 (legumain)"""	PRSC1		8893817, 9065484	Standard	NM_001008530		Approved	LGMN1	uc001yaw.3	Q99538		ENST00000393218.2:c.1049G>A	14.37:g.93172970C>T	ENSP00000376911:p.Arg350His					LGMN_uc001yat.2_Intron|LGMN_uc001yau.2_Intron|LGMN_uc001yaw.2_Missense_Mutation_p.R350H|LGMN_uc010aul.2_Missense_Mutation_p.R231H|LGMN_uc001yax.2_Intron|LGMN_uc001yay.2_Intron	p.R350H	NM_001008530	NP_001008530	Q99538	LGMN_HUMAN		COAD - Colon adenocarcinoma(157;0.224)	13	1375	-		all_cancers(154;0.0706)	350					O00123|Q86TV2|Q86TV3|Q9BTY1	Missense_Mutation	SNP	ENST00000393218.2	37	c.1049G>A	CCDS9904.1	.	.	.	.	.	.	.	.	.	.	C	10.14	1.267966	0.23136	.	.	ENSG00000100600	ENST00000334869;ENST00000393218;ENST00000539531;ENST00000535855	T;T	0.44482	0.92;0.92	5.42	-10.8	0.00216	.	1.546540	0.03183	N	0.172337	T	0.40247	0.1109	L	0.45051	1.395	0.09310	N	1	B;B	0.16166	0.016;0.016	B;B	0.12156	0.007;0.007	T	0.55503	-0.8131	10	0.42905	T	0.14	-0.081	24.4101	0.99990	0.0:0.2107:0.0:0.7893	.	350;350	A8K669;Q99538	.;LGMN_HUMAN	H	350;350;327;315	ENSP00000334052:R350H;ENSP00000376911:R350H	ENSP00000334052:R350H	R	-	2	0	LGMN	92242723	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.045000	0.03528	-3.365000	0.00178	-1.605000	0.00808	CGT		0.637	LGMN-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412288.1	NM_005606		13	32	0	0	0	0	13	32				
PPP4R4	57718	broad.mit.edu	37	14	94674875	94674875	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr14:94674875C>T	ENST00000304338.3	+	3	420	c.266C>T	c.(265-267)aCg>aTg	p.T89M	PPP4R4_ENST00000555690.1_3'UTR|PPP4R4_ENST00000328839.3_Missense_Mutation_p.T89M	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	89					negative regulation of phosphoprotein phosphatase activity (GO:0032515)|regulation of protein serine/threonine phosphatase activity (GO:0080163)	cytoplasm (GO:0005737)|protein serine/threonine phosphatase complex (GO:0008287)	protein phosphatase regulator activity (GO:0019888)	p.T89M(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CCCACTGAGACGCTTCGGAGA	0.388																																						uc001ycs.1		NA																	1	Substitution - Missense(1)	p.T89M(1)	upper_aerodigestive_tract(1)	skin(3)|upper_aerodigestive_tract(1)	4						c.(265-267)ACG>ATG		HEAT-like repeat-containing protein isoform 1							76.0	74.0	75.0					14																	94674875		2203	4300	6503	SO:0001583	missense	57718					cytoplasm|protein serine/threonine phosphatase complex	protein binding	g.chr14:94674875C>T	AB046842, BC068491	CCDS9921.1, CCDS9922.1	14q32.2	2014-07-18	2008-09-16	2008-09-16	ENSG00000119698	ENSG00000119698		"""Serine/threonine phosphatases / Protein phosphatase 4, regulatory subunits"""	23788	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 14"""		"""KIAA1622"""	KIAA1622		18715871	Standard	NM_020958		Approved	PP4R4, CFAP14	uc001ycs.1	Q6NUP7		ENST00000304338.3:c.266C>T	14.37:g.94674875C>T	ENSP00000305924:p.Thr89Met					PPP4R4_uc001ycr.2_Missense_Mutation_p.T89M	p.T89M	NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN			3	420	+			89					Q9BUF8|Q9HCF0	Missense_Mutation	SNP	ENST00000304338.3	37	c.266C>T	CCDS9921.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.238065	0.79800	.	.	ENSG00000119698	ENST00000556884;ENST00000304338;ENST00000328839;ENST00000553661;ENST00000556470	T;T	0.33865	1.39;1.44	5.41	5.41	0.78517	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.59715	0.2214	M	0.67953	2.075	0.44807	D	0.997817	D;D	0.89917	0.999;1.0	D;D	0.85130	0.967;0.997	T	0.61983	-0.6950	10	0.72032	D	0.01	-13.2975	16.6795	0.85288	0.0:1.0:0.0:0.0	.	89;89	Q6NUP7;Q6NUP7-2	PP4R4_HUMAN;.	M	8;89;89;8;8	ENSP00000305924:T89M;ENSP00000451556:T8M	ENSP00000305924:T89M	T	+	2	0	PPP4R4	93744628	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	6.231000	0.72307	2.548000	0.85928	0.491000	0.48974	ACG		0.388	PPP4R4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413056.1	NM_058237		4	10	0	0	0	0	4	10				
ATP10A	57194	broad.mit.edu	37	15	25961901	25961901	+	Silent	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr15:25961901C>T	ENST00000356865.6	-	9	1863	c.1752G>A	c.(1750-1752)acG>acA	p.T584T		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	584					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GATCCGGGGACGTGACGACGA	0.592																																						uc010ayu.2		NA																	0				pancreas(2)|ovary(1)|breast(1)|liver(1)	5						c.(1750-1752)ACG>ACA		ATPase, class V, type 10A							144.0	130.0	135.0					15																	25961901		2203	4300	6503	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25961901C>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1752G>A	15.37:g.25961901C>T							p.T584T	NM_024490	NP_077816	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	9	1858	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	584			Cytoplasmic (Potential).		Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.1752G>A	CCDS32178.1																																																																																				0.592	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		13	86	0	0	0	0	13	86				
ISLR2	57611	broad.mit.edu	37	15	74425583	74425583	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr15:74425583C>T	ENST00000361742.3	+	4	1257	c.488C>T	c.(487-489)gCg>gTg	p.A163V	ISLR2_ENST00000565540.1_Missense_Mutation_p.A163V|ISLR2_ENST00000419208.1_Missense_Mutation_p.A163V|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000453268.2_Missense_Mutation_p.A163V|ISLR2_ENST00000565159.1_Missense_Mutation_p.A163V|ISLR2_ENST00000445793.1_Missense_Mutation_p.A163V|ISLR2_ENST00000435464.1_Missense_Mutation_p.A163V	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	163					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CGTACGCTGGCGCCTGGCACC	0.652																																						uc002axd.2		NA																	0					0						c.(487-489)GCG>GTG		immunoglobulin superfamily containing							55.0	60.0	59.0					15																	74425583		2198	4297	6495	SO:0001583	missense	57611				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane		g.chr15:74425583C>T		CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.488C>T	15.37:g.74425583C>T	ENSP00000355402:p.Ala163Val					ISLR2_uc002axe.2_Missense_Mutation_p.A163V|ISLR2_uc010bjg.2_Missense_Mutation_p.A163V|ISLR2_uc010bjf.2_Missense_Mutation_p.A163V	p.A163V	NM_001130136	NP_001123608	Q6UXK2	ISLR2_HUMAN			4	1257	+			163			Extracellular (Potential).|LRR 5.		A8K352|Q9P263	Missense_Mutation	SNP	ENST00000361742.3	37	c.488C>T	CCDS10259.1	.	.	.	.	.	.	.	.	.	.	C	0.598	-0.830377	0.02734	.	.	ENSG00000167178	ENST00000445793;ENST00000361742;ENST00000435464;ENST00000453268;ENST00000419208	T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63	4.46	1.19	0.21007	.	0.257041	0.31450	U	0.007628	T	0.32645	0.0836	L	0.28192	0.835	0.19575	N	0.999967	B	0.26081	0.141	B	0.25884	0.064	T	0.14172	-1.0482	10	0.27785	T	0.31	.	13.2296	0.59936	0.6549:0.3451:0.0:0.0	.	163	Q6UXK2	ISLR2_HUMAN	V	163	ENSP00000403244:A163V;ENSP00000355402:A163V;ENSP00000411443:A163V;ENSP00000411834:A163V;ENSP00000408872:A163V	ENSP00000355402:A163V	A	+	2	0	ISLR2	72212636	0.881000	0.30235	0.028000	0.17463	0.054000	0.15201	0.970000	0.29383	-0.077000	0.12752	-0.723000	0.03601	GCG		0.652	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269046.1	NM_020851		22	95	0	0	0	0	22	95				
AP3B2	8120	broad.mit.edu	37	15	83331629	83331629	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr15:83331629G>A	ENST00000261722.3	-	22	2800	c.2593C>T	c.(2593-2595)Cgg>Tgg	p.R865W	AP3B2_ENST00000535348.1_Missense_Mutation_p.R833W|AP3B2_ENST00000535359.1_Missense_Mutation_p.R884W|RP11-752G15.3_ENST00000560650.1_RNA	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	865					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CCAGCTACCCGGTGCAGCAGC	0.607																																						uc010uoh.1		NA																	0				ovary(3)|breast(1)|pancreas(1)	5						c.(2593-2595)CGG>TGG		adaptor-related protein complex 3, beta 2							25.0	31.0	29.0					15																	83331629		2042	4198	6240	SO:0001583	missense	8120				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport	clathrin coated vesicle membrane|COPI-coated vesicle|membrane coat	binding|protein transporter activity	g.chr15:83331629G>A	U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.2593C>T	15.37:g.83331629G>A	ENSP00000261722:p.Arg865Trp					AP3B2_uc010uoi.1_Missense_Mutation_p.R884W|AP3B2_uc010uoj.1_Missense_Mutation_p.R833W|AP3B2_uc010bmp.2_5'Flank|AP3B2_uc010uog.1_Missense_Mutation_p.R501W	p.R865W	NM_004644	NP_004635	Q13367	AP3B2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.229)		22	2770	-			865					A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	ENST00000261722.3	37	c.2593C>T	CCDS45331.1	.	.	.	.	.	.	.	.	.	.	G	34	5.409619	0.96072	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.30448	1.53;1.53;1.53	6.04	5.12	0.69794	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);Clathrin adaptor, gamma-adaptin, appendage (1);	0.054684	0.85682	D	0.000000	T	0.57814	0.2079	M	0.77820	2.39	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;P	0.74023	0.982;0.936;0.869	T	0.64241	-0.6454	10	0.72032	D	0.01	-15.1769	16.6884	0.85315	0.0:0.0:0.8692:0.1307	.	833;884;865	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	W	865;833;884	ENSP00000261722:R865W;ENSP00000438721:R833W;ENSP00000440984:R884W	ENSP00000261722:R865W	R	-	1	2	AP3B2	81128684	1.000000	0.71417	0.972000	0.41901	0.985000	0.73830	7.676000	0.84012	1.542000	0.49330	0.563000	0.77884	CGG		0.607	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397463.1			5	24	0	0	0	0	5	24				
GRIN2A	2903	broad.mit.edu	37	16	10032166	10032166	+	Silent	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr16:10032166C>T	ENST00000396573.2	-	4	966	c.657G>A	c.(655-657)ctG>ctA	p.L219L	GRIN2A_ENST00000404927.2_Silent_p.L219L|GRIN2A_ENST00000535259.1_Silent_p.L62L|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000330684.3_Silent_p.L219L|GRIN2A_ENST00000562109.1_Silent_p.L219L|GRIN2A_ENST00000396575.2_Silent_p.L219L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	219					directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	GGATCTTCTTCAGCTGGACTT	0.507																																						uc002czo.3		NA																	0				skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1)	45						c.(655-657)CTG>CTA		N-methyl-D-aspartate receptor subunit 2A isoform	Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						114.0	102.0	106.0					16																	10032166		2197	4300	6497	SO:0001819	synonymous_variant	2903				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr16:10032166C>T		CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.657G>A	16.37:g.10032166C>T						GRIN2A_uc010uym.1_Silent_p.L219L|GRIN2A_uc010uyn.1_Silent_p.L62L|GRIN2A_uc002czr.3_Silent_p.L219L	p.L219L	NM_001134407	NP_001127879	Q12879	NMDE1_HUMAN			3	1205	-			219			Extracellular (Potential).		O00669|Q17RZ6	Silent	SNP	ENST00000396573.2	37	c.657G>A	CCDS10539.1																																																																																				0.507	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251930.3			8	49	0	0	0	0	8	49				
PDILT	204474	broad.mit.edu	37	16	20410538	20410538	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr16:20410538A>G	ENST00000302451.4	-	2	333	c.85T>C	c.(85-87)Tcc>Ccc	p.S29P		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	29					cell migration (GO:0016477)|cell redox homeostasis (GO:0045454)|multicellular organismal development (GO:0007275)|protein folding (GO:0006457)|spermatid development (GO:0007286)	endoplasmic reticulum (GO:0005783)	protein disulfide isomerase activity (GO:0003756)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TGGATGCTGGAAACACCGGCG	0.602																																						uc002dhc.1		NA																	0				large_intestine(1)	1						c.(85-87)TCC>CCC		protein disulfide isomerase-like, testis							151.0	138.0	143.0					16																	20410538		2203	4300	6503	SO:0001583	missense	204474				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	g.chr16:20410538A>G		CCDS10584.1	16p12.3	2011-11-10	2009-02-23		ENSG00000169340	ENSG00000169340		"""Protein disulfide isomerases"""	27338	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 7"", ""protein disulfide isomerase-like protein of the testis"""					15475357	Standard	NM_174924		Approved	PDIA7	uc002dhc.1	Q8N807	OTTHUMG00000131487	ENST00000302451.4:c.85T>C	16.37:g.20410538A>G	ENSP00000305465:p.Ser29Pro						p.S29P	NM_174924	NP_777584	Q8N807	PDILT_HUMAN			2	308	-			29					Q8IVQ5	Missense_Mutation	SNP	ENST00000302451.4	37	c.85T>C	CCDS10584.1	.	.	.	.	.	.	.	.	.	.	A	8.278	0.814827	0.16607	.	.	ENSG00000169340	ENST00000302451	T	0.03272	3.99	4.21	-3.69	0.04450	.	1.237640	0.05626	N	0.580818	T	0.01835	0.0058	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46679	-0.9174	10	0.52906	T	0.07	.	0.76	0.01005	0.1982:0.1904:0.3561:0.2553	.	29	Q8N807	PDILT_HUMAN	P	29	ENSP00000305465:S29P	ENSP00000305465:S29P	S	-	1	0	PDILT	20318039	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.081000	0.11321	-0.696000	0.05098	-0.462000	0.05337	TCC		0.602	PDILT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254332.1	NM_174924		25	109	0	0	0	0	25	109				
C16orf78	123970	broad.mit.edu	37	16	49430551	49430551	+	Silent	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr16:49430551C>T	ENST00000299191.3	+	4	729	c.612C>T	c.(610-612)acC>acT	p.T204T		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	204						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						AGATGGAAACCATGAGGATGT	0.542																																						uc002efr.2		NA																	0				central_nervous_system(1)	1						c.(610-612)ACC>ACT		hypothetical protein LOC123970							54.0	50.0	51.0					16																	49430551		2199	4300	6499	SO:0001819	synonymous_variant	123970							g.chr16:49430551C>T	BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.612C>T	16.37:g.49430551C>T							p.T204T	NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN			4	655	+			204						Silent	SNP	ENST00000299191.3	37	c.612C>T	CCDS10738.1																																																																																				0.542	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256846.1	NM_144602		5	28	0	0	0	0	5	28				
TP53	7157	broad.mit.edu	37	17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	rs28934576		TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr17:7577120C>T	ENST00000269305.4	-	8	1007	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000420246.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000574684.1_5'Flank|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		9	25	0	0	0	0	9	25				
DNAH2	146754	broad.mit.edu	37	17	7673916	7673916	+	Silent	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr17:7673916C>T	ENST00000572933.1	+	26	5600	c.4140C>T	c.(4138-4140)ctC>ctT	p.L1380L	DNAH2_ENST00000389173.2_Silent_p.L1380L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1380	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGACTCAGCTCGACATAGTAC	0.542																																						uc002giu.1		NA																	0				ovary(6)|skin(6)|central_nervous_system(1)	13						c.(4138-4140)CTC>CTT		dynein heavy chain domain 3							85.0	82.0	83.0					17																	7673916		2203	4300	6503	SO:0001819	synonymous_variant	146754				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:7673916C>T	U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.4140C>T	17.37:g.7673916C>T							p.L1380L	NM_020877	NP_065928	Q9P225	DYH2_HUMAN			25	4154	+		all_cancers(10;4.66e-07)|Prostate(122;0.081)	1380			Stem (By similarity).		A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	ENST00000572933.1	37	c.4140C>T	CCDS32551.1																																																																																				0.542	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440241.1	NM_020877		13	53	0	0	0	0	13	53				
FAM134C	162427	broad.mit.edu	37	17	40735595	40735595	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr17:40735595C>T	ENST00000309428.5	-	7	790	c.731G>A	c.(730-732)cGc>cAc	p.R244H	FAM134C_ENST00000585894.1_Missense_Mutation_p.R147H|FAM134C_ENST00000543197.1_Missense_Mutation_p.R49H	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	244						integral component of membrane (GO:0016021)		p.R244H(1)		endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		AGCTCTGCGGCGTACTGTGGG	0.498																																						uc002ial.2		NA																	1	Substitution - Missense(1)	p.R244H(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(730-732)CGC>CAC		hypothetical protein LOC162427							164.0	122.0	137.0					17																	40735595		2203	4300	6503	SO:0001583	missense	162427					integral to membrane		g.chr17:40735595C>T	BC049370	CCDS11432.1	17q21.2	2007-05-01							27258	protein-coding gene	gene with protein product						12477932	Standard	NM_178126		Approved	DKFZp686B1036, FLJ33806	uc002ial.2	Q86VR2		ENST00000309428.5:c.731G>A	17.37:g.40735595C>T	ENSP00000309432:p.Arg244His					FAM134C_uc010wgq.1_Missense_Mutation_p.R44H|FAM134C_uc002iam.1_Missense_Mutation_p.R44H|FAM134C_uc010cyk.1_Missense_Mutation_p.R147H	p.R244H	NM_178126	NP_835227	Q86VR2	F134C_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.134)	7	834	-		Breast(137;0.00116)	244					B3KR75	Missense_Mutation	SNP	ENST00000309428.5	37	c.731G>A	CCDS11432.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.672329	0.67928	.	.	ENSG00000141699	ENST00000309428;ENST00000543197	T;T	0.48522	0.81;0.81	5.95	5.95	0.96441	.	0.155751	0.64402	D	0.000013	T	0.36552	0.0971	N	0.17474	0.49	0.48087	D	0.99958	B	0.02656	0.0	B	0.06405	0.002	T	0.07908	-1.0748	10	0.45353	T	0.12	-10.4242	18.5659	0.91116	0.0:1.0:0.0:0.0	.	244	Q86VR2	F134C_HUMAN	H	244;49	ENSP00000309432:R244H;ENSP00000446235:R49H	ENSP00000309432:R244H	R	-	2	0	FAM134C	37989121	0.986000	0.35501	1.000000	0.80357	0.975000	0.68041	1.049000	0.30392	2.825000	0.97269	0.655000	0.94253	CGC		0.498	FAM134C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450536.1	NM_178126		10	27	0	0	0	0	10	27				
CBX4	8535	broad.mit.edu	37	17	77807811	77807811	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr17:77807811C>T	ENST00000269397.4	-	5	1807	c.1630G>A	c.(1630-1632)Gac>Aac	p.D544N		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	544	Interaction with RNF2.				chromatin modification (GO:0016568)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein sumoylation (GO:0016925)|transcription, DNA-templated (GO:0006351)	nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|single-stranded RNA binding (GO:0003727)|SUMO binding (GO:0032183)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GCGGTGACGTCGGTGATAATT	0.627																																						uc002jxe.2		NA																	0				skin(2)	2						c.(1630-1632)GAC>AAC		chromobox homolog 4							56.0	63.0	61.0					17																	77807811		2203	4300	6503	SO:0001583	missense	8535				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity	g.chr17:77807811C>T	AF013956	CCDS32758.1	17q25.3	2010-07-06	2010-06-24		ENSG00000141582	ENSG00000141582			1554	protein-coding gene	gene with protein product	"""NS5ATP1-binding protein 16"", ""Pc class 2 homolog (Drosophila)"""	603079	"""chromobox homolog 4 (Drosophila Pc class)"""			9315667	Standard	NM_003655		Approved	hPC2, PC2, NBP16	uc002jxe.3	O00257	OTTHUMG00000150415	ENST00000269397.4:c.1630G>A	17.37:g.77807811C>T	ENSP00000269397:p.Asp544Asn						p.D544N	NM_003655	NP_003646	O00257	CBX4_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)		5	1793	-			544			Interaction with RNF2.		B1PJR7|Q6TPI8|Q96C04	Missense_Mutation	SNP	ENST00000269397.4	37	c.1630G>A	CCDS32758.1	.	.	.	.	.	.	.	.	.	.	C	25.7	4.663696	0.88251	.	.	ENSG00000141582	ENST00000269397;ENST00000343048	.	.	.	3.16	3.16	0.36331	.	0.399630	0.26293	U	0.025217	T	0.67002	0.2847	L	0.42245	1.32	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.71045	-0.4706	9	0.87932	D	0	-22.1848	13.0469	0.58931	0.0:1.0:0.0:0.0	.	544	O00257	CBX4_HUMAN	N	544;274	.	ENSP00000269397:D544N	D	-	1	0	CBX4	75422406	1.000000	0.71417	1.000000	0.80357	0.928000	0.56348	6.935000	0.75886	1.796000	0.52611	0.299000	0.19835	GAC		0.627	CBX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318007.1	NM_003655		22	65	0	0	0	0	22	65				
ST8SIA5	29906	broad.mit.edu	37	18	44260048	44260048	+	Missense_Mutation	SNP	C	C	T	rs373700133		TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr18:44260048C>T	ENST00000315087.7	-	7	1748	c.1088G>A	c.(1087-1089)cGa>cAa	p.R363Q	ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000536490.1_Missense_Mutation_p.R332Q|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.R399Q	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	363					carbohydrate metabolic process (GO:0005975)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	integral component of Golgi membrane (GO:0030173)	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity (GO:0003828)|sialyltransferase activity (GO:0008373)	p.R363Q(1)		kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GAGGATGCCTCGGCTGTGCAA	0.647																																						uc002lcj.1		NA																	1	Substitution - Missense(1)	p.R363Q(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	3						c.(1087-1089)CGA>CAA		ST8 alpha-N-acetyl-neuraminide		C	GLN/ARG	0,4406		0,0,2203	63.0	66.0	65.0		1088	4.3	0.9	18		65	1,8599	1.2+/-3.3	0,1,4299	no	missense	ST8SIA5	NM_013305.4	43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	363/377	44260048	1,13005	2203	4300	6503	SO:0001583	missense	29906				glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane		g.chr18:44260048C>T	U91641	CCDS11930.1	18q12.3	2013-03-01	2003-01-14	2005-02-07	ENSG00000101638	ENSG00000101638		"""Sialyltransferases"""	17827	protein-coding gene	gene with protein product	"""ST8Sia V"""	607162	"""sialyltransferase 8E (alpha-2, 8-polysialytransferase)"""	SIAT8E		9199191	Standard	XM_005258250		Approved		uc002lcj.1	O15466	OTTHUMG00000132643	ENST00000315087.7:c.1088G>A	18.37:g.44260048C>T	ENSP00000321343:p.Arg363Gln					ST8SIA5_uc002lci.1_Missense_Mutation_p.R210Q|ST8SIA5_uc010xcy.1_Missense_Mutation_p.R399Q|ST8SIA5_uc010xcz.1_Missense_Mutation_p.R332Q	p.R363Q	NM_013305	NP_037437	O15466	SIA8E_HUMAN			7	1656	-			363			Lumenal (Potential).		B7Z1K9|Q6IAW7	Missense_Mutation	SNP	ENST00000315087.7	37	c.1088G>A	CCDS11930.1	.	.	.	.	.	.	.	.	.	.	C	17.24	3.340565	0.60963	0.0	1.16E-4	ENSG00000101638	ENST00000315087;ENST00000538168;ENST00000536490	T;T;T	0.27890	1.64;1.64;1.64	5.21	4.33	0.51752	.	0.062514	0.64402	D	0.000006	T	0.19846	0.0477	N	0.24115	0.695	0.46586	D	0.999118	P;B;D	0.53151	0.89;0.015;0.958	B;B;P	0.48141	0.358;0.021;0.568	T	0.14643	-1.0465	10	0.08837	T	0.75	-7.3732	4.9152	0.13842	0.0:0.6205:0.1931:0.1864	.	332;399;363	F5H8D1;B7Z1K9;O15466	.;.;SIA8E_HUMAN	Q	363;399;332	ENSP00000321343:R363Q;ENSP00000445492:R399Q;ENSP00000443683:R332Q	ENSP00000321343:R363Q	R	-	2	0	ST8SIA5	42514046	1.000000	0.71417	0.949000	0.38748	0.942000	0.58702	4.609000	0.61148	1.304000	0.44892	-0.305000	0.09177	CGA		0.647	ST8SIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255892.1	NM_013305		17	55	0	0	0	0	17	55				
OAZ1	4946	broad.mit.edu	37	19	2271954	2271954	+	Splice_Site	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr19:2271954G>A	ENST00000602676.2	+	4	543		c.e4+1		JSRP1_ENST00000590976.1_5'Flank|OAZ1_ENST00000582888.4_Splice_Site|OAZ1_ENST00000583542.4_Splice_Site|OAZ1_ENST00000588673.2_Splice_Site|OAZ1_ENST00000322297.4_Splice_Site			P54368	OAZ1_HUMAN	ornithine decarboxylase antizyme 1						cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|polyamine biosynthetic process (GO:0006596)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein catabolic process (GO:0045732)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cytosol (GO:0005829)	ornithine decarboxylase inhibitor activity (GO:0008073)			endometrium(1)|lung(2)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	L-Ornithine(DB00129)	GCAAGGACAGGTGAGGGGCAA	0.667																																						uc002lvl.2		NA																	0					0						c.e3+1		Homo sapiens cDNA, FLJ97169.	L-Ornithine(DB00129)						20.0	21.0	21.0					19																	2271954		2051	4179	6230	SO:0001630	splice_region_variant	4946				polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	ornithine decarboxylase inhibitor activity	g.chr19:2271954G>A		CCDS58639.1	19p13.3	2008-07-17				ENSG00000104904			8095	protein-coding gene	gene with protein product	"""antizyme 1"""	601579		OAZ		7811704, 8954789	Standard	NM_004152		Approved	AZI, MGC138338	uc002lvk.3	P54368		ENST00000602676.2:c.464+1G>A	19.37:g.2271954G>A						OAZ1_uc002lvm.2_Splice_Site|SPPL2B_uc010dsw.1_Intron				P54368	OAZ1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	3		+		Hepatocellular(1079;0.137)						O43382|Q14989|Q92595|Q9UPL9	Splice_Site	SNP	ENST00000602676.2	37	c.543_splice	CCDS58639.1	.	.	.	.	.	.	.	.	.	.	G	28.2	4.898556	0.91962	.	.	ENSG00000104904	ENST00000322297	.	.	.	3.94	3.94	0.45596	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3285	0.74186	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	OAZ1	2222954	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.539000	0.82063	1.910000	0.55303	0.561000	0.74099	.		0.667	OAZ1-002	NOVEL	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467467.2	NM_004152	Intron	5	12	0	0	0	0	5	12				
CATSPERD	257062	broad.mit.edu	37	19	5772836	5772836	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr19:5772836G>T	ENST00000381624.3	+	20	1862	c.1801G>T	c.(1801-1803)Gag>Tag	p.E601*	CATSPERD_ENST00000309164.7_3'UTR	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta	601					multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											CATCGACGCCGAGTATGTGTT	0.607																																						uc002mda.2		NA																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(1801-1803)GAG>TAG		transmembrane protein 146 precursor							87.0	92.0	90.0					19																	5772836		2104	4222	6326	SO:0001587	stop_gained	257062					integral to membrane		g.chr19:5772836G>T	BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036	ENST00000381624.3:c.1801G>T	19.37:g.5772836G>T	ENSP00000371037:p.Glu601*						p.E601*	NM_152784	NP_689997	Q86XM0	TM146_HUMAN			20	1862	+			601			Extracellular (Potential).		Q6ZRP1	Nonsense_Mutation	SNP	ENST00000381624.3	37	c.1801G>T	CCDS12149.2	.	.	.	.	.	.	.	.	.	.	G	16.65	3.180986	0.57800	.	.	ENSG00000174898	ENST00000381624;ENST00000381613	.	.	.	3.01	1.93	0.25924	.	0.934592	0.08859	N	0.883243	.	.	.	.	.	.	0.18873	N	0.999988	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	-17.0525	7.8925	0.29686	0.0:0.2566:0.7434:0.0	.	.	.	.	X	601;270	.	ENSP00000371026:E270X	E	+	1	0	TMEM146	5723836	0.869000	0.29996	0.007000	0.13788	0.006000	0.05464	1.330000	0.33781	0.806000	0.34183	0.561000	0.74099	GAG		0.607	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000286953.2	NM_152784		22	69	1	0	2.98e-07	3.42e-07	22	69				
MUC16	94025	broad.mit.edu	37	19	9000504	9000504	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr19:9000504C>T	ENST00000397910.4	-	54	40683	c.40480G>A	c.(40480-40482)Gag>Aag	p.E13494K	MUC16_ENST00000380951.5_Missense_Mutation_p.E135K	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13496	SEA 10. {ECO:0000255|PROSITE- ProRule:PRU00188}.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGCATGTTCTCCTCATACCGC	0.478																																						uc002mkp.2		NA																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(40480-40482)GAG>AAG		mucin 16							192.0	162.0	172.0					19																	9000504		1978	4152	6130	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9000504C>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.40480G>A	19.37:g.9000504C>T	ENSP00000381008:p.Glu13494Lys					MUC16_uc010dwi.2_RNA|MUC16_uc010dwj.2_Missense_Mutation_p.E311K|MUC16_uc010xki.1_RNA	p.E13494K	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			54	40684	-			13496			SEA 10.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.40480G>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	.	10.65	1.408494	0.25378	.	.	ENSG00000181143	ENST00000397910;ENST00000380951	T;T	0.29142	1.58;1.58	2.9	0.649	0.17806	SEA (3);	.	.	.	.	T	0.36110	0.0955	L	0.39245	1.2	.	.	.	B;P	0.51537	0.02;0.946	B;D	0.70227	0.013;0.968	T	0.42447	-0.9451	8	0.19147	T	0.46	-0.1892	4.6098	0.12397	0.0:0.6529:0.0:0.3471	.	21139;13494	Q8WXI7;B5ME49	MUC16_HUMAN;.	K	13494;135	ENSP00000381008:E13494K;ENSP00000370338:E135K	ENSP00000370338:E135K	E	-	1	0	MUC16	8861504	0.000000	0.05858	0.001000	0.08648	0.003000	0.03518	-0.092000	0.11129	0.088000	0.17205	0.305000	0.20034	GAG		0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		11	48	0	0	0	0	11	48				
CYP4F3	4051	broad.mit.edu	37	19	15769113	15769113	+	Silent	SNP	T	T	C			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr19:15769113T>C	ENST00000221307.8	+	10	1202	c.1155T>C	c.(1153-1155)atT>atC	p.I385I	CYP4F3_ENST00000586182.2_Silent_p.I385I|CYP4F3_ENST00000585846.1_Silent_p.I385I|CYP4F3_ENST00000591058.1_Silent_p.I385I	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3	385					arachidonic acid metabolic process (GO:0019369)|icosanoid metabolic process (GO:0006690)|leukotriene metabolic process (GO:0006691)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	alpha-tocopherol omega-hydroxylase activity (GO:0052871)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|monooxygenase activity (GO:0004497)			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CCATGTGCATTAAGGAGAGCC	0.597																																						uc002nbj.2		NA																	0				ovary(3)	3						c.(1153-1155)ATT>ATC		cytochrome P450, family 4, subfamily F,							84.0	86.0	85.0					19																	15769113		2203	4300	6503	SO:0001819	synonymous_variant	4051				leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	g.chr19:15769113T>C	AB002454	CCDS12332.1, CCDS59362.1	19p13.12	2013-02-21	2003-01-14		ENSG00000186529	ENSG00000186529		"""Cytochrome P450s"""	2646	protein-coding gene	gene with protein product		601270	"""cytochrome P450, subfamily IVF, polypeptide 3 (leukotriene B4 omega hydroxylase)"""	LTB4H		8486631, 9539102	Standard	NM_000896		Approved	CYP4F	uc010xol.2	Q08477	OTTHUMG00000182374	ENST00000221307.8:c.1155T>C	19.37:g.15769113T>C						CYP4F3_uc010xok.1_Silent_p.I385I|CYP4F3_uc010xol.1_Silent_p.I385I|CYP4F3_uc010xom.1_Silent_p.I236I|CYP4F3_uc002nbk.2_Silent_p.I385I|CYP4F3_uc010xon.1_Silent_p.I95I	p.I385I	NM_000896	NP_000887	Q08477	CP4F3_HUMAN			10	1205	+			385					B7Z8Z3|O60634|Q5U740	Silent	SNP	ENST00000221307.8	37	c.1155T>C	CCDS12332.1																																																																																				0.597	CYP4F3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460819.3	NM_000896		4	102	0	0	0	0	4	102				
ZNF529	57711	broad.mit.edu	37	19	37039185	37039185	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr19:37039185C>T	ENST00000591340.1	-	5	433	c.275G>A	c.(274-276)gGa>gAa	p.G92E	ZNF529_ENST00000334116.7_5'UTR	NM_020951.4	NP_066002.3	Q6P280	ZN529_HUMAN	zinc finger protein 529	92	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	Esophageal squamous(110;0.198)					AATATCTTTTCCTACAGATAA	0.343																																						uc002oeh.3		NA																	0				breast(1)	1						c.(274-276)GGA>GAA		zinc finger protein 529 isoform a							52.0	42.0	45.0					19																	37039185		1824	4071	5895	SO:0001583	missense	57711				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37039185C>T	AK025110	CCDS54256.1	19q13.13	2014-08-22			ENSG00000186020	ENSG00000186020		"""Zinc fingers, C2H2-type"", ""-"""	29328	protein-coding gene	gene with protein product						10997877	Standard	NM_020951		Approved	KIAA1615	uc002oeh.4	Q6P280	OTTHUMG00000180714	ENST00000591340.1:c.275G>A	19.37:g.37039185C>T	ENSP00000465578:p.Gly92Glu					ZNF529_uc010xth.1_Missense_Mutation_p.G92E|ZNF529_uc010xti.1_Missense_Mutation_p.G74E|ZNF529_uc002oeg.3_5'UTR	p.G92E	NM_020951	NP_066002	Q6P280	ZN529_HUMAN			5	477	-	Esophageal squamous(110;0.198)		59			KRAB.		K7EKE1|Q9H731|Q9HCF7	Missense_Mutation	SNP	ENST00000591340.1	37	c.275G>A	CCDS54256.1	.	.	.	.	.	.	.	.	.	.	C	0.362	-0.938874	0.02340	.	.	ENSG00000186020	ENST00000334116	.	.	.	3.98	-4.2	0.03823	.	.	.	.	.	T	0.12902	0.0313	N	0.10782	0.045	0.09310	N	1	.	.	.	.	.	.	T	0.35549	-0.9784	6	0.02654	T	1	.	6.2563	0.20876	0.0:0.2114:0.1486:0.64	.	.	.	.	E	92	.	ENSP00000334695:G92E	G	-	2	0	ZNF529	41731025	0.000000	0.05858	0.000000	0.03702	0.176000	0.22953	-0.389000	0.07342	-0.708000	0.05015	0.591000	0.81541	GGA		0.343	ZNF529-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452730.1	NM_020951		4	15	0	0	0	0	4	15				
CCDC8	83987	broad.mit.edu	37	19	46914919	46914919	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr19:46914919G>C	ENST00000307522.3	-	1	1922	c.1149C>G	c.(1147-1149)caC>caG	p.H383Q		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	383			H -> Y (in dbSNP:rs34186470).		microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CCTCTTCCCTGTGGTTATCTG	0.582																																						uc002pep.2		NA																	0				ovary(3)	3						c.(1147-1149)CAC>CAG		coiled-coil domain containing 8							129.0	124.0	126.0					19																	46914919		2203	4300	6503	SO:0001583	missense	83987					plasma membrane		g.chr19:46914919G>C	BC025243	CCDS12685.1	19q13.33	2012-04-17			ENSG00000169515	ENSG00000169515		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25367	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 20"""	614145				11230166	Standard	NM_032040		Approved	DKFZp564K0322, 3M3, PPP1R20	uc002pep.3	Q9H0W5	OTTHUMG00000162348	ENST00000307522.3:c.1149C>G	19.37:g.46914919G>C	ENSP00000303158:p.His383Gln						p.H383Q	NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)	1	2001	-			383					Q8TB26	Missense_Mutation	SNP	ENST00000307522.3	37	c.1149C>G	CCDS12685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.088|0.088	-1.172606|-1.172606	0.01646|0.01646	.|.	.|.	ENSG00000169515|ENSG00000169515	ENST00000307522|ENST00000540252	T|.	0.10099|.	2.91|.	2.36|2.36	0.16|0.16	0.14972|0.14972	.|.	1.910480|.	0.03066|.	N|.	0.156491|.	T|T	0.08133|0.08133	0.0203|0.0203	N|N	0.01297|0.01297	-0.9|-0.9	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.01281|.	0.0|.	T|T	0.29912|0.29912	-0.9996|-0.9996	10|6	0.02654|0.22109	T|T	1|0.4	0.0649|0.0649	2.74|2.74	0.05251|0.05251	0.0:0.4217:0.2573:0.3211|0.0:0.4217:0.2573:0.3211	.|.	383|.	Q9H0W5|.	CCDC8_HUMAN|.	Q|R	383|230	ENSP00000303158:H383Q|.	ENSP00000303158:H383Q|ENSP00000441180:T230R	H|T	-|-	3|2	2|0	CCDC8|CCDC8	51606759|51606759	0.000000|0.000000	0.05858|0.05858	0.177000|0.177000	0.23020|0.23020	0.061000|0.061000	0.15899|0.15899	-0.244000|-0.244000	0.08903|0.08903	0.089000|0.089000	0.17243|0.17243	-0.661000|-0.661000	0.03856|0.03856	CAC|ACA		0.582	CCDC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368598.1	NM_032040		42	136	0	0	0	0	42	136				
ZNF614	80110	broad.mit.edu	37	19	52519599	52519599	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr19:52519599G>A	ENST00000270649.6	-	5	1796	c.1252C>T	c.(1252-1254)Cag>Tag	p.Q418*	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	418					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q418*(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TGAGTTCGCTGATGTATAACG	0.423																																						uc002pyj.2		NA																	1	Substitution - Nonsense(1)	p.Q418*(1)	upper_aerodigestive_tract(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	5						c.(1252-1254)CAG>TAG		zinc finger protein 614							167.0	164.0	165.0					19																	52519599		2203	4300	6503	SO:0001587	stop_gained	80110				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52519599G>A	BC022246	CCDS12847.1	19q13.41	2013-01-08				ENSG00000142556		"""Zinc fingers, C2H2-type"", ""-"""	24722	protein-coding gene	gene with protein product						12477932	Standard	NM_025040		Approved	FLJ21941	uc002pyj.3	Q8N883		ENST00000270649.6:c.1252C>T	19.37:g.52519599G>A	ENSP00000270649:p.Gln418*					ZNF614_uc002pyi.3_Intron|ZNF614_uc010epj.2_Nonsense_Mutation_p.Q121*	p.Q418*	NM_025040	NP_079316	Q8N883	ZN614_HUMAN		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)	5	1654	-		all_neural(266;0.0505)	418			C2H2-type 7.		Q494T8|Q8TCF4|Q9BSN8	Nonsense_Mutation	SNP	ENST00000270649.6	37	c.1252C>T	CCDS12847.1	.	.	.	.	.	.	.	.	.	.	G	39	7.772067	0.98480	.	.	ENSG00000142556	ENST00000270649	.	.	.	3.5	2.46	0.29980	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	6.4679	0.21991	0.2321:0.0:0.7679:0.0	.	.	.	.	X	418	.	ENSP00000270649:Q418X	Q	-	1	0	ZNF614	57211411	0.014000	0.17966	0.032000	0.17829	0.948000	0.59901	0.159000	0.16442	0.663000	0.31027	0.563000	0.77884	CAG		0.423	ZNF614-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462407.1	NM_025040		38	144	0	0	0	0	38	144				
NTSR2	23620	broad.mit.edu	37	2	11802096	11802096	+	Missense_Mutation	SNP	G	G	A	rs145680805		TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr2:11802096G>A	ENST00000306928.5	-	2	929	c.895C>T	c.(895-897)Ctc>Ttc	p.L299F		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	299					cell surface receptor signaling pathway (GO:0007166)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of membrane potential (GO:0042391)|sensory perception (GO:0007600)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled neurotensin receptor activity (GO:0016492)|G-protein coupled receptor activity (GO:0004930)			breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	ACTTAACTGAGAACCTGGACG	0.577																																						uc002rbq.3		NA																	0					0						c.(895-897)CTC>TTC		neurotensin receptor 2	Levocabastine(DB01106)	G	PHE/LEU	0,4406		0,0,2203	58.0	63.0	62.0		895	4.3	1.0	2	dbSNP_134	62	1,8599	1.2+/-3.3	0,1,4299	no	missense	NTSR2	NM_012344.3	22	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	299/411	11802096	1,13005	2203	4300	6503	SO:0001583	missense	23620				sensory perception	integral to plasma membrane		g.chr2:11802096G>A	Y10148	CCDS1681.1	2p25.1	2012-08-08			ENSG00000169006	ENSG00000169006		"""GPCR / Class A : Neurotensin receptors"""	8040	protein-coding gene	gene with protein product		605538				8647296, 9851594	Standard	NM_012344		Approved	NTR2	uc002rbq.4	O95665	OTTHUMG00000119083	ENST00000306928.5:c.895C>T	2.37:g.11802096G>A	ENSP00000303686:p.Leu299Phe						p.L299F	NM_012344	NP_036476	O95665	NTR2_HUMAN		Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	2	969	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		299			Helical; Name=6; (Potential).		Q53QQ5|Q57Z87|Q8IY58|Q8TBH6	Missense_Mutation	SNP	ENST00000306928.5	37	c.895C>T	CCDS1681.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.954889	0.73902	0.0	1.16E-4	ENSG00000169006	ENST00000306928	T	0.50277	0.75	4.31	4.31	0.51392	GPCR, rhodopsin-like superfamily (1);	0.178508	0.27375	N	0.019643	T	0.69450	0.3112	M	0.82517	2.595	0.35948	D	0.833703	D	0.76494	0.999	D	0.91635	0.999	T	0.79636	-0.1721	10	0.87932	D	0	.	12.9902	0.58614	0.0:0.0:1.0:0.0	.	299	O95665	NTR2_HUMAN	F	299	ENSP00000303686:L299F	ENSP00000303686:L299F	L	-	1	0	NTSR2	11719547	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	4.047000	0.57383	2.321000	0.78463	0.455000	0.32223	CTC		0.577	NTSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239297.1			20	89	0	0	0	0	20	89				
CASP8	841	broad.mit.edu	37	2	202131241	202131241	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr2:202131241G>A	ENST00000432109.2	+	3	221	c.32G>A	c.(31-33)gGg>gAg	p.G11E	CASP8_ENST00000264274.9_Missense_Mutation_p.G11E|CASP8_ENST00000392259.2_Missense_Mutation_p.G11E|CASP8_ENST00000323492.7_Missense_Mutation_p.G11E|CASP8_ENST00000358485.4_Missense_Mutation_p.G70E|CASP8_ENST00000392266.3_Missense_Mutation_p.G11E|CASP8_ENST00000392258.3_Missense_Mutation_p.G11E|CASP8_ENST00000264275.5_Missense_Mutation_p.G11E	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	11	DED 1. {ECO:0000255|PROSITE- ProRule:PRU00065}.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TATGATATTGGGGAACAACTG	0.398										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)	uc002uxr.1		NA																	0		p.G11R(1)		upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1)	5						c.(31-33)GGG>GAG		caspase 8 isoform B precursor							68.0	72.0	71.0					2																	202131241		2203	4300	6503	SO:0001583	missense	841				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding|protein binding	g.chr2:202131241G>A	U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.32G>A	2.37:g.202131241G>A	ENSP00000412523:p.Gly11Glu	HNSCC(4;0.00038)				CASP8_uc010ftc.1_Missense_Mutation_p.G11E|CASP8_uc002uxo.1_Missense_Mutation_p.G11E|CASP8_uc002uxp.1_Missense_Mutation_p.G11E|CASP8_uc002uxq.1_Missense_Mutation_p.G11E|CASP8_uc002uxs.1_Missense_Mutation_p.G11E|CASP8_uc002uxt.1_Missense_Mutation_p.G70E|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Intron|CASP8_uc002uxv.1_Missense_Mutation_p.G11E|CASP8_uc002uxw.1_Missense_Mutation_p.G11E|CASP8_uc002uxy.1_Missense_Mutation_p.G11E|CASP8_uc002uxx.1_Missense_Mutation_p.G11E|CASP8_uc010ftf.2_Missense_Mutation_p.G11E	p.G11E	NM_033355	NP_203519	Q14790	CASP8_HUMAN			3	241	+			11			DED 1.		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Missense_Mutation	SNP	ENST00000432109.2	37	c.32G>A	CCDS2342.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.645763	0.29246	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000392259;ENST00000392266;ENST00000432109;ENST00000264275;ENST00000440732;ENST00000392258;ENST00000447616;ENST00000358485;ENST00000392261;ENST00000413726;ENST00000323492;ENST00000429881	D;D;D;D;D;D;D;D;D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69	5.46	0.986	0.19784	DEATH-like (2);Death effector (3);	0.740466	0.13477	N	0.384987	D	0.88340	0.6410	L	0.48642	1.525	0.09310	N	1	D;P;D;D;D;P;P;D;D	0.76494	0.999;0.775;0.997;0.996;0.968;0.605;0.837;0.991;0.999	D;P;D;D;P;P;P;P;D	0.68765	0.943;0.762;0.933;0.96;0.767;0.593;0.559;0.853;0.951	D	0.83560	0.0106	10	0.56958	D	0.05	.	20.0017	0.97412	0.0:0.5101:0.4899:0.0	.	11;11;11;11;70;11;11;11;11	Q14790-3;E7ETB7;Q14790-7;A8MU92;Q14790-9;Q14790;Q14790-2;Q14790-4;Q14790-5	.;.;.;.;.;CASP8_HUMAN;.;.;.	E	11;11;11;11;11;11;11;11;11;70;11;11;11;11	ENSP00000376091:G11E;ENSP00000264274:G11E;ENSP00000376088:G11E;ENSP00000376094:G11E;ENSP00000412523:G11E;ENSP00000264275:G11E;ENSP00000396869:G11E;ENSP00000376087:G11E;ENSP00000388306:G11E;ENSP00000351273:G70E;ENSP00000397528:G11E;ENSP00000325722:G11E;ENSP00000390641:G11E	ENSP00000264274:G11E	G	+	2	0	CASP8	201839486	0.980000	0.34600	0.055000	0.19348	0.015000	0.08874	1.402000	0.34600	0.205000	0.20568	-0.176000	0.13171	GGG		0.398	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000336853.2	NM_001228		15	51	0	0	0	0	15	51				
PTPRA	5786	broad.mit.edu	37	20	2969023	2969023	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr20:2969023C>T	ENST00000216877.6	+	8	1014	c.614C>T	c.(613-615)aCc>aTc	p.T205I	PTPRA_ENST00000358719.4_Missense_Mutation_p.T70I|PTPRA_ENST00000399903.2_Missense_Mutation_p.T214I|PTPRA_ENST00000425918.2_Missense_Mutation_p.T225I|PTPRA_ENST00000380393.3_Missense_Mutation_p.T214I|PTPRA_ENST00000318266.5_Missense_Mutation_p.T205I|PTPRA_ENST00000356147.3_Missense_Mutation_p.T205I	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	214					axon guidance (GO:0007411)|insulin receptor signaling pathway (GO:0008286)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein phosphorylation (GO:0006468)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.T214I(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TCCCCAAGCACCAACAGGAAA	0.547																																						uc010zqd.1		NA																	1	Substitution - Missense(1)	p.T214I(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)	1						c.(673-675)ACC>ATC		protein tyrosine phosphatase, receptor type, A							99.0	98.0	98.0					20																	2969023		2203	4300	6503	SO:0001583	missense	5786				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	g.chr20:2969023C>T		CCDS13038.1, CCDS13039.1	20p13	2011-06-09			ENSG00000132670	ENSG00000132670		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9664	protein-coding gene	gene with protein product		176884		PTPRL2, PTPA		2172030, 2169617	Standard	NM_080840		Approved	LRP, HLPR, HPTPA, RPTPA	uc002whn.3	P18433	OTTHUMG00000031718	ENST00000216877.6:c.614C>T	20.37:g.2969023C>T	ENSP00000216877:p.Thr205Ile					PTPRA_uc002whj.2_Missense_Mutation_p.T214I|PTPRA_uc010zqc.1_Missense_Mutation_p.T99I|PTPRA_uc002whk.2_Missense_Mutation_p.T205I|PTPRA_uc002whl.2_Missense_Mutation_p.T205I|PTPRA_uc002whm.2_5'UTR|PTPRA_uc002whn.2_Missense_Mutation_p.T205I|PTPRA_uc002who.2_5'UTR	p.T225I	NM_002836	NP_002827	P18433	PTPRA_HUMAN			8	991	+			214			Cytoplasmic (Potential).		A8K2G8|D3DVX5|Q14513|Q7Z2I2|Q96TD9	Missense_Mutation	SNP	ENST00000216877.6	37	c.674C>T	CCDS13039.1	.	.	.	.	.	.	.	.	.	.	C	32	5.137704	0.94517	.	.	ENSG00000132670	ENST00000380393;ENST00000455631;ENST00000216877;ENST00000399903;ENST00000358719;ENST00000425918;ENST00000318266;ENST00000356147	T;T;T;T;T;T;T;T	0.52526	3.85;0.66;3.86;3.85;3.83;3.85;3.86;3.86	5.52	5.52	0.82312	.	0.000000	0.85682	U	0.000000	T	0.40645	0.1125	N	0.25647	0.755	0.80722	D	1	P;P;P	0.41947	0.692;0.658;0.766	B;B;B	0.39094	0.258;0.201;0.29	T	0.43343	-0.9397	10	0.72032	D	0.01	.	19.4461	0.94847	0.0:1.0:0.0:0.0	.	225;214;205	B7Z2A4;P18433-3;P18433-4	.;.;.	I	214;205;205;214;70;225;205;205	ENSP00000369756:T214I;ENSP00000414089:T205I;ENSP00000216877:T205I;ENSP00000382787:T214I;ENSP00000351559:T70I;ENSP00000393553:T225I;ENSP00000314568:T205I;ENSP00000348468:T205I	ENSP00000216877:T205I	T	+	2	0	PTPRA	2917023	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.608000	0.82898	2.575000	0.86900	0.557000	0.71058	ACC		0.547	PTPRA-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077682.3			15	56	0	0	0	0	15	56				
DIDO1	11083	broad.mit.edu	37	20	61511734	61511734	+	Silent	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr20:61511734G>A	ENST00000266070.4	-	16	5899	c.5574C>T	c.(5572-5574)gcC>gcT	p.A1858A	DIDO1_ENST00000395343.1_Silent_p.A1858A	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1858	Pro-rich.				apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CGTTATACGGGGCGTCCTGGA	0.622																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NA																	0				ovary(3)|skin(3)	6						c.(5572-5574)GCC>GCT		death inducer-obliterator 1 isoform c							53.0	56.0	55.0					20																	61511734		2203	4296	6499	SO:0001819	synonymous_variant	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61511734G>A	AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.5574C>T	20.37:g.61511734G>A						DIDO1_uc002yds.1_Silent_p.A1858A	p.A1858A	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			16	5838	-	Breast(26;5.68e-08)		1858			Pro-rich.		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Silent	SNP	ENST00000266070.4	37	c.5574C>T	CCDS33506.1																																																																																				0.622	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		20	79	0	0	0	0	20	79				
ARVCF	421	broad.mit.edu	37	22	19960526	19960526	+	Silent	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr22:19960526G>A	ENST00000263207.3	-	15	2763	c.2472C>T	c.(2470-2472)caC>caT	p.H824H	ARVCF_ENST00000406522.1_Silent_p.H755H|ARVCF_ENST00000401994.1_Silent_p.H761H|ARVCF_ENST00000406259.1_Silent_p.H818H|ARVCF_ENST00000344269.3_Silent_p.H761H	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	824					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|single organismal cell-cell adhesion (GO:0016337)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					TCTGCAGCACGTGTGACGCCG	0.672																																						uc002zqz.2		NA																	0				liver(1)	1						c.(2470-2472)CAC>CAT		armadillo repeat protein							147.0	127.0	134.0					22																	19960526		2203	4300	6503	SO:0001819	synonymous_variant	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19960526G>A		CCDS13771.1	22q11.21	2013-02-14	2010-04-28		ENSG00000099889	ENSG00000099889		"""Armadillo repeat containing"""	728	protein-coding gene	gene with protein product		602269				9126485, 15456900	Standard	NM_001670		Approved		uc002zqz.3	O00192	OTTHUMG00000030426	ENST00000263207.3:c.2472C>T	22.37:g.19960526G>A						ARVCF_uc002zqy.2_Silent_p.H340H	p.H824H	NM_001670	NP_001661	O00192	ARVC_HUMAN			15	2743	-	Colorectal(54;0.0993)		824			ARM 10.		B7WNV2	Silent	SNP	ENST00000263207.3	37	c.2472C>T	CCDS13771.1																																																																																				0.672	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		27	65	0	0	0	0	27	65				
SLC5A4	6527	broad.mit.edu	37	22	32614659	32614659	+	Missense_Mutation	SNP	C	C	T	rs150790454		TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr22:32614659C>T	ENST00000266086.4	-	15	1833	c.1822G>A	c.(1822-1824)Ggt>Agt	p.G608S	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	608					carbohydrate transport (GO:0008643)|sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTCTGCAAACCGCAGAACAAG	0.468																																						uc003ami.2		NA																	0					0						c.(1822-1824)GGT>AGT		solute carrier family 5 (low affinity glucose		C	SER/GLY	0,4406		0,0,2203	123.0	98.0	107.0		1822	2.1	0.0	22	dbSNP_134	107	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC5A4	NM_014227.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	608/660	32614659	1,13005	2203	4300	6503	SO:0001583	missense	6527				carbohydrate transport|sodium ion transport	integral to membrane	symporter activity	g.chr22:32614659C>T	U41897	CCDS13903.1	22q12.3	2013-07-19	2013-07-19		ENSG00000100191	ENSG00000100191		"""Solute carriers"""	11039	protein-coding gene	gene with protein product			"""solute carrier family 5 (low affinity glucose cotransporter), member 4"""			9501190, 12354616	Standard	NM_014227		Approved	SAAT1, SGLT3, DJ90G24.4	uc003ami.3	Q9NY91	OTTHUMG00000150007	ENST00000266086.4:c.1822G>A	22.37:g.32614659C>T	ENSP00000266086:p.Gly608Ser						p.G608S	NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN			15	1824	-			608			Cytoplasmic (Potential).		O15279	Missense_Mutation	SNP	ENST00000266086.4	37	c.1822G>A	CCDS13903.1	.	.	.	.	.	.	.	.	.	.	C	14.17	2.455833	0.43634	0.0	1.16E-4	ENSG00000100191	ENST00000266086	D	0.88818	-2.43	4.23	2.09	0.27110	.	0.000000	0.85682	D	0.000000	D	0.94295	0.8167	M	0.92317	3.295	0.54753	D	0.99998	D	0.76494	0.999	D	0.75020	0.985	D	0.92532	0.6034	10	0.72032	D	0.01	.	7.2406	0.26094	0.0:0.7284:0.1729:0.0987	.	608	Q9NY91	SC5A4_HUMAN	S	608	ENSP00000266086:G608S	ENSP00000266086:G608S	G	-	1	0	SLC5A4	30944659	1.000000	0.71417	0.029000	0.17559	0.004000	0.04260	4.708000	0.61859	0.417000	0.25871	-0.251000	0.11542	GGT		0.468	SLC5A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315724.1	NM_014227		9	59	0	0	0	0	9	59				
TRIOBP	11078	broad.mit.edu	37	22	38121554	38121554	+	Silent	SNP	C	C	T	rs200913574	byFrequency	TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr22:38121554C>T	ENST00000406386.3	+	7	3246	c.2991C>T	c.(2989-2991)ccC>ccT	p.P997P		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	997					actin modification (GO:0030047)|barbed-end actin filament capping (GO:0051016)|mitotic nuclear division (GO:0007067)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	actin filament binding (GO:0051015)|GTP-Rho binding (GO:0017049)|myosin II binding (GO:0045159)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CTGTGTACCCCGCTGCCTATG	0.652													C|||	3	0.000599042	0.0	0.0	5008	,	,		13698	0.003		0.0	False		,,,				2504	0.0					uc003atr.2		NA																	0				central_nervous_system(1)	1						c.(2989-2991)CCC>CCT		TRIO and F-actin binding protein isoform 6							101.0	117.0	112.0					22																	38121554		2038	4176	6214	SO:0001819	synonymous_variant	11078				actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding	g.chr22:38121554C>T	AB051449	CCDS33644.1, CCDS43015.1, CCDS43016.1	22q13.1	2014-06-03			ENSG00000100106	ENSG00000100106		"""Pleckstrin homology (PH) domain containing"""	17009	protein-coding gene	gene with protein product		609761		DFNB28		11148140, 16385457, 16385458	Standard	NM_001039141		Approved	HRIHFB2122, KIAA1662, Tara, TAP68	uc003atr.3	Q9H2D6	OTTHUMG00000150657	ENST00000406386.3:c.2991C>T	22.37:g.38121554C>T						TRIOBP_uc003atu.2_Silent_p.P825P|TRIOBP_uc003atq.1_Silent_p.P997P|TRIOBP_uc003ats.1_Silent_p.P825P	p.P997P	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN			7	3262	+	Melanoma(58;0.0574)		997					B1AHD4|B1AHD7|F2Z2W0|F8W6V6|O94797|Q2PZW8|Q2Q3Z9|Q2Q400|Q5R3M6|Q96DW1|Q9BT77|Q9BTL7|Q9BY98|Q9Y3L4	Silent	SNP	ENST00000406386.3	37	c.2991C>T	CCDS43015.1																																																																																				0.652	TRIOBP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319439.2			25	124	0	0	0	0	25	124				
ZC3H7B	23264	broad.mit.edu	37	22	41753277	41753277	+	Silent	SNP	G	G	C			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr22:41753277G>C	ENST00000352645.4	+	23	3035	c.2778G>C	c.(2776-2778)ctG>ctC	p.L926L	ZC3H7B_ENST00000351589.4_Silent_p.L926L	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	942					viral process (GO:0016032)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GCGAGGTGCTGAAGCAGAAGT	0.617																																						uc003azw.2		NA																	0				central_nervous_system(1)	1						c.(2776-2778)CTG>CTC		zinc finger CCCH-type containing 7B							83.0	82.0	82.0					22																	41753277		2203	4300	6503	SO:0001819	synonymous_variant	23264				interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding	g.chr22:41753277G>C		CCDS14013.1	22q13.2	2013-01-10		2005-08-09	ENSG00000100403	ENSG00000100403		"""Zinc fingers, CCCH-type domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30869	protein-coding gene	gene with protein product						10470851, 11230166	Standard	NM_017590		Approved	RoXaN, FLJ13787, DKFZp434K0920, KIAA1031	uc003azw.4	Q9UGR2	OTTHUMG00000150969	ENST00000352645.4:c.2778G>C	22.37:g.41753277G>C						ZC3H7B_uc010gyl.1_Intron	p.L926L	NM_017590	NP_060060	Q9UGR2	Z3H7B_HUMAN			23	2994	+			942			Potential.		A7YY88|B2RCA4|Q5TFX9|Q8TBT9|Q9H8B6|Q9UGQ9|Q9UGR0|Q9UGR1|Q9UK03|Q9UPW9	Silent	SNP	ENST00000352645.4	37	c.2778G>C	CCDS14013.1																																																																																				0.617	ZC3H7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320696.1	NM_017590		13	88	0	0	0	0	13	88				
LMCD1	29995	broad.mit.edu	37	3	8609125	8609125	+	Splice_Site	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr3:8609125G>A	ENST00000157600.3	+	6	1171		c.e6-1		LMCD1_ENST00000397386.3_Splice_Site|LMCD1_ENST00000454244.1_Splice_Site|LMCD1-AS1_ENST00000439407.1_RNA	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1						negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|regulation of cardiac muscle hypertrophy (GO:0010611)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		CCCCTCCCCAGATAATATTCG	0.532																																						uc003bqq.2		NA																	0				ovary(1)	1						c.e6-1		LIM and cysteine-rich domains 1							223.0	216.0	218.0					3																	8609125		2203	4300	6503	SO:0001630	splice_region_variant	29995				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding	g.chr3:8609125G>A	AF169284	CCDS33688.1, CCDS63533.1, CCDS63534.1	3p26-p24	2008-07-18			ENSG00000071282	ENSG00000071282			6633	protein-coding gene	gene with protein product	"""dyxin"""	604859				10662546	Standard	NM_001278233		Approved		uc003bqq.4	Q9NZU5	OTTHUMG00000154971	ENST00000157600.3:c.940-1G>A	3.37:g.8609125G>A						LMCD1_uc011atd.1_Splice_Site_p.I241_splice|LMCD1_uc011ate.1_Splice_Site_p.I202_splice	p.I314_splice	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.124)	6	1054	+								B4DG80	Splice_Site	SNP	ENST00000157600.3	37	c.940_splice	CCDS33688.1	.	.	.	.	.	.	.	.	.	.	G	26.8	4.776023	0.90195	.	.	ENSG00000071282	ENST00000157600;ENST00000454244;ENST00000397386	.	.	.	5.52	5.52	0.82312	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3554	0.90356	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	LMCD1	8584125	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.697000	0.98697	2.765000	0.95021	0.591000	0.81541	.		0.532	LMCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337854.1	NM_014583	Intron	44	230	0	0	0	0	44	230				
LMCD1	29995	broad.mit.edu	37	3	8609159	8609159	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr3:8609159G>A	ENST00000157600.3	+	6	1205	c.973G>A	c.(973-975)Gat>Aat	p.D325N	LMCD1_ENST00000397386.3_Missense_Mutation_p.D213N|LMCD1_ENST00000454244.1_Missense_Mutation_p.D252N|LMCD1-AS1_ENST00000439407.1_RNA	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	325	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|regulation of cardiac muscle hypertrophy (GO:0010611)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)	transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		GCGTGTGGAAGATCTGGCCTG	0.552																																						uc003bqq.2		NA																	0				ovary(1)	1						c.(973-975)GAT>AAT		LIM and cysteine-rich domains 1							258.0	247.0	250.0					3																	8609159		2203	4300	6503	SO:0001583	missense	29995				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding	g.chr3:8609159G>A	AF169284	CCDS33688.1, CCDS63533.1, CCDS63534.1	3p26-p24	2008-07-18			ENSG00000071282	ENSG00000071282			6633	protein-coding gene	gene with protein product	"""dyxin"""	604859				10662546	Standard	NM_001278233		Approved		uc003bqq.4	Q9NZU5	OTTHUMG00000154971	ENST00000157600.3:c.973G>A	3.37:g.8609159G>A	ENSP00000157600:p.Asp325Asn					LMCD1_uc011atd.1_Missense_Mutation_p.D252N|LMCD1_uc011ate.1_Missense_Mutation_p.D213N	p.D325N	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.124)	6	1087	+			325			LIM zinc-binding 2.		B4DG80	Missense_Mutation	SNP	ENST00000157600.3	37	c.973G>A	CCDS33688.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.602063	0.46423	.	.	ENSG00000071282	ENST00000157600;ENST00000454244;ENST00000397386	D;D;D	0.87809	-2.3;-2.3;-2.3	5.52	5.52	0.82312	Zinc finger, LIM-type (5);	0.168479	0.39909	N	0.001221	T	0.82038	0.4950	L	0.28115	0.83	0.39884	D	0.973675	B;P	0.40578	0.005;0.722	B;P	0.46172	0.012;0.506	T	0.78221	-0.2288	10	0.16896	T	0.51	-39.9717	11.8008	0.52126	0.0812:0.0:0.9188:0.0	.	213;325	B4DEY6;Q9NZU5	.;LMCD1_HUMAN	N	325;252;213	ENSP00000157600:D325N;ENSP00000396515:D252N;ENSP00000380542:D213N	ENSP00000157600:D325N	D	+	1	0	LMCD1	8584159	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.897000	0.87356	2.765000	0.95021	0.591000	0.81541	GAT		0.552	LMCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337854.1	NM_014583		51	248	0	0	0	0	51	248				
CCDC13	152206	broad.mit.edu	37	3	42799629	42799629	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr3:42799629C>A	ENST00000310232.6	-	2	292	c.209G>T	c.(208-210)aGc>aTc	p.S70I	CCDC13_ENST00000435327.2_5'UTR	NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	70										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CTTCTCAAAGCTATTTTTCGA	0.498																																						uc003cly.3		NA																	0				ovary(1)	1						c.(208-210)AGC>ATC		coiled-coil domain containing 13							121.0	109.0	113.0					3																	42799629		2203	4300	6503	SO:0001583	missense	152206							g.chr3:42799629C>A	AK058196	CCDS2705.1	3p22.1	2005-01-25			ENSG00000244607	ENSG00000244607			26358	protein-coding gene	gene with protein product						12477932	Standard	NM_144719		Approved	FLJ25467	uc003cly.4	Q8IYE1	OTTHUMG00000133046	ENST00000310232.6:c.209G>T	3.37:g.42799629C>A	ENSP00000309836:p.Ser70Ile					CCDC13_uc003clz.2_Missense_Mutation_p.S70I|CCDC13_uc011azq.1_Missense_Mutation_p.S70I	p.S70I	NM_144719	NP_653320	Q8IYE1	CCD13_HUMAN			2	293	-			70			Potential.			Missense_Mutation	SNP	ENST00000310232.6	37	c.209G>T	CCDS2705.1	.	.	.	.	.	.	.	.	.	.	C	2.334	-0.352770	0.05173	.	.	ENSG00000244607	ENST00000310232	T	0.23348	1.91	4.59	0.288	0.15719	.	0.907899	0.09711	N	0.765754	T	0.14700	0.0355	L	0.31294	0.92	0.09310	N	1	B;B;B	0.09022	0.002;0.002;0.002	B;B;B	0.12837	0.008;0.005;0.003	T	0.31888	-0.9927	10	0.33940	T	0.23	.	1.331	0.02135	0.1605:0.3105:0.3261:0.203	.	70;70;70	B4DZD2;Q96LI1;Q8IYE1	.;.;CCD13_HUMAN	I	70	ENSP00000309836:S70I	ENSP00000309836:S70I	S	-	2	0	CCDC13	42774633	0.132000	0.22450	0.013000	0.15412	0.155000	0.21991	-0.050000	0.11904	0.138000	0.18790	0.655000	0.94253	AGC		0.498	CCDC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256652.1	NM_144719		8	41	1	0	5.49e-09	6.42e-09	8	41				
CCDC14	64770	broad.mit.edu	37	3	123665761	123665761	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr3:123665761T>C	ENST00000488653.2	-	8	1324	c.1234A>G	c.(1234-1236)Aca>Gca	p.T412A	CCDC14_ENST00000433542.2_Missense_Mutation_p.T371A|CCDC14_ENST00000485727.1_Missense_Mutation_p.T212A|CCDC14_ENST00000310351.4_Missense_Mutation_p.T252A|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000489746.1_Missense_Mutation_p.T212A			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	412					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		ACTGTTTTTGTATCTCGCACA	0.383																																						uc011bjx.1		NA																	0					0						c.(1234-1236)ACA>GCA		coiled-coil domain containing 14							197.0	201.0	200.0					3																	123665761		2203	4300	6503	SO:0001583	missense	64770					centrosome		g.chr3:123665761T>C	AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.1234A>G	3.37:g.123665761T>C	ENSP00000420180:p.Thr412Ala					CCDC14_uc003egv.3_Intron|CCDC14_uc003egx.3_Missense_Mutation_p.T212A|CCDC14_uc010hrt.2_Missense_Mutation_p.T371A|CCDC14_uc003egy.3_Missense_Mutation_p.T212A|CCDC14_uc003egz.2_Missense_Mutation_p.T212A	p.T412A	NM_022757	NP_073594	Q49A88	CCD14_HUMAN		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)	8	1325	-		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)	412			Potential.		B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	ENST00000488653.2	37	c.1234A>G		.	.	.	.	.	.	.	.	.	.	T	0.006	-2.038716	0.00402	.	.	ENSG00000175455	ENST00000488653;ENST00000310351;ENST00000485727;ENST00000489746;ENST00000433542;ENST00000409697;ENST00000426152	T;T;T;T;T;T;T	0.40476	1.03;1.03;1.03;1.03;1.03;1.03;1.03	5.64	-1.23	0.09465	.	0.734122	0.12428	N	0.469817	T	0.12347	0.0300	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.001;0.001	T	0.28299	-1.0048	10	0.02654	T	1	.	2.3271	0.04225	0.1398:0.3314:0.1002:0.4286	.	412;371;212	Q49A88;Q49A88-6;Q49A88-4	CCD14_HUMAN;.;.	A	412;252;212;212;371;393;138	ENSP00000420180:T412A;ENSP00000312031:T252A;ENSP00000418002:T212A;ENSP00000418403:T212A;ENSP00000395706:T371A;ENSP00000386866:T393A;ENSP00000414655:T138A	ENSP00000312031:T252A	T	-	1	0	CCDC14	125148451	0.282000	0.24268	0.007000	0.13788	0.161000	0.22273	0.161000	0.16481	-0.100000	0.12241	-0.248000	0.11899	ACA		0.383	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_022757		31	104	0	0	0	0	31	104				
PIK3CA	5290	broad.mit.edu	37	3	178916944	178916944	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr3:178916944A>G	ENST00000263967.3	+	2	488	c.331A>G	c.(331-333)Aag>Gag	p.K111E		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	111					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.K111E(13)|p.K111_L113delKIL(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CCGTGAAGAAAAGATCCTCAA	0.333		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	uc003fjk.2		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		15	Substitution - Missense(13)|Deletion - In frame(2)	p.K111N(10)|p.K111E(7)|p.K111R(1)|p.K111del(1)|p.K111_I112>N(1)	endometrium(8)|breast(2)|ovary(2)|large_intestine(1)|urinary_tract(1)|lung(1)	breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553						c.(331-333)AAG>GAG		phosphoinositide-3-kinase, catalytic, alpha							83.0	79.0	80.0					3																	178916944		1819	4069	5888	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178916944A>G		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.331A>G	3.37:g.178916944A>G	ENSP00000263967:p.Lys111Glu	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.K111E	NM_006218	NP_006209	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		2	488	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		111					Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.331A>G	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	24.4	4.522008	0.85600	.	.	ENSG00000121879	ENST00000263967;ENST00000468036	T;T	0.76448	0.86;-1.02	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.87022	0.6074	M	0.78637	2.42	0.80722	D	1	D	0.69078	0.997	D	0.65010	0.931	D	0.87742	0.2586	9	.	.	.	-23.7658	15.6301	0.76899	1.0:0.0:0.0:0.0	.	111	P42336	PK3CA_HUMAN	E	111	ENSP00000263967:K111E;ENSP00000417479:K111E	.	K	+	1	0	PIK3CA	180399638	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.047000	0.76599	2.089000	0.63090	0.454000	0.30748	AAG		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			23	64	0	0	0	0	23	64				
EIF4G1	1981	broad.mit.edu	37	3	184039612	184039612	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr3:184039612G>A	ENST00000346169.2	+	10	1511	c.1240G>A	c.(1240-1242)Gac>Aac	p.D414N	EIF4G1_ENST00000342981.4_Missense_Mutation_p.D414N|EIF4G1_ENST00000319274.6_Missense_Mutation_p.D414N|EIF4G1_ENST00000427845.1_Missense_Mutation_p.D327N|EIF4G1_ENST00000434061.2_Missense_Mutation_p.D218N|EIF4G1_ENST00000392537.2_Missense_Mutation_p.D327N|EIF4G1_ENST00000435046.2_Missense_Mutation_p.D218N|EIF4G1_ENST00000382330.3_Missense_Mutation_p.D421N|EIF4G1_ENST00000414031.1_Missense_Mutation_p.D374N|EIF4G1_ENST00000350481.5_Missense_Mutation_p.D250N|EIF4G1_ENST00000411531.1_Missense_Mutation_p.D374N|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.D250N|EIF4G1_ENST00000352767.3_Missense_Mutation_p.D421N|EIF4G1_ENST00000424196.1_Missense_Mutation_p.D421N	NM_198241.2	NP_937884	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	414					cell death (GO:0008219)|cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|lung development (GO:0030324)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|response to ethanol (GO:0045471)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)	p.D414N(1)		central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ACCAGCTGTGGACTTAAGCCC	0.632																																						uc003fnp.2		NA																	1	Substitution - Missense(1)	p.D414N(1)	upper_aerodigestive_tract(1)	lung(2)|ovary(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	7						c.(1240-1242)GAC>AAC		eukaryotic translation initiation factor 4							160.0	171.0	167.0					3																	184039612		2203	4300	6503	SO:0001583	missense	1981				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity	g.chr3:184039612G>A	D12686	CCDS3259.1, CCDS3260.1, CCDS3261.1, CCDS46970.1, CCDS46970.2, CCDS54687.1, CCDS54688.1	3q27.1	2013-09-19			ENSG00000114867	ENSG00000114867		"""Parkinson disease"""	3296	protein-coding gene	gene with protein product		600495		EIF4G, EIF4F		1429670, 9372926, 21907011	Standard	NM_182917		Approved	p220, PARK18	uc010hxy.3	Q04637	OTTHUMG00000156784	ENST00000346169.2:c.1240G>A	3.37:g.184039612G>A	ENSP00000316879:p.Asp414Asn					EIF4G1_uc003fno.1_Missense_Mutation_p.D355N|EIF4G1_uc010hxw.1_Missense_Mutation_p.D250N|EIF4G1_uc003fnt.2_Missense_Mutation_p.D125N|EIF4G1_uc003fnq.2_Missense_Mutation_p.D327N|EIF4G1_uc003fnr.2_Missense_Mutation_p.D250N|EIF4G1_uc010hxx.2_Missense_Mutation_p.D421N|EIF4G1_uc003fns.2_Missense_Mutation_p.D374N|EIF4G1_uc010hxy.2_Missense_Mutation_p.D421N|EIF4G1_uc003fnv.3_Missense_Mutation_p.D414N|EIF4G1_uc003fnu.3_Missense_Mutation_p.D414N|EIF4G1_uc003fnw.2_Missense_Mutation_p.D421N|EIF4G1_uc003fnx.2_Missense_Mutation_p.D218N|EIF4G1_uc003fny.3_Missense_Mutation_p.D218N	p.D414N	NM_198241	NP_937884	Q04637	IF4G1_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		10	1438	+	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		414					D3DNT2|D3DNT4|D3DNT5|E9PFM1|G5E9S1|O43177|O95066|Q5HYG0|Q6ZN21|Q8N102	Missense_Mutation	SNP	ENST00000346169.2	37	c.1240G>A	CCDS3259.1	.	.	.	.	.	.	.	.	.	.	G	15.98	2.991523	0.54041	.	.	ENSG00000114867	ENST00000346169;ENST00000414031;ENST00000392537;ENST00000450424;ENST00000421110;ENST00000382330;ENST00000426123;ENST00000350481;ENST00000352767;ENST00000427845;ENST00000342981;ENST00000319274;ENST00000424196;ENST00000411531;ENST00000444861;ENST00000441154;ENST00000434061;ENST00000457456;ENST00000435046	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;-0.06;1.25;-0.06	5.45	5.45	0.79879	.	0.448545	0.25335	N	0.031416	T	0.69187	0.3083	L	0.40543	1.245	0.41348	D	0.987345	D;B;D;B	0.63880	0.982;0.027;0.993;0.027	P;B;D;B	0.70935	0.702;0.008;0.971;0.008	T	0.64753	-0.6333	10	0.30078	T	0.28	-19.6715	12.8961	0.58099	0.0:0.1631:0.8369:0.0	.	421;414;414;421	E9PFM1;D3DNT2;Q04637;B2RU10	.;.;IF4G1_HUMAN;.	N	414;374;327;414;421;421;355;250;421;327;414;414;421;374;250;250;218;218;218	ENSP00000316879:D414N;ENSP00000391935:D374N;ENSP00000376320:D327N;ENSP00000391412:D414N;ENSP00000413159:D421N;ENSP00000371767:D421N;ENSP00000403269:D355N;ENSP00000317600:D250N;ENSP00000338020:D421N;ENSP00000407682:D327N;ENSP00000343450:D414N;ENSP00000323737:D414N;ENSP00000416255:D421N;ENSP00000395974:D374N;ENSP00000398145:D250N;ENSP00000399858:D250N;ENSP00000411826:D218N;ENSP00000399969:D218N;ENSP00000404754:D218N	ENSP00000323737:D414N	D	+	1	0	EIF4G1	185522306	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.296000	0.51802	2.732000	0.93576	0.563000	0.77884	GAC		0.632	EIF4G1-007	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000345733.1	NM_182917		64	255	0	0	0	0	64	255				
JAKMIP1	152789	broad.mit.edu	37	4	6107523	6107523	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr4:6107523G>A	ENST00000282924.5	-	3	786	c.301C>T	c.(301-303)Cgc>Tgc	p.R101C	JAKMIP1_ENST00000409021.3_Missense_Mutation_p.R101C|JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.R101C|JAKMIP1_ENST00000457227.2_Intron	NM_144720.3	NP_653321.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	101	Mediates association with microtubules.				cognition (GO:0050890)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|microtubule (GO:0005874)|ribonucleoprotein complex (GO:0030529)	GABA receptor binding (GO:0050811)|RNA binding (GO:0003723)			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTGGCGGTGCGCGCCGCCTCC	0.677																																						uc003giu.3		NA																	0				large_intestine(1)|pancreas(1)|ovary(1)|skin(1)	4						c.(301-303)CGC>TGC		janus kinase and microtubule interacting protein							16.0	16.0	16.0					4																	6107523		2164	4244	6408	SO:0001583	missense	152789				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding	g.chr4:6107523G>A	AK056126	CCDS3385.1, CCDS47005.1	4p16.1	2013-10-11	2009-08-13		ENSG00000152969	ENSG00000152969			26460	protein-coding gene	gene with protein product		611195				18941173	Standard	NM_144720		Approved	MARLIN1, JAMIP1, Gababrbp, FLJ31564	uc010idb.1	Q96N16	OTTHUMG00000125491	ENST00000282924.5:c.301C>T	4.37:g.6107523G>A	ENSP00000282924:p.Arg101Cys					JAKMIP1_uc010idb.1_Missense_Mutation_p.R101C|JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.R101C|JAKMIP1_uc011bwc.1_Intron|JAKMIP1_uc003giv.3_Missense_Mutation_p.R101C|JAKMIP1_uc010ide.2_Missense_Mutation_p.R101C	p.R101C	NM_144720	NP_653321	Q96N16	JKIP1_HUMAN			3	577	-			101			Potential.|Mediates association with microtubules.		A6H2J2|A6H2J3|A6H2J4|A6H2J5|A8MTK6|B4DHZ8|B8ZZR7|D3DVT0|Q86Y69|Q8N7G3	Missense_Mutation	SNP	ENST00000282924.5	37	c.301C>T	CCDS3385.1	.	.	.	.	.	.	.	.	.	.	g	20.2	3.952250	0.73787	.	.	ENSG00000152969	ENST00000409021;ENST00000418227;ENST00000425341;ENST00000429819;ENST00000282924;ENST00000409831	T;T;T	0.51817	0.69;0.69;0.69	4.44	4.44	0.53790	.	0.000000	0.64402	D	0.000004	T	0.68357	0.2992	M	0.79926	2.475	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.992;0.996;0.992	T	0.73260	-0.4039	10	0.87932	D	0	.	12.2688	0.54693	0.0:0.0:0.8183:0.1817	.	101;101;101	F2Z2K5;Q96N16-2;Q96N16	.;.;JKIP1_HUMAN	C	101;101;101;40;101;101	ENSP00000386711:R101C;ENSP00000282924:R101C;ENSP00000386925:R101C	ENSP00000282924:R101C	R	-	1	0	JAKMIP1	6158424	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.309000	0.51903	2.162000	0.67917	0.479000	0.44913	CGC		0.677	JAKMIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246816.2	NM_144720		4	17	0	0	0	0	4	17				
AFF1	4299	broad.mit.edu	37	4	88035995	88035995	+	Silent	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr4:88035995G>A	ENST00000307808.6	+	11	2409	c.1989G>A	c.(1987-1989)gtG>gtA	p.V663V	AFF1_ENST00000395146.4_Silent_p.V670V|AFF1_ENST00000544085.1_Silent_p.V301V	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	663					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AGCCAGCAGTGCCCCCCTCCA	0.607																																						uc003hqj.3		NA																	0				breast(1)	1						c.(1987-1989)GTG>GTA		myeloid/lymphoid or mixed-lineage leukemia							43.0	52.0	49.0					4																	88035995		2203	4300	6503	SO:0001819	synonymous_variant	4299					nucleus	sequence-specific DNA binding transcription factor activity	g.chr4:88035995G>A	L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.1989G>A	4.37:g.88035995G>A						AFF1_uc011ccz.1_Silent_p.V670V|AFF1_uc003hqk.3_Silent_p.V663V|AFF1_uc011cda.1_Silent_p.V301V	p.V663V	NM_005935	NP_005926	P51825	AFF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000233)	11	2396	+		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)	663					B4DTU1|E9PBM3	Silent	SNP	ENST00000307808.6	37	c.1989G>A	CCDS3616.1																																																																																				0.607	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253053.3	NM_005935		8	34	0	0	0	0	8	34				
HSD17B11	51170	broad.mit.edu	37	4	88312141	88312141	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr4:88312141G>T	ENST00000358290.4	-	1	397	c.82C>A	c.(82-84)Cct>Act	p.P28T	HSD17B11_ENST00000507286.1_Missense_Mutation_p.P28T	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	28					androgen catabolic process (GO:0006710)|steroid biosynthetic process (GO:0006694)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|lipid particle (GO:0005811)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|steroid dehydrogenase activity (GO:0016229)			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		CTCCTCTTAGGAATAAAAAGC	0.468																																						uc003hqp.2		NA																	0				ovary(2)	2						c.(82-84)CCT>ACT		estradiol 17-beta-dehydrogenase 11							71.0	76.0	74.0					4																	88312141		2203	4300	6503	SO:0001583	missense	51170				androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity	g.chr4:88312141G>T	AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	22960	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 2"", ""short chain dehydrogenase/reductase family 16C, member 2"""	612831	"""dehydrogenase/reductase (SDR family) member 8"""	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.82C>A	4.37:g.88312141G>T	ENSP00000351035:p.Pro28Thr						p.P28T	NM_016245	NP_057329	Q8NBQ5	DHB11_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000339)	1	315	-		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)	28					Q96HF6|Q9UKU4	Missense_Mutation	SNP	ENST00000358290.4	37	c.82C>A	CCDS3619.1	.	.	.	.	.	.	.	.	.	.	G	32	5.105883	0.94292	.	.	ENSG00000198189	ENST00000358290;ENST00000507286	D;D	0.85556	-2.0;-1.77	5.98	5.98	0.97165	.	0.000000	0.64402	D	0.000001	D	0.93746	0.8001	M	0.88640	2.97	0.80722	D	1	D	0.71674	0.998	D	0.68621	0.959	D	0.93815	0.7113	10	0.66056	D	0.02	.	20.0538	0.97638	0.0:0.0:1.0:0.0	.	28	Q8NBQ5	DHB11_HUMAN	T	28	ENSP00000351035:P28T;ENSP00000423775:P28T	ENSP00000351035:P28T	P	-	1	0	HSD17B11	88531165	1.000000	0.71417	0.977000	0.42913	0.959000	0.62525	8.336000	0.90033	2.838000	0.97847	0.655000	0.94253	CCT		0.468	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253041.1	NM_016245		14	39	1	0	4.38e-07	4.91e-07	14	39				
FBXW7	55294	broad.mit.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	rs149680468		TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line). {ECO:0000269|PubMed:11565033, ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	uc003ims.2		NA		Rec	yes		4	4q31.3	55294	Mis|N|D|F	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			colorectal|endometrial|T-ALL		139	Substitution - Missense(138)|Unknown(1)	p.R505C(36)|p.R505L(6)|p.R505G(4)|p.R425C(2)|p.R425G(2)|p.R266G(2)|p.R505H(2)|p.R505S(1)|p.R505P(1)|p.R266C(1)	haematopoietic_and_lymphoid_tissue(44)|large_intestine(26)|endometrium(20)|urinary_tract(15)|lung(15)|upper_aerodigestive_tract(8)|skin(8)|ovary(2)|biliary_tract(1)	haematopoietic_and_lymphoid_tissue(125)|large_intestine(99)|stomach(16)|lung(14)|endometrium(13)|ovary(9)|biliary_tract(8)|upper_aerodigestive_tract(5)|central_nervous_system(3)|kidney(3)|skin(3)|pancreas(3)|breast(2)|prostate(2)|cervix(1)|NS(1)|bone(1)	308						c.(1513-1515)CGC>GGC		F-box and WD repeat domain containing 7 isoform							167.0	156.0	160.0					4																	153247289		2203	4300	6503	SO:0001583	missense	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleolus|nucleoplasm|nucleoplasm|SCF ubiquitin ligase complex	protein binding|protein binding	g.chr4:153247289G>C	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1513C>G	4.37:g.153247289G>C	ENSP00000281708:p.Arg505Gly					FBXW7_uc011cii.1_Missense_Mutation_p.R505G|FBXW7_uc003imt.2_Missense_Mutation_p.R505G|FBXW7_uc011cih.1_Missense_Mutation_p.R329G|FBXW7_uc003imq.2_Missense_Mutation_p.R425G|FBXW7_uc003imr.2_Missense_Mutation_p.R387G	p.R505G	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN			10	1662	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	505		R -> L (in an ovarian cancer cell line).	WD 4.		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1513C>G	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513685	0.64522	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.72	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101576	0.64402	D	0.000001	T	0.78679	0.4321	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.81858	-0.0739	10	0.87932	D	0	-12.0024	15.0746	0.72066	0.0681:0.0:0.9319:0.0	.	329;505;387;425	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	G	505;387;425;329	ENSP00000281708:R505G;ENSP00000296555:R387G;ENSP00000263981:R425G;ENSP00000377528:R329G	ENSP00000263981:R425G	R	-	1	0	FBXW7	153466739	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	9.772000	0.98984	1.559000	0.49555	-0.145000	0.13849	CGC		0.468	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			27	87	0	0	0	0	27	87				
GFRA3	2676	broad.mit.edu	37	5	137593489	137593489	+	Silent	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr5:137593489G>A	ENST00000274721.3	-	4	870	c.624C>T	c.(622-624)gcC>gcT	p.A208A	GFRA3_ENST00000378362.3_Silent_p.A177A	NM_001496.3	NP_001487.2	O60609	GFRA3_HUMAN	GDNF family receptor alpha 3	208					nervous system development (GO:0007399)|neuron migration (GO:0001764)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extrinsic component of membrane (GO:0019898)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	axon guidance receptor activity (GO:0008046)|receptor binding (GO:0005102)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CGTGGGGCTCGGCGGCCTTCT	0.726																																						uc003lcn.2		NA																	0				ovary(1)	1						c.(622-624)GCC>GCT		GDNF family receptor alpha 3 preproprotein							20.0	22.0	21.0					5																	137593489		2195	4286	6481	SO:0001819	synonymous_variant	2676				peripheral nervous system development	anchored to membrane|cytoplasm|extrinsic to membrane|intracellular membrane-bounded organelle	receptor binding	g.chr5:137593489G>A	AY358997	CCDS4201.1	5q31.1-q31.3	2008-02-05			ENSG00000146013	ENSG00000146013			4245	protein-coding gene	gene with protein product		605710				9407096	Standard	NM_001496		Approved	GFRa-3	uc003lcn.3	O60609	OTTHUMG00000129200	ENST00000274721.3:c.624C>T	5.37:g.137593489G>A						GFRA3_uc003lco.2_Silent_p.A177A	p.A208A	NM_001496	NP_001487	O60609	GFRA3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)		4	764	-			208					B2RA36|B4DMY9|Q6UW20|Q8IUZ2	Silent	SNP	ENST00000274721.3	37	c.624C>T	CCDS4201.1																																																																																				0.726	GFRA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251277.1	NM_001496		11	33	0	0	0	0	11	33				
KDM3B	51780	broad.mit.edu	37	5	137762666	137762666	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr5:137762666C>T	ENST00000314358.5	+	18	4614	c.4414C>T	c.(4414-4416)Cga>Tga	p.R1472*	KDM3B_ENST00000542866.1_Nonsense_Mutation_p.R504*|KDM3B_ENST00000394866.1_Nonsense_Mutation_p.R1128*	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	1472					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TCTTCCAGAACGACTACGGTC	0.463																																						uc003lcy.1		NA																	0				ovary(3)|upper_aerodigestive_tract(2)|lung(2)|kidney(2)|central_nervous_system(1)|skin(1)	11						c.(4414-4416)CGA>TGA		jumonji domain containing 1B							71.0	71.0	71.0					5																	137762666		2203	4300	6503	SO:0001587	stop_gained	51780				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr5:137762666C>T	AF251039	CCDS34242.1	5q31	2011-07-01	2009-04-06	2009-04-06	ENSG00000120733	ENSG00000120733		"""Chromatin-modifying enzymes / K-demethylases"""	1337	protein-coding gene	gene with protein product		609373	"""chromosome 5 open reading frame 7"", ""jumonji domain containing 1B"""	C5orf7, JMJD1B		15138608	Standard	NM_016604		Approved	KIAA1082, NET22	uc003lcy.1	Q7LBC6	OTTHUMG00000163469	ENST00000314358.5:c.4414C>T	5.37:g.137762666C>T	ENSP00000326563:p.Arg1472*					KDM3B_uc010jew.1_Nonsense_Mutation_p.R1128*|KDM3B_uc011cys.1_Nonsense_Mutation_p.R504*	p.R1472*	NM_016604	NP_057688	Q7LBC6	KDM3B_HUMAN			18	4614	+			1472					A6H8X7|Q9BVH6|Q9BW93|Q9BZ52|Q9NYF4|Q9UPS0	Nonsense_Mutation	SNP	ENST00000314358.5	37	c.4414C>T	CCDS34242.1	.	.	.	.	.	.	.	.	.	.	C	40	8.364078	0.98779	.	.	ENSG00000120733	ENST00000314358;ENST00000545151;ENST00000394866;ENST00000542866	.	.	.	5.33	3.23	0.37069	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.5087	13.149	0.59478	0.5021:0.4979:0.0:0.0	.	.	.	.	X	1472;1262;1128;504	.	ENSP00000326563:R1472X	R	+	1	2	KDM3B	137790565	1.000000	0.71417	0.992000	0.48379	0.980000	0.70556	3.203000	0.51075	0.359000	0.24239	0.655000	0.94253	CGA		0.463	KDM3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373597.1	NM_016604		8	28	0	0	0	0	8	28				
PCDHA8	56140	broad.mit.edu	37	5	140220964	140220964	+	Missense_Mutation	SNP	C	C	T	rs577075342	byFrequency	TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr5:140220964C>T	ENST00000531613.1	+	1	58	c.58C>T	c.(58-60)Ctc>Ttc	p.L20F	PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000378123.3_Missense_Mutation_p.L20F|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018911.2	NP_061734.1	Q9Y5H6	PCDA8_HUMAN	protocadherin alpha 8	20					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.L20F(1)		NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTGCTTCTGCTCCTCGCAGC	0.547																																						uc003lhs.2		NA																	1	Substitution - Missense(1)	p.L20F(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(58-60)CTC>TTC		protocadherin alpha 8 isoform 1 precursor							68.0	71.0	70.0					5																	140220964		2203	4299	6502	SO:0001583	missense	56140				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140220964C>T	AF152486	CCDS54919.1	5q31	2010-11-26				ENSG00000204962		"""Cadherins / Protocadherins : Clustered"""	8674	other	complex locus constituent	"""KIAA0345-like 6"""	606314				10380929	Standard	NM_018911		Approved			Q9Y5H6		ENST00000531613.1:c.58C>T	5.37:g.140220964C>T	ENSP00000434655:p.Leu20Phe					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Missense_Mutation_p.L20F	p.L20F	NM_018911	NP_061734	Q9Y5H6	PCDA8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	58	+			20					B9EGT7|O75281	Missense_Mutation	SNP	ENST00000531613.1	37	c.58C>T	CCDS54919.1	.	.	.	.	.	.	.	.	.	.	C	9.353	1.066048	0.20067	.	.	ENSG00000204962	ENST00000531613;ENST00000378123	T;T	0.55930	0.51;0.49	4.1	0.0881	0.14453	.	0.254272	0.20198	U	0.097144	T	0.39911	0.1096	L	0.45285	1.41	0.22401	N	0.999138	B;B	0.17038	0.012;0.02	B;B	0.26770	0.027;0.073	T	0.30504	-0.9976	10	0.48119	T	0.1	.	5.3325	0.15940	0.1409:0.6209:0.0:0.2382	.	20;20	Q9Y5H6;Q9Y5H6-2	PCDA8_HUMAN;.	F	20	ENSP00000434655:L20F;ENSP00000367363:L20F	ENSP00000367363:L20F	L	+	1	0	PCDHA8	140201148	0.000000	0.05858	0.001000	0.08648	0.020000	0.10135	-0.805000	0.04530	-0.255000	0.09486	-0.259000	0.10710	CTC		0.547	PCDHA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372830.2	NM_018911		13	85	0	0	0	0	13	85				
PCDHB7	56129	broad.mit.edu	37	5	140553798	140553798	+	Missense_Mutation	SNP	G	G	A	rs137953621		TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr5:140553798G>A	ENST00000231137.3	+	1	1556	c.1382G>A	c.(1381-1383)cGt>cAt	p.R461H		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	461	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGTTTGTCCGTGAGAACAAC	0.607																																						uc003lit.2		NA																	0				ovary(4)|central_nervous_system(1)|skin(1)	6						c.(1381-1383)CGT>CAT		protocadherin beta 7 precursor							133.0	128.0	130.0					5																	140553798		2203	4300	6503	SO:0001583	missense	56129				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140553798G>A	AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1382G>A	5.37:g.140553798G>A	ENSP00000231137:p.Arg461His						p.R461H	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1556	+			461			Extracellular (Potential).|Cadherin 5.		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	c.1382G>A	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	g	3.472	-0.107731	0.06924	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.01767	4.65	4.44	0.00156	0.14046	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.02156	0.0067	L	0.50919	1.6	0.09310	N	1	B	0.24368	0.102	B	0.21708	0.036	T	0.41395	-0.9511	9	0.37606	T	0.19	.	7.6441	0.28311	0.1968:0.5072:0.2959:0.0	.	461	Q9Y5E2	PCDB7_HUMAN	H	461;244	ENSP00000231137:R461H	ENSP00000231137:R461H	R	+	2	0	PCDHB7	140533982	0.000000	0.05858	0.025000	0.17156	0.231000	0.25187	-2.312000	0.01127	0.063000	0.16370	-0.319000	0.08680	CGT		0.607	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2	NM_018940		18	85	0	0	0	0	18	85				
GCM2	9247	broad.mit.edu	37	6	10877388	10877388	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr6:10877388G>A	ENST00000379491.4	-	2	475	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	110			R -> W (in FIH; abolishes DNA binding ability). {ECO:0000269|PubMed:20190276, ECO:0000269|Ref.3}.		cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TGTTTCAGCCGTGCCTTGTCG	0.562																																						uc003mzn.3		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(328-330)CGG>TGG		glial cells missing homolog 2							83.0	78.0	80.0					6																	10877388		2203	4300	6503	SO:0001583	missense	9247				cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding	g.chr6:10877388G>A	AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"""glial cells missing (Drosophila) homolog b"""	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.328C>T	6.37:g.10877388G>A	ENSP00000368805:p.Arg110Trp					SYCP2L_uc011dim.1_Intron	p.R110W	NM_004752	NP_004743	O75603	GCM2_HUMAN			2	400	-	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	110		R -> W (in FIH; abolishes DNA binding ability).	GCM.		D3GDV6|Q5THN5	Missense_Mutation	SNP	ENST00000379491.4	37	c.328C>T	CCDS4517.1	.	.	.	.	.	.	.	.	.	.	G	18.18	3.566565	0.65651	.	.	ENSG00000124827	ENST00000379491	T	0.80994	-1.44	5.69	-5.0	0.03001	.	0.000000	0.85682	D	0.000000	D	0.87204	0.6119	M	0.84585	2.705	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88860	0.3325	10	0.87932	D	0	-21.0508	20.752	0.99720	0.0:0.0:0.2563:0.7437	.	110	O75603	GCM2_HUMAN	W	110	ENSP00000368805:R110W	ENSP00000368805:R110W	R	-	1	2	GCM2	10985374	0.973000	0.33851	0.001000	0.08648	0.840000	0.47671	1.664000	0.37439	-0.950000	0.03659	-0.175000	0.13238	CGG		0.562	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039844.1			15	81	0	0	0	0	15	81				
HIST1H2BD	3017	broad.mit.edu	37	6	26158692	26158692	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr6:26158692G>C	ENST00000289316.2	+	1	319	c.295G>C	c.(295-297)Gtg>Ctg	p.V99L	HIST1H2BD_ENST00000377777.4_Missense_Mutation_p.V99L	NM_138720.2	NP_619790.1	P58876	H2B1D_HUMAN	histone cluster 1, H2bd	99					chromatin organization (GO:0006325)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	24						CCAGACGGCCGTGCGCCTGCT	0.617																																						uc003ngr.2		NA																	0				ovary(1)|pancreas(1)	2						c.(295-297)GTG>CTG		histone cluster 1, H2bd							78.0	86.0	83.0					6																	26158692		2203	4300	6503	SO:0001583	missense	3017				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26158692G>C	M60751	CCDS4587.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000158373	ENSG00000158373		"""Histones / Replication-dependent"""	4747	protein-coding gene	gene with protein product		602799	"""H2B histone family, member B"", ""histone 1, H2bd"""	H2BFB		1916825, 12408966	Standard	NM_021063		Approved	H2B/b	uc003ngr.3	P58876	OTTHUMG00000014426	ENST00000289316.2:c.295G>C	6.37:g.26158692G>C	ENSP00000289316:p.Val99Leu					HIST1H2BD_uc003ngs.2_Missense_Mutation_p.V99L	p.V99L	NM_021063	NP_066407	P58876	H2B1D_HUMAN			1	344	+			99						Missense_Mutation	SNP	ENST00000289316.2	37	c.295G>C	CCDS4587.1	.	.	.	.	.	.	.	.	.	.	.	14.96	2.690768	0.48097	.	.	ENSG00000158373	ENST00000377777;ENST00000289316	T;T	0.41065	1.01;1.01	4.96	4.08	0.47627	Histone-fold (2);Histone core (1);	0.000000	0.47852	D	0.000220	T	0.39911	0.1096	H	0.94264	3.515	0.39497	D	0.968131	B	0.06786	0.001	B	0.12156	0.007	T	0.52087	-0.8622	10	0.46703	T	0.11	.	10.7802	0.46374	0.166:0.0:0.834:0.0	.	99	P58876	H2B1D_HUMAN	L	99	ENSP00000367008:V99L;ENSP00000289316:V99L	ENSP00000289316:V99L	V	+	1	0	HIST1H2BD	26266671	1.000000	0.71417	0.997000	0.53966	0.384000	0.30261	3.845000	0.55880	1.396000	0.46663	0.650000	0.86243	GTG		0.617	HIST1H2BD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040088.1	NM_021063		20	94	0	0	0	0	20	94				
HIST1H2BJ	8970	broad.mit.edu	37	6	27100520	27100520	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr6:27100520G>T	ENST00000607124.1	-	1	9	c.10C>A	c.(10-12)Cca>Aca	p.P4T	HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.P4T|HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.P4T|HIST1H2AG_ENST00000359193.2_5'Flank			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	4					antibacterial humoral response (GO:0019731)|chromatin organization (GO:0006325)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|nucleosome assembly (GO:0006334)	extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						GACTTCGCTGGCTCTGGCATA	0.527																																						uc003niv.2		NA																	0					0						c.(10-12)CCA>ACA		histone cluster 1, H2bj							56.0	58.0	57.0					6																	27100520		2203	4300	6503	SO:0001583	missense	8970				defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27100520G>T	X00088	CCDS4618.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000124635	ENSG00000124635		"""Histones / Replication-dependent"""	4761	protein-coding gene	gene with protein product		615044	"""H2B histone family, member R"", ""histone 1, H2bj"""	H2BFR		6647026, 12408966	Standard	NM_021058		Approved	H2B/r	uc003niv.3	P06899	OTTHUMG00000014470	ENST00000607124.1:c.10C>A	6.37:g.27100520G>T	ENSP00000476136:p.Pro4Thr					HIST1H2BJ_uc003niu.1_RNA|HIST1H2AG_uc003niw.2_5'Flank	p.P4T	NM_021058	NP_066402	P06899	H2B1J_HUMAN			1	56	-			4					B2R4J4|O60816	Missense_Mutation	SNP	ENST00000607124.1	37	c.10C>A	CCDS4618.1	.	.	.	.	.	.	.	.	.	.	G	13.50	2.254993	0.39896	.	.	ENSG00000124635	ENST00000541790;ENST00000339812	T;T	0.18657	2.2;2.2	4.27	3.39	0.38822	Histone-fold (1);	.	.	.	.	T	0.10981	0.0268	M	0.67953	2.075	0.24652	N	0.993512	B	0.09022	0.002	B	0.04013	0.001	T	0.19745	-1.0296	9	0.39692	T	0.17	.	12.6251	0.56626	0.0:0.1686:0.8314:0.0	.	4	P06899	H2B1J_HUMAN	T	4	ENSP00000445633:P4T;ENSP00000342886:P4T	ENSP00000342886:P4T	P	-	1	0	HIST1H2BJ	27208499	0.998000	0.40836	0.040000	0.18447	0.045000	0.14185	2.397000	0.44477	1.100000	0.41517	0.655000	0.94253	CCA		0.527	HIST1H2BJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040138.2	NM_021058		10	63	1	0	2.18e-05	2.39e-05	10	63				
PKHD1	5314	broad.mit.edu	37	6	51907774	51907774	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr6:51907774G>A	ENST00000371117.3	-	27	3255	c.2980C>T	c.(2980-2982)Cgg>Tgg	p.R994W	PKHD1_ENST00000340994.4_Missense_Mutation_p.R994W	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	994	IPT/TIG 4.				cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.R994W(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATCAAGATCCGATGCATTCCA	0.453																																						uc003pah.1		NA																	1	Substitution - Missense(1)	p.R994W(1)	upper_aerodigestive_tract(1)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(2980-2982)CGG>TGG		fibrocystin isoform 1							125.0	118.0	120.0					6																	51907774		2203	4299	6502	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51907774G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.2980C>T	6.37:g.51907774G>A	ENSP00000360158:p.Arg994Trp					PKHD1_uc003pai.2_Missense_Mutation_p.R994W	p.R994W	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			27	3256	-	Lung NSC(77;0.0605)		994			IPT/TIG 4.|Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.2980C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	16.21	3.059424	0.55325	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.77489	-1.1;-1.1	5.98	5.12	0.69794	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.805704	0.11717	N	0.536333	T	0.74152	0.3679	L	0.47716	1.5	0.21915	N	0.999472	D;D	0.71674	0.998;0.998	P;P	0.57244	0.613;0.816	T	0.67856	-0.5562	10	0.66056	D	0.02	.	12.3472	0.55128	0.0781:0.0:0.9219:0.0	.	994;994	P08F94-2;P08F94	.;PKHD1_HUMAN	W	994	ENSP00000360158:R994W;ENSP00000341097:R994W	ENSP00000341097:R994W	R	-	1	2	PKHD1	52015733	0.766000	0.28496	0.314000	0.25224	0.495000	0.33615	1.031000	0.30165	1.563000	0.49615	-0.145000	0.13849	CGG		0.453	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		17	63	0	0	0	0	17	63				
COX7A2	1347	broad.mit.edu	37	6	75950913	75950913	+	Silent	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr6:75950913C>T	ENST00000230459.4	-	2	280	c.87G>A	c.(85-87)ccG>ccA	p.P29P	COX7A2_ENST00000370089.2_Silent_p.P61P|COX7A2_ENST00000460985.1_Intron|COX7A2_ENST00000509698.1_Silent_p.P29P|COX7A2_ENST00000370081.2_Silent_p.P61P|COX7A2_ENST00000472311.2_Silent_p.P29P	NM_001865.3	NP_001856.2	P14406	CX7A2_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 2 (liver)	29						extracellular vesicular exosome (GO:0070062)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			kidney(2)|lung(1)	3						TTTGCTTCTCCGGAACTTTAT	0.348																																						uc003phv.1		NA																	0					0						c.(85-87)CCG>CCA		cytochrome c oxidase subunit VIIa polypeptide 2							107.0	124.0	118.0					6																	75950913		2203	4300	6503	SO:0001819	synonymous_variant	1347					mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity	g.chr6:75950913C>T	X15822	CCDS34486.1, CCDS34486.2	6q14.1	2011-07-04			ENSG00000112695	ENSG00000112695	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2288	protein-coding gene	gene with protein product		123996				1327965, 9202412	Standard	NM_001865		Approved	COXVIIa-L, COX7AL	uc003phv.2	P14406	OTTHUMG00000015049	ENST00000230459.4:c.87G>A	6.37:g.75950913C>T							p.P29P	NM_001865	NP_001856	P14406	CX7A2_HUMAN			2	162	-			29					B2R5E1|Q3MIH5|Q5TF59|Q6FGI2	Silent	SNP	ENST00000230459.4	37	c.87G>A																																																																																					0.348	COX7A2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001865		30	143	0	0	0	0	30	143				
EPHA7	2045	broad.mit.edu	37	6	93967961	93967961	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr6:93967961C>A	ENST00000369303.4	-	11	2150	c.1966G>T	c.(1966-1968)Ggg>Tgg	p.G656W		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	656	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|branching morphogenesis of a nerve (GO:0048755)|ephrin receptor signaling pathway (GO:0048013)|negative chemotaxis (GO:0050919)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cell-cell adhesion (GO:0022407)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of protein autophosphorylation (GO:0031952)|retinal ganglion cell axon guidance (GO:0031290)	dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|chemorepellent activity (GO:0045499)|GPI-linked ephrin receptor activity (GO:0005004)|protein tyrosine kinase activity (GO:0004713)	p.G656W(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TCTCTTTTCCCTGGAAGTTTC	0.383																																						uc003poe.2		NA																	1	Substitution - Missense(1)	p.G656W(1)	upper_aerodigestive_tract(1)	lung(8)|ovary(7)|upper_aerodigestive_tract(3)|central_nervous_system(3)|skin(3)|large_intestine(2)|stomach(1)|pancreas(1)	28						c.(1966-1968)GGG>TGG		ephrin receptor EphA7 precursor							109.0	118.0	115.0					6																	93967961		2203	4300	6503	SO:0001583	missense	2045					integral to plasma membrane	ATP binding|ephrin receptor activity	g.chr6:93967961C>A	L36642	CCDS5031.1, CCDS75494.1	6q16.3	2013-02-11	2004-10-28		ENSG00000135333	ENSG00000135333		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3390	protein-coding gene	gene with protein product		602190	"""EphA7"""			9267020	Standard	NM_004440		Approved	Hek11	uc003poe.3	Q15375	OTTHUMG00000015228	ENST00000369303.4:c.1966G>T	6.37:g.93967961C>A	ENSP00000358309:p.Gly656Trp					EPHA7_uc003pof.2_Missense_Mutation_p.G651W|EPHA7_uc011eac.1_Missense_Mutation_p.G652W	p.G656W	NM_004440	NP_004431	Q15375	EPHA7_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0847)	11	2207	-		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)	656			Cytoplasmic (Potential).|Protein kinase.		A0AUX7|B2R8W1|B7ZLJ9|B7ZLK0|Q59G40|Q5VTU0|Q8N368|Q9H124	Missense_Mutation	SNP	ENST00000369303.4	37	c.1966G>T	CCDS5031.1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.981192	0.93044	.	.	ENSG00000135333	ENST00000369303	T	0.70045	-0.45	6.08	6.08	0.98989	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.82157	0.4976	M	0.82056	2.57	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.995;0.998;0.999	T	0.82564	-0.0394	10	0.87932	D	0	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	652;651;656	Q15375-4;Q15375-2;Q15375	.;.;EPHA7_HUMAN	W	656	ENSP00000358309:G656W	ENSP00000358309:G656W	G	-	1	0	EPHA7	94024682	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.818000	0.86416	2.894000	0.99253	0.591000	0.81541	GGG		0.383	EPHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041545.1			20	79	1	0	3.84e-06	4.24e-06	20	79				
UTRN	7402	broad.mit.edu	37	6	145021235	145021235	+	Silent	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr6:145021235G>A	ENST00000367545.3	+	52	7665	c.7665G>A	c.(7663-7665)gaG>gaA	p.E2555E	UTRN_ENST00000367526.4_Silent_p.E110E	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2555					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCCATTTGGAGGCCAGCGCTG	0.353																																						uc003qkt.2		NA																	0				ovary(4)|pancreas(1)	5						c.(7663-7665)GAG>GAA		utrophin							63.0	65.0	64.0					6																	145021235		2203	4300	6503	SO:0001819	synonymous_variant	7402				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding	g.chr6:145021235G>A	AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.7665G>A	6.37:g.145021235G>A							p.E2555E	NM_007124	NP_009055	P46939	UTRO_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)	52	7757	+		Ovarian(120;0.218)	2555			Spectrin 17.		Q5SYY1|Q5SZ57|Q9UJ40	Silent	SNP	ENST00000367545.3	37	c.7665G>A	CCDS34547.1																																																																																				0.353	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			9	47	0	0	0	0	9	47				
CFAP69	79846	broad.mit.edu	37	7	89915651	89915651	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr7:89915651G>T	ENST00000389297.4	+	14	1845	c.1594G>T	c.(1594-1596)Gaa>Taa	p.E532*	C7orf63_ENST00000497910.1_Nonsense_Mutation_p.E514*|C7orf63_ENST00000316089.8_Nonsense_Mutation_p.E532*	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		532										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						CATTGTTTTGGAAATCCAGTC	0.348																																						uc010lep.2		NA																	0				ovary(1)	1						c.(1594-1596)GAA>TAA		hypothetical protein LOC79846 isoform 1							119.0	113.0	115.0					7																	89915651		1818	4073	5891	SO:0001587	stop_gained	79846						binding	g.chr7:89915651G>T																												ENST00000389297.4:c.1594G>T	7.37:g.89915651G>T	ENSP00000373948:p.Glu532*					C7orf63_uc003ukf.2_RNA|C7orf63_uc003ukg.2_Nonsense_Mutation_p.E207*|C7orf63_uc011khj.1_Nonsense_Mutation_p.E514*|C7orf63_uc011khk.1_Nonsense_Mutation_p.E94*	p.E532*	NM_001039706	NP_001034795	A5D8W1	CG063_HUMAN			14	1845	+			532					A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Nonsense_Mutation	SNP	ENST00000389297.4	37	c.1594G>T	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	G	22.9	4.345875	0.82022	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000457170;ENST00000449577	.	.	.	5.49	5.49	0.81192	.	0.051592	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-17.0532	19.3752	0.94505	0.0:0.0:1.0:0.0	.	.	.	.	X	532;532;514;415;115	.	ENSP00000321753:E532X	E	+	1	0	C7orf63	89753587	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.754000	0.85163	2.576000	0.86940	0.591000	0.81541	GAA		0.348	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4			13	63	1	0	4.38e-07	4.91e-07	13	63				
SRPK2	6733	broad.mit.edu	37	7	104801043	104801043	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr7:104801043C>A	ENST00000393651.3	-	7	619	c.532G>T	c.(532-534)Gaa>Taa	p.E178*	SRPK2_ENST00000489828.1_Nonsense_Mutation_p.E167*|SRPK2_ENST00000357311.3_Nonsense_Mutation_p.E167*	NM_182692.1	NP_872634.1			SRSF protein kinase 2									p.E167*(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						CCAAGTACTTCGAAGACCATG	0.473																																						uc003vct.2		NA																	1	Substitution - Nonsense(1)	p.E167*(1)	upper_aerodigestive_tract(1)	central_nervous_system(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(499-501)GAA>TAA		serine/arginine-rich protein-specific kinase 2							198.0	155.0	169.0					7																	104801043		2203	4300	6503	SO:0001587	stop_gained	6733				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity	g.chr7:104801043C>A	U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.532G>T	7.37:g.104801043C>A	ENSP00000377262:p.Glu178*					SRPK2_uc003vcu.2_Nonsense_Mutation_p.E167*|SRPK2_uc003vcv.2_Nonsense_Mutation_p.E178*|SRPK2_uc003vcw.1_Nonsense_Mutation_p.E167*	p.E167*	NM_182691	NP_872633	P78362	SRPK2_HUMAN			6	686	-			167			Protein kinase.			Nonsense_Mutation	SNP	ENST00000393651.3	37	c.499G>T	CCDS34724.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.263095	0.80358	.	.	ENSG00000135250	ENST00000393651;ENST00000357311;ENST00000489828;ENST00000482897	.	.	.	5.81	5.81	0.92471	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-24.2527	20.0833	0.97789	0.0:1.0:0.0:0.0	.	.	.	.	X	178;167;167;215	.	ENSP00000349863:E167X	E	-	1	0	SRPK2	104588279	1.000000	0.71417	0.977000	0.42913	0.910000	0.53928	7.776000	0.85560	2.756000	0.94617	0.655000	0.94253	GAA		0.473	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348723.1	NM_182691		9	26	1	0	1.77e-08	2.05e-08	9	26				
ZNF467	168544	broad.mit.edu	37	7	149461821	149461821	+	Silent	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr7:149461821C>T	ENST00000302017.3	-	5	2183	c.1770G>A	c.(1768-1770)ccG>ccA	p.P590P	ZNF467_ENST00000484747.1_Intron	NM_207336.1	NP_997219.1	Q7Z7K2	ZN467_HUMAN	zinc finger protein 467	590					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1)	13	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGAGCGGGGGCGGCGCCACCT	0.701																																						uc003wgd.2		NA																	0					0						c.(1768-1770)CCG>CCA		zinc finger protein 467							6.0	8.0	7.0					7																	149461821		1928	3936	5864	SO:0001819	synonymous_variant	168544				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:149461821C>T	BC029296	CCDS5899.1	7q36.1	2013-01-08			ENSG00000181444	ENSG00000181444		"""Zinc fingers, C2H2-type"""	23154	protein-coding gene	gene with protein product		614040				12426389	Standard	NM_207336		Approved	EZI, Zfp467	uc003wgd.2	Q7Z7K2	OTTHUMG00000157883	ENST00000302017.3:c.1770G>A	7.37:g.149461821C>T						ZNF467_uc003wgc.2_Intron	p.P590P	NM_207336	NP_997219	Q7Z7K2	ZN467_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		5	1911	-	Melanoma(164;0.165)|Ovarian(565;0.177)		590						Silent	SNP	ENST00000302017.3	37	c.1770G>A	CCDS5899.1																																																																																				0.701	ZNF467-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349833.1	NM_207336		4	14	0	0	0	0	4	14				
GPR20	2843	broad.mit.edu	37	8	142367698	142367698	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr8:142367698C>T	ENST00000377741.3	-	2	416	c.326G>A	c.(325-327)cGc>cAc	p.R109H	CTD-3064M3.3_ENST00000562459.1_RNA	NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	109					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)	p.R109H(1)		NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CACAGCGAAGCGCGTGGGCAG	0.617																																						uc003ywf.2		NA																	1	Substitution - Missense(1)	p.R109H(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)	1						c.(325-327)CGC>CAC		G protein-coupled receptor 20							96.0	97.0	96.0					8																	142367698		2203	4300	6503	SO:0001583	missense	2843					integral to plasma membrane	G-protein coupled receptor activity	g.chr8:142367698C>T	U66579	CCDS34949.1	8q24.3	2012-08-21				ENSG00000204882		"""GPCR / Class A : Orphans"""	4475	protein-coding gene	gene with protein product		601908				18347022	Standard	NM_005293		Approved		uc003ywf.3	Q99678		ENST00000377741.3:c.326G>A	8.37:g.142367698C>T	ENSP00000366970:p.Arg109His						p.R109H	NM_005293	NP_005284	Q99678	GPR20_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0415)		2	415	-	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		109			Extracellular (Potential).		Q17R96	Missense_Mutation	SNP	ENST00000377741.3	37	c.326G>A	CCDS34949.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.130089	0.77549	.	.	ENSG00000204882	ENST00000377741	T	0.72167	-0.63	4.62	3.75	0.43078	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.83557	0.5280	M	0.83603	2.65	0.45502	D	0.998467	D	0.89917	1.0	D	0.91635	0.999	D	0.84758	0.0760	10	0.62326	D	0.03	-33.8725	11.8996	0.52675	0.0:0.9143:0.0:0.0857	.	109	Q99678	GPR20_HUMAN	H	109	ENSP00000366970:R109H	ENSP00000366970:R109H	R	-	2	0	GPR20	142436880	1.000000	0.71417	0.996000	0.52242	0.680000	0.39746	2.007000	0.40883	0.949000	0.37715	0.561000	0.74099	CGC		0.617	GPR20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378968.1	NM_005293		16	48	0	0	0	0	16	48				
CDKN2A	1029	broad.mit.edu	37	9	21971000	21971000	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr9:21971000C>A	ENST00000304494.5	-	2	628	c.358G>T	c.(358-360)Gag>Tag	p.E120*	CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000579755.1_3'UTR|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.E69*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.E120*|CDKN2A_ENST00000530628.2_3'UTR|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.E69*|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	120			E -> A (in non-small cell lung carcinoma). {ECO:0000269|PubMed:8060323}.|E -> K (in non-small cell lung carcinoma). {ECO:0000269|PubMed:8060323}.		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(13)|p.E120*(9)|p.E120K(4)|p.0(1)|p.A118fs*10(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGGCCCAGCTCCTCAGCCAGG	0.726		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																												uc003zpk.2		17																	1343	Whole gene deletion(1316)|Unknown(13)|Substitution - Nonsense(9)|Substitution - Missense(4)|Deletion - Frameshift(1)	p.0?(1112)|p.?(13)|p.E120*(8)|p.E120K(4)|p.E120A(1)|p.A118fs*10(1)	haematopoietic_and_lymphoid_tissue(278)|skin(168)|central_nervous_system(164)|lung(150)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|upper_aerodigestive_tract(50)|oesophagus(49)|ovary(34)|kidney(30)|pancreas(30)|breast(30)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|meninges(7)|large_intestine(6)|liver(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	haematopoietic_and_lymphoid_tissue(647)|skin(419)|upper_aerodigestive_tract(414)|central_nervous_system(381)|lung(325)|pancreas(244)|oesophagus(230)|urinary_tract(225)|pleura(94)|liver(91)|soft_tissue(79)|bone(77)|ovary(76)|biliary_tract(71)|stomach(46)|breast(46)|kidney(39)|NS(28)|thyroid(24)|cervix(23)|meninges(18)|genital_tract(15)|endometrium(13)|prostate(11)|autonomic_ganglia(10)|salivary_gland(10)|large_intestine(9)|adrenal_gland(6)|eye(4)|vulva(2)|small_intestine(1)	3678	GRCh37	CD972119	CDKN2A	D		c.(358-360)GAG>TAG		cyclin-dependent kinase inhibitor 2A isoform 1							24.0	27.0	26.0					9																	21971000		2202	4298	6500	SO:0001587	stop_gained	1029	Uveal_Melanoma_Familial|Familial_Malignant_Melanoma_and_Tumors_of_the_Nervous_System|Hereditary_Melanoma			cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein binding|protein kinase binding	g.chr9:21971000C>A	L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.358G>T	9.37:g.21971000C>A	ENSP00000307101:p.Glu120*	HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)				MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.2_3'UTR|CDKN2A_uc010miu.2_RNA|CDKN2A_uc003zpl.2_3'UTR	p.E120*	NM_000077	NP_000068	P42771	CD2A1_HUMAN		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)	2	570	-		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)	120		E -> A (in non-small cell lung carcinoma).|E -> K (in non-small cell lung carcinoma).	ANK 4.		A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Nonsense_Mutation	SNP	ENST00000304494.5	37	c.358G>T	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	37	6.320898	0.97471	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	.	.	.	5.93	5.03	0.67393	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-15.0988	14.364	0.66792	0.0:0.8518:0.1482:0.0	.	.	.	.	X	120	.	ENSP00000307101:E120X	E	-	1	0	CDKN2A	21961000	0.585000	0.26774	1.000000	0.80357	0.613000	0.37349	1.323000	0.33701	1.489000	0.48450	0.655000	0.94253	GAG		0.726	CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077		8	21	1	0	0.00829132	0.00881656	8	21				
SLC28A3	64078	broad.mit.edu	37	9	86905135	86905135	+	Silent	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr9:86905135G>A	ENST00000376238.4	-	11	1132	c.1083C>T	c.(1081-1083)caC>caT	p.H361H	SLC28A3_ENST00000537648.1_Silent_p.H292H|RP11-380F14.2_ENST00000419815.1_RNA	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	361					pyrimidine nucleoside transport (GO:0015864)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside binding (GO:0001882)|purine-specific nucleoside:sodium symporter activity (GO:0015390)|pyrimidine- and adenine-specific:sodium symporter activity (GO:0015389)			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31					Adenosine(DB00640)|Cladribine(DB00242)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Mercaptopurine(DB01033)|Ribavirin(DB00811)	TCATGATGGCGTGGAGTTCAG	0.463																																					Ovarian(106;425 1539 34835 42413 43572)	uc010mpz.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|skin(1)	4						c.(1081-1083)CAC>CAT		concentrative Na+-nucleoside cotransporter							118.0	113.0	114.0					9																	86905135		2203	4300	6503	SO:0001819	synonymous_variant	64078				nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding	g.chr9:86905135G>A	AF305210	CCDS6670.1	9q21.33	2013-07-17	2013-07-17		ENSG00000197506	ENSG00000197506		"""Solute carriers"""	16484	protein-coding gene	gene with protein product		608269	"""solute carrier family 28 (sodium-coupled nucleoside transporter), member 3"""			11032837	Standard	NM_001199633		Approved	CNT3	uc010mpz.3	Q9HAS3	OTTHUMG00000020117	ENST00000376238.4:c.1083C>T	9.37:g.86905135G>A						SLC28A3_uc011lsy.1_Silent_p.H292H|SLC28A3_uc004anu.1_Silent_p.H361H	p.H361H	NM_022127	NP_071410	Q9HAS3	S28A3_HUMAN			11	1208	-			361			Extracellular (Potential).		A8K9Y4|B1AML0|B2RA51|B4E2S8|F5GYE3	Silent	SNP	ENST00000376238.4	37	c.1083C>T	CCDS6670.1																																																																																				0.463	SLC28A3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052874.1	NM_022127		12	50	0	0	0	0	12	50				
COL27A1	85301	broad.mit.edu	37	9	116930231	116930231	+	Silent	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr9:116930231C>T	ENST00000356083.3	+	3	787	c.396C>T	c.(394-396)ccC>ccT	p.P132P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	132	Laminin G-like.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						AGTTCCTCCCCGGCAAGACGG	0.682																																						uc011lxl.1		NA																	0				ovary(3)|skin(1)	4						c.(394-396)CCC>CCT		collagen, type XXVII, alpha 1 precursor							53.0	53.0	53.0					9																	116930231		2202	4300	6502	SO:0001819	synonymous_variant	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:116930231C>T	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.396C>T	9.37:g.116930231C>T						COL27A1_uc004bii.2_RNA|COL27A1_uc010mvd.1_5'UTR	p.P132P	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN			3	396	+			132			Laminin G-like.|TSP N-terminal.		Q66K43|Q96JF7	Silent	SNP	ENST00000356083.3	37	c.396C>T	CCDS6802.1																																																																																				0.682	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		26	69	0	0	0	0	26	69				
TTF1	7270	broad.mit.edu	37	9	135277682	135277682	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr9:135277682G>A	ENST00000334270.2	-	2	566	c.527C>T	c.(526-528)gCa>gTa	p.A176V		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	176	N-terminal region (NRD). {ECO:0000250}.				chromatin remodeling (GO:0006338)|DNA-templated transcription, termination (GO:0006353)|gene expression (GO:0010467)|negative regulation of DNA replication (GO:0008156)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.A176V(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		CTCCCAGGATGCAGCTTTCCT	0.493																																						uc004cbl.2		NA																	1	Substitution - Missense(1)	p.A176V(1)	upper_aerodigestive_tract(1)	ovary(2)|upper_aerodigestive_tract(1)|pancreas(1)	4						c.(526-528)GCA>GTA		transcription termination factor, RNA polymerase							48.0	45.0	46.0					9																	135277682		2203	4300	6503	SO:0001583	missense	7270				negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding	g.chr9:135277682G>A	BC050734	CCDS6948.1, CCDS75925.1	9q34.3	2008-02-05			ENSG00000125482	ENSG00000125482			12397	protein-coding gene	gene with protein product		600777				7597036	Standard	NM_007344		Approved		uc004cbl.3	Q15361	OTTHUMG00000020836	ENST00000334270.2:c.527C>T	9.37:g.135277682G>A	ENSP00000333920:p.Ala176Val					TTF1_uc011mcp.1_RNA|TTF1_uc004cbm.2_Intron	p.A176V	NM_007344	NP_031370	Q15361	TTF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)	2	579	-		Myeloproliferative disorder(178;0.204)	176			N-terminal region (NRD) (By similarity).		A1L160|Q4VXF3|Q58EY2|Q6P5T5	Missense_Mutation	SNP	ENST00000334270.2	37	c.527C>T	CCDS6948.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.718612	0.30503	.	.	ENSG00000125482	ENST00000334270;ENST00000245588	T	0.11495	2.77	4.85	1.39	0.22231	.	.	.	.	.	T	0.08582	0.0213	L	0.39898	1.24	0.09310	N	1	B	0.18013	0.025	B	0.14578	0.011	T	0.31364	-0.9946	9	0.41790	T	0.15	.	5.1258	0.14884	0.1022:0.0:0.4577:0.4401	.	176	Q15361	TTF1_HUMAN	V	176	ENSP00000333920:A176V	ENSP00000245588:A176V	A	-	2	0	TTF1	134267503	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.130000	0.10498	0.558000	0.29135	-0.136000	0.14681	GCA		0.493	TTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054784.2	NM_007344		16	31	0	0	0	0	16	31				
RXRA	6256	broad.mit.edu	37	9	137328348	137328348	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr9:137328348G>A	ENST00000481739.1	+	10	1329	c.1277G>A	c.(1276-1278)cGc>cAc	p.R426H	RXRA_ENST00000540193.1_Missense_Mutation_p.R329H|RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	426	Ligand-binding.				camera-type eye development (GO:0043010)|cardiac muscle cell proliferation (GO:0060038)|cellular lipid metabolic process (GO:0044255)|cholesterol metabolic process (GO:0008203)|embryo implantation (GO:0007566)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peroxisome proliferator activated receptor signaling pathway (GO:0035357)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein homotetramerization (GO:0051289)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|response to retinoic acid (GO:0032526)|retinoic acid receptor signaling pathway (GO:0048384)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|vitamin metabolic process (GO:0006766)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein heterodimerization activity (GO:0046982)|retinoic acid receptor activity (GO:0003708)|retinoic acid-responsive element binding (GO:0044323)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|vitamin D receptor binding (GO:0042809)|zinc ion binding (GO:0008270)	p.R426H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etodolac(DB00749)	CCGGCTCTGCGCTCCATCGGG	0.612																																						uc004cfb.2		NA																	1	Substitution - Missense(1)	p.R426H(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)|ovary(1)	2						c.(1276-1278)CGC>CAC		retinoid X receptor, alpha	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)						130.0	115.0	120.0					9																	137328348		2203	4300	6503	SO:0001583	missense	6256				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	g.chr9:137328348G>A	X52773	CCDS35172.1	9q34	2013-01-16			ENSG00000186350	ENSG00000186350		"""Nuclear hormone receptors"""	10477	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 1"""	180245				2159111	Standard	XM_005263409		Approved	NR2B1	uc004cfa.1	P19793	OTTHUMG00000020887	ENST00000481739.1:c.1277G>A	9.37:g.137328348G>A	ENSP00000419692:p.Arg426His					RXRA_uc004cfc.1_Missense_Mutation_p.R329H	p.R426H	NM_002957	NP_002948	P19793	RXRA_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	10	1439	+			426			Ligand-binding.		B3KY83|Q2NL52|Q2V504	Missense_Mutation	SNP	ENST00000481739.1	37	c.1277G>A	CCDS35172.1	.	.	.	.	.	.	.	.	.	.	G	24.8	4.566573	0.86439	.	.	ENSG00000186350	ENST00000481739;ENST00000540193	T;T	0.60424	0.19;0.19	4.76	2.93	0.34026	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.000000	0.85682	D	0.000000	T	0.80385	0.4613	H	0.94847	3.59	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82508	-0.0422	10	0.87932	D	0	.	10.7958	0.46459	0.1548:0.0:0.8452:0.0	.	426	P19793	RXRA_HUMAN	H	426;329	ENSP00000419692:R426H;ENSP00000442123:R329H	ENSP00000419692:R426H	R	+	2	0	RXRA	136468169	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.494000	0.97962	0.448000	0.26722	0.591000	0.81541	CGC		0.612	RXRA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054949.1	NM_002957		27	71	0	0	0	0	27	71				
NOTCH1	4851	broad.mit.edu	37	9	139413214	139413214	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr9:139413214C>T	ENST00000277541.6	-	6	1003	c.928G>A	c.(928-930)Ggg>Agg	p.G310R	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	310	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G310R(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGGCAGGTCCCGCCGTTCTGG	0.627			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												uc004chz.2		NA		Dom	yes		9	9q34.3	4851	T|Mis|O	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		2	Substitution - Missense(2)	p.G310R(2)	upper_aerodigestive_tract(2)	haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856						c.(928-930)GGG>AGG		notch1 preproprotein							41.0	52.0	48.0					9																	139413214		2200	4292	6492	SO:0001583	missense	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139413214C>T	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.928G>A	9.37:g.139413214C>T	ENSP00000277541:p.Gly310Arg	HNSCC(8;0.001)					p.G310R	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	6	928	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	310			Extracellular (Potential).|EGF-like 8; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.928G>A	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	34	5.301348	0.95601	.	.	ENSG00000148400	ENST00000277541	D	0.91521	-2.86	5.3	5.3	0.74995	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.96334	0.8804	M	0.91920	3.255	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.97142	0.9825	10	0.87932	D	0	.	17.5056	0.87745	0.0:1.0:0.0:0.0	.	310	P46531	NOTC1_HUMAN	R	310	ENSP00000277541:G310R	ENSP00000277541:G310R	G	-	1	0	NOTCH1	138533035	0.993000	0.37304	0.996000	0.52242	0.997000	0.91878	3.834000	0.55798	2.477000	0.83638	0.561000	0.74099	GGG		0.627	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		6	17	0	0	0	0	6	17				
MAGT1	84061	broad.mit.edu	37	X	77126359	77126359	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chrX:77126359G>C	ENST00000373336.3	-	3	365	c.336C>G	c.(334-336)aaC>aaG	p.N112K	MAGT1_ENST00000358075.6_Missense_Mutation_p.N144K			Q9H0U3	MAGT1_HUMAN	magnesium transporter 1	112	Thioredoxin.				cellular protein metabolic process (GO:0044267)|cognition (GO:0050890)|magnesium ion transport (GO:0015693)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)	magnesium ion transmembrane transporter activity (GO:0015095)	p.N112K(1)		cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						AAAATATCCTGTTGGTGAATG	0.363																																						uc004fof.2		NA																	1	Substitution - Missense(1)	p.N112K(1)	upper_aerodigestive_tract(1)	upper_aerodigestive_tract(1)	1						c.(430-432)AAC>AAG		magnesium transporter 1							124.0	108.0	113.0					X																	77126359		2203	4296	6499	SO:0001583	missense	84061				protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		g.chrX:77126359G>C		CCDS14436.2	Xq21.1	2014-09-17			ENSG00000102158	ENSG00000102158			28880	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 3 homolog B (S. cerevisiae)"""	300715				15804357	Standard	NM_032121		Approved	DKFZp564K142, IAP, OST3B, MRX95	uc004fof.3	Q9H0U3	OTTHUMG00000021882	ENST00000373336.3:c.336C>G	X.37:g.77126359G>C	ENSP00000362433:p.Asn112Lys					MAGT1_uc004fog.3_RNA|MAGT1_uc004ect.3_Missense_Mutation_p.N144K	p.N144K	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN			3	494	-			112					B2RAR4|D3DTE3|Q53G00|Q6P577|Q8NBN6	Missense_Mutation	SNP	ENST00000373336.3	37	c.432C>G		.	.	.	.	.	.	.	.	.	.	G	13.43	2.233554	0.39498	.	.	ENSG00000102158	ENST00000358075;ENST00000373336	T;T	0.20332	2.08;2.08	4.76	4.76	0.60689	Thioredoxin-like fold (2);	0.157867	0.53938	N	0.000047	T	0.21509	0.0518	L	0.58428	1.81	0.52099	D	0.999948	B;B	0.15719	0.003;0.014	B;B	0.14023	0.007;0.01	T	0.03840	-1.0999	10	0.22109	T	0.4	-0.9809	12.6426	0.56718	0.0856:0.0:0.9144:0.0	.	112;144	Q9H0U3;B4DH58	MAGT1_HUMAN;.	K	144;112	ENSP00000354649:N144K;ENSP00000362433:N112K	ENSP00000354649:N144K	N	-	3	2	MAGT1	77013015	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	0.759000	0.26461	1.959000	0.56917	0.464000	0.42555	AAC		0.363	MAGT1-002	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000057302.2	NM_032121		15	26	0	0	0	0	15	26				
WDR44	54521	broad.mit.edu	37	X	117575441	117575441	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chrX:117575441C>G	ENST00000254029.3	+	15	2480	c.2085C>G	c.(2083-2085)atC>atG	p.I695M	WDR44_ENST00000371822.5_Intron|WDR44_ENST00000371825.3_Missense_Mutation_p.I695M	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	695						endosome (GO:0005768)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)		p.I695M(2)		breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						CAAAATTGATCACAGCTGCAA	0.378																																						uc004eqn.2		NA																	2	Substitution - Missense(2)	p.I695M(2)	upper_aerodigestive_tract(2)	lung(2)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)	5						c.(2083-2085)ATC>ATG		WD repeat domain 44 protein							118.0	111.0	114.0					X																	117575441		2203	4300	6503	SO:0001583	missense	54521					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm		g.chrX:117575441C>G	AK001978	CCDS14572.1, CCDS55482.1, CCDS55483.1	Xq24	2013-01-09			ENSG00000131725	ENSG00000131725		"""WD repeat domain containing"""	30512	protein-coding gene	gene with protein product						12477932	Standard	NM_019045		Approved	DKFZp686L20145, RPH11, RAB11BP	uc004eqn.3	Q5JSH3	OTTHUMG00000022254	ENST00000254029.3:c.2085C>G	X.37:g.117575441C>G	ENSP00000254029:p.Ile695Met					WDR44_uc004eqo.2_Missense_Mutation_p.I695M|WDR44_uc011mtr.1_Intron|WDR44_uc010nqi.2_Missense_Mutation_p.I405M	p.I695M	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN			15	2510	+			695			WD 4.		B4DSE9|F8W913|Q0JS52|Q0JTF3|Q5JSH2|Q6ZSC1|Q7Z365|Q7Z3P6|Q8NAU8|Q8NHU5|Q9NUV4	Missense_Mutation	SNP	ENST00000254029.3	37	c.2085C>G	CCDS14572.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.10|16.10	3.027140|3.027140	0.54683|0.54683	.|.	.|.	ENSG00000131725|ENSG00000131725	ENST00000371848|ENST00000254029;ENST00000371825;ENST00000318919	.|D;D	.|0.83335	.|-1.71;-1.71	5.48|5.48	4.59|4.59	0.56863|0.56863	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	.|0.043320	.|0.85682	.|N	.|0.000000	D|D	0.91754|0.91754	0.7392|0.7392	M|M	0.93939|0.93939	3.475|3.475	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.91635	.|0.999;0.999;0.995	D|D	0.90967|0.90967	0.4817|0.4817	5|10	.|0.87932	.|D	.|0	-6.7779|-6.7779	6.1222|6.1222	0.20159|0.20159	0.0:0.6699:0.1608:0.1693|0.0:0.6699:0.1608:0.1693	.|.	.|695;695;695	.|E9PCI7;Q5JSH3-2;Q5JSH3	.|.;.;WDR44_HUMAN	D|M	595|695;695;81	.|ENSP00000254029:I695M;ENSP00000360890:I695M	.|ENSP00000254029:I695M	H|I	+|+	1|3	0|3	WDR44|WDR44	117459469|117459469	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.970000|0.970000	0.65996|0.65996	1.177000|1.177000	0.31969|0.31969	1.039000|1.039000	0.40074|0.40074	0.464000|0.464000	0.42555|0.42555	CAC|ATC		0.378	WDR44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058001.1	NM_019045		26	31	0	0	0	0	26	31				
HS3ST6	64711	broad.mit.edu	37	16	1961723	1961737	+	In_Frame_Del	DEL	GCGGGGACGGCTGCC	GCGGGGACGGCTGCC	-	rs79686696|rs546685760|rs61740580|rs61740582|rs372823212|rs550349791	byFrequency	TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr16:1961723_1961737delGCGGGGACGGCTGCC	ENST00000293937.3	-	2	882_896	c.883_897delGGCAGCCGTCCCCGC	c.(883-897)ggcagccgtccccgcdel	p.GSRPR295del	HS3ST6_ENST00000454677.2_In_Frame_Del_p.GSRPR312del|HS3ST6_ENST00000443547.1_In_Frame_Del_p.GSRPR264del			Q96QI5	HS3S6_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	295					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			endometrium(2)|lung(2)	4						TGCCCAGGCAGCGGGGACGGCTGCCGCCCTGGGCC	0.679																																						uc002cnf.2		NA																	0					0						c.(790-804)GGCAGCCGTCCCCGCdel		heparan sulfate (glucosamine)																																				SO:0001651	inframe_deletion	64711							g.chr16:1961723_1961737delGCGGGGACGGCTGCC			16p13.3	2008-10-30	2003-06-11	2003-06-13	ENSG00000162040	ENSG00000162040		"""Sulfotransferases, membrane-bound"""	14178	protein-coding gene	gene with protein product			"""heparan sulfate (glucosamine) 3-O-sulfotransferase 5"""	HS3ST5		11157797	Standard	NM_001009606		Approved		uc002cnf.3	Q96QI5	OTTHUMG00000047860	ENST00000293937.3:c.883_897delGGCAGCCGTCCCCGC	16.37:g.1961723_1961737delGCGGGGACGGCTGCC	ENSP00000293937:p.Gly295_Arg299del						p.GSRPR264del	NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN			2	790_804	-			264_268					Q96RX7	In_Frame_Del	DEL	ENST00000293937.3	37	c.790_804delGGCAGCCGTCCCCGC																																																																																					0.679	HS3ST6-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001009606		9	23	NA	NA	NA	NA	9	23	---	---	---	---
DYRK1B	9149	broad.mit.edu	37	19	40321135	40321137	+	In_Frame_Del	DEL	CTC	CTC	-			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr19:40321135_40321137delCTC	ENST00000593685.1	-	4	718_720	c.250_252delGAG	c.(250-252)gagdel	p.E84del	DYRK1B_ENST00000430012.2_In_Frame_Del_p.E84del|DYRK1B_ENST00000348817.3_In_Frame_Del_p.E84del|DYRK1B_ENST00000323039.5_In_Frame_Del_p.E84del|DYRK1B_ENST00000597639.1_In_Frame_Del_p.E84del|DYRK1B_ENST00000601972.1_In_Frame_Del_p.E84del			Q9Y463	DYR1B_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1B	84					adipose tissue development (GO:0060612)|myoblast fusion (GO:0007520)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(7)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	24	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)			GGACCTTCTTCTCCTTCTTGTTG	0.581																																						uc002omj.2		NA																	0				ovary(4)|stomach(1)|central_nervous_system(1)|skin(1)	7						c.(250-252)GAGdel		dual-specificity tyrosine-(Y)-phosphorylation																																				SO:0001651	inframe_deletion	9149				positive regulation of transcription, DNA-dependent	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|transcription coactivator activity	g.chr19:40321135_40321137delCTC	Y17999	CCDS12543.1, CCDS12544.1, CCDS46075.1	19q13.2	2012-10-02			ENSG00000105204	ENSG00000105204	2.7.12.1		3092	protein-coding gene	gene with protein product	"""minibrain-related kinase"""	604556				9918863	Standard	XM_005259395		Approved	MIRK	uc002omj.3	Q9Y463		ENST00000593685.1:c.250_252delGAG	19.37:g.40321135_40321137delCTC	ENSP00000469863:p.Glu84del					DYRK1B_uc002omi.2_In_Frame_Del_p.E84del|DYRK1B_uc002omk.2_In_Frame_Del_p.E84del|DYRK1B_uc002oml.2_In_Frame_Del_p.E84del	p.E84del	NM_004714	NP_004705	Q9Y463	DYR1B_HUMAN	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)		4	530_532	-	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)		84			Bipartite nuclear localization signal (Potential).		O75258|O75788|O75789	In_Frame_Del	DEL	ENST00000593685.1	37	c.250_252delGAG	CCDS12543.1																																																																																				0.581	DYRK1B-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462874.2	NM_004714		22	82	NA	NA	NA	NA	22	82	---	---	---	---
UBAP2	55833	broad.mit.edu	37	9	33923478	33923479	+	Splice_Site	INS	-	-	G	rs368852145		TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr9:33923478_33923479insG	ENST00000379238.1	-	25	2914		c.e25-2		UBAP2_ENST00000449054.1_Splice_Site|UBAP2_ENST00000539807.1_Splice_Site|UBAP2_ENST00000379239.4_Splice_Site|UBAP2_ENST00000379235.1_Splice_Site|UBAP2_ENST00000360802.1_Splice_Site					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TGGAGGGACCTGGGGGGGCAAG	0.594																																						uc003ztq.1		NA																	0				ovary(3)	3						c.e25-1		ubiquitin associated protein 2																																				SO:0001630	splice_region_variant	55833							g.chr9:33923478_33923479insG	AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.2797-2->C	9.37:g.33923485_33923485dupG						UBAP2_uc011loc.1_Splice_Site_p.V842_splice|UBAP2_uc011lod.1_Splice_Site_p.V666_splice|UBAP2_uc011loe.1_Splice_Site_p.V688_splice|UBAP2_uc011lof.1_Intron|UBAP2_uc003ztn.1_Splice_Site_p.V172_splice|UBAP2_uc003zto.1_Splice_Site_p.V172_splice|UBAP2_uc003ztp.1_Splice_Site_p.V172_splice	p.V933_splice	NM_018449	NP_060919	Q5T6F2	UBAP2_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)	25	2910	-									Splice_Site	INS	ENST00000379238.1	37	c.2797_splice	CCDS6547.1																																																																																				0.594	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001071.1	NM_018449	Intron	53	280	NA	NA	NA	NA	53	280	---	---	---	---
VPS13A	23230	broad.mit.edu	37	9	79930243	79930244	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6436-01A-11D-1683-08	TCGA-CV-6436-11A-01D-1683-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	a5214457-3a86-4b29-b116-3baaa0aa5099	52a510f4-866c-4471-a03b-a406c75f544f	g.chr9:79930243_79930244insT	ENST00000360280.3	+	38	4747_4748	c.4487_4488insT	c.(4486-4491)tgtgtgfs	p.V1497fs	VPS13A_ENST00000376636.3_Frame_Shift_Ins_p.V1458fs|VPS13A_ENST00000376634.4_Frame_Shift_Ins_p.V1497fs|VPS13A_ENST00000423463.2_3'UTR|VPS13A_ENST00000357409.5_Frame_Shift_Ins_p.V1497fs	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1497					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGAGATGGTTGTGTGACTGATG	0.396																																						uc004akr.2		NA																	0				pancreas(3)|skin(3)|ovary(2)|large_intestine(1)|central_nervous_system(1)	10						c.(4486-4488)TGTfs		vacuolar protein sorting 13A isoform A																																				SO:0001589	frameshift_variant	23230				Golgi to endosome transport|protein transport	intracellular	protein binding	g.chr9:79930243_79930244insT	AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.4488dupT	9.37:g.79930244_79930244dupT	ENSP00000353422:p.Val1497fs					VPS13A_uc004akp.3_Frame_Shift_Ins_p.C1496fs|VPS13A_uc004akq.3_Frame_Shift_Ins_p.C1496fs|VPS13A_uc004aks.2_Frame_Shift_Ins_p.C1457fs|VPS13A_uc004akt.2_5'Flank|VPS13A_uc010mpo.1_Frame_Shift_Ins_p.C92fs	p.C1496fs	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN			38	4747_4748	+			1496					Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Frame_Shift_Ins	INS	ENST00000360280.3	37	c.4487_4488insT	CCDS6655.1																																																																																				0.396	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052753.2	NM_015186		40	72	NA	NA	NA	NA	40	72	---	---	---	---
