#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	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
RP11-146E13.4	0	broad.mit.edu	37	14	19857036	19857036	+	lincRNA	SNP	A	A	G	rs374719458		TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr14:19857036A>G	ENST00000548109.1	+	0	72																											CTGGATAATAAAGTTCATCTC	0.373																																						ENST00000548109.1																			0																																																			0							g.chr14:19857036A>G																													14.37:g.19857036A>G														0	72	+									RNA	SNP	ENST00000548109.1	37																																																																																						0.373	RP11-146E13.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000409408.1			4	85	0	0	0	1	0	4	85				
MYOC	4653	broad.mit.edu	37	1	171605566	171605566	+	Silent	SNP	G	G	A			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr1:171605566G>A	ENST00000037502.6	-	3	1085	c.1014C>T	c.(1012-1014)ggC>ggT	p.G338G		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	338	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGGACTCAGCGCCCTGGAAAT	0.532																																						ENST00000037502.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28						c.(1012-1014)ggC>ggT		myocilin, trabecular meshwork inducible glucocorticoid response							70.0	67.0	68.0					1																	171605566		2203	4300	6503	SO:0001819	synonymous_variant	4653				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	g.chr1:171605566G>A	BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.1014C>T	1.37:g.171605566G>A							p.G338G	NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN			3	1073	-	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		338			Olfactomedin-like.		B2RD84|O00620|Q7Z6Q9	Silent	SNP	ENST00000037502.6	37	c.1014C>T	CCDS1297.1	.	.	.	.	.	.	.	.	.	.	G	0.027	-1.359707	0.01245	.	.	ENSG00000034971	ENST00000537133	.	.	.	5.76	-7.41	0.01392	.	.	.	.	.	T	0.09905	0.0243	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.36866	-0.9730	5	0.54805	T	0.06	.	2.3449	0.04269	0.2377:0.2098:0.3702:0.1823	.	.	.	.	V	338	.	ENSP00000438746:A338V	A	-	2	0	MYOC	169872189	0.000000	0.05858	0.001000	0.08648	0.103000	0.19146	-3.001000	0.00652	-1.270000	0.02433	-0.315000	0.08773	GCG		0.532	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2	NM_000261		7	50	0	0	0	1	0	7	50				
XIRP2	129446	broad.mit.edu	37	2	168099562	168099562	+	Missense_Mutation	SNP	C	C	G	rs535459432		TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr2:168099562C>G	ENST00000409195.1	+	9	1749	c.1660C>G	c.(1660-1662)Caa>Gaa	p.Q554E	XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q332E|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q554E|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409605.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	379					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGACAGTTCTCAAAAAGATCT	0.398																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(1660-1662)Caa>Gaa		xin actin-binding repeat containing 2							44.0	41.0	42.0					2																	168099562		1838	4092	5930	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168099562C>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.1660C>G	2.37:g.168099562C>G	ENSP00000386840:p.Gln554Glu					XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.Q332E|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.Q554E|XIRP2_ENST00000420519.1_Intron	p.Q554E	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			9	1749	+			379					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409195.1	37	c.1660C>G	CCDS42769.1	.	.	.	.	.	.	.	.	.	.	C	16.87	3.241503	0.58995	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02579	4.24;4.24;4.24	5.54	5.54	0.83059	.	0.477259	0.22959	N	0.053564	T	0.09862	0.0242	L	0.34521	1.04	0.36110	D	0.844725	D;D;D	0.67145	0.976;0.986;0.996	B;P;D	0.76071	0.446;0.648;0.987	T	0.37337	-0.9710	10	0.34782	T	0.22	-6.0939	19.0979	0.93260	0.0:1.0:0.0:0.0	.	379;379;332	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	E	554;554;332	ENSP00000386840:Q554E;ENSP00000295237:Q554E;ENSP00000387255:Q332E	ENSP00000295237:Q554E	Q	+	1	0	XIRP2	167807808	0.371000	0.25056	1.000000	0.80357	0.995000	0.86356	1.751000	0.38339	2.615000	0.88500	0.655000	0.94253	CAA		0.398	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		5	49	0	0	0	1	0	5	49				
LOC220729	220729	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	C	G	rs79940815	byFrequency	TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr3:197348668C>G	ENST00000418868.1	-	0	591					NR_003266.2																						ACTTGAGGCTCTGTCCACCAA	0.488													C|||	539	0.107628	0.0083	0.0692	5008	,	,		20710	0.1776		0.1074	False		,,,				2504	0.1973					ENST00000418868.1																			0																																																			0							g.chr3:197348668C>G																													3.37:g.197348668C>G								NR_003266.2						0	591	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.488	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	118	0	0	0	1	0	4	118				
PTPN21	11099	broad.mit.edu	37	14	88945894	88945894	+	Silent	SNP	C	C	T	rs138744802		TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr14:88945894C>T	ENST00000556564.1	-	13	2165	c.1881G>A	c.(1879-1881)gcG>gcA	p.A627A	PTPN21_ENST00000328736.3_Silent_p.A627A	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	627					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCGCGTGGCGCGCGGCGGTGA	0.706													C|||	1	0.000199681	0.0	0.0	5008	,	,		11541	0.0		0.001	False		,,,				2504	0.0					ENST00000556564.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(1879-1881)gcG>gcA		protein tyrosine phosphatase, non-receptor type 21		C		0,4372		0,0,2186	20.0	22.0	21.0		1881	-2.0	0.0	14	dbSNP_134	21	5,8547		0,5,4271	no	coding-synonymous	PTPN21	NM_007039.3		0,5,6457	TT,TC,CC		0.0585,0.0,0.0387		627/1175	88945894	5,12919	2186	4276	6462	SO:0001819	synonymous_variant	11099					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity	g.chr14:88945894C>T	X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.1881G>A	14.37:g.88945894C>T						PTPN21_ENST00000328736.3_Silent_p.A627A	p.A627A	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN			13	2165	-			627						Silent	SNP	ENST00000556564.1	37	c.1881G>A	CCDS9884.1																																																																																				0.706	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			3	29	0	0	0	1	0	3	29				
NAT10	55226	broad.mit.edu	37	11	34162694	34162694	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr11:34162694T>C	ENST00000257829.3	+	25	2857	c.2651T>C	c.(2650-2652)aTt>aCt	p.I884T	NAT10_ENST00000531159.2_Missense_Mutation_p.I812T|NAT10_ENST00000527971.1_Intron	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	884	Required for localization to the nucleolus and midbody.					membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|N-acetyltransferase activity (GO:0008080)|poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GAAAAGGAGATTGAGCTGCCC	0.542																																						ENST00000257829.3																			0				endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23						c.(2650-2652)aTt>aCt		N-acetyltransferase 10 (GCN5-related)							184.0	175.0	178.0					11																	34162694		2202	4298	6500	SO:0001583	missense	55226					nucleolus	ATP binding|N-acetyltransferase activity|protein binding	g.chr11:34162694T>C	AF489535	CCDS7889.1, CCDS44568.1	11p13	2011-11-16	2008-09-24		ENSG00000135372	ENSG00000135372	2.3.1.-		29830	protein-coding gene	gene with protein product		609221	"""N-acetyltransferase 10"""			14592445, 21177859	Standard	NM_024662		Approved	hALP, FLJ10774, FLJ12179, NET43, KIAA1709	uc001mvk.3	Q9H0A0	OTTHUMG00000166249	ENST00000257829.3:c.2651T>C	11.37:g.34162694T>C	ENSP00000257829:p.Ile884Thr					NAT10_ENST00000531159.2_Missense_Mutation_p.I812T|NAT10_ENST00000527971.1_Intron	p.I884T	NM_024662.2	NP_078938.2	Q9H0A0	NAT10_HUMAN			25	2857	+		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)	884			Required for localization to the nucleolus and midbody.		B4DFD5|E7ESU4|E9PMN9|Q86WK5|Q9C0F4|Q9HA61|Q9NVF2	Missense_Mutation	SNP	ENST00000257829.3	37	c.2651T>C	CCDS7889.1	.	.	.	.	.	.	.	.	.	.	t	16.31	3.088411	0.55968	.	.	ENSG00000135372	ENST00000257829;ENST00000531159	T;T	0.32023	1.47;1.47	5.65	4.52	0.55395	.	0.150532	0.64402	N	0.000015	T	0.32285	0.0824	M	0.63843	1.955	0.80722	D	1	B	0.16166	0.016	B	0.16722	0.016	T	0.09707	-1.0662	10	0.62326	D	0.03	-9.8722	11.437	0.50074	0.0:0.0705:0.0:0.9295	.	884	Q9H0A0	NAT10_HUMAN	T	884;812	ENSP00000257829:I884T;ENSP00000433011:I812T	ENSP00000257829:I884T	I	+	2	0	NAT10	34119270	1.000000	0.71417	0.900000	0.35374	0.992000	0.81027	6.287000	0.72671	0.970000	0.38263	0.454000	0.30748	ATT		0.542	NAT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388693.1	NM_024662		7	210	0	0	0	1	0	7	210				
ZNF733P	643955	broad.mit.edu	37	7	62752443	62752443	+	RNA	SNP	G	G	C	rs372167638		TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr7:62752443G>C	ENST00000331425.6	-	0	992					NR_003952.1				zinc finger protein 733, pseudogene																		CTTATGTCTAGTAAGGTTTGA	0.438																																						ENST00000331425.6																			0																																																			0							g.chr7:62752443G>C			7q11.21	2012-04-20	2012-04-20	2012-04-20	ENSG00000185037	ENSG00000185037			32473	pseudogene	pseudogene			"""zinc finger protein 733"""	ZNF733			Standard	NR_003952		Approved		uc011kdj.2		OTTHUMG00000156270		7.37:g.62752443G>C								NR_003952.1						0	992	-									RNA	SNP	ENST00000331425.6	37																																																																																						0.438	ZNF733P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000343679.1			3	28	0	0	0	1	0	3	28				
TGOLN2	10618	broad.mit.edu	37	2	85554633	85554633	+	Silent	SNP	C	C	T	rs556852343		TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr2:85554633C>T	ENST00000409232.3	-	2	283	c.222G>A	c.(220-222)gcG>gcA	p.A74A	TGOLN2_ENST00000444342.2_Silent_p.A74A|TGOLN2_ENST00000377386.3_Silent_p.A74A|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000398263.2_Silent_p.A74A|TGOLN2_ENST00000409015.1_Silent_p.A74A			O43493	TGON2_HUMAN	trans-golgi network protein 2	74	14 X 14 AA tandem repeats.			A -> P (in Ref. 4; BAD96783). {ECO:0000305}.		Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)|transport vesicle (GO:0030133)											CTGGGGTCTGCGCCTCCGCAC	0.607																																						ENST00000377386.3																			0											c.(220-222)gcG>gcA		trans-golgi network protein 2							175.0	176.0	176.0					2																	85554633		1949	4138	6087	SO:0001819	synonymous_variant	10618					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding	g.chr2:85554633C>T	AF027515	CCDS46351.1, CCDS56126.1, CCDS56127.1	2p11.2	2012-06-25			ENSG00000152291	ENSG00000152291			15450	protein-coding gene	gene with protein product	"""trans-Golgi network protein (46, 48, 51kD isoforms)"""	603062				9422759, 21994457	Standard	NM_001206840		Approved	TGN51, TGN46, TGN48, TGN38, TTGN2	uc021vjw.1	O43493	OTTHUMG00000153017	ENST00000409232.3:c.222G>A	2.37:g.85554633C>T						TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000398263.2_Silent_p.A74A|TGOLN2_ENST00000444342.2_Silent_p.A74A|TGOLN2_ENST00000409232.3_Silent_p.A74A|TGOLN2_ENST00000409015.1_Silent_p.A74A	p.A74A			O43493	TGON2_HUMAN			2	684	-			74	A -> P (in Ref. 4; BAD96783).		14 X 14 AA tandem repeats.		B2R686|B8ZZ88|D6W5K3|F8WBK2|O15282|O43492|O43499|O43500|O43501|Q53G68|Q53GV2|Q6MZV1|Q6ZTM7|Q8N6T8|Q92760|Q96QL2	Silent	SNP	ENST00000409232.3	37	c.222G>A	CCDS56126.1																																																																																				0.607	TGOLN2-006	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000329045.2	NM_006464		5	272	0	0	0	1	0	5	272				
TVP23B	51030	broad.mit.edu	37	17	18708852	18708852	+	Splice_Site	SNP	A	A	G	rs2589696		TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr17:18708852A>G	ENST00000307767.8	+	7	890		c.e7-1		TVP23B_ENST00000476139.1_Splice_Site|TVP23B_ENST00000581733.1_Splice_Site	NM_016078.4	NP_057162.4	Q9NYZ1	TV23B_HUMAN	trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)							integral component of membrane (GO:0016021)											TGTCTTTTGCAGAACACTGGA	0.368																																						ENST00000476139.1																			0											c.e7-1		trans-golgi network vesicle protein 23 homolog B (S. cerevisiae)							113.0	100.0	104.0					17																	18708852		1849	4083	5932	SO:0001630	splice_region_variant	51030							g.chr17:18708852A>G	AF151906	CCDS42274.1	17p11.2	2012-11-29	2012-11-29	2012-11-29	ENSG00000171928	ENSG00000171928			20399	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B"", ""family with sequence similarity 18, member B1"""	FAM18B, FAM18B1		10810093	Standard	NM_016078		Approved	CGI-148, YDR084C	uc002gum.2	Q9NYZ1	OTTHUMG00000059052	ENST00000307767.8:c.592-1A>G	17.37:g.18708852A>G						TVP23B_ENST00000581733.1_Splice_Site|TVP23B_ENST00000307767.8_Splice_Site								7	1815	+								A8K448|Q96HK5|Q9Y3E6	Splice_Site	SNP	ENST00000307767.8	37		CCDS42274.1	19	0.0086996336996337	1	0.0020325203252032522	6	0.016574585635359115	0	0.0	12	0.0158311345646438	A	3.616	-0.078582	0.07141	.	.	ENSG00000171928	ENST00000307767	.	.	.	2.57	1.45	0.22620	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.602	0.12357	0.8326:0.0:0.1674:0.0	rs2589696	.	.	.	.	-1	.	.	.	+	.	.	FAM18B1	18649577	1.000000	0.71417	0.757000	0.31301	0.305000	0.27757	3.799000	0.55529	0.228000	0.21019	-1.211000	0.01629	.		0.368	TVP23B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000130667.2	NM_016078	Intron	4	74	0	0	0	1	0	4	74				
TAF3	83860	broad.mit.edu	37	10	8006929	8006929	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr10:8006929C>T	ENST00000344293.5	+	3	1662	c.1456C>T	c.(1456-1458)Ccc>Tcc	p.P486S		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	486					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						TTCAAATATGCCCCCCAACTT	0.488																																						ENST00000344293.5																			0				NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						c.(1456-1458)Ccc>Tcc		TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa							104.0	103.0	103.0					10																	8006929		1926	4123	6049	SO:0001583	missense	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8006929C>T	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.1456C>T	10.37:g.8006929C>T	ENSP00000340271:p.Pro486Ser						p.P486S	NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN			3	1662	+			486					Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Missense_Mutation	SNP	ENST00000344293.5	37	c.1456C>T	CCDS41487.1	.	.	.	.	.	.	.	.	.	.	C	13.39	2.223998	0.39300	.	.	ENSG00000165632	ENST00000344293	T	0.34859	1.34	5.62	4.72	0.59763	.	0.000000	0.64402	D	0.000003	T	0.53594	0.1806	M	0.80183	2.485	0.80722	D	1	D	0.56746	0.977	P	0.54460	0.753	T	0.56836	-0.7913	10	0.33940	T	0.23	-14.7526	14.6258	0.68621	0.0:0.93:0.0:0.07	.	486	Q5VWG9	TAF3_HUMAN	S	486	ENSP00000340271:P486S	ENSP00000340271:P486S	P	+	1	0	TAF3	8046935	1.000000	0.71417	0.983000	0.44433	0.035000	0.12851	4.211000	0.58507	1.389000	0.46526	0.650000	0.86243	CCC		0.488	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		4	104	0	0	0	1	0	4	104				
PPFIA4	8497	broad.mit.edu	37	1	203013195	203013195	+	Missense_Mutation	SNP	T	T	A			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr1:203013195T>A	ENST00000447715.2	+	8	914	c.473T>A	c.(472-474)tTt>tAt	p.F158Y	PPFIA4_ENST00000367240.2_Missense_Mutation_p.F158Y|PPFIA4_ENST00000414050.2_5'Flank|PPFIA4_ENST00000295706.4_5'UTR			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	158					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						AAGTCACTGTTTGAGCACCAC	0.627																																						ENST00000367240.2																			0				NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						c.(472-474)tTt>tAt		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4							46.0	44.0	44.0					1																	203013195		876	1991	2867	SO:0001583	missense	8497				cell communication	cell surface|cytoplasm	protein binding	g.chr1:203013195T>A	AF034801	CCDS44296.1	1q32.1	2013-01-10			ENSG00000143847	ENSG00000143847		"""Sterile alpha motif (SAM) domain containing"""	9248	protein-coding gene	gene with protein product	"""Liprin-alpha4"""	603145				9624153	Standard	XM_005245553		Approved		uc009xaj.3	O75335	OTTHUMG00000042123	ENST00000447715.2:c.473T>A	1.37:g.203013195T>A	ENSP00000402576:p.Phe158Tyr					PPFIA4_ENST00000447715.2_Missense_Mutation_p.F158Y|PPFIA4_ENST00000295706.4_5'UTR	p.F158Y			O75335	LIPA4_HUMAN			4	1000	+			0					A2RUJ5|B1APN8|B1N949|B7ZM43|O94971	Missense_Mutation	SNP	ENST00000447715.2	37	c.473T>A		.	.	.	.	.	.	.	.	.	.	T	28.7	4.941690	0.92526	.	.	ENSG00000143847	ENST00000367240;ENST00000447715	T;T	0.34859	1.34;1.34	5.01	5.01	0.66863	.	0.000000	0.46758	D	0.000272	T	0.60235	0.2253	.	.	.	0.80722	D	1	D	0.69078	0.997	D	0.68943	0.961	T	0.65853	-0.6067	9	0.72032	D	0.01	-15.7051	14.8994	0.70666	0.0:0.0:0.0:1.0	.	158	B1N949	.	Y	158	ENSP00000356209:F158Y;ENSP00000402576:F158Y	ENSP00000356209:F158Y	F	+	2	0	PPFIA4	201279818	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.868000	0.87116	2.124000	0.65301	0.460000	0.39030	TTT		0.627	PPFIA4-005	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000462949.1	NM_015053		3	21	0	0	0	1	0	3	21				
DNM1P47	100216544	broad.mit.edu	37	15	102292953	102292953	+	RNA	SNP	T	T	C			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr15:102292953T>C	ENST00000561463.1	+	0	999									DNM1 pseudogene 47																		GGCACAGCGGTGCGACGAGAT	0.587																																						ENST00000561463.1																			0																																																			0							g.chr15:102292953T>C	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292953T>C														0	999	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.587	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		5	7	0	0	0	1	0	5	7				
UBQLN1	29979	broad.mit.edu	37	9	86293436	86293436	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr9:86293436T>G	ENST00000376395.4	-	5	1313	c.790A>C	c.(790-792)Agc>Cgc	p.S264R	UBQLN1_ENST00000257468.7_Missense_Mutation_p.S264R	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	264					cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						CCTGGGATGCTTTCTAGGTTG	0.473																																					Melanoma(186;1284 2073 12755 14558 18426)	ENST00000376395.4																			0				breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						c.(790-792)Agc>Cgc		ubiquilin 1							330.0	330.0	330.0					9																	86293436		2203	4300	6503	SO:0001583	missense	29979				apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding	g.chr9:86293436T>G	AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"""Ubiquilin family"""	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.790A>C	9.37:g.86293436T>G	ENSP00000365576:p.Ser264Arg					UBQLN1_ENST00000257468.7_Missense_Mutation_p.S264R	p.S264R	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN			5	1313	-			264					Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Missense_Mutation	SNP	ENST00000376395.4	37	c.790A>C	CCDS6663.1	.	.	.	.	.	.	.	.	.	.	T	29.7	5.028285	0.93518	.	.	ENSG00000135018	ENST00000376395;ENST00000257468;ENST00000529923	T;T;T	0.80824	-1.42;-1.42;-1.42	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.90930	0.7149	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.993	D	0.92471	0.5985	10	0.87932	D	0	.	15.9736	0.80040	0.0:0.0:0.0:1.0	.	264;264	Q9UMX0-2;Q9UMX0	.;UBQL1_HUMAN	R	264;264;61	ENSP00000365576:S264R;ENSP00000257468:S264R;ENSP00000434194:S61R	ENSP00000257468:S264R	S	-	1	0	UBQLN1	85483256	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.635000	0.83286	2.165000	0.68154	0.533000	0.62120	AGC		0.473	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000052834.1	NM_013438		12	417	0	0	0	1	0	12	417				
C1orf127	148345	broad.mit.edu	37	1	11015082	11015082	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr1:11015082C>A	ENST00000377008.4	-	8	885	c.439G>T	c.(439-441)Gtc>Ttc	p.V147F	C1orf127_ENST00000377004.4_Missense_Mutation_p.V314F			Q8N9H9	CA127_HUMAN	chromosome 1 open reading frame 127	147										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		GGAATGCTGACCACCACAAAG	0.557																																						ENST00000377004.4																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32						c.(940-942)Gtc>Ttc		chromosome 1 open reading frame 127							93.0	88.0	89.0					1																	11015082		2203	4300	6503	SO:0001583	missense	148345							g.chr1:11015082C>A	AK094437	CCDS53267.1	1p36.22	2008-02-05			ENSG00000175262	ENSG00000175262			26730	protein-coding gene	gene with protein product						14702039	Standard	NM_001170754		Approved	FLJ37118	uc010oao.2	Q8N9H9	OTTHUMG00000002032	ENST00000377008.4:c.439G>T	1.37:g.11015082C>A	ENSP00000366207:p.Val147Phe					C1orf127_ENST00000377008.4_Missense_Mutation_p.V147F	p.V314F	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)	9	939	-	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	165					A0AVG8|A6NKM7|Q5VXJ2	Missense_Mutation	SNP	ENST00000377008.4	37	c.940G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.66|16.66	3.184461|3.184461	0.57800|0.57800	.|.	.|.	ENSG00000175262|ENSG00000175262	ENST00000377004;ENST00000377008|ENST00000418570;ENST00000520253	T;T|.	0.34472|.	1.36;1.36|.	4.58|4.58	3.66|3.66	0.41972|0.41972	.|.	0.477496|.	0.16425|.	N|.	0.214972|.	T|T	0.26195|0.26195	0.0639|0.0639	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	0.999999|0.999999	D;D;D|.	0.71674|.	0.998;0.998;0.998|.	D;D;D|.	0.73708|.	0.981;0.981;0.981|.	T|T	0.11941|0.11941	-1.0567|-1.0567	10|5	0.87932|.	D|.	0|.	-7.841|-7.841	6.1194|6.1194	0.20144|0.20144	0.0:0.7879:0.0:0.2121|0.0:0.7879:0.0:0.2121	.|.	165;165;147|.	B7ZLG7;Q8N9H9-2;Q8N9H9|.	.;.;CA127_HUMAN|.	F|C	314;147|148;291	ENSP00000366203:V314F;ENSP00000366207:V147F|.	ENSP00000366203:V314F|.	V|W	-|-	1|3	0|0	C1orf127|C1orf127	10937669|10937669	0.000000|0.000000	0.05858|0.05858	0.045000|0.045000	0.18777|0.18777	0.068000|0.068000	0.16541|0.16541	-0.285000|-0.285000	0.08410|0.08410	2.105000|2.105000	0.64084|0.64084	0.561000|0.561000	0.74099|0.74099	GTC|TGG		0.557	C1orf127-202	KNOWN	basic	protein_coding	protein_coding		NM_173507		4	60	1	0	0.00909568	1	0.00941483	4	60				
ACE	1636	broad.mit.edu	37	17	61566347	61566347	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr17:61566347C>T	ENST00000290866.4	+	17	2519	c.2495C>T	c.(2494-2496)cCa>cTa	p.P832L	ACE_ENST00000428043.1_Missense_Mutation_p.P832L|ACE_ENST00000290863.6_Missense_Mutation_p.P258L|ACE_ENST00000577647.1_Missense_Mutation_p.P258L|ACE_ENST00000421982.2_Intron|ACE_ENST00000413513.3_Missense_Mutation_p.P258L|ACE_ENST00000490216.2_Missense_Mutation_p.P258L	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	832	Peptidase M2 2.				angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|arachidonic acid secretion (GO:0050482)|blood vessel remodeling (GO:0001974)|cellular protein metabolic process (GO:0044267)|hematopoietic stem cell differentiation (GO:0060218)|hormone catabolic process (GO:0042447)|kidney development (GO:0001822)|mononuclear cell proliferation (GO:0032943)|peptide catabolic process (GO:0043171)|regulation of blood pressure (GO:0008217)|regulation of renal output by angiotensin (GO:0002019)|regulation of smooth muscle cell migration (GO:0014910)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|bradykinin receptor binding (GO:0031711)|carboxypeptidase activity (GO:0004180)|chloride ion binding (GO:0031404)|drug binding (GO:0008144)|endopeptidase activity (GO:0004175)|metallopeptidase activity (GO:0008237)|peptidyl-dipeptidase activity (GO:0008241)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Candoxatril(DB00616)|Captopril(DB01197)|Cilazapril(DB01340)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TACGAGACACCATCCCTGGAG	0.612																																						ENST00000577647.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51						c.(772-774)cCa>cTa		angiotensin I converting enzyme	Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)						97.0	89.0	92.0					17																	61566347		2203	4300	6503	SO:0001583	missense	1636				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding	g.chr17:61566347C>T	J04144	CCDS11637.1, CCDS45755.1, CCDS54155.1	17q23.3	2013-06-12	2013-06-12		ENSG00000159640	ENSG00000159640	3.4.15.1	"""CD molecules"""	2707	protein-coding gene	gene with protein product	"""peptidyl-dipeptidase A"""	106180	"""angiotensin I converting enzyme (peptidyl-dipeptidase A) 1"""	DCP1		2554286, 10319862	Standard	NM_001178057		Approved	ACE1, CD143	uc002jau.2	P12821	OTTHUMG00000154927	ENST00000290866.4:c.2495C>T	17.37:g.61566347C>T	ENSP00000290866:p.Pro832Leu					ACE_ENST00000413513.3_Missense_Mutation_p.P258L|ACE_ENST00000428043.1_Missense_Mutation_p.P832L|ACE_ENST00000490216.2_Missense_Mutation_p.P258L|ACE_ENST00000421982.2_Intron|ACE_ENST00000290863.6_Missense_Mutation_p.P258L|ACE_ENST00000290866.4_Missense_Mutation_p.P832L	p.P258L			P12821	ACE_HUMAN			6	818	+			832			Peptidase M2 1.		B0LPF0|B4DXI3|E7EU16|P22966|Q53YX9|Q59GY8|Q7M4L4	Missense_Mutation	SNP	ENST00000290866.4	37	c.773C>T	CCDS11637.1	.	.	.	.	.	.	.	.	.	.	C	14.97	2.695372	0.48202	.	.	ENSG00000159640	ENST00000290866;ENST00000428043;ENST00000290863;ENST00000413513	T;T;T;T	0.36157	1.27;1.27;1.27;1.27	5.57	4.58	0.56647	.	0.104196	0.64402	D	0.000002	T	0.55593	0.1930	M	0.80982	2.52	0.42926	D	0.994308	B;B;P	0.52577	0.221;0.428;0.954	B;B;P	0.54431	0.309;0.11;0.752	T	0.63897	-0.6533	10	0.62326	D	0.03	-10.546	15.3645	0.74510	0.1447:0.8553:0.0:0.0	.	258;258;832	B4DXI3;P12821-3;P12821	.;.;ACE_HUMAN	L	832;832;258;258	ENSP00000290866:P832L;ENSP00000397593:P832L;ENSP00000290863:P258L;ENSP00000392247:P258L	ENSP00000290863:P258L	P	+	2	0	ACE	58920079	0.114000	0.22134	0.010000	0.14722	0.660000	0.38997	3.898000	0.56281	1.289000	0.44618	0.561000	0.74099	CCA		0.612	ACE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337675.2			8	31	0	0	0	1	0	8	31				
TEX264	51368	broad.mit.edu	37	3	51708534	51708534	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr3:51708534C>T	ENST00000415259.1	+	2	1295	c.214C>T	c.(214-216)Ccc>Tcc	p.P72S	TEX264_ENST00000395057.1_Missense_Mutation_p.P72S|TEX264_ENST00000341333.5_Missense_Mutation_p.P72S|TEX264_ENST00000416589.1_Missense_Mutation_p.P72S|TEX264_ENST00000457573.1_Missense_Mutation_p.P72S			Q9Y6I9	TX264_HUMAN	testis expressed 264	72						extracellular vesicular exosome (GO:0070062)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		CAGCATCTCTCCCAAGCTCCG	0.597																																						ENST00000415259.1																			0				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7						c.(214-216)Ccc>Tcc		testis expressed 264							60.0	55.0	57.0					3																	51708534		2203	4300	6503	SO:0001583	missense	51368					extracellular region		g.chr3:51708534C>T	AF072733	CCDS2833.1, CCDS74945.1	3p21	2007-03-13	2007-03-13		ENSG00000164081	ENSG00000164081			30247	protein-coding gene	gene with protein product			"""testis expressed gene 264"", ""testis expressed sequence 264"""			12975309	Standard	NM_001243725		Approved	ZSIG11, FLJ13935	uc003dbm.4	Q9Y6I9	OTTHUMG00000156901	ENST00000415259.1:c.214C>T	3.37:g.51708534C>T	ENSP00000396628:p.Pro72Ser					TEX264_ENST00000395057.1_Missense_Mutation_p.P72S|TEX264_ENST00000416589.1_Missense_Mutation_p.P72S|TEX264_ENST00000457573.1_Missense_Mutation_p.P72S|TEX264_ENST00000341333.5_Missense_Mutation_p.P72S	p.P72S			Q9Y6I9	TX264_HUMAN		BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)	2	1295	+			72					B3KN87|Q9UKD7	Missense_Mutation	SNP	ENST00000415259.1	37	c.214C>T	CCDS2833.1	.	.	.	.	.	.	.	.	.	.	C	16.98	3.270406	0.59540	.	.	ENSG00000164081	ENST00000419358;ENST00000457573;ENST00000341333;ENST00000412249;ENST00000425781;ENST00000415259;ENST00000395057;ENST00000416589;ENST00000457927;ENST00000444233	T;T;T;T;T;T;T;T;T;T	0.08984	3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03;3.03	5.23	5.23	0.72850	Regulatory factor, effector, bacterial (1);	0.053759	0.85682	D	0.000000	T	0.15349	0.0370	L	0.52905	1.665	0.58432	D	0.999994	D;P	0.53745	0.962;0.751	P;P	0.51866	0.682;0.55	T	0.00256	-1.1873	10	0.49607	T	0.09	-10.7761	11.2371	0.48946	0.0:0.9065:0.0:0.0935	.	72;72	Q53GI2;Q9Y6I9	.;TX264_HUMAN	S	72	ENSP00000408989:P72S;ENSP00000408186:P72S;ENSP00000340969:P72S;ENSP00000393736:P72S;ENSP00000405783:P72S;ENSP00000396628:P72S;ENSP00000378497:P72S;ENSP00000398802:P72S;ENSP00000407151:P72S;ENSP00000415957:P72S	ENSP00000340969:P72S	P	+	1	0	TEX264	51683574	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.099000	0.71466	2.465000	0.83290	0.561000	0.74099	CCC		0.597	TEX264-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346530.1	NM_015926		5	39	0	0	0	1	0	5	39				
NXPE3	91775	broad.mit.edu	37	3	101520287	101520287	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr3:101520287C>G	ENST00000491511.2	+	5	1258	c.302C>G	c.(301-303)aCt>aGt	p.T101S	NXPE3_ENST00000273347.5_Missense_Mutation_p.T101S|NXPE3_ENST00000422132.1_Missense_Mutation_p.T101S|NXPE3_ENST00000477909.1_Missense_Mutation_p.T101S	NM_001134456.1	NP_001127928.1	Q969Y0	NXPE3_HUMAN	neurexophilin and PC-esterase domain family, member 3	101						extracellular region (GO:0005576)											GTGAAGAGCACTGACCCTTCT	0.552																																						ENST00000422132.1																			0											c.(301-303)aCt>aGt		neurexophilin and PC-esterase domain family, member 3							100.0	87.0	92.0					3																	101520287		2203	4300	6503	SO:0001583	missense	91775							g.chr3:101520287C>G	AK054664	CCDS2945.1	3q12.3	2012-06-14	2012-06-11	2012-06-11	ENSG00000144815	ENSG00000144815			28238	protein-coding gene	gene with protein product			"""family with sequence similarity 55, member C"""	FAM55C		12975309	Standard	NM_001134456		Approved	MGC15606	uc003dvn.3	Q969Y0	OTTHUMG00000159179	ENST00000491511.2:c.302C>G	3.37:g.101520287C>G	ENSP00000417485:p.Thr101Ser					NXPE3_ENST00000491511.1_Missense_Mutation_p.T101S|NXPE3_ENST00000273347.5_Missense_Mutation_p.T101S|NXPE3_ENST00000477909.1_Missense_Mutation_p.T101S	p.T101S							2	499	+								A8K0X4|D3DN53|Q7Z2S8	Missense_Mutation	SNP	ENST00000491511.2	37	c.302C>G	CCDS2945.1	.	.	.	.	.	.	.	.	.	.	C	12.56	1.974858	0.34848	.	.	ENSG00000144815	ENST00000273347;ENST00000491511;ENST00000477909;ENST00000422132	T;T;T;T	0.15017	2.46;2.46;2.46;2.46	5.67	4.8	0.61643	Immunoglobulin E-set (1);	0.079231	0.85682	N	0.000000	T	0.16128	0.0388	L	0.38733	1.17	0.41517	D	0.988373	B	0.13145	0.007	B	0.14023	0.01	T	0.02560	-1.1141	10	0.40728	T	0.16	-9.7919	15.2911	0.73868	0.0:0.7084:0.2916:0.0	.	101	Q969Y0	FA55C_HUMAN	S	101	ENSP00000273347:T101S;ENSP00000417485:T101S;ENSP00000418369:T101S;ENSP00000396421:T101S	ENSP00000273347:T101S	T	+	2	0	FAM55C	103002977	1.000000	0.71417	0.947000	0.38551	0.970000	0.65996	3.789000	0.55454	1.498000	0.48600	0.655000	0.94253	ACT		0.552	NXPE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353711.2	NM_145037		8	95	0	0	0	1	0	8	95				
TENM2	57451	broad.mit.edu	37	5	167182089	167182089	+	Intron	SNP	G	G	A	rs377302540		TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr5:167182089G>A	ENST00000518659.1	+	3	541				TENM2_ENST00000545108.1_Intron|TENM2_ENST00000520394.1_Missense_Mutation_p.V11I|TENM2_ENST00000520393.1_Intron|TENM2_ENST00000519204.1_Missense_Mutation_p.V11I	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2						axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										GATCATTAGCGTTGCTGGCAC	0.507																																						ENST00000519204.1																			0											c.(31-33)Gtt>Att		teneurin transmembrane protein 2		G		0,3986		0,0,1993	207.0	210.0	209.0			0.3	0.0	5		209	1,8307		0,1,4153	no	intron	ODZ2	NM_001122679.1		0,1,6146	AA,AG,GG		0.012,0.0,0.0081			167182089	1,12293	1993	4154	6147	SO:0001627	intron_variant	57451							g.chr5:167182089G>A	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.503-120902G>A	5.37:g.167182089G>A						TENM2_ENST00000520394.1_Missense_Mutation_p.V11I|TENM2_ENST00000518659.1_Intron|TENM2_ENST00000545108.1_Intron|TENM2_ENST00000520393.1_Intron	p.V11I							1	149	+								Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.31G>A		.	.	.	.	.	.	.	.	.	.	G	21.2	4.110094	0.77210	0.0	1.2E-4	ENSG00000145934	ENST00000519204;ENST00000520394	D;D	0.89196	-2.12;-2.48	5.95	0.326	0.15908	.	.	.	.	.	T	0.80711	0.4675	.	.	.	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.68996	-0.5262	8	0.87932	D	0	.	3.4253	0.07408	0.4243:0.0:0.3976:0.1781	.	11;11	F8VNQ3;G3V106	.;.	I	11	ENSP00000428964:V11I;ENSP00000427874:V11I	ENSP00000428964:V11I	V	+	1	0	ODZ2	167114667	0.000000	0.05858	0.000000	0.03702	0.943000	0.58893	0.119000	0.15626	0.109000	0.17891	0.655000	0.94253	GTT		0.507	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		4	133	0	0	0	1	0	4	133				
PRDM8	56978	broad.mit.edu	37	4	81123237	81123237	+	Silent	SNP	C	C	T			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr4:81123237C>T	ENST00000504452.1	+	8	1460	c.621C>T	c.(619-621)ggC>ggT	p.G207G	PRDM8_ENST00000415738.2_Silent_p.G207G|PRDM8_ENST00000339711.4_Silent_p.G207G			Q9NQV8	PRDM8_HUMAN	PR domain containing 8	207	Gly-rich.				corpus callosum morphogenesis (GO:0021540)|corticospinal tract morphogenesis (GO:0021957)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						gcggcggcggcggtggcaaag	0.657											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000339711.4																			0				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						c.(619-621)ggC>ggT		PR domain containing 8							24.0	31.0	29.0					4																	81123237		2009	4173	6182	SO:0001819	synonymous_variant	56978				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:81123237C>T	AF275815	CCDS43243.1	4q21	2008-08-21				ENSG00000152784			13993	protein-coding gene	gene with protein product							Standard	NM_020226		Approved		uc003hmc.4	Q9NQV8		ENST00000504452.1:c.621C>T	4.37:g.81123237C>T			OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1203	PRDM8_ENST00000504452.1_Silent_p.G207G|PRDM8_ENST00000415738.2_Silent_p.G207G	p.G207G	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN			10	1852	+			207			Gly-rich.		A8K7X2|Q6IQ36	Silent	SNP	ENST00000504452.1	37	c.621C>T	CCDS43243.1																																																																																				0.657	PRDM8-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362793.1			4	42	0	0	0	1	0	4	42				
JMJD1C	221037	broad.mit.edu	37	10	64936221	64936221	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr10:64936221G>A	ENST00000399262.2	-	24	7455	c.7237C>T	c.(7237-7239)Caa>Taa	p.Q2413*	JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.Q2176*|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.Q2231*	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2413	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TCAAGGCCTTGTTCTTTTGAA	0.333																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(7237-7239)Caa>Taa		jumonji domain containing 1C							97.0	87.0	90.0					10																	64936221		1824	4074	5898	SO:0001587	stop_gained	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64936221G>A	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.7237C>T	10.37:g.64936221G>A	ENSP00000382204:p.Gln2413*					JMJD1C_ENST00000542921.1_Nonsense_Mutation_p.Q2231*|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000402544.1_Nonsense_Mutation_p.Q2176*	p.Q2413*	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			24	7455	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		2413			JmjC.		A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Nonsense_Mutation	SNP	ENST00000399262.2	37	c.7237C>T	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	G	50	16.100200	0.99854	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921	.	.	.	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-7.7266	19.1459	0.93467	0.0:0.0:1.0:0.0	.	.	.	.	X	2413;2176;2231	.	ENSP00000382204:Q2413X	Q	-	1	0	JMJD1C	64606227	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.596000	0.82721	2.617000	0.88574	0.655000	0.94253	CAA		0.333	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		4	48	0	0	0	1	0	4	48				
LOC220729	220729	broad.mit.edu	37	3	197348646	197348646	+	RNA	SNP	T	T	C	rs377377382		TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr3:197348646T>C	ENST00000418868.1	-	0	613					NR_003266.2																						TGGGCCTGCCTGCCCTTTCCA	0.532																																						ENST00000418868.1																			0																																																			0							g.chr3:197348646T>C																													3.37:g.197348646T>C								NR_003266.2						0	613	-									RNA	SNP	ENST00000418868.1	37																																																																																						0.532	AC024560.3-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000340283.1			4	101	0	0	0	1	0	4	101				
ATF7IP	55729	broad.mit.edu	37	12	14613530	14613530	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr12:14613530C>T	ENST00000540793.1	+	8	2415	c.2260C>T	c.(2260-2262)Cct>Tct	p.P754S	ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000543189.1_Missense_Mutation_p.P753S|ATF7IP_ENST00000536444.1_Missense_Mutation_p.P753S|ATF7IP_ENST00000544627.1_Missense_Mutation_p.P762S|ATF7IP_ENST00000261168.4_Missense_Mutation_p.P754S			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	754	Interaction with SETDB1.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GTCAGTTCTTCCTGCACCCAA	0.473																																						ENST00000544627.1																			0				cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						c.(2284-2286)Cct>Tct		activating transcription factor 7 interacting protein							138.0	131.0	134.0					12																	14613530		2203	4300	6503	SO:0001583	missense	55729				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding	g.chr12:14613530C>T	AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.2260C>T	12.37:g.14613530C>T	ENSP00000444589:p.Pro754Ser					ATF7IP_ENST00000540793.1_Missense_Mutation_p.P754S|ATF7IP_ENST00000261168.4_Missense_Mutation_p.P754S|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Missense_Mutation_p.P753S|ATF7IP_ENST00000543189.1_Missense_Mutation_p.P753S	p.P762S			Q6VMQ6	MCAF1_HUMAN			9	2604	+			754			Interaction with SETDB1.		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	c.2284C>T	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605730	0.46527	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.27402	1.67;1.7;1.67;1.67;1.67	6.02	6.02	0.97574	.	0.086170	0.51477	D	0.000095	T	0.43033	0.1229	L	0.47716	1.5	0.51767	D	0.999932	D;D;D;D	0.65815	0.976;0.976;0.995;0.995	P;P;P;P	0.56474	0.698;0.698;0.799;0.799	T	0.04347	-1.0958	9	.	.	.	-21.2029	15.6449	0.77039	0.0:0.933:0.0:0.067	.	753;754;753;365	G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;MCAF1_HUMAN;.;.	S	754;753;753;762;754	ENSP00000261168:P754S;ENSP00000443179:P753S;ENSP00000445955:P753S;ENSP00000440440:P762S;ENSP00000444589:P754S	.	P	+	1	0	ATF7IP	14504797	1.000000	0.71417	1.000000	0.80357	0.823000	0.46562	2.776000	0.47709	2.857000	0.98124	0.650000	0.86243	CCT		0.473	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1	NM_018179		15	105	0	0	0	1	0	15	105				
TIMELESS	8914	broad.mit.edu	37	12	56815178	56815178	+	Missense_Mutation	SNP	T	T	C	rs78697874		TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr12:56815178T>C	ENST00000553532.1	-	23	2975	c.2825A>G	c.(2824-2826)gAg>gGg	p.E942G	TIMELESS_ENST00000229201.4_Missense_Mutation_p.E941G|TIMELESS_ENST00000554616.1_Missense_Mutation_p.E439G					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CTTGTACAGCTCCCGCCGCTC	0.527																																						ENST00000229201.4																			0				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						c.(2821-2823)gAg>gGg		timeless circadian clock							134.0	123.0	127.0					12																	56815178		2203	4300	6503	SO:0001583	missense	8914				cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin		g.chr12:56815178T>C	AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.2825A>G	12.37:g.56815178T>C	ENSP00000450607:p.Glu942Gly					TIMELESS_ENST00000554616.1_Missense_Mutation_p.E439G|TIMELESS_ENST00000553532.1_Missense_Mutation_p.E942G	p.E941G	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN			23	2976	-			942						Missense_Mutation	SNP	ENST00000553532.1	37	c.2822A>G	CCDS8918.1	.	.	.	.	.	.	.	.	.	.	T	32	5.141585	0.94560	.	.	ENSG00000111602	ENST00000229201;ENST00000553532;ENST00000554616	T;T;T	0.13538	2.58;2.58;2.58	4.99	4.99	0.66335	Timeless C-terminal (1);	0.195767	0.42172	D	0.000750	T	0.25568	0.0622	L	0.58810	1.83	0.31965	N	0.607868	P	0.42010	0.768	P	0.50405	0.64	T	0.16012	-1.0417	10	0.56958	D	0.05	-8.0335	14.3491	0.66688	0.0:0.0:0.0:1.0	.	942	Q9UNS1	TIM_HUMAN	G	941;942;439	ENSP00000229201:E941G;ENSP00000450607:E942G;ENSP00000450848:E439G	ENSP00000229201:E942G	E	-	2	0	TIMELESS	55101445	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.366000	0.79548	2.180000	0.69256	0.454000	0.30748	GAG		0.527	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000409771.1	NM_003920		9	79	0	0	0	1	0	9	79				
GUSBP1	728411	broad.mit.edu	37	5	21491473	21491473	+	RNA	SNP	C	C	T			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr5:21491473C>T	ENST00000607545.1	+	0	179					NR_027026.1		Q15486	GUSP1_HUMAN	glucuronidase, beta pseudogene 1						carbohydrate metabolic process (GO:0005975)|nervous system development (GO:0007399)|skeletal system development (GO:0001501)		hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)										GTAACCAGTTCAAGTTGGAAG	0.542																																						ENST00000607545.1																			0																																																			0							g.chr5:21491473C>T	BC064850, X75940		5p14.3	2012-10-04			ENSG00000183666	ENSG00000183666			13670	pseudogene	pseudogene						8565635	Standard	NR_027026		Approved		uc010iub.3	Q15486	OTTHUMG00000162474		5.37:g.21491473C>T								NR_027026.1						0	179	+								A6NLY8|A8K1B7|Q969T8|Q9BUH2	RNA	SNP	ENST00000607545.1	37																																																																																						0.542	GUSBP1-006	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000470546.1	NG_008324		4	47	0	0	0	1	0	4	47				
COL4A3BP	10087	broad.mit.edu	37	5	74722233	74722233	+	Missense_Mutation	SNP	G	G	T			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr5:74722233G>T	ENST00000405807.4	-	4	840	c.419C>A	c.(418-420)gCa>gAa	p.A140E	COL4A3BP_ENST00000380494.5_Missense_Mutation_p.A268E|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.A140E	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	140					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		GTAGCCACTTGCTCCAGACAC	0.398																																						ENST00000380494.5																			0				breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16						c.(802-804)gCa>gAa		collagen, type IV, alpha 3 (Goodpasture antigen) binding protein							106.0	98.0	101.0					5																	74722233		2203	4300	6503	SO:0001583	missense	10087				ER to Golgi ceramide transport|immune response	cytosol|endoplasmic reticulum membrane|Golgi apparatus	ceramide binding|phosphatidylinositol-4-phosphate binding|protein binding|protein kinase activity	g.chr5:74722233G>T	AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"""StAR-related lipid transfer (START) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2205	protein-coding gene	gene with protein product	"""ceramide transporter"", ""StAR-related lipid transfer (START) domain containing 11"""	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.419C>A	5.37:g.74722233G>T	ENSP00000383996:p.Ala140Glu					COL4A3BP_ENST00000405807.4_Missense_Mutation_p.A140E|COL4A3BP_ENST00000261415.7_Missense_Mutation_p.A140E	p.A268E	NM_001130105.1	NP_001123577.1	Q9Y5P4	C43BP_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;1e-53)	5	1096	-		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)	140					A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Missense_Mutation	SNP	ENST00000405807.4	37	c.803C>A	CCDS4028.1	.	.	.	.	.	.	.	.	.	.	G	26.0	4.693107	0.88735	.	.	ENSG00000113163	ENST00000405807;ENST00000380494;ENST00000261415	T;T;T	0.31510	1.53;1.49;1.53	5.47	4.59	0.56863	.	0.000000	0.85682	D	0.000000	T	0.38108	0.1028	L	0.44542	1.39	0.58432	D	0.999999	D;D;P	0.63880	0.979;0.993;0.554	P;P;B	0.61658	0.642;0.892;0.373	T	0.09530	-1.0670	10	0.02654	T	1	-1.5289	14.6348	0.68680	0.0715:0.0:0.9285:0.0	.	140;268;140	Q9Y5P4;Q9Y5P4-3;Q9Y5P4-2	C43BP_HUMAN;.;.	E	140;268;140	ENSP00000383996:A140E;ENSP00000369862:A268E;ENSP00000261415:A140E	ENSP00000261415:A140E	A	-	2	0	COL4A3BP	74757989	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.983000	0.88140	2.558000	0.86282	0.591000	0.81541	GCA		0.398	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219875.2	NM_005713		5	77	1	0	5.9392e-07	1	6.37114e-07	5	77				
OSBPL2	9885	broad.mit.edu	37	20	60854351	60854351	+	Silent	SNP	C	C	T			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr20:60854351C>T	ENST00000313733.3	+	7	832	c.630C>T	c.(628-630)agC>agT	p.S210S	OSBPL2_ENST00000358053.2_Silent_p.S198S|OSBPL2_ENST00000439951.2_Silent_p.S118S	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	210					lipid transport (GO:0006869)		cholesterol binding (GO:0015485)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			GGGGCAAAAGCGTGGAGGCGG	0.592																																						ENST00000313733.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17						c.(628-630)agC>agT		oxysterol binding protein-like 2							97.0	78.0	84.0					20																	60854351		2203	4300	6503	SO:0001819	synonymous_variant	9885				lipid transport		lipid binding	g.chr20:60854351C>T	AB018315	CCDS13494.1, CCDS13495.1, CCDS63323.1	20q13.3	2008-08-01	2001-11-28		ENSG00000130703	ENSG00000130703		"""Oxysterol binding proteins"""	15761	protein-coding gene	gene with protein product		606731	"""oxysterol-binding protein-like 2"""			10588946, 11861666	Standard	NM_144498		Approved	KIAA0772, ORP-2	uc002yck.1	Q9H1P3	OTTHUMG00000032909	ENST00000313733.3:c.630C>T	20.37:g.60854351C>T						OSBPL2_ENST00000439951.2_Silent_p.S118S|OSBPL2_ENST00000358053.2_Silent_p.S198S	p.S210S	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	BRCA - Breast invasive adenocarcinoma(19;1.33e-06)		7	832	+	Breast(26;7.76e-09)		210					A8K736|Q6IBT0|Q9BZB1|Q9Y4B8	Silent	SNP	ENST00000313733.3	37	c.630C>T	CCDS13495.1																																																																																				0.592	OSBPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080021.1	NM_014835		3	43	0	0	0	1	0	3	43				
PPP1R10	5514	broad.mit.edu	37	6	30571928	30571928	+	Missense_Mutation	SNP	C	C	A			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr6:30571928C>A	ENST00000376511.2	-	14	1917	c.1365G>T	c.(1363-1365)atG>atT	p.M455I		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	455	Interaction with WDR82. {ECO:0000250}.				protein import into nucleus (GO:0006606)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|nucleus (GO:0005634)|PTW/PP1 phosphatase complex (GO:0072357)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein phosphatase inhibitor activity (GO:0004864)			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						CCTTCTCCTCCATGTTATCAT	0.557																																						ENST00000376511.2																			0				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						c.(1363-1365)atG>atT		protein phosphatase 1, regulatory subunit 10							105.0	113.0	110.0					6																	30571928		2203	4300	6503	SO:0001583	missense	5514				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding	g.chr6:30571928C>A	Y13247	CCDS4681.1	6p21.3	2012-04-17	2011-10-04		ENSG00000204569	ENSG00000204569		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9284	protein-coding gene	gene with protein product	"""phosphatase 1 nuclear targeting subunit"", ""HLA-C associated transcript 53"""	603771	"""protein phosphatase 1, regulatory (inhibitor) subunit 10"""			9461602, 9784381	Standard	NM_002714		Approved	PNUTS, FB19, CAT53, p99	uc003nqn.2	Q96QC0	OTTHUMG00000031259	ENST00000376511.2:c.1365G>T	6.37:g.30571928C>A	ENSP00000365694:p.Met455Ile						p.M455I	NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN			14	1917	-			455			Interaction with WDR82 (By similarity).		O00405	Missense_Mutation	SNP	ENST00000376511.2	37	c.1365G>T	CCDS4681.1	.	.	.	.	.	.	.	.	.	.	C	14.91	2.677884	0.47886	.	.	ENSG00000204569	ENST00000376511	T	0.54479	0.57	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.58395	0.2119	L	0.50333	1.59	0.80722	D	1	P	0.49447	0.924	P	0.60682	0.878	T	0.61481	-0.7054	10	0.66056	D	0.02	-15.5691	16.8491	0.85989	0.0:1.0:0.0:0.0	.	455	Q96QC0	PP1RA_HUMAN	I	455	ENSP00000365694:M455I	ENSP00000365694:M455I	M	-	3	0	PPP1R10	30679907	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	6.875000	0.75551	2.498000	0.84270	0.467000	0.42956	ATG		0.557	PPP1R10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076556.2	NM_002714		6	144	1	0	0.217242	1	0.217242	6	144				
SUGP2	10147	broad.mit.edu	37	19	19120892	19120892	+	Silent	SNP	G	G	A			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr19:19120892G>A	ENST00000601879.1	-	5	2407	c.2110C>T	c.(2110-2112)Cta>Tta	p.L704L	SUGP2_ENST00000337018.6_Silent_p.L704L|SUGP2_ENST00000456085.2_Silent_p.L473L|SUGP2_ENST00000452918.2_Silent_p.L704L|SUGP2_ENST00000600377.1_Silent_p.L718L			Q8IX01	SUGP2_HUMAN	SURP and G patch domain containing 2	704					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CCTGAGGATAGGAGGGTCTGG	0.642																																						ENST00000601879.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(2110-2112)Cta>Tta		SURP and G patch domain containing 2							97.0	96.0	96.0					19																	19120892		2203	4300	6503	SO:0001819	synonymous_variant	10147				mRNA processing|RNA splicing	nucleus	RNA binding	g.chr19:19120892G>A	AB002363	CCDS12392.1	19p13	2013-01-28	2010-08-10	2010-08-10	ENSG00000064607	ENSG00000064607		"""G patch domain containing"""	18641	protein-coding gene	gene with protein product		607993	"""splicing factor, arginine/serine-rich 14"""	SFRS14		12594045	Standard	NM_014884		Approved	KIAA0365	uc002nkx.2	Q8IX01		ENST00000601879.1:c.2110C>T	19.37:g.19120892G>A						SUGP2_ENST00000600377.1_Silent_p.L718L|SUGP2_ENST00000452918.2_Silent_p.L704L|SUGP2_ENST00000337018.6_Silent_p.L704L|SUGP2_ENST00000456085.2_Silent_p.L473L	p.L704L			Q8IX01	SUGP2_HUMAN			5	2407	-			704					C9JI71|O15071|O60369|Q5JPH7|Q8WUF7	Silent	SNP	ENST00000601879.1	37	c.2110C>T	CCDS12392.1																																																																																				0.642	SUGP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464627.1	NM_001017392		5	70	0	0	0	1	0	5	70				
SALL1	6299	broad.mit.edu	37	16	51173693	51173693	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr16:51173693C>T	ENST00000251020.4	-	2	2473	c.2440G>A	c.(2440-2442)Gat>Aat	p.D814N	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000440970.1_Missense_Mutation_p.D717N|SALL1_ENST00000541611.1_Intron	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	814					adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TTTTTCTCATCAAAGGAACCT	0.512																																					GBM(103;1352 1446 1855 4775 8890)	ENST00000440970.1																			0				NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126						c.(2149-2151)Gat>Aat		spalt-like transcription factor 1							126.0	133.0	131.0					16																	51173693		2198	4300	6498	SO:0001583	missense	6299				adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr16:51173693C>T	X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176	ENST00000251020.4:c.2440G>A	16.37:g.51173693C>T	ENSP00000251020:p.Asp814Asn					SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.D814N	p.D717N	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	COAD - Colon adenocarcinoma(2;0.24)		2	2580	-		all_cancers(37;0.0322)	814					Q99881|Q9NSC3|Q9P1R0	Missense_Mutation	SNP	ENST00000251020.4	37	c.2149G>A	CCDS10747.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.325193	0.41197	.	.	ENSG00000103449	ENST00000251020;ENST00000440970;ENST00000457559	T;T	0.08634	3.08;3.07	5.34	5.34	0.76211	.	0.044611	0.85682	D	0.000000	T	0.21347	0.0514	M	0.68317	2.08	0.80722	D	1	D	0.60575	0.988	P	0.53518	0.728	T	0.00649	-1.1627	10	0.32370	T	0.25	.	19.0945	0.93244	0.0:1.0:0.0:0.0	.	814	Q9NSC2	SALL1_HUMAN	N	814;717;778	ENSP00000251020:D814N;ENSP00000407914:D717N	ENSP00000251020:D814N	D	-	1	0	SALL1	49731194	1.000000	0.71417	0.621000	0.29145	0.009000	0.06853	7.818000	0.86416	2.511000	0.84671	0.454000	0.30748	GAT		0.512	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256883.2	NM_002968		8	175	0	0	0	1	0	8	175				
ZNF91	7644	broad.mit.edu	37	19	23542322	23542322	+	Missense_Mutation	SNP	C	C	G			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr19:23542322C>G	ENST00000300619.7	-	4	3664	c.3459G>C	c.(3457-3459)aaG>aaC	p.K1153N	ZNF91_ENST00000397082.2_Missense_Mutation_p.K1121N|ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000596528.1_5'Flank	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	1153					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)	p.K1153N(1)					all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TATGAATTTTCTTATGGTTAG	0.438																																						ENST00000300619.7																			1	Substitution - Missense(1)	p.K1153N(1)	lung(1)								c.(3457-3459)aaG>aaC		zinc finger protein 91							50.0	58.0	55.0					19																	23542322		2152	4263	6415	SO:0001583	missense	7644					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:23542322C>G	M61871	CCDS42541.1, CCDS74322.1	19p12	2014-02-04	2006-05-12		ENSG00000167232	ENSG00000167232		"""Zinc fingers, C2H2-type"", ""-"""	13166	protein-coding gene	gene with protein product		603971	"""zinc finger protein 91 (HPF7, HTF10)"""			2023909, 2505992	Standard	XR_430154		Approved	HPF7, HTF10	uc002nre.3	Q05481	OTTHUMG00000183268	ENST00000300619.7:c.3459G>C	19.37:g.23542322C>G	ENSP00000300619:p.Lys1153Asn					ZNF91_ENST00000397082.2_Missense_Mutation_p.K1121N|ZNF91_ENST00000599743.1_Intron	p.K1153N	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN			4	3664	-		all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)	1153					A8K5E1|B7Z6G6	Missense_Mutation	SNP	ENST00000300619.7	37	c.3459G>C	CCDS42541.1	.	.	.	.	.	.	.	.	.	.	C	10.79	1.449129	0.26074	.	.	ENSG00000167232	ENST00000300619;ENST00000397082	T;T	0.05996	3.4;3.36	0.474	-0.687	0.11320	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08537	0.0212	N	0.14661	0.345	0.23795	N	0.996822	D;D	0.89917	1.0;0.995	D;P	0.77557	0.99;0.807	T	0.29852	-0.9998	9	0.59425	D	0.04	.	3.2733	0.06889	0.0:0.4986:0.2725:0.2288	.	1121;1153	Q05481-2;Q05481	.;ZNF91_HUMAN	N	1153;1121	ENSP00000300619:K1153N;ENSP00000380272:K1121N	ENSP00000300619:K1153N	K	-	3	2	ZNF91	23334162	0.001000	0.12720	0.004000	0.12327	0.132000	0.20833	0.763000	0.26517	-0.317000	0.08677	0.306000	0.20318	AAG		0.438	ZNF91-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465891.1	NM_003430		3	55	0	0	0	1	0	3	55				
SACS	26278	broad.mit.edu	37	13	23905654	23905654	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr13:23905654T>G	ENST00000382292.3	-	9	12634	c.12361A>C	c.(12361-12363)Att>Ctt	p.I4121L	SACS_ENST00000382298.3_Missense_Mutation_p.I4121L|SACS_ENST00000402364.1_Missense_Mutation_p.I3371L			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	4121					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGCATAGCAATTAAATATGAA	0.358																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(12361-12363)Att>Ctt		spastic ataxia of Charlevoix-Saguenay (sacsin)							90.0	91.0	91.0					13																	23905654		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23905654T>G	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.12361A>C	13.37:g.23905654T>G	ENSP00000371729:p.Ile4121Leu					SACS_ENST00000382292.3_Missense_Mutation_p.I4121L|SACS_ENST00000402364.1_Missense_Mutation_p.I3371L	p.I4121L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	12949	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	4121					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.12361A>C	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	T	12.40	1.926272	0.34002	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.86769	-2.03;-2.17;-2.03	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	T	0.80193	0.4578	L	0.36672	1.1	0.50467	D	0.999873	B	0.26483	0.15	B	0.28991	0.097	T	0.74172	-0.3751	10	0.02654	T	1	.	15.2384	0.73450	0.0:0.0:0.0:1.0	.	4121	Q9NZJ4	SACS_HUMAN	L	4121;3371;4121	ENSP00000371729:I4121L;ENSP00000385844:I3371L;ENSP00000371735:I4121L	ENSP00000371729:I4121L	I	-	1	0	SACS	22803654	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.974000	0.88039	1.989000	0.58080	0.528000	0.53228	ATT		0.358	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		4	96	0	0	0	1	0	4	96				
OR10R2	343406	broad.mit.edu	37	1	158450674	158450674	+	Splice_Site	SNP	G	G	T			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr1:158450674G>T	ENST00000368152.1	+	1	1007	c.1007G>T	c.(1006-1008)tGa>tTa	p.*336L	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	0						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CTATATAATTGAAATATTATT	0.294																																						ENST00000368152.1																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41						c.e1+1		olfactory receptor, family 10, subfamily R, member 2							18.0	19.0	19.0					1																	158450674		2189	4288	6477	SO:0001630	splice_region_variant	343406				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158450674G>T	AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.1005+1G>T	1.37:g.158450674G>T						RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	p.*336_splice	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN			1	1007	+	all_hematologic(112;0.0378)		0					Q5VWM8|Q6IFS1|Q96R61	Splice_Site	SNP	ENST00000368152.1	37	c.1005_splice	CCDS30898.1	.	.	.	.	.	.	.	.	.	.	g	5.826	0.336624	0.11013	.	.	ENSG00000198965	ENST00000368152	.	.	.	3.34	-1.63	0.08345	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.2288	0.10592	0.5574:0.0:0.2678:0.1748	.	.	.	.	L	336	.	.	X	+	2	2	OR10R2	156717298	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-1.063000	0.03465	-0.357000	0.08175	-0.140000	0.14226	TGA		0.294	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051847.2	NM_001004472	Nonstop_Mutation	3	28	1	0	0.115264	1	0.117251	3	28				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		4	66	0	0	0	1	0	4	66				
MYO16	23026	broad.mit.edu	37	13	109365050	109365050	+	Missense_Mutation	SNP	G	G	A	rs111464054		TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr13:109365050G>A	ENST00000357550.2	+	2	309	c.268G>A	c.(268-270)Gtc>Atc	p.V90I	MYO16_ENST00000251041.5_Missense_Mutation_p.V90I|MYO16_ENST00000356711.2_Missense_Mutation_p.V90I	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCACACCCTCGTCTCCTCGGG	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		15954	0.0		0.001	False		,,,				2504	0.0					ENST00000356711.2																			0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(268-270)Gtc>Atc		myosin XVI		G	ILE/VAL,ILE/VAL	0,4406		0,0,2203	108.0	93.0	98.0		334,268	-1.1	0.0	13	dbSNP_132	98	5,8595	4.3+/-15.6	0,5,4295	yes	missense,missense	MYO16	NM_001198950.1,NM_015011.1	29,29	0,5,6498	AA,AG,GG		0.0581,0.0,0.0384	benign,benign	112/1881,90/1859	109365050	5,13001	2203	4300	6503	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109365050G>A		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.268G>A	13.37:g.109365050G>A	ENSP00000350160:p.Val90Ile					MYO16_ENST00000251041.5_Missense_Mutation_p.V90I|MYO16_ENST00000357550.2_Missense_Mutation_p.V90I	p.V90I	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		3	394	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		90						Missense_Mutation	SNP	ENST00000357550.2	37	c.268G>A	CCDS32008.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	1.482	-0.557004	0.03967	0.0	5.81E-4	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041	T;T;T	0.52754	0.65;0.65;0.65	5.28	-1.11	0.09840	Ankyrin repeat-containing domain (4);	0.639252	0.11360	U	0.572010	T	0.20251	0.0487	N	0.05534	-0.03	0.09310	N	1	B;B	0.24882	0.065;0.113	B;B	0.13407	0.005;0.009	T	0.18871	-1.0323	9	.	.	.	.	5.008	0.14298	0.38:0.3446:0.2754:0.0	.	90;90	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	I	90	ENSP00000349145:V90I;ENSP00000350160:V90I;ENSP00000251041:V90I	.	V	+	1	0	MYO16	108163051	0.001000	0.12720	0.000000	0.03702	0.019000	0.09904	-0.409000	0.07160	-0.010000	0.14271	-0.145000	0.13849	GTC		0.577	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045746.1	NM_015011		4	88	0	0	0	1	0	4	88				
SLC16A6	9120	broad.mit.edu	37	17	66267674	66267674	+	Silent	SNP	C	C	T			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr17:66267674C>T	ENST00000327268.4	-	6	791	c.627G>A	c.(625-627)gcG>gcA	p.A209A	SLC16A6_ENST00000580666.1_Silent_p.A209A|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	209					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	TTTTCGGTGACGCTGGTCCTC	0.463																																						ENST00000327268.4																			0				large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15						c.(625-627)gcG>gcA		solute carrier family 16, member 6	Pyruvic acid(DB00119)						137.0	132.0	134.0					17																	66267674		2203	4300	6503	SO:0001819	synonymous_variant	9120					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr17:66267674C>T	U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"""Solute carriers"""	10927	protein-coding gene	gene with protein product		603880	"""solute carrier family 16 (monocarboxylic acid transporters), member 6"", ""solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"""			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.627G>A	17.37:g.66267674C>T						SLC16A6_ENST00000580666.1_Silent_p.A209A|ARSG_ENST00000448504.2_Intron	p.A209A	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		6	791	-	all_cancers(12;1.24e-09)		209					Q6P1X3	Silent	SNP	ENST00000327268.4	37	c.627G>A	CCDS11675.1																																																																																				0.463	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448323.1	NM_004694		4	116	0	0	0	1	0	4	116				
KCNE3	10008	broad.mit.edu	37	11	74168562	74168562	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr11:74168562G>A	ENST00000310128.4	-	3	466	c.47C>T	c.(46-48)gCc>gTc	p.A16V	KCNE3_ENST00000525550.1_Missense_Mutation_p.A16V|RP11-702H23.4_ENST00000533008.1_RNA|RP11-702H23.6_ENST00000530510.1_RNA	NM_005472.4	NP_005463.1	Q9Y6H6	KCNE3_HUMAN	potassium voltage-gated channel, Isk-related family, member 3	16					regulation of potassium ion transport (GO:0043266)	integral component of membrane (GO:0016021)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					CTTCAGCACGGCATGCAGGCT	0.577																																						ENST00000310128.4																			0				cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4						c.(46-48)gCc>gTc		potassium voltage-gated channel, Isk-related family, member 3							80.0	75.0	77.0					11																	74168562		2200	4293	6493	SO:0001583	missense	10008					integral to membrane	voltage-gated potassium channel activity	g.chr11:74168562G>A	AF076531	CCDS8232.1	11q13.4	2014-09-17				ENSG00000175538		"""Potassium channels"""	6243	protein-coding gene	gene with protein product		604433				10219239	Standard	NM_005472		Approved	MiRP2, HOKPP	uc001ovc.3	Q9Y6H6		ENST00000310128.4:c.47C>T	11.37:g.74168562G>A	ENSP00000310557:p.Ala16Val					KCNE3_ENST00000525550.1_Missense_Mutation_p.A16V|RP11-702H23.4_ENST00000533008.1_RNA	p.A16V	NM_005472.4	NP_005463.1	Q9Y6H6	KCNE3_HUMAN			3	466	-	Breast(11;2.86e-06)		16						Missense_Mutation	SNP	ENST00000310128.4	37	c.47C>T	CCDS8232.1	.	.	.	.	.	.	.	.	.	.	G	9.454	1.091237	0.20471	.	.	ENSG00000175538	ENST00000310128;ENST00000525550;ENST00000532569;ENST00000531854;ENST00000529425	D;D;D;D;T	0.86694	-2.16;-2.16;-2.16;-1.54;-1.16	4.94	4.0	0.46444	.	0.714894	0.13411	N	0.389917	T	0.77301	0.4110	N	0.19112	0.55	0.09310	N	0.999995	B	0.20052	0.041	B	0.21917	0.037	T	0.65047	-0.6263	10	0.35671	T	0.21	1.8215	8.2818	0.31904	0.0:0.172:0.6501:0.1779	.	16	Q9Y6H6	KCNE3_HUMAN	V	16	ENSP00000310557:A16V;ENSP00000433633:A16V;ENSP00000431739:A16V;ENSP00000433697:A16V;ENSP00000434890:A16V	ENSP00000310557:A16V	A	-	2	0	KCNE3	73846210	0.040000	0.19996	0.816000	0.32577	0.054000	0.15201	2.475000	0.45162	1.370000	0.46153	0.462000	0.41574	GCC		0.577	KCNE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385531.1	NM_005472		4	62	0	0	0	1	0	4	62				
DNAH3	55567	broad.mit.edu	37	16	21170750	21170750	+	Missense_Mutation	SNP	C	C	T			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr16:21170750C>T	ENST00000261383.3	-	1	12	c.13G>A	c.(13-15)Ggg>Agg	p.G5R	TMEM159_ENST00000451578.2_Intron|DNAH3_ENST00000415178.1_Missense_Mutation_p.G5R|TMEM159_ENST00000572258.1_Intron|TMEM159_ENST00000572599.1_Intron|TMEM159_ENST00000574092.1_Intron|TMEM159_ENST00000233047.4_Intron|TMEM159_ENST00000261388.3_Intron	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	5	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)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCGAGGCGCCCTGTAGCTCCC	0.632																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(13-15)Ggg>Agg		dynein, axonemal, heavy chain 3							68.0	77.0	74.0					16																	21170750		2201	4300	6501	SO:0001583	missense	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21170750C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.13G>A	16.37:g.21170750C>T	ENSP00000261383:p.Gly5Arg					TMEM159_ENST00000261388.3_Intron|TMEM159_ENST00000233047.4_Intron|TMEM159_ENST00000572599.1_Intron|TMEM159_ENST00000574092.1_Intron|DNAH3_ENST00000415178.1_Missense_Mutation_p.G5R|TMEM159_ENST00000451578.2_Intron|TMEM159_ENST00000572258.1_Intron	p.G5R	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	1	12	-			5			Stem (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	c.13G>A	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	1.693	-0.503499	0.04261	.	.	ENSG00000158486	ENST00000261383;ENST00000415178	T;T	0.23147	1.92;2.04	2.09	1.07	0.20283	.	.	.	.	.	T	0.13756	0.0333	N	0.22421	0.69	0.09310	N	0.999999	B	0.24186	0.099	B	0.25140	0.058	T	0.36696	-0.9737	9	0.10636	T	0.68	.	6.4104	0.21688	0.0:0.6898:0.3102:0.0	.	5	Q8TD57	DYH3_HUMAN	R	5	ENSP00000261383:G5R;ENSP00000394245:G5R	ENSP00000261383:G5R	G	-	1	0	DNAH3	21078251	0.002000	0.14202	0.000000	0.03702	0.007000	0.05969	0.208000	0.17415	0.410000	0.25675	0.561000	0.74099	GGG		0.632	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		4	75	0	0	0	1	0	4	75				
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr11:3427845C>T	ENST00000529482.1	+	0	962									tumor suppressing subtransferable candidate 2 pseudogene																		CTTCAAGTGGCAGGAGCAGAA	0.587																																						ENST00000529482.1																			0																																																			0							g.chr11:3427845C>T			11p15.4	2014-06-05	2008-06-30		ENSG00000223756	ENSG00000223756			12384	pseudogene	pseudogene	"""tumor-supressing STF cDNA 2"", ""asparagine-linked glycosylation 1 homolog (yeast, beta-1,4-mannosyltransferase) (ALG1) pseudogene"""	608999	"""tumor suppressing subtransferable candidate 2"""			9403053	Standard	NR_024248		Approved				OTTHUMG00000011705		11.37:g.3427845C>T														0	962	+									RNA	SNP	ENST00000529482.1	37																																																																																						0.587	TSSC2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000392020.1			4	44	0	0	0	1	0	4	44				
MYO10	4651	broad.mit.edu	37	5	16701504	16701504	+	Missense_Mutation	SNP	G	G	T	rs375419087		TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr5:16701504G>T	ENST00000513610.1	-	25	3454	c.3000C>A	c.(2998-3000)gaC>gaA	p.D1000E	MYO10_ENST00000515803.1_Missense_Mutation_p.D339E|MYO10_ENST00000512061.1_5'Flank|MYO10_ENST00000505695.1_Missense_Mutation_p.D339E|MYO10_ENST00000274203.9_Missense_Mutation_p.D357E|MYO10_ENST00000427430.2_Missense_Mutation_p.D357E	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1000					ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)	p.D1000D(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGGCGTCGTCGTCGGCTTCGA	0.617																																						ENST00000513610.1																			1	Substitution - coding silent(1)	p.D1000D(1)	central_nervous_system(1)	NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(2998-3000)gaC>gaA		myosin X							38.0	42.0	41.0					5																	16701504		2145	4243	6388	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16701504G>T	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3000C>A	5.37:g.16701504G>T	ENSP00000421280:p.Asp1000Glu					MYO10_ENST00000505695.1_Missense_Mutation_p.D339E|MYO10_ENST00000515803.1_Missense_Mutation_p.D339E|MYO10_ENST00000427430.2_Missense_Mutation_p.D357E|MYO10_ENST00000274203.9_Missense_Mutation_p.D357E	p.D1000E	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			25	3454	-			1000					A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.3000C>A	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.920467	0.52653	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	D;D;D;D;D	0.88046	-2.2;-2.33;-2.25;-2.33;-2.25	4.99	-0.96	0.10340	.	.	.	.	.	T	0.67515	0.2901	N	0.24115	0.695	0.45690	D	0.998602	B;P	0.39060	0.0;0.657	B;B	0.28385	0.002;0.089	T	0.60611	-0.7229	9	0.10377	T	0.69	.	5.4551	0.16586	0.6303:0.1748:0.195:0.0	.	641;1000	Q69YP8;Q9HD67	.;MYO10_HUMAN	E	1000;339;357;339;357	ENSP00000421280:D1000E;ENSP00000425051:D339E;ENSP00000274203:D357E;ENSP00000421170:D339E;ENSP00000391106:D357E	ENSP00000274203:D357E	D	-	3	2	MYO10	16754504	0.948000	0.32251	0.826000	0.32828	0.904000	0.53231	0.076000	0.14712	-0.089000	0.12484	0.462000	0.41574	GAC		0.617	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		3	18	1	0	0.004672	1	0.00492229	3	18				
ANO5	203859	broad.mit.edu	37	11	22239825	22239825	+	Missense_Mutation	SNP	C	C	T	rs201725369		TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr11:22239825C>T	ENST00000324559.8	+	4	489	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	58			R -> W (found in a patient with hyper-CK- emia and a neurasthenic syndrome; unknown pathological significance; dbSNP:rs201725369). {ECO:0000269|PubMed:22499103}.		chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCTGAGGCGGCGGCTTATGGT	0.408													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15559	0.0		0.0	False		,,,				2504	0.0					ENST00000324559.8																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(172-174)Cgg>Tgg		anoctamin 5		C	TRP/ARG,TRP/ARG	0,4406		0,0,2203	142.0	131.0	135.0		169,172	5.9	1.0	11		135	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	ANO5	NM_001142649.1,NM_213599.2	101,101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	57/913,58/914	22239825	1,13005	2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22239825C>T	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.172C>T	11.37:g.22239825C>T	ENSP00000315371:p.Arg58Trp						p.R58W	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN			4	489	+			58						Missense_Mutation	SNP	ENST00000324559.8	37	c.172C>T	CCDS31444.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	27.4	4.828622	0.90955	0.0	1.16E-4	ENSG00000171714	ENST00000324559	T	0.72615	-0.67	5.87	5.87	0.94306	.	0.235104	0.44097	D	0.000497	D	0.83667	0.5304	M	0.61703	1.905	0.46222	D	0.998931	D	0.89917	1.0	D	0.87578	0.998	D	0.83822	0.0247	10	0.72032	D	0.01	.	20.2192	0.98319	0.0:1.0:0.0:0.0	.	58	Q75V66	ANO5_HUMAN	W	58	ENSP00000315371:R58W	ENSP00000315371:R58W	R	+	1	2	ANO5	22196401	1.000000	0.71417	0.978000	0.43139	0.877000	0.50540	5.059000	0.64306	2.780000	0.95670	0.655000	0.94253	CGG		0.408	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		5	47	0	0	0	1	0	5	47				
CSMD1	64478	broad.mit.edu	37	8	3263667	3263667	+	Silent	SNP	C	C	T			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr8:3263667C>T	ENST00000520002.1	-	16	2706	c.2151G>A	c.(2149-2151)ggG>ggA	p.G717G	CSMD1_ENST00000542608.1_Silent_p.G716G|CSMD1_ENST00000539096.1_Silent_p.G716G|CSMD1_ENST00000602557.1_Silent_p.G717G|CSMD1_ENST00000537824.1_Silent_p.G716G|CSMD1_ENST00000602723.1_Silent_p.G717G|CSMD1_ENST00000400186.3_Silent_p.G717G			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	717	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAACCGAGCTCCCGAGTAGAA	0.478																																						ENST00000520002.1																			0				breast(20)|large_intestine(5)	25						c.(2149-2151)ggG>ggA		CUB and Sushi multiple domains 1							51.0	52.0	52.0					8																	3263667		1911	4129	6040	SO:0001819	synonymous_variant	64478					integral to membrane		g.chr8:3263667C>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2151G>A	8.37:g.3263667C>T						CSMD1_ENST00000539096.1_Silent_p.G716G|CSMD1_ENST00000537824.1_Silent_p.G716G|CSMD1_ENST00000602723.1_Silent_p.G717G|CSMD1_ENST00000400186.3_Silent_p.G717G|CSMD1_ENST00000602557.1_Silent_p.G717G|CSMD1_ENST00000542608.1_Silent_p.G716G	p.G717G			Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	16	2706	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	717			Sushi 4.		Q0H0J5|Q96QU9|Q96RM4	Silent	SNP	ENST00000520002.1	37	c.2151G>A		.	.	.	.	.	.	.	.	.	.	C	1.920	-0.448649	0.04572	.	.	ENSG00000183117	ENST00000335551	.	.	.	5.46	-6.07	0.02158	.	.	.	.	.	T	0.39436	0.1078	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.41484	-0.9506	4	.	.	.	.	4.2441	0.10663	0.105:0.1024:0.4595:0.333	.	.	.	.	K	197	.	.	E	-	1	0	CSMD1	3251074	0.986000	0.35501	0.441000	0.26858	0.105000	0.19272	0.107000	0.15375	-1.051000	0.03226	-0.890000	0.02929	GAG		0.478	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		3	18	0	0	0	1	0	3	18				
SLC45A1	50651	broad.mit.edu	37	1	8390957	8390957	+	Silent	SNP	C	C	T			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr1:8390957C>T	ENST00000471889.1	+	5	1789	c.1404C>T	c.(1402-1404)ccC>ccT	p.P468P	SLC45A1_ENST00000377479.2_Silent_p.P502P|Y_RNA_ENST00000516445.1_RNA|SLC45A1_ENST00000289877.8_Silent_p.P468P|SLC45A1_ENST00000481265.1_3'UTR			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	468					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGGGGTCCCGAAACCAGCA	0.607																																						ENST00000471889.1																			0				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33						c.(1402-1404)ccC>ccT		solute carrier family 45, member 1							52.0	64.0	60.0					1																	8390957		2203	4299	6502	SO:0001819	synonymous_variant	50651				carbohydrate transport	integral to membrane	symporter activity	g.chr1:8390957C>T	AF118274	CCDS30577.1	1p36.23	2014-01-28	2005-10-04	2005-10-04	ENSG00000162426	ENSG00000162426		"""Solute carriers"""	17939	protein-coding gene	gene with protein product	"""H+/sugar symporter"""	605763	"""deleted in neuroblastoma 5"""	DNB5		10729226	Standard	XM_005263467		Approved		uc001apb.3	Q9Y2W3	OTTHUMG00000000503	ENST00000471889.1:c.1404C>T	1.37:g.8390957C>T						SLC45A1_ENST00000481265.1_3'UTR|SLC45A1_ENST00000289877.8_Silent_p.P468P|SLC45A1_ENST00000377479.2_Silent_p.P502P	p.P468P			Q9Y2W3	S45A1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)	5	1789	+	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)	468					Q5VY46|Q5VY49	Silent	SNP	ENST00000471889.1	37	c.1404C>T	CCDS30577.1																																																																																				0.607	SLC45A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001245.5			5	97	0	0	0	1	0	5	97				
MORN4	118812	broad.mit.edu	37	10	99376504	99376504	+	Missense_Mutation	SNP	C	C	T	rs181071367		TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr10:99376504C>T	ENST00000307450.6	-	4	386	c.223G>A	c.(223-225)Gga>Aga	p.G75R	PI4K2A_ENST00000555577.1_Intron|MORN4_ENST00000478953.1_Intron|MORN4_ENST00000335628.3_Missense_Mutation_p.G133R|PI4K2A_ENST00000370649.3_Intron	NM_001098831.1|NM_178832.3	NP_001092301.1|NP_849154.1	Q8NDC4	MORN4_HUMAN	MORN repeat containing 4	75										large_intestine(1)|lung(1)|stomach(2)	4						ATGAAGACTCCGACGCCATTA	0.473													C|||	1	0.000199681	0.0	0.0014	5008	,	,		19923	0.0		0.0	False		,,,				2504	0.0					ENST00000335628.3																			0				large_intestine(1)|lung(1)|stomach(2)	4						c.(397-399)Gga>Aga		MORN repeat containing 4							133.0	130.0	131.0					10																	99376504		2203	4300	6503	SO:0001583	missense	118812							g.chr10:99376504C>T	AJ431726	CCDS7468.1	10q24.2	2008-06-23	2008-06-23	2008-06-23	ENSG00000171160	ENSG00000171160			24001	protein-coding gene	gene with protein product	"""44050 protein"""		"""chromosome 10 open reading frame 83"""	C10orf83		12477932	Standard	NM_178832		Approved	bA548K23.4, FLJ25925	uc001koe.3	Q8NDC4	OTTHUMG00000018861	ENST00000307450.6:c.223G>A	10.37:g.99376504C>T	ENSP00000307636:p.Gly75Arg					MORN4_ENST00000478953.1_Intron|MORN4_ENST00000307450.6_Missense_Mutation_p.G75R|PI4K2A_ENST00000555577.1_Intron|PI4K2A_ENST00000370649.3_Intron	p.G133R			Q8NDC4	MORN4_HUMAN			3	396	-			75					Q86Y54	Missense_Mutation	SNP	ENST00000307450.6	37	c.397G>A	CCDS7468.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	27.2	4.808617	0.90707	.	.	ENSG00000171160	ENST00000307450;ENST00000515674;ENST00000335628	D;D	0.95885	-3.84;-3.84	5.71	4.81	0.61882	.	0.163302	0.56097	N	0.000040	D	0.98820	0.9602	H	0.99391	4.545	0.80722	D	1	P;D	0.89917	0.894;1.0	B;D	0.97110	0.215;1.0	D	0.98928	1.0786	10	0.87932	D	0	-23.3326	14.2508	0.66019	0.0:0.9291:0.0:0.0709	.	133;75	Q8NDC4-2;Q8NDC4	.;MORN4_HUMAN	R	75;75;133	ENSP00000307636:G75R;ENSP00000335498:G133R	ENSP00000307636:G75R	G	-	1	0	MORN4	99366494	1.000000	0.71417	0.918000	0.36340	0.987000	0.75469	7.729000	0.84864	1.419000	0.47118	0.561000	0.74099	GGA		0.473	MORN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049730.1	NM_178832		11	106	0	0	0	1	0	11	106				
ABCC4	10257	broad.mit.edu	37	13	95715069	95715069	+	Silent	SNP	G	G	A	rs11568652	byFrequency	TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr13:95715069G>A	ENST00000376887.4	-	26	3369	c.3255C>T	c.(3253-3255)atC>atT	p.I1085I	ABCC4_ENST00000412704.1_Silent_p.I1038I	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1085	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				blood coagulation (GO:0007596)|oxidation-reduction process (GO:0055114)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of smooth muscle cell proliferation (GO:0048661)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|response to organonitrogen compound (GO:0010243)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense granule membrane (GO:0031088)	15-hydroxyprostaglandin dehydrogenase (NAD+) activity (GO:0016404)|ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Adefovir Dipivoxil(DB00718)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Cefazolin(DB01327)|Celecoxib(DB00482)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprostone(DB00917)|Dipyridamole(DB00975)|Fluorouracil(DB00544)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Gadoxetate(DB08884)|Glutathione(DB00143)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Leucovorin(DB00650)|Meloxicam(DB00814)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Nateglinide(DB00731)|Oseltamivir(DB00198)|Probenecid(DB01032)|Rosuvastatin(DB01098)|Sildenafil(DB00203)|Sorafenib(DB00398)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tenofovir(DB00300)|Tioguanine(DB00352)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)|Zidovudine(DB00495)	AAAGGGCTGAGATGAGGGAAC	0.398																																						ENST00000376887.4																			0				breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						c.(3253-3255)atC>atT		ATP-binding cassette, sub-family C (CFTR/MRP), member 4	Cefazolin(DB01327)						81.0	82.0	81.0					13																	95715069		2203	4300	6503	SO:0001819	synonymous_variant	10257				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	g.chr13:95715069G>A	U66682	CCDS9474.1	13q31	2012-03-14			ENSG00000125257	ENSG00000125257		"""ATP binding cassette transporters / subfamily C"""	55	protein-coding gene	gene with protein product	"""canalicular multispecific organic anion transporter (ABC superfamily)"", ""bA464I2.1 (ATP-binding cassette, sub-family C (CFTR/MRP), member 4)"", ""multidrug resistance-associated protein 4"", ""multispecific organic anion transporter B"""	605250				8894702, 9661885	Standard	NM_005845		Approved	MRP4, EST170205, MOAT-B, MOATB	uc001vmd.4	O15439	OTTHUMG00000017216	ENST00000376887.4:c.3255C>T	13.37:g.95715069G>A						ABCC4_ENST00000412704.1_Silent_p.I1038I	p.I1085I	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN			26	3369	-	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		1085			ABC transporter 2.		A9Z1Z7|Q8IVZ4|Q8IZN6|Q8NEW8|Q9Y6J2	Silent	SNP	ENST00000376887.4	37	c.3255C>T	CCDS9474.1																																																																																				0.398	ABCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045478.2	NM_005845		6	60	0	0	0	1	0	6	60				
KIAA1586	57691	broad.mit.edu	37	6	56918134	56918134	+	Silent	SNP	A	A	G			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr6:56918134A>G	ENST00000370733.4	+	4	1044	c.837A>G	c.(835-837)gtA>gtG	p.V279V	KIAA1586_ENST00000545356.1_Silent_p.V252V	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	279							nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATGGAGAGGTAAATTGTTTAA	0.303																																						ENST00000370733.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18						c.(835-837)gtA>gtG		KIAA1586							33.0	36.0	35.0					6																	56918134		2196	4290	6486	SO:0001819	synonymous_variant	57691						nucleic acid binding	g.chr6:56918134A>G	AB046806	CCDS34480.1, CCDS69138.1	6p12.1	2014-03-27			ENSG00000168116	ENSG00000168116			21360	protein-coding gene	gene with protein product						10997877	Standard	NM_001286274		Approved		uc003pdj.3	Q9HCI6	OTTHUMG00000014915	ENST00000370733.4:c.837A>G	6.37:g.56918134A>G						KIAA1586_ENST00000545356.1_Silent_p.V252V	p.V279V	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)		4	1044	+	Lung NSC(77;0.0969)		279					A8K4M3|Q8IW25	Silent	SNP	ENST00000370733.4	37	c.837A>G	CCDS34480.1																																																																																				0.303	KIAA1586-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041033.1	NM_020931		4	43	0	0	0	1	0	4	43				
CEP162	22832	broad.mit.edu	37	6	84896094	84896094	+	Missense_Mutation	SNP	T	T	C			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr6:84896094T>C	ENST00000403245.3	-	12	1471	c.1357A>G	c.(1357-1359)Act>Gct	p.T453A	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.T377A	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		GAATTAACAGTTATTTTTTTC	0.294																																						ENST00000403245.3																			0				breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(1357-1359)Act>Gct		KIAA1009							72.0	76.0	75.0					6																	84896094		2202	4292	6494	SO:0001583	missense	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84896094T>C																												ENST00000403245.3:c.1357A>G	6.37:g.84896094T>C	ENSP00000385215:p.Thr453Ala					KIAA1009_ENST00000257766.4_Missense_Mutation_p.T377A|KIAA1009_ENST00000461137.1_5'UTR	p.T453A	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	12	1471	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)	453						Missense_Mutation	SNP	ENST00000403245.3	37	c.1357A>G	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	t	0.374	-0.932627	0.02359	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	T;T	0.16597	2.33;2.33	5.54	1.67	0.24075	.	0.195141	0.36893	N	0.002354	T	0.01061	0.0035	N	0.02011	-0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.42982	-0.9419	10	0.11485	T	0.65	-8.3741	1.2836	0.02046	0.5425:0.1525:0.1582:0.1468	.	453;453	Q5TB80;C9JFM9	QN1_HUMAN;.	A	377;453	ENSP00000257766:T377A;ENSP00000385215:T453A	ENSP00000257766:T377A	T	-	1	0	KIAA1009	84952813	0.001000	0.12720	0.049000	0.19019	0.012000	0.07955	-0.004000	0.12878	0.533000	0.28675	-1.037000	0.02385	ACT		0.294	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1			5	72	0	0	0	1	0	5	72				
DCAF4L2	138009	broad.mit.edu	37	8	88885613	88885613	+	Missense_Mutation	SNP	G	G	A			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr8:88885613G>A	ENST00000319675.3	-	1	683	c.587C>T	c.(586-588)gCg>gTg	p.A196V		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	196										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AGAGTGATACGCGTGGATGCT	0.557																																						ENST00000319675.3																			0				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						c.(586-588)gCg>gTg		DDB1 and CUL4 associated factor 4-like 2							166.0	147.0	153.0					8																	88885613		2203	4300	6503	SO:0001583	missense	138009							g.chr8:88885613G>A	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.587C>T	8.37:g.88885613G>A	ENSP00000316496:p.Ala196Val						p.A196V	NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN			1	683	-			196						Missense_Mutation	SNP	ENST00000319675.3	37	c.587C>T	CCDS6245.1	.	.	.	.	.	.	.	.	.	.	G	3.066	-0.192178	0.06299	.	.	ENSG00000176566	ENST00000319675	T	0.70631	-0.5	1.39	0.342	0.15996	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.277345	0.41938	D	0.000784	T	0.55081	0.1898	L	0.52364	1.645	0.09310	N	1	P	0.39352	0.669	B	0.36808	0.233	T	0.44483	-0.9325	10	0.23891	T	0.37	.	5.2186	0.15356	0.0:0.3721:0.6279:0.0	.	196	Q8NA75	DC4L2_HUMAN	V	196	ENSP00000316496:A196V	ENSP00000316496:A196V	A	-	2	0	DCAF4L2	88954729	1.000000	0.71417	0.000000	0.03702	0.009000	0.06853	2.161000	0.42358	-0.111000	0.12001	0.467000	0.42956	GCG		0.557	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		5	108	0	0	0	1	0	5	108				
CCDC141	285025	broad.mit.edu	37	2	179730612	179730612	+	Missense_Mutation	SNP	T	T	C	rs529827464		TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr2:179730612T>C	ENST00000420890.2	-	17	2723	c.2606A>G	c.(2605-2607)cAg>cGg	p.Q869R	CCDC141_ENST00000295723.5_Missense_Mutation_p.Q294R	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	869										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CAGCTGCTGCTGTAGGTTCTT	0.502													T|||	1	0.000199681	0.0	0.0	5008	,	,		20307	0.0		0.0	False		,,,				2504	0.001					ENST00000420890.2																			0				NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78						c.(2605-2607)cAg>cGg		coiled-coil domain containing 141							194.0	185.0	188.0					2																	179730612		2203	4300	6503	SO:0001583	missense	285025						protein binding	g.chr2:179730612T>C	AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000420890.2:c.2606A>G	2.37:g.179730612T>C	ENSP00000395995:p.Gln869Arg					CCDC141_ENST00000295723.5_Missense_Mutation_p.Q294R	p.Q869R	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)		17	2723	-			294			Ig-like.		H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	ENST00000420890.2	37	c.2606A>G		.	.	.	.	.	.	.	.	.	.	T	13.89	2.370683	0.42003	.	.	ENSG00000163492	ENST00000420890;ENST00000343876;ENST00000295723;ENST00000443758	T;T;T;T	0.48522	0.81;1.29;1.29;1.35	6.07	6.07	0.98685	.	0.113405	0.39407	N	0.001369	T	0.55689	0.1936	L	0.32530	0.975	0.29387	N	0.862892	D	0.69078	0.997	P	0.61132	0.884	T	0.55451	-0.8139	10	0.42905	T	0.14	-9.5868	16.6277	0.84984	0.0:0.0:0.0:1.0	.	294	Q6ZP82	CC141_HUMAN	R	869;313;294;869	ENSP00000395995:Q869R;ENSP00000344627:Q313R;ENSP00000295723:Q294R;ENSP00000390190:Q869R	ENSP00000295723:Q294R	Q	-	2	0	CCDC141	179438857	1.000000	0.71417	0.996000	0.52242	0.408000	0.30992	5.465000	0.66725	2.330000	0.79161	0.528000	0.53228	CAG		0.502	CCDC141-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_173648		6	173	0	0	0	1	0	6	173				
RYBP	23429	broad.mit.edu	37	3	72428576	72428576	+	Missense_Mutation	SNP	T	T	G			TCGA-EJ-A6RC-01A-11D-A32B-08	TCGA-EJ-A6RC-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	379affa6-98e2-459e-ac52-5ce57f69e2dd	bb8583d6-621a-4f59-87af-0a72dd30e1a6	g.chr3:72428576T>G	ENST00000477973.2	-	2	425	c.426A>C	c.(424-426)aaA>aaC	p.K142N		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0					apoptotic process (GO:0006915)|histone H2A monoubiquitination (GO:0035518)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		GATCCGAGGTTTTCTGAAATG	0.368																																						ENST00000477973.1																			0				prostate(1)|upper_aerodigestive_tract(1)	2						c.(424-426)aaA>aaC		RING1 and YY1 binding protein							56.0	53.0	54.0					3																	72428576		1825	4070	5895	SO:0001583	missense	23429				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr3:72428576T>G	AF179286		3p14.2	2008-07-18			ENSG00000163602	ENSG00000163602			10480	protein-coding gene	gene with protein product	"""YY1 and E4TF1 associated factor 1"", ""ring1 interactor RYBP"", ""apoptin-associating protein 1"", ""death effector domain-associated factor"""	607535				10369680	Standard	NM_012234		Approved	YEAF1, AAP1, DEDAF	uc003dpe.3	Q8N488	OTTHUMG00000159190	ENST00000477973.2:c.426A>C	3.37:g.72428576T>G	ENSP00000419494:p.Lys142Asn						p.K142N	NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)	2	425	-		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)	0					Q9P2W5|Q9UMW4	Missense_Mutation	SNP	ENST00000477973.2	37	c.426A>C		.	.	.	.	.	.	.	.	.	.	T	18.26	3.585630	0.66105	.	.	ENSG00000163602	ENST00000477973	.	.	.	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.74291	0.3697	M	0.69823	2.125	.	.	.	.	.	.	.	.	.	T	0.76208	-0.3043	5	.	.	.	-21.6665	16.3015	0.82820	0.0:0.0:0.0:1.0	.	.	.	.	N	142	.	.	K	-	3	2	RYBP	72511266	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	8.040000	0.89188	2.239000	0.73571	0.533000	0.62120	AAA		0.368	RYBP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353762.3	NM_012234		6	37	0	0	0	1	0	6	37				
