#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_BAM_File	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_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	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_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
AASDH	132949	broad.mit.edu;hgsc.bcm.edu	37	4	57204599	57204599	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr4:57204599C>T	ENST00000205214.6	-	15	3446	c.3266G>A	c.(3265-3267)tGt>tAt	p.C1089Y	AASDH_ENST00000451613.1_3'UTR|AASDH_ENST00000513376.1_Missense_Mutation_p.C989Y|AASDH_ENST00000434343.2_Missense_Mutation_p.C604Y	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	1089					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)	p.C1089Y(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TAAATCCAGACAATAAACATA	0.318																																																	1	Substitution - Missense(1)	kidney(1)											61.0	66.0	64.0					4																	57204599		2203	4299	6502	SO:0001583	missense	132949			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.3266G>A	4.37:g.57204599C>T	ENSP00000205214:p.Cys1089Tyr		A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	C	18.69	3.677789	0.68042	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000434343	T;T;T	0.57107	0.42;0.42;0.42	6.04	5.19	0.71726	Quinonprotein alcohol dehydrogenase-like (2);	0.133902	0.64402	D	0.000001	T	0.75968	0.3922	M	0.86178	2.8	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.81037	-0.1114	10	0.72032	D	0.01	-16.483	17.3805	0.87403	0.0:0.8751:0.1249:0.0	.	1089	Q4L235	ACSF4_HUMAN	Y	1089;989;604	ENSP00000205214:C1089Y;ENSP00000423760:C989Y;ENSP00000392158:C604Y	ENSP00000205214:C1089Y	C	-	2	0	AASDH	56899356	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.624000	0.61254	1.551000	0.49450	0.650000	0.86243	TGT		0.318	AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1		NM_181806	
ADAM15	8751	hgsc.bcm.edu;ucsc.edu	37	1	155028946	155028946	+	Splice_Site	SNP	G	G	A			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr1:155028946G>A	ENST00000356955.2	+	10	1100	c.999G>A	c.(997-999)atG>atA	p.M333I	ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000531455.1_Splice_Site_p.M343I|ADAM15_ENST00000355956.2_Splice_Site_p.M333I|ADAM15_ENST00000368412.3_Splice_Site_p.M333I|ADAM15_ENST00000447332.3_Splice_Site_p.M317I|ADAM15_ENST00000271836.6_Splice_Site_p.M333I|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000359280.4_Splice_Site_p.M333I|ADAM15_ENST00000360674.4_Splice_Site_p.M333I|ADAM15_ENST00000449910.2_Splice_Site_p.M333I	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	333	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				angiogenesis (GO:0001525)|cardiac epithelial to mesenchymal transition (GO:0060317)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of receptor binding (GO:1900121)|protein kinase C signaling (GO:0070528)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)	p.M333I(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GTGTGAACATGGTGAGTTATT	0.512																																																	1	Substitution - Missense(1)	kidney(1)											112.0	100.0	104.0					1																	155028946		2203	4300	6503	SO:0001630	splice_region_variant	8751			U46005	CCDS1084.1, CCDS1085.1, CCDS1086.1, CCDS1087.1, CCDS1088.1, CCDS44236.1, CCDS58031.1, CCDS58032.1, CCDS60282.1	1q21.3	2008-02-05	2007-06-04		ENSG00000143537	ENSG00000143537		"""ADAM metallopeptidase domain containing"""	193	protein-coding gene	gene with protein product	"""metargidin"""	605548	"""a disintegrin and metalloproteinase domain 15 (metargidin)"""			9516430	Standard	NM_003815		Approved	MDC15	uc001fgr.2	Q13444	OTTHUMG00000013898	ENST00000356955.2:c.999+1G>A	1.37:g.155028946G>A			B3KQU5|B4DLB5|B4DMH8|E9PN65|Q13493|Q53XQ0|Q5SR68|Q5SR69|Q6R267|Q71S61|Q71S62|Q71S63|Q71S64|Q71S65|Q71S66|Q71S67|Q71S68|Q71S69|Q96C78|U3KQL5	Missense_Mutation	SNP	ENST00000356955.2	37	CCDS1087.1	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872863	0.72180	.	.	ENSG00000143537	ENST00000356955;ENST00000449910;ENST00000359280;ENST00000360674;ENST00000368412;ENST00000355956;ENST00000271836;ENST00000531455	T;T;T;T;T;T;T;T	0.09350	2.99;2.99;2.99;2.99;2.99;2.99;2.99;2.99	5.11	5.11	0.69529	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.117378	0.38720	N	0.001592	T	0.16428	0.0395	L	0.48877	1.53	0.80722	D	1	P;P;P;P;D;P;P;P;D;P;P	0.56968	0.792;0.792;0.792;0.619;0.978;0.753;0.753;0.753;0.978;0.67;0.792	B;B;P;B;P;B;B;B;P;P;B	0.61003	0.411;0.411;0.516;0.381;0.882;0.288;0.288;0.288;0.832;0.516;0.411	T	0.00260	-1.1869	10	0.72032	D	0.01	.	16.0708	0.80928	0.0:0.0:1.0:0.0	.	343;350;317;333;333;333;333;333;333;333;330	E9PN65;B7Z390;B4DMH8;Q13444-10;Q13444-2;Q13444-4;Q13444-5;Q13444-3;Q13444-9;Q13444;Q59GF2	.;.;.;.;.;.;.;.;.;ADA15_HUMAN;.	I	333;333;333;333;333;333;333;343	ENSP00000349436:M333I;ENSP00000403843:M333I;ENSP00000352226:M333I;ENSP00000353892:M333I;ENSP00000357397:M333I;ENSP00000348227:M333I;ENSP00000271836:M333I;ENSP00000432927:M343I	ENSP00000271836:M333I	M	+	3	0	ADAM15	153295570	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.020000	0.76419	2.659000	0.90383	0.655000	0.94253	ATG		0.512	ADAM15-019	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000387168.1		NM_003815	Missense_Mutation
ADCY4	196883	broad.mit.edu;hgsc.bcm.edu	37	14	24801009	24801009	+	Silent	SNP	G	G	C	rs146843899		TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr14:24801009G>C	ENST00000310677.4	-	5	767	c.654C>G	c.(652-654)acC>acG	p.T218T	ADCY4_ENST00000396747.3_5'UTR|ADCY4_ENST00000418030.2_Silent_p.T218T|ADCY4_ENST00000558563.1_5'Flank|ADCY4_ENST00000554068.2_Silent_p.T218T	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	218					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)	p.T218T(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GCTTCTTCTCGGTGTCCAGCC	0.637																																																	1	Substitution - coding silent(1)	kidney(1)											23.0	26.0	25.0					14																	24801009		2203	4300	6503	SO:0001819	synonymous_variant	196883			AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.654C>G	14.37:g.24801009G>C			B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Silent	SNP	ENST00000310677.4	37	CCDS9627.1																																																																																				0.637	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073200.4			
AGBL1	123624	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	86940775	86940775	+	Silent	SNP	C	C	T			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr15:86940775C>T	ENST00000441037.2	+	17	2510	c.2415C>T	c.(2413-2415)ggC>ggT	p.G805G	AGBL1_ENST00000389298.3_Silent_p.G536G|AGBL1_ENST00000421325.2_Silent_p.G805G	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	805					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)	p.G805G(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TCATCAACGGCAAGTATGTCA	0.512																																																	1	Substitution - coding silent(1)	kidney(1)											142.0	138.0	139.0					15																	86940775		2073	4190	6263	SO:0001819	synonymous_variant	123624			AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.2415C>T	15.37:g.86940775C>T			A1A4X5|A6NJH6|C9JHL5	Silent	SNP	ENST00000441037.2	37	CCDS58398.1																																																																																				0.512	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5		NM_152336	
AHNAK	79026	broad.mit.edu;hgsc.bcm.edu	37	11	62288165	62288165	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr11:62288165T>G	ENST00000378024.4	-	5	13998	c.13724A>C	c.(13723-13725)aAa>aCa	p.K4575T	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4575					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)	p.K4575T(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCCCTTCAGTTTCCCTTCTGG	0.468																																																	1	Substitution - Missense(1)	kidney(1)											90.0	90.0	90.0					11																	62288165		2202	4299	6501	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.13724A>C	11.37:g.62288165T>G	ENSP00000367263:p.Lys4575Thr		A1A586	Missense_Mutation	SNP	ENST00000378024.4	37	CCDS31584.1	.	.	.	.	.	.	.	.	.	.	T	16.56	3.158320	0.57368	.	.	ENSG00000124942	ENST00000378024	T	0.01665	4.7	5.22	5.22	0.72569	.	0.126176	0.53938	D	0.000056	T	0.17238	0.0414	H	0.97940	4.11	0.44946	D	0.99796	D	0.69078	0.997	D	0.79784	0.993	T	0.12268	-1.0554	10	0.33940	T	0.23	.	11.6876	0.51497	0.0:0.0:0.1477:0.8523	.	4575	Q09666	AHNK_HUMAN	T	4575	ENSP00000367263:K4575T	ENSP00000367263:K4575T	K	-	2	0	AHNAK	62044741	0.557000	0.26546	0.995000	0.50966	0.950000	0.60333	1.199000	0.32235	1.972000	0.57404	0.519000	0.50382	AAA		0.468	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395572.1		NM_024060	
ANKRD20A4	728747	hgsc.bcm.edu	37	9	69393857	69393860	+	Frame_Shift_Del	DEL	TACT	TACT	-			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	TACT	TACT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr9:69393857_69393860delTACT	ENST00000357336.3	+	6	1054_1057	c.773_776delTACT	c.(772-777)atacttfs	p.IL258fs	RNU6-1193P_ENST00000459461.1_RNA	NM_001098805.1	NP_001092275.1	Q4UJ75	A20A4_HUMAN	ankyrin repeat domain 20 family, member A4	258										breast(1)|large_intestine(1)|liver(1)|lung(9)|pancreas(2)|skin(2)	16						AAAAAGAAGATACTTAAAAAGGAG	0.25																																																	0																																										SO:0001589	frameshift_variant	728747				CCDS43828.1	9q21.11	2013-01-10			ENSG00000172014	ENSG00000172014		"""Ankyrin repeat domain containing"""	31982	protein-coding gene	gene with protein product							Standard	NM_001098805		Approved	OTTHUMG00000066855	uc004afn.3	Q4UJ75	OTTHUMG00000066855	ENST00000357336.3:c.773_776delTACT	9.37:g.69393857_69393860delTACT	ENSP00000349891:p.Ile258fs			Frame_Shift_Del	DEL	ENST00000357336.3	37	CCDS43828.1																																																																																				0.250	ANKRD20A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143287.3		NM_001098805	
BCORL1	63035	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	129146951	129146951	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chrX:129146951G>C	ENST00000218147.7	+	4	400	c.203G>C	c.(202-204)gGc>gCc	p.G68A	BCORL1_ENST00000303743.5_Missense_Mutation_p.G68A|BCORL1_ENST00000540052.1_Missense_Mutation_p.G68A|BCORL1_ENST00000359304.2_Missense_Mutation_p.G68A			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	68					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.G68A(1)		breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GTTGGAAGTGGCAGCAATGCC	0.577																																																	1	Substitution - Missense(1)	kidney(1)											70.0	71.0	70.0					X																	129146951		2189	4266	6455	SO:0001583	missense	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.203G>C	X.37:g.129146951G>C	ENSP00000218147:p.Gly68Ala		B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	ENST00000218147.7	37	CCDS14616.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.146753	0.37923	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052	T;T;T;T	0.56275	0.49;0.85;0.47;0.49	5.28	5.28	0.74379	.	0.000000	0.36034	N	0.002832	T	0.35038	0.0918	N	0.19112	0.55	0.29738	N	0.837365	P	0.43024	0.798	B	0.36244	0.22	T	0.42515	-0.9447	10	0.52906	T	0.07	-16.0229	11.6018	0.51008	0.0837:0.0:0.9163:0.0	.	68	Q5H9F3	BCORL_HUMAN	A	68	ENSP00000218147:G68A;ENSP00000307541:G68A;ENSP00000352253:G68A;ENSP00000437775:G68A	ENSP00000218147:G68A	G	+	2	0	BCORL1	128974632	1.000000	0.71417	1.000000	0.80357	0.646000	0.38490	4.834000	0.62774	2.203000	0.70933	0.529000	0.55759	GGC		0.577	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058223.1		NM_021946	
C2CD3	26005	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	73825591	73825591	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr11:73825591T>C	ENST00000334126.7	-	10	1794	c.1568A>G	c.(1567-1569)cAa>cGa	p.Q523R	C2CD3_ENST00000313663.7_Missense_Mutation_p.Q523R			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	523					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)		p.Q523R(2)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TGTCATCGTTTGGGCATCTTC	0.453																																																	2	Substitution - Missense(2)	kidney(2)											169.0	141.0	150.0					11																	73825591		2200	4293	6493	SO:0001583	missense	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.1568A>G	11.37:g.73825591T>C	ENSP00000334379:p.Gln523Arg		C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Missense_Mutation	SNP	ENST00000334126.7	37		.	.	.	.	.	.	.	.	.	.	T	9.576	1.122433	0.20877	.	.	ENSG00000168014	ENST00000334126;ENST00000313663;ENST00000313681	T;T	0.09911	2.93;2.94	6.07	3.58	0.41010	.	0.448897	0.24691	N	0.036381	T	0.09024	0.0223	L	0.47716	1.5	0.09310	N	0.999992	P;P	0.38767	0.514;0.646	B;B	0.35353	0.068;0.201	T	0.24764	-1.0151	10	0.23302	T	0.38	-0.164	8.472	0.32991	0.0:0.0673:0.1748:0.7579	.	523;523	Q4AC94;Q4AC94-1	C2CD3_HUMAN;.	R	523	ENSP00000334379:Q523R;ENSP00000323339:Q523R	ENSP00000323339:Q523R	Q	-	2	0	C2CD3	73503239	0.899000	0.30636	0.770000	0.31555	0.251000	0.25915	1.227000	0.32576	0.407000	0.25591	0.528000	0.53228	CAA		0.453	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding			NM_015531	
RRP36	88745	broad.mit.edu	37	6	42989414	42989419	+	In_Frame_Del	DEL	GCCGGG	GCCGGG	-	rs200886831|rs551189349|rs199544375		TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	GCCGGG	GCCGGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr6:42989414_42989419delGCCGGG	ENST00000244496.5	+	1	32_37	c.22_27delGCCGGG	c.(22-27)gccgggdel	p.AG14del		NM_033112.2	NP_149103.1	Q96EU6	RRP36_HUMAN	ribosomal RNA processing 36 homolog (S. cerevisiae)	14					ribosomal small subunit biogenesis (GO:0042274)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.A8_G9delAG(2)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(5)|lung(1)|ovary(1)|prostate(1)	11						TAACTAccgcgccggggccggggccg	0.777																																																	2	Deletion - In frame(2)	prostate(1)|central_nervous_system(1)																																								SO:0001651	inframe_deletion	0			BC011933	CCDS34453.1	6p21.1	2010-07-06	2010-07-06	2010-07-06	ENSG00000124541	ENSG00000124541			21374	protein-coding gene	gene with protein product		613475	"""chromosome 6 open reading frame 153"""	C6orf153		20038530	Standard	NM_033112		Approved	dJ20C7.4	uc003otp.1	Q96EU6	OTTHUMG00000014715	ENST00000244496.5:c.22_27delGCCGGG	6.37:g.42989420_42989425delGCCGGG	ENSP00000244496:p.Ala14_Gly15del		Q9BRF6|Q9P0C8	In_Frame_Del	DEL	ENST00000244496.5	37	CCDS34453.1																																																																																				0.777	RRP36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040572.1		NM_033112	
ZBED6CL	113763	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	150027696	150027696	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr7:150027696G>A	ENST00000343855.4	+	1	759	c.203G>A	c.(202-204)cGc>cAc	p.R68H	LRRC61_ENST00000493307.1_Intron|LRRC61_ENST00000323078.7_Intron|LRRC61_ENST00000359623.4_Intron	NM_138434.2	NP_612443.1	Q96FA7	ZB6CL_HUMAN	ZBED6 C-terminal like	68								p.R68H(1)									CTCTTCTACCGCGAGGAGTTT	0.622																																																	1	Substitution - Missense(1)	kidney(1)											93.0	93.0	93.0					7																	150027696		2203	4300	6503	SO:0001583	missense	113763			BC011406	CCDS5900.1	7q35	2013-05-03	2013-05-03	2013-05-03	ENSG00000188707	ENSG00000188707			21720	protein-coding gene	gene with protein product		615252	"""chromosome 7 open reading frame 29"""	C7orf29		23533661	Standard	NM_138434		Approved			Q96FA7	OTTHUMG00000158328	ENST00000343855.4:c.203G>A	7.37:g.150027696G>A	ENSP00000343242:p.Arg68His			Missense_Mutation	SNP	ENST00000343855.4	37	CCDS5900.1	.	.	.	.	.	.	.	.	.	.	G	12.18	1.861353	0.32884	.	.	ENSG00000188707	ENST00000343855	.	.	.	3.75	-2.48	0.06423	.	4.453540	0.01642	U	0.024125	T	0.27731	0.0682	N	0.14661	0.345	0.09310	N	1	B	0.17465	0.022	B	0.14578	0.011	T	0.24584	-1.0156	9	0.38643	T	0.18	.	9.4051	0.38457	0.5655:0.0:0.4345:0.0	.	68	Q96FA7	CG029_HUMAN	H	68	.	ENSP00000343242:R68H	R	+	2	0	C7orf29	149658629	0.047000	0.20315	0.014000	0.15608	0.611000	0.37282	0.178000	0.16820	-0.483000	0.06772	-0.484000	0.04775	CGC		0.622	ZBED6CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350702.1		NM_138434	
C8orf34	116328	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	69351861	69351861	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr8:69351861G>A	ENST00000539993.1	+	2	746	c.197G>A	c.(196-198)tGg>tAg	p.W66*	C8orf34_ENST00000348340.2_Nonsense_Mutation_p.W66*|C8orf34_ENST00000337103.4_Nonsense_Mutation_p.W41*|C8orf34_ENST00000518698.1_Nonsense_Mutation_p.W152*|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000523686.1_Nonsense_Mutation_p.W66*			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	66								p.W66*(1)|p.W41*(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GCAGCTCTATGGGCAGAAAGT	0.368																																																	2	Substitution - Nonsense(2)	kidney(2)											72.0	70.0	71.0					8																	69351861		2203	4300	6503	SO:0001587	stop_gained	116328			AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.197G>A	8.37:g.69351861G>A	ENSP00000438159:p.Trp66*		A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Nonsense_Mutation	SNP	ENST00000539993.1	37		.	.	.	.	.	.	.	.	.	.	G	43	10.369597	0.99392	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000523686;ENST00000348340;ENST00000337103	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-6.3956	20.2189	0.98312	0.0:0.0:1.0:0.0	.	.	.	.	X	152;66;66;66;41	.	.	W	+	2	0	C8orf34	69514415	1.000000	0.71417	1.000000	0.80357	0.921000	0.55340	9.402000	0.97298	2.779000	0.95612	0.650000	0.86243	TGG		0.368	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding			NM_052958	
CDCP2	200008	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	54605450	54605450	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr1:54605450C>T	ENST00000371330.1	-	4	1940	c.1093G>A	c.(1093-1095)Ggc>Agc	p.G365S	RP11-446E24.4_ENST00000525949.1_5'Flank|CDCP2_ENST00000530059.1_5'UTR	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	365	CUB 3. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)		p.G365S(1)		kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						ACAGAGAAGCCCCTGCGGGTG	0.622																																																	1	Substitution - Missense(1)	kidney(1)											48.0	52.0	51.0					1																	54605450		2203	4300	6503	SO:0001583	missense	200008				CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.1093G>A	1.37:g.54605450C>T	ENSP00000360381:p.Gly365Ser		Q6ZWJ3	Missense_Mutation	SNP	ENST00000371330.1	37	CCDS588.2	.	.	.	.	.	.	.	.	.	.	C	35	5.586439	0.96578	.	.	ENSG00000157211	ENST00000371330	T	0.33438	1.41	5.59	5.59	0.84812	CUB (5);	0.000000	0.85682	D	0.000000	T	0.71467	0.3343	H	0.96691	3.865	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.81540	-0.0886	10	0.72032	D	0.01	-30.0741	19.6574	0.95849	0.0:1.0:0.0:0.0	.	365	Q5VXM1	CDCP2_HUMAN	S	365	ENSP00000360381:G365S	ENSP00000360381:G365S	G	-	1	0	CDCP2	54378038	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	7.620000	0.83070	2.651000	0.90000	0.456000	0.33151	GGC		0.622	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2		NM_201546	
CLYBL	171425	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	100511253	100511253	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr13:100511253C>A	ENST00000376360.1	+	3	415	c.388C>A	c.(388-390)Cct>Act	p.P130T	CLYBL_ENST00000376354.1_Missense_Mutation_p.P130T|CLYBL_ENST00000339105.4_Missense_Mutation_p.P130T|CLYBL_ENST00000376355.3_Missense_Mutation_p.P130T|CLYBL_ENST00000444838.2_Missense_Mutation_p.P130T			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	130						mitochondrion (GO:0005739)	lyase activity (GO:0016829)|metal ion binding (GO:0046872)	p.P130T(1)		NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCGGGTCCTTCCTTCCAGCCT	0.498																																																	1	Substitution - Missense(1)	kidney(1)											72.0	67.0	69.0					13																	100511253		2203	4300	6503	SO:0001583	missense	171425			AF428253	CCDS32002.1	13q32.3	2011-04-08			ENSG00000125246	ENSG00000125246			18355	protein-coding gene	gene with protein product		609686					Standard	XM_005254030		Approved	CLB	uc001vok.3	Q8N0X4	OTTHUMG00000017278	ENST00000376360.1:c.388C>A	13.37:g.100511253C>A	ENSP00000365538:p.Pro130Thr		Q5W0F7|Q8TDH8	Missense_Mutation	SNP	ENST00000376360.1	37	CCDS32002.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.827894	0.90955	.	.	ENSG00000125246	ENST00000376355;ENST00000376360;ENST00000444838;ENST00000376354;ENST00000339105;ENST00000416504;ENST00000443887	T;T;T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53;1.53;1.53	5.91	5.91	0.95273	Aldehyde-lyase domain (1);Pyruvate/Phosphoenolpyruvate kinase (2);	0.000000	0.85682	D	0.000000	T	0.65396	0.2687	M	0.89353	3.025	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.69975	-0.4999	10	0.72032	D	0.01	9.0E-4	20.2985	0.98592	0.0:1.0:0.0:0.0	.	130;130;130	B4DU60;Q8N0X4-2;Q8N0X4	.;.;CLYBL_HUMAN	T	130;130;130;130;130;47;47	ENSP00000365533:P130T;ENSP00000365538:P130T;ENSP00000404768:P130T;ENSP00000365532:P130T;ENSP00000342991:P130T;ENSP00000403408:P47T;ENSP00000401586:P47T	ENSP00000342991:P130T	P	+	1	0	CLYBL	99309254	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.793000	0.96121	0.655000	0.94253	CCT		0.498	CLYBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045611.1			
COL6A2	1292	broad.mit.edu;hgsc.bcm.edu	37	21	47531392	47531392	+	Start_Codon_SNP	SNP	T	T	C			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr21:47531392T>C	ENST00000300527.4	+	2	106	c.2T>C	c.(1-3)aTg>aCg	p.M1T	COL6A2_ENST00000409416.1_Start_Codon_SNP_p.M1T|COL6A2_ENST00000357838.4_Start_Codon_SNP_p.M1T|COL6A2_ENST00000397763.1_Start_Codon_SNP_p.M1T|COL6A2_ENST00000310645.5_Start_Codon_SNP_p.M1T	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	1					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)		p.M1T(3)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GCTGCCAAGATGCTCCAGGGC	0.672																																																	3	Substitution - Missense(3)	kidney(3)											31.0	31.0	31.0					21																	47531392		2203	4300	6503	SO:0001582	initiator_codon_variant	1292			M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2T>C	21.37:g.47531392T>C	ENSP00000300527:p.Met1Thr		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	T	13.04	2.118210	0.37339	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000436769;ENST00000409416;ENST00000397763	D;D;D;T;D;D	0.90069	-2.52;-2.57;-2.61;-1.2;-2.61;-2.57	4.25	4.25	0.50352	.	0.468291	0.20883	N	0.083966	D	0.91734	0.7386	.	.	.	0.80722	D	1	B;P;P	0.47253	0.435;0.892;0.892	B;P;P	0.55345	0.101;0.774;0.774	D	0.92057	0.5653	9	0.87932	D	0	-22.89	10.0599	0.42268	0.0:0.0:0.0:1.0	.	1;1;1	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	T	1	ENSP00000300527:M1T;ENSP00000350497:M1T;ENSP00000312529:M1T;ENSP00000390418:M1T;ENSP00000387115:M1T;ENSP00000380870:M1T	ENSP00000300527:M1T	M	+	2	0	COL6A2	46355820	1.000000	0.71417	0.358000	0.25811	0.161000	0.22273	1.481000	0.35476	1.697000	0.51169	0.533000	0.62120	ATG		0.672	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			Missense_Mutation
DNAH11	8701	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	21789334	21789334	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr7:21789334G>C	ENST00000409508.3	+	53	8743	c.8712G>C	c.(8710-8712)aaG>aaC	p.K2904N	DNAH11_ENST00000328843.6_Missense_Mutation_p.K2911N	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2911	AAA 4. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.K2911N(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTGGAGCCAAGAACATGCCCA	0.468									Kartagener syndrome																																								1	Substitution - Missense(1)	kidney(1)											113.0	111.0	111.0					7																	21789334		2067	4220	6287	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.8712G>C	7.37:g.21789334G>C	ENSP00000475939:p.Lys2904Asn		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37		.	.	.	.	.	.	.	.	.	.	G	19.69	3.874721	0.72180	.	.	ENSG00000105877	ENST00000328843	T	0.56103	0.48	5.43	3.6	0.41247	Dynein heavy chain, P-loop containing D4 domain (1);ATPase, AAA+ type, core (1);	0.090124	0.85682	D	0.000000	T	0.69459	0.3113	.	.	.	0.51233	D	0.999916	D	0.69078	0.997	D	0.66602	0.945	T	0.70868	-0.4755	9	0.52906	T	0.07	.	12.5797	0.56383	0.1241:0.0:0.8759:0.0	.	2911	Q96DT5	DYH11_HUMAN	N	2911	ENSP00000330671:K2911N	ENSP00000330671:K2911N	K	+	3	2	DNAH11	21755859	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.591000	0.67536	0.640000	0.30582	0.655000	0.94253	AAG		0.468	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6		NM_003777	
EMILIN3	90187	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	39990048	39990048	+	Silent	SNP	T	T	G			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr20:39990048T>G	ENST00000332312.3	-	4	2353	c.2161A>C	c.(2161-2163)Aga>Cga	p.R721R		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	721						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)		p.R721R(1)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				AGGCCCTCTCTGGGCCTCAGT	0.667																																																	1	Substitution - coding silent(1)	kidney(1)											35.0	28.0	31.0					20																	39990048		2203	4300	6503	SO:0001819	synonymous_variant	90187			AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"""EMI domain containing"""	16123	protein-coding gene	gene with protein product	"""chromosome 20 open reading frame 130"""	608929	"""elastin microfibril interfacer 5"""	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.2161A>C	20.37:g.39990048T>G			Q495S5|Q495S6|Q495S7|Q76KT4	Silent	SNP	ENST00000332312.3	37	CCDS13316.1																																																																																				0.667	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2		XM_029741	
FBXL19	54620	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	30939867	30939867	+	Missense_Mutation	SNP	C	C	T	rs202132610		TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr16:30939867C>T	ENST00000380310.2	+	6	925	c.767C>T	c.(766-768)cCg>cTg	p.P256L	FBXL19_ENST00000471231.2_5'UTR|FBXL19_ENST00000562319.1_Missense_Mutation_p.P236L|FBXL19_ENST00000338343.4_Missense_Mutation_p.P236L|FBXL19_ENST00000565690.1_Intron	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	256	Pro-rich.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.P256L(1)		breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CCAGGCGGCCCGGGCCTGCTG	0.667													c|||	1	0.000199681	0.0	0.0014	5008	,	,		11352	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	kidney(1)											19.0	23.0	22.0					16																	30939867		1881	4106	5987	SO:0001583	missense	54620			AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"""F-boxes / Leucine-rich repeats"""	25300	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1C"""	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403	ENST00000380310.2:c.767C>T	16.37:g.30939867C>T	ENSP00000369666:p.Pro256Leu		A8MT10|Q8N789|Q9NT14	Missense_Mutation	SNP	ENST00000380310.2	37	CCDS45465.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	c	18.32	3.597016	0.66332	.	.	ENSG00000099364	ENST00000338343;ENST00000380310	T;T	0.21734	1.99;2.31	5.03	5.03	0.67393	.	1.074330	0.07294	N	0.872948	T	0.12178	0.0296	N	0.08118	0	0.38427	D	0.946341	P	0.37083	0.581	B	0.30316	0.114	T	0.19943	-1.0290	10	0.28530	T	0.3	-10.173	13.8779	0.63665	0.0:1.0:0.0:0.0	.	256	Q6PCT2	FXL19_HUMAN	L	236;256	ENSP00000339712:P236L;ENSP00000369666:P256L	ENSP00000339712:P236L	P	+	2	0	FBXL19	30847368	0.158000	0.22850	0.957000	0.39632	0.982000	0.71751	0.764000	0.26532	2.344000	0.79699	0.479000	0.44913	CCG		0.667	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_019085	
HTT	3064	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	3208255	3208255	+	Silent	SNP	G	G	T			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr4:3208255G>T	ENST00000355072.5	+	43	5896	c.5751G>T	c.(5749-5751)acG>acT	p.T1917T		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	1917					anterior/posterior pattern specification (GO:0009952)|axon cargo transport (GO:0008088)|cell aging (GO:0007569)|citrulline metabolic process (GO:0000052)|determination of adult lifespan (GO:0008340)|dopamine receptor signaling pathway (GO:0007212)|endoplasmic reticulum organization (GO:0007029)|endosomal transport (GO:0016197)|ER to Golgi vesicle-mediated transport (GO:0006888)|establishment of mitotic spindle orientation (GO:0000132)|Golgi organization (GO:0007030)|grooming behavior (GO:0007625)|hormone metabolic process (GO:0042445)|insulin secretion (GO:0030073)|iron ion homeostasis (GO:0055072)|L-glutamate import (GO:0051938)|lactate biosynthetic process from pyruvate (GO:0019244)|locomotory behavior (GO:0007626)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|neural plate formation (GO:0021990)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|olfactory lobe development (GO:0021988)|organ development (GO:0048513)|paraxial mesoderm formation (GO:0048341)|positive regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031587)|protein import into nucleus (GO:0006606)|quinolinate biosynthetic process (GO:0019805)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of protein phosphatase type 2A activity (GO:0034047)|regulation of synaptic plasticity (GO:0048167)|response to calcium ion (GO:0051592)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|social behavior (GO:0035176)|spermatogenesis (GO:0007283)|striatum development (GO:0021756)|urea cycle (GO:0000050)|vesicle transport along microtubule (GO:0047496)|visual learning (GO:0008542)	autophagic vacuole (GO:0005776)|axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	beta-tubulin binding (GO:0048487)|diazepam binding (GO:0050809)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|p53 binding (GO:0002039)|transcription factor binding (GO:0008134)	p.T1917T(1)		breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AGCACTTAACGTGGCTCATTG	0.453																																																	1	Substitution - coding silent(1)	kidney(1)											102.0	98.0	99.0					4																	3208255		1965	4160	6125	SO:0001819	synonymous_variant	3064			L12392	CCDS43206.1	4p16.3	2014-09-17	2007-12-04	2007-12-04	ENSG00000197386	ENSG00000197386		"""Endogenous ligands"""	4851	protein-coding gene	gene with protein product		613004	"""huntingtin (Huntington disease)"""	HD		8458085	Standard	NM_002111		Approved	IT15	uc021xkv.1	P42858	OTTHUMG00000159916	ENST00000355072.5:c.5751G>T	4.37:g.3208255G>T			Q9UQB7	Silent	SNP	ENST00000355072.5	37	CCDS43206.1																																																																																				0.453	HTT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358234.2		NM_002111	
IPO11	51194	broad.mit.edu;ucsc.edu	37	5	61779841	61779841	+	Silent	SNP	C	C	T			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr5:61779841C>T	ENST00000325324.6	+	11	1195	c.1026C>T	c.(1024-1026)agC>agT	p.S342S	KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Silent_p.S382S	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	342					ribosomal protein import into nucleus (GO:0006610)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)	p.S342S(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		TTCTAGATAGCAGCCCTGAAA	0.318																																																	1	Substitution - coding silent(1)	kidney(1)											61.0	64.0	63.0					5																	61779841		2203	4296	6499	SO:0001819	synonymous_variant	51194			AF111109	CCDS34167.1, CCDS47217.1	5q12.1	2008-09-19			ENSG00000086200	ENSG00000086200		"""Importins"""	20628	protein-coding gene	gene with protein product		610889					Standard	NM_016338		Approved	RanBP11	uc011cqr.2	Q9UI26	OTTHUMG00000154400	ENST00000325324.6:c.1026C>T	5.37:g.61779841C>T			A6NGJ5|B4DZ73|D3DW98|Q8N5R2|Q9NSJ6|Q9NVB1	Silent	SNP	ENST00000325324.6	37	CCDS34167.1																																																																																				0.318	IPO11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335062.1		NM_016338	
KDM5C	8242	broad.mit.edu;hgsc.bcm.edu	37	X	53227751	53227751	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chrX:53227751G>A	ENST00000375401.3	-	17	2969	c.2437C>T	c.(2437-2439)Cag>Tag	p.Q813*	KDM5C_ENST00000465402.1_5'Flank|KDM5C_ENST00000452825.3_Nonsense_Mutation_p.Q746*|KDM5C_ENST00000375383.3_Nonsense_Mutation_p.Q772*|KDM5C_ENST00000404049.3_Nonsense_Mutation_p.Q812*|KDM5C_ENST00000375379.3_Nonsense_Mutation_p.Q813*	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	813					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.Q746*(1)|p.Q813*(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TTTAGTTGCTGCAGCAGCTCA	0.552			"""N, F, S"""		clear cell renal carcinoma																																			Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	2	Substitution - Nonsense(2)	kidney(2)											41.0	35.0	37.0					X																	53227751		2203	4300	6503	SO:0001587	stop_gained	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.2437C>T	X.37:g.53227751G>A	ENSP00000364550:p.Gln813*		B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Nonsense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	G	45	11.894446	0.99615	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	.	.	.	4.84	4.84	0.62591	.	0.055368	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-22.3792	14.6993	0.69145	0.0:0.0:1.0:0.0	.	.	.	.	X	746;813;812;813;772	.	ENSP00000364528:Q813X	Q	-	1	0	KDM5C	53244476	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.755000	0.55197	2.140000	0.66376	0.594000	0.82650	CAG		0.552	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2		NM_004187	
ZSWIM8	23053	broad.mit.edu	37	10	75551975	75551975	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr10:75551975C>A	ENST00000605216.1	+	10	1895	c.1678C>A	c.(1678-1680)Cag>Aag	p.Q560K	ZSWIM8_ENST00000604729.1_Missense_Mutation_p.Q560K|ZSWIM8_ENST00000604524.1_Missense_Mutation_p.Q560K|ZSWIM8_ENST00000603114.1_Missense_Mutation_p.Q560K|ZSWIM8_ENST00000431225.1_3'UTR|ZSWIM8_ENST00000398706.2_Missense_Mutation_p.Q560K	NM_001242487.1	NP_001229416.1	A7E2V4	ZSWM8_HUMAN	zinc finger, SWIM-type containing 8	560	Gly-rich.						zinc ion binding (GO:0008270)	p.Q560K(2)									CCCCTCATCACAGCGGGGTCC	0.662																																																	2	Substitution - Missense(2)	kidney(2)											16.0	18.0	17.0					10																	75551975		1823	3975	5798	SO:0001583	missense	0			BC151206, BC040726	CCDS44440.1, CCDS60560.1	10q22.3	2012-11-02	2012-11-02	2012-11-02	ENSG00000214655	ENSG00000214655		"""Zinc fingers, SWIM-type"""	23528	protein-coding gene	gene with protein product			"""KIAA0913"""	KIAA0913			Standard	NM_015037		Approved	4832404P21Rik	uc001jvj.3	A7E2V4	OTTHUMG00000018486	ENST00000605216.1:c.1678C>A	10.37:g.75551975C>A	ENSP00000474748:p.Gln560Lys		B2RP37|O94987|Q17RS8|Q2TAB8|Q6P439|Q8IW81|Q8NB34|Q9H8F3	Missense_Mutation	SNP	ENST00000605216.1	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	21.2|21.2|21.2	4.105986|4.105986|4.105986	0.77096|0.77096|0.77096	.|.|.	.|.|.	ENSG00000214655|ENSG00000214655|ENSG00000214655	ENST00000431225|ENST00000398706|ENST00000433366	.|T|.	.|0.44881|.	.|0.91|.	5.55|5.55|5.55	5.55|5.55|5.55	0.83447|0.83447|0.83447	.|.|.	.|0.945278|.	.|0.08616|.	.|U|.	.|0.919167|.	T|T|T	0.56455|0.56455|0.56455	0.1986|0.1986|0.1986	N|N|N	0.22421|0.22421|0.22421	0.69|0.69|0.69	0.44409|0.44409|0.44409	D|D|D	0.997325|0.997325|0.997325	.|B;B;B|.	.|0.31290|.	.|0.318;0.318;0.318|.	.|B;B;B|.	.|0.35278|.	.|0.142;0.199;0.142|.	T|T|T	0.48186|0.48186|0.48186	-0.9057|-0.9057|-0.9057	5|10|5	.|0.17369|.	.|T|.	.|0.5|.	-6.9219|-6.9219|-6.9219	19.6982|19.6982|19.6982	0.96039|0.96039|0.96039	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|560;560;560|.	.|A7E2V4;A7E2V4-5;A7E2V4-4|.	.|K0913_HUMAN;.;.|.	Q|K|K	56|560|282	.|ENSP00000381693:Q560K|.	.|ENSP00000381693:Q560K|.	H|Q|T	+|+|+	3|1|2	2|0|0	KIAA0913|KIAA0913|KIAA0913	75221981|75221981|75221981	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.972000|0.972000|0.972000	0.41901|0.41901|0.41901	0.897000|0.897000|0.897000	0.52465|0.52465|0.52465	5.770000|5.770000|5.770000	0.68873|0.68873|0.68873	2.894000|2.894000|2.894000	0.99253|0.99253|0.99253	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	CAC|CAG|ACA		0.662	ZSWIM8-012	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000468545.1		NM_001242487	
NFYC	4802	hgsc.bcm.edu	37	1	41222991	41222991	+	Intron	SNP	C	C	G			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr1:41222991C>G	ENST00000308733.5	+	5	393				NFYC_ENST00000372653.1_Intron|NFYC_ENST00000372654.1_Intron|NFYC_ENST00000456393.2_Intron|NFYC_ENST00000427410.2_Intron|NFYC_ENST00000372651.1_Intron|MIR30E_ENST00000362104.1_RNA|NFYC_ENST00000425457.2_Intron|NFYC_ENST00000440226.3_Intron|MIR30C1_ENST00000385227.1_RNA|NFYC_ENST00000372652.1_Intron|NFYC_ENST00000447388.3_Intron			Q13952	NFYC_HUMAN	nuclear transcription factor Y, gamma						cellular lipid metabolic process (GO:0044255)|positive regulation of transcription, DNA-templated (GO:0045893)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	CCAAT-binding factor complex (GO:0016602)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)|skin(2)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.72e-17)			CCTACACTCTCAGCTGTGAGC	0.537																																																	0													102.0	89.0	93.0					1																	41222991		1568	3582	5150	SO:0001627	intron_variant	407031			U78774	CCDS455.1, CCDS44120.1, CCDS44121.1, CCDS44122.1, CCDS44123.1	1p32	2008-11-11			ENSG00000066136	ENSG00000066136			7806	protein-coding gene	gene with protein product		605344				8921405, 9249075	Standard	NM_014223		Approved	CBF-C, NF-YC	uc009vwd.3	Q13952	OTTHUMG00000007729	ENST00000308733.5:c.388-802C>G	1.37:g.41222991C>G			B4DUS6|B4DW63|D3DPV9|F8VWM3|Q59GY4|Q5T6K8|Q5T6K9|Q5T6L1|Q5TZR6|Q92869|Q9HBX1|Q9NXB5|Q9UM67|Q9UML0|Q9UMT7	RNA	SNP	ENST00000308733.5	37																																																																																					0.537	NFYC-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000020802.1		NM_014223	
LBR	3930	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	225599096	225599096	+	Silent	SNP	T	T	A			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr1:225599096T>A	ENST00000338179.2	-	9	1256	c.1131A>T	c.(1129-1131)cgA>cgT	p.R377R	AC092811.1_ENST00000366845.2_5'Flank|LBR_ENST00000272163.4_Silent_p.R377R	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	377					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)	p.R377R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		AAGTACCAATTCGAGGGTTTA	0.393																																																	1	Substitution - coding silent(1)	kidney(1)											115.0	122.0	119.0					1																	225599096		2203	4300	6503	SO:0001819	synonymous_variant	3930			L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"""Tudor domain containing"""	6518	protein-coding gene	gene with protein product	"""tudor domain containing 18"""	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.1131A>T	1.37:g.225599096T>A			B2R5P3|Q14740|Q53GU7|Q59FE6	Silent	SNP	ENST00000338179.2	37	CCDS1545.1																																																																																				0.393	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091398.1		NM_002296	
KAT8	84148	broad.mit.edu;hgsc.bcm.edu	37	16	31141808	31141808	+	Silent	SNP	C	C	T			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr16:31141808C>T	ENST00000543774.2	+	10	1373	c.1038C>T	c.(1036-1038)gtC>gtT	p.V346V	KAT8_ENST00000448516.2_Silent_p.V346V|RP11-388M20.2_ENST00000563605.1_RNA|KAT8_ENST00000219797.4_Silent_p.V346V			Q9H7Z6	KAT8_HUMAN	K(lysine) acetyltransferase 8	346	MYST-type HAT.|Sufficient for interaction with KANSL1.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|myeloid cell differentiation (GO:0030099)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	histone acetyltransferase complex (GO:0000123)|kinetochore (GO:0000776)|MLL1 complex (GO:0071339)|MSL complex (GO:0072487)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|methylated histone binding (GO:0035064)|transcription factor binding (GO:0008134)	p.V346V(1)									AGAGCACAGTCGGCTCCCCGG	0.627																																																	1	Substitution - coding silent(1)	kidney(1)											29.0	31.0	31.0					16																	31141808		2197	4300	6497	SO:0001819	synonymous_variant	0			AF217501	CCDS10706.1, CCDS45468.1	16p11.1	2013-01-10	2011-07-21	2011-07-21	ENSG00000103510	ENSG00000103510	2.3.1.48	"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"""	17933	protein-coding gene	gene with protein product		609912	"""MYST histone acetyltransferase 1"""	MYST1		10786633	Standard	NM_032188		Approved	MOF, FLJ14040, hMOF, ZC2HC8	uc002eax.3	Q9H7Z6	OTTHUMG00000132410	ENST00000543774.2:c.1038C>T	16.37:g.31141808C>T			A8K4Z1|G5E9P2|Q659G0|Q7LC17|Q8IY59|Q8WYB4|Q8WZ14|Q9HAC5|Q9NR35	Silent	SNP	ENST00000543774.2	37	CCDS10706.1																																																																																				0.627	KAT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000255546.3		NM_032188	
NDFIP2	54602	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	80094986	80094986	+	Silent	SNP	G	G	A			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr13:80094986G>A	ENST00000218652.7	+	2	415	c.363G>A	c.(361-363)gaG>gaA	p.E121E	NDFIP2_ENST00000494647.1_3'UTR	NM_001161407.1|NM_019080.2	NP_001154879.1|NP_061953.2	Q9NV92	NFIP2_HUMAN	Nedd4 family interacting protein 2	121					negative regulation of gene expression (GO:0010629)|negative regulation of protein transport (GO:0051224)|negative regulation of transporter activity (GO:0032410)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of protein ubiquitination (GO:0031398)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)	signal transducer activity (GO:0004871)|WW domain binding (GO:0050699)	p.E121E(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0196)		CGGCTATAGAGCAGCCACCTA	0.383																																																	1	Substitution - coding silent(1)	kidney(1)											84.0	78.0	80.0					13																	80094986		2203	4300	6503	SO:0001819	synonymous_variant	54602			AB032991	CCDS31998.1	13q22.1	2011-05-18			ENSG00000102471	ENSG00000102471			18537	protein-coding gene	gene with protein product		610041				10574461, 12050153	Standard	NM_019080		Approved	KIAA1165, N4wbp5a	uc001vlf.3	Q9NV92	OTTHUMG00000017136	ENST00000218652.7:c.363G>A	13.37:g.80094986G>A			Q7Z2H3|Q7Z428|Q8TAR3|Q9ULQ5	Silent	SNP	ENST00000218652.7	37	CCDS31998.1																																																																																				0.383	NDFIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045380.2			
NEB	4703	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	152548582	152548582	+	Silent	SNP	T	T	C			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr2:152548582T>C	ENST00000172853.10	-	22	2244	c.2097A>G	c.(2095-2097)caA>caG	p.Q699Q	NEB_ENST00000603639.1_Silent_p.Q699Q|NEB_ENST00000427231.2_Silent_p.Q699Q|NEB_ENST00000604864.1_Silent_p.Q699Q|NEB_ENST00000397345.3_Silent_p.Q699Q|NEB_ENST00000409198.1_Silent_p.Q699Q			P20929	NEBU_HUMAN	nebulin	699					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)	p.Q699Q(2)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATCACTGTTTTGAGCTGCAA	0.373																																																	2	Substitution - coding silent(2)	kidney(2)											176.0	165.0	168.0					2																	152548582		1978	4166	6144	SO:0001819	synonymous_variant	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.2097A>G	2.37:g.152548582T>C			F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Silent	SNP	ENST00000172853.10	37																																																																																					0.373	NEB-201	KNOWN	basic	protein_coding	protein_coding			NM_004543	
PCDHB7	56129	broad.mit.edu;hgsc.bcm.edu	37	5	140553992	140553992	+	Missense_Mutation	SNP	G	G	T	rs146429251	byFrequency	TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr5:140553992G>T	ENST00000231137.3	+	1	1750	c.1576G>T	c.(1576-1578)Gcg>Tcg	p.A526S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	526	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.A526S(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCCCTGCAGGCGTTCGAGTT	0.706																																																	1	Substitution - Missense(1)	kidney(1)											64.0	70.0	68.0					5																	140553992		2203	4300	6503	SO:0001583	missense	56129			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1576G>T	5.37:g.140553992G>T	ENSP00000231137:p.Ala526Ser		A1L3Y8	Missense_Mutation	SNP	ENST00000231137.3	37	CCDS4249.1	.	.	.	.	.	.	.	.	.	.	g	10.28	1.306552	0.23736	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.03094	4.05	4.34	3.44	0.39384	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.04679	0.0127	N	0.11427	0.14	0.09310	N	1	P	0.49559	0.925	P	0.56648	0.803	T	0.50634	-0.8805	9	0.22706	T	0.39	.	9.7108	0.40245	0.0868:0.1448:0.7684:0.0	.	526	Q9Y5E2	PCDB7_HUMAN	S	526;309	ENSP00000231137:A526S	ENSP00000231137:A526S	A	+	1	0	PCDHB7	140534176	0.005000	0.15991	0.402000	0.26371	0.628000	0.37860	1.344000	0.33941	2.112000	0.64535	0.552000	0.68991	GCG		0.706	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251803.2		NM_018940	
PHF1	5252	hgsc.bcm.edu;ucsc.edu	37	6	33382506	33382507	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr6:33382506_33382507insT	ENST00000374516.3	+	11	1220_1221	c.949_950insT	c.(949-951)attfs	p.I317fs	PHF1_ENST00000374512.3_Frame_Shift_Ins_p.I317fs	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	317					cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of histone H3-K27 methylation (GO:0061087)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	methylated histone binding (GO:0035064)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CCCCAGTTTCATTTCAGGGAGA	0.49											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001589	frameshift_variant	5252			AF029678	CCDS4777.1, CCDS4778.1	6p21.3	2013-01-28			ENSG00000112511	ENSG00000112511		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	8919	protein-coding gene	gene with protein product	"""tudor domain containing 19C"""	602881				9545646, 18385154	Standard	NM_024165		Approved	MTF2L2, TDRD19C	uc003oeh.3	O43189	OTTHUMG00000031105	ENST00000374516.3:c.952dupT	6.37:g.33382509_33382509dupT	ENSP00000363640:p.Ile317fs	839	B1AZX2|B1AZX3|O60929|Q5SU07|Q5SU08|Q96KM7	Frame_Shift_Ins	INS	ENST00000374516.3	37	CCDS4777.1																																																																																				0.490	PHF1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076175.3			
PRIM2	5558	broad.mit.edu;hgsc.bcm.edu	37	6	57498975	57498975	+	3'UTR	SNP	T	T	C			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr6:57498975T>C	ENST00000389488.2	+	0	1326				PRIM2_ENST00000607273.1_3'UTR			P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)	p.D413D(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		AGATTTTGGATTTAGTAAAGG	0.294																																																	1	Substitution - coding silent(1)	kidney(1)											76.0	70.0	72.0					6																	57498975		1835	4083	5918	SO:0001624	3_prime_UTR_variant	5558				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000389488.2:c.*1323T>C	6.37:g.57498975T>C			Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	Silent	SNP	ENST00000389488.2	37																																																																																					0.294	PRIM2-001	KNOWN	sequence_error|basic	processed_transcript	protein_coding	OTTHUMT00000043468.3		NM_000947	
PRSS50	29122	broad.mit.edu	37	3	46753884	46753884	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr3:46753884C>A	ENST00000460241.1	-	11	2680	c.1010G>T	c.(1009-1011)aGc>aTc	p.S337I	PRSS50_ENST00000315170.7_Missense_Mutation_p.S337I			Q9UI38	TSP50_HUMAN	protease, serine, 50	337	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)	serine-type endopeptidase activity (GO:0004252)|threonine-type endopeptidase activity (GO:0004298)	p.S337I(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						TGGGGCCTCGCTCTTCTGGCA	0.642																																					Pancreas(41;915 1239 11561 17469)												1	Substitution - Missense(1)	kidney(1)											66.0	59.0	61.0					3																	46753884		2203	4300	6503	SO:0001583	missense	29122			AF100707	CCDS2745.1	3p21.31	2011-05-24			ENSG00000206549	ENSG00000206549		"""Serine peptidases / Serine peptidases"""	17910	protein-coding gene	gene with protein product	"""cancer/testis antigen 20"", ""testes specific protease 50"""	607950				10397268	Standard	NM_013270		Approved	TSP50, CT20	uc003cqe.1	Q9UI38	OTTHUMG00000164067	ENST00000460241.1:c.1010G>T	3.37:g.46753884C>A	ENSP00000418875:p.Ser337Ile			Missense_Mutation	SNP	ENST00000460241.1	37	CCDS2745.1	.	.	.	.	.	.	.	.	.	.	C	9.688	1.151214	0.21371	.	.	ENSG00000206549	ENST00000455218;ENST00000315170;ENST00000460241	D;D	0.88741	-2.42;-2.42	4.08	0.343	0.16001	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.688458	0.13344	N	0.394956	D	0.85725	0.5763	L	0.31371	0.925	0.09310	N	1	D	0.56521	0.976	P	0.54706	0.759	T	0.75755	-0.3206	10	0.52906	T	0.07	.	6.2946	0.21079	0.0:0.5692:0.0:0.4308	.	337	Q9UI38	TSP50_HUMAN	I	251;337;337	ENSP00000326598:S337I;ENSP00000418875:S337I	ENSP00000326598:S337I	S	-	2	0	PRSS50	46728888	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	-2.310000	0.01129	0.037000	0.15575	-0.140000	0.14226	AGC		0.642	PRSS50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354544.1			
RAMP1	10267	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	238820196	238820196	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr2:238820196C>T	ENST00000254661.4	+	3	350	c.218C>T	c.(217-219)aCc>aTc	p.T73I	RAMP1_ENST00000409726.1_Missense_Mutation_p.T51I|RAMP1_ENST00000404910.2_Missense_Mutation_p.T51I|RAMP1_ENST00000403885.1_Missense_Mutation_p.T51I	NM_005855.2	NP_005846.1	O60894	RAMP1_HUMAN	receptor (G protein-coupled) activity modifying protein 1	73					angiogenesis (GO:0001525)|calcium ion transport (GO:0006816)|intracellular protein transport (GO:0006886)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein glycosylation (GO:0060050)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcitonin receptor activity (GO:0004948)|calcitonin receptor binding (GO:0031716)|coreceptor activity (GO:0015026)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)	p.T73I(1)		kidney(1)|large_intestine(1)|lung(2)	4		Breast(86;0.000596)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;9.56e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.49e-11)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.49e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00013)|Lung(119;0.0119)|LUSC - Lung squamous cell carcinoma(224;0.0288)	Pramlintide(DB01278)	GCCGACTGCACCTGGCACATG	0.657																																					NSCLC(177;211 2889 43936 50767)												1	Substitution - Missense(1)	kidney(1)											44.0	39.0	41.0					2																	238820196		2203	4300	6503	SO:0001583	missense	10267			AJ001014	CCDS2522.1	2q36-q37.1	2008-02-05	2006-11-21		ENSG00000132329	ENSG00000132329		"""Receptor (G protein-coupled) activity modifying proteins"""	9843	protein-coding gene	gene with protein product		605153	"""receptor activity modifying protein 1"", ""receptor (calcitonin) activity modifying protein 1"""				Standard	NM_005855		Approved		uc002vxj.3	O60894	OTTHUMG00000133337	ENST00000254661.4:c.218C>T	2.37:g.238820196C>T	ENSP00000254661:p.Thr73Ile		Q6FGS5	Missense_Mutation	SNP	ENST00000254661.4	37	CCDS2522.1	.	.	.	.	.	.	.	.	.	.	C	16.63	3.177486	0.57692	.	.	ENSG00000132329	ENST00000404910;ENST00000254661;ENST00000409726;ENST00000403885	T;T;T;T	0.49432	0.78;0.78;0.78;0.78	4.65	4.65	0.58169	.	0.046335	0.85682	D	0.000000	T	0.69753	0.3146	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.75001	-0.3471	10	0.72032	D	0.01	-51.9269	15.4548	0.75305	0.0:1.0:0.0:0.0	.	73	O60894	RAMP1_HUMAN	I	51;73;51;51	ENSP00000384688:T51I;ENSP00000254661:T73I;ENSP00000386720:T51I;ENSP00000386046:T51I	ENSP00000254661:T73I	T	+	2	0	RAMP1	238484935	1.000000	0.71417	0.879000	0.34478	0.026000	0.11368	5.673000	0.68109	2.311000	0.77944	0.650000	0.86243	ACC		0.657	RAMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257166.2		NM_005855	
RNF123	63891	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	49734822	49734822	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr3:49734822T>C	ENST00000327697.6	+	5	418	c.274T>C	c.(274-276)Tcc>Ccc	p.S92P	RNF123_ENST00000432042.1_5'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	92	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.S92P(1)		NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GCTTGGCCCATCCACTGTGGT	0.607																																																	1	Substitution - Missense(1)	kidney(1)											54.0	52.0	53.0					3																	49734822		2203	4300	6503	SO:0001583	missense	63891			AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.274T>C	3.37:g.49734822T>C	ENSP00000328287:p.Ser92Pro		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Missense_Mutation	SNP	ENST00000327697.6	37	CCDS33758.1	.	.	.	.	.	.	.	.	.	.	T	20.6	4.014630	0.75161	.	.	ENSG00000164068	ENST00000327697;ENST00000389066	T	0.61040	0.14	6.17	3.72	0.42706	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.197614	0.44097	D	0.000492	T	0.35856	0.0946	N	0.14661	0.345	0.80722	D	1	P	0.47409	0.895	B	0.37943	0.261	T	0.05666	-1.0871	10	0.22706	T	0.39	-26.611	12.6372	0.56689	0.0:0.0:0.2612:0.7387	.	92	Q5XPI4	RN123_HUMAN	P	92	ENSP00000328287:S92P	ENSP00000328287:S92P	S	+	1	0	RNF123	49709826	0.991000	0.36638	0.934000	0.37439	0.997000	0.91878	2.353000	0.44089	0.522000	0.28464	0.533000	0.62120	TCC		0.607	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2		NM_022064	
RNPEP	6051	hgsc.bcm.edu;ucsc.edu	37	1	201970845	201970845	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr1:201970845delA	ENST00000295640.4	+	8	1419	c.1376delA	c.(1375-1377)tacfs	p.Y459fs	RP11-465N4.4_ENST00000415582.1_RNA|RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000471105.1_3'UTR|RNPEP_ENST00000367286.3_Frame_Shift_Del_p.Y420fs	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	459					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|epoxide hydrolase activity (GO:0004301)|metalloexopeptidase activity (GO:0008235)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		CTGGACTTCTACTTGGAATAT	0.453																																					GBM(19;39 479 7473 13131 19462)												0													133.0	134.0	134.0					1																	201970845		2203	4300	6503	SO:0001589	frameshift_variant	6051			BC001064	CCDS1418.1	1q32	2008-02-05			ENSG00000176393	ENSG00000176393	3.4.11.6		10078	protein-coding gene	gene with protein product		602675				9533033, 10467730	Standard	NM_020216		Approved		uc001gxd.3	Q9H4A4	OTTHUMG00000035866	ENST00000295640.4:c.1376delA	1.37:g.201970845delA	ENSP00000295640:p.Tyr459fs		Q9BVM9|Q9H1D4|Q9NPT7	Frame_Shift_Del	DEL	ENST00000295640.4	37	CCDS1418.1																																																																																				0.453	RNPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087345.1		NM_020216	
RPL4	6124	hgsc.bcm.edu	37	15	66791809	66791809	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr15:66791809G>A	ENST00000307961.6	-	10	1312	c.1220C>T	c.(1219-1221)cCa>cTa	p.P407L	SNAPC5_ENST00000316634.5_5'Flank|RPL4_ENST00000568588.1_Missense_Mutation_p.P313L|SNAPC5_ENST00000395589.2_5'Flank|SNORD18C_ENST00000362704.1_RNA|SNORD18B_ENST00000365659.1_RNA|MIR4512_ENST00000583257.1_RNA|SNAPC5_ENST00000563480.2_5'Flank|SNAPC5_ENST00000566658.1_5'Flank|SNAPC5_ENST00000307979.7_5'Flank	NM_000968.3	NP_000959.2	P36578	RL4_HUMAN	ribosomal protein L4	407	Lys-rich.				cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.P407L(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)|urinary_tract(1)	17						TTCAGGGGCTGGTTTCTTGGT	0.438																																																	1	Substitution - Missense(1)	kidney(1)											51.0	52.0	51.0					15																	66791809		2200	4299	6499	SO:0001583	missense	6124			AB007167	CCDS10218.1	15q22	2011-04-06			ENSG00000174444	ENSG00000174444		"""L ribosomal proteins"""	10353	protein-coding gene	gene with protein product	"""60S ribosomal protein L4"""	180479				9582194, 8268230	Standard	NM_000968		Approved	L4	uc002apv.3	P36578	OTTHUMG00000133193	ENST00000307961.6:c.1220C>T	15.37:g.66791809G>A	ENSP00000311430:p.Pro407Leu		A8K502|P39029|Q4VBR0|Q969Z9	Missense_Mutation	SNP	ENST00000307961.6	37	CCDS10218.1	.	.	.	.	.	.	.	.	.	.	G	11.37	1.617613	0.28801	.	.	ENSG00000174444	ENST00000307961	.	.	.	4.89	3.96	0.45880	.	0.363501	0.22605	N	0.057919	T	0.25005	0.0607	N	0.14661	0.345	0.26451	N	0.975612	B	0.09022	0.002	B	0.06405	0.002	T	0.11616	-1.0580	9	0.48119	T	0.1	-0.8887	9.5915	0.39548	0.0974:0.0:0.9026:0.0	.	407	P36578	RL4_HUMAN	L	407	.	ENSP00000311430:P407L	P	-	2	0	RPL4	64578863	0.995000	0.38212	0.237000	0.24090	0.240000	0.25518	2.716000	0.47219	2.244000	0.73946	0.655000	0.94253	CCA		0.438	RPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256903.2		NM_000968	
SAMD11	148398	broad.mit.edu	37	1	878409	878409	+	Missense_Mutation	SNP	C	C	T	rs181205550		TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr1:878409C>T	ENST00000342066.3	+	11	1618	c.1535C>T	c.(1534-1536)cCt>cTt	p.P512L		NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	512					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)		p.P512L(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CTGGGCTTCCCTTATGCCGTC	0.677																																																	1	Substitution - Missense(1)	kidney(1)											7.0	8.0	8.0					1																	878409		1969	3988	5957	SO:0001583	missense	148398			BC024295	CCDS2.2	1p36.33	2013-01-10			ENSG00000187634	ENSG00000187634		"""Sterile alpha motif (SAM) domain containing"""	28706	protein-coding gene	gene with protein product						12477932	Standard	NM_152486		Approved	MGC45873	uc001abw.1	Q96NU1	OTTHUMG00000040719	ENST00000342066.3:c.1535C>T	1.37:g.878409C>T	ENSP00000342313:p.Pro512Leu		A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59	Missense_Mutation	SNP	ENST00000342066.3	37	CCDS2.2	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0017482517482517483|0.0017482517482517483	0|0	0.0|0.0	C|C	16.44|16.44	3.123829|3.123829	0.56613|0.56613	.|.	.|.	ENSG00000187634|ENSG00000187634	ENST00000341065;ENST00000455979|ENST00000342066	.|.	.|.	.|.	4.55|4.55	4.55|4.55	0.56014|0.56014	.|.	.|0.134612	.|0.50627	.|D	.|0.000106	T|T	0.77638|0.77638	0.4160|0.4160	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.87578	.|0.998;0.996	T|T	0.80679|0.80679	-0.1275|-0.1275	5|9	.|0.72032	.|D	.|0.01	-10.5405|-10.5405	16.7273|16.7273	0.85426|0.85426	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|496;512	.|Q96NU1-1;Q96NU1	.|.;SAM11_HUMAN	F|L	420;339|512	.|.	.|ENSP00000342313:P512L	L|P	+|+	1|2	0|0	SAMD11|SAMD11	868272|868272	0.447000|0.447000	0.25673|0.25673	0.990000|0.990000	0.47175|0.47175	0.582000|0.582000	0.36321|0.36321	2.540000|2.540000	0.45727|0.45727	2.282000|2.282000	0.76494|0.76494	0.306000|0.306000	0.20318|0.20318	CTT|CCT		0.677	SAMD11-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276866.2		NM_152486	
RUSC1	23623	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	155291906	155291906	+	Silent	SNP	C	C	A			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr1:155291906C>A	ENST00000368352.5	+	2	493	c.342C>A	c.(340-342)ccC>ccA	p.P114P	RUSC1_ENST00000292254.4_5'Flank|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1_ENST00000368354.3_Silent_p.P114P|RUSC1-AS1_ENST00000446880.1_RNA|RUSC1_ENST00000368349.4_5'Flank|RUSC1-AS1_ENST00000543656.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA|RUSC1_ENST00000368347.4_5'Flank	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	114					positive regulation of signal transduction (GO:0009967)|protein polyubiquitination (GO:0000209)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|SH3/SH2 adaptor activity (GO:0005070)	p.P114P(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			ATCTTAGCCCCGATGAGTCCC	0.627																																																	1	Substitution - coding silent(1)	kidney(1)											49.0	52.0	51.0					1																	155291906		2054	4197	6251	SO:0001819	synonymous_variant	23623			AB026894	CCDS1112.1, CCDS41410.1, CCDS41411.1, CCDS41412.1	1q21-q22	2011-04-28			ENSG00000160753	ENSG00000160753			17153	protein-coding gene	gene with protein product						10760598	Standard	NM_001105203		Approved	NESCA	uc001fkj.2	Q9BVN2	OTTHUMG00000013910	ENST00000368352.5:c.342C>A	1.37:g.155291906C>A			B3KWM9|Q5T9U9|Q5T9V0|Q5T9V1|Q5T9V2|Q9UPY4|Q9Y4T5	Silent	SNP	ENST00000368352.5	37	CCDS41410.1																																																																																				0.627	RUSC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039071.1			
SLC22A12	116085	broad.mit.edu;hgsc.bcm.edu	37	11	64360346	64360346	+	Silent	SNP	C	C	A			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr11:64360346C>A	ENST00000377574.1	+	2	1245	c.498C>A	c.(496-498)gcC>gcA	p.A166A	SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000336464.7_Silent_p.A166A|SLC22A12_ENST00000377572.1_Silent_p.A166A|SLC22A12_ENST00000377567.2_Silent_p.A166A	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	166					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)	p.A166A(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	GCGGCCCTGCCTCAGACAGGT	0.622																																																	1	Substitution - coding silent(1)	kidney(1)											89.0	77.0	81.0					11																	64360346		2201	4297	6498	SO:0001819	synonymous_variant	116085			AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.498C>A	11.37:g.64360346C>A			B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Silent	SNP	ENST00000377574.1	37	CCDS8075.1																																																																																				0.622	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104966.2		NM_144585	
SPAG17	200162	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	118581935	118581935	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr1:118581935T>G	ENST00000336338.5	-	23	3364	c.3299A>C	c.(3298-3300)gAg>gCg	p.E1100A		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1100						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)		p.E1100A(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ACTTTGTTCCTCATCTCCTTC	0.373																																																	1	Substitution - Missense(1)	kidney(1)											146.0	147.0	147.0					1																	118581935		2203	4300	6503	SO:0001583	missense	200162				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.3299A>C	1.37:g.118581935T>G	ENSP00000337804:p.Glu1100Ala		Q8NAZ1|Q9NT21	Missense_Mutation	SNP	ENST00000336338.5	37	CCDS899.1	.	.	.	.	.	.	.	.	.	.	T	7.472	0.646933	0.14516	.	.	ENSG00000155761	ENST00000336338	T	0.27557	1.66	5.04	-0.324	0.12706	.	0.959087	0.08635	N	0.916410	T	0.08582	0.0213	L	0.34521	1.04	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.40701	-0.9549	10	0.54805	T	0.06	.	7.4432	0.27196	0.0:0.0758:0.4245:0.4997	.	1100	Q6Q759	SPG17_HUMAN	A	1100	ENSP00000337804:E1100A	ENSP00000337804:E1100A	E	-	2	0	SPAG17	118383458	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.451000	0.06795	-0.214000	0.10078	0.533000	0.62120	GAG		0.373	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1		NM_206996	
SSPO	23145	hgsc.bcm.edu	37	7	149476666	149476667	+	RNA	INS	-	-	C	rs57553723|rs397826817		TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr7:149476666_149476667insC	ENST00000378016.2	+	0	1116_1117							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCTGTGACAGCCCCTGGGGCT	0.619													CCCCC|CCCC|CCCCC|deletion	5008	1.0	1.0	1.0	5008	,	,		19212	1.0		1.0	False		,,,				2504	1.0																0										3874,6		1934,6,0						2.6	0.0		dbSNP_130	30	7955,15		3971,13,1	no	frameshift	SSPO	NM_198455.2		5905,19,1	A1A1,A1R,RR		0.1882,0.1546,0.1772				11829,21						23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149476670_149476670dupC			Q76B61	Frame_Shift_Ins	INS	ENST00000378016.2	37																																																																																					0.619	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				
TATDN1	83940	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	125500921	125500921	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr8:125500921T>C	ENST00000276692.6	-	12	845	c.808A>G	c.(808-810)Atg>Gtg	p.M270V	TATDN1_ENST00000519548.1_Missense_Mutation_p.M223V|RP11-158K1.3_ENST00000518639.1_RNA	NM_032026.3	NP_114415.1	Q6P1N9	TATD1_HUMAN	TatD DNase domain containing 1	270					DNA catabolic process (GO:0006308)	intracellular organelle (GO:0043229)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)|metal ion binding (GO:0046872)	p.M270V(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			ACTGCTGACATTATCTCCAAT	0.284																																																	1	Substitution - Missense(1)	kidney(1)											53.0	56.0	55.0					8																	125500921		2200	4280	6480	SO:0001583	missense	83940			AF212250	CCDS6351.1, CCDS55273.1	8q24.13	2004-06-07			ENSG00000147687	ENSG00000147687			24220	protein-coding gene	gene with protein product						12477932	Standard	NM_032026		Approved	CDA11	uc003yrd.2	Q6P1N9	OTTHUMG00000165068	ENST00000276692.6:c.808A>G	8.37:g.125500921T>C	ENSP00000276692:p.Met270Val		B2R5J0|Q8TD02|Q9BY40	Missense_Mutation	SNP	ENST00000276692.6	37	CCDS6351.1	.	.	.	.	.	.	.	.	.	.	T	15.70	2.909836	0.52439	.	.	ENSG00000147687	ENST00000276692;ENST00000519548;ENST00000522810	.	.	.	5.5	4.33	0.51752	.	0.075735	0.85682	D	0.000000	T	0.24967	0.0606	N	0.03608	-0.345	0.80722	D	1	B;B	0.14438	0.004;0.01	B;B	0.12156	0.007;0.004	T	0.17745	-1.0359	9	0.02654	T	1	-23.5456	12.2447	0.54563	0.0:0.0:0.2685:0.7315	.	306;270	E5RG17;Q6P1N9	.;TATD1_HUMAN	V	270;223;306	.	ENSP00000276692:M270V	M	-	1	0	TATDN1	125570102	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.523000	0.53488	1.011000	0.39340	0.533000	0.62120	ATG		0.284	TATDN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381655.1		NM_032026	
TMED2	10959	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	124069276	124069276	+	Silent	SNP	G	G	A			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr12:124069276G>A	ENST00000262225.3	+	1	199	c.93G>A	c.(91-93)gaG>gaA	p.E31E	RP11-486O12.2_ENST00000498967.2_lincRNA|TMED2_ENST00000509052.2_5'Flank	NM_006815.3	NP_006806.1	Q15363	TMED2_HUMAN	transmembrane emp24 domain trafficking protein 2	31	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.|Interaction with F2RL1.				cargo loading into vesicle (GO:0035459)|COPI coating of Golgi vesicle (GO:0048205)|COPII vesicle coating (GO:0048208)|embryonic morphogenesis (GO:0048598)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|intracellular protein transport (GO:0006886)|maternal placenta development (GO:0001893)|negative regulation of GTPase activity (GO:0034260)|protein targeting to plasma membrane (GO:0072661)	COPI-coated vesicle (GO:0030137)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|zymogen granule membrane (GO:0042589)		p.E31E(1)		kidney(1)|large_intestine(4)|lung(1)|prostate(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000138)|Epithelial(86;0.000613)|all cancers(50;0.00745)		ATGCTGAAGAGTGCTTCTTTG	0.627																																																	1	Substitution - coding silent(1)	kidney(1)											70.0	64.0	66.0					12																	124069276		2203	4300	6503	SO:0001819	synonymous_variant	10959			X92098	CCDS9250.1	12q24.31	2006-03-27			ENSG00000086598	ENSG00000086598			16996	protein-coding gene	gene with protein product						8663407	Standard	NM_006815		Approved	RNP24, P24A	uc001ufg.3	Q15363	OTTHUMG00000168694	ENST00000262225.3:c.93G>A	12.37:g.124069276G>A				Silent	SNP	ENST00000262225.3	37	CCDS9250.1																																																																																				0.627	TMED2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400606.1		NM_006815	
TTC24	164118	hgsc.bcm.edu	37	1	156553232	156553232	+	Frame_Shift_Del	DEL	C	C	-	rs140853435	byFrequency	TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr1:156553232delC	ENST00000368237.3	+	4	1142	c.1142delC	c.(1141-1143)gccfs	p.A381fs	TTC24_ENST00000478081.1_Intron|TTC24_ENST00000368236.3_Frame_Shift_Del_p.A381fs			A2A3L6	TTC24_HUMAN	tetratricopeptide repeat domain 24	381										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GAAGCACTGGCCCAGTGTCAG	0.592											OREG0013875	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	CCC|CCC|CC|deletion	295	0.0589058	0.0908	0.0418	5008	,	,		14776	0.0258		0.0417	False		,,,				2504	0.0798																0										415,3445		32,351,1547	24.0	29.0	27.0			3.2	0.9	1	dbSNP_134	29	240,7734		7,226,3754	no	frameshift	TTC24	NM_001105669.2		39,577,5301	A1A1,A1R,RR		3.0098,10.7513,5.5349			156553232	655,11179	2000	4169	6169	SO:0001589	frameshift_variant	164118				CCDS53379.1	1q22	2013-01-10			ENSG00000187862	ENSG00000187862		"""Tetratricopeptide (TTC) repeat domain containing"""	32348	protein-coding gene	gene with protein product							Standard	NM_001105669		Approved		uc021pbf.1	A2A3L6	OTTHUMG00000033202	ENST00000368237.3:c.1142delC	1.37:g.156553232delC	ENSP00000357220:p.Ala381fs	1779	Q5T3H7	Frame_Shift_Del	DEL	ENST00000368237.3	37	CCDS53379.1																																																																																				0.592	TTC24-006	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158547.1		XM_089384	
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179643760	179643760	+	Missense_Mutation	SNP	C	C	T	rs539470256		TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr2:179643760C>T	ENST00000591111.1	-	24	4273	c.4049G>A	c.(4048-4050)cGt>cAt	p.R1350H	TTN_ENST00000342992.6_Missense_Mutation_p.R1350H|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.R1350H|TTN_ENST00000589042.1_Missense_Mutation_p.R1350H|TTN_ENST00000460472.2_Missense_Mutation_p.R1304H|TTN_ENST00000359218.5_Missense_Mutation_p.R1304H|TTN_ENST00000342175.6_Missense_Mutation_p.R1304H			Q8WZ42	TITIN_HUMAN	titin	33546	Ig-like 5.		R -> H (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R1304H(4)|p.R1350H(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACAGGTATACGCAGACTAGC	0.413													C|||	1	0.000199681	0.0	0.0	5008	,	,		20801	0.001		0.0	False		,,,				2504	0.0																7	Substitution - Missense(7)	kidney(6)|stomach(1)											141.0	123.0	129.0					2																	179643760		2203	4300	6503	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.4049G>A	2.37:g.179643760C>T	ENSP00000465570:p.Arg1350His		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	17.82	3.483763	0.63962	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.69040	-0.37;-0.37;-0.37;-0.37;-0.37	5.72	5.72	0.89469	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71091	0.3299	N	0.12569	0.235	0.46981	D	0.999277	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.76852	-0.2806	9	0.87932	D	0	.	19.8946	0.96949	0.0:1.0:0.0:0.0	.	1304;1304;1304;1350;1350	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	H	1350;1304;1304;1304;1304;1350	ENSP00000343764:R1350H;ENSP00000434586:R1304H;ENSP00000340554:R1304H;ENSP00000352154:R1304H;ENSP00000354117:R1350H	ENSP00000340554:R1304H	R	-	2	0	TTN	179352005	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	4.936000	0.63506	2.711000	0.92665	0.655000	0.94253	CGT		0.413	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
UGT1A6	54578	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	234602164	234602164	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr2:234602164A>G	ENST00000305139.6	+	1	653	c.514A>G	c.(514-516)Agg>Ggg	p.R172G	UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_5'Flank|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000373450.4_Intron|AC114812.8_ENST00000439336.1_RNA	NM_001072.3	NP_001063.2	P19224	UD16_HUMAN	UDP glucuronosyltransferase 1 family, polypeptide A6	172					cellular glucuronidation (GO:0052695)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	enzyme binding (GO:0019899)|glucuronosyltransferase activity (GO:0015020)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R172G(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)	Acetaminophen(DB00316)|Deferiprone(DB08826)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Valproic Acid(DB00313)	GTACCTCTTCAGGGGTTTTCC	0.498																																																	1	Substitution - Missense(1)	kidney(1)											145.0	136.0	139.0					2																	234602164		2203	4300	6503	SO:0001583	missense	54578			M84130	CCDS2507.1, CCDS2508.1	2q37	2010-03-05	2005-07-20		ENSG00000167165	ENSG00000167165		"""UDP glucuronosyltransferases"""	12538	other	complex locus constituent		606431	"""UDP glycosyltransferase 1 family, polypeptide A6"""			9295054, 1339448	Standard	NM_001072		Approved	HLUGP, GNT1, UGT1F		P19224	OTTHUMG00000059122	ENST00000305139.6:c.514A>G	2.37:g.234602164A>G	ENSP00000303174:p.Arg172Gly		A6NKK6|B8K289|Q96TE7	Missense_Mutation	SNP	ENST00000305139.6	37	CCDS2507.1	.	.	.	.	.	.	.	.	.	.	A	17.31	3.357967	0.61403	.	.	ENSG00000167165	ENST00000441351;ENST00000305139	T;T	0.64260	-0.09;-0.09	5.31	0.12	0.14691	.	.	.	.	.	T	0.76814	0.4040	M	0.89095	3.005	0.80722	D	1	P;B	0.46859	0.885;0.046	P;B	0.53360	0.724;0.139	D	0.83892	0.0285	9	0.72032	D	0.01	.	17.0147	0.86415	0.356:0.644:0.0:0.0	.	172;172	B8K289;P19224	.;UD16_HUMAN	G	172	ENSP00000389637:R172G;ENSP00000303174:R172G	ENSP00000303174:R172G	R	+	1	2	UGT1A6	234266903	0.000000	0.05858	1.000000	0.80357	0.779000	0.44077	-0.100000	0.10990	0.117000	0.18138	0.533000	0.62120	AGG		0.498	UGT1A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130988.1		NM_205862	
UPF2	26019	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	12009405	12009405	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr10:12009405G>T	ENST00000356352.2	-	9	2475	c.2002C>A	c.(2002-2004)Cgt>Agt	p.R668S	UPF2_ENST00000397053.2_Missense_Mutation_p.R668S|UPF2_ENST00000357604.5_Missense_Mutation_p.R668S			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	668	MIF4G 2.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)	p.R668S(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				CCTATAAAACGAACAGTTTTA	0.289																																																	1	Substitution - Missense(1)	kidney(1)											114.0	109.0	110.0					10																	12009405		2200	4298	6498	SO:0001583	missense	26019			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.2002C>A	10.37:g.12009405G>T	ENSP00000348708:p.Arg668Ser		A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	ENST00000356352.2	37	CCDS7086.1	.	.	.	.	.	.	.	.	.	.	G	18.20	3.570774	0.65765	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000397053	T;T;T	0.30714	1.52;1.52;1.52	4.75	4.75	0.60458	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.000000	0.85682	D	0.000000	T	0.59702	0.2213	M	0.89414	3.03	0.54753	D	0.999981	D	0.89917	1.0	D	0.97110	1.0	T	0.65768	-0.6088	10	0.56958	D	0.05	.	12.0709	0.53616	0.0:0.0:0.714:0.286	.	668	Q9HAU5	RENT2_HUMAN	S	668	ENSP00000348708:R668S;ENSP00000350221:R668S;ENSP00000380244:R668S	ENSP00000348708:R668S	R	-	1	0	UPF2	12049411	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.458000	0.53014	2.363000	0.80096	0.585000	0.79938	CGT		0.289	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046783.1			
WASH2P	375260	broad.mit.edu	37	2	114355998	114355998	+	RNA	SNP	C	C	G	rs17857355	byFrequency	TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr2:114355998C>G	ENST00000538033.2	+	0	2178							Q6VEQ5	WASH2_HUMAN	WAS protein family homolog 2 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										CCAAGGTGGGCACTTGATGTC	0.612																																																	0																																												375260					2q13	2010-07-08	2008-01-16	2008-01-16	ENSG00000146556	ENSG00000146556		"""WAS protein homologs"""	33145	pseudogene	pseudogene			"""family with sequence similarity 39, member B"""	FAM39B		18159949	Standard	NR_024077		Approved	MGC52000	uc002tkh.3	Q6VEQ5	OTTHUMG00000047822		2.37:g.114355998C>G				Missense_Mutation	SNP	ENST00000538033.2	37																																																																																					0.612	WASH2P-002	KNOWN	mRNA_end_NF|basic	retained_intron	pseudogene	OTTHUMT00000467782.1		NM_198943	
ZNF257	113835	broad.mit.edu;hgsc.bcm.edu	37	19	22271484	22271484	+	Missense_Mutation	SNP	C	C	T	rs368126672		TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr19:22271484C>T	ENST00000594947.1	+	4	1076	c.932C>T	c.(931-933)aCt>aTt	p.T311I		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)	p.T311I(1)		haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGAATTCATACTGGAGAGAAA	0.408																																																	1	Substitution - Missense(1)	kidney(1)						C	ILE/THR	0,4284		0,0,2142	48.0	52.0	51.0		932	1.1	0.5	19		51	1,8539		0,1,4269	no	missense	ZNF257	NM_033468.2	89	0,1,6411	TT,TC,CC		0.0117,0.0,0.0078	benign	311/564	22271484	1,12823	2142	4270	6412	SO:0001583	missense	113835			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.932C>T	19.37:g.22271484C>T	ENSP00000470209:p.Thr311Ile		B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	ENST00000594947.1	37	CCDS46030.1	.	.	.	.	.	.	.	.	.	.	C	13.61	2.287851	0.40494	0.0	1.17E-4	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	1.11	0.20524	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44435	0.1293	M	0.84948	2.725	0.29091	N	0.88209	P	0.42871	0.792	B	0.40940	0.344	T	0.49679	-0.8914	8	0.87932	D	0	.	4.6449	0.12566	0.0:0.7701:0.0:0.2299	.	311	Q9Y2Q1	ZN257_HUMAN	I	311;283	.	ENSP00000380312:T283I	T	+	2	0	ZNF257	22063324	0.007000	0.16637	0.484000	0.27391	0.183000	0.23260	0.342000	0.19926	0.518000	0.28383	0.313000	0.20887	ACT		0.408	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464382.1			
ZNF528	84436	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	52918813	52918813	+	Silent	SNP	T	T	C			TCGA-BP-5000-01A-01D-1462-08	TCGA-BP-5000-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	b9816eaa-3c60-4fbf-abd6-6d869ca9cca7	ec0ff7f5-675f-4168-85f8-edf28a5d2e36	g.chr19:52918813T>C	ENST00000360465.3	+	7	1134	c.708T>C	c.(706-708)acT>acC	p.T236T	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	236					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.T236T(1)		breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GAATGCATACTGGAGAGAAGC	0.393																																																	1	Substitution - coding silent(1)	kidney(1)											89.0	86.0	87.0					19																	52918813		2203	4300	6503	SO:0001819	synonymous_variant	84436			AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.708T>C	19.37:g.52918813T>C			B3KPN4|Q86T88|Q96JK0	Silent	SNP	ENST00000360465.3	37	CCDS33091.1																																																																																				0.393	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1		NM_032423	
