#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
PLEKHG5	57449	broad.mit.edu	37	1	6534542	6534542	+	Silent	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:6534542G>A	ENST00000400915.3	-	7	642	c.576C>T	c.(574-576)taC>taT	p.Y192Y	PLEKHG5_ENST00000340850.5_Silent_p.Y136Y|PLEKHG5_ENST00000377728.3_Silent_p.Y136Y|PLEKHG5_ENST00000400913.1_Silent_p.Y136Y|PLEKHG5_ENST00000377737.2_Silent_p.Y136Y|PLEKHG5_ENST00000537245.1_Silent_p.Y215Y|PLEKHG5_ENST00000377740.3_Silent_p.Y213Y|PLEKHG5_ENST00000377732.1_Silent_p.Y173Y|PLEKHG5_ENST00000377725.1_Silent_p.Y136Y|PLEKHG5_ENST00000377748.1_Silent_p.Y213Y|PLEKHG5_ENST00000544978.1_Silent_p.Y136Y|PLEKHG5_ENST00000535355.1_Silent_p.Y205Y	NM_001042663.1	NP_001036128.1	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	192					apoptotic signaling pathway (GO:0097190)|endothelial cell chemotaxis (GO:0035767)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCCCGAACCTGTAGGCCTCGA	0.607																																						uc001ano.1		NA																	0				liver(1)	1						c.(574-576)TAC>TAT		pleckstrin homology domain containing family G							107.0	76.0	86.0					1																	6534542		2203	4300	6503	SO:0001819	synonymous_variant	57449				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity	g.chr1:6534542G>A	AK024676	CCDS79.1, CCDS41240.1, CCDS41241.1, CCDS57967.1, CCDS57968.1, CCDS57969.1	1p36.31	2014-09-17		2005-08-09	ENSG00000171680	ENSG00000171680		"""Pleckstrin homology (PH) domain containing"""	29105	protein-coding gene	gene with protein product	"""synectin-binding guanine exchange factor"""	611101				17564964	Standard	NM_001042663		Approved	KIAA0720, Syx, GEF720, Tech	uc010nzr.1	O94827	OTTHUMG00000000905	ENST00000400915.3:c.576C>T	1.37:g.6534542G>A						PLEKHG5_uc001ann.1_Silent_p.Y173Y|PLEKHG5_uc001anq.1_Silent_p.Y213Y|PLEKHG5_uc001anp.1_Silent_p.Y213Y|PLEKHG5_uc001anj.1_5'Flank|PLEKHG5_uc009vma.1_5'UTR|PLEKHG5_uc010nzr.1_Silent_p.Y205Y|PLEKHG5_uc001ank.1_Silent_p.Y136Y|PLEKHG5_uc009vmb.1_Silent_p.Y136Y|PLEKHG5_uc001anl.1_Silent_p.Y136Y|PLEKHG5_uc001anm.1_Silent_p.Y136Y	p.Y192Y	NM_001042663	NP_001036128	O94827	PKHG5_HUMAN		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)	7	677	-	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)	192					B3KU07|B7Z2M3|B7Z5X2|F5GZ21|F5H1I0|Q5SY17|Q5T8W5|Q5T8W9|Q6ZNM0|Q7Z436|Q86YD8|Q96BS1	Silent	SNP	ENST00000400915.3	37	c.576C>T	CCDS41241.1																																																																																				0.607	PLEKHG5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002631.1	NM_020631		6	29	0	0	0	0	6	29				
NOL9	79707	broad.mit.edu	37	1	6609717	6609717	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:6609717A>G	ENST00000377705.5	-	3	690	c.658T>C	c.(658-660)Tcc>Ccc	p.S220P		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	220					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		AACACAATGGAACACTGAGGA	0.413																																						uc001ans.2		NA																	0				skin(1)	1						c.(658-660)TCC>CCC		nucleolar protein 9							131.0	120.0	124.0					1																	6609717		2203	4300	6503	SO:0001583	missense	79707				maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding	g.chr1:6609717A>G	AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"""polynucleotide 5'-kinase"""					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.658T>C	1.37:g.6609717A>G	ENSP00000366934:p.Ser220Pro					NOL9_uc010nzs.1_RNA	p.S220P	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)	3	677	-	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)	220					Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	ENST00000377705.5	37	c.658T>C	CCDS80.1	.	.	.	.	.	.	.	.	.	.	A	15.34	2.804255	0.50315	.	.	ENSG00000162408	ENST00000377705	T	0.20881	2.04	5.74	4.62	0.57501	.	0.000000	0.64402	D	0.000003	T	0.31575	0.0801	L	0.59436	1.845	0.33078	D	0.536214	D	0.57899	0.981	P	0.55161	0.77	T	0.46048	-0.9219	10	0.44086	T	0.13	-31.7008	8.3889	0.32516	0.912:0.0:0.088:0.0	.	220	Q5SY16	NOL9_HUMAN	P	220	ENSP00000366934:S220P	ENSP00000366934:S220P	S	-	1	0	NOL9	6532304	1.000000	0.71417	0.995000	0.50966	0.042000	0.13812	2.374000	0.44274	1.010000	0.39314	0.496000	0.49642	TCC		0.413	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002625.1	NM_024654		7	71	0	0	0	0	7	71				
CELA2A	63036	broad.mit.edu	37	1	15789236	15789236	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:15789236G>C	ENST00000359621.4	+	4	261	c.236G>C	c.(235-237)aGg>aCg	p.R79T		NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	79	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|keratohyalin granule (GO:0036457)	serine hydrolase activity (GO:0017171)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						AGCTCCTCCAGGACCTACCGC	0.617																																						uc001awk.2		NA																	0				ovary(2)	2						c.(235-237)AGG>ACG		elastase 2A preproprotein							55.0	61.0	59.0					1																	15789236		2203	4300	6503	SO:0001583	missense	63036				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr1:15789236G>C		CCDS157.1	1p36.21	2009-07-09			ENSG00000142615	ENSG00000142615	3.4.21.71		24609	protein-coding gene	gene with protein product	"""elastase 2A"""	609443				3646943, 2834346	Standard	NM_033440		Approved	ELA2A	uc001awk.3	P08217	OTTHUMG00000002258	ENST00000359621.4:c.236G>C	1.37:g.15789236G>C	ENSP00000352639:p.Arg79Thr						p.R79T	NM_033440	NP_254275	P08217	CEL2A_HUMAN			4	262	+			79			Peptidase S1.		B2R5I4|Q14243	Missense_Mutation	SNP	ENST00000359621.4	37	c.236G>C	CCDS157.1	.	.	.	.	.	.	.	.	.	.	G	1.138	-0.650301	0.03506	.	.	ENSG00000142615	ENST00000375924;ENST00000359621	D	0.88664	-2.41	3.61	1.06	0.20224	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.563553	0.16059	U	0.231592	T	0.68174	0.2972	N	0.02181	-0.65	0.09310	N	1	B	0.12630	0.006	B	0.10450	0.005	T	0.58042	-0.7706	10	0.27785	T	0.31	.	5.2745	0.15641	0.1802:0.0:0.6468:0.173	.	79	P08217	CEL2A_HUMAN	T	116;79	ENSP00000352639:R79T	ENSP00000352639:R79T	R	+	2	0	CELA2A	15661823	0.000000	0.05858	0.071000	0.20095	0.015000	0.08874	0.027000	0.13621	0.026000	0.15269	0.465000	0.42564	AGG		0.617	CELA2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006445.1	NM_033440		29	59	0	0	0	0	29	59				
HSPG2	3339	broad.mit.edu	37	1	22172685	22172685	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:22172685G>A	ENST00000374695.3	-	64	8459	c.8380C>T	c.(8380-8382)Cgg>Tgg	p.R2794W		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2794	Ig-like C2-type 13.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	CCCATCACCCGGCACACGTAT	0.657																																						uc001bfj.2		NA																	0				ovary(5)|large_intestine(2)|central_nervous_system(1)|skin(1)	9						c.(8380-8382)CGG>TGG		heparan sulfate proteoglycan 2 precursor	Becaplermin(DB00102)|Palifermin(DB00039)						27.0	29.0	29.0					1																	22172685		2202	4300	6502	SO:0001583	missense	3339				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding	g.chr1:22172685G>A	M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.8380C>T	1.37:g.22172685G>A	ENSP00000363827:p.Arg2794Trp					HSPG2_uc009vqd.2_Missense_Mutation_p.R2795W	p.R2794W	NM_005529	NP_005520	P98160	PGBM_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	64	8420	-		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	2794			Ig-like C2-type 13.		Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	ENST00000374695.3	37	c.8380C>T	CCDS30625.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.803137	0.50315	.	.	ENSG00000142798	ENST00000374695	T	0.68624	-0.34	5.22	3.31	0.37934	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.466517	0.16230	N	0.223649	D	0.83151	0.5192	H	0.94698	3.57	0.26960	N	0.965826	D;D	0.69078	0.997;0.995	D;P	0.64595	0.927;0.893	T	0.74306	-0.3708	10	0.62326	D	0.03	.	7.7512	0.28898	0.0869:0.0:0.7491:0.1639	.	734;2794	Q59EG0;P98160	.;PGBM_HUMAN	W	2794	ENSP00000363827:R2794W	ENSP00000363827:R2794W	R	-	1	2	HSPG2	22045272	0.984000	0.35163	0.881000	0.34555	0.102000	0.19082	2.058000	0.41374	1.170000	0.42753	0.561000	0.74099	CGG		0.657	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007598.1	NM_005529		15	29	0	0	0	0	15	29				
DMRTB1	63948	broad.mit.edu	37	1	53930414	53930414	+	Silent	SNP	G	G	A	rs576142948		TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:53930414G>A	ENST00000371445.3	+	3	910	c.855G>A	c.(853-855)ccG>ccA	p.P285P		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	285	Pro-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						AGTTCCTCCCGCCAGGCTACC	0.647													G|||	1	0.000199681	0.0	0.0	5008	,	,		12222	0.0		0.0	False		,,,				2504	0.001					uc001cvq.1		NA																	0				ovary(1)|skin(1)	2						c.(853-855)CCG>CCA		DMRT-like family B with proline-rich C-terminal,							66.0	69.0	68.0					1																	53930414		2203	4300	6503	SO:0001819	synonymous_variant	63948				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr1:53930414G>A	AJ291671	CCDS581.1	1p32	2008-08-29			ENSG00000143006	ENSG00000143006			13913	protein-coding gene	gene with protein product		614805					Standard	NM_033067		Approved		uc001cvq.1	Q96MA1	OTTHUMG00000008080	ENST00000371445.3:c.855G>A	1.37:g.53930414G>A							p.P285P	NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN			3	910	+			285			Pro-rich.		Q96SD2	Silent	SNP	ENST00000371445.3	37	c.855G>A	CCDS581.1																																																																																				0.647	DMRTB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022110.1			13	73	0	0	0	0	13	73				
C1orf168	199920	broad.mit.edu	37	1	57257877	57257877	+	Silent	SNP	G	G	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:57257877G>T	ENST00000343433.6	-	2	689	c.609C>A	c.(607-609)ccC>ccA	p.P203P	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	203										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GTAATATTTTGGGGGCCACCA	0.488																																						uc001cym.3		NA																	0				ovary(3)|skin(2)	5						c.(607-609)CCC>CCA		hypothetical protein LOC199920							92.0	98.0	96.0					1																	57257877		2203	4300	6503	SO:0001819	synonymous_variant	199920							g.chr1:57257877G>T	BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.609C>A	1.37:g.57257877G>T						C1orf168_uc009vzu.1_RNA|C1orf168_uc009vzv.1_Silent_p.P203P	p.P203P	NM_001004303	NP_001004303	Q5VWT5	CA168_HUMAN			2	1015	-			203					Q63HM3|Q6ZUY6	Silent	SNP	ENST00000343433.6	37	c.609C>A	CCDS30729.1																																																																																				0.488	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022751.2	NM_001004303		9	123	1	0	2.18e-05	2.46e-05	9	123				
PTGFR	5737	broad.mit.edu	37	1	79002110	79002110	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:79002110G>A	ENST00000370757.3	+	3	1055	c.818G>A	c.(817-819)gGa>gAa	p.G273E	PTGFR_ENST00000370758.1_Missense_Mutation_p.G273E|PTGFR_ENST00000370756.3_Missense_Mutation_p.E297K	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	273					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	GCCAACATTGGAATAAATGGA	0.343																																						uc001din.2		NA																	0				ovary(3)|breast(2)|skin(1)	6						c.(817-819)GGA>GAA		prostaglandin F receptor isoform a precursor	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)						91.0	98.0	95.0					1																	79002110		2203	4300	6503	SO:0001583	missense	5737				parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	g.chr1:79002110G>A	AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"""GPCR / Class A : Prostanoid receptors"""	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.818G>A	1.37:g.79002110G>A	ENSP00000359793:p.Gly273Glu					PTGFR_uc001dim.2_Missense_Mutation_p.E297K	p.G273E	NM_000959	NP_000950	P43088	PF2R_HUMAN		Colorectal(170;0.248)	3	1084	+			273			Extracellular (Potential).		A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	ENST00000370757.3	37	c.818G>A	CCDS686.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.38|12.38	1.919703|1.919703	0.33908|0.33908	.|.	.|.	ENSG00000122420|ENSG00000122420	ENST00000370756|ENST00000370758;ENST00000370757	T|T;T	0.77098|0.37058	-1.07|1.22;1.22	5.66|5.66	4.73|4.73	0.59995|0.59995	.|GPCR, rhodopsin-like superfamily (1);	.|0.673359	.|0.15290	.|N	.|0.270216	T|T	0.14184|0.14184	0.0343|0.0343	.|.	.|.	.|.	0.26808|0.26808	N|N	0.969066|0.969066	B|B	0.31548|0.21225	0.328|0.053	B|B	0.28011|0.27715	0.085|0.082	T|T	0.16424|0.16424	-1.0403|-1.0403	8|9	0.45353|0.36615	T|T	0.12|0.2	-7.725|-7.725	11.4992|11.4992	0.50426|0.50426	0.0:0.1402:0.7227:0.1371|0.0:0.1402:0.7227:0.1371	.|.	297|273	P43088-2|P43088	.|PF2R_HUMAN	K|E	297|273	ENSP00000359792:E297K|ENSP00000359794:G273E;ENSP00000359793:G273E	ENSP00000359792:E297K|ENSP00000359793:G273E	E|G	+|+	1|2	0|0	PTGFR|PTGFR	78774698|78774698	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	3.045000|3.045000	0.49838|0.49838	1.499000|1.499000	0.48617|0.48617	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.343	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026582.1	NM_000959		4	56	0	0	0	0	4	56				
KCNA3	3738	broad.mit.edu	37	1	111216780	111216780	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:111216780G>A	ENST00000369769.2	-	1	875	c.652C>T	c.(652-654)Cgc>Tgc	p.R218C		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	218					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	membrane raft (GO:0045121)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|voltage-gated ion channel activity (GO:0005244)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	Dalfampridine(DB06637)	CACACCTGGCGCTGGAAGTCG	0.672																																						uc001dzv.1		NA																	0				ovary(4)|pancreas(1)	5						c.(652-654)CGC>TGC		potassium voltage-gated channel, shaker-related							36.0	44.0	41.0					1																	111216780		2196	4286	6482	SO:0001583	missense	3738					voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr1:111216780G>A	L23499	CCDS828.2	1p13.3	2012-07-05			ENSG00000177272	ENSG00000177272		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6221	protein-coding gene	gene with protein product		176263				2251283, 16382104	Standard	NM_002232		Approved	Kv1.3, MK3, HLK3, HPCN3	uc001dzv.1	P22001	OTTHUMG00000034493	ENST00000369769.2:c.652C>T	1.37:g.111216780G>A	ENSP00000358784:p.Arg218Cys						p.R218C	NM_002232	NP_002223	P22001	KCNA3_HUMAN		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	876	-		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)	218					Q5VWN2	Missense_Mutation	SNP	ENST00000369769.2	37	c.652C>T	CCDS828.2	.	.	.	.	.	.	.	.	.	.	G	14.00	2.404532	0.42613	.	.	ENSG00000177272	ENST00000369769	T	0.65549	-0.16	4.8	4.8	0.61643	.	0.126961	0.47455	U	0.000222	T	0.76392	0.3981	M	0.88979	2.995	0.80722	D	1	D	0.89917	1.0	D	0.67103	0.949	T	0.81697	-0.0815	10	0.87932	D	0	.	12.8749	0.57984	0.0:0.0:0.837:0.163	.	218	P22001	KCNA3_HUMAN	C	218	ENSP00000358784:R218C	ENSP00000358784:R218C	R	-	1	0	KCNA3	111018303	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.825000	0.55730	2.209000	0.71365	0.561000	0.74099	CGC		0.672	KCNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083391.1	NM_002232		9	58	0	0	0	0	9	58				
UBQLN4	56893	broad.mit.edu	37	1	156020169	156020169	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:156020169C>T	ENST00000368309.3	-	4	746	c.654G>A	c.(652-654)atG>atA	p.M218I	UBQLN4_ENST00000472638.1_Intron	NM_020131.3	NP_064516.2	Q9NRR5	UBQL4_HUMAN	ubiquilin 4	218					regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|polyubiquitin binding (GO:0031593)	p.M218I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					TGGCCATAATCATGTGACGCA	0.522																																						uc001fna.2		NA																	1	Substitution - Missense(1)		lung(1)	pancreas(1)|skin(1)	2						c.(652-654)ATG>ATA		ataxin-1 ubiquitin-like interacting protein							177.0	154.0	162.0					1																	156020169		2203	4300	6503	SO:0001583	missense	56893					cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding	g.chr1:156020169C>T	BC018403	CCDS1127.1	1q21	2013-02-12	2004-11-05	2004-11-06	ENSG00000160803	ENSG00000160803		"""Ubiquilin family"""	1237	protein-coding gene	gene with protein product	"""ataxin-1 ubiquitin-like interacting protein"""	605440	"""chromosome 1 open reading frame 6"""	C1orf6		10575211, 11001934	Standard	NM_020131		Approved	A1U, UBIN	uc001fna.3	Q9NRR5	OTTHUMG00000017461	ENST00000368309.3:c.654G>A	1.37:g.156020169C>T	ENSP00000357292:p.Met218Ile					UBQLN4_uc010pgx.1_Missense_Mutation_p.M198I	p.M218I	NM_020131	NP_064516	Q9NRR5	UBQL4_HUMAN			4	678	-	Hepatocellular(266;0.133)|all_neural(408;0.195)		218					A6ND44|B2RAY7|Q5VYA0|Q5VYA1|Q9BR98|Q9UHX4	Missense_Mutation	SNP	ENST00000368309.3	37	c.654G>A	CCDS1127.1	.	.	.	.	.	.	.	.	.	.	C	16.44	3.124270	0.56613	.	.	ENSG00000160803	ENST00000368309	T	0.28454	1.61	4.49	4.49	0.54785	Heat shock chaperonin-binding (1);	0.000000	0.85682	D	0.000000	T	0.11196	0.0273	N	0.16903	0.455	0.80722	D	1	B;B	0.24823	0.112;0.112	B;B	0.27715	0.038;0.082	T	0.06427	-1.0827	10	0.30078	T	0.28	-27.5016	15.9589	0.79910	0.0:1.0:0.0:0.0	.	198;218	B4DZF6;Q9NRR5	.;UBQL4_HUMAN	I	218	ENSP00000357292:M218I	ENSP00000357292:M218I	M	-	3	0	UBQLN4	154286793	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.734000	0.62043	2.342000	0.79632	0.561000	0.74099	ATG		0.522	UBQLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046193.1	NM_020131		6	137	0	0	0	0	6	137				
DDX59	83479	broad.mit.edu	37	1	200619738	200619738	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:200619738C>G	ENST00000331314.6	-	5	1342	c.1129G>C	c.(1129-1131)Gat>Cat	p.D377H	DDX59_ENST00000367348.3_Missense_Mutation_p.D377H|DDX59_ENST00000447706.2_Missense_Mutation_p.D377H	NM_001031725.4	NP_001026895.2	Q5T1V6	DDX59_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 59	377	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						GTCTGACAATCATTAGGAATG	0.353																																						uc009wzk.2		NA																	0				ovary(2)|breast(1)|central_nervous_system(1)	4						c.(1129-1131)GAT>CAT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 59							93.0	86.0	88.0					1																	200619738		2203	4300	6503	SO:0001583	missense	83479					intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding	g.chr1:200619738C>G	BC041801	CCDS30964.1	1q32.1	2010-07-14			ENSG00000118197	ENSG00000118197		"""Zinc fingers, HIT-type"", ""DEAD-boxes"""	25360	protein-coding gene	gene with protein product		615464					Standard	NM_001031725		Approved	DKFZP564B1023, ZNHIT5	uc009wzk.3	Q5T1V6	OTTHUMG00000035725	ENST00000331314.6:c.1129G>C	1.37:g.200619738C>G	ENSP00000330460:p.Asp377His					DDX59_uc010ppl.1_Missense_Mutation_p.D377H	p.D377H	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN			5	1372	-			377			Helicase ATP-binding.		Q6PJL2|Q8IVW3|Q9H0W3	Missense_Mutation	SNP	ENST00000331314.6	37	c.1129G>C	CCDS30964.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.931882	0.73442	.	.	ENSG00000118197	ENST00000447706;ENST00000413408;ENST00000367348;ENST00000331314;ENST00000433235;ENST00000453944	T;T;T;T;T;T	0.47177	2.42;3.16;2.42;2.42;3.46;0.85	5.75	5.75	0.90469	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.094778	0.64402	D	0.000001	T	0.46870	0.1415	L	0.48935	1.535	0.80722	D	1	P;B	0.38473	0.633;0.146	B;B	0.36766	0.232;0.17	T	0.50136	-0.8863	10	0.72032	D	0.01	-27.9561	19.9402	0.97155	0.0:1.0:0.0:0.0	.	377;377	B7Z5N6;Q5T1V6	.;DDX59_HUMAN	H	377;15;377;377;20;20	ENSP00000394367:D377H;ENSP00000394304:D15H;ENSP00000356317:D377H;ENSP00000330460:D377H;ENSP00000409954:D20H;ENSP00000398152:D20H	ENSP00000330460:D377H	D	-	1	0	DDX59	198886361	1.000000	0.71417	0.903000	0.35520	0.952000	0.60782	6.041000	0.70988	2.720000	0.93068	0.573000	0.79308	GAT		0.353	DDX59-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086883.2	NM_001031725.4		3	39	0	0	0	0	3	39				
IBA57	200205	broad.mit.edu	37	1	228362900	228362900	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:228362900G>A	ENST00000366711.3	+	3	759	c.757G>A	c.(757-759)Gtg>Atg	p.V253M	IBA57_ENST00000546123.1_Missense_Mutation_p.V60M|IBA57_ENST00000484749.1_3'UTR	NM_001010867.2	NP_001010867.1	Q5T440	CAF17_HUMAN	IBA57, iron-sulfur cluster assembly homolog (S. cerevisiae)	253					glycine catabolic process (GO:0006546)|heme biosynthetic process (GO:0006783)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|prostate(1)	11						CATGAACGGCGTGAGCTTCAC	0.642																																						uc001hsl.3		NA																	0					0						c.(757-759)GTG>ATG		hypothetical protein LOC200205 precursor							68.0	67.0	68.0					1																	228362900		2203	4298	6501	SO:0001583	missense	200205				glycine catabolic process|heme biosynthetic process	mitochondrion	aminomethyltransferase activity	g.chr1:228362900G>A	AK022796	CCDS31046.1	1q42.13	2011-03-11	2011-03-11	2011-03-11	ENSG00000181873	ENSG00000181873			27302	protein-coding gene	gene with protein product	"""iron-sulfur cluster assembly factor for biotin synthase- and aconitase-like mitochondrial proteins, with a mass of 57kDa"""	615316	"""chromosome 1 open reading frame 69"""	C1orf69			Standard	NM_001010867		Approved	FLJ12734	uc001hsl.4	Q5T440	OTTHUMG00000039769	ENST00000366711.3:c.757G>A	1.37:g.228362900G>A	ENSP00000355672:p.Val253Met					C1orf69_uc010pvw.1_Missense_Mutation_p.V60M	p.V253M	NM_001010867	NP_001010867	Q5T440	CAF17_HUMAN			3	846	+		Prostate(94;0.0405)	253						Missense_Mutation	SNP	ENST00000366711.3	37	c.757G>A	CCDS31046.1	.	.	.	.	.	.	.	.	.	.	G	18.38	3.611337	0.66558	.	.	ENSG00000181873	ENST00000366711;ENST00000546123	T;T	0.53206	0.63;0.63	5.08	4.17	0.49024	YgfZ/GcvT conserved site (1);	0.125338	0.56097	D	0.000036	T	0.69557	0.3124	M	0.90705	3.14	0.51482	D	0.99992	D	0.89917	1.0	D	0.71656	0.974	T	0.73282	-0.4032	10	0.66056	D	0.02	-36.5739	8.1148	0.30935	0.2916:0.0:0.7084:0.0	.	253	Q5T440	CAF17_HUMAN	M	253;60	ENSP00000355672:V253M;ENSP00000437347:V60M	ENSP00000355672:V253M	V	+	1	0	IBA57	226429523	0.989000	0.36119	0.965000	0.40720	0.789000	0.44602	2.515000	0.45512	1.372000	0.46190	0.655000	0.94253	GTG		0.642	IBA57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095980.1	NM_001010867		10	92	0	0	0	0	10	92				
C1orf198	84886	broad.mit.edu	37	1	230979431	230979431	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:230979431C>T	ENST00000366663.5	-	3	736	c.596G>A	c.(595-597)cGa>cAa	p.R199Q	C1orf198_ENST00000427697.2_5'UTR|C1orf198_ENST00000523410.1_Missense_Mutation_p.R69Q|C1orf198_ENST00000470540.1_Missense_Mutation_p.R161Q	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	199						cytoplasm (GO:0005737)				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				CCCCTCCCCTCGGGACCGCTC	0.627																																						uc001hub.2		NA																	0					0						c.(595-597)CGA>CAA		hypothetical protein LOC84886 isoform 1							82.0	82.0	82.0					1																	230979431		2203	4300	6503	SO:0001583	missense	84886							g.chr1:230979431C>T	BC066649	CCDS1587.1, CCDS44330.1, CCDS44331.1	1q42.2	2008-02-05			ENSG00000119280	ENSG00000119280			25900	protein-coding gene	gene with protein product							Standard	NM_032800		Approved	FLJ14525, MGC10710, FLJ16283, DKFZp667D152, FLJ38847	uc001hub.3	Q9H425	OTTHUMG00000037790	ENST00000366663.5:c.596G>A	1.37:g.230979431C>T	ENSP00000355623:p.Arg199Gln					C1orf198_uc009xfh.1_Missense_Mutation_p.R69Q|C1orf198_uc001huc.1_5'UTR|C1orf198_uc001hud.1_Missense_Mutation_p.R161Q	p.R199Q	NM_032800	NP_116189	Q9H425	CA198_HUMAN			3	640	-	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)	199					A8K8R8|B3KTW1|G5EA08	Missense_Mutation	SNP	ENST00000366663.5	37	c.596G>A	CCDS1587.1	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812883	0.70912	.	.	ENSG00000119280	ENST00000366663;ENST00000470540;ENST00000523410;ENST00000522201	T;T;T	0.37584	1.34;1.35;1.19	4.61	4.61	0.57282	.	0.132651	0.45126	D	0.000389	T	0.46112	0.1376	L	0.60455	1.87	0.35783	D	0.821772	D	0.71674	0.998	P	0.62014	0.897	T	0.54662	-0.8260	10	0.30854	T	0.27	-29.8056	6.0147	0.19596	0.0:0.7512:0.0:0.2488	.	199	Q9H425	CA198_HUMAN	Q	199;161;69;156	ENSP00000355623:R199Q;ENSP00000428172:R161Q;ENSP00000430967:R69Q	ENSP00000355623:R199Q	R	-	2	0	C1orf198	229046054	1.000000	0.71417	0.999000	0.59377	0.654000	0.38779	3.678000	0.54627	2.100000	0.63781	0.462000	0.41574	CGA		0.627	C1orf198-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092236.2	NM_032800		24	111	0	0	0	0	24	111				
OR2L3	391192	broad.mit.edu	37	1	248224880	248224880	+	Silent	SNP	C	C	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:248224880C>A	ENST00000359959.3	+	1	897	c.897C>A	c.(895-897)gcC>gcA	p.A299A	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	299						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TGATGGGGGCCCTGACACGAG	0.493																																						uc001idx.1		NA																	0					0						c.(895-897)GCC>GCA		olfactory receptor, family 2, subfamily L,							47.0	49.0	48.0					1																	248224880		2203	4300	6503	SO:0001819	synonymous_variant	391192				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248224880C>A	AB065950	CCDS31104.1	1q44	2012-08-09			ENSG00000198128	ENSG00000198128		"""GPCR / Class A : Olfactory receptors"""	15009	protein-coding gene	gene with protein product							Standard	NM_001004687		Approved		uc001idx.1	Q8NG85	OTTHUMG00000040195	ENST00000359959.3:c.897C>A	1.37:g.248224880C>A						OR2L13_uc001ids.2_Intron	p.A299A	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0278)		1	897	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		299			Cytoplasmic (Potential).		B9EH44	Silent	SNP	ENST00000359959.3	37	c.897C>A	CCDS31104.1																																																																																				0.493	OR2L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096852.1	NM_001004687		10	58	1	0	0.00621372	0.00668162	10	58				
OR2M3	127062	broad.mit.edu	37	1	248366774	248366774	+	Silent	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:248366774C>G	ENST00000456743.1	+	1	443	c.405C>G	c.(403-405)ctC>ctG	p.L135L		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	135						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACACCAATCTCATGAGCCCTA	0.438																																						uc010pzg.1		NA																	0				ovary(1)|skin(1)	2						c.(403-405)CTC>CTG		olfactory receptor, family 2, subfamily M,							217.0	217.0	217.0					1																	248366774		2203	4300	6503	SO:0001819	synonymous_variant	127062				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248366774C>G		CCDS31107.1	1q44	2012-08-09		2004-03-10	ENSG00000228198	ENSG00000228198		"""GPCR / Class A : Olfactory receptors"""	8269	protein-coding gene	gene with protein product				OR2M6, OR2M3P			Standard	NM_001004689		Approved	OST003	uc010pzg.2	Q8NG83	OTTHUMG00000040459	ENST00000456743.1:c.405C>G	1.37:g.248366774C>G							p.L135L	NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	405	+	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		135			Cytoplasmic (Potential).		B9EH06|Q6IEY0	Silent	SNP	ENST00000456743.1	37	c.405C>G	CCDS31107.1																																																																																				0.438	OR2M3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097355.1	NM_001004689		13	247	0	0	0	0	13	247				
SEC61A2	55176	broad.mit.edu	37	10	12197794	12197794	+	Silent	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr10:12197794G>A	ENST00000298428.9	+	7	569	c.480G>A	c.(478-480)ttG>ttA	p.L160L	SEC61A2_ENST00000379033.3_Silent_p.L138L|SEC61A2_ENST00000379020.4_Silent_p.L160L|SEC61A2_ENST00000304267.8_Silent_p.L160L|SEC61A2_ENST00000495368.1_3'UTR	NM_018144.3	NP_060614.2	Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	160					antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ribosome binding (GO:0043022)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				TTGCTGGTTTGATTGTGCTGC	0.473																																						uc001ile.2		NA																	0				ovary(1)	1						c.(478-480)TTG>TTA		Sec61 alpha form 2 isoform a							323.0	299.0	307.0					10																	12197794		2203	4300	6503	SO:0001819	synonymous_variant	55176					endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity	g.chr10:12197794G>A	AF346603	CCDS7088.1, CCDS44358.1, CCDS44359.1	10p14	2004-01-06			ENSG00000065665	ENSG00000065665			17702	protein-coding gene	gene with protein product							Standard	NM_018144		Approved	FLJ10578	uc001ile.2	Q9H9S3	OTTHUMG00000017679	ENST00000298428.9:c.480G>A	10.37:g.12197794G>A						SEC61A2_uc010qbq.1_Silent_p.L138L|SEC61A2_uc001ilf.3_RNA|SEC61A2_uc001ilh.3_RNA|SEC61A2_uc001ilg.3_Silent_p.L160L	p.L160L	NM_018144	NP_060614	Q9H9S3	S61A2_HUMAN			7	627	+		Renal(717;0.228)	160			Helical; (Potential).		A8K8D0|B4DX72|F8W773	Silent	SNP	ENST00000298428.9	37	c.480G>A	CCDS7088.1	.	.	.	.	.	.	.	.	.	.	G	9.271	1.045755	0.19748	.	.	ENSG00000065665	ENST00000419021	.	.	.	5.73	5.73	0.89815	.	.	.	.	.	T	0.75398	0.3844	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72340	-0.4323	4	.	.	.	-11.7037	19.2577	0.93952	0.0:0.0:1.0:0.0	.	.	.	.	N	42	.	.	D	+	1	0	SEC61A2	12237800	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.558000	0.73942	2.854000	0.98071	0.655000	0.94253	GAT		0.473	SEC61A2-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046795.1	NM_018144		34	303	0	0	0	0	34	303				
ACBD5	91452	broad.mit.edu	37	10	27512312	27512312	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr10:27512312T>A	ENST00000375888.1	-	4	503	c.439A>T	c.(439-441)Att>Ttt	p.I147F	ACBD5_ENST00000375901.1_Missense_Mutation_p.I40F|ACBD5_ENST00000396271.3_Missense_Mutation_p.I149F|ACBD5_ENST00000375905.4_Missense_Mutation_p.I114F|ACBD5_ENST00000375897.3_Missense_Mutation_p.I40F|ACBD5_ENST00000476758.1_5'UTR			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	147					peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						TCCTCGACAATTTCATAAAAT	0.318																																						uc010qdp.1		NA																	0					0						c.(445-447)ATT>TTT		acyl-Coenzyme A binding domain containing 5							104.0	99.0	100.0					10																	27512312		2203	4300	6503	SO:0001583	missense	91452				transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding	g.chr10:27512312T>A	AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 5"""			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.439A>T	10.37:g.27512312T>A	ENSP00000365049:p.Ile147Phe					ACBD5_uc010qdm.1_Missense_Mutation_p.I147F|ACBD5_uc010qdn.1_Missense_Mutation_p.I40F|ACBD5_uc010qdo.1_Missense_Mutation_p.I40F|ACBD5_uc001ito.2_Missense_Mutation_p.I114F|ACBD5_uc001itp.2_Missense_Mutation_p.I40F|ACBD5_uc001itq.2_Missense_Mutation_p.I40F|ACBD5_uc001itr.1_5'UTR	p.I149F	NM_145698	NP_663736	Q5T8D3	ACBD5_HUMAN			5	636	-			147					B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Missense_Mutation	SNP	ENST00000375888.1	37	c.445A>T		.	.	.	.	.	.	.	.	.	.	T	24.7	4.557656	0.86231	.	.	ENSG00000107897	ENST00000375889;ENST00000396271;ENST00000375905;ENST00000375901;ENST00000375897;ENST00000375888;ENST00000426079;ENST00000412279	D;T;T;T;T;T;T	0.85088	-1.94;2.13;1.37;1.42;2.38;2.08;1.79	5.73	5.73	0.89815	.	0.097620	0.64402	D	0.000001	D	0.91095	0.7197	M	0.62723	1.935	0.54753	D	0.999981	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.988	D	0.91294	0.5061	10	0.52906	T	0.07	-15.3456	16.0307	0.80574	0.0:0.0:0.0:1.0	.	149;40;147	Q5T8D3-3;B7Z2A7;B7Z2R7	.;.;.	F	144;149;114;40;40;147;156;114	ENSP00000379568:I149F;ENSP00000365070:I114F;ENSP00000365066:I40F;ENSP00000365062:I40F;ENSP00000365049:I147F;ENSP00000401591:I156F;ENSP00000393398:I114F	ENSP00000365049:I147F	I	-	1	0	ACBD5	27552318	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.294000	0.59043	2.190000	0.69967	0.455000	0.32223	ATT		0.318	ACBD5-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000047314.1	NM_145698		3	51	0	0	0	0	3	51				
IFIT2	3433	broad.mit.edu	37	10	91066451	91066451	+	Silent	SNP	A	A	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr10:91066451A>T	ENST00000371826.3	+	2	907	c.738A>T	c.(736-738)gtA>gtT	p.V246V	LIPA_ENST00000487618.1_Intron|LIPA_ENST00000371837.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	246					apoptotic mitochondrial changes (GO:0008637)|cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|negative regulation of protein binding (GO:0032091)|positive regulation of apoptotic process (GO:0043065)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				CCCCAGGTGTAACAGATGTTC	0.438																																						uc009xts.2		NA																	0				ovary(1)|skin(1)	2						c.(736-738)GTA>GTT		interferon-induced protein with							80.0	80.0	80.0					10																	91066451		1978	4187	6165	SO:0001819	synonymous_variant	3433				negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding	g.chr10:91066451A>T	M14660	CCDS41548.1	10q23.31	2013-01-11			ENSG00000119922	ENSG00000119922		"""Tetratricopeptide (TTC) repeat domain containing"""	5409	protein-coding gene	gene with protein product		147040		IFI54, G10P2		3175763, 3360121	Standard	NM_001547		Approved	IFI-54, ISG-54K, cig42, GARG-39	uc009xts.3	P09913	OTTHUMG00000018707	ENST00000371826.3:c.738A>T	10.37:g.91066451A>T						LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron	p.V246V	NM_001547	NP_001538	P09913	IFIT2_HUMAN			2	913	+		Colorectal(252;0.0161)	246					Q5T767	Silent	SNP	ENST00000371826.3	37	c.738A>T	CCDS41548.1																																																																																				0.438	IFIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049293.1	NM_001547		19	54	0	0	0	0	19	54				
TACC2	10579	broad.mit.edu	37	10	123970684	123970684	+	Silent	SNP	G	G	A	rs35532970		TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr10:123970684G>A	ENST00000369005.1	+	9	7084	c.6744G>A	c.(6742-6744)tcG>tcA	p.S2248S	TACC2_ENST00000260733.3_Silent_p.S326S|TACC2_ENST00000513429.1_Silent_p.S394S|TACC2_ENST00000453444.2_Silent_p.S2252S|TACC2_ENST00000360561.3_Silent_p.S326S|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000515603.1_Silent_p.S2203S|TACC2_ENST00000358010.1_Silent_p.S394S|TACC2_ENST00000515273.1_Silent_p.S2252S|TACC2_ENST00000369004.3_Silent_p.S326S|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000368999.1_Silent_p.S326S|TACC2_ENST00000334433.3_Silent_p.S2248S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2248					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TAACCCCATCGGATAGCGGGG	0.602																																						uc001lfv.2		NA																	0				ovary(4)|breast(3)|skin(2)|central_nervous_system(1)	10						c.(6742-6744)TCG>TCA		transforming, acidic coiled-coil containing							35.0	41.0	39.0					10																	123970684		2203	4300	6503	SO:0001819	synonymous_variant	10579					microtubule organizing center|nucleus	nuclear hormone receptor binding	g.chr10:123970684G>A	AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.6744G>A	10.37:g.123970684G>A						TACC2_uc001lfw.2_Silent_p.S394S|TACC2_uc009xzx.2_Silent_p.S2203S|TACC2_uc010qtv.1_Silent_p.S2252S|TACC2_uc001lfx.2_5'UTR|TACC2_uc001lfy.2_5'UTR|TACC2_uc001lfz.2_Silent_p.S326S|TACC2_uc001lga.2_Silent_p.S326S|TACC2_uc009xzy.2_Silent_p.S326S|TACC2_uc001lgb.2_Silent_p.S283S|TACC2_uc010qtw.1_Silent_p.S343S	p.S2248S	NM_206862	NP_996744	O95359	TACC2_HUMAN			9	7104	+		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)	2248					Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Silent	SNP	ENST00000369005.1	37	c.6744G>A	CCDS7626.1																																																																																				0.602	TACC2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090004.1			5	55	0	0	0	0	5	55				
CUZD1	50624	broad.mit.edu	37	10	124598737	124598737	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr10:124598737C>T	ENST00000368904.1	-	5	1193	c.244G>A	c.(244-246)Gat>Aat	p.D82N	CUZD1_ENST00000545804.1_Missense_Mutation_p.D82N|CUZD1_ENST00000392790.1_Missense_Mutation_p.D82N					CUB and zona pellucida-like domains 1											NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		CAGCTTCCATCTGGATCAAGC	0.453																																						uc001lgq.2		NA																	0				ovary(1)|skin(1)	2						c.(244-246)GAT>AAT		CUB and zona pellucida-like domains 1 precursor							102.0	93.0	96.0					10																	124598737		2203	4300	6503	SO:0001583	missense	50624				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane		g.chr10:124598737C>T	AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.244G>A	10.37:g.124598737C>T	ENSP00000357900:p.Asp82Asn					CUZD1_uc001lgp.2_5'Flank|CUZD1_uc009yad.2_5'Flank|CUZD1_uc009yaf.2_Intron|CUZD1_uc001lgr.2_5'UTR|CUZD1_uc010qty.1_5'UTR|CUZD1_uc009yae.2_5'UTR|CUZD1_uc001lgs.2_Missense_Mutation_p.D82N|CUZD1_uc010qtz.1_Missense_Mutation_p.D82N	p.D82N	NM_022034	NP_071317	Q86UP6	CUZD1_HUMAN		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)	3	576	-		all_neural(114;0.169)|Glioma(114;0.222)	82			CUB 1.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000368904.1	37	c.244G>A	CCDS7631.1	.	.	.	.	.	.	.	.	.	.	C	5.238	0.229394	0.09916	.	.	ENSG00000138161	ENST00000368904;ENST00000545804;ENST00000392790	T;T;T	0.17854	2.25;2.25;2.25	5.45	0.271	0.15640	CUB (5);	1.095220	0.06832	N	0.794097	T	0.10165	0.0249	L	0.38175	1.15	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.36841	-0.9731	10	0.02654	T	1	-0.4601	3.7588	0.08596	0.3236:0.376:0.0:0.3004	.	82	Q86UP6	CUZD1_HUMAN	N	82	ENSP00000357900:D82N;ENSP00000441590:D82N;ENSP00000376540:D82N	ENSP00000357900:D82N	D	-	1	0	CUZD1	124588727	0.001000	0.12720	0.007000	0.13788	0.837000	0.47467	0.139000	0.16036	0.241000	0.21283	-0.150000	0.13652	GAT		0.453	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050829.2	NM_022034		7	107	0	0	0	0	7	107				
NLRP6	171389	broad.mit.edu	37	11	281225	281225	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr11:281225C>G	ENST00000312165.5	+	4	1491	c.1491C>G	c.(1489-1491)ttC>ttG	p.F497L	NLRP6_ENST00000534750.1_Missense_Mutation_p.F497L	NM_138329.1	NP_612202.2	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	497	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|regulation of inflammatory response (GO:0050727)|response to bacterium (GO:0009617)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|vasopressin receptor activity (GO:0005000)			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCTACCAGTTCATCGACCAGA	0.627																																						uc010qvs.1		NA																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(1489-1491)TTC>TTG		NLR family, pyrin domain containing 6							84.0	76.0	79.0					11																	281225		2203	4300	6503	SO:0001583	missense	171389					cytoplasm	ATP binding	g.chr11:281225C>G	AF479748	CCDS7693.1, CCDS60680.1	11p15	2006-12-08	2006-12-08	2006-12-08	ENSG00000174885	ENSG00000174885		"""Nucleotide-binding domain and leucine rich repeat containing"""	22944	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 6"""	609650	"""NACHT, leucine rich repeat and PYD containing 6"""	NALP6		12563287, 12019269	Standard	NM_138329		Approved	PYPAF5, PAN3, CLR11.4	uc010qvs.3	P59044	OTTHUMG00000119070	ENST00000312165.5:c.1491C>G	11.37:g.281225C>G	ENSP00000309767:p.Phe497Leu					NLRP6_uc010qvt.1_Missense_Mutation_p.F497L	p.F497L	NM_138329	NP_612202	P59044	NALP6_HUMAN		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)	4	1491	+		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	497			NACHT.		A8K9F3|E9PJZ8	Missense_Mutation	SNP	ENST00000312165.5	37	c.1491C>G	CCDS7693.1	.	.	.	.	.	.	.	.	.	.	C	17.50	3.404316	0.62288	.	.	ENSG00000174885	ENST00000534750;ENST00000312165	D;D	0.96232	-3.68;-3.95	3.26	1.37	0.22104	NACHT nucleoside triphosphatase (1);	0.000000	0.39985	N	0.001212	D	0.97601	0.9214	M	0.86502	2.82	0.39336	D	0.965498	D;D	0.89917	1.0;0.993	D;D	0.83275	0.996;0.956	D	0.96582	0.9431	10	0.72032	D	0.01	.	7.3978	0.26946	0.0:0.7673:0.0:0.2327	.	497;497	E9PJZ8;P59044	.;NALP6_HUMAN	L	497	ENSP00000433617:F497L;ENSP00000309767:F497L	ENSP00000309767:F497L	F	+	3	2	NLRP6	271225	1.000000	0.71417	0.136000	0.22124	0.836000	0.47400	3.343000	0.52167	0.395000	0.25257	0.455000	0.32223	TTC		0.627	NLRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239283.1	NM_138329		5	122	0	0	0	0	5	122				
NUP98	4928	broad.mit.edu	37	11	3727721	3727721	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr11:3727721G>C	ENST00000324932.7	-	21	3299	c.2879C>G	c.(2878-2880)tCa>tGa	p.S960*	NUP98_ENST00000359171.4_Nonsense_Mutation_p.S960*|NUP98_ENST00000355260.3_Nonsense_Mutation_p.S960*	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	977					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|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 inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AATATGTGTTGAGGCAGACAC	0.423			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	uc001lyh.2		NA		Dom	yes		11	11p15	4928	T	nucleoporin 98kDa			L	HOXA9|NSD1|WHSC1L1|DDX10|TOP1|HOXD13|PMX1|HOXA13|HOXD11|HOXA11|RAP1GDS1|HOXC11		AML		0				breast(4)|skin(3)|ovary(2)|central_nervous_system(1)|lung(1)|kidney(1)	12						c.(2878-2880)TCA>TGA		nucleoporin 98kD isoform 1							243.0	217.0	226.0					11																	3727721		2201	4298	6499	SO:0001587	stop_gained	4928				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity	g.chr11:3727721G>C	AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.2879C>G	11.37:g.3727721G>C	ENSP00000316032:p.Ser960*					NUP98_uc001lyi.2_Nonsense_Mutation_p.S960*|NUP98_uc001lyg.2_Nonsense_Mutation_p.S28*	p.S960*	NM_016320	NP_057404	P52948	NUP98_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)	21	3170	-		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)	977					Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Nonsense_Mutation	SNP	ENST00000324932.7	37	c.2879C>G	CCDS7746.1	.	.	.	.	.	.	.	.	.	.	G	37	6.505065	0.97620	.	.	ENSG00000110713	ENST00000324932;ENST00000359171;ENST00000355260	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-11.5346	18.1486	0.89667	0.0:0.0:1.0:0.0	.	.	.	.	X	960	.	ENSP00000316032:S960X	S	-	2	0	NUP98	3684297	1.000000	0.71417	0.999000	0.59377	0.975000	0.68041	7.580000	0.82523	2.535000	0.85469	0.591000	0.81541	TCA		0.423	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032766.3	NM_016320		4	127	0	0	0	0	4	127				
PSMA1	5682	broad.mit.edu	37	11	14540580	14540580	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr11:14540580T>C	ENST00000396394.2	-	2	407	c.11A>G	c.(10-12)aAt>aGt	p.N4S	PSMA1_ENST00000396393.1_Missense_Mutation_p.N4S|PSMA1_ENST00000419365.2_Missense_Mutation_p.N4S|PSMA1_ENST00000530457.1_5'UTR|PSMA1_ENST00000555531.1_Missense_Mutation_p.N4S|PSMA1_ENST00000418988.2_Missense_Mutation_p.N10S	NM_002786.3	NP_002777.1	P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	4					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|polysome (GO:0005844)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|proteasome core complex, alpha-subunit complex (GO:0019773)	RNA binding (GO:0003723)|threonine-type endopeptidase activity (GO:0004298)			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						GTCATACTGATTTCGAAACTA	0.308																																						uc001mlk.2		NA																	0				upper_aerodigestive_tract(1)|skin(1)	2						c.(10-12)AAT>AGT		proteasome alpha 1 subunit isoform 2							41.0	45.0	43.0					11																	14540580		2200	4294	6494	SO:0001583	missense	5682				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity	g.chr11:14540580T>C	X61969	CCDS7816.1, CCDS31431.1	11p15.1	2005-10-10			ENSG00000129084	ENSG00000129084		"""Proteasome (prosome, macropain) subunits"""	9530	protein-coding gene	gene with protein product		602854				1398136, 2025653	Standard	NM_148976		Approved	HC2, NU, PROS30, MGC14542, MGC14575, MGC14751, MGC1667, MGC21459, MGC22853, MGC23915	uc001mlk.3	P25786	OTTHUMG00000165825	ENST00000396394.2:c.11A>G	11.37:g.14540580T>C	ENSP00000379676:p.Asn4Ser					PSMA1_uc001mll.2_Missense_Mutation_p.N10S|PSMA1_uc010rcp.1_RNA|PSMA1_uc001mlj.2_5'UTR|PSMA1_uc010rcq.1_Missense_Mutation_p.N4S	p.N4S	NM_002786	NP_002777	P25786	PSA1_HUMAN			2	157	-			4					A8K400|Q53YE8|Q9BRV9	Missense_Mutation	SNP	ENST00000396394.2	37	c.11A>G	CCDS7816.1	.	.	.	.	.	.	.	.	.	.	T	24.4	4.529262	0.85706	.	.	ENSG00000129084	ENST00000419365;ENST00000396394;ENST00000396393;ENST00000418988	T;T;T;T	0.39997	1.05;1.05;1.05;1.05	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.57975	0.2090	L	0.47078	1.49	0.80722	D	1	D;D;D	0.89917	1.0;0.995;0.999	D;P;D	0.79108	0.992;0.803;0.953	T	0.55153	-0.8185	10	0.39692	T	0.17	-15.3187	16.1205	0.81351	0.0:0.0:0.0:1.0	.	4;10;4	B4E0X6;P25786-2;P25786	.;.;PSA1_HUMAN	S	4;4;4;10	ENSP00000392242:N4S;ENSP00000379676:N4S;ENSP00000379675:N4S;ENSP00000414359:N10S	ENSP00000379675:N4S	N	-	2	0	PSMA1	14497156	1.000000	0.71417	1.000000	0.80357	0.852000	0.48524	7.274000	0.78538	2.205000	0.71048	0.533000	0.62120	AAT		0.308	PSMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386421.3	NM_002786		10	37	0	0	0	0	10	37				
LDHC	3948	broad.mit.edu	37	11	18467778	18467778	+	Silent	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr11:18467778G>A	ENST00000541669.1	+	7	843	c.732G>A	c.(730-732)ctG>ctA	p.L244L	LDHC_ENST00000280704.4_Silent_p.L244L|LDHC_ENST00000544105.1_Intron|LDHC_ENST00000546146.1_Intron|LDHC_ENST00000537486.1_Intron|LDHC_ENST00000535809.1_Intron|LDHC_ENST00000536880.1_Silent_p.L230L			P07864	LDHC_HUMAN	lactate dehydrogenase C	244					ATP biosynthetic process (GO:0006754)|cellular carbohydrate metabolic process (GO:0044262)|lactate biosynthetic process from pyruvate (GO:0019244)|lactate oxidation (GO:0019516)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|motile cilium (GO:0031514)|nucleus (GO:0005634)	L-lactate dehydrogenase activity (GO:0004459)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTATCAAGCTGAAGGGGTATA	0.373																																						uc001mon.3		NA																	0					0						c.(730-732)CTG>CTA		L-lactate dehydrogenase C	NADH(DB00157)						167.0	166.0	167.0					11																	18467778		2199	4293	6492	SO:0001819	synonymous_variant	3948				glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity	g.chr11:18467778G>A	AY286300	CCDS7840.1	11p15.1	2012-10-02			ENSG00000166796	ENSG00000166796	1.1.1.27		6544	protein-coding gene	gene with protein product	"""cancer/testis antigen 32"""	150150					Standard	NM_002301		Approved	CT32	uc001mom.4	P07864	OTTHUMG00000167722	ENST00000541669.1:c.732G>A	11.37:g.18467778G>A						LDHC_uc001mom.3_Silent_p.L244L|LDHC_uc009yhp.2_Intron|LDHC_uc001moo.3_Silent_p.L128L|LDHC_uc009yhq.2_RNA|LDHC_uc009yhr.2_Intron	p.L244L	NM_017448	NP_059144	P07864	LDHC_HUMAN			7	844	+			244					D3DQY4|Q6GSG8|Q7Z7J4	Silent	SNP	ENST00000541669.1	37	c.732G>A	CCDS7840.1																																																																																				0.373	LDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395892.1	NM_017448		6	78	0	0	0	0	6	78				
ARHGAP20	57569	broad.mit.edu	37	11	110451310	110451310	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr11:110451310C>G	ENST00000260283.4	-	16	2644	c.2360G>C	c.(2359-2361)gGa>gCa	p.G787A	ARHGAP20_ENST00000528829.1_Missense_Mutation_p.G751A|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.G751A|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.G761A|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.G761A|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.G330A|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.G764A	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	787					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CACGTGATTTCCTTCACTACC	0.413																																						uc001pkz.1		NA																	0				ovary(3)|kidney(2)	5						c.(2359-2361)GGA>GCA		Rho GTPase activating protein 20							117.0	113.0	114.0					11																	110451310		2201	4298	6499	SO:0001583	missense	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110451310C>G	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.2360G>C	11.37:g.110451310C>G	ENSP00000260283:p.Gly787Ala					ARHGAP20_uc001pky.1_Missense_Mutation_p.G764A|ARHGAP20_uc009yyb.1_Missense_Mutation_p.G751A|ARHGAP20_uc001pla.1_Missense_Mutation_p.G751A|ARHGAP20_uc001plb.2_Missense_Mutation_p.G330A	p.G787A	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	16	2645	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	787					A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	c.2360G>C	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	C	12.80	2.046284	0.36085	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000529591;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T;T	0.16743	2.32;2.33;2.42;2.32;2.34;2.33;2.34	5.18	4.26	0.50523	.	0.108239	0.41500	D	0.000862	T	0.31796	0.0808	M	0.63428	1.95	0.29406	N	0.861559	D;D;D	0.65815	0.995;0.991;0.995	P;P;P	0.61477	0.889;0.777;0.889	T	0.09314	-1.0680	10	0.72032	D	0.01	.	8.9129	0.35563	0.0:0.8421:0.0:0.1579	.	761;787;764	Q9P2F6-2;Q9P2F6;Q9P2F6-3	.;RHG20_HUMAN;.	A	787;761;330;764;751;761;751	ENSP00000260283:G787A;ENSP00000349660:G761A;ENSP00000437905:G330A;ENSP00000432076:G764A;ENSP00000436319:G751A;ENSP00000436522:G761A;ENSP00000431399:G751A	ENSP00000260283:G787A	G	-	2	0	ARHGAP20	109956520	0.883000	0.30277	0.995000	0.50966	0.164000	0.22412	1.455000	0.35190	2.426000	0.82243	0.655000	0.94253	GGA		0.413	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		5	97	0	0	0	0	5	97				
KCNJ8	3764	broad.mit.edu	37	12	21919137	21919137	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr12:21919137C>G	ENST00000240662.2	-	3	1140	c.795G>C	c.(793-795)ttG>ttC	p.L265F	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	KCNJ8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	265					defense response to virus (GO:0051607)|heart development (GO:0007507)|kidney development (GO:0001822)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to pH (GO:0009268)|synaptic transmission (GO:0007268)|vasodilation (GO:0042311)	ATP-sensitive potassium channel complex (GO:0008282)|mitochondrion (GO:0005739)|myofibril (GO:0030016)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)|inward rectifier potassium channel activity (GO:0005242)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Gliquidone(DB01251)|Glisoxepide(DB01289)|Glyburide(DB01016)|Levosimendan(DB00922)|Phenformin(DB00914)|Thiamylal(DB01154)|Yohimbine(DB01392)	GGCAGATGATCAAAGGGGCCA	0.478																																						uc001rff.2		NA																	0					0						c.(793-795)TTG>TTC		potassium inwardly-rectifying channel J8	Levosimendan(DB00922)						78.0	73.0	75.0					12																	21919137		2203	4300	6503	SO:0001583	missense	3764					voltage-gated potassium channel complex		g.chr12:21919137C>G	BC000544	CCDS8692.1	12p12.1	2011-07-05			ENSG00000121361	ENSG00000121361		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6269	protein-coding gene	gene with protein product		600935				8595887, 16382105	Standard	NM_004982		Approved	Kir6.1	uc001rff.4	Q15842	OTTHUMG00000169093	ENST00000240662.2:c.795G>C	12.37:g.21919137C>G	ENSP00000240662:p.Leu265Phe						p.L265F	NM_004982	NP_004973	Q15842	IRK8_HUMAN			3	1133	-			265			Cytoplasmic (By similarity).		O00657	Missense_Mutation	SNP	ENST00000240662.2	37	c.795G>C	CCDS8692.1	.	.	.	.	.	.	.	.	.	.	C	16.81	3.225955	0.58668	.	.	ENSG00000121361	ENST00000240662;ENST00000539350	D	0.95272	-3.66	5.35	3.5	0.40072	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.97151	0.9069	M	0.89534	3.04	0.51482	D	0.999925	D	0.89917	1.0	D	0.91635	0.999	D	0.96533	0.9394	10	0.87932	D	0	.	8.9774	0.35944	0.0:0.7384:0.1235:0.1381	.	265	Q15842	IRK8_HUMAN	F	265	ENSP00000240662:L265F	ENSP00000240662:L265F	L	-	3	2	KCNJ8	21810404	1.000000	0.71417	0.953000	0.39169	0.994000	0.84299	0.554000	0.23407	0.789000	0.33779	0.563000	0.77884	TTG		0.478	KCNJ8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402226.1	NM_004982		15	34	0	0	0	0	15	34				
FAR2	55711	broad.mit.edu	37	12	29486610	29486610	+	Silent	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr12:29486610C>T	ENST00000536681.3	+	12	1677	c.1431C>T	c.(1429-1431)atC>atT	p.I477I	FAR2_ENST00000182377.4_Silent_p.I477I|FAR2_ENST00000547116.1_Silent_p.I380I	NM_001271783.1|NM_001271784.1	NP_001258712.1|NP_001258713.1	Q96K12	FACR2_HUMAN	fatty acyl CoA reductase 2	477					cellular lipid metabolic process (GO:0044255)|ether lipid biosynthetic process (GO:0008611)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	fatty-acyl-CoA reductase (alcohol-forming) activity (GO:0080019)|long-chain-fatty-acyl-CoA reductase activity (GO:0050062)			central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|prostate(1)|stomach(1)	29						TCTTCCTTATCGCCTGGCGCC	0.428																																						uc001ris.3		NA																	0					0						c.(1429-1431)ATC>ATT		fatty acyl CoA reductase 2							228.0	224.0	225.0					12																	29486610		2203	4300	6503	SO:0001819	synonymous_variant	55711				ether lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	binding|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor	g.chr12:29486610C>T	AL136843	CCDS8717.1, CCDS61084.1	12p11.23	2013-07-30	2008-06-06	2008-06-06	ENSG00000064763	ENSG00000064763	1.2.1.-	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	25531	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 10E, member 2"""		"""male sterility domain containing 1"""	MLSTD1		15220348, 15220349, 19027726	Standard	NM_001271783		Approved	FLJ10462, SDR10E2	uc001ris.5	Q96K12	OTTHUMG00000169320	ENST00000536681.3:c.1431C>T	12.37:g.29486610C>T						FAR2_uc001rit.2_Silent_p.I477I|FAR2_uc009zjm.2_Silent_p.I380I	p.I477I	NM_018099	NP_060569	Q96K12	FACR2_HUMAN			12	1578	+			477			Helical; (Potential).		F8VV73|Q9H0D5|Q9NVW8	Silent	SNP	ENST00000536681.3	37	c.1431C>T	CCDS8717.1																																																																																				0.428	FAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403479.2	NM_018099		12	185	0	0	0	0	12	185				
SOAT2	8435	broad.mit.edu	37	12	53509201	53509201	+	Silent	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr12:53509201C>T	ENST00000301466.3	+	6	531	c.471C>T	c.(469-471)atC>atT	p.I157I		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	157					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	ACCTACTGATCTTCAGCTTCG	0.582																																						uc001sbv.2		NA																	0				ovary(1)	1						c.(469-471)ATC>ATT		acyl-CoA:cholesterol acyltransferase 2							62.0	62.0	62.0					12																	53509201		2203	4300	6503	SO:0001819	synonymous_variant	8435				cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	g.chr12:53509201C>T	AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.471C>T	12.37:g.53509201C>T						SOAT2_uc009zms.2_RNA	p.I157I	NM_003578	NP_003569	O75908	SOAT2_HUMAN			6	559	+			157			Helical; (Potential).		F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Silent	SNP	ENST00000301466.3	37	c.471C>T	CCDS8847.1																																																																																				0.582	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405817.1			3	42	0	0	0	0	3	42				
METTL7B	196410	broad.mit.edu	37	12	56075775	56075775	+	Silent	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr12:56075775C>T	ENST00000394252.3	+	1	446	c.237C>T	c.(235-237)tgC>tgT	p.C79C		NM_152637.2	NP_689850.2	Q6UX53	MET7B_HUMAN	methyltransferase like 7B	79							methyltransferase activity (GO:0008168)			kidney(1)|large_intestine(1)|lung(4)	6						AGCTGGGCTGCGGAACCGGAG	0.572																																						uc010spr.1		NA																	0					0						c.(235-237)TGC>TGT		methyltransferase like 7B precursor							56.0	55.0	55.0					12																	56075775		2203	4300	6503	SO:0001819	synonymous_variant	196410						methyltransferase activity	g.chr12:56075775C>T		CCDS8887.2	12q13.2	2012-06-12			ENSG00000170439	ENSG00000170439			28276	protein-coding gene	gene with protein product	"""associated with lipid droplets 1"""					17004324	Standard	NM_152637		Approved	MGC17301, ALDI	uc010spr.2	Q6UX53	OTTHUMG00000152665	ENST00000394252.3:c.237C>T	12.37:g.56075775C>T							p.C79C	NM_152637	NP_689850	Q6UX53	MET7B_HUMAN			1	446	+			79					A8K247|Q8WUI1	Silent	SNP	ENST00000394252.3	37	c.237C>T	CCDS8887.2																																																																																				0.572	METTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327271.1	NM_152637		9	29	0	0	0	0	9	29				
ACACB	32	broad.mit.edu	37	12	109684111	109684111	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr12:109684111A>G	ENST00000338432.7	+	39	5548	c.5429A>G	c.(5428-5430)tAc>tGc	p.Y1810C	ACACB_ENST00000543201.1_Missense_Mutation_p.Y476C|ACACB_ENST00000377854.5_Missense_Mutation_p.Y1740C|ACACB_ENST00000377848.3_Missense_Mutation_p.Y1810C			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1810	Carboxyltransferase.				acetyl-CoA metabolic process (GO:0006084)|biotin metabolic process (GO:0006768)|carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|malonyl-CoA biosynthetic process (GO:2001295)|positive regulation of cellular metabolic process (GO:0031325)|protein homotetramerization (GO:0051289)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acetyl-CoA carboxylase activity (GO:0003989)|ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Adenine(DB00173)|Biotin(DB00121)	GACCTTCTGTACCTGCGGGCA	0.562																																						uc001tob.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1)	8						c.(5428-5430)TAC>TGC		acetyl-Coenzyme A carboxylase beta	Biotin(DB00121)						76.0	80.0	78.0					12																	109684111		2203	4300	6503	SO:0001583	missense	32				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	g.chr12:109684111A>G	U89344	CCDS31898.1	12q24.1	2010-05-07	2010-04-30		ENSG00000076555	ENSG00000076555	6.4.1.2		85	protein-coding gene	gene with protein product	"""acetyl-CoA carboxylase 2"""	601557	"""acetyl-Coenzyme A carboxylase beta"""			8670171	Standard	NM_001093		Approved	HACC275, ACC2, ACCB	uc001toc.3	O00763	OTTHUMG00000169250	ENST00000338432.7:c.5429A>G	12.37:g.109684111A>G	ENSP00000341044:p.Tyr1810Cys					ACACB_uc001toc.2_Missense_Mutation_p.Y1810C|ACACB_uc010sxl.1_RNA|ACACB_uc001tod.2_RNA|ACACB_uc010sxm.1_Missense_Mutation_p.Y476C	p.Y1810C	NM_001093	NP_001084	O00763	ACACB_HUMAN			39	5548	+			1810			Carboxyltransferase.		A6NK36|Q16852|Q1HEC1|Q6KE87|Q6KE89|Q6TY48	Missense_Mutation	SNP	ENST00000338432.7	37	c.5429A>G	CCDS31898.1	.	.	.	.	.	.	.	.	.	.	A	17.90	3.503084	0.64298	.	.	ENSG00000076555	ENST00000338432;ENST00000377848;ENST00000377854;ENST00000390027;ENST00000543201;ENST00000537347	D;D;D;D	0.97529	-4.42;-4.42;-4.42;-4.42	5.24	2.44	0.29823	Carboxyl transferase (1);Acetyl-coenzyme A carboxyltransferase, N-terminal (1);	0.100364	0.64402	D	0.000002	D	0.97074	0.9044	L	0.49778	1.585	0.47819	D	0.99952	D	0.89917	1.0	D	0.77004	0.989	D	0.96274	0.9201	10	0.87932	D	0	.	9.1069	0.36703	0.4228:0.0:0.0:0.5772	.	1810	O00763	ACACB_HUMAN	C	1810;1810;1740;1041;476;135	ENSP00000341044:Y1810C;ENSP00000367079:Y1810C;ENSP00000367085:Y1740C;ENSP00000444075:Y476C	ENSP00000341044:Y1810C	Y	+	2	0	ACACB	108168494	1.000000	0.71417	0.948000	0.38648	0.644000	0.38419	4.483000	0.60264	0.901000	0.36495	0.459000	0.35465	TAC		0.562	ACACB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403077.1	NM_001093		4	107	0	0	0	0	4	107				
CIT	11113	broad.mit.edu	37	12	120166409	120166409	+	Silent	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr12:120166409G>C	ENST00000261833.7	-	27	3415	c.3363C>G	c.(3361-3363)ctC>ctG	p.L1121L	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Silent_p.L1163L	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1121	Interaction with Rho/Rac.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CCAGGTCATTGAGCTAGACAT	0.438																																						uc001txi.1		NA																	0				ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10						c.(3361-3363)CTC>CTG		citron							165.0	155.0	158.0					12																	120166409		2203	4300	6503	SO:0001819	synonymous_variant	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120166409G>C	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.3363C>G	12.37:g.120166409G>C						CIT_uc001txh.1_Silent_p.L655L|CIT_uc001txj.1_Silent_p.L1163L	p.L1121L	NM_007174	NP_009105	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	27	3416	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1121			Potential.|Interaction with Rho/Rac.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Silent	SNP	ENST00000261833.7	37	c.3363C>G	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	G	12.05	1.821830	0.32237	.	.	ENSG00000122966	ENST00000392520	.	.	.	5.29	3.44	0.39384	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.2034	0.20590	0.0715:0.1336:0.6564:0.1385	.	.	.	.	X	749	.	.	S	-	2	0	CIT	118650792	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.023000	0.30065	0.716000	0.32124	0.655000	0.94253	TCA		0.438	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		7	143	0	0	0	0	7	143				
LNX2	222484	broad.mit.edu	37	13	28136648	28136648	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr13:28136648C>A	ENST00000316334.3	-	5	1255	c.1126G>T	c.(1126-1128)Gcc>Tcc	p.A376S		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	376	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				protein homooligomerization (GO:0051260)		zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		CCGTCCTGGGCAGCCAACCCC	0.532																																						uc001url.3		NA																	0				ovary(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1)|central_nervous_system(1)	6						c.(1126-1128)GCC>TCC		ligand of numb-protein X 2							127.0	133.0	131.0					13																	28136648		2203	4300	6503	SO:0001583	missense	222484						zinc ion binding	g.chr13:28136648C>A	AL138699	CCDS9323.1	13q12.2	2013-01-09	2004-01-22	2004-01-23	ENSG00000139517	ENSG00000139517		"""RING-type (C3HC4) zinc fingers"""	20421	protein-coding gene	gene with protein product		609733	"""PDZ domain containing ring finger 1"""	PDZRN1			Standard	NM_153371		Approved	MGC46315	uc001url.4	Q8N448	OTTHUMG00000016634	ENST00000316334.3:c.1126G>T	13.37:g.28136648C>A	ENSP00000325929:p.Ala376Ser					LNX2_uc001urm.1_Missense_Mutation_p.A376S	p.A376S	NM_153371	NP_699202	Q8N448	LNX2_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)	5	1435	-		Lung SC(185;0.0156)	376			PDZ 2.		Q5W0P0|Q6ZMH2|Q96SH4	Missense_Mutation	SNP	ENST00000316334.3	37	c.1126G>T	CCDS9323.1	.	.	.	.	.	.	.	.	.	.	C	17.64	3.439992	0.63067	.	.	ENSG00000139517	ENST00000316334	T	0.28666	1.6	5.75	5.75	0.90469	PDZ/DHR/GLGF (4);	0.000000	0.85682	D	0.000000	T	0.52677	0.1749	M	0.74546	2.27	0.80722	D	1	D	0.54964	0.969	P	0.60012	0.867	T	0.40040	-0.9584	10	0.15952	T	0.53	.	19.9421	0.97168	0.0:1.0:0.0:0.0	.	376	Q8N448	LNX2_HUMAN	S	376	ENSP00000325929:A376S	ENSP00000325929:A376S	A	-	1	0	LNX2	27034648	1.000000	0.71417	0.161000	0.22692	0.499000	0.33736	7.807000	0.86032	2.714000	0.92807	0.561000	0.74099	GCC		0.532	LNX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044302.2			20	150	1	0	1.18e-14	1.4e-14	20	150				
FLT3	2322	broad.mit.edu	37	13	28609671	28609671	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr13:28609671G>C	ENST00000241453.7	-	12	1639	c.1558C>G	c.(1558-1560)Ctt>Gtt	p.L520V	FLT3_ENST00000380982.4_Missense_Mutation_p.L520V|FLT3_ENST00000537084.1_Missense_Mutation_p.L520V	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	520					B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.L520I(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	GATGTGCCAAGGGAATTGTAT	0.453			"""Mis, O"""		"""AML, ALL"""																																	uc001urw.2		NA		Dom	yes		13	13q12	2322	Mis|O	fms-related tyrosine kinase 3			L			AML|ALL		1	Substitution - Missense(1)		lung(1)	haematopoietic_and_lymphoid_tissue(8536)|lung(7)|ovary(3)|stomach(1)|central_nervous_system(1)|skin(1)	8549						c.(1558-1560)CTT>GTT		fms-related tyrosine kinase 3 precursor	Sorafenib(DB00398)|Sunitinib(DB01268)						198.0	177.0	184.0					13																	28609671		2203	4300	6503	SO:0001583	missense	2322				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	g.chr13:28609671G>C	U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1558C>G	13.37:g.28609671G>C	ENSP00000241453:p.Leu520Val					FLT3_uc010aao.2_RNA|FLT3_uc010tdn.1_Missense_Mutation_p.L520V	p.L520V	NM_004119	NP_004110	P36888	FLT3_HUMAN	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	12	1640	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	520			Extracellular (Potential).		A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	c.1558C>G	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	G	1.790	-0.479779	0.04383	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.77098	-0.98;-1.07;-0.76	5.18	-0.0933	0.13650	.	0.530965	0.17355	N	0.177245	T	0.44829	0.1312	N	0.04508	-0.205	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.38394	-0.9663	10	0.02654	T	1	.	4.2159	0.10535	0.0871:0.3857:0.3422:0.185	.	520;520	P36888-2;P36888	.;FLT3_HUMAN	V	520	ENSP00000241453:L520V;ENSP00000370369:L520V;ENSP00000438139:L520V	ENSP00000241453:L520V	L	-	1	0	FLT3	27507671	0.000000	0.05858	0.166000	0.22797	0.946000	0.59487	-0.296000	0.08287	0.009000	0.14813	-0.171000	0.13296	CTT		0.453	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2			5	84	0	0	0	0	5	84				
ZC3H13	23091	broad.mit.edu	37	13	46559752	46559752	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr13:46559752C>T	ENST00000242848.4	-	10	1748	c.1400G>A	c.(1399-1401)cGa>cAa	p.R467Q	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R467Q			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	467	Arg/Ser-rich.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TAGTTCCCTTCGGTCCCTAGT	0.507																																					Esophageal Squamous(187;747 2077 11056 31291 44172)	uc010tfw.1		NA																	0				ovary(1)|lung(1)	2						c.(1399-1401)CGA>CAA		zinc finger CCCH-type containing 13							205.0	195.0	199.0					13																	46559752		2203	4300	6503	SO:0001583	missense	23091						nucleic acid binding|zinc ion binding	g.chr13:46559752C>T	AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.1400G>A	13.37:g.46559752C>T	ENSP00000242848:p.Arg467Gln					ZC3H13_uc001vas.1_Missense_Mutation_p.R467Q|ZC3H13_uc001vat.1_Missense_Mutation_p.R467Q	p.R467Q	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)	9	1406	-		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	467			Arg/Ser-rich.		A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37	c.1400G>A		.	.	.	.	.	.	.	.	.	.	C	18.00	3.525241	0.64747	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000431251	T;T	0.31769	2.44;1.48	5.82	5.82	0.92795	.	0.000000	0.51477	D	0.000081	T	0.47488	0.1448	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.992;0.996	T	0.19582	-1.0301	10	0.35671	T	0.21	.	20.0991	0.97865	0.0:1.0:0.0:0.0	.	467;467	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	Q	467;467;283	ENSP00000242848:R467Q;ENSP00000282007:R467Q	ENSP00000242848:R467Q	R	-	2	0	ZC3H13	45457753	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	6.114000	0.71560	2.752000	0.94435	0.655000	0.94253	CGA		0.507	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070		12	181	0	0	0	0	12	181				
NEK5	341676	broad.mit.edu	37	13	52660423	52660423	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr13:52660423C>A	ENST00000355568.4	-	16	1608	c.1469G>T	c.(1468-1470)aGa>aTa	p.R490I		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	490					positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of striated muscle cell differentiation (GO:0051155)		ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		CTCTGGTTCTCTCCCCATCTT	0.363																																						uc001vge.2		NA																	0				upper_aerodigestive_tract(1)	1						c.(1468-1470)AGA>ATA		NIMA-related kinase 5							200.0	164.0	176.0					13																	52660423		2203	4300	6503	SO:0001583	missense	341676						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr13:52660423C>A	BC063885	CCDS31979.1	13q14.2	2012-11-15	2012-11-15		ENSG00000197168	ENSG00000197168			7748	protein-coding gene	gene with protein product			"""NIMA (never in mitosis gene a)-related kinase 5"""			9552363	Standard	XM_006719807		Approved		uc001vge.3	Q6P3R8	OTTHUMG00000016957	ENST00000355568.4:c.1469G>T	13.37:g.52660423C>A	ENSP00000347767:p.Arg490Ile						p.R490I	NM_199289	NP_954983	Q6P3R8	NEK5_HUMAN		GBM - Glioblastoma multiforme(99;3.7e-08)	16	1609	-		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)	490					Q5TAP5	Missense_Mutation	SNP	ENST00000355568.4	37	c.1469G>T	CCDS31979.1	.	.	.	.	.	.	.	.	.	.	C	11.77	1.737322	0.30774	.	.	ENSG00000197168	ENST00000355568	T	0.71698	-0.59	5.64	4.79	0.61399	.	0.500084	0.18952	N	0.126665	T	0.52709	0.1751	N	0.24115	0.695	0.37274	D	0.907549	P	0.36616	0.561	B	0.31337	0.128	T	0.58352	-0.7651	10	0.41790	T	0.15	.	9.5069	0.39053	0.1616:0.6825:0.1558:0.0	.	490	Q6P3R8	NEK5_HUMAN	I	490	ENSP00000347767:R490I	ENSP00000347767:R490I	R	-	2	0	NEK5	51558424	0.983000	0.35010	0.530000	0.27963	0.860000	0.49131	3.413000	0.52686	1.372000	0.46190	-0.181000	0.13052	AGA		0.363	NEK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045045.3	NM_199289		13	42	1	0	0.000151284	0.000168251	13	42				
CHD8	57680	broad.mit.edu	37	14	21870656	21870656	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr14:21870656C>T	ENST00000557364.1	-	19	3984	c.3721G>A	c.(3721-3723)Gca>Aca	p.A1241T	CHD8_ENST00000555962.1_5'UTR|CHD8_ENST00000430710.3_Missense_Mutation_p.A962T|CHD8_ENST00000399982.2_Missense_Mutation_p.A1241T			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1241	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		TGACATCGTGCCTGGGCCTGG	0.413																																						uc001was.1		NA																	0				ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1)	10						c.(2884-2886)GCA>ACA		chromodomain helicase DNA binding protein 8							54.0	52.0	53.0					14																	21870656		2203	4299	6502	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21870656C>T	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.3721G>A	14.37:g.21870656C>T	ENSP00000451601:p.Ala1241Thr					CHD8_uc001war.1_Missense_Mutation_p.A858T|CHD8_uc001wav.1_Missense_Mutation_p.A404T	p.A962T	NM_020920	NP_065971	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	19	2978	-	all_cancers(95;0.00121)		1241			Helicase C-terminal.		Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.2884G>A	CCDS53885.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	31|31	5.074105|5.074105	0.94000|0.94000	.|.	.|.	ENSG00000100888|ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364|ENST00000555935	T;T;T|.	0.75367|.	-0.93;-0.93;-0.93|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Helicase, C-terminal (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87791|0.87791	0.6266|0.6266	H|H	0.95780|0.95780	3.72|3.72	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.90477|0.90477	0.4457|0.4457	10|5	0.87932|.	D|.	0|.	-9.2226|-9.2226	18.6545|18.6545	0.91445|0.91445	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1241;962|.	Q9HCK8;Q9HCK8-2|.	CHD8_HUMAN;.|.	T|D	962;1241;961;1241|466	ENSP00000406288:A962T;ENSP00000382863:A1241T;ENSP00000451601:A1241T|.	ENSP00000262707:A961T|.	A|G	-|-	1|2	0|0	CHD8|CHD8	20940496|20940496	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.583000|7.583000	0.82559|0.82559	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCA|GGC		0.413	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		17	26	0	0	0	0	17	26				
COCH	1690	broad.mit.edu	37	14	31358870	31358870	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr14:31358870T>G	ENST00000396618.3	+	12	1582	c.1526T>G	c.(1525-1527)cTg>cGg	p.L509R	RP11-829H16.3_ENST00000556786.1_RNA|COCH_ENST00000216361.4_Missense_Mutation_p.L509R|RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000475087.1_Intron|COCH_ENST00000460581.2_Missense_Mutation_p.L397R|COCH_ENST00000382493.4_Missense_Mutation_p.L360R|RP11-829H16.3_ENST00000468444.2_RNA	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	509	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		CTGGATGACCTGAAAGATATG	0.388																																						uc001wqr.2		NA																	0				pancreas(1)|central_nervous_system(1)|skin(1)	3						c.(1525-1527)CTG>CGG		cochlin precursor							99.0	95.0	97.0					14																	31358870		2203	4300	6503	SO:0001583	missense	1690				sensory perception of sound	proteinaceous extracellular matrix		g.chr14:31358870T>G		CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"""coagulation factor C (Limulus polyphemus homolog); cochlin"", ""coagulation factor C homolog, cochlin (Limulus polyphemus)"""	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.1526T>G	14.37:g.31358870T>G	ENSP00000379862:p.Leu509Arg					COCH_uc001wqp.2_Missense_Mutation_p.L509R|COCH_uc001wqq.3_Intron|uc001wqs.2_RNA|COCH_uc001wqt.1_Missense_Mutation_p.L360R	p.L509R	NM_004086	NP_004077	O43405	COCH_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)	12	1606	+	Hepatocellular(127;0.0877)|Breast(36;0.148)		509			VWFA 2.		A8K9K9|D3DS84|Q96IU6	Missense_Mutation	SNP	ENST00000396618.3	37	c.1526T>G	CCDS9640.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.9|23.9	4.473709|4.473709	0.84640|0.84640	.|.	.|.	ENSG00000100473|ENSG00000100473	ENST00000216361;ENST00000396618;ENST00000460581;ENST00000382493|ENST00000468826	D;D;D;D|.	0.86230|.	-2.09;-2.09;-2.09;-2.09|.	5.24|5.24	5.24|5.24	0.73138|0.73138	von Willebrand factor, type A (3);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.87740|.	0.6253|.	H|H	0.96576|0.96576	3.845|3.845	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.91635|.	0.999;0.999|.	D|.	0.91894|.	0.5526|.	10|.	0.87932|.	D|.	0|.	-6.6483|-6.6483	15.1409|15.1409	0.72609|0.72609	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	360;509|.	E7EN67;O43405|.	.;COCH_HUMAN|.	R|G	509;509;397;360|393	ENSP00000216361:L509R;ENSP00000379862:L509R;ENSP00000451713:L397R;ENSP00000371933:L360R|.	ENSP00000216361:L509R|.	L|X	+|+	2|1	0|0	COCH|COCH	30428621|30428621	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.696000|7.696000	0.84270|0.84270	1.984000|1.984000	0.57885|0.57885	0.482000|0.482000	0.46254|0.46254	CTG|TGA		0.388	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276608.1	NM_004086		7	39	0	0	0	0	7	39				
FSCB	84075	broad.mit.edu	37	14	44975153	44975153	+	Silent	SNP	A	A	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr14:44975153A>T	ENST00000340446.4	-	1	1329	c.1038T>A	c.(1036-1038)ctT>ctA	p.L346L	RP11-163M18.1_ENST00000555433.1_RNA|RP11-163M18.1_ENST00000557465.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	346	Pro-rich.					sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TTTCAGCCAGAAGCTCTACAG	0.507																																						uc001wvn.2		NA																	0				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9						c.(1036-1038)CTT>CTA		fibrous sheath CABYR binding protein							71.0	82.0	78.0					14																	44975153		2203	4300	6503	SO:0001819	synonymous_variant	84075					cilium		g.chr14:44975153A>T	AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.1038T>A	14.37:g.44975153A>T							p.L346L	NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN		GBM - Glioblastoma multiforme(112;0.128)	1	1347	-			346			Pro-rich.		Q5H9U7|Q86YI2|Q9H0J3	Silent	SNP	ENST00000340446.4	37	c.1038T>A	CCDS9679.1																																																																																				0.507	FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135		13	111	0	0	0	0	13	111				
SLC39A9	55334	broad.mit.edu	37	14	69890883	69890883	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr14:69890883G>A	ENST00000336643.5	+	2	847	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K	SLC39A9_ENST00000556605.1_Missense_Mutation_p.E57K|SLC39A9_ENST00000031146.4_Missense_Mutation_p.E57K|SLC39A9_ENST00000557046.1_Missense_Mutation_p.E57K|SLC39A9_ENST00000555245.1_3'UTR	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	57					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		CATCGTGCCTGAAGGAGTACA	0.458																																						uc001xle.2		NA																	0					0						c.(169-171)GAA>AAA		solute carrier family 39 (zinc transporter),							119.0	100.0	106.0					14																	69890883		2203	4300	6503	SO:0001583	missense	55334				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr14:69890883G>A		CCDS9795.1, CCDS58327.1, CCDS58328.1	14q24.1	2013-07-17	2013-07-17			ENSG00000029364		"""Solute carriers"""	20182	protein-coding gene	gene with protein product							Standard	NM_018375		Approved	FLJ11274	uc001xle.3	Q9NUM3		ENST00000336643.5:c.169G>A	14.37:g.69890883G>A	ENSP00000336887:p.Glu57Lys					SLC39A9_uc001xld.3_RNA|SLC39A9_uc010aqx.2_Missense_Mutation_p.E57K|SLC39A9_uc001xlf.3_Missense_Mutation_p.E57K|SLC39A9_uc001xlg.3_RNA	p.E57K	NM_018375	NP_060845	Q9NUM3	S39A9_HUMAN		all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)	2	849	+			57					G3V5J8|Q53HN3|Q5MJQ0|Q6P2Q1|Q86WY2	Missense_Mutation	SNP	ENST00000336643.5	37	c.169G>A	CCDS9795.1	.	.	.	.	.	.	.	.	.	.	G	34	5.385341	0.95967	.	.	ENSG00000029364	ENST00000556605;ENST00000336643;ENST00000557046	T;T;T	0.75821	0.35;-0.97;0.5	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	D	0.89746	0.6804	M	0.92268	3.29	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	D	0.91322	0.5083	10	0.54805	T	0.06	-14.9455	19.1107	0.93315	0.0:0.0:1.0:0.0	.	57;57;57	Q9NUM3-2;G3V5J8;Q9NUM3	.;.;S39A9_HUMAN	K	57	ENSP00000452385:E57K;ENSP00000336887:E57K;ENSP00000451833:E57K	ENSP00000031146:E57K	E	+	1	0	SLC39A9	68960636	1.000000	0.71417	0.994000	0.49952	0.798000	0.45092	8.578000	0.90777	2.573000	0.86826	0.555000	0.69702	GAA		0.458	SLC39A9-009	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412446.1	NM_018375		8	37	0	0	0	0	8	37				
UNC79	57578	broad.mit.edu	37	14	94060062	94060062	+	Silent	SNP	G	G	A	rs545809831		TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr14:94060062G>A	ENST00000393151.2	+	23	3069	c.3069G>A	c.(3067-3069)ctG>ctA	p.L1023L	UNC79_ENST00000555664.1_Silent_p.L1023L|UNC79_ENST00000256339.4_Silent_p.L846L|UNC79_ENST00000553484.1_Silent_p.L1023L			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	1023					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						TCTCTCAGCTGTCTTCCCTGG	0.473																																						uc001ybv.1		NA																	0				ovary(10)|skin(4)|large_intestine(3)	17						c.(2536-2538)CTG>CTA		hypothetical protein LOC57578							254.0	218.0	230.0					14																	94060062		2203	4300	6503	SO:0001819	synonymous_variant	57578					integral to membrane		g.chr14:94060062G>A	AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.3069G>A	14.37:g.94060062G>A						KIAA1409_uc001ybs.1_Silent_p.L846L	p.L846L	NM_020818	NP_065869	Q9P2D8	UNC79_HUMAN		Epithelial(152;0.188)	20	2621	+		all_cancers(154;0.0354)|all_epithelial(191;0.216)	1023					B5MDL6|Q6ZUT7	Silent	SNP	ENST00000393151.2	37	c.2538G>A																																																																																					0.473	UNC79-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412766.1	XM_028395		27	108	0	0	0	0	27	108				
AHNAK2	113146	broad.mit.edu	37	14	105411954	105411954	+	Silent	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr14:105411954G>A	ENST00000333244.5	-	7	9953	c.9834C>T	c.(9832-9834)gtC>gtT	p.V3278V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3278						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CTGGGGCCTCGACGTCCACCT	0.607																																						uc010axc.1		NA																	0				ovary(1)	1						c.(9832-9834)GTC>GTT		AHNAK nucleoprotein 2							113.0	85.0	94.0					14																	105411954		1925	4094	6019	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105411954G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.9834C>T	14.37:g.105411954G>A						AHNAK2_uc001ypx.2_Silent_p.V3178V	p.V3278V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	9954	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	3278					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.9834C>T	CCDS45177.1																																																																																				0.607	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		30	234	0	0	0	0	30	234				
THBS1	7057	broad.mit.edu	37	15	39881288	39881288	+	Splice_Site	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr15:39881288G>A	ENST00000260356.5	+	11	1938		c.e11+1			NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1						activation of MAPK activity (GO:0000187)|behavioral response to pain (GO:0048266)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heat (GO:0034605)|cellular response to tumor necrosis factor (GO:0071356)|chronic inflammatory response (GO:0002544)|endocardial cushion development (GO:0003197)|engulfment of apoptotic cell (GO:0043652)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|immune response (GO:0006955)|negative regulation of angiogenesis (GO:0016525)|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II (GO:0002581)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cGMP-mediated signaling (GO:0010754)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of dendritic cell antigen processing and presentation (GO:0002605)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|negative regulation of plasminogen activation (GO:0010757)|outflow tract morphogenesis (GO:0003151)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood coagulation (GO:0030194)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of chemotaxis (GO:0050921)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of macrophage activation (GO:0043032)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of transforming growth factor beta1 production (GO:0032914)|positive regulation of translation (GO:0045727)|positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)|response to calcium ion (GO:0051592)|response to drug (GO:0042493)|response to endoplasmic reticulum stress (GO:0034976)|response to glucose (GO:0009749)|response to hypoxia (GO:0001666)|response to magnesium ion (GO:0032026)|response to mechanical stimulus (GO:0009612)|response to progesterone (GO:0032570)|response to testosterone (GO:0033574)|response to unfolded protein (GO:0006986)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|sarcoplasmic reticulum (GO:0016529)|secretory granule (GO:0030141)	calcium ion binding (GO:0005509)|collagen V binding (GO:0070052)|fibrinogen binding (GO:0070051)|fibroblast growth factor binding (GO:0017134)|fibronectin binding (GO:0001968)|glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|laminin binding (GO:0043236)|low-density lipoprotein particle binding (GO:0030169)|phosphatidylserine binding (GO:0001786)|proteoglycan binding (GO:0043394)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)		TGTTGATGAGGTGAGGAACTG	0.517																																						uc001zkh.2		NA																	0				ovary(3)|central_nervous_system(3)	6						c.e11+1		thrombospondin 1 precursor	Becaplermin(DB00102)						145.0	146.0	146.0					15																	39881288		2200	4297	6497	SO:0001630	splice_region_variant	7057				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding	g.chr15:39881288G>A		CCDS32194.1	15q15	2009-04-08			ENSG00000137801	ENSG00000137801			11785	protein-coding gene	gene with protein product	"""thrombospondin-1p180"""	188060				2341158, 2335352	Standard	NM_003246		Approved	TSP1, THBS, TSP, THBS-1, TSP-1	uc001zkh.3	P07996	OTTHUMG00000133665	ENST00000260356.5:c.1773+1G>A	15.37:g.39881288G>A						THBS1_uc010bbi.2_Splice_Site_p.E63_splice	p.E591_splice	NM_003246	NP_003237	P07996	TSP1_HUMAN		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	11	1952	+		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)						A8K6H4|B4E3J7|B9EGH6|Q15667|Q59E99	Splice_Site	SNP	ENST00000260356.5	37	c.1773_splice	CCDS32194.1	.	.	.	.	.	.	.	.	.	.	G	24.4	4.526051	0.85600	.	.	ENSG00000137801	ENST00000260356;ENST00000397593	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6845	0.95976	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	THBS1	37668580	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	8.804000	0.91921	2.656000	0.90262	0.655000	0.94253	.		0.517	THBS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257831.2	NM_003246	Intron	6	136	0	0	0	0	6	136				
ZSCAN2	54993	broad.mit.edu	37	15	85163919	85163919	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr15:85163919G>C	ENST00000448803.2	+	3	785	c.493G>C	c.(493-495)Gaa>Caa	p.E165Q	ZSCAN2_ENST00000358472.3_Missense_Mutation_p.E15Q|ZSCAN2_ENST00000538076.1_Missense_Mutation_p.E165Q|ZSCAN2_ENST00000327179.6_Missense_Mutation_p.E164Q|ZSCAN2_ENST00000546148.1_Missense_Mutation_p.E165Q|ZSCAN2_ENST00000541040.1_Missense_Mutation_p.E165Q|ZSCAN2_ENST00000485222.2_Missense_Mutation_p.E165Q	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	165					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		GGAAATGCCTGAAGGTGAAAG	0.473																																						uc002bkr.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(493-495)GAA>CAA		zinc finger protein 29 isoform 1							106.0	115.0	112.0					15																	85163919		2203	4299	6502	SO:0001583	missense	54993				cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:85163919G>C	BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"""-"", ""Zinc fingers, C2H2-type"""	20994	protein-coding gene	gene with protein product			"""zinc finger protein 29"""	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.493G>C	15.37:g.85163919G>C	ENSP00000410198:p.Glu165Gln					ZSCAN2_uc010bmz.1_Missense_Mutation_p.E163Q|ZSCAN2_uc010bna.2_Missense_Mutation_p.E15Q|ZSCAN2_uc010uox.1_Missense_Mutation_p.E164Q|ZSCAN2_uc010uoy.1_Missense_Mutation_p.E164Q|ZSCAN2_uc010uoz.1_Missense_Mutation_p.E164Q	p.E165Q	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)	3	719	+			165					A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Missense_Mutation	SNP	ENST00000448803.2	37	c.493G>C	CCDS10329.2	.	.	.	.	.	.	.	.	.	.	G	4.267	0.048709	0.08243	.	.	ENSG00000176371	ENST00000448803;ENST00000546148;ENST00000358472;ENST00000327179;ENST00000541040;ENST00000538076;ENST00000485222;ENST00000379353	T;T;T;T;T;T;T	0.06933	3.27;3.27;3.24;3.28;3.25;3.35;3.35	4.15	4.15	0.48705	.	0.794024	0.11133	N	0.596121	T	0.08802	0.0218	N	0.08118	0	0.09310	N	1	P;P;P;P;B	0.51933	0.949;0.911;0.718;0.612;0.037	P;B;P;B;B	0.51701	0.677;0.375;0.447;0.203;0.026	T	0.44283	-0.9338	9	.	.	.	-1.6891	13.9728	0.64252	0.0:0.0:1.0:0.0	.	165;165;165;165;165	F5H3F3;F5GY18;F5GZ04;A8K5A9;Q7Z7L9	.;.;.;.;ZSCA2_HUMAN	Q	165;165;15;164;165;165;165;146	ENSP00000410198:E165Q;ENSP00000445451:E165Q;ENSP00000351257:E15Q;ENSP00000325123:E164Q;ENSP00000441342:E165Q;ENSP00000439132:E165Q;ENSP00000440004:E165Q	.	E	+	1	0	ZSCAN2	82964923	0.002000	0.14202	0.079000	0.20413	0.020000	0.10135	1.069000	0.30641	2.139000	0.66308	0.655000	0.94253	GAA		0.473	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1	NM_017894		6	119	0	0	0	0	6	119				
IQGAP1	8826	broad.mit.edu	37	15	91020962	91020962	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr15:91020962G>C	ENST00000268182.5	+	26	3294	c.3170G>C	c.(3169-3171)aGt>aCt	p.S1057T	IQGAP1_ENST00000560738.1_Missense_Mutation_p.S485T	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1057	C1.|Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ATGGTTGTAAGTTTCAACCGT	0.408																																						uc002bpl.1		NA																	0				ovary(2)|lung(2)|central_nervous_system(2)|pancreas(1)|skin(1)	8						c.(3169-3171)AGT>ACT		IQ motif containing GTPase activating protein 1							100.0	104.0	102.0					15																	91020962		2198	4298	6496	SO:0001583	missense	8826				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity	g.chr15:91020962G>C	D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.3170G>C	15.37:g.91020962G>C	ENSP00000268182:p.Ser1057Thr						p.S1057T	NM_003870	NP_003861	P46940	IQGA1_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)		26	3271	+	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		1057			Ras-GAP.|C1.		A7MBM3	Missense_Mutation	SNP	ENST00000268182.5	37	c.3170G>C	CCDS10362.1	.	.	.	.	.	.	.	.	.	.	G	18.83	3.706472	0.68615	.	.	ENSG00000140575	ENST00000268182	T	0.79141	-1.24	5.73	5.73	0.89815	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.000000	0.85682	D	0.000000	T	0.67411	0.2890	L	0.28014	0.82	0.80722	D	1	B	0.29627	0.252	B	0.29598	0.104	T	0.63065	-0.6720	10	0.12766	T	0.61	-19.9958	18.8808	0.92354	0.0:0.0:1.0:0.0	.	1057	P46940	IQGA1_HUMAN	T	1057	ENSP00000268182:S1057T	ENSP00000268182:S1057T	S	+	2	0	IQGAP1	88821966	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	7.762000	0.85270	2.709000	0.92574	0.563000	0.77884	AGT		0.408	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1	NM_003870		5	55	0	0	0	0	5	55				
ARRDC4	91947	broad.mit.edu	37	15	98512388	98512388	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr15:98512388T>C	ENST00000268042.6	+	5	825	c.661T>C	c.(661-663)Tgt>Cgt	p.C221R	ARRDC4_ENST00000538249.1_Missense_Mutation_p.C134R	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	221					positive regulation of ubiquitin-protein transferase activity (GO:0051443)	endosome (GO:0005768)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			AATAGAAAATTGTTCCTCTCG	0.393																																						uc010bom.2		NA																	0					0						c.(661-663)TGT>CGT		arrestin domain containing 4							61.0	63.0	62.0					15																	98512388		2197	4297	6494	SO:0001583	missense	91947				signal transduction			g.chr15:98512388T>C	BC028704	CCDS10377.1	15q26.2	2005-08-16			ENSG00000140450	ENSG00000140450			28087	protein-coding gene	gene with protein product						12477932	Standard	NM_183376		Approved	FLJ36045	uc010bom.3	Q8NCT1	OTTHUMG00000149849	ENST00000268042.6:c.661T>C	15.37:g.98512388T>C	ENSP00000268042:p.Cys221Arg					ARRDC4_uc002bui.3_Missense_Mutation_p.C134R	p.C221R	NM_183376	NP_899232	Q8NCT1	ARRD4_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0417)		5	820	+	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		221					Q6NSI9	Missense_Mutation	SNP	ENST00000268042.6	37	c.661T>C	CCDS10377.1	.	.	.	.	.	.	.	.	.	.	T	18.89	3.718946	0.68844	.	.	ENSG00000140450	ENST00000538249;ENST00000268042	T;T	0.05580	3.42;3.42	5.11	5.11	0.69529	Immunoglobulin E-set (1);Arrestin, C-terminal (1);Arrestin-like, C-terminal (1);	0.143817	0.49916	D	0.000125	T	0.12050	0.0293	L	0.34521	1.04	0.80722	D	1	D;D	0.54397	0.966;0.958	P;P	0.58331	0.837;0.748	T	0.03166	-1.1065	10	0.48119	T	0.1	1.1371	11.2279	0.48895	0.0:0.0:0.1532:0.8467	.	221;134	Q8NCT1;F5H824	ARRD4_HUMAN;.	R	134;221	ENSP00000443774:C134R;ENSP00000268042:C221R	ENSP00000268042:C221R	C	+	1	0	ARRDC4	96313392	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	6.153000	0.71819	2.052000	0.61016	0.482000	0.46254	TGT		0.393	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313535.1	NM_183376		15	43	0	0	0	0	15	43				
NDUFB10	4716	broad.mit.edu	37	16	2011519	2011519	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr16:2011519C>G	ENST00000268668.6	+	3	408	c.291C>G	c.(289-291)atC>atG	p.I97M	NDUFB10_ENST00000543683.2_Missense_Mutation_p.I97M|SNORA64_ENST00000384674.1_RNA|NDUFB10_ENST00000569148.1_Missense_Mutation_p.I86M|SNORA10_ENST00000384084.1_RNA	NM_004548.2	NP_004539.1	O96000	NDUBA_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10, 22kDa	97					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			lung(1)|urinary_tract(1)	2						AAGAAATTATCAACATTATGC	0.473																																						uc002cni.2		NA																	0					0						c.(289-291)ATC>ATG		NADH dehydrogenase (ubiquinone) 1 beta	NADH(DB00157)						173.0	179.0	177.0					16																	2011519		2199	4300	6499	SO:0001583	missense	4716				mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	g.chr16:2011519C>G	AF044954	CCDS10451.1	16p13.3	2011-07-04	2002-08-29		ENSG00000140990	ENSG00000140990		"""Mitochondrial respiratory chain complex / Complex I"""	7696	protein-coding gene	gene with protein product	"""complex I PDSW subunit"""	603843	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 10 (22kD, PDSW)"""			9763677, 9878551	Standard	NM_004548		Approved	PDSW	uc002cni.2	O96000	OTTHUMG00000128709	ENST00000268668.6:c.291C>G	16.37:g.2011519C>G	ENSP00000268668:p.Ile97Met					NDUFB10_uc002cnj.2_Missense_Mutation_p.I97M	p.I97M	NM_004548	NP_004539	O96000	NDUBA_HUMAN			3	400	+			97					Q96II6	Missense_Mutation	SNP	ENST00000268668.6	37	c.291C>G	CCDS10451.1	.	.	.	.	.	.	.	.	.	.	C	9.392	1.075818	0.20227	.	.	ENSG00000140990	ENST00000268668;ENST00000543683	.	.	.	5.39	0.835	0.18886	.	0.442058	0.25503	N	0.030221	T	0.15912	0.0383	N	0.03608	-0.345	0.21416	N	0.999695	B;B	0.22541	0.012;0.071	B;B	0.27076	0.009;0.076	T	0.24261	-1.0165	9	0.62326	D	0.03	-10.8874	7.756	0.28925	0.0:0.4215:0.4157:0.1628	.	97;97	Q96II6;O96000	.;NDUBA_HUMAN	M	97	.	ENSP00000268668:I97M	I	+	3	3	NDUFB10	1951520	0.997000	0.39634	0.895000	0.35142	0.038000	0.13279	0.287000	0.18920	0.634000	0.30469	0.655000	0.94253	ATC		0.473	NDUFB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250614.2	NM_004548		6	192	0	0	0	0	6	192				
C16orf45	89927	broad.mit.edu	37	16	15677026	15677026	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr16:15677026G>A	ENST00000300006.4	+	5	792	c.433G>A	c.(433-435)Gac>Aac	p.D145N	C16orf45_ENST00000565913.1_3'UTR|C16orf45_ENST00000561692.1_Missense_Mutation_p.D97N|C16orf45_ENST00000566490.1_Intron|C16orf45_ENST00000452191.2_Missense_Mutation_p.D128N	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	145										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						GCAAGAAGAAGACAAGGAAAT	0.388																																						uc002ddo.2		NA																	0				ovary(1)	1						c.(433-435)GAC>AAC		hypothetical protein LOC89927 isoform 1							132.0	129.0	130.0					16																	15677026		2197	4300	6497	SO:0001583	missense	89927							g.chr16:15677026G>A	AK057180	CCDS10561.1, CCDS45422.1	16p13.2	2012-10-09			ENSG00000166780	ENSG00000166780			19213	protein-coding gene	gene with protein product							Standard	NM_033201		Approved	FLJ32618	uc002ddo.3	Q96MC5	OTTHUMG00000129883	ENST00000300006.4:c.433G>A	16.37:g.15677026G>A	ENSP00000300006:p.Asp145Asn					C16orf45_uc002ddp.2_Missense_Mutation_p.D128N	p.D145N	NM_033201	NP_149978	Q96MC5	CP045_HUMAN			5	619	+			145					O00223|O75769|Q8IZ36|Q96H25	Missense_Mutation	SNP	ENST00000300006.4	37	c.433G>A	CCDS10561.1	.	.	.	.	.	.	.	.	.	.	G	32	5.162849	0.94727	.	.	ENSG00000166780	ENST00000300006;ENST00000452191	T;T	0.60040	0.22;0.22	5.5	5.5	0.81552	Domain of unknown function DUF3585 (1);	0.000000	0.85682	D	0.000000	T	0.79953	0.4535	M	0.85630	2.765	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.87578	0.997;0.998	T	0.82969	-0.0193	10	0.87932	D	0	-18.7479	18.9711	0.92715	0.0:0.0:1.0:0.0	.	89;145	B4DE25;Q96MC5	.;CP045_HUMAN	N	145;128	ENSP00000300006:D145N;ENSP00000408976:D128N	ENSP00000300006:D145N	D	+	1	0	C16orf45	15584527	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.318000	0.89990	2.548000	0.85928	0.650000	0.86243	GAC		0.388	C16orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252130.2	NM_033201		17	104	0	0	0	0	17	104				
RBBP6	5930	broad.mit.edu	37	16	24552017	24552017	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr16:24552017A>G	ENST00000319715.4	+	1	502	c.70A>G	c.(70-72)Atc>Gtc	p.I24V	RBBP6_ENST00000452655.2_Missense_Mutation_p.I24V|RBBP6_ENST00000381039.3_Missense_Mutation_p.I24V|RBBP6_ENST00000348022.2_Missense_Mutation_p.I24V	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	24	DWNN. {ECO:0000255|PROSITE- ProRule:PRU00612}.				embryonic organ development (GO:0048568)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|somite development (GO:0061053)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TGGGCTCCACATCTCCCTCTG	0.483																																						uc002dmh.2		NA																	0				ovary(3)|pancreas(1)	4						c.(70-72)ATC>GTC		retinoblastoma-binding protein 6 isoform 1							124.0	114.0	117.0					16																	24552017		2197	4300	6497	SO:0001583	missense	5930				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:24552017A>G		CCDS10621.1, CCDS10622.1, CCDS45444.1	16p12.2	2008-08-04	2001-11-28		ENSG00000122257	ENSG00000122257			9889	protein-coding gene	gene with protein product	"""proliferation potential-related protein"""	600938	"""retinoblastoma-binding protein 6"""			8595913, 16396680	Standard	NM_006910		Approved	P2P-R, PACT, SNAMA	uc002dmh.3	Q7Z6E9	OTTHUMG00000096991	ENST00000319715.4:c.70A>G	16.37:g.24552017A>G	ENSP00000317872:p.Ile24Val					RBBP6_uc010vcb.1_Intron|RBBP6_uc002dmg.2_Missense_Mutation_p.I24V|RBBP6_uc002dmi.2_Missense_Mutation_p.I24V|RBBP6_uc010bxr.2_Missense_Mutation_p.I24V	p.I24V	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN		GBM - Glioblastoma multiforme(48;0.0518)	1	1110	+			24			DWNN.		Q147T5|Q15290|Q6DKH4|Q6P4C2|Q6YNC9|Q7Z6E8|Q8N0V2|Q96PH3|Q9H3I8|Q9H5M5|Q9NPX4	Missense_Mutation	SNP	ENST00000319715.4	37	c.70A>G	CCDS10621.1	.	.	.	.	.	.	.	.	.	.	A	14.87	2.664609	0.47572	.	.	ENSG00000122257	ENST00000381039;ENST00000452655;ENST00000319715;ENST00000348022	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.44	5.44	0.79542	DWNN domain (2);	0.000000	0.85682	D	0.000000	T	0.61578	0.2358	M	0.63843	1.955	0.58432	D	0.99999	P;P;P;P	0.51057	0.715;0.565;0.619;0.941	P;B;B;P	0.51701	0.653;0.255;0.372;0.677	T	0.65290	-0.6204	10	0.59425	D	0.04	-9.0005	14.3191	0.66473	1.0:0.0:0.0:0.0	.	24;24;24;24	Q7Z6E9-4;Q7Z6E9-2;Q7Z6E9;Q7Z6E9-3	.;.;RBBP6_HUMAN;.	V	24	ENSP00000370427:I24V;ENSP00000390537:I24V;ENSP00000317872:I24V;ENSP00000316291:I24V	ENSP00000317872:I24V	I	+	1	0	RBBP6	24459518	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.790000	0.75115	2.063000	0.61619	0.533000	0.62120	ATC		0.483	RBBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214067.2	NM_006910		14	59	0	0	0	0	14	59				
ZNF48	197407	broad.mit.edu	37	16	30410135	30410135	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr16:30410135G>T	ENST00000320159.2	+	2	1940	c.1564G>T	c.(1564-1566)Ggc>Tgc	p.G522C	SEPT1_ENST00000570039.1_5'Flank	NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	522	Pro-rich.				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)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						TAACCCACCTGGCCCAGTACC	0.677																																						uc002dya.1		NA																	0					0						c.(1564-1566)GGC>TGC		zinc finger protein 48							74.0	76.0	75.0					16																	30410135		2197	4299	6496	SO:0001583	missense	197407				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:30410135G>T	M88358, AK056313	CCDS10679.1, CCDS73868.1	16p11.2	2013-01-08			ENSG00000180035	ENSG00000180035		"""Zinc fingers, C2H2-type"""	13114	protein-coding gene	gene with protein product			"""zinc finger protein 553"""	ZNF553		1505991	Standard	NM_152652		Approved	DKFZp762K013, FLJ31751, MGC43952	uc021tgi.1	Q96MX3	OTTHUMG00000048195	ENST00000320159.2:c.1564G>T	16.37:g.30410135G>T	ENSP00000324056:p.Gly522Cys					ZNF48_uc002dxz.1_Missense_Mutation_p.G399C	p.G522C	NM_152652	NP_689865	Q96MX3	ZNF48_HUMAN			2	1623	+			522			Pro-rich.		Q15920|Q4G0R3|Q69YP3|Q96IL9	Missense_Mutation	SNP	ENST00000320159.2	37	c.1564G>T	CCDS10679.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.615951	0.46631	.	.	ENSG00000180035	ENST00000495929;ENST00000320159	T	0.08370	3.1	4.42	4.42	0.53409	.	0.000000	0.39475	N	0.001353	T	0.11623	0.0283	N	0.19112	0.55	0.33093	D	0.538141	D	0.76494	0.999	P	0.60012	0.867	T	0.04229	-1.0967	10	0.87932	D	0	-3.3062	8.4729	0.32997	0.1047:0.0:0.8953:0.0	.	522	Q96MX3	ZNF48_HUMAN	C	647;522	ENSP00000324056:G522C	ENSP00000324056:G522C	G	+	1	0	ZNF48	30317636	0.067000	0.21026	0.994000	0.49952	0.987000	0.75469	0.987000	0.29603	2.453000	0.82957	0.557000	0.71058	GGC		0.677	ZNF48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255549.2	NM_152652		5	110	1	0	0.00116845	0.00127175	5	110				
NLRC5	84166	broad.mit.edu	37	16	57101666	57101666	+	Silent	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr16:57101666C>T	ENST00000262510.6	+	36	4650	c.4425C>T	c.(4423-4425)ctC>ctT	p.L1475L	NLRC5_ENST00000539144.1_Silent_p.L1446L|NLRC5_ENST00000308149.7_Silent_p.L1446L|NLRC5_ENST00000436936.1_Silent_p.L1475L	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1475					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGGTTAACCTCTGTGAGGACG	0.507																																						uc002ekk.1		NA																	0				ovary(4)|skin(2)|breast(1)	7						c.(4423-4425)CTC>CTT		nucleotide-binding oligomerization domains 27							163.0	142.0	149.0					16																	57101666		2198	4300	6498	SO:0001819	synonymous_variant	84166				defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	g.chr16:57101666C>T	AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.4425C>T	16.37:g.57101666C>T						NLRC5_uc010ccr.1_RNA|NLRC5_uc010ccs.1_RNA|NLRC5_uc002eko.1_RNA|NLRC5_uc002ekq.1_Silent_p.L17L|NLRC5_uc002ekr.1_Silent_p.L362L	p.L1475L	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN			36	4650	+		all_neural(199;0.225)	1475			LRR 15.		B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Silent	SNP	ENST00000262510.6	37	c.4425C>T	CCDS10773.1																																																																																				0.507	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257346.1	NM_032206		5	79	0	0	0	0	5	79				
EDC4	23644	broad.mit.edu	37	16	67913808	67913808	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr16:67913808G>T	ENST00000358933.5	+	16	2116	c.1877G>T	c.(1876-1878)aGc>aTc	p.S626I	CTC-479C5.10_ENST00000572067.1_lincRNA|AC040162.1_ENST00000408599.1_RNA	NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	626	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		agcagcagtagcagcagcTCC	0.607																																						uc002eur.2		NA																	0				ovary(2)|central_nervous_system(2)	4						c.(1876-1878)AGC>ATC		autoantigen RCD8							37.0	34.0	35.0					16																	67913808		2197	4295	6492	SO:0001583	missense	23644				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding	g.chr16:67913808G>T	U17474	CCDS10849.1	16q22.1	2008-02-05			ENSG00000038358	ENSG00000038358			17157	protein-coding gene	gene with protein product		606030				9067524	Standard	NM_014329		Approved	RCD-8, Ge-1, HEDLS	uc002eur.3	Q6P2E9	OTTHUMG00000137543	ENST00000358933.5:c.1877G>T	16.37:g.67913808G>T	ENSP00000351811:p.Ser626Ile					EDC4_uc010cer.2_Missense_Mutation_p.S245I|EDC4_uc010vkg.1_Missense_Mutation_p.S558I|EDC4_uc002eus.2_Missense_Mutation_p.S356I|EDC4_uc002eut.1_5'Flank	p.S626I	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	16	2043	+		Ovarian(137;0.0563)	626			Ser-rich.		A6NGM1|A8K4T4|Q13025|Q13826|Q6ZR12|Q7Z6H7	Missense_Mutation	SNP	ENST00000358933.5	37	c.1877G>T	CCDS10849.1	.	.	.	.	.	.	.	.	.	.	G	11.34	1.608969	0.28623	.	.	ENSG00000038358	ENST00000358933;ENST00000536072	.	.	.	4.07	4.07	0.47477	.	0.225622	0.64402	D	0.000010	T	0.40473	0.1118	N	0.19112	0.55	0.36921	D	0.891388	B;B	0.21452	0.027;0.056	B;B	0.17722	0.006;0.019	T	0.46569	-0.9182	9	0.46703	T	0.11	-0.5127	10.5738	0.45214	0.0:0.0:0.8069:0.1931	.	558;626	B7Z7V8;Q6P2E9	.;EDC4_HUMAN	I	626;558	.	ENSP00000351811:S626I	S	+	2	0	EDC4	66471309	1.000000	0.71417	1.000000	0.80357	0.924000	0.55760	1.628000	0.37060	2.127000	0.65507	0.655000	0.94253	AGC		0.607	EDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268874.2	NM_014329		20	49	1	0	5.35e-07	6.22e-07	20	49				
HYDIN	54768	broad.mit.edu	37	16	70867859	70867859	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr16:70867859C>A	ENST00000393567.2	-	79	13760	c.13610G>T	c.(13609-13611)gGa>gTa	p.G4537V		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4537					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CACCACGGGTCCAAAGGGAAT	0.587																																						uc002ezr.2		NA																	0				ovary(1)|skin(1)	2						c.(13606-13608)GGA>GTA		hydrocephalus inducing isoform a							22.0	24.0	23.0					16																	70867859		1989	4146	6135	SO:0001583	missense	54768							g.chr16:70867859C>A	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.13610G>T	16.37:g.70867859C>A	ENSP00000377197:p.Gly4537Val					HYDIN_uc010cfy.2_RNA	p.G4536V	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN			79	13735	-		Ovarian(137;0.0654)	4537					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	c.13607G>T	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	15.82	2.947408	0.53186	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01304	5.03	4.68	4.68	0.58851	.	0.000000	0.32488	U	0.006024	T	0.09992	0.0245	M	0.83953	2.67	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.01276	-1.1398	10	0.72032	D	0.01	.	17.1948	0.86890	0.0:1.0:0.0:0.0	.	4536	F8WD23	.	V	4537;4536	ENSP00000377197:G4537V	ENSP00000313052:G4536V	G	-	2	0	HYDIN	69425360	1.000000	0.71417	0.087000	0.20705	0.020000	0.10135	5.632000	0.67819	2.149000	0.67028	0.511000	0.50034	GGA		0.587	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			7	11	1	0	2.18e-05	2.46e-05	7	11				
MYO1C	4641	broad.mit.edu	37	17	1387008	1387008	+	Silent	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr17:1387008G>A	ENST00000575158.1	-	3	314	c.138C>T	c.(136-138)ggC>ggT	p.G46G	MYO1C_ENST00000359786.5_Silent_p.G81G|MYO1C_ENST00000573198.1_5'Flank|MYO1C_ENST00000545534.2_Silent_p.G57G|MYO1C_ENST00000438665.2_Silent_p.G62G|MYO1C_ENST00000361007.2_Silent_p.G46G			Q12965	MYO1E_HUMAN	myosin IC	53	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCAGGACGGGGCCAATGTAGG	0.592																																						uc002fsp.2		NA																	0					0						c.(241-243)GGC>GGT		myosin IC isoform a							32.0	31.0	32.0					17																	1387008		2203	4299	6502	SO:0001819	synonymous_variant	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:1387008G>A	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.138C>T	17.37:g.1387008G>A						MYO1C_uc002fsn.2_Silent_p.G62G|MYO1C_uc002fso.2_Silent_p.G46G|MYO1C_uc010vqj.1_Silent_p.G46G|MYO1C_uc010vqk.1_Silent_p.G57G	p.G81G	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	3	463	-			81			Myosin head-like.		Q14778	Silent	SNP	ENST00000575158.1	37	c.243C>T	CCDS11003.1																																																																																				0.592	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			3	16	0	0	0	0	3	16				
PRPF8	10594	broad.mit.edu	37	17	1562841	1562841	+	Splice_Site	SNP	C	C	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr17:1562841C>A	ENST00000572621.1	-	31	5213	c.4948G>T	c.(4948-4950)Gat>Tat	p.D1650Y	PRPF8_ENST00000304992.6_Splice_Site_p.D1650Y			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1650	Restriction endonuclease homology domain.				gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCCATCACATCCCTGAGGATG	0.527																																						uc002fte.2		NA																	0				lung(4)|ovary(2)	6						c.(4948-4950)GAT>TAT		U5 snRNP-specific protein							94.0	86.0	89.0					17																	1562841		2203	4300	6503	SO:0001630	splice_region_variant	10594					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	g.chr17:1562841C>A	AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.4947-1G>T	17.37:g.1562841C>A							p.D1650Y	NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)	32	5062	-			1650					O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	c.4948G>T	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	c	25.4	4.638176	0.87760	.	.	ENSG00000174231	ENST00000304992;ENST00000540177	D	0.83673	-1.75	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	D	0.94394	0.8197	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95169	0.8288	10	0.87932	D	0	-6.847	20.3363	0.98740	0.0:1.0:0.0:0.0	.	1650	Q6P2Q9	PRP8_HUMAN	Y	1650;177	ENSP00000304350:D1650Y	ENSP00000304350:D1650Y	D	-	1	0	PRPF8	1509591	1.000000	0.71417	1.000000	0.80357	0.777000	0.43975	7.738000	0.84966	2.814000	0.96858	0.563000	0.77884	GAT		0.527	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2		Missense_Mutation	9	78	1	0	0.000274275	0.000300357	9	78				
MYOCD	93649	broad.mit.edu	37	17	12666526	12666526	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr17:12666526C>G	ENST00000343344.4	+	13	2382	c.2382C>G	c.(2380-2382)atC>atG	p.I794M	MYOCD_ENST00000425538.1_Missense_Mutation_p.I842M|RP11-1090M7.1_ENST00000584772.1_RNA			Q8IZQ8	MYCD_HUMAN	myocardin	794					cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|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 transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCAGCCAGATCCCCTTTGATC	0.483																																						uc002gnn.2		NA																	0				central_nervous_system(2)|skin(2)|ovary(1)	5						c.(2380-2382)ATC>ATG		myocardin isoform 2							103.0	99.0	100.0					17																	12666526		2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12666526C>G	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.2382C>G	17.37:g.12666526C>G	ENSP00000341835:p.Ile794Met					MYOCD_uc002gno.2_Missense_Mutation_p.I842M|MYOCD_uc002gnq.2_Missense_Mutation_p.I518M	p.I794M	NM_153604	NP_705832	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	13	2681	+			794					Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.2382C>G	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	C	2.329	-0.353774	0.05173	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000443061	T;T	0.43294	0.97;0.95	6.08	-4.92	0.03075	.	1.026510	0.07696	N	0.939537	T	0.18923	0.0454	N	0.08118	0	0.34514	D	0.707444	B;B;B	0.10296	0.003;0.002;0.0	B;B;B	0.10450	0.001;0.005;0.002	T	0.10497	-1.0627	10	0.46703	T	0.11	-3.1273	5.2975	0.15760	0.0973:0.1573:0.5115:0.2338	.	518;842;794	E9PEP9;Q8IZQ8-3;Q8IZQ8	.;.;MYCD_HUMAN	M	518;842;794;504	ENSP00000341835:I794M;ENSP00000400148:I504M	ENSP00000341835:I794M	I	+	3	3	MYOCD	12607251	0.000000	0.05858	0.008000	0.14137	0.143000	0.21401	-1.196000	0.03041	-0.665000	0.05317	-0.910000	0.02820	ATC		0.483	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		6	110	0	0	0	0	6	110				
SREBF1	6720	broad.mit.edu	37	17	17718569	17718569	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr17:17718569G>A	ENST00000261646.5	-	13	2642	c.2458C>T	c.(2458-2460)Ccc>Tcc	p.P820S	SREBF1_ENST00000338854.5_Missense_Mutation_p.P820S|SREBF1_ENST00000395757.1_Missense_Mutation_p.P566S|MIR33B_ENST00000385104.1_RNA|SREBF1_ENST00000355815.4_Missense_Mutation_p.P850S	NM_004176.4	NP_004167.3	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	820					aging (GO:0007568)|cellular lipid metabolic process (GO:0044255)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|cholesterol metabolic process (GO:0008203)|circadian rhythm (GO:0007623)|insulin receptor signaling pathway (GO:0008286)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|negative regulation of insulin secretion (GO:0046676)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of fatty acid metabolic process (GO:0019217)|regulation of heart rate by chemical signal (GO:0003062)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|response to food (GO:0032094)|response to glucagon (GO:0033762)|response to glucose (GO:0009749)|response to progesterone (GO:0032570)|response to retinoic acid (GO:0032526)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|sterol response element binding (GO:0032810)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CTGGGGTTGGGCTGGGTCACA	0.617																																						uc002gru.1		NA																	0				skin(1)	1						c.(2458-2460)CCC>TCC		sterol regulatory element binding transcription							102.0	99.0	100.0					17																	17718569		2203	4300	6503	SO:0001583	missense	6720				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding	g.chr17:17718569G>A	BC057388	CCDS11189.1, CCDS32583.1	17p11.2	2013-05-21			ENSG00000072310	ENSG00000072310		"""Basic helix-loop-helix proteins"""	11289	protein-coding gene	gene with protein product		184756				8402897, 7759101	Standard	NM_001005291		Approved	SREBP1, bHLHd1, SREBP-1c	uc002grt.2	P36956	OTTHUMG00000059313	ENST00000261646.5:c.2458C>T	17.37:g.17718569G>A	ENSP00000261646:p.Pro820Ser					SREBF1_uc002grp.1_Missense_Mutation_p.P439S|SREBF1_uc002grq.1_Missense_Mutation_p.P339S|SREBF1_uc002grr.1_Missense_Mutation_p.P566S|SREBF1_uc002grs.1_Missense_Mutation_p.P796S|SREBF1_uc002grt.1_Missense_Mutation_p.P850S|MIR33B_hsa-mir-33b|MI0003646_5'Flank	p.P820S	NM_004176	NP_004167	P36956	SRBP1_HUMAN			13	2652	-			820			Cytoplasmic (Potential).		B0I4X3|B0I4X4|D3DXC4|Q16062|Q59F52|Q6P4R7|Q6PFW7|Q6PJ36|Q8TAK9	Missense_Mutation	SNP	ENST00000261646.5	37	c.2458C>T	CCDS11189.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	16.27|16.27	3.075085|3.075085	0.55646|0.55646	.|.	.|.	ENSG00000072310|ENSG00000072310	ENST00000395751|ENST00000338854;ENST00000355815;ENST00000261646;ENST00000395757;ENST00000395756;ENST00000418712;ENST00000423161;ENST00000447641	.|T;T;T;T	.|0.18657	.|2.2;2.2;2.2;2.2	5.45|5.45	5.45|5.45	0.79879|0.79879	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.45875|0.45875	0.1364|0.1364	M|M	0.62266|0.62266	1.93|1.93	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|0.982;1.0;1.0	.|P;D;D	.|0.97110	.|0.772;0.999;1.0	T|T	0.28490|0.28490	-1.0042|-1.0042	5|10	.|0.51188	.|T	.|0.08	-26.3678|-26.3678	18.0461|18.0461	0.89332|0.89332	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|820;850;439	.|P36956;P36956-4;A8MTU8	.|SRBP1_HUMAN;.;.	V|S	827|820;850;820;566;439;657;746;145	.|ENSP00000345822:P820S;ENSP00000348069:P850S;ENSP00000261646:P820S;ENSP00000379106:P566S	.|ENSP00000261646:P820S	A|P	-|-	2|1	0|0	SREBF1|SREBF1	17659294|17659294	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.930000|0.930000	0.56654|0.56654	7.188000|7.188000	0.77739|0.77739	2.562000|2.562000	0.86427|0.86427	0.556000|0.556000	0.70494|0.70494	GCC|CCC		0.617	SREBF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131771.1	NM_004176		8	104	0	0	0	0	8	104				
MYO15A	51168	broad.mit.edu	37	17	18040913	18040913	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr17:18040913A>G	ENST00000205890.5	+	16	5133	c.4795A>G	c.(4795-4797)Agc>Ggc	p.S1599G		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1599	Myosin motor.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GAGCTTCAACAGCTTTGAGCA	0.532																																						uc010vxh.1		NA																	0				skin(4)|ovary(2)|pancreas(1)|breast(1)|central_nervous_system(1)	9						c.(4795-4797)AGC>GGC		myosin XV							68.0	74.0	72.0					17																	18040913		2060	4208	6268	SO:0001583	missense	51168				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:18040913A>G	AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.4795A>G	17.37:g.18040913A>G	ENSP00000205890:p.Ser1599Gly						p.S1599G	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN			15	5133	+	all_neural(463;0.228)		1599			Myosin head-like.		B4DFC7	Missense_Mutation	SNP	ENST00000205890.5	37	c.4795A>G	CCDS42271.1	.	.	.	.	.	.	.	.	.	.	A	17.70	3.455369	0.63401	.	.	ENSG00000091536	ENST00000205890	D	0.90444	-2.67	5.66	4.55	0.56014	Myosin head, motor domain (3);	.	.	.	.	D	0.93973	0.8070	M	0.70108	2.13	0.80722	D	1	D	0.71674	0.998	D	0.71870	0.975	D	0.92926	0.6359	9	0.42905	T	0.14	.	12.7117	0.57094	0.8623:0.1377:0.0:0.0	.	1599	Q9UKN7	MYO15_HUMAN	G	1599	ENSP00000205890:S1599G	ENSP00000205890:S1599G	S	+	1	0	MYO15A	17981638	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.211000	0.95120	0.945000	0.37605	0.533000	0.62120	AGC		0.532	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132048.1	NM_016239		5	56	0	0	0	0	5	56				
KIAA0100	9703	broad.mit.edu	37	17	26948139	26948139	+	Silent	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr17:26948139G>A	ENST00000528896.2	-	28	5183	c.5109C>T	c.(5107-5109)atC>atT	p.I1703I	KIAA0100_ENST00000544884.1_Silent_p.I1560I|KIAA0100_ENST00000579924.2_5'Flank|KIAA0100_ENST00000389003.3_Silent_p.I1560I	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	1703						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					AACGCGAAATGATCCGCTGGA	0.448																																						uc002hbu.2		NA																	0				ovary(2)|breast(1)|skin(1)	4						c.(5107-5109)ATC>ATT		hypothetical protein LOC9703 precursor							87.0	79.0	82.0					17																	26948139		2203	4300	6503	SO:0001819	synonymous_variant	9703					extracellular region		g.chr17:26948139G>A	D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.5109C>T	17.37:g.26948139G>A						KIAA0100_uc002hbt.2_Silent_p.I32I	p.I1703I	NM_014680	NP_055495	Q14667	K0100_HUMAN			28	5208	-	Lung NSC(42;0.00431)		1703					A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Silent	SNP	ENST00000528896.2	37	c.5109C>T	CCDS32595.1																																																																																				0.448	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390571.3	NM_014680		4	64	0	0	0	0	4	64				
AOC3	8639	broad.mit.edu	37	17	41004139	41004139	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr17:41004139C>T	ENST00000308423.2	+	1	939	c.779C>T	c.(778-780)aCt>aTt	p.T260I	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	260					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	GCCCGCTGGACTATCCAGAAG	0.597																																					NSCLC(3;192 220 10664 11501 16477)	uc002ibv.2		NA																	0				central_nervous_system(2)|ovary(1)|skin(1)	4						c.(778-780)ACT>ATT		amine oxidase, copper containing 3 precursor	Hydralazine(DB01275)|Phenelzine(DB00780)						26.0	23.0	24.0					17																	41004139		2201	4295	6496	SO:0001583	missense	8639				amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity	g.chr17:41004139C>T	AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.779C>T	17.37:g.41004139C>T	ENSP00000312326:p.Thr260Ile						p.T260I	NM_003734	NP_003725	Q16853	AOC3_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.156)	1	939	+		Breast(137;0.000143)	260			Extracellular (Potential).		B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	37	c.779C>T	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	C	8.953	0.968742	0.18659	.	.	ENSG00000131471	ENST00000308423	T	0.18174	2.23	4.29	1.13	0.20643	Copper amine oxidase, N3-terminal (1);Copper amine oxidase, N2/N3-terminal (1);Copper amine oxidase, N-terminal (1);	1.010830	0.07936	N	0.978341	T	0.23492	0.0568	M	0.71581	2.175	0.09310	N	0.999998	B	0.28233	0.204	B	0.33121	0.158	T	0.35251	-0.9796	10	0.36615	T	0.2	.	10.2074	0.43120	0.231:0.318:0.451:0.0	.	260	Q16853	AOC3_HUMAN	I	260	ENSP00000312326:T260I	ENSP00000312326:T260I	T	+	2	0	AOC3	38257665	0.000000	0.05858	0.942000	0.38095	0.724000	0.41520	-0.340000	0.07821	0.102000	0.17638	-0.440000	0.05779	ACT		0.597	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734		9	40	0	0	0	0	9	40				
GPATCH8	23131	broad.mit.edu	37	17	42475597	42475597	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr17:42475597G>A	ENST00000591680.1	-	8	3878	c.3848C>T	c.(3847-3849)gCa>gTa	p.A1283V	GPATCH8_ENST00000434000.1_Missense_Mutation_p.A1205V	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1283							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ACTGGGAGGTGCATAACTGGG	0.592																																						uc002igw.1		NA																	0				ovary(2)|kidney(1)|skin(1)	4						c.(3847-3849)GCA>GTA		G patch domain containing 8							128.0	122.0	124.0					17																	42475597		2203	4300	6503	SO:0001583	missense	23131					intracellular	nucleic acid binding|zinc ion binding	g.chr17:42475597G>A	AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.3848C>T	17.37:g.42475597G>A	ENSP00000467556:p.Ala1283Val					GPATCH8_uc002igv.1_Missense_Mutation_p.A1205V|GPATCH8_uc010wiz.1_Missense_Mutation_p.A1205V	p.A1283V	NM_001002909	NP_001002909	Q9UKJ3	GPTC8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.206)	8	3912	-		Prostate(33;0.0181)	1283					B9EGP9|O60300|Q8TB99	Missense_Mutation	SNP	ENST00000591680.1	37	c.3848C>T	CCDS32666.1	.	.	.	.	.	.	.	.	.	.	G	0.004	-2.312011	0.00237	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	T	0.12361	2.69	4.76	3.8	0.43715	.	0.210075	0.41500	D	0.000875	T	0.05135	0.0137	N	0.12182	0.205	0.37206	D	0.904601	B	0.17852	0.024	B	0.10450	0.005	T	0.26643	-1.0097	10	0.02654	T	1	-12.3244	4.0762	0.09906	0.235:0.1913:0.5737:0.0	.	1283	Q9UKJ3	GPTC8_HUMAN	V	1283;1205	ENSP00000395016:A1205V	ENSP00000335486:A1283V	A	-	2	0	GPATCH8	39831123	0.979000	0.34478	0.990000	0.47175	0.198000	0.23893	2.730000	0.47335	1.230000	0.43646	-0.252000	0.11476	GCA		0.592	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457797.1	NM_001002909		7	177	0	0	0	0	7	177				
DNAH17	8632	broad.mit.edu	37	17	76506502	76506502	+	Silent	SNP	G	G	A	rs367883034		TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr17:76506502G>A	ENST00000585328.1	-	27	4315	c.4191C>T	c.(4189-4191)atC>atT	p.I1397I	DNAH17_ENST00000389840.5_Silent_p.I1396I	NM_173628.3	NP_775899.3	Q9UFH2	DYH17_HUMAN	dynein, axonemal, heavy chain 17	1396	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(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CCTTGTCCACGATGTTGCGGA	0.532																																						uc010wtu.1		NA																	0				ovary(6)|breast(2)|skin(1)	9						c.(73-75)ATC>ATT		full-length cDNA clone CS0DJ002YI14 of T cells (Jurkat cell line) Cot 10-normalized of Homo sapiens (human).		G		0,4200		0,0,2100	172.0	174.0	173.0		4200	-0.9	1.0	17		173	1,8435		0,1,4217	no	coding-synonymous	DNAH17	NM_173628.3		0,1,6317	AA,AG,GG		0.0119,0.0,0.0079		1400/4463	76506502	1,12635	2100	4218	6318	SO:0001819	synonymous_variant	8632							g.chr17:76506502G>A	AJ000522		17q25.3	2012-04-19	2006-09-04		ENSG00000187775	ENSG00000187775		"""Axonemal dyneins"""	2946	protein-coding gene	gene with protein product		610063	"""dynein, axonemal, heavy polypeptide 17"", ""dynein, axonemal, heavy chain like 1"", ""dynein, axonemal, heavy like 1"""	DNAHL1		9545504	Standard	NM_173628		Approved	DNEL2, FLJ40457	uc010dhp.2	Q9UFH2		ENST00000585328.1:c.4191C>T	17.37:g.76506502G>A							p.I25I					BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)		1	252	-								O00431|O15206|Q2M2Y1|Q6ZRQ2|Q8N7Q7	Silent	SNP	ENST00000585328.1	37	c.75C>T																																																																																					0.532	DNAH17-001	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000318962.2	NM_173628		7	199	0	0	0	0	7	199				
SIRT7	51547	broad.mit.edu	37	17	79872320	79872320	+	Silent	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr17:79872320G>A	ENST00000328666.6	-	7	728	c.666C>T	c.(664-666)ggC>ggT	p.G222G	PCYT2_ENST00000538936.2_5'Flank	NM_016538.2	NP_057622.1	Q9NRC8	SIR7_HUMAN	sirtuin 7	222	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription on exit from mitosis (GO:0007072)|rRNA transcription (GO:0009303)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleolus organizer region (GO:0005731)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GGCAGGTCCGGCCTGTCTGGT	0.632																																						uc002kcj.1		NA																	0					0						c.(664-666)GGC>GGT		sirtuin 7							38.0	37.0	38.0					17																	79872320		2202	4299	6501	SO:0001819	synonymous_variant	51547				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding	g.chr17:79872320G>A	AF233395	CCDS11792.1	17q25.3	2010-06-25	2010-06-25			ENSG00000187531			14935	protein-coding gene	gene with protein product		606212	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 7"", ""sirtuin (silent mating type information regulation 2 homolog) 7 (S. cerevisiae)"""			10873683, 16618798	Standard	NM_016538		Approved		uc002kcj.2	Q9NRC8		ENST00000328666.6:c.666C>T	17.37:g.79872320G>A						SIRT7_uc002kck.1_Silent_p.G73G|SIRT7_uc002kcl.1_Silent_p.G140G	p.G222G	NM_016538	NP_057622	Q9NRC8	SIRT7_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		7	699	-	all_neural(118;0.0878)|Ovarian(332;0.12)		222			Deacetylase sirtuin-type.		A8K2K0|B3KSU8|Q3MIK4|Q9NSZ6|Q9NUS6	Silent	SNP	ENST00000328666.6	37	c.666C>T	CCDS11792.1																																																																																				0.632	SIRT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439961.1	NM_016538		9	28	0	0	0	0	9	28				
UTS2R	2837	broad.mit.edu	37	17	80332288	80332288	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr17:80332288G>A	ENST00000313135.2	+	1	136	c.88G>A	c.(88-90)Gca>Aca	p.A30T		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	30					blood circulation (GO:0008015)|negative regulation of blood pressure (GO:0045776)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of renal sodium excretion (GO:0035814)|negative regulation of urine volume (GO:0035811)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood pressure (GO:0045777)|positive regulation of cell growth (GO:0030307)|positive regulation of circadian sleep/wake cycle, REM sleep (GO:0046005)|positive regulation of circadian sleep/wake cycle, wakefulness (GO:0010841)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of vasoconstriction (GO:0045907)|regulation of vasodilation (GO:0042312)|response to drug (GO:0042493)|signal transduction (GO:0007165)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)|urotensin II receptor activity (GO:0001604)			breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			CGGCCCCAACGCAACCCTCAA	0.711																																						uc010wvl.1		NA																	0				breast(1)	1						c.(88-90)GCA>ACA		urotensin 2 receptor							10.0	12.0	11.0					17																	80332288		2171	4276	6447	SO:0001583	missense	2837					integral to membrane|plasma membrane		g.chr17:80332288G>A	AF140631	CCDS11810.1	17q25.3	2013-04-30	2004-07-13	2004-07-13		ENSG00000181408			4468	protein-coding gene	gene with protein product		600896	"""G protein-coupled receptor 14"""	GPR14		8666380, 10499587	Standard	NM_018949		Approved		uc010wvl.2	Q9UKP6		ENST00000313135.2:c.88G>A	17.37:g.80332288G>A	ENSP00000323516:p.Ala30Thr						p.A30T	NM_018949	NP_061822	Q9UKP6	UR2R_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)		1	88	+	Breast(20;0.00106)|all_neural(118;0.0804)		30			Extracellular (Potential).		B2RMV8	Missense_Mutation	SNP	ENST00000313135.2	37	c.88G>A	CCDS11810.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.777875	0.31502	.	.	ENSG00000181408	ENST00000313135	T	0.37411	1.2	5.09	-1.62	0.08372	.	0.572402	0.15369	N	0.265979	T	0.17789	0.0427	N	0.24115	0.695	0.09310	N	1	B	0.16396	0.017	B	0.06405	0.002	T	0.19811	-1.0294	10	0.20046	T	0.44	.	5.7559	0.18172	0.5025:0.0:0.3653:0.1321	.	30	Q9UKP6	UR2R_HUMAN	T	30	ENSP00000323516:A30T	ENSP00000323516:A30T	A	+	1	0	UTS2R	77925577	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.393000	0.07305	-0.069000	0.12931	-0.136000	0.14681	GCA		0.711	UTS2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443506.1	NM_018949		3	14	0	0	0	0	3	14				
DPP9	91039	broad.mit.edu	37	19	4704050	4704050	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr19:4704050G>A	ENST00000598800.1	-	8	1035	c.530C>T	c.(529-531)cCg>cTg	p.P177L	DPP9_ENST00000594671.1_Missense_Mutation_p.P177L|DPP9_ENST00000597849.1_Missense_Mutation_p.P206L|DPP9_ENST00000262960.9_Missense_Mutation_p.P206L			Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	177						cytoplasm (GO:0005737)|membrane (GO:0016020)	aminopeptidase activity (GO:0004177)|identical protein binding (GO:0042802)|serine-type peptidase activity (GO:0008236)			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GATTTCCAGCGGTTTCATAGG	0.632																																						uc002mba.2		NA																	0				skin(1)	1						c.(616-618)CCG>CTG		dipeptidylpeptidase 9							47.0	52.0	50.0					19																	4704050		1944	4140	6084	SO:0001583	missense	91039				proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity	g.chr19:4704050G>A	AF452102	CCDS45928.1	19p13.3	2014-06-11	2006-01-12		ENSG00000142002	ENSG00000142002			18648	protein-coding gene	gene with protein product		608258	"""dipeptidylpeptidase 9"""				Standard	NM_139159		Approved		uc002mba.3	Q86TI2	OTTHUMG00000182040	ENST00000598800.1:c.530C>T	19.37:g.4704050G>A	ENSP00000469603:p.Pro177Leu					DPP9_uc002mbb.2_Missense_Mutation_p.P206L|DPP9_uc002mbc.2_Missense_Mutation_p.P206L	p.P206L	NM_139159	NP_631898	Q86TI2	DPP9_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)	7	875	-		Hepatocellular(1079;0.137)	177					O75273|O75868|Q1ZZB8|Q6AI37|Q6UAL0|Q6ZMT2|Q6ZNJ5|Q8N2J7|Q8N3F5|Q8WXD8|Q96NT8|Q9BVR3	Missense_Mutation	SNP	ENST00000598800.1	37	c.617C>T		.	.	.	.	.	.	.	.	.	.	G	14.99	2.699286	0.48307	.	.	ENSG00000142002	ENST00000357909;ENST00000381797;ENST00000262960	T	0.30182	1.54	4.64	3.6	0.41247	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.55049	0.1896	M	0.81239	2.535	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.988;1.0	T	0.58752	-0.7581	10	0.51188	T	0.08	-14.3138	12.0721	0.53622	0.084:0.0:0.916:0.0	.	177;206	Q86TI2;Q1ZZB8	DPP9_HUMAN;.	L	285;147;206	ENSP00000262960:P206L	ENSP00000262960:P206L	P	-	2	0	DPP9	4655050	1.000000	0.71417	0.884000	0.34674	0.021000	0.10359	9.534000	0.98061	1.189000	0.43028	-0.291000	0.09656	CCG		0.632	DPP9-026	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000459343.2			8	41	0	0	0	0	8	41				
HOMER3	9454	broad.mit.edu	37	19	19042181	19042181	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr19:19042181C>T	ENST00000539827.1	-	8	1499	c.847G>A	c.(847-849)Gag>Aag	p.E283K	HOMER3_ENST00000594794.1_Missense_Mutation_p.E74K|HOMER3_ENST00000392351.3_Missense_Mutation_p.E283K|HOMER3_ENST00000594439.1_Missense_Mutation_p.E247K|AC002985.3_ENST00000596918.1_3'UTR|HOMER3_ENST00000221222.11_Missense_Mutation_p.E283K|HOMER3_ENST00000542541.2_Missense_Mutation_p.E283K|HOMER3_ENST00000355887.6_Missense_Mutation_p.E283K|HOMER3_ENST00000433218.2_Missense_Mutation_p.E283K			Q9NSC5	HOME3_HUMAN	homer homolog 3 (Drosophila)	283					G-protein coupled glutamate receptor signaling pathway (GO:0007216)|protein targeting (GO:0006605)	basal part of cell (GO:0045178)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)		p.E283*(1)		endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10			Epithelial(12;0.0107)			TCCAGGGCCTCGCGGGGCCCC	0.627																																						uc002nku.2		NA																	1	Substitution - Nonsense(1)		lung(1)		0						c.(847-849)GAG>AAG		Homer, neuronal immediate early gene, 3 isoform							59.0	68.0	65.0					19																	19042181		2203	4300	6503	SO:0001583	missense	9454				metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding	g.chr19:19042181C>T	Y18894	CCDS12391.1, CCDS46022.1, CCDS46023.1	19p13.1	2008-02-05				ENSG00000051128			17514	protein-coding gene	gene with protein product		604800				10653696, 9808459	Standard	NM_004838		Approved	HOMER-3	uc002nkv.2	Q9NSC5		ENST00000539827.1:c.847G>A	19.37:g.19042181C>T	ENSP00000439937:p.Glu283Lys					HOMER3_uc002nko.1_RNA|HOMER3_uc002nkp.1_RNA|HOMER3_uc010eby.2_Missense_Mutation_p.E247K|HOMER3_uc010ebz.2_Missense_Mutation_p.E283K|HOMER3_uc002nkw.2_Missense_Mutation_p.E283K|HOMER3_uc002nkv.2_Missense_Mutation_p.E283K	p.E283K	NM_004838	NP_004829	Q9NSC5	HOME3_HUMAN	Epithelial(12;0.0107)		8	1500	-			283			Potential.		E9PCW9|O14580|O95350|Q9NSB9|Q9NSC0|Q9NSC1	Missense_Mutation	SNP	ENST00000539827.1	37	c.847G>A	CCDS12391.1	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264747	0.80358	.	.	ENSG00000051128	ENST00000392351;ENST00000433218;ENST00000542541;ENST00000221222;ENST00000539827;ENST00000355887	T;T;T;T;T;T	0.19394	2.15;2.15;2.15;2.26;2.15;2.15	5.19	4.16	0.48862	.	0.172270	0.48767	D	0.000172	T	0.38799	0.1054	M	0.70595	2.14	0.27405	N	0.954749	B;D;D	0.76494	0.011;0.999;0.999	B;P;P	0.59643	0.003;0.861;0.73	T	0.26121	-1.0112	10	0.72032	D	0.01	.	10.6868	0.45848	0.0:0.9119:0.0:0.0881	.	247;283;283	E9PCW9;Q9NSC5-2;Q9NSC5	.;.;HOME3_HUMAN	K	283;283;283;247;283;283	ENSP00000376162:E283K;ENSP00000396154:E283K;ENSP00000446026:E283K;ENSP00000221222:E247K;ENSP00000439937:E283K;ENSP00000348150:E283K	ENSP00000221222:E247K	E	-	1	0	HOMER3	18903181	0.960000	0.32886	0.046000	0.18839	0.027000	0.11550	4.216000	0.58540	1.201000	0.43203	0.555000	0.69702	GAG		0.627	HOMER3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464607.1			6	99	0	0	0	0	6	99				
ZNF527	84503	broad.mit.edu	37	19	37880095	37880095	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr19:37880095G>T	ENST00000436120.2	+	5	1251	c.1144G>T	c.(1144-1146)Ggt>Tgt	p.G382C	ZNF527_ENST00000587349.1_Intron	NM_032453.1	NP_115829.1	Q8NB42	ZN527_HUMAN	zinc finger protein 527	382					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATTCACACAGGTGAGAAACC	0.433																																						uc010efk.1		NA																	0				ovary(2)	2						c.(1144-1146)GGT>TGT		zinc finger protein 527							52.0	56.0	55.0					19																	37880095		2195	4298	6493	SO:0001583	missense	84503				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37880095G>T	AB058732, AK091585	CCDS42559.1	19q13.1	2013-01-08			ENSG00000189164	ENSG00000189164		"""Zinc fingers, C2H2-type"", ""-"""	29385	protein-coding gene	gene with protein product						11347906	Standard	NM_032453		Approved	KIAA1829	uc010efk.1	Q8NB42	OTTHUMG00000048173	ENST00000436120.2:c.1144G>T	19.37:g.37880095G>T	ENSP00000390179:p.Gly382Cys					ZNF527_uc002ogf.3_Missense_Mutation_p.G350C|ZNF527_uc010xtq.1_RNA	p.G382C	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	1255	+			382					B4DVL5	Missense_Mutation	SNP	ENST00000436120.2	37	c.1144G>T	CCDS42559.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.491931	0.64074	.	.	ENSG00000189164	ENST00000356178;ENST00000317566;ENST00000436120	.	.	.	3.67	2.63	0.31362	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.34067	N	0.004294	T	0.76608	0.4011	M	0.80332	2.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.988	T	0.77670	-0.2501	9	0.87932	D	0	.	9.7754	0.40616	0.1047:0.0:0.8953:0.0	.	382;350	Q8NB42;Q8NB42-2	ZN527_HUMAN;.	C	382;350;330	.	ENSP00000325231:G350C	G	+	1	0	ZNF527	42571935	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	5.935000	0.70145	0.765000	0.33221	0.655000	0.94253	GGT		0.433	ZNF527-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458434.1	NM_032453		8	38	1	0	1.13e-05	1.29e-05	8	38				
PSG1	5669	broad.mit.edu	37	19	43382262	43382262	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr19:43382262T>C	ENST00000436291.2	-	2	349	c.233A>G	c.(232-234)tAc>tGc	p.Y78C	PSG1_ENST00000403380.3_Missense_Mutation_p.Y78C|PSG1_ENST00000595356.1_Missense_Mutation_p.Y78C|PSG1_ENST00000595124.1_Missense_Mutation_p.Y78C|PSG1_ENST00000312439.6_Missense_Mutation_p.Y78C|PSG1_ENST00000244296.2_Missense_Mutation_p.Y78C|PSG1_ENST00000601073.1_5'UTR	NM_001184825.1|NM_001184826.1	NP_001171754.1|NP_001171755.1	P11464	PSG1_HUMAN	pregnancy specific beta-1-glycoprotein 1	78	Ig-like V-type.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				TGATGTAATGTAATGGTAGAG	0.433																																						uc002ovb.2		NA																	0				ovary(2)	2						c.(232-234)TAC>TGC		pregnancy specific beta-1-glycoprotein 1							231.0	226.0	227.0					19																	43382262		2202	4298	6500	SO:0001583	missense	5669				female pregnancy	extracellular region		g.chr19:43382262T>C		CCDS12612.1, CCDS54275.1, CCDS59392.1, CCDS74380.1	19q13.2	2013-01-29			ENSG00000231924	ENSG00000231924		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9514	protein-coding gene	gene with protein product		176390		PSBG1			Standard	NM_006905		Approved	PSGGA, CD66f, PBG1		P11464	OTTHUMG00000151123	ENST00000436291.2:c.233A>G	19.37:g.43382262T>C	ENSP00000413041:p.Tyr78Cys					PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Missense_Mutation_p.Y78C|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Missense_Mutation_p.Y78C|PSG1_uc010eio.1_Missense_Mutation_p.Y78C|PSG1_uc002oux.1_Missense_Mutation_p.Y7C|PSG1_uc002ouy.1_Missense_Mutation_p.Y78C|PSG1_uc002ouz.1_Missense_Mutation_p.Y78C|PSG1_uc002ova.1_Missense_Mutation_p.Y78C|PSG1_uc002ovc.2_Missense_Mutation_p.Y78C|PSG1_uc002ovd.1_Missense_Mutation_p.Y78C	p.Y78C	NM_006905	NP_008836	P11464	PSG1_HUMAN			2	371	-		Prostate(69;0.00682)	78			Ig-like V-type.		O75236|P11462|P11463|Q15231|Q15241|Q15243|Q16660|Q6ICR4|Q9P1W5|Q9UQ79	Missense_Mutation	SNP	ENST00000436291.2	37	c.233A>G	CCDS54275.1	.	.	.	.	.	.	.	.	.	.	N	8.094	0.775059	0.16051	.	.	ENSG00000231924	ENST00000270059;ENST00000436291;ENST00000403380;ENST00000312439;ENST00000244296	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	1.64	-3.28	0.05033	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.74566	0.3733	M	0.86651	2.83	0.09310	N	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;0.967;1.0;1.0;1.0;0.991;0.997;1.0;0.995	D;P;D;D;D;P;D;D;D	0.91635	0.997;0.818;0.98;0.987;0.979;0.818;0.932;0.999;0.917	T	0.64651	-0.6357	9	0.66056	D	0.02	.	2.4195	0.04445	0.3935:0.2941:0.0:0.3124	.	78;78;78;78;78;78;78;78;78	O75238;P11464-4;G5E9F7;P11464;Q8NBY8;P11464-3;Q9UPK8;O75237;P11464-2	.;.;.;PSG1_HUMAN;.;.;.;.;.	C	78	ENSP00000413041:Y78C;ENSP00000385386:Y78C;ENSP00000308970:Y78C;ENSP00000244296:Y78C	ENSP00000244296:Y78C	Y	-	2	0	PSG1	48074102	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-3.956000	0.00326	-1.744000	0.01338	0.155000	0.16302	TAC		0.433	PSG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000321426.1			63	268	0	0	0	0	63	268				
ZNF471	57573	broad.mit.edu	37	19	57037232	57037232	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr19:57037232A>G	ENST00000308031.5	+	5	1929	c.1796A>G	c.(1795-1797)tAt>tGt	p.Y599C	ZNF471_ENST00000591537.1_3'UTR|ZNF471_ENST00000593197.1_3'UTR	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	599					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		CAAAGGCCCTATCAGTGTTTT	0.413																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)	uc002qnh.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(1795-1797)TAT>TGT		zinc finger protein 471							79.0	77.0	78.0					19																	57037232		2203	4300	6503	SO:0001583	missense	57573				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57037232A>G	AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.1796A>G	19.37:g.57037232A>G	ENSP00000309161:p.Tyr599Cys						p.Y599C	NM_020813	NP_065864	Q9BX82	ZN471_HUMAN		GBM - Glioblastoma multiforme(193;0.0307)	5	1929	+		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)	599			C2H2-type 15.		B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	ENST00000308031.5	37	c.1796A>G	CCDS12945.1	.	.	.	.	.	.	.	.	.	.	A	12.55	1.972868	0.34848	.	.	ENSG00000196263	ENST00000308031	T	0.25414	1.8	3.9	2.89	0.33648	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.50377	0.1612	M	0.89478	3.035	0.22571	N	0.998977	D	0.89917	1.0	D	0.87578	0.998	T	0.41945	-0.9480	9	0.87932	D	0	.	3.1035	0.06334	0.5547:0.0:0.1108:0.3345	.	599	Q9BX82	ZN471_HUMAN	C	599	ENSP00000309161:Y599C	ENSP00000309161:Y599C	Y	+	2	0	ZNF471	61729044	0.000000	0.05858	0.559000	0.28332	0.979000	0.70002	-0.095000	0.11077	0.575000	0.29434	0.379000	0.24179	TAT		0.413	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458405.1	NM_020813		10	42	0	0	0	0	10	42				
PEG3	5178	broad.mit.edu	37	19	57327549	57327549	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr19:57327549G>A	ENST00000326441.9	-	10	2624	c.2261C>T	c.(2260-2262)tCt>tTt	p.S754F	PEG3_ENST00000598410.1_Missense_Mutation_p.S630F|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.S628F|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000391708.3_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.S754F	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	754					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ATAGGGGTTAGAGCTAATGGT	0.413																																						uc002qnu.2		NA																	0				ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1)	12						c.(2260-2262)TCT>TTT		paternally expressed 3 isoform 1							162.0	158.0	159.0					19																	57327549		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57327549G>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.2261C>T	19.37:g.57327549G>A	ENSP00000326581:p.Ser754Phe					ZIM2_uc010ygq.1_Intron|ZIM2_uc010ygr.1_Intron|ZIM2_uc002qnr.2_Intron|ZIM2_uc002qnq.2_Intron|ZIM2_uc010etp.2_Intron|ZIM2_uc010ygs.1_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.S725F|PEG3_uc002qnv.2_Missense_Mutation_p.S754F|PEG3_uc002qnw.2_Missense_Mutation_p.S630F|PEG3_uc002qnx.2_Missense_Mutation_p.S628F|PEG3_uc010etr.2_Missense_Mutation_p.S754F	p.S754F	NM_001146186	NP_001139658	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	7	2612	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	754					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.2261C>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	G	11.32	1.604418	0.28623	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.03272	3.99;3.99	4.23	-0.643	0.11482	.	0.863384	0.09857	N	0.746779	T	0.11965	0.0291	M	0.88570	2.965	.	.	.	P;D;P	0.56521	0.697;0.976;0.944	B;P;P	0.53450	0.216;0.726;0.587	T	0.14144	-1.0483	9	0.72032	D	0.01	-3.0366	4.0717	0.09885	0.0949:0.4453:0.3063:0.1536	.	630;754;689	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	F	754	ENSP00000326581:S754F;ENSP00000403051:S754F	ENSP00000326581:S754F	S	-	2	0	ZIM2	62019361	0.000000	0.05858	0.001000	0.08648	0.487000	0.33371	0.137000	0.15995	0.012000	0.14892	0.585000	0.79938	TCT		0.413	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			10	164	0	0	0	0	10	164				
GALNT14	79623	broad.mit.edu	37	2	31215732	31215732	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr2:31215732G>A	ENST00000349752.5	-	2	910	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	AC009305.1_ENST00000449780.1_RNA|GALNT14_ENST00000406653.1_Missense_Mutation_p.R71W|GALNT14_ENST00000324589.5_Intron|GALNT14_ENST00000356174.3_Missense_Mutation_p.R91W|GALNT14_ENST00000420311.2_Missense_Mutation_p.R56W	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	91					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GGGATGGCCCGATTGCTGGAG	0.562																																						uc002rnr.2		NA																	0				upper_aerodigestive_tract(2)|skin(1)	3						c.(271-273)CGG>TGG		N-acetylgalactosaminyltransferase 14							108.0	104.0	105.0					2																	31215732		2203	4300	6503	SO:0001583	missense	79623					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr2:31215732G>A	AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.271C>T	2.37:g.31215732G>A	ENSP00000288988:p.Arg91Trp					GALNT14_uc002rnq.2_Missense_Mutation_p.R71W|GALNT14_uc002rns.2_Intron|GALNT14_uc010ymr.1_Missense_Mutation_p.R56W|GALNT14_uc010ezo.1_Missense_Mutation_p.R91W|GALNT14_uc010ezp.1_Missense_Mutation_p.R62W	p.R91W	NM_024572	NP_078848	Q96FL9	GLT14_HUMAN			2	890	-	Acute lymphoblastic leukemia(172;0.155)		91			Lumenal (Potential).		B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	ENST00000349752.5	37	c.271C>T	CCDS1773.2	.	.	.	.	.	.	.	.	.	.	G	17.40	3.379389	0.61845	.	.	ENSG00000158089	ENST00000349752;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T	0.74842	-0.37;-0.37;-0.56;-0.37;-0.88	4.96	4.04	0.47022	.	.	.	.	.	D	0.86789	0.6017	M	0.86028	2.79	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	0.97110	1.0;0.999;0.999;0.983;0.999	D	0.88858	0.3324	9	0.87932	D	0	.	14.8047	0.69945	0.0:0.0:0.8557:0.1443	.	56;56;91;91;71	F5H263;B7Z5C5;Q96FL9-2;Q96FL9;B3KV89	.;.;.;GLT14_HUMAN;.	W	91;71;91;56;91	ENSP00000288988:R91W;ENSP00000385435:R71W;ENSP00000348497:R91W;ENSP00000415514:R56W;ENSP00000406399:R91W	ENSP00000288988:R91W	R	-	1	2	GALNT14	31069236	1.000000	0.71417	0.983000	0.44433	0.423000	0.31445	5.203000	0.65174	2.564000	0.86499	0.561000	0.74099	CGG		0.562	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157264.1	NM_024572		6	89	0	0	0	0	6	89				
EFEMP1	2202	broad.mit.edu	37	2	56097911	56097911	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr2:56097911T>G	ENST00000394555.2	-	10	1699	c.1264A>C	c.(1264-1266)Acc>Ccc	p.T422P	EFEMP1_ENST00000394554.1_Missense_Mutation_p.T422P|EFEMP1_ENST00000424836.2_Missense_Mutation_p.T284P|EFEMP1_ENST00000355426.3_Missense_Mutation_p.T422P	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	422	Mediates interaction with TIMP3.				epidermal growth factor receptor signaling pathway (GO:0007173)|extracellular matrix organization (GO:0030198)|negative regulation of chondrocyte differentiation (GO:0032331)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|epidermal growth factor-activated receptor activity (GO:0005006)			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GTATTGATGGTGTTGGCATAA	0.418																																					GBM(92;934 1319 7714 28760 40110)	uc002rzh.2		NA																	0				ovary(4)|pancreas(1)|skin(1)	6						c.(1264-1266)ACC>CCC		EGF-containing fibulin-like extracellular matrix							121.0	117.0	119.0					2																	56097911		2203	4300	6503	SO:0001583	missense	2202				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity	g.chr2:56097911T>G	U03877	CCDS1857.1	2p16	2013-01-08	2011-01-25		ENSG00000115380	ENSG00000115380		"""Fibulins"""	3218	protein-coding gene	gene with protein product	"""fibulin 3"""	601548	"""fibrillin-like"", ""EGF-containing fibulin-like extracellular matrix protein 1"""	DHRD, FBNL		8812496, 7799918	Standard	NM_001039348		Approved	S1-5, FBLN3, MTLV	uc002rzi.3	Q12805	OTTHUMG00000129343	ENST00000394555.2:c.1264A>C	2.37:g.56097911T>G	ENSP00000378058:p.Thr422Pro					EFEMP1_uc002rzi.2_Missense_Mutation_p.T422P|EFEMP1_uc002rzj.2_Missense_Mutation_p.T422P|EFEMP1_uc010ypc.1_Missense_Mutation_p.T284P	p.T422P	NM_004105	NP_004096	Q12805	FBLN3_HUMAN	LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)		10	1594	-			422			Mediates interaction with TIMP3.		A8K3I4|B4DW75|D6W5D2|Q541U7	Missense_Mutation	SNP	ENST00000394555.2	37	c.1264A>C	CCDS1857.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.114722	0.77210	.	.	ENSG00000115380	ENST00000394555;ENST00000394554;ENST00000405693;ENST00000424836;ENST00000355426	D;D;T;D	0.84298	-1.83;-1.83;-1.3;-1.83	5.65	5.65	0.86999	.	0.000000	0.64402	D	0.000002	D	0.88991	0.6588	L	0.43152	1.355	0.54753	D	0.999981	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.943	D	0.86994	0.2112	10	0.27785	T	0.31	.	16.1778	0.81874	0.0:0.0:0.0:1.0	.	284;422	B4DW75;Q12805	.;FBLN3_HUMAN	P	422;422;278;284;422	ENSP00000378058:T422P;ENSP00000378057:T422P;ENSP00000399145:T284P;ENSP00000347596:T422P	ENSP00000347596:T422P	T	-	1	0	EFEMP1	55951415	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.438000	0.52871	2.279000	0.76181	0.533000	0.62120	ACC		0.418	EFEMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251491.2			3	58	0	0	0	0	3	58				
ARHGAP25	9938	broad.mit.edu	37	2	69049988	69049988	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr2:69049988G>C	ENST00000295381.3	+	10	2133	c.1714G>C	c.(1714-1716)Gag>Cag	p.E572Q	ARHGAP25_ENST00000479844.1_Missense_Mutation_p.E266Q|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.E533Q|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.E573Q|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.E566Q|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.E565Q	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	572					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GCAAATGTATGAGGAACAGAT	0.448																																						uc002seu.2		NA																	0				ovary(2)|breast(2)	4						c.(1714-1716)GAG>CAG		Rho GTPase activating protein 25 isoform a							51.0	56.0	54.0					2																	69049988		2201	4298	6499	SO:0001583	missense	9938				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr2:69049988G>C	D29642	CCDS33214.1, CCDS46312.1, CCDS33214.2, CCDS54363.1, CCDS54364.1	2p13.3	2013-01-10			ENSG00000163219	ENSG00000163219		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	28951	protein-coding gene	gene with protein product		610587				7584044	Standard	NM_001007231		Approved	KIAA0053	uc010fdg.3	P42331	OTTHUMG00000152621	ENST00000295381.3:c.1714G>C	2.37:g.69049988G>C	ENSP00000295381:p.Glu572Gln					ARHGAP25_uc010fdg.2_Missense_Mutation_p.E573Q|ARHGAP25_uc010yql.1_Missense_Mutation_p.E533Q|ARHGAP25_uc002sew.2_Missense_Mutation_p.E565Q|ARHGAP25_uc002sex.2_Missense_Mutation_p.E566Q|ARHGAP25_uc002sey.2_Missense_Mutation_p.E299Q	p.E572Q	NM_001007231	NP_001007232	P42331	RHG25_HUMAN			10	2078	+			572			Potential.		A8K2Y1|B7Z498|E9PFQ7|G5E9G2|Q8IXQ2	Missense_Mutation	SNP	ENST00000295381.3	37	c.1714G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.91|17.91	3.503274|3.503274	0.64298|0.64298	.|.	.|.	ENSG00000163219|ENSG00000163219	ENST00000295381;ENST00000409202;ENST00000467265;ENST00000409030;ENST00000409220;ENST00000482106;ENST00000543533;ENST00000479844|ENST00000497259	T;T;T;T;T;T|.	0.55588|.	0.54;0.54;0.54;0.51;0.51;0.51|.	5.42|5.42	4.53|4.53	0.55603|0.55603	.|.	0.302124|.	0.36134|.	N|.	0.002766|.	T|T	0.55513|0.55513	0.1925|0.1925	L|L	0.35854|0.35854	1.095|1.095	0.80722|0.80722	D|D	1|1	B;P;P;P;P|.	0.41313|.	0.325;0.514;0.514;0.514;0.745|.	B;B;B;B;B|.	0.43445|.	0.055;0.156;0.238;0.238;0.42|.	T|T	0.51934|0.51934	-0.8642|-0.8642	10|5	0.52906|.	T|.	0.07|.	.|.	13.2606|13.2606	0.60102|0.60102	0.0:0.0:0.8412:0.1588|0.0:0.0:0.8412:0.1588	.|.	533;573;566;565;572|.	E9PFQ7;P42331-4;G5E9G2;P42331-3;P42331|.	.;.;.;.;RHG25_HUMAN|.	Q|I	572;573;533;565;566;566;557;266|431	ENSP00000295381:E572Q;ENSP00000386911:E573Q;ENSP00000420583:E533Q;ENSP00000386863:E565Q;ENSP00000386241:E566Q;ENSP00000417467:E266Q|.	ENSP00000295381:E572Q|.	E|M	+|+	1|3	0|0	ARHGAP25|ARHGAP25	68903492|68903492	1.000000|1.000000	0.71417|0.71417	0.966000|0.966000	0.40874|0.40874	0.995000|0.995000	0.86356|0.86356	7.577000|7.577000	0.82486|0.82486	1.392000|1.392000	0.46585|0.46585	0.557000|0.557000	0.71058|0.71058	GAG|ATG		0.448	ARHGAP25-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_014882		3	54	0	0	0	0	3	54				
PCGF1	84759	broad.mit.edu	37	2	74733102	74733102	+	Silent	SNP	C	C	T	rs553016148		TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr2:74733102C>T	ENST00000233630.6	-	5	1418	c.507G>A	c.(505-507)ttG>ttA	p.L169L	LBX2_ENST00000550249.1_5'Flank|LBX2-AS1_ENST00000603175.1_RNA|LBX2_ENST00000341396.2_5'Flank|PCGF1_ENST00000480844.2_5'UTR|LBX2_ENST00000460508.3_5'Flank|LBX2-AS1_ENST00000548978.2_RNA	NM_032673.2	NP_116062.2	Q9BSM1	PCGF1_HUMAN	polycomb group ring finger 1	169	Required for repressor activity.|Sufficient for interaction with BCOR and BCORL1.				histone H2A monoubiquitination (GO:0035518)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|PcG protein complex (GO:0031519)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(2)	12						GGCACAGGTTCAACTGCTCAT	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		19991	0.0		0.0	False		,,,				2504	0.001					uc002slz.2		NA																	0				ovary(1)	1						c.(505-507)TTG>TTA		polycomb group ring finger 1							192.0	197.0	196.0					2																	74733102		2203	4300	6503	SO:0001819	synonymous_variant	84759				histone H2A monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PcG protein complex	protein C-terminus binding|zinc ion binding	g.chr2:74733102C>T	AF087884	CCDS1946.2	2p13.1	2013-01-09			ENSG00000115289	ENSG00000115289		"""RING-type (C3HC4) zinc fingers"", ""Polycomb group ring fingers"""	17615	protein-coding gene	gene with protein product		610231				11287196	Standard	NM_032673		Approved	NSPC1, RNF68, MGC10882	uc002slz.3	Q9BSM1	OTTHUMG00000129954	ENST00000233630.6:c.507G>A	2.37:g.74733102C>T						LBX2_uc002slw.2_5'Flank|PCGF1_uc002sly.2_Silent_p.L86L	p.L169L	NM_032673	NP_116062	Q9BSM1	PCGF1_HUMAN			5	533	-			169					Q7Z506	Silent	SNP	ENST00000233630.6	37	c.507G>A	CCDS1946.2																																																																																				0.577	PCGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252216.1	NM_032673		13	197	0	0	0	0	13	197				
GGCX	2677	broad.mit.edu	37	2	85781368	85781368	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr2:85781368C>G	ENST00000233838.4	-	7	867	c.787G>C	c.(787-789)Gac>Cac	p.D263H	GGCX_ENST00000430215.3_Missense_Mutation_p.D206H|GGCX_ENST00000473665.1_5'UTR	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase	263					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	gamma-glutamyl carboxylase activity (GO:0008488)			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Phylloquinone(DB01022)	GCTGAGAGGTCAAGCAGCAGC	0.507																																						uc002sps.2		NA																	0				ovary(1)	1						c.(787-789)GAC>CAC		gamma-glutamyl carboxylase isoform 1	Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)						183.0	180.0	181.0					2																	85781368		2203	4300	6503	SO:0001583	missense	2677				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity	g.chr2:85781368C>G		CCDS1978.1, CCDS46353.1	2p12	2008-05-21			ENSG00000115486	ENSG00000115486			4247	protein-coding gene	gene with protein product	"""vitamin K-dependent gamma-carboxylase"""	137167				1749935	Standard	NM_000821		Approved	VKCFD1	uc002sps.3	P38435	OTTHUMG00000130173	ENST00000233838.4:c.787G>C	2.37:g.85781368C>G	ENSP00000233838:p.Asp263His					GGCX_uc010yss.1_Missense_Mutation_p.D102H|GGCX_uc010yst.1_Missense_Mutation_p.D206H	p.D263H	NM_000821	NP_000812	P38435	VKGC_HUMAN			7	893	-			263			Lumenal (Potential).		B4DMC5|E9PEE1|Q14415|Q6GU45	Missense_Mutation	SNP	ENST00000233838.4	37	c.787G>C	CCDS1978.1	.	.	.	.	.	.	.	.	.	.	C	28.2	4.896173	0.91962	.	.	ENSG00000115486	ENST00000233838;ENST00000430215	D;D	0.96967	-4.19;-4.19	5.91	5.91	0.95273	HTTM (1);	0.000000	0.85682	D	0.000000	D	0.98413	0.9472	M	0.88450	2.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.99116	1.0848	10	0.87932	D	0	-23.68	17.7884	0.88545	0.0:1.0:0.0:0.0	.	206;102;263	E9PEE1;B4DQW4;P38435	.;.;VKGC_HUMAN	H	263;206	ENSP00000233838:D263H;ENSP00000408045:D206H	ENSP00000233838:D263H	D	-	1	0	GGCX	85634879	1.000000	0.71417	0.992000	0.48379	0.995000	0.86356	7.387000	0.79785	2.804000	0.96469	0.462000	0.41574	GAC		0.507	GGCX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252490.3	NM_000821		6	183	0	0	0	0	6	183				
CKAP2L	150468	broad.mit.edu	37	2	113514726	113514726	+	Missense_Mutation	SNP	G	G	C	rs77207496	byFrequency	TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr2:113514726G>C	ENST00000302450.6	-	4	300	c.222C>G	c.(220-222)atC>atG	p.I74M	CKAP2L_ENST00000481732.1_5'UTR|CKAP2L_ENST00000541405.1_De_novo_Start_InFrame	NM_152515.3	NP_689728.3	Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	74						centrosome (GO:0005813)|cytoplasm (GO:0005737)				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						GTTTAATGCTGATGGACCTTT	0.413																																						uc002tie.2		NA																	0					0						c.(220-222)ATC>ATG		cytoskeleton associated protein 2-like							140.0	149.0	146.0					2																	113514726		2203	4300	6503	SO:0001583	missense	150468					centrosome		g.chr2:113514726G>C	AL832036	CCDS2100.1	2q13	2008-02-05			ENSG00000169607	ENSG00000169607			26877	protein-coding gene	gene with protein product						12477932	Standard	NM_152515		Approved	FLJ40629	uc002tie.2	Q8IYA6	OTTHUMG00000131313	ENST00000302450.6:c.222C>G	2.37:g.113514726G>C	ENSP00000305204:p.Ile74Met					CKAP2L_uc002tif.2_Translation_Start_Site|CKAP2L_uc010yxp.1_Translation_Start_Site|CKAP2L_uc010yxq.1_Translation_Start_Site	p.I74M	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN			4	301	-			74					A8K915|B4DZE3|B7ZAC6|F5H0M5|Q53QF8|Q53RS8|Q8N1J8	Missense_Mutation	SNP	ENST00000302450.6	37	c.222C>G	CCDS2100.1	.	.	.	.	.	.	.	.	.	.	G	5.904	0.350876	0.11182	.	.	ENSG00000169607	ENST00000302450	T	0.08102	3.13	5.16	-4.55	0.03441	.	0.866768	0.09939	N	0.736237	T	0.07863	0.0197	M	0.70595	2.14	0.18873	N	0.999986	B	0.18741	0.03	B	0.17979	0.02	T	0.46133	-0.9213	10	0.66056	D	0.02	-0.1067	0.15	0.00092	0.318:0.2377:0.2028:0.2414	.	74	Q8IYA6	CKP2L_HUMAN	M	74	ENSP00000305204:I74M	ENSP00000305204:I74M	I	-	3	3	CKAP2L	113231197	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-0.872000	0.04219	-0.670000	0.05282	-0.218000	0.12543	ATC		0.413	CKAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254082.2	NM_152515		7	183	0	0	0	0	7	183				
LRP1B	53353	broad.mit.edu	37	2	141250263	141250263	+	Splice_Site	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr2:141250263C>G	ENST00000389484.3	-	57	10006		c.e57-1			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGTTCTTCATCTAAACACCAA	0.338										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	uc002tvj.1		NA																	0				lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1)	50						c.e57-1		low density lipoprotein-related protein 1B							148.0	135.0	139.0					2																	141250263		2203	4300	6503	SO:0001630	splice_region_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141250263C>G	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.9035-1G>C	2.37:g.141250263C>G		TSP Lung(27;0.18)					p.D3012_splice	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	57	10007	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)						Q8WY29|Q8WY30|Q8WY31	Splice_Site	SNP	ENST00000389484.3	37	c.9035_splice	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221467	0.79464	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	5.11	5.11	0.69529	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.5004	0.90879	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRP1B	140966733	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.525000	0.81892	2.373000	0.80994	0.460000	0.39030	.		0.338	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Intron	6	67	0	0	0	0	6	67				
NFE2L2	4780	broad.mit.edu	37	2	178098810	178098810	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr2:178098810C>T	ENST00000397062.3	-	2	789	c.235G>A	c.(235-237)Gag>Aag	p.E79K	NFE2L2_ENST00000446151.2_Missense_Mutation_p.E63K|NFE2L2_ENST00000423513.1_Missense_Mutation_p.E63K|NFE2L2_ENST00000397063.4_Missense_Mutation_p.E63K|NFE2L2_ENST00000464747.1_Missense_Mutation_p.E63K	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	79					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E79K(10)|p.E79Q(10)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TCACCTGTCTCTTCATCTAGT	0.443			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3		NA		Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		20	Substitution - Missense(20)		lung(13)|oesophagus(4)|upper_aerodigestive_tract(1)|urinary_tract(1)|cervix(1)	central_nervous_system(1)	1						c.(235-237)GAG>AAG		nuclear factor erythroid 2-like 2 isoform 1							147.0	146.0	146.0					2																	178098810		1899	4107	6006	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098810C>T		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.235G>A	2.37:g.178098810C>T	ENSP00000380252:p.Glu79Lys	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.E63K|NFE2L2_uc010zfa.1_Missense_Mutation_p.E63K|NFE2L2_uc002uli.3_Missense_Mutation_p.E63K|NFE2L2_uc010fra.2_Missense_Mutation_p.E63K|NFE2L2_uc010frb.2_Missense_Mutation_p.E63K	p.E79K	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	790	-			79					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.235G>A	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936470	0.73442	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64271	0.2583	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;0.997;1.0;1.0	D;D;D;D	0.85130	0.996;0.985;0.997;0.996	T	0.68700	-0.5339	10	0.72032	D	0.01	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	63;63;63;79	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	K	63;79;63;63;63;63;63	ENSP00000380253:E63K;ENSP00000380252:E79K;ENSP00000411575:E63K;ENSP00000391590:E63K;ENSP00000400073:E63K;ENSP00000412191:E63K;ENSP00000410015:E63K	ENSP00000380252:E79K	E	-	1	0	NFE2L2	177807056	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.298000	0.78815	2.737000	0.93849	0.563000	0.77884	GAG		0.443	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		5	58	0	0	0	0	5	58				
ARMC9	80210	broad.mit.edu	37	2	232123816	232123816	+	Splice_Site	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr2:232123816G>A	ENST00000349938.4	+	11	1220		c.e11+1		ARMC9_ENST00000483477.1_Splice_Site	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9							extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TCTGCGCTGGGTAGGTACCTT	0.438																																						uc002vrq.3		NA																	0				ovary(1)	1						c.e11+1		armadillo repeat containing 9							91.0	86.0	87.0					2																	232123816		2203	4300	6503	SO:0001630	splice_region_variant	80210						binding	g.chr2:232123816G>A	BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.1026+1G>A	2.37:g.232123816G>A						ARMC9_uc002vrp.3_Splice_Site_p.W342_splice	p.W342_splice	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)	11	1138	+		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)						Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Splice_Site	SNP	ENST00000349938.4	37	c.1026_splice	CCDS2484.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.866016	0.71949	.	.	ENSG00000135931	ENST00000349938;ENST00000359743;ENST00000436339;ENST00000424740	.	.	.	4.7	4.7	0.59300	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7969	0.85604	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ARMC9	231832060	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.256000	0.89848	2.344000	0.79699	0.561000	0.74099	.		0.438	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256966.3	NM_025139	Intron	11	27	0	0	0	0	11	27				
DIDO1	11083	broad.mit.edu	37	20	61542619	61542619	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr20:61542619C>T	ENST00000266070.4	-	3	671	c.346G>A	c.(346-348)Gaa>Aaa	p.E116K	DIDO1_ENST00000395340.1_Missense_Mutation_p.E116K|DIDO1_ENST00000266071.5_Missense_Mutation_p.E116K|DIDO1_ENST00000370366.1_Missense_Mutation_p.E116K|DIDO1_ENST00000370368.1_Missense_Mutation_p.E116K|DIDO1_ENST00000395335.2_Missense_Mutation_p.E116K|DIDO1_ENST00000354665.4_Missense_Mutation_p.E116K|DIDO1_ENST00000370371.4_Missense_Mutation_p.E116K|DIDO1_ENST00000395343.1_Missense_Mutation_p.E116K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	116					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)					GAAGCGCTTTCCACGCTGCCC	0.637																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)	uc002ydr.1		NA																	0				ovary(3)|skin(3)	6						c.(346-348)GAA>AAA		death inducer-obliterator 1 isoform c							40.0	32.0	35.0					20																	61542619		2203	4299	6502	SO:0001583	missense	11083				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr20:61542619C>T	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.346G>A	20.37:g.61542619C>T	ENSP00000266070:p.Glu116Lys					DIDO1_uc002yds.1_Missense_Mutation_p.E116K|DIDO1_uc002ydt.1_Missense_Mutation_p.E116K|DIDO1_uc002ydu.1_Missense_Mutation_p.E116K|DIDO1_uc002ydv.1_Missense_Mutation_p.E116K|DIDO1_uc002ydw.1_Missense_Mutation_p.E116K|DIDO1_uc002ydx.1_Missense_Mutation_p.E116K|DIDO1_uc011aao.1_Missense_Mutation_p.E116K	p.E116K	NM_033081	NP_149072	Q9BTC0	DIDO1_HUMAN			3	610	-	Breast(26;5.68e-08)		116					A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	ENST00000266070.4	37	c.346G>A	CCDS33506.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.067207	0.76301	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335;ENST00000370371;ENST00000370368;ENST00000354665;ENST00000370366;ENST00000266071	T;T;T;T;T;T;T;T;T	0.23950	3.52;3.52;2.4;2.4;1.88;1.88;1.88;1.89;1.89	5.83	5.83	0.93111	.	0.000000	0.42294	U	0.000733	T	0.53965	0.1829	M	0.72118	2.19	0.58432	D	0.999994	D;D;D;D	0.89917	1.0;0.995;0.999;1.0	D;D;D;D	0.87578	0.998;0.934;0.942;0.94	T	0.51857	-0.8652	10	0.62326	D	0.03	-44.4405	20.1184	0.97949	0.0:1.0:0.0:0.0	.	116;116;116;116	Q9BTC0-2;Q9BTC0-3;Q9BTC0-1;Q9BTC0	.;.;.;DIDO1_HUMAN	K	116	ENSP00000266070:E116K;ENSP00000378752:E116K;ENSP00000378749:E116K;ENSP00000378744:E116K;ENSP00000359397:E116K;ENSP00000359394:E116K;ENSP00000346692:E116K;ENSP00000359391:E116K;ENSP00000266071:E116K	ENSP00000266070:E116K	E	-	1	0	DIDO1	61013064	1.000000	0.71417	0.249000	0.24280	0.022000	0.10575	7.321000	0.79088	2.769000	0.95229	0.655000	0.94253	GAA		0.637	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080091.2	NM_080796		6	41	0	0	0	0	6	41				
ARFGAP1	55738	broad.mit.edu	37	20	61914181	61914181	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr20:61914181T>G	ENST00000370283.4	+	9	835	c.695T>G	c.(694-696)tTt>tGt	p.F232C	ARFGAP1_ENST00000519604.1_Missense_Mutation_p.F179C|ARFGAP1_ENST00000370275.4_Missense_Mutation_p.F232C|ARFGAP1_ENST00000547204.1_Missense_Mutation_p.F158C|ARFGAP1_ENST00000519273.2_Missense_Mutation_p.F119C|ARFGAP1_ENST00000353546.3_Missense_Mutation_p.F232C	NM_018209.2	NP_060679.1	Q8N6T3	ARFG1_HUMAN	ADP-ribosylation factor GTPase activating protein 1	232					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|COPI coating of Golgi vesicle (GO:0048205)|endoplasmic reticulum unfolded protein response (GO:0030968)|membrane organization (GO:0061024)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	cytosol (GO:0005829)|Golgi-associated vesicle membrane (GO:0030660)|synapse (GO:0045202)	ARF GTPase activator activity (GO:0008060)|GTPase activator activity (GO:0005096)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					GCTACAAAGTTTGGATCCCAA	0.507																																						uc002yem.2		NA																	0				pancreas(1)	1						c.(694-696)TTT>TGT		ADP-ribosylation factor GTPase activating							199.0	160.0	173.0					20																	61914181		2203	4300	6503	SO:0001583	missense	55738				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding	g.chr20:61914181T>G	AK001629	CCDS13515.1, CCDS13516.1, CCDS63326.1, CCDS63327.1, CCDS63328.1	20q13.33	2009-11-30	2002-08-20	2002-08-23	ENSG00000101199	ENSG00000101199		"""ADP-ribosylation factor GTPase activating proteins"""	15852	protein-coding gene	gene with protein product		608377	"""ADP-ribosylation factor 1 GTPase activating protein"""	ARF1GAP		11210549	Standard	NM_018209		Approved	FLJ10767, bA261N11.3	uc002yel.3	Q8N6T3	OTTHUMG00000032965	ENST00000370283.4:c.695T>G	20.37:g.61914181T>G	ENSP00000359306:p.Phe232Cys					ARFGAP1_uc011aas.1_Missense_Mutation_p.F179C|ARFGAP1_uc011aat.1_Missense_Mutation_p.F119C|ARFGAP1_uc002yel.2_Missense_Mutation_p.F232C|ARFGAP1_uc002yen.2_Missense_Mutation_p.F232C|ARFGAP1_uc002yeo.1_5'Flank	p.F232C	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN			9	807	+	all_cancers(38;1.59e-09)		232					B7Z3U0|B7Z8H8|B7ZBI3|E1P5I9|E7EV62|Q6PK71|Q96KC4|Q96T02|Q9NSU3|Q9NVF6|Q9UIL0	Missense_Mutation	SNP	ENST00000370283.4	37	c.695T>G	CCDS13515.1	.	.	.	.	.	.	.	.	.	.	T	18.08	3.544006	0.65198	.	.	ENSG00000101199	ENST00000370283;ENST00000547204;ENST00000549047;ENST00000519604;ENST00000519273;ENST00000370275;ENST00000518601;ENST00000353546;ENST00000522403	T;T;T;T;T;T;T;T;T	0.49432	1.39;0.84;0.81;0.88;0.8;1.39;0.78;1.47;1.47	4.86	4.86	0.63082	.	0.070785	0.64402	D	0.000006	T	0.65417	0.2689	M	0.64997	1.995	0.51482	D	0.999921	D;D;D;D;D	0.89917	1.0;0.978;0.989;0.966;0.998	D;P;D;P;D	0.77004	0.989;0.805;0.922;0.662;0.927	T	0.68644	-0.5354	10	0.62326	D	0.03	-20.1318	14.7418	0.69461	0.0:0.0:0.0:1.0	.	119;179;232;232;232	B7Z8H8;E7EV62;B7ZBI2;Q8N6T3;Q8N6T3-2	.;.;.;ARFG1_HUMAN;.	C	232;158;158;179;119;232;187;232;232	ENSP00000359306:F232C;ENSP00000449800:F158C;ENSP00000447037:F158C;ENSP00000430500:F179C;ENSP00000443716:F119C;ENSP00000359298:F232C;ENSP00000429674:F187C;ENSP00000314615:F232C;ENSP00000430929:F232C	ENSP00000314615:F232C	F	+	2	0	ARFGAP1	61384626	1.000000	0.71417	0.966000	0.40874	0.795000	0.44927	3.874000	0.56101	1.948000	0.56530	0.533000	0.62120	TTT		0.507	ARFGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080134.3	NM_018209		15	42	0	0	0	0	15	42				
TMPRSS15	5651	broad.mit.edu	37	21	19704465	19704465	+	Silent	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr21:19704465C>G	ENST00000284885.3	-	14	1623	c.1590G>C	c.(1588-1590)ctG>ctC	p.L530L		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	530	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTGGCTCCCACAGCTCAAAAG	0.403																																						uc002ykw.2		NA																	0				ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1)	8						c.(1588-1590)CTG>CTC		enterokinase precursor							132.0	131.0	132.0					21																	19704465		2203	4300	6503	SO:0001819	synonymous_variant	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19704465C>G		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1590G>C	21.37:g.19704465C>G							p.L530L	NM_002772	NP_002763	P98073	ENTK_HUMAN			14	1621	-			530			Extracellular (Potential).|CUB 2.		Q2NKL7	Silent	SNP	ENST00000284885.3	37	c.1590G>C	CCDS13571.1																																																																																				0.403	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		4	56	0	0	0	0	4	56				
CECR5	27440	broad.mit.edu	37	22	17629399	17629399	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr22:17629399C>T	ENST00000336737.4	-	3	407	c.382G>A	c.(382-384)Gag>Aag	p.E128K	CECR5_ENST00000399852.3_Intron|CECR5_ENST00000480451.1_5'UTR|CECR5_ENST00000155674.5_Missense_Mutation_p.E98K	NM_033070.2	NP_149061.1	Q9BXW7	CECR5_HUMAN	cat eye syndrome chromosome region, candidate 5	128						mitochondrion (GO:0005739)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(10)|pancreas(1)|prostate(1)	21		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)				TCATGGTACTCGGAGAAGAGC	0.557																																						uc002zmf.2		NA																	0					0						c.(382-384)GAG>AAG		cat eye syndrome chromosome region, candidate 5							199.0	207.0	205.0					22																	17629399		2203	4300	6503	SO:0001583	missense	27440						hydrolase activity	g.chr22:17629399C>T	AF273270	CCDS13741.1, CCDS33595.1	22q11.2	2008-06-12			ENSG00000069998	ENSG00000069998			1843	protein-coding gene	gene with protein product						11381032	Standard	NM_017829		Approved		uc002zmf.3	Q9BXW7	OTTHUMG00000150071	ENST00000336737.4:c.382G>A	22.37:g.17629399C>T	ENSP00000337358:p.Glu128Lys					CECR5_uc002zme.2_5'UTR|CECR5_uc002zmg.2_Intron|CECR5_uc002zmh.2_Missense_Mutation_p.E98K	p.E128K	NM_033070	NP_149061	Q9BXW7	CECR5_HUMAN			3	410	-		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)	128					B2RCK5|Q9BXW8|Q9NWA8|Q9NX41	Missense_Mutation	SNP	ENST00000336737.4	37	c.382G>A	CCDS33595.1	.	.	.	.	.	.	.	.	.	.	C	3.378	-0.127075	0.06795	.	.	ENSG00000069998	ENST00000155674;ENST00000336737	T;T	0.27256	1.68;1.68	4.56	1.15	0.20763	HAD-like domain (1);	0.181621	0.49305	D	0.000145	T	0.11793	0.0287	N	0.12961	0.28	0.80722	D	1	B;B	0.11235	0.002;0.004	B;B	0.09377	0.002;0.004	T	0.15122	-1.0448	10	0.11794	T	0.64	-17.5343	9.2682	0.37654	0.0:0.2602:0.4799:0.2599	.	98;128	Q9BXW7-2;Q9BXW7	.;CECR5_HUMAN	K	98;128	ENSP00000155674:E98K;ENSP00000337358:E128K	ENSP00000155674:E98K	E	-	1	0	CECR5	16009399	0.874000	0.30092	0.017000	0.16124	0.209000	0.24338	1.172000	0.31908	0.561000	0.29186	-0.839000	0.03059	GAG		0.557	CECR5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316100.1	NM_017829		14	260	0	0	0	0	14	260				
SREBF2	6721	broad.mit.edu	37	22	42294718	42294718	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr22:42294718G>T	ENST00000361204.4	+	15	2837	c.2671G>T	c.(2671-2673)Gac>Tac	p.D891Y	SREBF2_ENST00000491541.1_3'UTR|MIR33A_ENST00000385197.1_RNA	NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	891					cellular lipid metabolic process (GO:0044255)|cellular response to laminar fluid shear stress (GO:0071499)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cholesterol homeostasis (GO:2000188)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|response to low-density lipoprotein particle (GO:0055098)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SREBP-SCAP-Insig complex (GO:0032937)	E-box binding (GO:0070888)|protein C-terminus binding (GO:0008022)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GCTCCAGGGAGACGATGCAGC	0.567																																						uc003bbi.2		NA																	0				breast(2)|ovary(1)|central_nervous_system(1)	4						c.(2671-2673)GAC>TAC		sterol regulatory element-binding transcription							124.0	97.0	106.0					22																	42294718		2203	4300	6503	SO:0001583	missense	6721				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding	g.chr22:42294718G>T	U02031	CCDS14023.1	22q13.2	2013-05-21			ENSG00000198911	ENSG00000198911		"""Basic helix-loop-helix proteins"""	11290	protein-coding gene	gene with protein product		600481				7903453	Standard	NM_004599		Approved	SREBP2, bHLHd2	uc003bbi.3	Q12772	OTTHUMG00000151261	ENST00000361204.4:c.2671G>T	22.37:g.42294718G>T	ENSP00000354476:p.Asp891Tyr					WBP2NL_uc011ape.1_Intron|LOC339674_uc003bba.1_Intron|SREBF2_uc003bbj.2_RNA|uc011api.1_5'Flank|MIR33A_hsa-mir-33a|MI0000091_5'Flank	p.D891Y	NM_004599	NP_004590	Q12772	SRBP2_HUMAN			15	2840	+			891			Cytoplasmic (Potential).		Q05BD5|Q6GTH7|Q86V36|Q9UH04	Missense_Mutation	SNP	ENST00000361204.4	37	c.2671G>T	CCDS14023.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.6|29.6	5.023545|5.023545	0.93462|0.93462	.|.	.|.	ENSG00000198911|ENSG00000198911	ENST00000361204;ENST00000457567|ENST00000435061	T|.	0.26660|.	1.72|.	5.42|5.42	5.42|5.42	0.78866|0.78866	.|.	0.046277|.	0.85682|.	D|.	0.000000|.	T|T	0.76190|0.76190	0.3953|0.3953	M|M	0.72353|0.72353	2.195|2.195	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.70227|.	0.968|.	T|T	0.75042|0.75042	-0.3457|-0.3457	10|5	0.87932|.	D|.	0|.	-22.9759|-22.9759	19.2126|19.2126	0.93763|0.93763	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	891|.	Q12772|.	SRBP2_HUMAN|.	Y|D	891|13	ENSP00000354476:D891Y|.	ENSP00000354476:D891Y|.	D|E	+|+	1|3	0|2	SREBF2|SREBF2	40624664|40624664	1.000000|1.000000	0.71417|0.71417	0.984000|0.984000	0.44739|0.44739	0.995000|0.995000	0.86356|0.86356	8.979000|8.979000	0.93455|0.93455	2.559000|2.559000	0.86315|0.86315	0.655000|0.655000	0.94253|0.94253	GAC|GAG		0.567	SREBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321956.1	NM_004599		13	23	1	0	9.31e-06	1.07e-05	13	23				
MPPED1	758	broad.mit.edu	37	22	43870809	43870809	+	Silent	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr22:43870809C>T	ENST00000417669.2	+	4	1044	c.600C>T	c.(598-600)acC>acT	p.T200T	MPPED1_ENST00000443721.1_Silent_p.T200T|MPPED1_ENST00000538182.1_Silent_p.T233T|MPPED1_ENST00000542779.1_Silent_p.T200T|MPPED1_ENST00000414469.2_Silent_p.T94T|MPPED1_ENST00000439548.1_Silent_p.T42T			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1	200							hydrolase activity (GO:0016787)			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CGGAGGTCACCGTGCGGGGCT	0.592																																						uc011apv.1		NA																	0					0						c.(598-600)ACC>ACT		metallophosphoesterase domain containing 1							76.0	81.0	79.0					22																	43870809		2021	4184	6205	SO:0001819	synonymous_variant	758						hydrolase activity	g.chr22:43870809C>T	U84894	CCDS46723.1	22q13.2	2013-09-20	2005-10-10	2005-10-10	ENSG00000186732	ENSG00000186732			1306	protein-coding gene	gene with protein product		602112	"""chromosome 22 open reading frame 1"""	C22orf1		9266672, 10591208	Standard	NM_001044370		Approved	239AB, FAM1A	uc011apv.2	O15442	OTTHUMG00000150566	ENST00000417669.2:c.600C>T	22.37:g.43870809C>T						MPPED1_uc011apw.1_Silent_p.T94T|MPPED1_uc011apx.1_Silent_p.T42T|MPPED1_uc011apy.1_Silent_p.T200T|MPPED1_uc011apz.1_Silent_p.T233T	p.T200T	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN			4	823	+		all_neural(38;0.0244)|Ovarian(80;0.0694)	200					A8K159|B7Z2S9|Q8N361	Silent	SNP	ENST00000417669.2	37	c.600C>T	CCDS46723.1																																																																																				0.592	MPPED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318938.2	NM_001044370		24	54	0	0	0	0	24	54				
TGFBR2	7048	broad.mit.edu	37	3	30715720	30715720	+	Missense_Mutation	SNP	C	C	T	rs104893811		TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr3:30715720C>T	ENST00000295754.5	+	5	1760	c.1378C>T	c.(1378-1380)Cgc>Tgc	p.R460C	TGFBR2_ENST00000359013.4_Missense_Mutation_p.R485C	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	460	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		R -> C (in LDS2). {ECO:0000269|PubMed:16027248}.|R -> H (in LDS2). {ECO:0000269|PubMed:16027248}.		activation of protein kinase activity (GO:0032147)|aging (GO:0007568)|apoptotic process (GO:0006915)|blood vessel development (GO:0001568)|brain development (GO:0007420)|bronchus morphogenesis (GO:0060434)|cartilage development (GO:0051216)|common-partner SMAD protein phosphorylation (GO:0007182)|digestive tract development (GO:0048565)|embryo implantation (GO:0007566)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic hemopoiesis (GO:0035162)|gastrulation (GO:0007369)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lens development in camera-type eye (GO:0002088)|lens fiber cell apoptotic process (GO:1990086)|lung lobe morphogenesis (GO:0060463)|mammary gland morphogenesis (GO:0060443)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cardiac muscle cell proliferation (GO:0060044)|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)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell tolerance induction (GO:0002663)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of T cell tolerance induction (GO:0002666)|positive regulation of tolerance induction to self antigen (GO:0002651)|protein phosphorylation (GO:0006468)|receptor-mediated endocytosis (GO:0006898)|regulation of cell proliferation (GO:0042127)|response to cholesterol (GO:0070723)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to glucose (GO:0009749)|response to mechanical stimulus (GO:0009612)|response to nutrient (GO:0007584)|smoothened signaling pathway (GO:0007224)|trachea formation (GO:0060440)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)|wound healing (GO:0042060)	caveola (GO:0005901)|cytosol (GO:0005829)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|transforming growth factor beta receptor homodimeric complex (GO:0070022)	ATP binding (GO:0005524)|glycosaminoglycan binding (GO:0005539)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|SMAD binding (GO:0046332)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta receptor activity, type II (GO:0005026)|transforming growth factor beta-activated receptor activity (GO:0005024)|transmembrane receptor protein serine/threonine kinase activity (GO:0004675)|type I transforming growth factor beta receptor binding (GO:0034713)|type III transforming growth factor beta receptor binding (GO:0034714)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						AATGACATCTCGCTGTAATGC	0.458																																						uc003ceo.2		NA																	0				pancreas(9)|large_intestine(6)|stomach(4)|lung(3)|ovary(3)|central_nervous_system(1)	26	GRCh37	CM052922	TGFBR2	M	rs104893811	c.(1378-1380)CGC>TGC		transforming growth factor, beta receptor II							148.0	126.0	133.0					3																	30715720		2203	4300	6503	SO:0001583	missense	7048				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	g.chr3:30715720C>T		CCDS2648.1, CCDS33727.1	3p22	2014-09-17	2002-08-29		ENSG00000163513	ENSG00000163513			11773	protein-coding gene	gene with protein product		190182	"""transforming growth factor, beta receptor II (70-80kD)"""	MFS2		1319842, 15235604	Standard	NM_001024847		Approved		uc003cen.3	P37173	OTTHUMG00000130569	ENST00000295754.5:c.1378C>T	3.37:g.30715720C>T	ENSP00000295754:p.Arg460Cys					TGFBR2_uc003cen.2_Missense_Mutation_p.R485C	p.R460C	NM_003242	NP_003233	P37173	TGFR2_HUMAN			5	1760	+			460		R -> C (in AAT3).|R -> H (in AAT3).	Protein kinase.|Cytoplasmic (Potential).		B4DTV5|Q15580|Q6DKT6|Q99474	Missense_Mutation	SNP	ENST00000295754.5	37	c.1378C>T	CCDS2648.1	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674175	0.67928	.	.	ENSG00000163513	ENST00000295754;ENST00000359013;ENST00000439925	D;D	0.93811	-3.29;-3.29	5.75	5.75	0.90469	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.97192	0.9082	M	0.84433	2.695	0.80722	A	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97380	0.9982	9	0.87932	D	0	.	19.9662	0.97271	0.0:1.0:0.0:0.0	.	460;485	P37173;D2JYI1	TGFR2_HUMAN;.	C	460;485;290	ENSP00000295754:R460C;ENSP00000351905:R485C	ENSP00000295754:R460C	R	+	1	0	TGFBR2	30690724	0.999000	0.42202	0.997000	0.53966	0.555000	0.35460	4.035000	0.57297	2.701000	0.92244	0.650000	0.86243	CGC		0.458	TGFBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252994.2			7	63	0	0	0	0	7	63				
ITIH4	3700	broad.mit.edu	37	3	52857598	52857598	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr3:52857598G>T	ENST00000266041.4	-	11	1609	c.1513C>A	c.(1513-1515)Ctc>Atc	p.L505I	ITIH4-AS1_ENST00000478366.1_RNA|ITIH4_ENST00000434759.3_Missense_Mutation_p.L417I|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000406595.1_Missense_Mutation_p.L505I|ITIH4_ENST00000467462.1_5'UTR|ITIH4_ENST00000346281.5_Missense_Mutation_p.L505I|ITIH4_ENST00000485816.1_Missense_Mutation_p.L505I	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	505					acute-phase response (GO:0006953)|hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)|response to cytokine (GO:0034097)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GTGGCTGTGAGCACATCAGGC	0.612																																						uc003dfz.2		NA																	0				ovary(2)|central_nervous_system(1)	3						c.(1513-1515)CTC>ATC		inter-alpha (globulin) inhibitor H4							37.0	39.0	38.0					3																	52857598		2203	4299	6502	SO:0001583	missense	3700				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:52857598G>T	D38535	CCDS2865.1, CCDS54596.1	3p21.1	2011-10-26	2011-10-26		ENSG00000055955	ENSG00000055955			6169	protein-coding gene	gene with protein product	"""plasma Kallikrein-sensitive glycoprotein"""	600564	"""inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)"""	ITIHL1		9480842, 7805892	Standard	NM_002218		Approved	IHRP, H4P	uc003dfz.3	Q14624	OTTHUMG00000159023	ENST00000266041.4:c.1513C>A	3.37:g.52857598G>T	ENSP00000266041:p.Leu505Ile					ITIH4_uc011bel.1_Missense_Mutation_p.L235I|ITIH4_uc003dfy.2_Missense_Mutation_p.L369I|ITIH4_uc011bem.1_Missense_Mutation_p.L505I|ITIH4_uc011ben.1_Missense_Mutation_p.L505I	p.L505I	NM_002218	NP_002209	Q14624	ITIH4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)	11	1549	-			505					B7Z545|E9PGN5|Q15135|Q9P190|Q9UQ54	Missense_Mutation	SNP	ENST00000266041.4	37	c.1513C>A	CCDS2865.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.81|15.81	2.943613|2.943613	0.53079|0.53079	.|.	.|.	ENSG00000055955|ENSG00000055955	ENST00000441637|ENST00000266041;ENST00000346281;ENST00000485816;ENST00000406595;ENST00000538421;ENST00000434759	.|T;T;T;T;T	.|0.16196	.|2.36;2.36;2.36;2.36;2.36	4.36|4.36	2.54|2.54	0.30619|0.30619	.|.	.|0.126829	.|0.34223	.|N	.|0.004150	T|T	0.35422|0.35422	0.0931|0.0931	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	.|D;D;P;D	.|0.60160	.|0.987;0.968;0.939;0.968	.|P;P;P;D	.|0.63488	.|0.804;0.706;0.706;0.915	T|T	0.07443|0.07443	-1.0772|-1.0772	5|10	.|0.49607	.|T	.|0.09	-15.9783|-15.9783	8.7014|8.7014	0.34327|0.34327	0.1927:0.0:0.8073:0.0|0.1927:0.0:0.8073:0.0	.|.	.|505;505;505;505	.|E9PGN5;B7ZKJ8;Q14624;Q14624-2	.|.;.;ITIH4_HUMAN;.	D|I	362|505;505;505;505;493;417	.|ENSP00000266041:L505I;ENSP00000340520:L505I;ENSP00000417824:L505I;ENSP00000384425:L505I;ENSP00000440036:L417I	.|ENSP00000266041:L505I	A|L	-|-	2|1	0|0	ITIH4|ITIH4	52832638|52832638	0.445000|0.445000	0.25657|0.25657	0.717000|0.717000	0.30585|0.30585	0.487000|0.487000	0.33371|0.33371	1.357000|1.357000	0.34090|0.34090	0.823000|0.823000	0.34589|0.34589	0.561000|0.561000	0.74099|0.74099	GCT|CTC		0.612	ITIH4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317715.1	NM_002218		8	22	1	0	0.000157383	0.00017395	8	22				
CACNA1D	776	broad.mit.edu	37	3	53844020	53844020	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr3:53844020G>A	ENST00000350061.5	+	47	6398	c.5887G>A	c.(5887-5889)Ggc>Agc	p.G1963S	CACNA1D_ENST00000544977.1_Missense_Mutation_p.R347Q|CACNA1D_ENST00000422281.2_Missense_Mutation_p.G1939S|CACNA1D_ENST00000288139.4_Missense_Mutation_p.G1983S	NM_001128840.1	NP_001122312.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit	1963					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|energy reserve metabolic process (GO:0006112)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during SA node cell action potential (GO:0086052)|positive regulation of calcium ion transport (GO:0051928)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of potassium ion transmembrane transport (GO:1901379)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|ankyrin binding (GO:0030506)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)|voltage-gated calcium channel activity involved in cardiac muscle cell action potential (GO:0086007)|voltage-gated calcium channel activity involved SA node cell action potential (GO:0086059)			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCAGTTGCCGGCCTAGATTC	0.612																																						uc003dgv.3		NA																	0				ovary(6)|upper_aerodigestive_tract(2)|liver(1)|central_nervous_system(1)|skin(1)	11						c.(5887-5889)GGC>AGC		calcium channel, voltage-dependent, L type,	Verapamil(DB00661)						65.0	69.0	68.0					3																	53844020		2203	4300	6503	SO:0001583	missense	776				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr3:53844020G>A	AB209171	CCDS2872.1, CCDS46848.1, CCDS46849.1	3p14.3	2012-03-07			ENSG00000157388	ENSG00000157388		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1391	protein-coding gene	gene with protein product		114206		CCHL1A2, CACNL1A2		1664412	Standard	NM_000720		Approved	Cav1.3, CACH3, CACN4	uc003dgu.5	Q01668	OTTHUMG00000158278	ENST00000350061.5:c.5887G>A	3.37:g.53844020G>A	ENSP00000288133:p.Gly1963Ser					CACNA1D_uc003dgu.3_Missense_Mutation_p.G1983S|CACNA1D_uc003dgy.3_Missense_Mutation_p.G1939S|CACNA1D_uc003dgw.3_Missense_Mutation_p.G1630S|CACNA1D_uc011bes.1_RNA	p.G1963S	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	47	6050	+			1963			Cytoplasmic (Potential).		B0FYA3|Q13916|Q13931|Q71UT1|Q9UDC3	Missense_Mutation	SNP	ENST00000350061.5	37	c.5887G>A	CCDS46848.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	4.007387|4.007387	0.75046|0.75046	.|.	.|.	ENSG00000157388|ENSG00000157388	ENST00000350061;ENST00000288139;ENST00000422281;ENST00000481478|ENST00000544977	T;T;T;T|.	0.75260|.	-0.92;-0.92;-0.92;-0.92|.	5.21|5.21	5.21|5.21	0.72293|0.72293	.|.	0.073928|.	0.52532|.	D|.	0.000066|.	T|T	0.72479|0.72479	0.3465|0.3465	M|M	0.63428|0.63428	1.95|1.95	0.40092|0.40092	D|D	0.976264|0.976264	P;P;P;D|.	0.57257|.	0.908;0.94;0.896;0.979|.	B;B;B;P|.	0.47891|.	0.256;0.33;0.166;0.56|.	T|T	0.71192|0.71192	-0.4665|-0.4665	10|6	0.72032|0.36615	D|T	0.01|0.2	.|.	17.3269|17.3269	0.87251|0.87251	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1939;1656;1963;1983|.	B0FYA3;Q59GD8;Q01668;Q01668-2|.	.;.;CAC1D_HUMAN;.|.	S|Q	1963;1983;1939;1656|347	ENSP00000288133:G1963S;ENSP00000288139:G1983S;ENSP00000409174:G1939S;ENSP00000418014:G1656S|.	ENSP00000288139:G1983S|ENSP00000440956:R347Q	G|R	+|+	1|2	0|0	CACNA1D|CACNA1D	53819060|53819060	1.000000|1.000000	0.71417|0.71417	0.981000|0.981000	0.43875|0.43875	0.382000|0.382000	0.30200|0.30200	9.790000|9.790000	0.99075|0.99075	2.608000|2.608000	0.88229|0.88229	0.460000|0.460000	0.39030|0.39030	GGC|CGG		0.612	CACNA1D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350557.1	NM_000720		16	73	0	0	0	0	16	73				
C3orf38	285237	broad.mit.edu	37	3	88205752	88205752	+	Silent	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr3:88205752G>A	ENST00000318887.3	+	3	1267	c.957G>A	c.(955-957)caG>caA	p.Q319Q	C3orf38_ENST00000486971.1_3'UTR	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	319					apoptotic process (GO:0006915)					breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		ATGTAAAGCAGGCTTCGGATA	0.408																																						uc003dqw.2		NA																	0					0						c.(955-957)CAG>CAA		hypothetical protein LOC285237							72.0	77.0	75.0					3																	88205752		2203	4300	6503	SO:0001819	synonymous_variant	285237				apoptosis			g.chr3:88205752G>A	AL832398	CCDS2921.1, CCDS2921.2	3p11.1	2011-01-25			ENSG00000179021	ENSG00000179021			28384	protein-coding gene	gene with protein product						12477932	Standard	NM_173824		Approved	MGC26717	uc003dqw.3	Q5JPI3	OTTHUMG00000155752	ENST00000318887.3:c.957G>A	3.37:g.88205752G>A							p.Q319Q	NM_173824	NP_776185	Q5JPI3	CC038_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)	4	1268	+		Lung NSC(201;0.17)	319					B2R8X6|Q8TC85	Silent	SNP	ENST00000318887.3	37	c.957G>A	CCDS2921.2																																																																																				0.408	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341513.1	NM_173824		20	70	0	0	0	0	20	70				
PIK3CA	5290	broad.mit.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		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.E542K(545)|p.E542Q(10)		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)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	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	E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(CAL51_BREAST)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(VMCUB1_URINARY_TRACT)|E542K(BT483_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)	57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			colorectal|gastric|gliobastoma|breast		555	Substitution - Missense(555)	p.E542K(481)|p.E542V(8)|p.E542Q(6)|p.E542G(1)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(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.(1624-1626)GAA>AAA		phosphoinositide-3-kinase, catalytic, alpha							56.0	56.0	56.0					3																	178936082		1809	4069	5878	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.chr3:178936082G>A		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.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E542K	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)		10	1781	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		542		E -> V (in cancer).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).	PI3K helical.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1624G>A	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			8	50	0	0	0	0	8	50				
ZBTB49	166793	broad.mit.edu	37	4	4314793	4314793	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr4:4314793G>A	ENST00000337872.4	+	5	1449	c.1328G>A	c.(1327-1329)cGa>cAa	p.R443Q	ZBTB49_ENST00000538529.1_Intron|ZBTB49_ENST00000355834.3_Intron	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	443					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.R443Q(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						ACTCACTTACGACGGCATTCT	0.408																																						uc003ghu.2		NA																	1	Substitution - Missense(1)		prostate(1)	ovary(1)|skin(1)	2						c.(1327-1329)CGA>CAA		zinc finger protein 509							162.0	143.0	149.0					4																	4314793		2203	4300	6503	SO:0001583	missense	166793				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:4314793G>A	AK095878	CCDS3375.1	4p16.2	2013-01-08	2010-01-26	2010-01-26	ENSG00000168826	ENSG00000168826		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19883	protein-coding gene	gene with protein product			"""zinc finger protein 509"""	ZNF509		12477932	Standard	NM_145291		Approved	FLJ38559	uc003ghu.3	Q6ZSB9	OTTHUMG00000090325	ENST00000337872.4:c.1328G>A	4.37:g.4314793G>A	ENSP00000338807:p.Arg443Gln					ZBTB49_uc003ghv.2_5'UTR|ZBTB49_uc010icy.2_Intron|ZBTB49_uc010icz.2_Intron	p.R443Q	NM_145291	NP_660334	Q6ZSB9	ZBT49_HUMAN			5	1503	+			443			C2H2-type 2.		Q59FJ4|Q5EBN0|Q8TB80	Missense_Mutation	SNP	ENST00000337872.4	37	c.1328G>A	CCDS3375.1	.	.	.	.	.	.	.	.	.	.	G	33	5.275747	0.95459	.	.	ENSG00000168826	ENST00000337872	T	0.24723	1.84	4.94	4.94	0.65067	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000043	T	0.46229	0.1382	L	0.48362	1.52	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.45411	-0.9263	10	0.72032	D	0.01	.	18.1529	0.89679	0.0:0.0:1.0:0.0	.	443	Q6ZSB9	ZBT49_HUMAN	Q	443	ENSP00000338807:R443Q	ENSP00000338807:R443Q	R	+	2	0	ZBTB49	4365694	1.000000	0.71417	0.995000	0.50966	0.982000	0.71751	8.483000	0.90442	2.296000	0.77279	0.650000	0.86243	CGA		0.408	ZBTB49-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206688.3	NM_145291		7	50	0	0	0	0	7	50				
EVC	2121	broad.mit.edu	37	4	5800433	5800433	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr4:5800433A>G	ENST00000264956.6	+	15	2402	c.2218A>G	c.(2218-2220)Atg>Gtg	p.M740V	EVC_ENST00000382674.2_Missense_Mutation_p.M740V|EVC_ENST00000515113.1_3'UTR	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	740					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GCAGCAGCACATGGAGTGCGC	0.652																																						uc003gil.1		NA																	0				ovary(1)|skin(1)	2						c.(2218-2220)ATG>GTG		Ellis van Creveld syndrome protein							16.0	16.0	16.0					4																	5800433		2192	4287	6479	SO:0001583	missense	2121				muscle organ development	integral to membrane		g.chr4:5800433A>G	AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.2218A>G	4.37:g.5800433A>G	ENSP00000264956:p.Met740Val					EVC_uc003gim.1_RNA|CRMP1_uc003gin.1_Intron	p.M740V	NM_153717	NP_714928	P57679	EVC_HUMAN			15	2402	+		Myeloproliferative disorder(84;0.117)	740						Missense_Mutation	SNP	ENST00000264956.6	37	c.2218A>G	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	a	1.799	-0.477461	0.04414	.	.	ENSG00000072840	ENST00000264956;ENST00000382674	T;T	0.53640	0.61;0.61	4.93	-0.623	0.11556	.	0.631539	0.17067	N	0.188320	T	0.31199	0.0789	L	0.46157	1.445	0.50313	D	0.999867	B	0.21606	0.058	B	0.22601	0.04	T	0.09465	-1.0673	10	0.12766	T	0.61	.	4.4086	0.11421	0.6217:0.0:0.2421:0.1363	.	740	P57679	EVC_HUMAN	V	740	ENSP00000264956:M740V;ENSP00000372120:M740V	ENSP00000264956:M740V	M	+	1	0	EVC	5851334	0.001000	0.12720	0.063000	0.19743	0.092000	0.18411	-0.383000	0.07398	-0.339000	0.08401	-0.360000	0.07572	ATG		0.652	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			6	15	0	0	0	0	6	15				
AFAP1	60312	broad.mit.edu	37	4	7873772	7873772	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr4:7873772G>C	ENST00000360265.4	-	1	268	c.34C>G	c.(34-36)Ctt>Gtt	p.L12V	AFAP1_ENST00000358461.2_Missense_Mutation_p.L12V|AFAP1_ENST00000420658.1_Missense_Mutation_p.L12V|AFAP1_ENST00000382543.3_Missense_Mutation_p.L12V			Q8N556	AFAP1_HUMAN	actin filament associated protein 1	12						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						AGGAGTTCAAGAAAGAGACGA	0.383																																						uc003gkg.1		NA																	0					0						c.(34-36)CTT>GTT		actin filament associated protein 1							190.0	173.0	179.0					4																	7873772		2203	4300	6503	SO:0001583	missense	60312					actin cytoskeleton|cytoplasm|focal adhesion	actin binding	g.chr4:7873772G>C	AB209676	CCDS3397.1, CCDS47010.1	4p16	2014-02-12	2007-02-07		ENSG00000196526	ENSG00000196526		"""Pleckstrin homology (PH) domain containing"""	24017	protein-coding gene	gene with protein product		608252				14755689, 11641786, 11607843	Standard	NM_198595		Approved	AFAP-110, AFAP	uc011bwk.1	Q8N556	OTTHUMG00000125515	ENST00000360265.4:c.34C>G	4.37:g.7873772G>C	ENSP00000353402:p.Leu12Val					AFAP1_uc011bwk.1_Missense_Mutation_p.L12V	p.L12V	NM_198595	NP_940997	Q8N556	AFAP1_HUMAN			2	307	-			12					A8K442|B4DMU2|E9PDT7|Q59EY5|Q9HBY1	Missense_Mutation	SNP	ENST00000360265.4	37	c.34C>G	CCDS3397.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.390349	0.62066	.	.	ENSG00000196526	ENST00000360265;ENST00000420658;ENST00000358461;ENST00000382543	T;T;T;T	0.60672	0.17;0.17;0.17;0.17	5.38	5.38	0.77491	.	0.000000	0.64402	D	0.000001	T	0.75532	0.3862	M	0.67397	2.05	0.53688	D	0.999973	D;D	0.69078	0.997;0.997	D;D	0.72625	0.978;0.978	T	0.77835	-0.2440	10	0.87932	D	0	-17.4038	19.1645	0.93548	0.0:0.0:1.0:0.0	.	12;12	E9PDT7;Q8N556	.;AFAP1_HUMAN	V	12	ENSP00000353402:L12V;ENSP00000410689:L12V;ENSP00000351245:L12V;ENSP00000371983:L12V	ENSP00000351245:L12V	L	-	1	0	AFAP1	7924672	1.000000	0.71417	0.986000	0.45419	0.996000	0.88848	5.327000	0.65881	2.532000	0.85374	0.650000	0.86243	CTT		0.383	AFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246842.2	NM_021638		3	61	0	0	0	0	3	61				
SOD3	6649	broad.mit.edu	37	4	24801554	24801554	+	Silent	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr4:24801554G>C	ENST00000382120.3	+	2	616	c.411G>C	c.(409-411)gtG>gtC	p.V137V		NM_003102.2	NP_003093.2	P08294	SODE_HUMAN	superoxide dismutase 3, extracellular	137					removal of superoxide radicals (GO:0019430)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	copper ion binding (GO:0005507)|heparin binding (GO:0008201)|superoxide dismutase activity (GO:0004784)|zinc ion binding (GO:0008270)			prostate(1)|urinary_tract(1)	2		Breast(46;0.0503)				CGCTGGCCGTGCCGCACCCGC	0.751																																						uc003gqz.2		NA																	0					0						c.(409-411)GTG>GTC		superoxide dismutase 3, extracellular precursor							7.0	8.0	8.0					4																	24801554		1821	3792	5613	SO:0001819	synonymous_variant	6649				removal of superoxide radicals	extracellular space|nucleus|soluble fraction	copper ion binding|heparin binding|protein binding|superoxide dismutase activity|zinc ion binding	g.chr4:24801554G>C		CCDS3430.1	4p15.2	2012-09-20			ENSG00000109610	ENSG00000109610	1.15.1.1		11181	protein-coding gene	gene with protein product		185490					Standard	NM_003102		Approved	EC-SOD	uc003gqz.3	P08294	OTTHUMG00000128565	ENST00000382120.3:c.411G>C	4.37:g.24801554G>C						SOD3_uc003gqy.1_RNA	p.V137V	NM_003102	NP_003093	P08294	SODE_HUMAN			2	616	+		Breast(46;0.0503)	137					Q5U781|Q6FHA2	Silent	SNP	ENST00000382120.3	37	c.411G>C	CCDS3430.1																																																																																				0.751	SOD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250416.1			4	26	0	0	0	0	4	26				
ADAD1	132612	broad.mit.edu	37	4	123336584	123336584	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr4:123336584C>T	ENST00000296513.2	+	11	1485	c.1300C>T	c.(1300-1302)Cgt>Tgt	p.R434C	ADAD1_ENST00000388725.2_Missense_Mutation_p.R416C|ADAD1_ENST00000388724.2_Missense_Mutation_p.R423C	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	434	A to I editase. {ECO:0000255|PROSITE- ProRule:PRU00240}.				multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TATAAAGCAACGTGTTGATGA	0.368																																						uc003ieo.2		NA																	0					0						c.(1300-1302)CGT>TGT		adenosine deaminase domain containing 1							138.0	136.0	137.0					4																	123336584		2203	4300	6503	SO:0001583	missense	132612				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding	g.chr4:123336584C>T	AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.1300C>T	4.37:g.123336584C>T	ENSP00000296513:p.Arg434Cys					ADAD1_uc003iep.2_Missense_Mutation_p.R423C|ADAD1_uc003ieq.2_Missense_Mutation_p.R416C	p.R434C	NM_139243	NP_640336	Q96M93	ADAD1_HUMAN			11	1532	+			434			A to I editase.		A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	ENST00000296513.2	37	c.1300C>T	CCDS34058.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.370394	0.82573	.	.	ENSG00000164113	ENST00000296513;ENST00000388724;ENST00000388725	D;D;D	0.97430	-4.38;-4.38;-4.38	5.25	5.25	0.73442	Adenosine deaminase/editase (3);	0.000000	0.85682	D	0.000000	D	0.98701	0.9564	M	0.88105	2.93	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99777	1.1026	10	0.87932	D	0	-16.4138	18.8289	0.92130	0.0:1.0:0.0:0.0	.	423;434	Q96M93-2;Q96M93	.;ADAD1_HUMAN	C	434;423;416	ENSP00000296513:R434C;ENSP00000373376:R423C;ENSP00000373377:R416C	ENSP00000296513:R434C	R	+	1	0	ADAD1	123556034	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.932000	0.63476	2.451000	0.82905	0.655000	0.94253	CGT		0.368	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316452.1	NM_139243		15	75	0	0	0	0	15	75				
FAT1	2195	broad.mit.edu	37	4	187629100	187629100	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr4:187629100G>A	ENST00000441802.2	-	2	2091	c.1882C>T	c.(1882-1884)Cga>Tga	p.R628*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	628	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R628*(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATTAGCGATCGCTTTAATGAC	0.403										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	2	Substitution - Nonsense(2)		endometrium(2)	ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(1882-1884)CGA>TGA		FAT tumor suppressor 1 precursor							81.0	75.0	77.0					4																	187629100		1871	4093	5964	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187629100G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1882C>T	4.37:g.187629100G>A	ENSP00000406229:p.Arg628*	HNSCC(5;0.00058)				FAT1_uc010iso.1_Nonsense_Mutation_p.R628*	p.R628*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			2	2070	-			628			Extracellular (Potential).|Cadherin 5.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.1882C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	36	5.636264	0.96693	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	.	.	.	5.4	5.4	0.78164	.	0.253637	0.41823	D	0.000802	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	19.3673	0.94469	0.0:0.0:1.0:0.0	.	.	.	.	X	628	.	ENSP00000260147:R628X	R	-	1	2	FAT1	187866094	1.000000	0.71417	0.987000	0.45799	0.007000	0.05969	6.536000	0.73842	2.805000	0.96524	0.655000	0.94253	CGA		0.403	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		6	63	0	0	0	0	6	63				
FAT1	2195	broad.mit.edu	37	4	187630411	187630411	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr4:187630411G>A	ENST00000441802.2	-	2	780	c.571C>T	c.(571-573)Cga>Tga	p.R191*		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	191	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ATATCTGTTCGATCTTTAAAA	0.433										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(571-573)CGA>TGA		FAT tumor suppressor 1 precursor							119.0	120.0	120.0					4																	187630411		2107	4244	6351	SO:0001587	stop_gained	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187630411G>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.571C>T	4.37:g.187630411G>A	ENSP00000406229:p.Arg191*	HNSCC(5;0.00058)				FAT1_uc010iso.1_Nonsense_Mutation_p.R191*	p.R191*	NM_005245	NP_005236	Q14517	FAT1_HUMAN			2	759	-			191			Extracellular (Potential).|Cadherin 2.			Nonsense_Mutation	SNP	ENST00000441802.2	37	c.571C>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	38	6.755049	0.97813	.	.	ENSG00000083857	ENST00000441802;ENST00000260147;ENST00000509647	.	.	.	5.2	3.25	0.37280	.	0.123299	0.56097	D	0.000030	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	.	11.4405	0.50094	0.0:0.0:0.4341:0.5659	.	.	.	.	X	191	.	ENSP00000260147:R191X	R	-	1	2	FAT1	187867405	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.836000	0.55813	1.361000	0.45981	0.591000	0.81541	CGA		0.433	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		13	115	0	0	0	0	13	115				
MIER3	166968	broad.mit.edu	37	5	56234739	56234739	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr5:56234739C>G	ENST00000381199.3	-	4	296	c.286G>C	c.(286-288)Gat>Cat	p.D96H	MIER3_ENST00000409421.1_Missense_Mutation_p.D33H|MIER3_ENST00000381213.3_Missense_Mutation_p.D96H|AC016644.1_ENST00000438553.1_RNA|MIER3_ENST00000381226.3_Missense_Mutation_p.D101H			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	96					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		GGTAGTTCATCTGCCAGTTCA	0.393																																						uc003jrd.1		NA																	0					0						c.(286-288)GAT>CAT		mesoderm induction early response 1, family							177.0	167.0	170.0					5																	56234739		2203	4300	6503	SO:0001583	missense	166968				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr5:56234739C>G	BX537798	CCDS3973.2, CCDS75248.1	5q11.2	2009-03-19			ENSG00000155545	ENSG00000155545			26678	protein-coding gene	gene with protein product						12477932	Standard	XM_005248448		Approved	FLJ35954, DKFZp686L09111, DKFZp781I1119	uc003jra.1	Q7Z3K6	OTTHUMG00000059589	ENST00000381199.3:c.286G>C	5.37:g.56234739C>G	ENSP00000370596:p.Asp96His					MIER3_uc003jqz.1_Missense_Mutation_p.D33H|MIER3_uc003jra.1_Missense_Mutation_p.D96H|MIER3_uc003jrb.1_5'UTR|MIER3_uc003jrc.1_Missense_Mutation_p.D101H	p.D96H	NM_152622	NP_689835	Q7Z3K6	MIER3_HUMAN		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)	4	311	-		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)	96					B4DRI9|B8ZZQ0|Q5CZI0|Q68CS3|Q6MZS7|Q86YG8|Q8NA13	Missense_Mutation	SNP	ENST00000381199.3	37	c.286G>C		.	.	.	.	.	.	.	.	.	.	C	24.8	4.570097	0.86542	.	.	ENSG00000155545	ENST00000381226;ENST00000381213;ENST00000381199;ENST00000409421;ENST00000336942	T;T;T;T;T	0.27890	1.64;1.64;1.64;1.64;1.64	5.63	4.76	0.60689	.	0.089960	0.85682	D	0.000000	T	0.53642	0.1809	M	0.68952	2.095	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.992	T	0.57429	-0.7813	10	0.66056	D	0.02	-6.863	14.4141	0.67137	0.0:0.9289:0.0:0.0711	.	96;101;96	Q7Z3K6;Q7Z3K6-2;Q7Z3K6-3	MIER3_HUMAN;.;.	H	101;96;96;33;69	ENSP00000370624:D101H;ENSP00000370611:D96H;ENSP00000370596:D96H;ENSP00000386584:D33H;ENSP00000337027:D69H	ENSP00000337027:D69H	D	-	1	0	MIER3	56270496	1.000000	0.71417	0.959000	0.39883	0.996000	0.88848	4.838000	0.62803	1.366000	0.46076	0.563000	0.77884	GAT		0.393	MIER3-004	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000132523.2	NM_152622		6	63	0	0	0	0	6	63				
SERINC5	256987	broad.mit.edu	37	5	79473175	79473175	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr5:79473175C>T	ENST00000507668.2	-	4	569	c.419G>A	c.(418-420)gGa>gAa	p.G140E	SERINC5_ENST00000512972.2_Missense_Mutation_p.G140E|SERINC5_ENST00000509193.1_Missense_Mutation_p.G140E|SERINC5_ENST00000513907.1_5'UTR|SERINC5_ENST00000512721.1_Missense_Mutation_p.G140E	NM_001174071.1|NM_178276.5	NP_001167542.1|NP_840060.1	Q86VE9	SERC5_HUMAN	serine incorporator 5	140					myelination (GO:0042552)|phosphatidylserine metabolic process (GO:0006658)|phospholipid biosynthetic process (GO:0008654)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	L-serine transmembrane transporter activity (GO:0015194)			endometrium(3)|kidney(1)|lung(3)|ovary(1)	8		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)		GAAGAAAGCTCCTGAGCACAT	0.393																																						uc003kgj.2		NA																	0				ovary(1)	1						c.(418-420)GGA>GAA		developmentally regulated protein TPO1							116.0	106.0	109.0					5																	79473175		1844	4086	5930	SO:0001583	missense	256987				phosphatidylserine metabolic process|phospholipid biosynthetic process|positive regulation of transferase activity	endoplasmic reticulum membrane|integral to membrane		g.chr5:79473175C>T	AF498273	CCDS54874.1	5q14.1	2014-01-28	2005-10-14	2005-10-14		ENSG00000164300			18825	protein-coding gene	gene with protein product		614551	"""chromosome 5 open reading frame 12"""	C5orf12		12688535	Standard	NM_178276		Approved	TPO1	uc011ctj.2	Q86VE9		ENST00000507668.2:c.419G>A	5.37:g.79473175C>T	ENSP00000426237:p.Gly140Glu					SERINC5_uc003kgk.2_Missense_Mutation_p.G140E|SERINC5_uc003kgl.2_RNA|SERINC5_uc003kgm.2_Missense_Mutation_p.G140E|SERINC5_uc011ctj.1_Missense_Mutation_p.G140E	p.G140E	NM_178276	NP_840060	Q86VE9	SERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;2.93e-46)|Epithelial(54;5.59e-40)|all cancers(79;1.89e-34)	4	548	-		Lung NSC(167;0.00328)|all_lung(232;0.00356)|Ovarian(174;0.0261)	140			Helical; (Potential).		B4DMH7|Q495A4|Q495A6	Missense_Mutation	SNP	ENST00000507668.2	37	c.419G>A	CCDS54873.1	.	.	.	.	.	.	.	.	.	.	C	31	5.083694	0.94050	.	.	ENSG00000164300	ENST00000507668;ENST00000329637;ENST00000509193;ENST00000512972;ENST00000512721	T;T;T;T	0.15256	2.44;2.44;2.44;2.44	5.36	5.36	0.76844	.	0.050588	0.85682	D	0.000000	T	0.54255	0.1847	M	0.92169	3.28	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	1.0;0.986;1.0;1.0	T	0.64415	-0.6413	10	0.59425	D	0.04	.	19.4651	0.94934	0.0:1.0:0.0:0.0	.	140;140;140;140	B4DMH7;Q86VE9-2;D6RHG7;Q86VE9	.;.;.;SERC5_HUMAN	E	140;139;140;140;140	ENSP00000426237:G140E;ENSP00000426134:G140E;ENSP00000421665:G140E;ENSP00000420863:G140E	ENSP00000327542:G139E	G	-	2	0	SERINC5	79508931	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.970000	0.63742	2.671000	0.90904	0.655000	0.94253	GGA		0.393	SERINC5-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_178276		6	58	0	0	0	0	6	58				
NREP	9315	broad.mit.edu	37	5	111066653	111066653	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr5:111066653G>A	ENST00000379671.3	-	5	436	c.172C>T	c.(172-174)Cgc>Tgc	p.R58C	NREP_ENST00000509025.1_Intron|STARD4-AS1_ENST00000500779.2_RNA|NREP_ENST00000515855.1_3'UTR|NREP_ENST00000419114.2_Missense_Mutation_p.R58C|NREP_ENST00000450761.2_Missense_Mutation_p.R58C|NREP_ENST00000509427.1_Missense_Mutation_p.R58C|NREP_ENST00000395634.3_Missense_Mutation_p.R102C|NREP_ENST00000447165.2_Missense_Mutation_p.R58C|NREP_ENST00000446294.2_Missense_Mutation_p.R58C|NREP_ENST00000507742.1_5'UTR|NREP_ENST00000453526.2_Missense_Mutation_p.R58C|NREP_ENST00000508870.1_Missense_Mutation_p.R58C|NREP_ENST00000455559.2_Missense_Mutation_p.R58C|STARD4-AS1_ENST00000513221.1_RNA|NREP_ENST00000509979.1_3'UTR|NREP_ENST00000257435.7_Missense_Mutation_p.R58C	NM_001142478.1	NP_001135950.1	Q16612	NREP_HUMAN	neuronal regeneration related protein	58					axon regeneration (GO:0031103)|regulation of neuron differentiation (GO:0045664)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											CTTGGGGAGCGGAGTTCACTG	0.458																																						uc003kpl.2		NA																	0				skin(1)	1						c.(172-174)CGC>TGC		neuronal protein 3.1 isoform a							167.0	148.0	155.0					5																	111066653		2202	4300	6502	SO:0001583	missense	9315					cytoplasm		g.chr5:111066653G>A	AF119859	CCDS4105.1, CCDS47255.1	5q22.1	2012-12-07	2012-12-07	2012-01-23	ENSG00000134986	ENSG00000134986			16834	protein-coding gene	gene with protein product	"""neuronal protein 3.1"""	607332	"""chromosome 5 open reading frame 13"", ""neuronal regeneration related protein homolog (rat)"""	C5orf13		8261136, 10981724, 15485502	Standard	NM_004772		Approved	P311, D4S114, PRO1873, PTZ17, SEZ17	uc011cvr.2	Q16612	OTTHUMG00000128795	ENST00000379671.3:c.172C>T	5.37:g.111066653G>A	ENSP00000368993:p.Arg58Cys					C5orf13_uc011cvr.1_Missense_Mutation_p.R102C|C5orf13_uc011cvs.1_Missense_Mutation_p.R92C|C5orf13_uc003kpk.2_Intron|C5orf13_uc003kpm.2_Missense_Mutation_p.R58C|C5orf13_uc011cvk.1_Missense_Mutation_p.R58C|C5orf13_uc011cvl.1_Missense_Mutation_p.R58C|C5orf13_uc011cvm.1_Missense_Mutation_p.R58C|C5orf13_uc011cvn.1_Missense_Mutation_p.R58C|C5orf13_uc011cvo.1_Missense_Mutation_p.R58C|C5orf13_uc011cvp.1_Missense_Mutation_p.R58C|C5orf13_uc011cvq.1_Missense_Mutation_p.R58C	p.R58C	NM_001142483	NP_001135955	Q16612	NP311_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;5.45e-09)|Epithelial(69;2e-08)|all cancers(49;1.9e-06)|COAD - Colon adenocarcinoma(37;0.0514)|Colorectal(14;0.0629)	3	651	-		all_cancers(142;0.00597)|all_epithelial(76;0.000144)|Prostate(80;0.0115)|Colorectal(10;0.0446)|Ovarian(225;0.156)	58					B2RDN8|B7Z5D2|D3DSZ8	Missense_Mutation	SNP	ENST00000379671.3	37	c.172C>T	CCDS4105.1	.	.	.	.	.	.	.	.	.	.	G	7.751	0.703350	0.15172	.	.	ENSG00000134986	ENST00000379671;ENST00000257435;ENST00000447165;ENST00000446294;ENST00000395634;ENST00000450761;ENST00000419114;ENST00000509427;ENST00000453526;ENST00000455559;ENST00000508870;ENST00000513100	T;T;T;T;T;T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.38	-0.201	0.13212	.	1.177410	0.06105	N	0.666123	T	0.35219	0.0924	.	.	.	0.09310	N	1	B;B;B	0.15930	0.015;0.015;0.002	B;B;B	0.13407	0.009;0.009;0.002	T	0.35201	-0.9798	9	0.52906	T	0.07	0.5581	7.0888	0.25272	0.0656:0.3288:0.491:0.1146	.	58;102;58	D6RIC9;B7Z5D2;Q16612	.;.;NP311_HUMAN	C	58;58;58;58;102;58;58;58;58;58;58;58	ENSP00000368993:R58C;ENSP00000257435:R58C;ENSP00000408839:R58C;ENSP00000402965:R58C;ENSP00000378996:R102C;ENSP00000416617:R58C;ENSP00000399766:R58C;ENSP00000422630:R58C;ENSP00000403383:R58C;ENSP00000392559:R58C;ENSP00000427149:R58C;ENSP00000427476:R58C	ENSP00000257435:R58C	R	-	1	0	C5orf13	111094552	0.077000	0.21312	0.002000	0.10522	0.993000	0.82548	0.775000	0.26689	0.232000	0.21100	0.655000	0.94253	CGC		0.458	NREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250722.1	NM_004772		26	82	0	0	0	0	26	82				
PCDHGB3	56102	broad.mit.edu	37	5	140778900	140778900	+	Intron	SNP	A	A	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr5:140778900A>T	ENST00000576222.1	+	1	2546				PCDHGA5_ENST00000518069.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1	Q9Y5G1	PCDGF_HUMAN	protocadherin gamma subfamily B, 3						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTGGTAACAGATGGAACCC	0.478																																						uc003lkf.1		NA																	0					0						c.(1204-1206)ACA>ACT		protocadherin gamma subfamily B, 5 isoform 1							73.0	78.0	77.0					5																	140778900		1973	4152	6125	SO:0001627	intron_variant	56101				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140778900A>T	AF152519	CCDS58980.1, CCDS75334.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8710	other	protocadherin		606301				10380929	Standard	NM_018924		Approved	PCDH-GAMMA-B3		Q9Y5G1		ENST00000576222.1:c.2415+26524A>T	5.37:g.140778900A>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc011daw.1_Silent_p.T402T	p.T402T	NM_018925	NP_061748	Q9Y5G0	PCDGH_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1206	+			402			Cadherin 4.|Extracellular (Potential).		A7E229|Q9Y5C7	Silent	SNP	ENST00000576222.1	37	c.1206A>T	CCDS58980.1																																																																																				0.478	PCDHGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437094.1	NM_018924		9	45	0	0	0	0	9	45				
PCDHGB7	56099	broad.mit.edu	37	5	140799566	140799566	+	Missense_Mutation	SNP	C	C	T	rs369649545		TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr5:140799566C>T	ENST00000398594.2	+	1	2140	c.2140C>T	c.(2140-2142)Cgc>Tgc	p.R714C	PCDHGA11_ENST00000518882.1_5'Flank|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000398587.2_5'Flank	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	714					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATTGCTCTACGCCTGCGACA	0.552																																						uc003lkn.1		NA																	0				ovary(2)	2						c.(2140-2142)CGC>TGC		protocadherin gamma subfamily B, 7 isoform 1		C	,,,,,,,,,,,,,,,CYS/ARG,,CYS/ARG	0,4232		0,0,2116	88.0	92.0	90.0		,,,,,,,,,,,,,,,2140,,2140	5.8	0.2	5		90	1,8483		0,1,4241	no	intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,intron,missense,intron,missense	PCDHGB4,PCDHGA8,PCDHGB7,PCDHGB6,PCDHGB5,PCDHGB3,PCDHGB2,PCDHGB1,PCDHGA10,PCDHGA9,PCDHGA7,PCDHGA6,PCDHGA5,PCDHGA4,PCDHGA3,PCDHGA2,PCDHGA1	NM_003736.2,NM_018912.2,NM_018913.2,NM_018915.2,NM_018916.3,NM_018917.2,NM_018918.2,NM_018919.2,NM_018920.2,NM_018921.2,NM_018922.2,NM_018923.2,NM_018924.2,NM_018925.2,NM_018926.2,NM_018927.3,NM_032088.1,NM_032101.2	,,,,,,,,,,,,,,,180,,180	0,1,6357	TT,TC,CC		0.0118,0.0,0.0079	,,,,,,,,,,,,,,,,,	,,,,,,,,,,,,,,,714/930,,714/809	140799566	1,12715	2116	4242	6358	SO:0001583	missense	56099				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140799566C>T	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.2140C>T	5.37:g.140799566C>T	ENSP00000381594:p.Arg714Cys					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkm.2_Missense_Mutation_p.R714C|PCDHGA11_uc003lko.1_5'Flank|PCDHGA11_uc003lkp.1_5'Flank|PCDHGA11_uc003lkq.1_5'Flank	p.R714C	NM_018927	NP_061750	Q9Y5F8	PCDGJ_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2285	+			714			Cytoplasmic (Potential).		Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.2140C>T	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	c	6.153	0.396410	0.11638	0.0	1.18E-4	ENSG00000254122	ENST00000398594	T	0.17054	2.3	5.77	5.77	0.91146	.	1.147930	0.06960	U	0.816105	T	0.26159	0.0638	M	0.85462	2.755	0.09310	N	1	B;P	0.36144	0.403;0.539	B;B	0.32724	0.032;0.151	T	0.41378	-0.9512	10	0.52906	T	0.07	.	7.2424	0.26104	0.1708:0.7421:0.0:0.0871	.	714;714	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	C	714	ENSP00000381594:R714C	ENSP00000381594:R714C	R	+	1	0	PCDHGB7	140779750	0.000000	0.05858	0.233000	0.24025	0.026000	0.11368	-0.043000	0.12043	2.724000	0.93272	0.561000	0.74099	CGC		0.552	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		26	54	0	0	0	0	26	54				
PCDHGA12	26025	broad.mit.edu	37	5	140810887	140810887	+	Silent	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr5:140810887C>T	ENST00000252085.3	+	1	703	c.561C>T	c.(559-561)gaC>gaT	p.D187D	PCDHGA11_ENST00000518882.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA11_ENST00000398587.2_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1	O60330	PCDGC_HUMAN	protocadherin gamma subfamily A, 12	187	Cadherin 2. {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)			breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGGAGCCGACGGTAGTAAGT	0.607																																						uc003lkt.1		NA																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(559-561)GAC>GAT		protocadherin gamma subfamily A, 12 isoform 1							92.0	99.0	96.0					5																	140810887		2203	4300	6503	SO:0001819	synonymous_variant	26025				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140810887C>T	AF152506	CCDS4260.1, CCDS75346.1	5q31	2010-01-26	2002-05-23		ENSG00000253159	ENSG00000253159		"""Cadherins / Protocadherins : Clustered"""	8699	other	protocadherin	"""fibroblast cadherin FIB3"""	603059	"""cadherin 21"""	CDH21		10380929	Standard	NM_003735		Approved	KIAA0588, FIB3, PCDH-GAMMA-A12		O60330	OTTHUMG00000129611	ENST00000252085.3:c.561C>T	5.37:g.140810887C>T						PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Silent_p.D187D	p.D187D	NM_003735	NP_003726	O60330	PCDGC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	730	+			187			Extracellular (Potential).|Cadherin 2.		O15100|Q6UW70|Q9Y5D7	Silent	SNP	ENST00000252085.3	37	c.561C>T	CCDS4260.1																																																																																				0.607	PCDHGA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251806.2	NM_003735		9	132	0	0	0	0	9	132				
ATP10B	23120	broad.mit.edu	37	5	160033923	160033923	+	Silent	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr5:160033923C>T	ENST00000327245.5	-	19	3855	c.3009G>A	c.(3007-3009)ttG>ttA	p.L1003L		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1003					phospholipid translocation (GO:0045332)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGATGGCATTCAATGTCTTCC	0.512																																						uc003lym.1		NA																	0				ovary(3)|central_nervous_system(1)|pancreas(1)	5						c.(3007-3009)TTG>TTA		ATPase, class V, type 10B							128.0	126.0	127.0					5																	160033923		2011	4165	6176	SO:0001819	synonymous_variant	23120				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr5:160033923C>T	AB018258	CCDS43394.1	5q34	2010-04-20	2007-09-19		ENSG00000118322	ENSG00000118322		"""ATPases / P-type"""	13543	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10B"""			9872452, 11015572	Standard	NM_025153		Approved	ATPVB, KIAA0715, FLJ21477	uc003lym.1	O94823	OTTHUMG00000163551	ENST00000327245.5:c.3009G>A	5.37:g.160033923C>T						ATP10B_uc010jit.1_Silent_p.L320L	p.L1003L	NM_025153	NP_079429	O94823	AT10B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		19	3856	-	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	1003			Cytoplasmic (Potential).		Q9H725	Silent	SNP	ENST00000327245.5	37	c.3009G>A	CCDS43394.1																																																																																				0.512	ATP10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374127.1	NM_025153		5	111	0	0	0	0	5	111				
FOXQ1	94234	broad.mit.edu	37	6	1313527	1313527	+	Silent	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr6:1313527C>G	ENST00000296839.2	+	1	853	c.588C>G	c.(586-588)ctC>ctG	p.L196L		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	196					hair follicle morphogenesis (GO:0031069)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		ACTGGATGCTCAACCCCAACA	0.711																																						uc003mtl.3		NA																	0					0						c.(586-588)CTC>CTG		forkhead box Q1							36.0	39.0	38.0					6																	1313527		2203	4296	6499	SO:0001819	synonymous_variant	94234				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding	g.chr6:1313527C>G	AF153341	CCDS4471.1	6p25	2008-02-05			ENSG00000164379	ENSG00000164379		"""Forkhead boxes"""	20951	protein-coding gene	gene with protein product		612788				11747606, 12011061	Standard	NM_033260		Approved	HFH1	uc003mtl.4	Q9C009	OTTHUMG00000016160	ENST00000296839.2:c.588C>G	6.37:g.1313527C>G							p.L196L	NM_033260	NP_150285	Q9C009	FOXQ1_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)	1	853	+	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)	196			Fork-head.		Q9NS06	Silent	SNP	ENST00000296839.2	37	c.588C>G	CCDS4471.1																																																																																				0.711	FOXQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043410.1	NM_033260		3	62	0	0	0	0	3	62				
SIRT5	23408	broad.mit.edu	37	6	13601120	13601120	+	Missense_Mutation	SNP	G	G	T	rs200008874		TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr6:13601120G>T	ENST00000606117.1	+	9	1092	c.796G>T	c.(796-798)Gcc>Tcc	p.A266S	SIRT5_ENST00000397350.2_Missense_Mutation_p.A158S|SIRT5_ENST00000379262.4_Missense_Mutation_p.A266S|SIRT5_ENST00000359782.3_Missense_Mutation_p.A248S	NM_012241.4	NP_036373.1			sirtuin 5											breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)			CCAGGTGGCTGCCAGGGGCGT	0.577																																						uc003nay.2		NA																	0				skin(2)|upper_aerodigestive_tract(1)	3						c.(796-798)GCC>TCC		sirtuin 5 isoform 1	Suramin(DB04786)						65.0	56.0	59.0					6																	13601120		2203	4300	6503	SO:0001583	missense	23408				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding	g.chr6:13601120G>T	AF083110	CCDS4526.1, CCDS4527.1, CCDS54966.1, CCDS56398.1	6p23	2010-08-05	2010-06-25		ENSG00000124523	ENSG00000124523			14933	protein-coding gene	gene with protein product		604483	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 5"", ""sirtuin (silent mating type information regulation 2 homolog) 5 (S. cerevisiae)"""			10381378	Standard	NM_012241		Approved		uc003nay.3	Q9NXA8	OTTHUMG00000014278	ENST00000606117.1:c.796G>T	6.37:g.13601120G>T	ENSP00000476228:p.Ala266Ser					SIRT5_uc003naw.2_Missense_Mutation_p.A266S|SIRT5_uc003nax.2_Missense_Mutation_p.A158S|SIRT5_uc011dit.1_Missense_Mutation_p.A248S	p.A266S	NM_012241	NP_036373	Q9NXA8	SIRT5_HUMAN	Epithelial(50;0.176)		9	1092	+	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	266			Deacetylase sirtuin-type.			Missense_Mutation	SNP	ENST00000606117.1	37	c.796G>T	CCDS4526.1	.	.	.	.	.	.	.	.	.	.	G	9.062	0.994694	0.19043	.	.	ENSG00000124523	ENST00000359782;ENST00000379262;ENST00000397350;ENST00000379250	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.07	1.96	0.26148	.	0.286983	0.37955	N	0.001875	T	0.07007	0.0178	N	0.04820	-0.15	0.47037	D	0.999294	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.09377	0.004;0.002;0.004	T	0.22173	-1.0224	10	0.08837	T	0.75	-26.3575	10.9447	0.47294	0.0:0.1204:0.6218:0.2577	.	248;266;266	F5H5Z9;Q9NXA8;Q9NXA8-2	.;SIRT5_HUMAN;.	S	248;266;158;266	ENSP00000352830:A248S;ENSP00000368564:A266S;ENSP00000380509:A158S;ENSP00000368552:A266S	ENSP00000352830:A248S	A	+	1	0	SIRT5	13709099	0.990000	0.36364	0.970000	0.41538	0.989000	0.77384	2.629000	0.46485	0.574000	0.29417	0.591000	0.81541	GCC		0.577	SIRT5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039908.2			7	39	1	0	0.000274275	0.000300357	7	39				
RBM24	221662	broad.mit.edu	37	6	17291995	17291995	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr6:17291995C>T	ENST00000379052.5	+	4	592	c.356C>T	c.(355-357)gCc>gTc	p.A119V	RBM24_ENST00000318204.5_Missense_Mutation_p.A74V|RBM24_ENST00000425446.2_Missense_Mutation_p.A61V|RBM24_ENST00000508508.1_3'UTR	NM_001143942.1	NP_001137414.1	Q9BX46	RBM24_HUMAN	RNA binding motif protein 24	119					cell differentiation (GO:0030154)|regulation of mRNA stability (GO:0043488)|regulation of myotube differentiation (GO:0010830)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)			endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	13	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	all cancers(50;0.131)|Epithelial(50;0.15)			AGGATACCTGCCCACTATGTC	0.483																																						uc003nbz.3		NA																	0				ovary(1)|skin(1)	2						c.(355-357)GCC>GTC		RNA binding motif protein 24 isoform 1							112.0	122.0	119.0					6																	17291995		2073	4224	6297	SO:0001583	missense	221662				cell differentiation|regulation of mRNA stability|regulation of myotube differentiation	cytoplasm|nucleus	mRNA 3'-UTR binding|nucleotide binding	g.chr6:17291995C>T	BC040928	CCDS4538.1, CCDS47378.1, CCDS47379.1	6p22.3	2013-02-12	2004-04-23	2004-04-23	ENSG00000112183	ENSG00000112183		"""RNA binding motif (RRM) containing"""	21539	protein-coding gene	gene with protein product			"""RNA-binding region (RNP1, RRM) containing 6"""	RNPC6			Standard	NM_153020		Approved	FLJ30829, dJ259A10.1	uc003nbz.4	Q9BX46	OTTHUMG00000014306	ENST00000379052.5:c.356C>T	6.37:g.17291995C>T	ENSP00000368341:p.Ala119Val					RBM24_uc003nby.3_3'UTR|RBM24_uc011dix.1_Missense_Mutation_p.A61V|RBM24_uc003nca.2_Missense_Mutation_p.A74V|RBM24_uc011diy.1_Missense_Mutation_p.P33S|RBM24_uc011diz.1_Missense_Mutation_p.P18S	p.A119V	NM_001143942	NP_001137414	Q9BX46	RBM24_HUMAN	all cancers(50;0.131)|Epithelial(50;0.15)		4	360	+	Breast(50;0.0615)|Ovarian(93;0.0733)	all_hematologic(90;0.062)	119					E9PAY4|Q6QDA4|Q8N9D3|Q96NI3	Missense_Mutation	SNP	ENST00000379052.5	37	c.356C>T	CCDS47378.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.29|17.29	3.353199|3.353199	0.61293|0.61293	.|.	.|.	ENSG00000112183|ENSG00000112183	ENST00000379052;ENST00000425446;ENST00000318204|ENST00000503965	T;T;T|.	0.18960|.	2.52;2.18;2.19|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.050828|.	0.85682|.	D|.	0.000000|.	T|T	0.49218|0.49218	0.1544|0.1544	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	P;P|P;P	0.44734|0.41848	0.842;0.456|0.763;0.763	P;B|B;P	0.47645|0.44897	0.553;0.13|0.387;0.463	T|T	0.42732|0.42732	-0.9434|-0.9434	10|7	0.45353|.	T|.	0.12|.	-4.4751|-4.4751	19.8414|19.8414	0.96690|0.96690	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	74;119|18;33	Q9BX46-2;Q9BX46|B7Z6B4;B7Z6B7	.;RBM24_HUMAN|.;.	V|S	119;61;74|84	ENSP00000368341:A119V;ENSP00000396898:A61V;ENSP00000319551:A74V|.	ENSP00000319551:A74V|.	A|P	+|+	2|1	0|0	RBM24|RBM24	17399974|17399974	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.648000|7.648000	0.83479|0.83479	2.695000|2.695000	0.91970|0.91970	0.591000|0.591000	0.81541|0.81541	GCC|CCC		0.483	RBM24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039946.2	NM_153020		26	162	0	0	0	0	26	162				
ETV7	51513	broad.mit.edu	37	6	36334462	36334462	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr6:36334462C>T	ENST00000340181.4	-	8	1227	c.986G>A	c.(985-987)aGa>aAa	p.R329K	ETV7_ENST00000373738.1_Missense_Mutation_p.R274K|ETV7_ENST00000538992.1_Missense_Mutation_p.R178K|ETV7_ENST00000373737.4_Missense_Mutation_p.R252K|ETV7_ENST00000339796.5_Intron	NM_001207037.1|NM_001207040.1|NM_016135.3	NP_001193966.1|NP_001193969.1|NP_057219.1	Q9Y603	ETV7_HUMAN	ets variant 7	329					cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ morphogenesis (GO:0009887)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	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)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						GAACTCTATTCTGTCCTGCTC	0.577																																						uc003omb.2		NA																	0				ovary(1)|skin(1)	2						c.(985-987)AGA>AAA		ets variant 7							125.0	123.0	124.0					6																	36334462		2203	4300	6503	SO:0001583	missense	51513				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr6:36334462C>T	AF116508	CCDS4819.1, CCDS56422.1, CCDS56423.1, CCDS56424.1, CCDS56425.1, CCDS75440.1, CCDS75441.1	6p21	2008-09-12	2008-09-12		ENSG00000010030	ENSG00000010030			18160	protein-coding gene	gene with protein product	"""TEL2 oncogene"""	605255	"""ets variant gene 7 (TEL2 oncogene)"""			10828014, 11108721	Standard	NM_016135		Approved	TEL2, TEL-2	uc003omb.3	Q9Y603	OTTHUMG00000014594	ENST00000340181.4:c.986G>A	6.37:g.36334462C>T	ENSP00000341843:p.Arg329Lys					ETV7_uc003olz.1_Intron|ETV7_uc003oma.1_Intron|ETV7_uc010jwg.2_RNA|ETV7_uc003omc.2_Missense_Mutation_p.R274K|ETV7_uc010jwj.2_Missense_Mutation_p.R270K|ETV7_uc010jwh.2_Missense_Mutation_p.R248K|ETV7_uc010jwi.2_Missense_Mutation_p.R252K|ETV7_uc011dtl.1_Missense_Mutation_p.R178K	p.R329K	NM_016135	NP_057219	Q9Y603	ETV7_HUMAN			8	1135	-			329					B3KVC2|B4DVB6|B4E1G4|Q5R3L3|Q5R3L4|Q9NZ65|Q9NZ66|Q9NZ68|Q9NZR8|Q9UNJ7|Q9Y5K4|Q9Y604	Missense_Mutation	SNP	ENST00000340181.4	37	c.986G>A	CCDS4819.1	.	.	.	.	.	.	.	.	.	.	C	3.714	-0.058913	0.07317	.	.	ENSG00000010030	ENST00000340181;ENST00000373737;ENST00000373738;ENST00000538992	T;T;T;T	0.13307	3.19;2.84;2.82;2.6	4.19	2.35	0.29111	.	1.960210	0.02392	N	0.079740	T	0.02888	0.0086	L	0.27053	0.805	0.09310	N	1	P;B;P;P	0.41450	0.631;0.191;0.75;0.61	B;B;B;B	0.40901	0.343;0.125;0.316;0.277	T	0.29731	-1.0002	10	0.06625	T	0.88	.	6.7285	0.23371	0.0:0.6835:0.0:0.3165	.	270;252;274;329	Q9Y603-2;Q9Y603-7;Q9Y603-4;Q9Y603	.;.;.;ETV7_HUMAN	K	329;252;274;178	ENSP00000341843:R329K;ENSP00000362842:R252K;ENSP00000362843:R274K;ENSP00000440592:R178K	ENSP00000341843:R329K	R	-	2	0	ETV7	36442440	0.371000	0.25056	0.013000	0.15412	0.178000	0.23041	2.381000	0.44336	0.747000	0.32809	0.313000	0.20887	AGA		0.577	ETV7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040341.1	NM_016135		6	149	0	0	0	0	6	149				
UTRN	7402	broad.mit.edu	37	6	145103095	145103095	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr6:145103095C>G	ENST00000367545.3	+	60	8670	c.8670C>G	c.(8668-8670)ttC>ttG	p.F2890L	UTRN_ENST00000367526.4_Missense_Mutation_p.F445L	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2890	Interaction with SYNM.				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)		ATGAAATTTTCAAACAGCACA	0.368																																						uc003qkt.2		NA																	0				ovary(4)|pancreas(1)	5						c.(8668-8670)TTC>TTG		utrophin							100.0	96.0	97.0					6																	145103095		2203	4300	6503	SO:0001583	missense	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.chr6:145103095C>G	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.8670C>G	6.37:g.145103095C>G	ENSP00000356515:p.Phe2890Leu						p.F2890L	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)	60	8762	+		Ovarian(120;0.218)	2890			Interaction with SYNM.		Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	ENST00000367545.3	37	c.8670C>G	CCDS34547.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.168728	0.78339	.	.	ENSG00000152818	ENST00000367545;ENST00000367526	T;T	0.56941	0.43;0.43	5.49	4.59	0.56863	EF-hand domain, type 1 (1);EF-hand-like domain (1);	0.000000	0.56097	D	0.000033	T	0.40171	0.1106	L	0.45228	1.405	0.46167	D	0.998909	B	0.24092	0.097	B	0.37731	0.257	T	0.34675	-0.9819	10	0.34782	T	0.22	.	15.7044	0.77565	0.1372:0.8628:0.0:0.0	.	2890	P46939	UTRO_HUMAN	L	2890;445	ENSP00000356515:F2890L;ENSP00000356496:F445L	ENSP00000356496:F445L	F	+	3	2	UTRN	145144788	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	1.162000	0.31786	2.582000	0.87167	0.557000	0.71058	TTC		0.368	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042551.1			4	37	0	0	0	0	4	37				
RGS17	26575	broad.mit.edu	37	6	153347617	153347617	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr6:153347617T>G	ENST00000367225.2	-	2	205	c.181A>C	c.(181-183)Atg>Ctg	p.M61L	RGS17_ENST00000206262.1_Missense_Mutation_p.M61L			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	61					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		ATACTCTCCATTTTTGTAGTG	0.413																																					Esophageal Squamous(78;500 1236 6775 24364 49058)	uc003qpm.2		NA																	0				pancreas(1)	1						c.(181-183)ATG>CTG		regulator of G-protein signalling 17							342.0	241.0	275.0					6																	153347617		2203	4300	6503	SO:0001583	missense	26575	Lung_Cancer_Familial_Clustering_of			negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr6:153347617T>G	AF202257	CCDS5244.1	6q25-q26	2009-05-29	2007-08-14		ENSG00000091844	ENSG00000091844		"""Regulators of G-protein signaling"""	14088	protein-coding gene	gene with protein product		607191	"""regulator of G-protein signalling 17"""			10419452	Standard	NM_012419		Approved	RGSZ2, RGS-17	uc003qpm.3	Q9UGC6	OTTHUMG00000015858	ENST00000367225.2:c.181A>C	6.37:g.153347617T>G	ENSP00000356194:p.Met61Leu						p.M61L	NM_012419	NP_036551	Q9UGC6	RGS17_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)	3	337	-		Ovarian(120;0.126)	61					Q5TF49|Q8TD61|Q9UJS8	Missense_Mutation	SNP	ENST00000367225.2	37	c.181A>C	CCDS5244.1	.	.	.	.	.	.	.	.	.	.	T	3.562	-0.089419	0.07053	.	.	ENSG00000091844	ENST00000367225;ENST00000206262	T;T	0.39997	1.05;1.05	5.38	5.38	0.77491	.	6.084050	0.00465	N	0.000105	T	0.15478	0.0373	N	0.21194	0.64	0.49915	D	0.99983	B	0.02656	0.0	B	0.01281	0.0	T	0.19484	-1.0304	10	0.07990	T	0.79	-1.3729	12.7761	0.57448	0.0:0.0:0.1363:0.8637	.	61	Q9UGC6	RGS17_HUMAN	L	61	ENSP00000356194:M61L;ENSP00000206262:M61L	ENSP00000206262:M61L	M	-	1	0	RGS17	153389310	1.000000	0.71417	0.989000	0.46669	0.924000	0.55760	1.781000	0.38644	2.177000	0.69029	0.528000	0.53228	ATG		0.413	RGS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042773.2			31	79	0	0	0	0	31	79				
SERAC1	84947	broad.mit.edu	37	6	158565392	158565392	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr6:158565392C>T	ENST00000367104.3	-	7	679	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	SERAC1_ENST00000367101.1_Missense_Mutation_p.R183Q|SERAC1_ENST00000367102.2_Missense_Mutation_p.R183Q	NM_032861.3	NP_116250.3	Q96JX3	SRAC1_HUMAN	serine active site containing 1	183					extracellular matrix organization (GO:0030198)|GPI anchor metabolic process (GO:0006505)|intracellular protein transport (GO:0006886)|phospholipid biosynthetic process (GO:0008654)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		CTCTTCGCTTCGTGCCAAACC	0.338																																						uc003qrc.2		NA																	0					0						c.(547-549)CGA>CAA		serine active site containing 1							85.0	87.0	87.0					6																	158565392		2203	4300	6503	SO:0001583	missense	84947				GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds	g.chr6:158565392C>T	BC001705	CCDS5255.1	6q25.3	2003-05-12			ENSG00000122335	ENSG00000122335			21061	protein-coding gene	gene with protein product		614725					Standard	NM_032861		Approved	FLJ14917	uc003qrc.2	Q96JX3	OTTHUMG00000015905	ENST00000367104.3:c.548G>A	6.37:g.158565392C>T	ENSP00000356071:p.Arg183Gln					SERAC1_uc003qrb.2_5'UTR	p.R183Q	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)	7	690	-		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)	183					Q49AT1|Q5VTX3|Q6PKF3	Missense_Mutation	SNP	ENST00000367104.3	37	c.548G>A	CCDS5255.1	.	.	.	.	.	.	.	.	.	.	C	35	5.574234	0.96553	.	.	ENSG00000122335	ENST00000367102;ENST00000367104;ENST00000367101	T;T;T	0.71698	-0.59;-0.59;-0.59	5.8	5.8	0.92144	Armadillo-like helical (1);	0.000000	0.85682	D	0.000000	D	0.83059	0.5172	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.84215	0.0458	10	0.87932	D	0	-13.0151	18.8408	0.92183	0.0:1.0:0.0:0.0	.	183	Q96JX3	SRAC1_HUMAN	Q	183	ENSP00000356069:R183Q;ENSP00000356071:R183Q;ENSP00000356068:R183Q	ENSP00000356068:R183Q	R	-	2	0	SERAC1	158485380	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.288000	0.72679	2.758000	0.94735	0.563000	0.77884	CGA		0.338	SERAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042862.1	NM_032861		4	47	0	0	0	0	4	47				
THBS2	7058	broad.mit.edu	37	6	169648845	169648845	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr6:169648845C>G	ENST00000366787.3	-	4	525	c.276G>C	c.(274-276)caG>caC	p.Q92H		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	92	Heparin-binding. {ECO:0000255}.|Laminin G-like.				cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		ACTTGCCGTCCTGCTTGAGCT	0.622																																					Esophageal Squamous(91;219 1934 18562 44706)	uc003qwt.2		NA																	0				ovary(5)	5						c.(274-276)CAG>CAC		thrombospondin 2 precursor							121.0	104.0	110.0					6																	169648845		2203	4300	6503	SO:0001583	missense	7058				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	g.chr6:169648845C>G		CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.276G>C	6.37:g.169648845C>G	ENSP00000355751:p.Gln92His						p.Q92H	NM_003247	NP_003238	P35442	TSP2_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)	4	524	-		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)	92			TSP N-terminal.|Heparin-binding (Potential).		A6H8N1|A7E232|Q5RI52	Missense_Mutation	SNP	ENST00000366787.3	37	c.276G>C	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.127144	0.37533	.	.	ENSG00000186340	ENST00000366787	T	0.02216	4.39	4.55	4.55	0.56014	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.000000	0.39146	U	0.001457	T	0.06554	0.0168	M	0.81942	2.565	0.38806	D	0.955304	D	0.76494	0.999	D	0.85130	0.997	T	0.00624	-1.1639	10	0.87932	D	0	-33.6242	8.3518	0.32307	0.0:0.7736:0.0:0.2264	.	92	P35442	TSP2_HUMAN	H	92	ENSP00000355751:Q92H	ENSP00000355751:Q92H	Q	-	3	2	THBS2	169390770	1.000000	0.71417	1.000000	0.80357	0.056000	0.15407	2.347000	0.44036	2.250000	0.74265	0.563000	0.77884	CAG		0.622	THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247		8	65	0	0	0	0	8	65				
EIF2AK1	27102	broad.mit.edu	37	7	6085734	6085734	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr7:6085734T>A	ENST00000199389.6	-	6	744	c.598A>T	c.(598-600)Att>Ttt	p.I200F	EIF2AK1_ENST00000495565.1_5'UTR|RN7SL851P_ENST00000480512.2_RNA|EIF2AK1_ENST00000536084.1_Missense_Mutation_p.I76F	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	200	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		GCACCCTTAATCAGGATTTTT	0.254																																						uc003spp.2		NA																	0				upper_aerodigestive_tract(1)|stomach(1)|lung(1)|central_nervous_system(1)	4						c.(598-600)ATT>TTT		eukaryotic translation initiation factor 2-alpha							85.0	84.0	84.0					7																	6085734		2201	4297	6498	SO:0001583	missense	27102				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity	g.chr7:6085734T>A	BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"""heme regulated initiation factor 2 alpha kinase"""	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.598A>T	7.37:g.6085734T>A	ENSP00000199389:p.Ile200Phe					EIF2AK1_uc003spq.2_Missense_Mutation_p.I200F|EIF2AK1_uc011jwm.1_Missense_Mutation_p.I76F|EIF2AK1_uc003spr.1_5'UTR	p.I200F	NM_014413	NP_055228	Q9BQI3	E2AK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)	6	744	-		Ovarian(82;0.0423)	200			Protein kinase.		A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Missense_Mutation	SNP	ENST00000199389.6	37	c.598A>T	CCDS5345.1	.	.	.	.	.	.	.	.	.	.	.	23.9	4.474589	0.84640	.	.	ENSG00000086232	ENST00000199389;ENST00000536084	T;T	0.65916	-0.18;-0.18	4.97	4.97	0.65823	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.049962	0.85682	D	0.000000	T	0.60625	0.2283	N	0.05280	-0.08	0.58432	D	0.999998	B;D;D	0.89917	0.351;0.979;1.0	P;D;D	0.79784	0.53;0.917;0.993	T	0.67956	-0.5536	10	0.45353	T	0.12	-13.5612	14.6126	0.68526	0.0:0.0:0.0:1.0	.	76;200;200	B4DIP4;Q9BQI3-2;Q9BQI3	.;.;E2AK1_HUMAN	F	200;76	ENSP00000199389:I200F;ENSP00000445784:I76F	ENSP00000199389:I200F	I	-	1	0	EIF2AK1	6052260	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.091000	0.71406	1.978000	0.57642	0.528000	0.53228	ATT		0.254	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207373.2	NM_014413		5	21	0	0	0	0	5	21				
AGMO	392636	broad.mit.edu	37	7	15240926	15240926	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr7:15240926G>C	ENST00000342526.3	-	13	1491	c.1322C>G	c.(1321-1323)tCt>tGt	p.S441C		NM_001004320.1	NP_001004320.1	Q6ZNB7	ALKMO_HUMAN	alkylglycerol monooxygenase	441					ether lipid metabolic process (GO:0046485)|fatty acid biosynthetic process (GO:0006633)|membrane lipid metabolic process (GO:0006643)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glyceryl-ether monooxygenase activity (GO:0050479)|iron ion binding (GO:0005506)			breast(1)|kidney(1)|large_intestine(6)|liver(1)|lung(30)|prostate(1)|skin(2)	42						CCAAGGGTGAGAGGTGAGTTG	0.308																																						uc003stb.1		NA																	0					0						c.(1321-1323)TCT>TGT		transmembrane protein 195							95.0	99.0	97.0					7																	15240926		2203	4297	6500	SO:0001583	missense	392636				ether lipid metabolic process|fatty acid biosynthetic process|membrane lipid metabolic process	endoplasmic reticulum membrane|integral to membrane	glyceryl-ether monooxygenase activity|iron ion binding	g.chr7:15240926G>C		CCDS34604.1	7p21.1	2013-03-04	2011-01-31	2011-01-31	ENSG00000187546	ENSG00000187546	1.14.16.5	"""Fatty acid hydroxylase domain containing"""	33784	protein-coding gene	gene with protein product		613738	"""transmembrane protein 195"""	TMEM195		20643956	Standard	NM_001004320		Approved	FLJ16237	uc003stb.1	Q6ZNB7	OTTHUMG00000152387	ENST00000342526.3:c.1322C>G	7.37:g.15240926G>C	ENSP00000341662:p.Ser441Cys						p.S441C	NM_001004320	NP_001004320	Q6ZNB7	ALKMO_HUMAN			13	1492	-			441					A4D114|A6NCH5	Missense_Mutation	SNP	ENST00000342526.3	37	c.1322C>G	CCDS34604.1	.	.	.	.	.	.	.	.	.	.	G	12.44	1.938355	0.34189	.	.	ENSG00000187546	ENST00000342526	T	0.34275	1.37	4.99	4.99	0.66335	.	0.822441	0.11104	N	0.599352	T	0.38585	0.1046	L	0.43152	1.355	0.26366	N	0.976974	P	0.47604	0.898	B	0.43701	0.428	T	0.34030	-0.9845	10	0.72032	D	0.01	-14.2428	15.3078	0.74008	0.0:0.0:1.0:0.0	.	441	Q6ZNB7	ALKMO_HUMAN	C	441	ENSP00000341662:S441C	ENSP00000341662:S441C	S	-	2	0	AGMO	15207451	0.970000	0.33590	0.030000	0.17652	0.001000	0.01503	2.111000	0.41883	2.594000	0.87642	0.655000	0.94253	TCT		0.308	AGMO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000326049.2	NM_001004320		8	47	0	0	0	0	8	47				
CACNA2D1	781	broad.mit.edu	37	7	81714097	81714097	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr7:81714097G>A	ENST00000356253.5	-	7	901	c.646C>T	c.(646-648)Cga>Tga	p.R216*	CACNA2D1_ENST00000356860.3_Nonsense_Mutation_p.R216*|CACNA2D1_ENST00000423588.1_Nonsense_Mutation_p.R216*			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	216					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	GGATAATATCGAGCTAGGCCA	0.423																																						uc003uhr.1		NA																	0				ovary(5)|pancreas(1)	6						c.(646-648)CGA>TGA		calcium channel, voltage-dependent, alpha	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						98.0	96.0	96.0					7																	81714097		2203	4300	6503	SO:0001587	stop_gained	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81714097G>A	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.646C>T	7.37:g.81714097G>A	ENSP00000348589:p.Arg216*						p.R216*	NM_000722	NP_000713	P54289	CA2D1_HUMAN			7	902	-			216			Extracellular (Potential).		Q17R45|Q9UD80|Q9UD81|Q9UD82	Nonsense_Mutation	SNP	ENST00000356253.5	37	c.646C>T		.	.	.	.	.	.	.	.	.	.	G	42	9.518347	0.99193	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000423588	.	.	.	5.96	3.97	0.46021	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.8311	12.7839	0.57493	0.0:0.0:0.3152:0.6848	.	.	.	.	X	216	.	ENSP00000284088:R216X	R	-	1	2	CACNA2D1	81552033	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	3.200000	0.51051	0.774000	0.33427	0.650000	0.86243	CGA		0.423	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				13	45	0	0	0	0	13	45				
TMEM130	222865	broad.mit.edu	37	7	98446224	98446224	+	Silent	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr7:98446224C>T	ENST00000416379.2	-	7	1105	c.1101G>A	c.(1099-1101)caG>caA	p.Q367Q	TMEM130_ENST00000546258.1_Silent_p.Q348Q|TMEM130_ENST00000450876.1_Silent_p.Q283Q|TMEM130_ENST00000345589.4_Silent_p.Q265Q|TMEM130_ENST00000474857.1_5'Flank|TMEM130_ENST00000339375.4_Silent_p.Q367Q			Q8N3G9	TM130_HUMAN	transmembrane protein 130	367						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGTCCTTTTGCTGAGTGGCAT	0.557																																						uc003upo.2		NA																	0				ovary(1)|central_nervous_system(1)	2						c.(1099-1101)CAG>CAA		transmembrane protein 130 isoform a							145.0	127.0	133.0					7																	98446224		2203	4300	6503	SO:0001819	synonymous_variant	222865					Golgi membrane|integral to membrane		g.chr7:98446224C>T		CCDS5658.1, CCDS47649.1, CCDS47650.1	7q22.1	2006-03-09			ENSG00000166448	ENSG00000166448			25429	protein-coding gene	gene with protein product						12975309	Standard	NM_152913		Approved	DKFZp761L1417, FLJ42643	uc003upo.3	Q8N3G9	OTTHUMG00000154419	ENST00000416379.2:c.1101G>A	7.37:g.98446224C>T						TMEM130_uc011kiq.1_Silent_p.Q348Q|TMEM130_uc011kir.1_Silent_p.Q367Q|TMEM130_uc003upn.2_Silent_p.Q265Q	p.Q367Q	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		7	1290	-	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		367			Cytoplasmic (Potential).		A4D266|B7Z364|Q8IY46|Q8N0W9|Q8N3R2	Silent	SNP	ENST00000416379.2	37	c.1101G>A	CCDS47650.1																																																																																				0.557	TMEM130-008	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000380713.1	NM_152913		13	67	0	0	0	0	13	67				
PTCD1	26024	broad.mit.edu	37	7	99027337	99027337	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr7:99027337C>G	ENST00000292478.4	-	4	937	c.687G>C	c.(685-687)caG>caC	p.Q229H	PTCD1_ENST00000485746.1_5'UTR|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.Q278H|PTCD1_ENST00000555673.1_Missense_Mutation_p.Q278H	NM_015545.3	NP_056360.2	O75127	PTCD1_HUMAN	pentatricopeptide repeat domain 1	229					tRNA 3'-end processing (GO:0042780)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|tRNA binding (GO:0000049)			endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TCAGGGCGCTCTGTAGAGCTG	0.597																																						uc003uqh.2		NA																	0				ovary(1)	1						c.(685-687)CAG>CAC		pentatricopeptide repeat domain 1							83.0	79.0	80.0					7																	99027337		2203	4300	6503	SO:0001583	missense	26024							g.chr7:99027337C>G	AB014532	CCDS34691.1	7q22.1	2006-01-27				ENSG00000106246			22198	protein-coding gene	gene with protein product		614774					Standard	NM_015545		Approved	KIAA0632		O75127		ENST00000292478.4:c.687G>C	7.37:g.99027337C>G	ENSP00000292478:p.Gln229His					PTCD1_uc011kiw.1_Missense_Mutation_p.Q278H	p.Q229H	NM_015545	NP_056360	O75127	PTCD1_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		4	818	-	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		229			PPR 3.		Q3ZB78|Q66K60|Q9UDV2	Missense_Mutation	SNP	ENST00000292478.4	37	c.687G>C	CCDS34691.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688813	0.68271	.	.	ENSG00000106246;ENSG00000106246;ENSG00000248919	ENST00000292478;ENST00000555673;ENST00000413834	T;T;T	0.66638	-0.22;-0.2;-0.2	5.34	5.34	0.76211	.	0.175453	0.51477	D	0.000089	T	0.77123	0.4084	L	0.60455	1.87	0.47547	D	0.999459	D;D	0.89917	1.0;0.997	D;D	0.73380	0.98;0.921	T	0.75584	-0.3267	10	0.38643	T	0.18	-27.6118	13.3489	0.60591	0.0:0.9242:0.0:0.0758	.	278;229	G3V325;O75127	.;PTCD1_HUMAN	H	229;278;278	ENSP00000292478:Q229H;ENSP00000450995:Q278H;ENSP00000400168:Q278H	ENSP00000400168:Q278H	Q	-	3	2	ATP5J2-PTCD1;PTCD1	98865273	1.000000	0.71417	1.000000	0.80357	0.767000	0.43475	2.659000	0.46741	2.513000	0.84729	0.655000	0.94253	CAG		0.597	PTCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336391.1	NM_015545		4	63	0	0	0	0	4	63				
ZSCAN21	7589	broad.mit.edu	37	7	99654858	99654858	+	Missense_Mutation	SNP	G	G	A	rs555411621		TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr7:99654858G>A	ENST00000292450.4	+	2	393	c.229G>A	c.(229-231)Gag>Aag	p.E77K	ZSCAN21_ENST00000543588.1_Missense_Mutation_p.E77K|ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.E77K	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	77	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GCTGAGGCCCGAGATCCACAC	0.637																																						uc003uso.2		NA																	0				ovary(3)	3						c.(229-231)GAG>AAG		zinc finger protein 38							45.0	48.0	47.0					7																	99654858		2203	4300	6503	SO:0001583	missense	7589				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99654858G>A	AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"""-"", ""Zinc fingers, C2H2-type"""	13104	protein-coding gene	gene with protein product		601261	"""zinc finger protein 38 (KOX 25)"", ""zinc finger protein 38"""	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.229G>A	7.37:g.99654858G>A	ENSP00000292450:p.Glu77Lys					ZSCAN21_uc011kje.1_Missense_Mutation_p.E76K|ZSCAN21_uc003usn.1_Missense_Mutation_p.E76K	p.E77K	NM_145914	NP_666019	Q9Y5A6	ZSC21_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		2	373	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		77			SCAN box.		A4D2A6|D6W5T9|Q9H0B5	Missense_Mutation	SNP	ENST00000292450.4	37	c.229G>A	CCDS5681.1	.	.	.	.	.	.	.	.	.	.	G	28.9	4.961676	0.92791	.	.	ENSG00000166529	ENST00000543588;ENST00000292450;ENST00000456748;ENST00000438937;ENST00000379635	T;T;T;T	0.07216	3.21;3.21;3.21;3.21	4.91	4.91	0.64330	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	0.000000	0.35870	N	0.002924	T	0.38612	0.1047	M	0.92691	3.335	0.42767	D	0.993825	D;D	0.89917	0.999;1.0	D;D	0.85130	0.952;0.997	T	0.49661	-0.8916	10	0.87932	D	0	.	15.9751	0.80057	0.0:0.0:1.0:0.0	.	77;77	Q9Y5A6;G3V1M0	ZSC21_HUMAN;.	K	77	ENSP00000441212:E77K;ENSP00000292450:E77K;ENSP00000390960:E77K;ENSP00000404207:E77K	ENSP00000292450:E77K	E	+	1	0	ZSCAN21	99492794	1.000000	0.71417	0.941000	0.38009	0.974000	0.67602	4.845000	0.62853	2.721000	0.93114	0.655000	0.94253	GAG		0.637	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	NM_145914		5	40	0	0	0	0	5	40				
EPO	2056	broad.mit.edu	37	7	100320365	100320365	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr7:100320365G>C	ENST00000252723.2	+	4	506	c.325G>C	c.(325-327)Gtc>Ctc	p.V109L		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	109					aging (GO:0007568)|apoptotic process (GO:0006915)|blood circulation (GO:0008015)|cellular hyperosmotic response (GO:0071474)|cellular response to hypoxia (GO:0071456)|embryo implantation (GO:0007566)|erythrocyte maturation (GO:0043249)|hemoglobin biosynthetic process (GO:0042541)|negative regulation of calcium ion transport into cytosol (GO:0010523)|negative regulation of cation channel activity (GO:2001258)|negative regulation of erythrocyte apoptotic process (GO:1902251)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA replication (GO:0045740)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to axon injury (GO:0048678)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to hyperoxia (GO:0055093)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to salt stress (GO:0009651)|response to testosterone (GO:0033574)|response to vitamin A (GO:0033189)|signal transduction (GO:0007165)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	protein kinase activator activity (GO:0030295)			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGCCCTGTTGGTCAACTCTTC	0.657																																						uc003uwi.2		NA																	0				central_nervous_system(2)	2						c.(325-327)GTC>CTC		erythropoietin precursor	Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)						29.0	33.0	32.0					7																	100320365		2203	4300	6503	SO:0001583	missense	2056				blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity	g.chr7:100320365G>C	X02157	CCDS5705.1	7q21	2014-01-30			ENSG00000130427	ENSG00000130427		"""Endogenous ligands"""	3415	protein-coding gene	gene with protein product		133170				9799793, 3838366	Standard	NM_000799		Approved	EP	uc003uwi.3	P01588	OTTHUMG00000152121	ENST00000252723.2:c.325G>C	7.37:g.100320365G>C	ENSP00000252723:p.Val109Leu					EPO_uc011kkc.1_Missense_Mutation_p.V109L	p.V109L	NM_000799	NP_000790	P01588	EPO_HUMAN			4	506	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		109					Q2M2L6|Q549U2|Q9UDZ0|Q9UEZ5|Q9UHA0	Missense_Mutation	SNP	ENST00000252723.2	37	c.325G>C	CCDS5705.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.258849	0.23051	.	.	ENSG00000130427	ENST00000252723	T	0.41400	1.0	4.4	3.52	0.40303	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.141592	0.47093	D	0.000241	T	0.21267	0.0512	N	0.08118	0	0.21256	N	0.999749	B;B	0.06786	0.001;0.001	B;B	0.08055	0.003;0.003	T	0.13335	-1.0513	10	0.42905	T	0.14	-32.987	8.2534	0.31739	0.1094:0.0:0.8906:0.0	.	109;109	B7ZKK5;P01588	.;EPO_HUMAN	L	109	ENSP00000252723:V109L	ENSP00000252723:V109L	V	+	1	0	EPO	100158301	1.000000	0.71417	0.999000	0.59377	0.322000	0.28314	2.850000	0.48294	1.215000	0.43411	0.448000	0.29417	GTC		0.657	EPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325323.1	NM_000799		3	61	0	0	0	0	3	61				
CUX1	1523	broad.mit.edu	37	7	101838850	101838850	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr7:101838850G>A	ENST00000292535.7	+	14	1227	c.1189G>A	c.(1189-1191)Gcc>Acc	p.A397T	CUX1_ENST00000292538.4_Missense_Mutation_p.A408T|CUX1_ENST00000550008.2_Missense_Mutation_p.A397T|CUX1_ENST00000547394.2_Missense_Mutation_p.A392T|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000425244.2_Missense_Mutation_p.A362T|CUX1_ENST00000546411.2_Missense_Mutation_p.A397T|CUX1_ENST00000393824.3_Missense_Mutation_p.A369T|SNORA48_ENST00000517015.1_RNA|CUX1_ENST00000437600.4_Missense_Mutation_p.A406T|CUX1_ENST00000360264.3_Missense_Mutation_p.A408T|CUX1_ENST00000549414.2_Missense_Mutation_p.A397T|CUX1_ENST00000556210.1_Missense_Mutation_p.A397T	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	397					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GTCCGAGAACGCCGCGCTGCG	0.682																																						uc003uyx.3		NA																	0				ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1)	8						c.(1189-1191)GCC>ACC		cut-like homeobox 1 isoform a							35.0	33.0	34.0					7																	101838850		2203	4300	6503	SO:0001583	missense	1523				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr7:101838850G>A	M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.1189G>A	7.37:g.101838850G>A	ENSP00000292535:p.Ala397Thr					CUX1_uc003uys.3_Missense_Mutation_p.A408T|CUX1_uc003uyt.2_Missense_Mutation_p.A408T|CUX1_uc011kkn.1_Missense_Mutation_p.A369T|CUX1_uc003uyw.2_Missense_Mutation_p.A362T|CUX1_uc003uyv.2_Missense_Mutation_p.A392T|CUX1_uc003uyu.2_Missense_Mutation_p.A406T	p.A397T	NM_181552	NP_853530	P39880	CUX1_HUMAN			14	1227	+			397					B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	ENST00000292535.7	37	c.1189G>A	CCDS5721.1	.	.	.	.	.	.	.	.	.	.	G	8.045	0.764687	0.15914	.	.	ENSG00000257923	ENST00000292538;ENST00000547394;ENST00000360264;ENST00000425244;ENST00000437600;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T;T;T;T;T	0.58358	1.79;1.78;0.35;1.79;1.78;0.34;0.36;0.37;0.4;0.41	5.02	4.12	0.48240	.	0.068921	0.56097	D	0.000028	T	0.23094	0.0558	N	0.10664	0.02	0.80722	D	1	B;B;P;P;B;B;B	0.37688	0.177;0.036;0.605;0.472;0.226;0.177;0.061	B;B;B;B;B;B;B	0.25614	0.01;0.008;0.06;0.062;0.018;0.009;0.017	T	0.35101	-0.9802	10	0.02654	T	1	-19.2435	13.6615	0.62370	0.076:0.0:0.924:0.0	.	369;397;362;392;406;408;408	B4DZZ2;P39880;B3KV79;G3V1Z6;Q13948-2;Q13948;P39880-3	.;CUX1_HUMAN;.;.;.;CASP_HUMAN;.	T	408;392;408;362;406;397;397;397;397;397	ENSP00000292538:A408T;ENSP00000449371:A392T;ENSP00000353401:A408T;ENSP00000409745:A362T;ENSP00000414091:A406T;ENSP00000292535:A397T;ENSP00000446630:A397T;ENSP00000447373:A397T;ENSP00000450125:A397T;ENSP00000451558:A397T	ENSP00000292535:A397T	A	+	1	0	CUX1	101625570	1.000000	0.71417	0.990000	0.47175	0.972000	0.66771	5.132000	0.64758	2.328000	0.79073	0.462000	0.41574	GCC		0.682	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347535.1	NM_001913		6	33	0	0	0	0	6	33				
FEZF1	389549	broad.mit.edu	37	7	121942917	121942917	+	Silent	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr7:121942917G>A	ENST00000442488.2	-	3	1072	c.1005C>T	c.(1003-1005)acC>acT	p.T335T	FEZF1-AS1_ENST00000437317.1_RNA|FEZF1_ENST00000331178.4_Silent_p.T331T|FEZF1_ENST00000427185.2_Silent_p.T285T|FEZF1-AS1_ENST00000428449.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	335					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CGTGTATTCGGGTATGAGTGT	0.408																																						uc003vkd.2		NA																	0				ovary(2)|breast(1)	3						c.(1003-1005)ACC>ACT		FEZ family zinc finger 1 isoform 1							119.0	118.0	119.0					7																	121942917		2203	4300	6503	SO:0001819	synonymous_variant	389549				cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:121942917G>A	AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.1005C>T	7.37:g.121942917G>A						FEZF1_uc003vkc.2_Silent_p.T285T|uc010lko.1_5'Flank	p.T335T	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN			3	1079	-			335			C2H2-type 3.		A0PJY3|A4D0W3|B4DUP9|B7ZM98	Silent	SNP	ENST00000442488.2	37	c.1005C>T	CCDS34741.2																																																																																				0.408	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347410.1	NM_001024613		26	62	0	0	0	0	26	62				
ZNF786	136051	broad.mit.edu	37	7	148777738	148777738	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr7:148777738C>G	ENST00000491431.1	-	2	154	c.90G>C	c.(88-90)caG>caC	p.Q30H	ZNF786_ENST00000316286.9_Intron|ZNF786_ENST00000451334.3_5'UTR	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	30	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(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AAAGTTCCTTCTGCCATGCCT	0.428																																						uc003wfh.2		NA																	0				breast(3)|skin(1)	4						c.(88-90)CAG>CAC		zinc finger protein 786							105.0	104.0	105.0					7																	148777738		1968	4141	6109	SO:0001583	missense	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148777738C>G	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.90G>C	7.37:g.148777738C>G	ENSP00000417470:p.Gln30His					ZNF786_uc011kuk.1_5'UTR|ZNF786_uc003wfi.2_Intron	p.Q30H	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		2	227	-	Melanoma(164;0.15)		30			KRAB.		A1A568|B4DMI1	Missense_Mutation	SNP	ENST00000491431.1	37	c.90G>C	CCDS47738.1	.	.	.	.	.	.	.	.	.	.	C	16.91	3.251632	0.59212	.	.	ENSG00000197362	ENST00000491431	T	0.09445	2.98	4.76	3.88	0.44766	Krueppel-associated box (4);	0.000000	0.36200	N	0.002734	T	0.35770	0.0943	M	0.91872	3.25	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.21895	-1.0232	10	0.87932	D	0	-34.1145	6.9306	0.24439	0.0:0.7308:0.1755:0.0937	.	30	Q8N393	ZN786_HUMAN	H	30	ENSP00000417470:Q30H	ENSP00000417470:Q30H	Q	-	3	2	ZNF786	148408671	1.000000	0.71417	1.000000	0.80357	0.817000	0.46193	1.953000	0.40352	1.373000	0.46208	0.563000	0.77884	CAG		0.428	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411		3	55	0	0	0	0	3	55				
SLC35G5	83650	broad.mit.edu	37	8	11188846	11188846	+	Silent	SNP	C	C	T	rs148317481		TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr8:11188846C>T	ENST00000382435.4	+	1	450	c.231C>T	c.(229-231)tgC>tgT	p.C77C		NM_001282300.1|NM_054028.1	NP_001269229.1|NP_473369.1	Q96KT7	S35G5_HUMAN	solute carrier family 35, member G5	77	EamA 1.					integral component of membrane (GO:0016021)											TCTGTCGATGCCTCTTCCACC	0.627																																						uc003wtp.1		NA																	0					0						c.(229-231)TGC>TGT		acyl-malonyl condensing enzyme		C		0,4406		0,0,2203	169.0	170.0	170.0		231	0.3	0.9	8	dbSNP_134	170	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLC35G5	NM_054028.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		77/339	11188846	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	83650					integral to membrane		g.chr8:11188846C>T	AJ291677	CCDS5980.1	8p23.1	2013-05-22	2011-08-03	2011-08-03	ENSG00000177710	ENSG00000177710		"""Solute carriers"""	15546	protein-coding gene	gene with protein product		615199	"""acyl-malonyl condensing enzyme 1-like 2"""	AMAC, AMAC1L2			Standard	NM_054028		Approved		uc003wtp.1	Q96KT7	OTTHUMG00000090653	ENST00000382435.4:c.231C>T	8.37:g.11188846C>T							p.C77C	NM_054028	NP_473369	Q96KT7	AMCL2_HUMAN	STAD - Stomach adenocarcinoma(15;0.00676)	COAD - Colon adenocarcinoma(149;0.0563)	1	352	+			77			DUF6 1.|Helical; (Potential).		A2RRL6	Silent	SNP	ENST00000382435.4	37	c.231C>T	CCDS5980.1																																																																																				0.627	SLC35G5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207313.2	NM_054028		29	246	0	0	0	0	29	246				
WHSC1L1	54904	broad.mit.edu	37	8	38148029	38148029	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr8:38148029C>T	ENST00000317025.8	-	17	3599	c.3082G>A	c.(3082-3084)Gaa>Aaa	p.E1028K	WHSC1L1_ENST00000433384.2_Missense_Mutation_p.E979K|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.E1028K	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	1028					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GTCTGCCCTTCAGCAAAGCTT	0.443			T	NUP98	AML																																	uc003xli.2		NA		Dom	yes		8	8p12	54904	T	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)			L	NUP98		AML		0				breast(1)	1						c.(3082-3084)GAA>AAA		WHSC1L1 protein isoform long							205.0	195.0	198.0					8																	38148029		1888	4110	5998	SO:0001583	missense	54904				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding	g.chr8:38148029C>T	AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.3082G>A	8.37:g.38148029C>T	ENSP00000313983:p.Glu1028Lys					WHSC1L1_uc011lbm.1_Missense_Mutation_p.E1028K|WHSC1L1_uc010lwe.2_Missense_Mutation_p.E979K	p.E1028K	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)		17	3600	-	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	1028					B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	ENST00000317025.8	37	c.3082G>A	CCDS43729.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.628833	0.67015	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502	T;T;T	0.70516	-0.49;-0.49;-0.49	5.92	5.92	0.95590	.	0.130250	0.33916	U	0.004440	T	0.64962	0.2646	L	0.31294	0.92	0.80722	D	1	B;B;B	0.25048	0.117;0.096;0.117	B;B;B	0.30716	0.119;0.073;0.119	T	0.57562	-0.7790	10	0.29301	T	0.29	.	20.3343	0.98733	0.0:1.0:0.0:0.0	.	1028;979;1028	B7ZL11;Q9BZ95-2;Q9BZ95	.;.;NSD3_HUMAN	K	979;1028;965;1028	ENSP00000393284:E979K;ENSP00000313983:E1028K;ENSP00000434730:E1028K	ENSP00000313983:E1028K	E	-	1	0	WHSC1L1	38267186	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.938000	0.70170	2.822000	0.97130	0.650000	0.86243	GAA		0.443	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381924.3	NM_023034		8	171	0	0	0	0	8	171				
ZFHX4	79776	broad.mit.edu	37	8	77618162	77618162	+	Silent	SNP	C	C	T	rs371449494		TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr8:77618162C>T	ENST00000521891.2	+	2	2287	c.1839C>T	c.(1837-1839)atC>atT	p.I613I	ZFHX4_ENST00000518282.1_Silent_p.I613I|ZFHX4_ENST00000455469.2_Silent_p.I613I|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Silent_p.I613I	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	613					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCAGTGGCATCGAGTGTCCAA	0.557										HNSCC(33;0.089)																												uc003yav.2		NA																	0				ovary(8)|large_intestine(4)|breast(2)|lung(1)	15						c.(1837-1839)ATC>ATT		zinc finger homeodomain 4							79.0	85.0	83.0					8																	77618162		2082	4205	6287	SO:0001819	synonymous_variant	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77618162C>T		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.1839C>T	8.37:g.77618162C>T		HNSCC(33;0.089)				ZFHX4_uc003yat.1_Silent_p.I613I|ZFHX4_uc003yau.1_Silent_p.I613I|ZFHX4_uc003yaw.1_Silent_p.I613I	p.I613I	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		2	2226	+			613			C2H2-type 1.		G3V138|Q18PS0|Q6ZN20	Silent	SNP	ENST00000521891.2	37	c.1839C>T	CCDS47878.2																																																																																				0.557	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		6	80	0	0	0	0	6	80				
KIAA1429	25962	broad.mit.edu	37	8	95547110	95547110	+	Silent	SNP	T	T	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr8:95547110T>G	ENST00000297591.5	-	5	516	c.441A>C	c.(439-441)ccA>ccC	p.P147P	RP11-267M23.3_ENST00000521010.1_RNA|KIAA1429_ENST00000437199.1_Silent_p.P147P|KIAA1429_ENST00000421249.2_Silent_p.P147P	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	147	Pro-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GCTGGGGAggtggtggcggtg	0.428																																						uc003ygo.1		NA																	0				ovary(1)|skin(1)	2						c.(439-441)CCA>CCC		hypothetical protein LOC25962 isoform 1							63.0	60.0	61.0					8																	95547110		2203	4300	6503	SO:0001819	synonymous_variant	25962				mRNA processing|RNA splicing	nucleus		g.chr8:95547110T>G	AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.441A>C	8.37:g.95547110T>G						KIAA1429_uc003ygp.2_Silent_p.P147P	p.P147P	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00185)		5	454	-	Breast(36;3.29e-05)		147			Pro-rich.		Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Silent	SNP	ENST00000297591.5	37	c.441A>C	CCDS34923.1																																																																																				0.428	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496		5	31	0	0	0	0	5	31				
VPS13B	157680	broad.mit.edu	37	8	100832288	100832288	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr8:100832288G>C	ENST00000358544.2	+	49	9118	c.9007G>C	c.(9007-9009)Gaa>Caa	p.E3003Q	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.E2978Q	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3003					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTGGCTATTTGAAGGAGAGAA	0.378																																					Colon(161;2205 2542 7338 31318)	uc003yiv.2		NA																	0				ovary(7)|skin(4)|lung(3)|central_nervous_system(2)|pancreas(2)|breast(1)|kidney(1)	20						c.(9007-9009)GAA>CAA		vacuolar protein sorting 13B isoform 5							109.0	116.0	114.0					8																	100832288		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100832288G>C	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.9007G>C	8.37:g.100832288G>C	ENSP00000351346:p.Glu3003Gln					VPS13B_uc003yiw.2_Missense_Mutation_p.E2978Q	p.E3003Q	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		49	9118	+	Breast(36;3.73e-07)		3003					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.9007G>C	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374977	0.82573	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.79554	-1.28;-1.28	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.85292	0.5663	L	0.32530	0.975	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.988;0.994	T	0.81994	-0.0677	10	0.28530	T	0.3	.	20.3081	0.98638	0.0:0.0:1.0:0.0	.	2978;3003	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	Q	2978;3003	ENSP00000349685:E2978Q;ENSP00000351346:E3003Q	ENSP00000349685:E2978Q	E	+	1	0	VPS13B	100901464	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.795000	0.96236	0.655000	0.94253	GAA		0.378	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		4	105	0	0	0	0	4	105				
TATDN1	83940	broad.mit.edu	37	8	125498991	125498991	+	IGR	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr8:125498991C>T	ENST00000276692.6	-	0	1018				RNF139_ENST00000303545.3_Silent_p.I367I|RP11-158K1.3_ENST00000518639.1_RNA	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1						DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TGCATTTTATCCATGGAATGA	0.423																																						uc003yrc.2		NA																	0				kidney(1)	1						c.(1099-1101)ATC>ATT		ring finger protein 139							312.0	304.0	307.0					8																	125498991		2203	4300	6503	SO:0001628	intergenic_variant	11236	Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3			negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr8:125498991C>T	AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068		8.37:g.125498991C>T							p.I367I	NM_007218	NP_009149	Q8WU17	RN139_HUMAN	STAD - Stomach adenocarcinoma(47;0.00288)		2	1444	+	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		367			Helical; (Potential).		B2R5J0|Q8TD02|Q9BY40	Silent	SNP	ENST00000276692.6	37	c.1101C>T	CCDS6351.1																																																																																				0.423	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1	NM_032026		19	202	0	0	0	0	19	202				
BAI1	575	broad.mit.edu	37	8	143569790	143569790	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr8:143569790C>T	ENST00000517894.1	+	14	3268	c.2374C>T	c.(2374-2376)Cgg>Tgg	p.R792W	BAI1_ENST00000323289.5_Missense_Mutation_p.R792W			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	792					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GAAGGGCTGGCGGGCCACGGG	0.632																																						uc003ywm.2		NA																	0				lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|pancreas(1)	8						c.(2374-2376)CGG>TGG		brain-specific angiogenesis inhibitor 1							68.0	78.0	75.0					8																	143569790		2039	4190	6229	SO:0001583	missense	575				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding	g.chr8:143569790C>T	AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.2374C>T	8.37:g.143569790C>T	ENSP00000430945:p.Arg792Trp						p.R792W	NM_001702	NP_001693	O14514	BAI1_HUMAN			13	2557	+	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)		792			Extracellular (Potential).			Missense_Mutation	SNP	ENST00000517894.1	37	c.2374C>T		.	.	.	.	.	.	.	.	.	.	C	17.56	3.419482	0.62622	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.28666	1.6;1.6	4.65	1.7	0.24286	.	0.070341	0.53938	U	0.000049	T	0.44767	0.1309	L	0.61218	1.895	0.50632	D	0.999889	D	0.89917	1.0	D	0.65987	0.94	T	0.28839	-1.0031	10	0.87932	D	0	.	7.1912	0.25826	0.5489:0.3668:0.0:0.0842	.	792	E9PBK0	.	W	792	ENSP00000430945:R792W;ENSP00000313046:R792W	ENSP00000313046:R792W	R	+	1	2	BAI1	143566792	1.000000	0.71417	0.998000	0.56505	0.969000	0.65631	0.764000	0.26532	0.107000	0.17824	0.313000	0.20887	CGG		0.632	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000379963.3	NM_001702		5	119	0	0	0	0	5	119				
TESK1	7016	broad.mit.edu	37	9	35609464	35609464	+	Silent	SNP	C	C	A	rs142237307	byFrequency	TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr9:35609464C>A	ENST00000336395.5	+	10	1856	c.1606C>A	c.(1606-1608)Cgg>Agg	p.R536R	CD72_ENST00000490239.1_5'Flank|MIR4667_ENST00000578933.1_RNA|TESK1_ENST00000498522.1_3'UTR	NM_006285.2	NP_006276.2	Q15569	TESK1_HUMAN	testis-specific kinase 1	536					cell junction assembly (GO:0034329)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCCCTGGAACCGGGCCCAGCA	0.687																																						uc003zxa.2		NA																	0				stomach(2)|breast(2)|lung(1)|ovary(1)|skin(1)	7						c.(1606-1608)CGG>AGG		testis-specific protein kinase 1							18.0	21.0	20.0					9																	35609464		2146	4257	6403	SO:0001819	synonymous_variant	7016				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr9:35609464C>A	D50863	CCDS6580.1	9p13	2010-04-27			ENSG00000107140	ENSG00000107140	2.7.12.1		11731	protein-coding gene	gene with protein product	"""testis-specific kinase-1"", ""testis specific kinase-1"""	601782				8537404	Standard	NM_006285		Approved		uc003zxa.3	Q15569	OTTHUMG00000019863	ENST00000336395.5:c.1606C>A	9.37:g.35609464C>A						TESK1_uc003zwz.1_RNA|TESK1_uc010mks.2_Silent_p.R376R	p.R536R	NM_006285	NP_006276	Q15569	TESK1_HUMAN	Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		10	1942	+			536					Q8IXZ8	Silent	SNP	ENST00000336395.5	37	c.1606C>A	CCDS6580.1																																																																																				0.687	TESK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052314.1	NM_006285		18	28	1	0	1.68e-08	1.97e-08	18	28				
TRPM3	80036	broad.mit.edu	37	9	73164531	73164531	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr9:73164531C>G	ENST00000377111.2	-	24	3841	c.3598G>C	c.(3598-3600)Gaa>Caa	p.E1200Q	TRPM3_ENST00000358082.3_Missense_Mutation_p.E1062Q|TRPM3_ENST00000396280.5_Missense_Mutation_p.E1049Q|TRPM3_ENST00000360823.2_Missense_Mutation_p.E1062Q|TRPM3_ENST00000377110.3_Missense_Mutation_p.E1200Q|TRPM3_ENST00000357533.2_Missense_Mutation_p.E1204Q|TRPM3_ENST00000423814.3_Missense_Mutation_p.E1227Q|TRPM3_ENST00000377105.1_Missense_Mutation_p.E1059Q|TRPM3_ENST00000408909.2_Missense_Mutation_p.E1059Q|TRPM3_ENST00000396285.1_Missense_Mutation_p.E1059Q|TRPM3_ENST00000396292.4_Missense_Mutation_p.E1072Q|TRPM3_ENST00000377106.1_Missense_Mutation_p.E1072Q	NM_001007471.2	NP_001007472.2	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	1225					calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|sensory perception of temperature stimulus (GO:0050951)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AAGTATTCTTCTATGCATTGC	0.413																																						uc004aid.2		NA																	0				ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2)	9						c.(3598-3600)GAA>CAA		transient receptor potential cation channel,							164.0	132.0	143.0					9																	73164531		2203	4300	6503	SO:0001583	missense	80036					integral to membrane	calcium channel activity	g.chr9:73164531C>G	AB046836	CCDS6634.1, CCDS6635.1, CCDS6636.1, CCDS6637.1, CCDS43835.1, CCDS65064.1	9q21.11	2011-12-14			ENSG00000083067	ENSG00000083067		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17992	protein-coding gene	gene with protein product	"""melastatin 2"""	608961				16382100	Standard	NM_206946		Approved	KIAA1616, LTRPC3, GON-2	uc004aid.3	Q9HCF6	OTTHUMG00000019997	ENST00000377111.2:c.3598G>C	9.37:g.73164531C>G	ENSP00000366315:p.Glu1200Gln					TRPM3_uc004ahu.2_Missense_Mutation_p.E1042Q|TRPM3_uc004ahv.2_Missense_Mutation_p.E1002Q|TRPM3_uc004ahw.2_Missense_Mutation_p.E1072Q|TRPM3_uc004ahx.2_Missense_Mutation_p.E1059Q|TRPM3_uc004ahy.2_Missense_Mutation_p.E1062Q|TRPM3_uc004ahz.2_Missense_Mutation_p.E1049Q|TRPM3_uc004aia.2_Missense_Mutation_p.E1047Q|TRPM3_uc004aib.2_Missense_Mutation_p.E1037Q|TRPM3_uc004aic.2_Missense_Mutation_p.E1200Q	p.E1200Q	NM_001007471	NP_001007472	Q9HCF6	TRPM3_HUMAN			24	3842	-			1225			Cytoplasmic (Potential).		A2A3F6|A9Z1Y7|Q5VW02|Q5VW03|Q5VW04|Q5W5T7|Q86SH0|Q86SH6|Q86UL0|Q86WK1|Q86WK2|Q86WK3|Q86WK4|Q86YZ9|Q86Z00|Q86Z01|Q9H0X2	Missense_Mutation	SNP	ENST00000377111.2	37	c.3598G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.6|26.6	4.748872|4.748872	0.89753|0.89753	.|.	.|.	ENSG00000083067|ENSG00000083067	ENST00000377111;ENST00000377110;ENST00000377106;ENST00000360823;ENST00000377105;ENST00000357533;ENST00000408909;ENST00000396285;ENST00000396292;ENST00000358082;ENST00000423814|ENST00000396280	T;T;T;T;T;T;T;T;T;T;T|.	0.39997|.	1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05|.	6.05|6.05	6.05|6.05	0.98169|0.98169	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.78477|0.78477	0.4289|0.4289	M|M	0.76574|0.76574	2.34|2.34	0.54753|0.54753	D|D	0.999986|0.999986	P;D;P;P;P;P;D;P|.	0.54047|.	0.918;0.964;0.569;0.866;0.866;0.909;0.958;0.949|.	P;P;B;P;P;P;P;P|.	0.61201|.	0.835;0.885;0.327;0.566;0.566;0.61;0.835;0.607|.	T|T	0.75795|0.75795	-0.3192|-0.3192	10|5	0.49607|.	T|.	0.09|.	-25.98|-25.98	20.6013|20.6013	0.99457|0.99457	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1200;1200;1190;1204;1062;1059;1172;1059|.	Q9HCF6-2;Q9HCF6-10;Q9HCF6-4;A2A3F7;A2A3F4;G5E9G1;Q9HCF6-8;A2A3F3|.	.;.;.;.;.;.;.;.|.	Q|T	1200;1200;1072;1062;1059;1204;1059;1059;1072;1062;1227|1048	ENSP00000366315:E1200Q;ENSP00000366314:E1200Q;ENSP00000366310:E1072Q;ENSP00000354066:E1062Q;ENSP00000366309:E1059Q;ENSP00000350140:E1204Q;ENSP00000386127:E1059Q;ENSP00000379581:E1059Q;ENSP00000379587:E1072Q;ENSP00000350791:E1062Q;ENSP00000389542:E1227Q|.	ENSP00000350140:E1204Q|.	E|R	-|-	1|2	0|0	TRPM3|TRPM3	72354351|72354351	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.487000|7.487000	0.81328|0.81328	2.878000|2.878000	0.98634|0.98634	0.650000|0.650000	0.86243|0.86243	GAA|AGA		0.413	TRPM3-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000214157.5	NM_206945		3	71	0	0	0	0	3	71				
SURF1	6834	broad.mit.edu	37	9	136220669	136220669	+	Silent	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr9:136220669G>A	ENST00000371974.3	-	5	481	c.450C>T	c.(448-450)ggC>ggT	p.G150G	SNORD36C_ENST00000516733.1_RNA|SURF1_ENST00000495952.1_5'UTR|SURF2_ENST00000371964.4_5'Flank	NM_001280787.1|NM_003172.2	NP_001267716.1|NP_003163.1	Q15526	SURF1_HUMAN	surfeit 1	150					aerobic respiration (GO:0009060)|ATP biosynthetic process (GO:0006754)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory chain complex IV assembly (GO:0008535)	integral component of membrane (GO:0016021)|mitochondrial respiratory chain (GO:0005746)	cytochrome-c oxidase activity (GO:0004129)			breast(2)|endometrium(1)|ovary(2)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;5.06e-07)|Epithelial(140;4.25e-06)|all cancers(34;3.93e-05)		AGGAGATGAGGCCGCCCTCCC	0.617																																						uc004cdh.1		NA																	0				breast(2)	2						c.(448-450)GGC>GGT		surfeit 1							112.0	123.0	119.0					9																	136220669		2203	4300	6503	SO:0001819	synonymous_variant	6834				aerobic respiration|respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity	g.chr9:136220669G>A		CCDS6966.1, CCDS75928.1	9q33-q34	2012-10-12			ENSG00000148290	ENSG00000148290		"""Mitochondrial respiratory chain complex assembly factors"""	11474	protein-coding gene	gene with protein product	"""surfeit locus protein 1"""	185620				8499913, 9843204	Standard	NM_003172		Approved		uc004cdh.1	Q15526	OTTHUMG00000020866	ENST00000371974.3:c.450C>T	9.37:g.136220669G>A						SURF1_uc004cdg.1_Silent_p.G41G|SURF2_uc004cdi.2_5'Flank	p.G150G	NM_003172	NP_003163	Q15526	SURF1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.06e-07)|Epithelial(140;4.25e-06)|all cancers(34;3.93e-05)	5	482	-			150					Q5T8T3|Q5T8T4	Silent	SNP	ENST00000371974.3	37	c.450C>T	CCDS6966.1																																																																																				0.617	SURF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054879.1	NM_003172		8	176	0	0	0	0	8	176				
NOTCH1	4851	broad.mit.edu	37	9	139399790	139399790	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr9:139399790C>G	ENST00000277541.6	-	25	4633	c.4558G>C	c.(4558-4560)Gac>Cac	p.D1520H		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1520					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)			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)		CGCTGGCAGTCAAAGCCGTCG	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		0				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.(4558-4560)GAC>CAC		notch1 preproprotein							18.0	22.0	21.0					9																	139399790		2128	4244	6372	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.chr9:139399790C>G	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.4558G>C	9.37:g.139399790C>G	ENSP00000277541:p.Asp1520His	HNSCC(8;0.001)				NOTCH1_uc004cia.1_Missense_Mutation_p.D750H	p.D1520H	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	25	4558	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1520			Extracellular (Potential).|LNR 2.		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.4558G>C	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.403561	0.62288	.	.	ENSG00000148400	ENST00000277541	D	0.82433	-1.61	4.08	4.08	0.47627	Notch domain (5);	0.000000	0.85682	U	0.000000	D	0.92140	0.7508	M	0.90082	3.085	0.80722	D	1	D	0.76494	0.999	D	0.76071	0.987	D	0.93656	0.6977	10	0.59425	D	0.04	.	15.2556	0.73582	0.0:1.0:0.0:0.0	.	1520	P46531	NOTC1_HUMAN	H	1520	ENSP00000277541:D1520H	ENSP00000277541:D1520H	D	-	1	0	NOTCH1	138519611	1.000000	0.71417	1.000000	0.80357	0.637000	0.38172	7.439000	0.80444	1.814000	0.52955	0.579000	0.79373	GAC		0.627	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		2	6	0	0	0	0	2	6				
NOTCH1	4851	broad.mit.edu	37	9	139412284	139412284	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr9:139412284T>G	ENST00000277541.6	-	8	1436	c.1361A>C	c.(1360-1362)aAc>aCc	p.N454T	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	454	EGF-like 12; 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.N454delN(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)		GACGCACTCGTTGACGTCGAT	0.657			"""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	Deletion - In frame(2)		central_nervous_system(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.(1360-1362)AAC>ACC		notch1 preproprotein							57.0	63.0	61.0					9																	139412284		2174	4263	6437	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.chr9:139412284T>G	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.1361A>C	9.37:g.139412284T>G	ENSP00000277541:p.Asn454Thr	HNSCC(8;0.001)					p.N454T	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	8	1361	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	454			Extracellular (Potential).|EGF-like 12; calcium-binding (Potential).		Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	c.1361A>C	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	T	22.5	4.300371	0.81136	.	.	ENSG00000148400	ENST00000277541	D	0.93859	-3.3	4.57	4.57	0.56435	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	0.96491	0.8855	M	0.84156	2.68	0.80722	D	1	D	0.76494	0.999	D	0.91635	0.999	D	0.96907	0.9664	10	0.72032	D	0.01	.	13.105	0.59241	0.0:0.0:0.0:1.0	.	454	P46531	NOTC1_HUMAN	T	454	ENSP00000277541:N454T	ENSP00000277541:N454T	N	-	2	0	NOTCH1	138532105	1.000000	0.71417	0.987000	0.45799	0.769000	0.43574	6.066000	0.71185	1.696000	0.51158	0.379000	0.24179	AAC		0.657	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		11	84	0	0	0	0	11	84				
CACNA1B	774	broad.mit.edu	37	9	140991032	140991032	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr9:140991032C>T	ENST00000371372.1	+	37	5336	c.5191C>T	c.(5191-5193)Cgg>Tgg	p.R1731W	CACNA1B_ENST00000371365.2_Missense_Mutation_p.R95W|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R1730W|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R1729W|CACNA1B_ENST00000277549.5_Missense_Mutation_p.R925W|CACNA1B_ENST00000277551.2_Missense_Mutation_p.R1731W|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R1732W	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1731	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	TGAGTTCATCCGGGTCTGGGC	0.562																																						uc004cog.2		NA																	0				breast(3)|large_intestine(2)|ovary(1)	6						c.(5191-5193)CGG>TGG		calcium channel, voltage-dependent, N type,	Amlodipine(DB00381)|Gabapentin(DB00996)						105.0	103.0	104.0					9																	140991032		2107	4245	6352	SO:0001583	missense	774				membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	g.chr9:140991032C>T	AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.5191C>T	9.37:g.140991032C>T	ENSP00000360423:p.Arg1731Trp					CACNA1B_uc004coi.2_Missense_Mutation_p.R943W|CACNA1B_uc004cok.1_RNA|CACNA1B_uc010ncp.1_Intron	p.R1731W	NM_000718	NP_000709	Q00975	CAC1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	36	5336	+	all_cancers(76;0.166)		1731			EF-hand.|Cytoplasmic (Potential).		B1AQK5	Missense_Mutation	SNP	ENST00000371372.1	37	c.5191C>T	CCDS59522.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.7|21.7	4.181324|4.181324	0.78677|0.78677	.|.	.|.	ENSG00000148408|ENSG00000148408	ENST00000413253|ENST00000371372;ENST00000277551;ENST00000277549;ENST00000371363;ENST00000371357;ENST00000371355;ENST00000371365	.|D;D;D;D;D;D;D	.|0.97710	.|-4.26;-4.26;-4.5;-4.25;-4.24;-4.24;-4.39	4.44|4.44	3.52|3.52	0.40303|0.40303	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98773|0.98773	0.9587|0.9587	M|M	0.91196|0.91196	3.185|3.185	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.99327|0.99327	1.0908|1.0908	5|10	.|0.87932	.|D	.|0	.|.	11.8943|11.8943	0.52648|0.52648	0.3169:0.6831:0.0:0.0|0.3169:0.6831:0.0:0.0	.|.	.|1730;1729	.|B1AQK7;B1AQK6	.|.;.	L|W	95|1731;1731;925;1729;1730;1732;95	.|ENSP00000360423:R1731W;ENSP00000277551:R1731W;ENSP00000277549:R925W;ENSP00000360414:R1729W;ENSP00000360408:R1730W;ENSP00000360406:R1732W;ENSP00000360416:R95W	.|ENSP00000277549:R925W	P|R	+|+	2|1	0|2	CACNA1B|CACNA1B	140110853|140110853	0.985000|0.985000	0.35326|0.35326	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.325000|2.325000	0.43840|0.43840	0.967000|0.967000	0.38186|0.38186	0.557000|0.557000	0.71058|0.71058	CCG|CGG		0.562	CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718		37	47	0	0	0	0	37	47				
RBBP7	5931	broad.mit.edu	37	X	16863980	16863980	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:16863980C>G	ENST00000380087.2	-	11	1540	c.1180G>C	c.(1180-1182)Gag>Cag	p.E394Q	RBBP7_ENST00000380084.4_Missense_Mutation_p.E438Q|RBBP7_ENST00000404022.1_Missense_Mutation_p.E385Q			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	394					cell proliferation (GO:0008283)|cellular heat acclimation (GO:0070370)|CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleosome assembly (GO:0006334)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	RNA binding (GO:0003723)			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					ATGTTATCCTCAGACACTGAG	0.353																																						uc004cxt.2		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(1180-1182)GAG>CAG		retinoblastoma binding protein 7							84.0	75.0	78.0					X																	16863980		2203	4300	6503	SO:0001583	missense	5931				cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding	g.chrX:16863980C>G	U35143	CCDS14179.1, CCDS56598.1	Xp22.22	2013-01-10	2001-11-28		ENSG00000102054	ENSG00000102054		"""WD repeat domain containing"""	9890	protein-coding gene	gene with protein product	"""G1/S transition control protein-binding protein RbAp46"", ""retinoblastoma-binding protein 7"", ""retinoblastoma-binding protein RbAp46"", ""histone acetyltransferase type B subunit 2"", ""retinoblastoma-binding protein p46"""	300825	"""retinoblastoma-binding protein 7"""			7503932	Standard	NM_002893		Approved	RbAp46	uc004cxs.2	Q16576	OTTHUMG00000021198	ENST00000380087.2:c.1180G>C	X.37:g.16863980C>G	ENSP00000369427:p.Glu394Gln					RBBP7_uc004cxs.1_Missense_Mutation_p.E438Q|RBBP7_uc004cxu.2_Missense_Mutation_p.E385Q	p.E394Q	NM_002893	NP_002884	Q16576	RBBP7_HUMAN			11	1538	-	Hepatocellular(33;0.0997)		394			WD 7.		Q5JP00	Missense_Mutation	SNP	ENST00000380087.2	37	c.1180G>C	CCDS14179.1	.	.	.	.	.	.	.	.	.	.	C	23.9	4.470560	0.84533	.	.	ENSG00000102054	ENST00000425696;ENST00000380087;ENST00000380084;ENST00000404022	T;T;T;T	0.60672	0.17;0.17;0.17;0.17	5.33	3.52	0.40303	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.78528	0.4297	M	0.92459	3.31	0.58432	D	0.999992	P;D;P	0.76494	0.777;0.999;0.736	P;D;P	0.76071	0.567;0.987;0.519	T	0.79342	-0.1843	10	0.87932	D	0	-24.3279	8.9372	0.35706	0.1476:0.773:0.0:0.0793	.	385;394;438	E9PC52;Q16576;Q5JP00	.;RBBP7_HUMAN;.	Q	54;394;438;385	ENSP00000415747:E54Q;ENSP00000369427:E394Q;ENSP00000369424:E438Q;ENSP00000386068:E385Q	ENSP00000369424:E438Q	E	-	1	0	RBBP7	16773901	1.000000	0.71417	0.996000	0.52242	0.999000	0.98932	7.718000	0.84743	0.521000	0.28445	0.600000	0.82982	GAG		0.353	RBBP7-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055920.2	NM_002893		4	45	0	0	0	0	4	45				
RAI2	10742	broad.mit.edu	37	X	17819471	17819471	+	Silent	SNP	G	G	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:17819471G>T	ENST00000545871.1	-	3	1120	c.660C>A	c.(658-660)ccC>ccA	p.P220P	RAI2_ENST00000331511.1_Silent_p.P220P|RAI2_ENST00000360011.1_Silent_p.P220P|RAI2_ENST00000415486.3_Silent_p.P170P|RAI2_ENST00000451717.1_Silent_p.P220P	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	220	Pro-rich.				embryo development (GO:0009790)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GGGGGGACAAGGGGGAGCTAA	0.632																																						uc004cyf.2		NA																	0				ovary(1)|breast(1)	2						c.(658-660)CCC>CCA		retinoic acid induced 2							26.0	28.0	27.0					X																	17819471		2202	4297	6499	SO:0001819	synonymous_variant	10742				embryo development			g.chrX:17819471G>T	Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.660C>A	X.37:g.17819471G>T						RAI2_uc004cyg.2_Silent_p.P220P|RAI2_uc010nfa.2_Silent_p.P220P|RAI2_uc004cyh.3_Silent_p.P220P|RAI2_uc011miy.1_Silent_p.P170P	p.P220P	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN			3	1230	-	Hepatocellular(33;0.183)		220			Pro-rich.		B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Silent	SNP	ENST00000545871.1	37	c.660C>A	CCDS14183.1																																																																																				0.632	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055937.1	NM_021785		24	35	1	0	6.45e-10	7.57e-10	24	35				
FAM47B	170062	broad.mit.edu	37	X	34961653	34961653	+	Silent	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:34961653C>T	ENST00000329357.5	+	1	741	c.705C>T	c.(703-705)ctC>ctT	p.L235L		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	235	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TGTCCAGTCTCCACCCGGAAC	0.637																																						uc004ddi.1		NA																	0				ovary(3)|breast(1)	4						c.(703-705)CTC>CTT		hypothetical protein LOC170062							50.0	49.0	49.0					X																	34961653		2202	4300	6502	SO:0001819	synonymous_variant	170062							g.chrX:34961653C>T	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.705C>T	X.37:g.34961653C>T							p.L235L	NM_152631	NP_689844	Q8NA70	FA47B_HUMAN			1	723	+			235			Pro-rich.		Q5JQN5|Q6PIG3	Silent	SNP	ENST00000329357.5	37	c.705C>T	CCDS14236.1																																																																																				0.637	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1	NM_152631		6	105	0	0	0	0	6	105				
OGT	8473	broad.mit.edu	37	X	70787880	70787880	+	Silent	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:70787880C>T	ENST00000373719.3	+	21	3097	c.2880C>T	c.(2878-2880)ctC>ctT	p.L960L	OGT_ENST00000373701.3_Silent_p.L950L	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	960					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CATCCCAGCTCACTTGCTTAG	0.383																																						uc004eaa.1		NA																	0				ovary(3)|kidney(1)|pancreas(1)	5						c.(2878-2880)CTC>CTT		O-linked GlcNAc transferase isoform 1							204.0	169.0	181.0					X																	70787880		2203	4300	6503	SO:0001819	synonymous_variant	8473				cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	g.chrX:70787880C>T	U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.2880C>T	X.37:g.70787880C>T						BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.1_Silent_p.L950L|OGT_uc004eac.2_Silent_p.L821L|OGT_uc004ead.2_Silent_p.L579L	p.L960L	NM_181672	NP_858058	O15294	OGT1_HUMAN			21	3097	+	Renal(35;0.156)		960					Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Silent	SNP	ENST00000373719.3	37	c.2880C>T	CCDS14414.1																																																																																				0.383	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672		16	110	0	0	0	0	16	110				
HDX	139324	broad.mit.edu	37	X	83723803	83723803	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:83723803C>T	ENST00000297977.5	-	3	1039	c.928G>A	c.(928-930)Gag>Aag	p.E310K	HDX_ENST00000373177.2_Missense_Mutation_p.E310K|HDX_ENST00000506585.2_Missense_Mutation_p.E252K	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	310						nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AGCTCTTCCTCTCTGGCATAT	0.473																																					Pancreas(53;231 1169 36156 43751 51139)	uc004eek.1		NA																	0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(928-930)GAG>AAG		highly divergent homeobox							105.0	88.0	93.0					X																	83723803		2203	4300	6503	SO:0001583	missense	139324					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:83723803C>T	BX538112	CCDS35342.1, CCDS55456.1	Xq21.1	2012-03-09	2007-07-13	2007-07-13	ENSG00000165259	ENSG00000165259		"""Homeoboxes / POU class"""	26411	protein-coding gene	gene with protein product			"""chromosome X open reading frame 43"""	CXorf43			Standard	NM_144657		Approved	FLJ30678	uc004eek.2	Q7Z353	OTTHUMG00000021926	ENST00000297977.5:c.928G>A	X.37:g.83723803C>T	ENSP00000297977:p.Glu310Lys					HDX_uc011mqv.1_Missense_Mutation_p.E310K|HDX_uc004eel.1_Missense_Mutation_p.E252K	p.E310K	NM_144657	NP_653258	Q7Z353	HDX_HUMAN			3	1037	-			310					A8K1Y5|B7ZL18|Q5JZB4|Q96NK7	Missense_Mutation	SNP	ENST00000297977.5	37	c.928G>A	CCDS35342.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003333	0.74932	.	.	ENSG00000165259	ENST00000297977;ENST00000373177;ENST00000506585	T;T;T	0.59906	0.43;0.23;0.43	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.73729	0.3624	L	0.59436	1.845	0.58432	D	0.999995	D	0.69078	0.997	D	0.75020	0.985	T	0.76517	-0.2930	10	0.87932	D	0	-23.4533	18.2895	0.90124	0.0:1.0:0.0:0.0	.	310	Q7Z353	HDX_HUMAN	K	310;252;310	ENSP00000297977:E310K;ENSP00000362272:E252K;ENSP00000423670:E310K	ENSP00000297977:E310K	E	-	1	0	HDX	83610459	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	6.787000	0.75099	2.258000	0.74832	0.422000	0.28245	GAG		0.473	HDX-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057379.2	NM_144657		16	80	0	0	0	0	16	80				
GLA	2717	broad.mit.edu	37	X	100662806	100662806	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:100662806G>A	ENST00000218516.3	-	1	107	c.86C>T	c.(85-87)gCt>gTt	p.A29V	RPL36A-HNRNPH2_ENST00000409170.3_Intron|GLA_ENST00000479445.1_5'UTR|HNRNPH2_ENST00000316594.5_5'Flank	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	29					glycoside catabolic process (GO:0016139)|glycosphingolipid catabolic process (GO:0046479)|glycosphingolipid metabolic process (GO:0006687)|glycosylceramide catabolic process (GO:0046477)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric-oxide synthase activity (GO:0051001)|oligosaccharide metabolic process (GO:0009311)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)	alpha-galactosidase activity (GO:0004557)|catalytic activity (GO:0003824)|galactoside binding (GO:0016936)|hydrolase activity (GO:0016787)|protein homodimerization activity (GO:0042803)|raffinose alpha-galactosidase activity (GO:0052692)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CAGTGCTCTAGCCCCAGGGAT	0.602																																					Colon(193;776 2816 31189 44474)	uc004ehl.1		NA																	0					0	GRCh37	CI012562	GLA	I		c.(85-87)GCT>GTT		alpha-galactosidase A precursor	Agalsidase beta(DB00103)						97.0	95.0	96.0					X																	100662806		2203	4300	6503	SO:0001583	missense	2717				glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding	g.chrX:100662806G>A	X16889	CCDS14484.1	Xq21.3-q22	2014-09-17			ENSG00000102393	ENSG00000102393	3.2.1.22		4296	protein-coding gene	gene with protein product		300644					Standard	NM_000169		Approved	GALA	uc004ehl.1	P06280	OTTHUMG00000022026	ENST00000218516.3:c.86C>T	X.37:g.100662806G>A	ENSP00000218516:p.Ala29Val					HNRNPH2_uc004ehm.2_5'Flank|HNRNPH2_uc004ehn.2_5'Flank|GLA_uc011mrj.1_Missense_Mutation_p.A29V	p.A29V	NM_000169	NP_000160	P06280	AGAL_HUMAN			1	196	-			29					Q6LER7	Missense_Mutation	SNP	ENST00000218516.3	37	c.86C>T	CCDS14484.1	.	.	.	.	.	.	.	.	.	.	G	7.838	0.721317	0.15372	.	.	ENSG00000102393	ENST00000218516	D	0.99948	-8.67	5.5	-0.501	0.12008	.	0.312431	0.39146	N	0.001451	D	0.99563	0.9843	.	.	.	0.09310	N	1	B;B	0.13145	0.002;0.007	B;B	0.11329	0.006;0.005	D	0.99999	1.7993	8	.	.	.	-0.2043	10.6921	0.45877	0.3981:0.0:0.6019:0.0	.	29;29	B4DLT5;P06280	.;AGAL_HUMAN	V	29	ENSP00000218516:A29V	.	A	-	2	0	GLA	100549462	0.007000	0.16637	0.000000	0.03702	0.019000	0.09904	0.851000	0.27751	-0.173000	0.10761	0.597000	0.82753	GCT		0.602	GLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057540.1			5	137	0	0	0	0	5	137				
CUL4B	8450	broad.mit.edu	37	X	119660660	119660660	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:119660660C>T	ENST00000404115.3	-	22	3099	c.2698G>A	c.(2698-2700)Gaa>Aaa	p.E900K	CUL4B_ENST00000371322.5_Missense_Mutation_p.E882K|CUL4B_ENST00000336592.6_Missense_Mutation_p.E887K	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	900					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTATCTCTTTCCATGTAGTCC	0.373																																						uc004esw.2		NA																	0				lung(1)|central_nervous_system(1)|pancreas(1)	3						c.(2698-2700)GAA>AAA		cullin 4B isoform 1							259.0	209.0	226.0					X																	119660660		2203	4300	6503	SO:0001583	missense	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119660660C>T	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.2698G>A	X.37:g.119660660C>T	ENSP00000384109:p.Glu900Lys					CUL4B_uc010nqq.2_Missense_Mutation_p.E601K|CUL4B_uc004esv.2_Missense_Mutation_p.E882K	p.E900K	NM_003588	NP_003579	Q13620	CUL4B_HUMAN			22	3135	-			900					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	c.2698G>A	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.937638	0.73557	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.70986	-0.53;-0.53;-0.53	5.66	4.8	0.61643	Cullin protein, neddylation domain (2);Winged helix-turn-helix transcription repressor DNA-binding (1);Cullin, conserved site (1);	0.046847	0.85682	N	0.000000	T	0.79997	0.4543	L	0.58669	1.825	0.80722	D	1	P;D;D	0.89917	0.576;1.0;1.0	B;D;D	0.72338	0.126;0.977;0.962	T	0.79102	-0.1941	9	.	.	.	-14.7365	12.7468	0.57285	0.0:0.9201:0.0:0.0799	.	704;900;882	Q13620-3;Q13620;Q13620-1	.;CUL4B_HUMAN;.	K	882;887;900	ENSP00000360373:E882K;ENSP00000338919:E887K;ENSP00000384109:E900K	.	E	-	1	0	CUL4B	119544688	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.439000	0.80444	1.159000	0.42565	0.594000	0.82650	GAA		0.373	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		26	56	0	0	0	0	26	56				
CT47B1	643311	broad.mit.edu	37	X	120007815	120007815	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:120007815C>A	ENST00000371311.3	-	2	1089	c.835G>T	c.(835-837)Gaa>Taa	p.E279*		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	279										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						TCTTTCTCTTCCTCGCCTGCA	0.458																																						uc011muc.1		NA																	0					0						c.(835-837)GAA>TAA		cancer/testis antigen family 147, member B1																																				SO:0001587	stop_gained	643311							g.chrX:120007815C>A		CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.835G>T	X.37:g.120007815C>A	ENSP00000360360:p.Glu279*						p.E279*	NM_001145718	NP_001139190	P0C2W7	CT47B_HUMAN			2	1090	-			279			Potential.		A6NM97	Nonsense_Mutation	SNP	ENST00000371311.3	37	c.835G>T	CCDS48161.1	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036802	0.54896	.	.	ENSG00000236446	ENST00000371311	.	.	.	1.79	-2.75	0.05914	.	0.457984	0.16089	U	0.230176	.	.	.	.	.	.	0.32847	A	0.506107	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	2.8205	0.05470	0.2214:0.259:0.0:0.5196	.	.	.	.	X	279	.	ENSP00000360360:E279X	E	-	1	0	CT47B1	119891843	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-0.521000	0.06245	-1.099000	0.03034	0.279000	0.19357	GAA		0.458	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718		150	486	1	0	4.69e-74	5.57e-74	150	486				
THOC2	57187	broad.mit.edu	37	X	122820424	122820424	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:122820424G>C	ENST00000245838.8	-	8	773	c.742C>G	c.(742-744)Ctt>Gtt	p.L248V	THOC2_ENST00000355725.4_Missense_Mutation_p.L248V|THOC2_ENST00000491737.1_Missense_Mutation_p.L133V	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	248					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TTGAACCCAAGAATATGACAC	0.299																																						uc004etu.2		NA																	0				ovary(3)	3						c.(742-744)CTT>GTT		THO complex 2							102.0	90.0	93.0					X																	122820424		1836	4080	5916	SO:0001583	missense	57187				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding	g.chrX:122820424G>C	AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.742C>G	X.37:g.122820424G>C	ENSP00000245838:p.Leu248Val					THOC2_uc011muh.1_Missense_Mutation_p.L169V|THOC2_uc011mui.1_Missense_Mutation_p.L133V	p.L248V	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN			8	774	-			248					A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	ENST00000245838.8	37	c.742C>G	CCDS43988.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.319294	0.81469	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.97	5.97	0.96955	.	0.236772	0.29501	N	0.011973	D	0.85022	0.5602	M	0.86573	2.825	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.991;0.999	D	0.85993	0.1490	9	0.52906	T	0.07	-1.0887	19.2739	0.94023	0.0:0.0:1.0:0.0	.	169;248	B4DKZ6;Q8NI27	.;THOC2_HUMAN	V	248;248;133;169	.	ENSP00000245838:L248V	L	-	1	0	THOC2	122648105	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.751000	0.74893	2.504000	0.84457	0.594000	0.82650	CTT		0.299	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058153.3			6	49	0	0	0	0	6	49				
GPR112	139378	broad.mit.edu	37	X	135429169	135429169	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:135429169G>T	ENST00000394143.1	+	6	3595	c.3304G>T	c.(3304-3306)Gca>Tca	p.A1102S	GPR112_ENST00000394141.1_Missense_Mutation_p.A897S|GPR112_ENST00000412101.1_Missense_Mutation_p.A897S|GPR112_ENST00000287534.4_Missense_Mutation_p.A1039S|GPR112_ENST00000370652.1_Missense_Mutation_p.A1102S	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1102					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GACATCCATGGCAGTTCCTTC	0.478																																						uc004ezu.1		NA																	0				ovary(5)|large_intestine(2)|skin(2)|lung(1)|breast(1)|pancreas(1)	12						c.(3304-3306)GCA>TCA		G-protein coupled receptor 112							166.0	140.0	149.0					X																	135429169		2203	4300	6503	SO:0001583	missense	139378				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chrX:135429169G>T	AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.3304G>T	X.37:g.135429169G>T	ENSP00000377699:p.Ala1102Ser					GPR112_uc010nsb.1_Missense_Mutation_p.A897S|GPR112_uc010nsc.1_Missense_Mutation_p.A869S	p.A1102S	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN			6	3595	+	Acute lymphoblastic leukemia(192;0.000127)		1102			Extracellular (Potential).		A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	ENST00000394143.1	37	c.3304G>T	CCDS35409.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.422220	0.25639	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.40476	1.07;1.07;1.03;1.13;1.03	2.82	-2.01	0.07410	.	.	.	.	.	T	0.19525	0.0469	N	0.24115	0.695	0.09310	N	1	B;P;B	0.36909	0.356;0.573;0.437	B;B;B	0.30401	0.115;0.115;0.054	T	0.15321	-1.0441	9	0.59425	D	0.04	.	0.2394	0.00190	0.2991:0.2045:0.2878:0.2086	.	1039;897;1102	Q8IZF6-2;Q8IZF6-3;Q8IZF6	.;.;GP112_HUMAN	S	1102;1102;897;1039;897	ENSP00000377699:A1102S;ENSP00000359686:A1102S;ENSP00000416526:A897S;ENSP00000287534:A1039S;ENSP00000377697:A897S	ENSP00000287534:A1039S	A	+	1	0	GPR112	135256835	0.000000	0.05858	0.000000	0.03702	0.044000	0.14063	-0.290000	0.08354	-0.368000	0.08040	0.436000	0.28706	GCA		0.478	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000286639.1			11	212	1	0	1.34e-11	1.58e-11	11	212				
SOX3	6658	broad.mit.edu	37	X	139586097	139586097	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:139586097C>G	ENST00000370536.2	-	1	1128	c.1129G>C	c.(1129-1131)Gag>Cag	p.E377Q		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	377					central nervous system development (GO:0007417)|face development (GO:0060324)|hypothalamus development (GO:0021854)|negative regulation of neuron differentiation (GO:0045665)|neuron development (GO:0048666)|organ morphogenesis (GO:0009887)|pituitary gland development (GO:0021983)|sensory organ development (GO:0007423)|Sertoli cell development (GO:0060009)|sex determination (GO:0007530)|spermatid differentiation (GO:0048515)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					GAGCTGGGCTCAGACTTCACT	0.751																																						uc004fbd.1		NA																	0				pancreas(1)	1						c.(1129-1131)GAG>CAG		SRY (sex determining region Y)-box 3							5.0	7.0	6.0					X																	139586097		1848	3650	5498	SO:0001583	missense	6658				face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding	g.chrX:139586097C>G		CCDS14669.1	Xq27.1	2013-10-17			ENSG00000134595	ENSG00000134595		"""SRY (sex determining region Y)-boxes"""	11199	protein-coding gene	gene with protein product		313430	"""panhypopituitarism"""	PHP		15800844	Standard	NM_005634		Approved		uc004fbd.1	P41225	OTTHUMG00000022544	ENST00000370536.2:c.1129G>C	X.37:g.139586097C>G	ENSP00000359567:p.Glu377Gln						p.E377Q	NM_005634	NP_005625	P41225	SOX3_HUMAN			1	1129	-	Acute lymphoblastic leukemia(192;7.65e-05)		377					P35714|Q5JWI3|Q9NP49	Missense_Mutation	SNP	ENST00000370536.2	37	c.1129G>C	CCDS14669.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655611	0.47467	.	.	ENSG00000134595	ENST00000370536	D	0.85339	-1.97	4.15	3.28	0.37604	.	0.286861	0.32343	U	0.006240	T	0.80879	0.4708	M	0.66939	2.045	0.50813	D	0.999897	P	0.36282	0.546	B	0.32980	0.156	T	0.76460	-0.2951	9	.	.	.	.	10.252	0.43375	0.0:0.8995:0.0:0.1005	.	377	P41225	SOX3_HUMAN	Q	377	ENSP00000359567:E377Q	.	E	-	1	0	SOX3	139413763	1.000000	0.71417	0.947000	0.38551	0.720000	0.41350	7.078000	0.76821	0.761000	0.33130	0.483000	0.47432	GAG		0.751	SOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058577.1			4	16	0	0	0	0	4	16				
MAGEA6	4105	broad.mit.edu	37	X	151870209	151870209	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:151870209C>A	ENST00000329342.5	+	3	1124	c.899C>A	c.(898-900)tCc>tAc	p.S300Y		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	300	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCGCATTTCCTACCCACTC	0.562																																						uc004ffq.1		NA																	0					0						c.(898-900)TCC>TAC		melanoma antigen family A, 6							131.0	127.0	128.0					X																	151870209		2202	4298	6500	SO:0001583	missense	4105						protein binding	g.chrX:151870209C>A		CCDS76050.1	Xq28	2009-03-13			ENSG00000197172	ENSG00000197172			6804	protein-coding gene	gene with protein product	"""MAGE-6 antigen"", ""melanoma-associated antigen 6"", ""melanoma antigen family A 6"", ""cancer/testis antigen family 1, member 6"""	300176		MAGE6		8575766	Standard	NM_005363		Approved	CT1.6	uc004ffq.1	P43360	OTTHUMG00000022642	ENST00000329342.5:c.899C>A	X.37:g.151870209C>A	ENSP00000329199:p.Ser300Tyr					MAGEA6_uc004ffr.1_Missense_Mutation_p.S300Y|MAGEA2_uc010nto.2_Intron	p.S300Y	NM_005363	NP_005354	P43360	MAGA6_HUMAN			3	1093	+	Acute lymphoblastic leukemia(192;6.56e-05)		300			MAGE.		A8IF93|Q6NW44	Missense_Mutation	SNP	ENST00000329342.5	37	c.899C>A	CCDS14708.1	.	.	.	.	.	.	.	.	.	.	c	6.201	0.405162	0.11754	.	.	ENSG00000197172	ENST00000329342	T	0.02050	4.48	0.879	0.879	0.19155	.	.	.	.	.	T	0.03434	0.0099	M	0.77820	2.39	0.09310	N	1	P	0.38335	0.627	B	0.34346	0.18	T	0.34576	-0.9823	9	0.87932	D	0	.	4.8218	0.13394	0.0:1.0:0.0:0.0	.	300	P43360	MAGA6_HUMAN	Y	300	ENSP00000329199:S300Y	ENSP00000329199:S300Y	S	+	2	0	MAGEA6	151620865	0.000000	0.05858	0.006000	0.13384	0.015000	0.08874	-0.219000	0.09228	0.718000	0.32166	0.181000	0.17075	TCC		0.562	MAGEA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058747.2	NM_005363		7	227	1	0	5.18e-06	5.99e-06	7	227				
ATP2B3	492	broad.mit.edu	37	X	152821580	152821580	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chrX:152821580C>T	ENST00000349466.2	+	13	2458	c.2132C>T	c.(2131-2133)aCg>aTg	p.T711M	ATP2B3_ENST00000393842.1_Missense_Mutation_p.T697M|ATP2B3_ENST00000359149.3_Missense_Mutation_p.T711M|ATP2B3_ENST00000370186.1_Missense_Mutation_p.T697M|ATP2B3_ENST00000263519.4_Missense_Mutation_p.T711M|ATP2B3_ENST00000370181.2_Missense_Mutation_p.T697M			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	711					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AACATCAACACGGCCCGGGCC	0.592																																						uc004fht.1		NA																	0				pancreas(1)	1						c.(2131-2133)ACG>ATG		plasma membrane calcium ATPase 3 isoform 3b							96.0	88.0	90.0					X																	152821580		2203	4300	6503	SO:0001583	missense	492				ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	g.chrX:152821580C>T	U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.2132C>T	X.37:g.152821580C>T	ENSP00000343886:p.Thr711Met					ATP2B3_uc004fhs.1_Missense_Mutation_p.T711M	p.T711M	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN			12	2258	+	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		711			Cytoplasmic (Potential).		B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	ENST00000349466.2	37	c.2132C>T	CCDS35440.1	.	.	.	.	.	.	.	.	.	.	C	21.2	4.112559	0.77210	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.97066	-4.23;-4.23;-4.23;-4.23;-4.23;-4.23	4.87	4.87	0.63330	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);ATPase, P-type,  transmembrane domain (1);	0.053328	0.85682	D	0.000000	D	0.99299	0.9755	H	0.99825	4.815	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98198	1.0466	10	0.87932	D	0	-18.7713	16.1639	0.81739	0.0:1.0:0.0:0.0	.	711;711	Q16720;Q16720-2	AT2B3_HUMAN;.	M	697;711;697;711;711;697	ENSP00000359205:T697M;ENSP00000343886:T711M;ENSP00000377425:T697M;ENSP00000352062:T711M;ENSP00000263519:T711M;ENSP00000359200:T697M	ENSP00000263519:T711M	T	+	2	0	ATP2B3	152474774	1.000000	0.71417	0.941000	0.38009	0.648000	0.38561	5.991000	0.70602	2.155000	0.67459	0.529000	0.55759	ACG		0.592	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060957.1	NM_021949		26	99	0	0	0	0	26	99				
VPS13D	55187	broad.mit.edu	37	1	12569009	12569009	+	Frame_Shift_Del	DEL	C	C	-	rs368242467		TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr1:12569009delC	ENST00000358136.3	+	70	13228	c.13098delC	c.(13096-13098)agcfs	p.S4366fs	VPS13D_ENST00000543710.1_Frame_Shift_Del_p.S170fs|VPS13D_ENST00000471923.1_Frame_Shift_Del_p.S22fs|VPS13D_ENST00000543766.1_Frame_Shift_Del_p.S364fs|SNORA59A_ENST00000459326.1_RNA|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Frame_Shift_Del_p.S4341fs	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACGCAAAGAGCCTCTACTATG	0.522																																						uc001atv.2		NA																	0				ovary(4)|pancreas(1)	5						c.(13096-13098)AGCfs		vacuolar protein sorting 13D isoform 1							131.0	133.0	133.0					1																	12569009		2203	4300	6503	SO:0001589	frameshift_variant	55187				protein localization			g.chr1:12569009delC	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.13098delC	1.37:g.12569009delC	ENSP00000350854:p.Ser4366fs					VPS13D_uc001atw.2_Frame_Shift_Del_p.S4341fs|VPS13D_uc001atx.2_Frame_Shift_Del_p.S3553fs|VPS13D_uc009vnl.2_RNA|VPS13D_uc010obd.1_Frame_Shift_Del_p.S364fs	p.S4366fs	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	70	13239	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	4365						Frame_Shift_Del	DEL	ENST00000358136.3	37	c.13098delC	CCDS30588.1																																																																																				0.522	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		15	162	NA	NA	NA	NA	15	162	---	---	---	---
MGA	23269	broad.mit.edu	37	15	42059359	42059359	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr15:42059359delA	ENST00000570161.1	+	23	9079	c.9079delA	c.(9079-9081)aaafs	p.K3027fs	MGA_ENST00000219905.7_Frame_Shift_Del_p.K3027fs|MGA_ENST00000566586.1_Frame_Shift_Del_p.K2818fs|MGA_ENST00000545763.1_Frame_Shift_Del_p.K2818fs|MGA_ENST00000389936.4_Frame_Shift_Del_p.K2988fs			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	AGTTGGACACAAAATGAACTT	0.493																																						uc010ucy.1		NA																	0				ovary(6)|kidney(3)|upper_aerodigestive_tract(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	12						c.(9079-9081)AAAfs		MAX-interacting protein isoform 1							123.0	121.0	121.0					15																	42059359		1946	4146	6092	SO:0001589	frameshift_variant	23269					MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr15:42059359delA	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.9079delA	15.37:g.42059359delA	ENSP00000457035:p.Lys3027fs					MGA_uc010ucz.1_Frame_Shift_Del_p.K2818fs	p.K3027fs	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	24	9260	+		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)	2988					Q0VAX6|Q75ME7|Q86UM5	Frame_Shift_Del	DEL	ENST00000570161.1	37	c.9079delA	CCDS55959.1																																																																																				0.493	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1		28	92	NA	NA	NA	NA	28	92	---	---	---	---
ARVCF	421	broad.mit.edu	37	22	19958829	19958829	+	Frame_Shift_Del	DEL	G	G	-	rs5993890	byFrequency	TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr22:19958829delG	ENST00000263207.3	-	19	3102	c.2811delC	c.(2809-2811)cccfs	p.P937fs	ARVCF_ENST00000406522.1_Frame_Shift_Del_p.P868fs|ARVCF_ENST00000406259.1_Frame_Shift_Del_p.P931fs|ARVCF_ENST00000401994.1_Frame_Shift_Del_p.P874fs|ARVCF_ENST00000344269.3_Frame_Shift_Del_p.P874fs	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	937					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)					TGCTGGGCCCGGGGGGAGGGG	0.657											OREG0026306	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc002zqz.2		NA																	0				liver(1)	1						c.(2809-2811)CCCfs		armadillo repeat protein							38.0	28.0	32.0					22																	19958829		2141	4233	6374	SO:0001589	frameshift_variant	421				cell adhesion|multicellular organismal development		protein binding	g.chr22:19958829delG		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.2811delC	22.37:g.19958829delG	ENSP00000263207:p.Pro937fs		OREG0026306	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	737	ARVCF_uc002zqy.2_Intron	p.P937fs	NM_001670	NP_001661	O00192	ARVC_HUMAN			19	3082	-	Colorectal(54;0.0993)		937					B7WNV2	Frame_Shift_Del	DEL	ENST00000263207.3	37	c.2811delC	CCDS13771.1																																																																																				0.657	ARVCF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000075314.5	NM_001670		2	4	NA	NA	NA	NA	2	4	---	---	---	---
FAT1	2195	broad.mit.edu	37	4	187539957	187539959	+	In_Frame_Del	DEL	GTG	GTG	-			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr4:187539957_187539959delGTG	ENST00000441802.2	-	10	7990_7992	c.7781_7783delCAC	c.(7780-7785)ccacaa>caa	p.P2594del		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2594	Cadherin 23. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCTCGAAATTGTGGTGCATTGTC	0.453										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	uc003izf.2		NA																	0				ovary(10)|central_nervous_system(1)|pancreas(1)	12						c.(7780-7785)CCACAA>CAA		FAT tumor suppressor 1 precursor																																				SO:0001651	inframe_deletion	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187539957_187539959delGTG	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.7781_7783delCAC	4.37:g.187539960_187539962delGTG	ENSP00000406229:p.Pro2594del	HNSCC(5;0.00058)					p.P2594del	NM_005245	NP_005236	Q14517	FAT1_HUMAN			10	7969_7971	-			2594			Extracellular (Potential).|Cadherin 23.			In_Frame_Del	DEL	ENST00000441802.2	37	c.7781_7783delCAC	CCDS47177.1																																																																																				0.453	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		8	40	NA	NA	NA	NA	8	40	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150924152	150924153	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr5:150924152_150924153insT	ENST00000261800.5	-	9	6547_6548	c.6535_6536insA	c.(6535-6537)agafs	p.R2179fs		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2179	Cadherin 19. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTCAGGTACTCTGACTTTGTAA	0.5																																						uc003lue.3		NA																	0				ovary(4)|upper_aerodigestive_tract(1)|skin(1)	6						c.(6535-6537)AGAfs		FAT tumor suppressor 2 precursor																																				SO:0001589	frameshift_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150924152_150924153insT	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.6536dupA	5.37:g.150924153_150924153dupT	ENSP00000261800:p.Arg2179fs					GM2A_uc011dcs.1_Intron	p.R2179fs	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	6548_6549	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2179			Cadherin 19.|Extracellular (Potential).		O75091|Q9NSR7	Frame_Shift_Ins	INS	ENST00000261800.5	37	c.6535_6536insA	CCDS4317.1																																																																																				0.500	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		18	155	NA	NA	NA	NA	18	155	---	---	---	---
SYNE1	23345	broad.mit.edu	37	6	152841678	152841678	+	Splice_Site	DEL	C	C	-			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr6:152841678delC	ENST00000367255.5	-	6	827		c.e6-1		SYNE1_ENST00000341594.5_Splice_Site|SYNE1_ENST00000265368.4_Splice_Site|SYNE1_ENST00000413186.2_Splice_Site|SYNE1_ENST00000367248.3_Splice_Site|SYNE1_ENST00000367253.4_Splice_Site|SYNE1_ENST00000466159.2_Splice_Site|SYNE1_ENST00000448038.1_Splice_Site|SYNE1_ENST00000423061.1_Splice_Site	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1						cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GTTCACAAGGCTGTAAAAAGT	0.368										HNSCC(10;0.0054)																												uc010kiw.2		NA																	0				central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45						c.e6-1		spectrin repeat containing, nuclear envelope 1							101.0	101.0	101.0					6																	152841678		2203	4300	6503	SO:0001630	splice_region_variant	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152841678delC	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.226-1G>-	6.37:g.152841678delC		HNSCC(10;0.0054)				SYNE1_uc003qot.3_Splice_Site_p.P76_splice|SYNE1_uc003qou.3_Splice_Site_p.P76_splice|SYNE1_uc010kjb.1_Splice_Site_p.P76_splice|SYNE1_uc003qpa.1_Splice_Site_p.P76_splice	p.P76_splice	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	6	828	-		Ovarian(120;0.0955)						E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Splice_Site	DEL	ENST00000367255.5	37	c.226_splice	CCDS5236.2																																																																																				0.368	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961	Intron	7	115	NA	NA	NA	NA	7	115	---	---	---	---
LRRC17	10234	broad.mit.edu	37	7	102584992	102584993	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr7:102584992_102584993insA	ENST00000339431.4	+	4	1559_1560	c.1264_1265insA	c.(1264-1266)gaafs	p.E422fs	FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000393772.2_Intron|LRRC17_ENST00000249377.4_3'UTR|FBXL13_ENST00000379308.3_Intron|LRRC17_ENST00000485478.1_3'UTR|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379306.3_Intron	NM_001031692.2	NP_001026862.1	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	422					bone marrow development (GO:0048539)|negative regulation of osteoclast differentiation (GO:0045671)|ossification (GO:0001503)	extracellular space (GO:0005615)				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						TGATGAATGGGAAAAAAAACAT	0.337																																						uc003vau.2		NA																	0				ovary(1)	1						c.(1264-1266)GAAfs		leucine rich repeat containing 17 isoform 1																																				SO:0001589	frameshift_variant	10234				bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space		g.chr7:102584992_102584993insA	U32907	CCDS5727.1, CCDS34721.1	7q22.1	2009-05-26			ENSG00000128606	ENSG00000128606			16895	protein-coding gene	gene with protein product						8982252, 19336404	Standard	NM_005824		Approved	P37NB, H_RG318M05.3	uc003vau.3	Q8N6Y2	OTTHUMG00000157210	ENST00000339431.4:c.1272dupA	7.37:g.102585000_102585000dupA	ENSP00000344242:p.Glu422fs					FBXL13_uc010liq.1_Intron|FBXL13_uc003vaq.2_Intron|FBXL13_uc010lir.1_Intron|FBXL13_uc003var.2_Intron|FBXL13_uc003vas.2_Intron|LRRC17_uc003vat.2_3'UTR	p.E422fs	NM_001031692	NP_001026862	Q8N6Y2	LRC17_HUMAN			4	1653_1654	+			422					Q13288|Q6UWA7|Q75MG5	Frame_Shift_Ins	INS	ENST00000339431.4	37	c.1264_1265insA	CCDS34721.1																																																																																				0.337	LRRC17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347930.1	NM_005824		14	31	NA	NA	NA	NA	14	31	---	---	---	---
TAS2R41	259287	broad.mit.edu	37	7	143175518	143175518	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr7:143175518delA	ENST00000408916.1	+	1	553	c.553delA	c.(553-555)aaafs	p.K185fs	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	185					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CCCATCCCTGAAACTGGTCAT	0.368																																						uc003wdc.1		NA																	0				pancreas(1)|skin(1)	2						c.(553-555)AAAfs		taste receptor, type 2, member 41							72.0	71.0	72.0					7																	143175518		1860	4107	5967	SO:0001589	frameshift_variant	259287				sensory perception of taste	integral to membrane	G-protein coupled receptor activity	g.chr7:143175518delA	AF494232	CCDS43663.1	7q34	2012-08-22			ENSG00000221855	ENSG00000221855		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18883	protein-coding gene	gene with protein product		613965				12379855	Standard	NM_176883		Approved	T2R59	uc003wdc.1	P59536	OTTHUMG00000155892	ENST00000408916.1:c.553delA	7.37:g.143175518delA	ENSP00000386201:p.Lys185fs					uc003wda.2_Intron	p.K185fs	NM_176883	NP_795364	P59536	T2R41_HUMAN			1	553	+	Melanoma(164;0.15)		185			Helical; Name=5; (Potential).		P59550|Q495I2|Q50KJ5|Q50KJ6|Q50KJ7|Q645W7	Frame_Shift_Del	DEL	ENST00000408916.1	37	c.553delA	CCDS43663.1																																																																																				0.368	TAS2R41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342149.1			11	74	NA	NA	NA	NA	11	74	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139418203	139418204	+	Frame_Shift_Ins	INS	-	-	T	rs187473846	byFrequency	TCGA-CV-6955-01A-11D-2012-08	TCGA-CV-6955-10A-01D-2013-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	f2c7fbe1-af36-4c42-b5ae-b9bf1e88fe36	483fb0b9-330d-47a6-b13b-b7611f022788	g.chr9:139418203_139418204insT	ENST00000277541.6	-	3	443_444	c.368_369insA	c.(367-369)acgfs	p.T123fs	NOTCH1_ENST00000491649.1_5'UTR	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	123	EGF-like 3. {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)			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)		ACTTGTACTCCGTCAGCGTGAG	0.708			"""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		0				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.(367-369)ACGfs		notch1 preproprotein																																				SO:0001589	frameshift_variant	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.chr9:139418203_139418204insT	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.368_369insA	9.37:g.139418203_139418204insT	ENSP00000277541:p.Thr123fs	HNSCC(8;0.001)					p.T123fs	NM_017617	NP_060087	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	3	368_369	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	123			Extracellular (Potential).|EGF-like 3.		Q59ED8|Q5SXM3	Frame_Shift_Ins	INS	ENST00000277541.6	37	c.368_369insA	CCDS43905.1																																																																																				0.708	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		8	28	NA	NA	NA	NA	8	28	---	---	---	---
