#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
ABCG4	64137	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	119029566	119029566	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr11:119029566G>T	ENST00000449422.2	+	12	1552	c.1364G>T	c.(1363-1365)aGg>aTg	p.R455M	AP002956.1_ENST00000599663.1_5'Flank|ABCG4_ENST00000531739.1_Missense_Mutation_p.R455M|ABCG4_ENST00000307417.3_Missense_Mutation_p.R455M	NM_001142505.1	NP_001135977.1	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	455	ABC transmembrane type-2.				cholesterol efflux (GO:0033344)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)	p.R455M(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GTCTTCATGAGGGAGCACCTC	0.627																																																	1	Substitution - Missense(1)	kidney(1)											301.0	218.0	246.0					11																	119029566		2200	4295	6495	SO:0001583	missense	64137			AJ300465	CCDS8415.1	11q23	2012-03-14			ENSG00000172350	ENSG00000172350		"""ATP binding cassette transporters / subfamily G"""	13884	protein-coding gene	gene with protein product	"""putative ABC transporter"", ""ATP-binding cassette, subfamily G, member 4"""	607784				11435397	Standard	NM_022169		Approved	WHITE2	uc001pvs.3	Q9H172	OTTHUMG00000166169	ENST00000449422.2:c.1364G>T	11.37:g.119029566G>T	ENSP00000406874:p.Arg455Met	Somatic		WXS	Illumina HiSeq	Phase_I	A8K1B5|Q8WWH0|Q8WWH1|Q8WWH2	Missense_Mutation	SNP	ENST00000449422.2	37	CCDS8415.1	.	.	.	.	.	.	.	.	.	.	G	30	5.056612	0.93793	.	.	ENSG00000172350	ENST00000307417;ENST00000449422;ENST00000531739	T;T;T	0.77098	-1.07;-1.07;-1.07	5.36	5.36	0.76844	ABC-2 type transporter (1);	0.000000	0.85682	D	0.000000	D	0.92515	0.7623	H	0.96720	3.87	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94867	0.8027	10	0.87932	D	0	-24.4164	18.6851	0.91560	0.0:0.0:1.0:0.0	.	455	Q9H172	ABCG4_HUMAN	M	455	ENSP00000304111:R455M;ENSP00000406874:R455M;ENSP00000434318:R455M	ENSP00000304111:R455M	R	+	2	0	ABCG4	118534776	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.832000	0.99423	2.486000	0.83907	0.655000	0.94253	AGG		0.627	ABCG4-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388215.1		NM_022169	
ADAM29	11086	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	175898804	175898804	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr4:175898804G>T	ENST00000359240.3	+	5	2798	c.2128G>T	c.(2128-2130)Gtt>Ttt	p.V710F	RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_Missense_Mutation_p.V710F|ADAM29_ENST00000404450.4_Missense_Mutation_p.V710F|ADAM29_ENST00000514159.1_Missense_Mutation_p.V710F	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	710					spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.V710F(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GCAGCAAGATGTTCAAACTCC	0.368																																					Ovarian(140;1727 1835 21805 25838 41440)												1	Substitution - Missense(1)	kidney(1)											55.0	57.0	57.0					4																	175898804		2203	4300	6503	SO:0001583	missense	11086			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2128G>T	4.37:g.175898804G>T	ENSP00000352177:p.Val710Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	G	8.715	0.913002	0.17907	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.01998	4.51;4.51;4.51;4.51	2.31	2.31	0.28768	.	.	.	.	.	T	0.03871	0.0109	N	0.19112	0.55	0.09310	N	1	D	0.63046	0.992	P	0.60789	0.879	T	0.52034	-0.8629	8	.	.	.	.	8.2006	0.31421	0.0:0.0:1.0:0.0	.	710	Q9UKF5	ADA29_HUMAN	F	710	ENSP00000352177:V710F;ENSP00000414544:V710F;ENSP00000384229:V710F;ENSP00000423517:V710F	.	V	+	1	0	ADAM29	176135379	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	0.100000	0.15231	1.632000	0.50472	0.551000	0.68910	GTT		0.368	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding				
ADAMTS19	171019	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	129015555	129015555	+	Nonsense_Mutation	SNP	C	C	T			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr5:129015555C>T	ENST00000274487.4	+	17	2732	c.2587C>T	c.(2587-2589)Cga>Tga	p.R863*	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	863	Spacer.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R863*(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TTATGTAAGACGAGGCCTCTG	0.438																																																	1	Substitution - Nonsense(1)	kidney(1)											101.0	99.0	100.0					5																	129015555		2203	4300	6503	SO:0001587	stop_gained	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2587C>T	5.37:g.129015555C>T	ENSP00000274487:p.Arg863*	Somatic		WXS	Illumina HiSeq	Phase_I		Nonsense_Mutation	SNP	ENST00000274487.4	37	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	C	41	8.577380	0.98870	.	.	ENSG00000145808	ENST00000274487	.	.	.	4.54	3.65	0.41850	.	0.000000	0.64402	D	0.000011	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2787	0.49181	0.5039:0.4961:0.0:0.0	.	.	.	.	X	863	.	.	R	+	1	2	ADAMTS19	129043454	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.455000	0.44988	1.457000	0.47850	0.650000	0.86243	CGA		0.438	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2		NM_133638	
ADAT3	113179	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	1913029	1913030	+	Missense_Mutation	DNP	CG	CG	GT	rs374083050		TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	C|G	C|G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr19:1913029_1913030CG>GT	ENST00000602400.1	+	2	1163_1164	c.935_936CG>GT	c.(934-936)tCG>tGT	p.S312C	SCAMP4_ENST00000316097.8_Intron|ADAT3_ENST00000329478.2_Missense_Mutation_p.S328C|SCAMP4_ENST00000414057.2_Intron|SCAMP4_ENST00000409472.1_Intron			Q96EY9	ADAT3_HUMAN	adenosine deaminase, tRNA-specific 3	312					tRNA processing (GO:0008033)		hydrolase activity (GO:0016787)|zinc ion binding (GO:0008270)	p.S312>?(1)|p.S312W(1)|p.S312S(1)		breast(1)|kidney(3)|pancreas(1)|skin(2)	7		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGCGCCCTCGCCCGACGGCG	0.708																																																	3	Substitution - Missense(1)|Complex(1)|Substitution - coding silent(1)	kidney(3)																																								SO:0001583	missense	113179			BC011824	CCDS12076.1, CCDS12076.2	19p13.3	2011-05-19	2011-05-19		ENSG00000213638	ENSG00000213638			25151	protein-coding gene	gene with protein product	"""tRNA-specific adenosine deaminase 3 homolog (S. cerevisiae)"""	615302	"""adenosine deaminase, tRNA-specific 3, TAD3 homolog (S. cerevisiae)"""			12457566	Standard	NM_138422		Approved	TAD3	uc002luh.4	Q96EY9	OTTHUMG00000154591	Exception_encountered	19.37:g.1913029_1913030delinsGT	ENSP00000473571:p.Ser312Cys	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation|Silent	SNP	ENST00000602400.1	37																																																																																					0.708	ADAT3-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_138422	
ANO5	203859	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	22242734	22242734	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr11:22242734A>G	ENST00000324559.8	+	5	589	c.272A>G	c.(271-273)aAg>aGg	p.K91R		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	91					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)	p.K91R(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GATGATGTAAAGAAAGACGCA	0.348																																																	1	Substitution - Missense(1)	kidney(1)											88.0	85.0	86.0					11																	22242734		2203	4299	6502	SO:0001583	missense	203859			AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.272A>G	11.37:g.22242734A>G	ENSP00000315371:p.Lys91Arg	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000324559.8	37	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	A	2.186	-0.386393	0.04966	.	.	ENSG00000171714	ENST00000324559	T	0.66460	-0.21	4.99	2.65	0.31530	.	0.392722	0.26903	N	0.021918	T	0.47544	0.1451	L	0.28274	0.84	0.21861	N	0.999503	B	0.16166	0.016	B	0.15484	0.013	T	0.24870	-1.0148	10	0.20519	T	0.43	.	7.8866	0.29653	0.7693:0.0:0.2307:0.0	.	91	Q75V66	ANO5_HUMAN	R	91	ENSP00000315371:K91R	ENSP00000315371:K91R	K	+	2	0	ANO5	22199310	1.000000	0.71417	0.856000	0.33681	0.023000	0.10783	2.101000	0.41787	0.338000	0.23692	-0.290000	0.09829	AAG		0.348	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1		NM_213599	
ARHGEF17	9828	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	73066597	73066597	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr11:73066597T>C	ENST00000263674.3	+	4	3823	c.3473T>C	c.(3472-3474)gTa>gCa	p.V1158A	AP002761.1_ENST00000582555.1_RNA	NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1158	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.V1158A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GATGTCCTAGTAAACATCTAT	0.517																																																	1	Substitution - Missense(1)	kidney(1)											108.0	90.0	96.0					11																	73066597		2200	4293	6493	SO:0001583	missense	9828			AF378754	CCDS8221.1	11q13.3	2011-11-16			ENSG00000110237	ENSG00000110237		"""Rho guanine nucleotide exchange factors"""	21726	protein-coding gene	gene with protein product	"""Rho-specific guanine-nucleotide exchange factor 164 kDa"", ""tumor endothelial marker 4"""					11559528, 12071859	Standard	NM_014786		Approved	TEM4, KIAA0337, p164-RhoGEF	uc001otu.3	Q96PE2	OTTHUMG00000167971	ENST00000263674.3:c.3473T>C	11.37:g.73066597T>C	ENSP00000263674:p.Val1158Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B2RP20|Q86XU2|Q8N2S0|Q9Y4G3	Missense_Mutation	SNP	ENST00000263674.3	37	CCDS8221.1	.	.	.	.	.	.	.	.	.	.	T	10.85	1.467248	0.26335	.	.	ENSG00000110237	ENST00000263674	T	0.68181	-0.31	6.08	4.96	0.65561	Dbl homology (DH) domain (5);	0.313124	0.33691	N	0.004660	T	0.49575	0.1565	N	0.16201	0.385	0.42144	D	0.991525	B	0.14805	0.011	B	0.15052	0.012	T	0.46442	-0.9191	10	0.66056	D	0.02	-8.779	11.154	0.48476	0.0:0.0723:0.0:0.9277	.	1158	Q96PE2	ARHGH_HUMAN	A	1158	ENSP00000263674:V1158A	ENSP00000263674:V1158A	V	+	2	0	ARHGEF17	72744245	1.000000	0.71417	0.987000	0.45799	0.362000	0.29581	4.768000	0.62293	1.123000	0.41961	0.533000	0.62120	GTA		0.517	ARHGEF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397365.1		NM_014786	
ARSH	347527	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	2951181	2951181	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chrX:2951181C>A	ENST00000381130.2	+	9	1444	c.1444C>A	c.(1444-1446)Ctc>Atc	p.L482I		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	482					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)	p.L482I(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186)				CCCACCACTCCTCTTTGACAT	0.478																																																	1	Substitution - Missense(1)	kidney(1)											102.0	75.0	84.0					X																	2951181		2203	4300	6503	SO:0001583	missense	347527			AY875940	CCDS35198.1	Xp22.33	2013-02-14	2006-03-07		ENSG00000205667	ENSG00000205667		"""Arylsulfatase family"""	32488	protein-coding gene	gene with protein product		300586	"""arylsulfatase H"""			16174644	Standard	NM_001011719		Approved		uc011mhj.2	Q5FYA8	OTTHUMG00000159612	ENST00000381130.2:c.1444C>A	X.37:g.2951181C>A	ENSP00000370522:p.Leu482Ile	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000381130.2	37	CCDS35198.1	.	.	.	.	.	.	.	.	.	.	c	10.67	1.414972	0.25465	.	.	ENSG00000205667	ENST00000381130	D	0.98280	-4.84	3.06	3.06	0.35304	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.178683	0.36703	U	0.002443	D	0.98570	0.9522	M	0.84683	2.71	0.24844	N	0.992448	D	0.76494	0.999	D	0.97110	1.0	D	0.94494	0.7704	10	0.36615	T	0.2	.	8.1764	0.31285	0.0:0.8782:0.0:0.1218	.	482	Q5FYA8	ARSH_HUMAN	I	482	ENSP00000370522:L482I	ENSP00000370522:L482I	L	+	1	0	ARSH	2961181	1.000000	0.71417	0.051000	0.19133	0.046000	0.14306	1.123000	0.31308	1.307000	0.44944	0.513000	0.50165	CTC		0.478	ARSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356489.1		NM_001011719	
BACE1	23621	hgsc.bcm.edu;ucsc.edu	37	11	117165880	117165894	+	In_Frame_Del	DEL	GCCTTCCCAGTTGGA	GCCTTCCCAGTTGGA	-			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	GCCTTCCCAGTTGGA	GCCTTCCCAGTTGGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr11:117165880_117165894delGCCTTCCCAGTTGGA	ENST00000313005.6	-	3	980_994	c.520_534delTCCAACTGGGAAGGC	c.(520-534)tccaactgggaaggcdel	p.SNWEG174del	BACE1_ENST00000510630.1_In_Frame_Del_p.SNWEG74del|BACE1_ENST00000513780.1_In_Frame_Del_p.SNWEG174del|BACE1_ENST00000445823.2_Intron|BACE1_ENST00000428381.2_Intron|BACE1_ENST00000514464.1_Intron|BACE1_ENST00000528053.1_In_Frame_Del_p.SNWEG174del|BACE1_ENST00000392937.6_In_Frame_Del_p.SNWEG74del	NM_012104.4|NM_138971.3|NM_138972.3|NM_138973.3	NP_036236|NP_620427.1|NP_620428.1|NP_620429.1	P56817	BACE1_HUMAN	beta-site APP-cleaving enzyme 1	174					beta-amyloid metabolic process (GO:0050435)|membrane protein ectodomain proteolysis (GO:0006509)|proteolysis (GO:0006508)	axon (GO:0030424)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	aspartic-type endopeptidase activity (GO:0004190)|beta-amyloid binding (GO:0001540)|beta-aspartyl-peptidase activity (GO:0008798)|enzyme binding (GO:0019899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.69e-05)|Epithelial(105;0.000563)|all cancers(92;0.0032)		GCCCCAGGATGCCTTCCCAGTTGGAGCCGTTGATG	0.553																																																	0																																										SO:0001651	inframe_deletion	23621			AF190725	CCDS8383.1, CCDS44739.1, CCDS44740.1, CCDS44741.1, CCDS55787.1, CCDS55786.1	11q23-q24	2011-07-27	2004-04-02	2004-04-02	ENSG00000186318	ENSG00000186318			933	protein-coding gene	gene with protein product		604252	"""beta-site APP-cleaving enzyme"""	BACE		10531052	Standard	NM_012104		Approved		uc001pqz.3	P56817	OTTHUMG00000160636	ENST00000313005.6:c.520_534delTCCAACTGGGAAGGC	11.37:g.117165880_117165894delGCCTTCCCAGTTGGA	ENSP00000318585:p.Ser174_Gly178del	Somatic		WXS	Illumina HiSeq	Phase_I	A0M8W7|B0YIU9|E9PE65|H7BXJ9|Q9BYB9|Q9BYC0|Q9BYC1|Q9UJT5|Q9ULS1	In_Frame_Del	DEL	ENST00000313005.6	37	CCDS8383.1																																																																																				0.553	BACE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361505.1			
BRCA2	675	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	32899270	32899270	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr13:32899270A>G	ENST00000380152.3	+	4	607	c.374A>G	c.(373-375)gAt>gGt	p.D125G	BRCA2_ENST00000544455.1_Missense_Mutation_p.D125G			P51587	BRCA2_HUMAN	breast cancer 2, early onset	125					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)	p.D125G(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ACTAAAATGGATCAAGCAGAT	0.318			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	2	Substitution - Missense(2)	kidney(2)											90.0	88.0	89.0					13																	32899270		2203	4299	6502	SO:0001583	missense	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.374A>G	13.37:g.32899270A>G	ENSP00000369497:p.Asp125Gly	Somatic		WXS	Illumina HiSeq	Phase_I	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	A	10.56	1.383863	0.25031	.	.	ENSG00000139618	ENST00000380152;ENST00000544455;ENST00000530893	T;T	0.00824	5.65;5.65	5.84	0.0832	0.14432	.	1.182340	0.05915	N	0.632390	T	0.00906	0.0030	L	0.42245	1.32	0.09310	N	1	B;P	0.49090	0.001;0.919	B;B	0.37550	0.001;0.253	T	0.45381	-0.9265	10	0.37606	T	0.19	.	1.5812	0.02635	0.5433:0.1446:0.172:0.1401	.	125;125	P51587;A1YBP1	BRCA2_HUMAN;.	G	125;125;123	ENSP00000369497:D125G;ENSP00000439902:D125G	ENSP00000369497:D125G	D	+	2	0	BRCA2	31797270	0.001000	0.12720	0.000000	0.03702	0.026000	0.11368	0.534000	0.23098	0.112000	0.17975	0.533000	0.62120	GAT		0.318	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2		NM_000059	
CA14	23632	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	150235516	150235516	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr1:150235516A>G	ENST00000369111.4	+	7	1608	c.638A>G	c.(637-639)aAt>aGt	p.N213S	snoU13_ENST00000458929.1_RNA	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	213					bicarbonate transport (GO:0015701)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|metal ion binding (GO:0046872)	p.N213S(1)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		Acetazolamide(DB00819)|Zonisamide(DB00909)	TTCCGCTACAATGGCTCGCTC	0.517																																																	1	Substitution - Missense(1)	kidney(1)											91.0	89.0	89.0					1																	150235516		2203	4300	6503	SO:0001583	missense	23632			AB025904	CCDS947.1	1q21	2008-02-05			ENSG00000118298	ENSG00000118298		"""Carbonic anhydrases"""	1372	protein-coding gene	gene with protein product		604832				10512682	Standard	XM_005245059		Approved		uc001etx.3	Q9ULX7	OTTHUMG00000012549	ENST00000369111.4:c.638A>G	1.37:g.150235516A>G	ENSP00000358107:p.Asn213Ser	Somatic		WXS	Illumina HiSeq	Phase_I	Q5TB24|Q8NCF4	Missense_Mutation	SNP	ENST00000369111.4	37	CCDS947.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.327532	0.81690	.	.	ENSG00000118298	ENST00000369111	T	0.65549	-0.16	5.65	5.65	0.86999	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.091832	0.64402	D	0.000001	T	0.46347	0.1388	L	0.31804	0.96	0.51233	D	0.999911	D	0.67145	0.996	P	0.53861	0.736	T	0.42515	-0.9447	10	0.11794	T	0.64	.	13.8738	0.63638	1.0:0.0:0.0:0.0	.	213	Q9ULX7	CAH14_HUMAN	S	213	ENSP00000358107:N213S	ENSP00000358107:N213S	N	+	2	0	CA14	148502140	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	8.466000	0.90387	2.371000	0.80710	0.533000	0.62120	AAT		0.517	CA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035064.2		NM_012113	
CAMK2B	816	hgsc.bcm.edu	37	7	44266158	44266159	+	Frame_Shift_Ins	INS	-	-	G	rs200866892	byFrequency	TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr7:44266158_44266159insG	ENST00000395749.2	-	20	1629_1630	c.1553_1554insC	c.(1552-1554)ccgfs	p.P518fs	CAMK2B_ENST00000258682.6_Intron|CAMK2B_ENST00000489429.1_5'UTR|CAMK2B_ENST00000440254.2_Intron|CAMK2B_ENST00000358707.3_Intron|CAMK2B_ENST00000346990.4_Intron|CAMK2B_ENST00000350811.3_Intron|CAMK2B_ENST00000353625.4_Intron|CAMK2B_ENST00000347193.4_Intron|CAMK2B_ENST00000395747.2_Intron|CAMK2B_ENST00000457475.1_Intron|CAMK2B_ENST00000502837.2_Intron	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	518					activation of meiosis involved in egg activation (GO:0060466)|calcium ion transport (GO:0006816)|cytokine-mediated signaling pathway (GO:0019221)|G1/S transition of mitotic cell cycle (GO:0000082)|inhibitory G-protein coupled receptor phosphorylation (GO:0002030)|interferon-gamma-mediated signaling pathway (GO:0060333)|neuromuscular process controlling balance (GO:0050885)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neuron projection development (GO:0010976)|positive regulation of synapse maturation (GO:0090129)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of calcium ion transport (GO:0051924)|regulation of dendritic spine development (GO:0060998)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of skeletal muscle adaptation (GO:0014733)|regulation of synapse structural plasticity (GO:0051823)|regulation of synaptic transmission, cholinergic (GO:0032222)|response to cadmium ion (GO:0046686)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						ATGGGCAGGGCGGGGGCCCCAC	0.703																																																	0																																										SO:0001589	frameshift_variant	816			U50358	CCDS5483.1, CCDS5484.1, CCDS5485.1, CCDS5486.1, CCDS5487.1, CCDS5488.1, CCDS5489.1, CCDS43573.1	7p14.3-p14.1	2008-10-30	2008-10-30		ENSG00000058404	ENSG00000058404			1461	protein-coding gene	gene with protein product	"""CaM-kinase II beta chain"", ""calcium/calmodulin-dependent protein kinase type II beta chain"", ""CaM kinase II beta subunit"", ""proline rich calmodulin-dependent protein kinase"""	607707	"""calcium/calmodulin-dependent protein kinase (CaM kinase) II beta"""	CAMKB			Standard	NM_172079		Approved	CAM2, CAMK2	uc003tkq.2	Q13554	OTTHUMG00000023491	ENST00000395749.2:c.1554dupC	7.37:g.44266163_44266163dupG	ENSP00000379098:p.Pro518fs	Somatic		WXS	Illumina HiSeq	Phase_I	A4D2K0|A4D2K1|A4D2K2|A4D2K3|A4D2K4|A4D2K5|A4D2K6|O95437|O95438|O95599|Q9UGH7|Q9UGH8|Q9UGH9|Q9UNX0|Q9UNX7|Q9UP00|Q9Y5N4|Q9Y6F4	Frame_Shift_Ins	INS	ENST00000395749.2	37	CCDS5483.1																																																																																				0.703	CAMK2B-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251138.2		NM_172084	
CELSR3	1951	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	48697119	48697119	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr3:48697119G>C	ENST00000164024.4	-	1	3229	c.2949C>G	c.(2947-2949)atC>atG	p.I983M	CELSR3_ENST00000544264.1_Missense_Mutation_p.I983M	NM_001407.2	NP_001398.2	Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	983	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				axonal fasciculation (GO:0007413)|cilium assembly (GO:0042384)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of protein localization (GO:0032880)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)	p.I983M(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGTGGCTGAGATCTGCAGGA	0.532																																																	1	Substitution - Missense(1)	kidney(1)											62.0	62.0	62.0					3																	48697119		2203	4300	6503	SO:0001583	missense	1951			AF231023	CCDS2775.1	3p21.31	2014-08-08	2013-02-18		ENSG00000008300	ENSG00000008300		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3230	protein-coding gene	gene with protein product	"""flamingo homolog 1 (Drosophila)"""	604264	"""cadherin EGF LAG seven-pass G-type receptor 3, flamingo (Drosophila) homolog"""	EGFL1		9693030	Standard	NM_001407		Approved	MEGF2, HFMI1, FMI1, CDHF11	uc003cuf.1	Q9NYQ7	OTTHUMG00000133544	ENST00000164024.4:c.2949C>G	3.37:g.48697119G>C	ENSP00000164024:p.Ile983Met	Somatic		WXS	Illumina HiSeq	Phase_I	O75092	Missense_Mutation	SNP	ENST00000164024.4	37	CCDS2775.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.528675	0.44969	.	.	ENSG00000008300	ENST00000164024;ENST00000544264	T;T	0.52983	0.64;0.64	5.78	4.9	0.64082	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.64057	0.2564	M	0.63169	1.94	0.58432	D	0.999997	D;D	0.89917	0.999;1.0	D;D	0.81914	0.992;0.995	T	0.67055	-0.5767	9	0.87932	D	0	.	11.6174	0.51098	0.1422:0.0:0.8578:0.0	.	983;1053	Q9NYQ7;Q5Y190	CELR3_HUMAN;.	M	983	ENSP00000164024:I983M;ENSP00000445694:I983M	ENSP00000164024:I983M	I	-	3	3	CELSR3	48672123	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.352000	0.52239	1.442000	0.47568	0.561000	0.74099	ATC		0.532	CELSR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257523.1		NM_001407	
CEP57	9702	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	95564238	95564238	+	Nonsense_Mutation	SNP	A	A	T			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr11:95564238A>T	ENST00000325542.5	+	11	1559	c.1321A>T	c.(1321-1323)Aaa>Taa	p.K441*	CEP57_ENST00000537677.1_Nonsense_Mutation_p.K414*|CEP57_ENST00000541150.1_Nonsense_Mutation_p.K432*|CEP57_ENST00000325486.5_Nonsense_Mutation_p.K415*	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	441	Mediates interaction with microtubules. {ECO:0000250}.				fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)	p.K441*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAAAGCTACCAAAAAGACTCT	0.368									Mosaic Variegated Aneuploidy Syndrome																																								1	Substitution - Nonsense(1)	kidney(1)											56.0	58.0	57.0					11																	95564238		2201	4298	6499	SO:0001587	stop_gained	9702	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.1321A>T	11.37:g.95564238A>T	ENSP00000317902:p.Lys441*	Somatic		WXS	Illumina HiSeq	Phase_I	A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Nonsense_Mutation	SNP	ENST00000325542.5	37	CCDS8304.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.6|23.6	4.432628|4.432628	0.83776|0.83776	.|.	.|.	ENSG00000166037|ENSG00000166037	ENST00000537677;ENST00000325542;ENST00000325486;ENST00000541150|ENST00000535224	.|.	.|.	.|.	5.89|5.89	5.89|5.89	0.94794|0.94794	.|.	0.482232|.	0.21493|.	N|.	0.073646|.	.|T	.|0.73305	.|0.3570	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.72360	.|-0.4317	.|4	0.87932|.	D|.	0|.	-0.767|-0.767	16.3083|16.3083	0.82859|0.82859	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	414;441;415;432|230	.|.	ENSP00000317487:K415X|.	K|Q	+|+	1|2	0|0	CEP57|CEP57	95203886|95203886	0.891000|0.891000	0.30450|0.30450	0.216000|0.216000	0.23742|0.23742	0.843000|0.843000	0.47879|0.47879	6.071000|6.071000	0.71229|0.71229	2.250000|2.250000	0.74265|0.74265	0.455000|0.455000	0.32223|0.32223	AAA|CAA		0.368	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395983.1		NM_014679	
CEP57	9702	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	95564248	95564248	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr11:95564248T>C	ENST00000325542.5	+	11	1569	c.1331T>C	c.(1330-1332)cTt>cCt	p.L444P	CEP57_ENST00000537677.1_Missense_Mutation_p.L417P|CEP57_ENST00000541150.1_Missense_Mutation_p.L435P|CEP57_ENST00000325486.5_Missense_Mutation_p.L418P	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	444	Mediates interaction with microtubules. {ECO:0000250}.				fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule anchoring (GO:0034453)|mitotic cell cycle (GO:0000278)|protein homooligomerization (GO:0051260)|protein import into nucleus, translocation (GO:0000060)|spermatid development (GO:0007286)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	fibroblast growth factor binding (GO:0017134)|protein homodimerization activity (GO:0042803)	p.L444P(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AAAAAGACTCTTGATGAAGAA	0.373									Mosaic Variegated Aneuploidy Syndrome																																								1	Substitution - Missense(1)	kidney(1)											56.0	58.0	57.0					11																	95564248		2201	4298	6499	SO:0001583	missense	9702	Familial Cancer Database	MVA, MVA syndrome, VMA syndrome, variegated mosaic aneuploidy syndrome, premature centromere division	D42054	CCDS8304.1, CCDS58166.1, CCDS58167.1	11q21	2014-09-17			ENSG00000166037	ENSG00000166037			30794	protein-coding gene	gene with protein product		607951				7788527	Standard	NM_014679		Approved	Translokin, TSP57, KIAA0092	uc001pfp.2	Q86XR8	OTTHUMG00000167740	ENST00000325542.5:c.1331T>C	11.37:g.95564248T>C	ENSP00000317902:p.Leu444Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A0PJH1|A8K5D0|B4DDP5|F5H5F7|Q14704|Q5JB46|Q8IXP0|Q9BVF9	Missense_Mutation	SNP	ENST00000325542.5	37	CCDS8304.1	.	.	.	.	.	.	.	.	.	.	T	7.971	0.749132	0.15710	.	.	ENSG00000166037	ENST00000537677;ENST00000325542;ENST00000325486;ENST00000541150	T;T;T;T	0.33654	1.41;1.4;1.41;1.4	5.89	4.74	0.60224	.	0.984925	0.08296	N	0.967652	T	0.33118	0.0852	L	0.51422	1.61	0.47584	D	0.999465	B;B;B	0.06786	0.001;0.001;0.001	B;B;B	0.09377	0.004;0.002;0.002	T	0.30563	-0.9974	10	0.87932	D	0	-6.2315	4.5921	0.12312	0.0:0.2264:0.1571:0.6165	.	435;418;444	F5H5F7;Q86XR8-2;Q86XR8	.;.;CEP57_HUMAN	P	417;444;418;435	ENSP00000441392:L417P;ENSP00000317902:L444P;ENSP00000317487:L418P;ENSP00000443436:L435P	ENSP00000317487:L418P	L	+	2	0	CEP57	95203896	0.996000	0.38824	0.999000	0.59377	0.734000	0.41952	1.170000	0.31883	1.019000	0.39547	0.455000	0.32223	CTT		0.373	CEP57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395983.1		NM_014679	
COL6A6	131873	hgsc.bcm.edu;ucsc.edu	37	3	130287096	130287096	+	Silent	SNP	C	C	T	rs61730501	byFrequency	TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr3:130287096C>T	ENST00000358511.6	+	5	2080	c.2049C>T	c.(2047-2049)agC>agT	p.S683S	COL6A6_ENST00000453409.2_Silent_p.S683S	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	683	Nonhelical region.|VWFA 4. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGTCCCAAAGCGACATTTCAA	0.478													C|||	67	0.0133786	0.0477	0.0029	5008	,	,		20256	0.0		0.001	False		,,,				2504	0.001																0								C		128,3762		1,126,1818	153.0	152.0	152.0		2049	-11.5	0.0	3	dbSNP_129	152	1,8267		0,1,4133	no	coding-synonymous	COL6A6	NM_001102608.1		1,127,5951	TT,TC,CC		0.0121,3.2905,1.061		683/2264	130287096	129,12029	1945	4134	6079	SO:0001819	synonymous_variant	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.2049C>T	3.37:g.130287096C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Silent	SNP	ENST00000358511.6	37	CCDS46911.1																																																																																				0.478	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5		NM_001102608	
CPSF1	29894	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	145634429	145634429	+	Silent	SNP	G	G	C			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr8:145634429G>C	ENST00000349769.3	-	2	208	c.114C>G	c.(112-114)ctC>ctG	p.L38L	GS1-393G12.14_ENST00000607491.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	38					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)	p.L38L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GGTACACGTAGAGCTGCGAGG	0.652																																					NSCLC(133;1088 1848 27708 34777 35269)												1	Substitution - coding silent(1)	kidney(1)											106.0	102.0	104.0					8																	145634429		2203	4300	6503	SO:0001819	synonymous_variant	29894			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.114C>G	8.37:g.145634429G>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q96AF0	Silent	SNP	ENST00000349769.3	37	CCDS34966.1																																																																																				0.652	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382422.2		NM_013291	
CWC15	51503	hgsc.bcm.edu	37	11	94699507	94699508	+	Splice_Site	INS	-	-	T	rs200166995|rs34805065		TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr11:94699507_94699508insT	ENST00000279839.6	-	6	633		c.e6+1		CWC15_ENST00000545018.1_5'UTR	NM_016403.3	NP_057487.2	Q9P013	CWC15_HUMAN	CWC15 spliceosome-associated protein						mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	RNA binding (GO:0003723)						Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GGCCAGTGAGATAAGGAGAGGG	0.431													TT|T|TT|deletion	5008	1.0	1.0	1.0	5008	,	,		15235	1.0		1.0	False		,,,				2504	1.0																0										3725,17		1857,11,3						2.5	1.0		dbSNP_130	139	7864,26		3921,22,2	no	frameshift	CWC15	NM_016403.3		5778,33,5	A1A1,A1R,RR		0.3295,0.4543,0.3697				11589,43				SO:0001630	splice_region_variant	51503			AF161497	CCDS73369.1	11q21	2014-07-03	2014-07-03			ENSG00000150316			26939	protein-coding gene	gene with protein product			"""CWC15 homolog (S. cerevisiae)"", ""CWC15 spliceosome-associated protein homolog (S. cerevisiae)"""			10873569, 11884590	Standard	NM_016403		Approved	C11orf5, HSPC148, Cwf15, AD002	uc001pfd.4	Q9P013		ENST00000279839.6:c.510+1->A	11.37:g.94699508_94699508dupT		Somatic		WXS	Illumina HiSeq	Phase_I	B2RC17|Q05BV9|Q05DM1|Q9UI29	Frame_Shift_Ins	INS	ENST00000279839.6	37																																																																																					0.431	CWC15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_016403	Intron
DBN1	1627	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	176893974	176893974	+	Silent	SNP	C	C	A			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr5:176893974C>A	ENST00000309007.5	-	7	864	c.645G>T	c.(643-645)cgG>cgT	p.R215R	DBN1_ENST00000292385.5_Silent_p.R217R|DBN1_ENST00000393565.1_Silent_p.R215R	NM_004395.3	NP_004386	Q16643	DREB_HUMAN	drebrin 1	215					actin filament organization (GO:0007015)|cell communication by chemical coupling (GO:0010643)|cell communication by electrical coupling (GO:0010644)|maintenance of protein location in cell (GO:0032507)|neural precursor cell proliferation (GO:0061351)|regulation of dendrite development (GO:0050773)|regulation of neuronal synaptic plasticity (GO:0048168)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|gap junction (GO:0005921)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|profilin binding (GO:0005522)	p.R217R(1)|p.R215R(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTGCTCCTGCCGCTCCTGCT	0.692																																																	2	Substitution - coding silent(2)	kidney(2)											52.0	53.0	53.0					5																	176893974		2203	4300	6503	SO:0001819	synonymous_variant	1627				CCDS4420.1, CCDS4421.1	5q35.3	2008-02-05			ENSG00000113758	ENSG00000113758			2695	protein-coding gene	gene with protein product		126660		D0S117E		8216329	Standard	NM_004395		Approved		uc003mgy.2	Q16643	OTTHUMG00000130856	ENST00000309007.5:c.645G>T	5.37:g.176893974C>A		Somatic		WXS	Illumina HiSeq	Phase_I	A8MV58|B2RBG0|Q9UFZ5	Silent	SNP	ENST00000309007.5	37	CCDS4420.1																																																																																				0.692	DBN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000253429.2		NM_080881	
DDX24	57062	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	94517732	94517732	+	Silent	SNP	C	C	A			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr14:94517732C>A	ENST00000330836.5	-	9	2516	c.2385G>T	c.(2383-2385)ctG>ctT	p.L795L	DDX24_ENST00000555054.1_Silent_p.L752L|DDX24_ENST00000553400.1_5'UTR|DDX24_ENST00000544005.1_Silent_p.L545L	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	795					RNA metabolic process (GO:0016070)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)	p.L795L(1)		cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GCTGGGACAGCAGGTGGCGCA	0.517											OREG0022891	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - coding silent(1)	kidney(1)											128.0	112.0	117.0					14																	94517732		2203	4300	6503	SO:0001819	synonymous_variant	57062			AF214731	CCDS9918.1	14q32	2013-07-16	2013-07-16			ENSG00000089737		"""DEAD-boxes"""	13266	protein-coding gene	gene with protein product		606181	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 24"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 24"""			10936056, 18289627	Standard	NM_020414		Approved		uc001ycj.3	Q9GZR7		ENST00000330836.5:c.2385G>T	14.37:g.94517732C>A		Somatic	1306	WXS	Illumina HiSeq	Phase_I	E7EMJ4|Q4V9L5	Silent	SNP	ENST00000330836.5	37	CCDS9918.1																																																																																				0.517	DDX24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412861.1		NM_020414	
DPP6	1804	hgsc.bcm.edu;ucsc.edu	37	7	154561188	154561188	+	Silent	SNP	C	C	T	rs56091483	byFrequency	TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr7:154561188C>T	ENST00000377770.3	+	9	1086	c.945C>T	c.(943-945)taC>taT	p.Y315Y	DPP6_ENST00000427557.1_Silent_p.Y208Y|DPP6_ENST00000332007.3_Silent_p.Y253Y|DPP6_ENST00000404039.1_Silent_p.Y251Y			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	315					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			GACTCGCCTACGCCGCCATCA	0.522													C|||	485	0.096845	0.1104	0.0533	5008	,	,		18877	0.12		0.0964	False		,,,				2504	0.0859				NSCLC(125;1384 1783 2490 7422 34254)												0								C	,,	422,3630		26,370,1630	75.0	79.0	78.0		399,318,318	-4.7	0.9	7	dbSNP_129	78	671,7673		27,617,3528	no	coding-synonymous,coding-synonymous,coding-synonymous	DPP6	NM_001039350.1,NM_001936.3,NM_130797.2	,,	53,987,5158	TT,TC,CC		8.0417,10.4146,8.8174	,,	133/684,106/657,106/657	154561188	1093,11303	2026	4172	6198	SO:0001819	synonymous_variant	1804			M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.945C>T	7.37:g.154561188C>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000377770.3	37																																																																																					0.522	DPP6-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000322932.1		NM_130797	
F12	2161	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	176831333	176831333	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr5:176831333C>A	ENST00000253496.3	-	9	930	c.882G>T	c.(880-882)caG>caT	p.Q294H	F12_ENST00000514943.1_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	294	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)	p.Q294H(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	GGGTCTGGCACTGTGCCAGGT	0.692									Hereditary Angioedema		OREG0017088	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	kidney(1)											17.0	21.0	20.0					5																	176831333		2200	4295	6495	SO:0001583	missense	2161	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.882G>T	5.37:g.176831333C>A	ENSP00000253496:p.Gln294His	Somatic	1934	WXS	Illumina HiSeq	Phase_I	P78339	Missense_Mutation	SNP	ENST00000253496.3	37	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890719	0.72524	.	.	ENSG00000131187	ENST00000253496	T	0.67523	-0.27	5.45	-2.16	0.07080	Kringle (5);Kringle-like fold (1);	0.971785	0.08388	N	0.953400	T	0.65821	0.2728	M	0.65498	2.005	0.80722	D	1	P	0.49696	0.927	P	0.52109	0.69	T	0.66814	-0.5828	10	0.48119	T	0.1	.	0.6653	0.00849	0.1979:0.2926:0.1691:0.3404	.	294	P00748	FA12_HUMAN	H	294	ENSP00000253496:Q294H	ENSP00000253496:Q294H	Q	-	3	2	F12	176763939	0.000000	0.05858	0.058000	0.19502	0.275000	0.26752	-1.012000	0.03649	-0.148000	0.11234	0.561000	0.74099	CAG		0.692	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1			
FAM83G	644815	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	18907263	18907263	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr17:18907263T>C	ENST00000388995.6	-	2	315	c.92A>G	c.(91-93)cAg>cGg	p.Q31R	FAM83G_ENST00000345041.4_Missense_Mutation_p.Q31R|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.Q31R|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	31					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.Q31R(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CGCCAGCCGCTGCTCCTCGCT	0.652																																																	1	Substitution - Missense(1)	kidney(1)											25.0	31.0	29.0					17																	18907263		2089	4217	6306	SO:0001583	missense	644815			AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.92A>G	17.37:g.18907263T>C	ENSP00000373647:p.Gln31Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q3KQZ4|Q6ZW60	Missense_Mutation	SNP	ENST00000388995.6	37	CCDS42276.1	.	.	.	.	.	.	.	.	.	.	T	16.90	3.251212	0.59212	.	.	ENSG00000188522	ENST00000388995;ENST00000345041;ENST00000399096	T;T	0.12039	2.72;2.72	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	T	0.29945	0.0749	L	0.56769	1.78	0.58432	D	0.999997	D	0.76494	0.999	D	0.83275	0.996	T	0.08391	-1.0724	10	0.08837	T	0.75	-28.717	14.977	0.71281	0.0:0.0:0.0:1.0	.	31	A6ND36	FA83G_HUMAN	R	31	ENSP00000373647:Q31R;ENSP00000343279:Q31R	ENSP00000343279:Q31R	Q	-	2	0	FAM83G	18847988	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.204000	0.72143	1.960000	0.56953	0.402000	0.26972	CAG		0.652	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			
FAT3	120114	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	92590423	92590423	+	Silent	SNP	G	G	A			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr11:92590423G>A	ENST00000298047.6	+	19	11426	c.11409G>A	c.(11407-11409)ccG>ccA	p.P3803P	FAT3_ENST00000533797.1_Silent_p.P138P|FAT3_ENST00000409404.2_Silent_p.P3803P|FAT3_ENST00000525166.1_Silent_p.P3653P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3803	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.P3803P(2)|p.P378P(1)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGGAGAAGCCGTGTCCAGGGG	0.557										TCGA Ovarian(4;0.039)																																							3	Substitution - coding silent(3)	kidney(3)											116.0	121.0	119.0					11																	92590423		2018	4187	6205	SO:0001819	synonymous_variant	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.11409G>A	11.37:g.92590423G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37																																																																																					0.557	FAT3-201	KNOWN	basic	protein_coding	protein_coding			NM_001008781	
HTR7	3363	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	92508881	92508881	+	Missense_Mutation	SNP	G	G	T	rs563848390		TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr10:92508881G>T	ENST00000336152.3	-	2	1036	c.1010C>A	c.(1009-1011)aCc>aAc	p.T337N	HTR7_ENST00000371719.2_Missense_Mutation_p.T337N|HTR7_ENST00000277874.6_Missense_Mutation_p.T337N|HTR7_ENST00000371721.3_Missense_Mutation_p.T337N	NM_019859.3	NP_062873.1	P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	337					blood circulation (GO:0008015)|circadian rhythm (GO:0007623)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|serotonin receptor signaling pathway (GO:0007210)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.T337N(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Amisulpride(DB06288)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Dopamine(DB00988)|Eletriptan(DB00216)|Epinastine(DB00751)|Ergoloid mesylate(DB01049)|Iloperidone(DB04946)|Imipramine(DB00458)|Loxapine(DB00408)|Lurasidone(DB08815)|Maprotiline(DB00934)|Methysergide(DB00247)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Quetiapine(DB01224)|Ziprasidone(DB00246)	CCAGCACACGGTAAAGGCCCC	0.532																																																	2	Substitution - Missense(2)	kidney(2)											81.0	74.0	76.0					10																	92508881		2203	4300	6503	SO:0001583	missense	3363			BC047526	CCDS7408.1, CCDS7409.1, CCDS7410.1	10q21-q24	2012-08-08	2012-02-03		ENSG00000148680	ENSG00000148680		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5302	protein-coding gene	gene with protein product		182137	"""5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled)"""			8226867	Standard	NM_000872		Approved	5-HT7	uc001kha.3	P34969	OTTHUMG00000018732	ENST00000336152.3:c.1010C>A	10.37:g.92508881G>T	ENSP00000337949:p.Thr337Asn	Somatic		WXS	Illumina HiSeq	Phase_I	B5BUP6|P78336|P78372|P78516|Q5VX01|Q5VX02|Q5VX03	Missense_Mutation	SNP	ENST00000336152.3	37	CCDS7408.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657031	0.88154	.	.	ENSG00000148680	ENST00000336152;ENST00000277874;ENST00000371719;ENST00000371721	T;T;T;T	0.72725	-0.68;-0.68;-0.68;-0.68	5.35	5.35	0.76521	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.85106	0.5621	M	0.89601	3.045	0.80722	D	1	D;D	0.61080	0.981;0.989	P;P	0.56398	0.797;0.797	D	0.88349	0.2980	10	0.72032	D	0.01	.	19.0553	0.93062	0.0:0.0:1.0:0.0	.	337;337	P34969;P34969-2	5HT7R_HUMAN;.	N	337	ENSP00000337949:T337N;ENSP00000277874:T337N;ENSP00000360784:T337N;ENSP00000360786:T337N	ENSP00000277874:T337N	T	-	2	0	HTR7	92498861	1.000000	0.71417	0.963000	0.40424	0.993000	0.82548	7.877000	0.87225	2.499000	0.84300	0.650000	0.86243	ACC		0.532	HTR7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049343.1		NM_000872	
HYAL2	8692	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	50357640	50357640	+	Missense_Mutation	SNP	C	C	G			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr3:50357640C>G	ENST00000447092.1	-	1	2573	c.281G>C	c.(280-282)aGg>aCg	p.R94T	HYAL2_ENST00000442581.1_Missense_Mutation_p.R94T|HYAL2_ENST00000357750.4_Missense_Mutation_p.R94T|HYAL2_ENST00000395139.3_Missense_Mutation_p.R94T|TUSC2_ENST00000462137.1_5'UTR			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	94					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|defense response to virus (GO:0051607)|fusion of virus membrane with host plasma membrane (GO:0019064)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|kidney development (GO:0001822)|monocyte activation (GO:0042117)|multicellular organismal aging (GO:0010259)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|transformation of host cell by virus (GO:0019087)|viral entry into host cell (GO:0046718)	anchored component of external side of plasma membrane (GO:0031362)|anchored component of plasma membrane (GO:0046658)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|lysosome (GO:0005764)|membrane raft (GO:0045121)|microvillus (GO:0005902)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|hyaluronic acid binding (GO:0005540)|hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)|receptor signaling protein tyrosine kinase inhibitor activity (GO:0030294)|receptor tyrosine kinase binding (GO:0030971)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)	p.R94T(1)		breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ATGCACAGACCTTCCGGCAGA	0.537																																																	1	Substitution - Missense(1)	kidney(1)											80.0	70.0	74.0					3																	50357640		2203	4300	6503	SO:0001583	missense	8692			AJ000099	CCDS2818.1	3p21.3	2008-07-18			ENSG00000068001	ENSG00000068001			5321	protein-coding gene	gene with protein product	"""lysosomal hyaluronidase"", ""PH-20 homolog"", ""hyaluronidase 2"""	603551				9712871, 9790770	Standard	NM_003773		Approved	LuCa-2, LUCA2	uc003czv.3	Q12891	OTTHUMG00000156876	ENST00000447092.1:c.281G>C	3.37:g.50357640C>G	ENSP00000401853:p.Arg94Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B3KRZ2|O15177|Q9BW29	Missense_Mutation	SNP	ENST00000447092.1	37	CCDS2818.1	.	.	.	.	.	.	.	.	.	.	C	5.560	0.288224	0.10513	.	.	ENSG00000068001	ENST00000447092;ENST00000357750;ENST00000395139;ENST00000442581;ENST00000458018;ENST00000424190	T;T;T;T;T;T	0.21361	2.01;2.01;2.01;2.01;2.01;2.01	5.93	-7.72	0.01250	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	1.088380	0.06813	N	0.790768	T	0.05090	0.0136	N	0.02721	-0.515	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.33085	-0.9882	10	0.13853	T	0.58	-1.2735	0.8419	0.01152	0.3447:0.1481:0.1332:0.374	.	94;94	B3KRZ2;Q12891	.;HYAL2_HUMAN	T	94	ENSP00000401853:R94T;ENSP00000350387:R94T;ENSP00000378571:R94T;ENSP00000406657:R94T;ENSP00000399677:R94T;ENSP00000398714:R94T	ENSP00000350387:R94T	R	-	2	0	HYAL2	50332644	0.000000	0.05858	0.000000	0.03702	0.397000	0.30659	-1.751000	0.01821	-1.052000	0.03222	0.557000	0.71058	AGG		0.537	HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346391.1		NM_003773	
IRS1	3667	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	227661146	227661146	+	Missense_Mutation	SNP	G	G	T			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr2:227661146G>T	ENST00000305123.5	-	1	3329	c.2309C>A	c.(2308-2310)tCc>tAc	p.S770Y	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	770					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.S770Y(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GTGCTTAAAGGATCTTGGCAA	0.627																																																	1	Substitution - Missense(1)	kidney(1)											129.0	149.0	142.0					2																	227661146		2203	4300	6503	SO:0001583	missense	3667				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2309C>A	2.37:g.227661146G>T	ENSP00000304895:p.Ser770Tyr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000305123.5	37	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	G	18.42	3.619931	0.66787	.	.	ENSG00000169047	ENST00000305123	T	0.74737	-0.87	4.85	4.85	0.62838	.	0.000000	0.64402	D	0.000001	D	0.82788	0.5113	L	0.55213	1.73	0.44685	D	0.997677	D	0.71674	0.998	D	0.65573	0.936	T	0.83200	-0.0079	10	0.49607	T	0.09	-17.0733	18.1615	0.89709	0.0:0.0:1.0:0.0	.	770	P35568	IRS1_HUMAN	Y	770	ENSP00000304895:S770Y	ENSP00000304895:S770Y	S	-	2	0	IRS1	227369390	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.287000	0.78681	2.526000	0.85167	0.561000	0.74099	TCC		0.627	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3		NM_005544	
PLA2G4B	100137049	broad.mit.edu	37	15	42137191	42137191	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr15:42137191G>A	ENST00000452633.1	+	14	1514	c.1162G>A	c.(1162-1164)Gag>Aag	p.E388K	JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.E619K|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.E388K|PLA2G4B_ENST00000542534.2_Missense_Mutation_p.E619K|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.E619K			P0C869	PA24B_HUMAN	phospholipase A2, group IVB (cytosolic)	388	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|arachidonic acid metabolic process (GO:0019369)|calcium-mediated signaling (GO:0019722)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|parturition (GO:0007567)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)	p.E619K(2)					all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		GGAGCTGGCCGAGCGTGCCCG	0.677																																																	2	Substitution - Missense(2)	lung(1)|kidney(1)											18.0	19.0	18.0					15																	42137191		2199	4292	6491	SO:0001583	missense	8681			AF065215	CCDS45241.1	15q11.2-q21.3	2010-08-17			ENSG00000243708	ENSG00000243708	3.1.1.4		9036	protein-coding gene	gene with protein product		606088				9705332	Standard	NM_001114633		Approved	cPLA2-beta, HsT16992		P0C869	OTTHUMG00000156809	ENST00000452633.1:c.1162G>A	15.37:g.42137191G>A	ENSP00000396045:p.Glu388Lys	Somatic		WXS	Illumina GAIIx	Phase_I	B4DRT9|O95712|Q19KD5|Q19KD6|Q59GF9|Q8TB10|Q9UKV7	Missense_Mutation	SNP	ENST00000452633.1	37	CCDS45241.1	.	.	.	.	.	.	.	.	.	.	.	4.620	0.115312	0.08831	.	.	ENSG00000168970;ENSG00000168970;ENSG00000168970;ENSG00000243708	ENST00000382448;ENST00000342159;ENST00000458483;ENST00000452633	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	5.51	4.6	0.57074	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (3);	0.071496	0.53938	N	0.000055	T	0.07908	0.0198	L	0.49455	1.56	0.36235	D	0.85289	B;B;B;P	0.46578	0.015;0.019;0.005;0.88	B;B;B;B	0.34180	0.016;0.012;0.006;0.177	T	0.33904	-0.9850	10	0.27785	T	0.31	-26.4936	6.3345	0.21289	0.1614:0.1524:0.6862:0.0	.	388;619;89;619	P0C869;P0C869-7;P0C869-4;P0C869-6	PA24B_HUMAN;.;.;.	K	619;619;388;388	ENSP00000371886:E619K;ENSP00000342785:E619K;ENSP00000416610:E388K;ENSP00000396045:E388K	ENSP00000342785:E619K	E	+	1	0	JMJD7-PLA2G4B;PLA2G4B	39924483	0.508000	0.26154	0.881000	0.34555	0.075000	0.17131	0.626000	0.24492	1.479000	0.48272	0.561000	0.74099	GAG		0.677	PLA2G4B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000345969.1		NM_001114633	
JPH3	57338	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	87677876	87677876	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr16:87677876G>A	ENST00000284262.2	+	2	637	c.395G>A	c.(394-396)gGc>gAc	p.G132D		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	132	Gly-rich.				calcium ion transport into cytosol (GO:0060402)|exploration behavior (GO:0035640)|learning (GO:0007612)|locomotion (GO:0040011)|memory (GO:0007613)|neuromuscular process controlling balance (GO:0050885)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)	calcium-release channel activity (GO:0015278)	p.G132D(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		ACCTACCAGGGCCAGTGGGTC	0.667																																																	1	Substitution - Missense(1)	kidney(1)											40.0	46.0	44.0					16																	87677876		2189	4285	6474	SO:0001583	missense	57338			AB042636	CCDS10962.1	16q24.3	2008-02-05	2002-11-13		ENSG00000154118	ENSG00000154118			14203	protein-coding gene	gene with protein product		605268	"""trinucleotide repeat containing 22"""	TNRC22		10949023, 10891348	Standard	NM_020655		Approved	JP-3, CAGL237, HDL2, JP3	uc002fkd.4	Q8WXH2	OTTHUMG00000137656	ENST00000284262.2:c.395G>A	16.37:g.87677876G>A	ENSP00000284262:p.Gly132Asp	Somatic		WXS	Illumina HiSeq	Phase_I	D3DUN2|Q8N471|Q9HDC3|Q9HDC4	Missense_Mutation	SNP	ENST00000284262.2	37	CCDS10962.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.619370	0.87460	.	.	ENSG00000154118	ENST00000284262	D	0.95588	-3.75	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.98836	0.9607	H	0.99211	4.47	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99453	1.0941	10	0.87932	D	0	.	17.0497	0.86515	0.0:0.0:1.0:0.0	.	132	Q8WXH2	JPH3_HUMAN	D	132	ENSP00000284262:G132D	ENSP00000284262:G132D	G	+	2	0	JPH3	86235377	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.518000	0.98022	2.334000	0.79466	0.462000	0.41574	GGC		0.667	JPH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269108.2			
KDM5C	8242	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	53231127	53231127	+	Missense_Mutation	SNP	T	T	A			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chrX:53231127T>A	ENST00000375401.3	-	13	2307	c.1775A>T	c.(1774-1776)gAg>gTg	p.E592V	KDM5C_ENST00000404049.3_Missense_Mutation_p.E591V|KDM5C_ENST00000375379.3_Missense_Mutation_p.E592V|KDM5C_ENST00000375383.3_Missense_Mutation_p.E551V|KDM5C_ENST00000452825.3_Missense_Mutation_p.E525V|KDM5C_ENST00000465402.1_5'UTR	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	592	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				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.E525V(1)|p.E592V(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						GATGACAAACTCTCCTGCACA	0.498			"""N, F, S"""		clear cell renal carcinoma																																			Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	2	Substitution - Missense(2)	kidney(2)											121.0	104.0	110.0					X																	53231127		2203	4300	6503	SO:0001583	missense	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.1775A>T	X.37:g.53231127T>A	ENSP00000364550:p.Glu592Val	Somatic		WXS	Illumina HiSeq	Phase_I	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.856970	0.91433	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03	5.68	5.68	0.88126	Transcription factor jumonji/aspartyl beta-hydroxylase (2);Transcription factor jumonji (1);	0.000000	0.85682	D	0.000000	D	0.87744	0.6254	H	0.96805	3.885	0.80722	D	1	P;B;B	0.45240	0.854;0.45;0.45	P;B;B	0.47299	0.543;0.426;0.426	D	0.90884	0.4756	10	0.87932	D	0	-5.7073	12.6825	0.56930	0.0:0.0:0.0:1.0	.	525;591;592	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	V	525;592;591;592;551	ENSP00000445176:E525V;ENSP00000364550:E592V;ENSP00000385394:E591V;ENSP00000364528:E592V;ENSP00000364532:E551V	ENSP00000364528:E592V	E	-	2	0	KDM5C	53247852	1.000000	0.71417	0.999000	0.59377	0.976000	0.68499	8.040000	0.89188	1.902000	0.55061	0.486000	0.48141	GAG		0.498	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2		NM_004187	
KIAA1598	57698	broad.mit.edu	37	10	118645923	118645923	+	Missense_Mutation	SNP	C	C	T	rs368002468		TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr10:118645923C>T	ENST00000355371.4	-	17	2325	c.1828G>A	c.(1828-1830)Gaa>Aaa	p.E610K	KIAA1598_ENST00000392903.2_Missense_Mutation_p.E610K|KIAA1598_ENST00000260777.10_3'UTR|KIAA1598_ENST00000497044.1_5'UTR|ENO4_ENST00000369207.2_Intron	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	610					axon guidance (GO:0007411)|regulation of establishment of cell polarity (GO:2000114)|regulation of neuron migration (GO:2001222)	axonal growth cone (GO:0044295)		p.E610K(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		GGTTGAATTTCGCCTTCATCC	0.433																																																	1	Substitution - Missense(1)	kidney(1)						C	LYS/GLU,	2,1382		0,2,690	385.0	286.0	316.0		1828,	-4.4	0.0	10		316	0,3182		0,0,1591	no	missense,utr-3	KIAA1598	NM_001127211.1,NM_018330.5	56,	0,2,2281	TT,TC,CC		0.0,0.1445,0.0438	benign,	610/632,	118645923	2,4564	692	1591	2283	SO:0001583	missense	57698			BC022348	CCDS31293.1, CCDS44482.1, CCDS58097.1, CCDS73207.1, CCDS73208.1	10q26.12	2007-01-30			ENSG00000187164	ENSG00000187164			29319	protein-coding gene	gene with protein product		611171				10997877, 17030985	Standard	NM_001127211		Approved	shootin1, shootin-1	uc009xyw.4	A0MZ66	OTTHUMG00000019114	ENST00000355371.4:c.1828G>A	10.37:g.118645923C>T	ENSP00000347532:p.Glu610Lys	Somatic		WXS	Illumina GAIIx	Phase_I	A8MYU7|B3KRD3|B3KRH2|B3KTE0|B3KTJ7|B3KTJ8|B4E3U1|B7Z7Z9|Q68DG1|Q6PIM5|Q9HCH4|Q9NUV0	Missense_Mutation	SNP	ENST00000355371.4	37	CCDS44482.1	.	.	.	.	.	.	.	.	.	.	C	0.532	-0.857596	0.02630	0.001445	0.0	ENSG00000187164	ENST00000392903;ENST00000355371	.	.	.	5.77	-4.37	0.03633	.	1.301940	0.04721	N	0.419439	T	0.20740	0.0499	N	0.04508	-0.205	0.09310	N	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.31779	-0.9931	9	0.12103	T	0.63	-2.0E-4	13.7329	0.62799	0.0:0.3668:0.0:0.6332	.	610;580	A0MZ66;A0MZ66-6	SHOT1_HUMAN;.	K	610	.	ENSP00000347532:E610K	E	-	1	0	KIAA1598	118635913	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.265000	0.08644	-1.024000	0.03338	-2.018000	0.00433	GAA		0.433	KIAA1598-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_018330	
KRT1	3848	broad.mit.edu	37	12	53069236	53069256	+	In_Frame_Del	DEL	TAGCTGCTACCTCCGGAGCCA	TAGCTGCTACCTCCGGAGCCA	-	rs371843007|rs77846840|rs540699806|rs267607656	byFrequency	TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	TAGCTGCTACCTCCGGAGCCA	TAGCTGCTACCTCCGGAGCCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr12:53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENST00000252244.3	-	9	1714_1734	c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	c.(1654-1677)tatggctccggaggtagcagctac>tac	p.552_559YGSGGSSY>Y		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	552	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)	p.S557_G563delSSYGSGG(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						tccggagccgtagctgctacctccggagccatagctgccac	0.688																																																	3	Deletion - In frame(3)	prostate(2)|central_nervous_system(1)								1239,2109		396,447,831				http://www.ncbi.nlm.nih.gov/sites/varvu?gene		-4.4	0.0		dbSNP_129	4	2732,4060		826,1080,1490	no	coding	KRT1	NM_006121.3		1222,1527,2321	A1A1,A1R,RR		40.2238,37.0072,39.1617				3971,6169				SO:0001651	inframe_deletion	3848			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1656_1676delTGGCTCCGGAGGTAGCAGCTA	12.37:g.53069236_53069256delTAGCTGCTACCTCCGGAGCCA	ENSP00000252244:p.Tyr552_Ser558del	Somatic		WXS	Illumina GAIIx	Phase_I	B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	In_Frame_Del	DEL	ENST00000252244.3	37	CCDS8836.1																																																																																				0.688	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405706.1		NM_006121	
LHFPL1	340596	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	111874741	111874741	+	Frame_Shift_Del	DEL	A	A	-			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chrX:111874741delA	ENST00000371968.3	-	4	809	c.570delT	c.(568-570)gctfs	p.A190fs	LHFPL1_ENST00000536453.1_Frame_Shift_Del_p.A157fs|LHFPL1_ENST00000478229.1_5'UTR	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	190						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						GGTTTCTTCCAGCAAAGCAAG	0.507																																																	0													94.0	84.0	88.0					X																	111874741		2203	4300	6503	SO:0001589	frameshift_variant	340596			AY217350	CCDS14562.1	Xq23	2008-02-05			ENSG00000182508	ENSG00000182508			6587	protein-coding gene	gene with protein product		300566				10329012	Standard	NM_178175		Approved		uc004epq.3	Q86WI0	OTTHUMG00000022214	ENST00000371968.3:c.570delT	X.37:g.111874741delA	ENSP00000361036:p.Ala190fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K1N1|Q496M9|Q496N0|Q6UXU2	Frame_Shift_Del	DEL	ENST00000371968.3	37	CCDS14562.1																																																																																				0.507	LHFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057947.1		NM_178175	
Unknown	0	broad.mit.edu	37	5	99715528	99715528	+	IGR	SNP	C	C	T			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr5:99715528C>T								RNU6-1119P (226045 upstream) : RP11-346J10.1 (21616 downstream)																							AGCGGACAGTCGAAGCCCTTC	0.607																																																	0																																										SO:0001628	intergenic_variant	100133050																															5.37:g.99715528C>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP		37																																																																																				0	0.607									
LOXL2	4017	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	23217701	23217701	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr8:23217701C>T	ENST00000389131.3	-	3	802	c.433G>A	c.(433-435)Gtc>Atc	p.V145I	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	145	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)	p.V145I(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CAGTCAGTGACGCCCCAGCCA	0.542																																																	1	Substitution - Missense(1)	kidney(1)											92.0	74.0	80.0					8																	23217701		2203	4300	6503	SO:0001583	missense	4017			U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.433G>A	8.37:g.23217701C>T	ENSP00000373783:p.Val145Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Missense_Mutation	SNP	ENST00000389131.3	37	CCDS34864.1	.	.	.	.	.	.	.	.	.	.	C	24.4	4.529246	0.85706	.	.	ENSG00000134013	ENST00000389131;ENST00000524144;ENST00000520871;ENST00000518083	T;T;T;T	0.53206	0.63;0.63;0.63;1.31	5.62	5.62	0.85841	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.000000	0.85682	D	0.000000	T	0.43188	0.1236	L	0.43152	1.355	0.58432	D	0.999995	B	0.27316	0.175	B	0.24394	0.053	T	0.18461	-1.0336	10	0.30854	T	0.27	.	18.5877	0.91196	0.0:1.0:0.0:0.0	.	145	Q9Y4K0	LOXL2_HUMAN	I	145;226;186;145	ENSP00000373783:V145I;ENSP00000427883:V226I;ENSP00000429778:V186I;ENSP00000430519:V145I	ENSP00000373783:V145I	V	-	1	0	LOXL2	23273646	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.810000	0.62598	2.804000	0.96469	0.655000	0.94253	GTC		0.542	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375603.1			
LRRC16A	55604	broad.mit.edu;ucsc.edu	37	6	25509937	25509937	+	Silent	SNP	C	C	T			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr6:25509937C>T	ENST00000329474.6	+	18	1817	c.1449C>T	c.(1447-1449)aaC>aaT	p.N483N		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	483					actin filament organization (GO:0007015)|barbed-end actin filament uncapping (GO:0051638)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|lamellipodium assembly (GO:0030032)|negative regulation of barbed-end actin filament capping (GO:2000813)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell migration (GO:0030335)|positive regulation of lamellipodium organization (GO:1902745)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|ruffle organization (GO:0031529)|urate metabolic process (GO:0046415)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|lamellipodium (GO:0030027)|nucleus (GO:0005634)	protein complex binding (GO:0032403)	p.N483N(2)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AAATACACAACATCACCAGCT	0.353																																																	2	Substitution - coding silent(2)	kidney(2)											95.0	81.0	85.0					6																	25509937		1879	4112	5991	SO:0001819	synonymous_variant	55604			AK000055	CCDS54973.1	6p22.1	2010-09-10	2008-02-12	2008-02-12	ENSG00000079691	ENSG00000079691			21581	protein-coding gene	gene with protein product	"""capping protein, Arp2/3, and Myosin-I Linker homolog 1 (Dictyostelium)"""	609593	"""leucine rich repeat containing 16"""	LRRC16		19846667	Standard	NM_017640		Approved	dJ501N12.1, FLJ20048, CARMIL, CARMIL1	uc011djw.2	Q5VZK9	OTTHUMG00000014393	ENST00000329474.6:c.1449C>T	6.37:g.25509937C>T		Somatic		WXS	Illumina GAIIx	Phase_I	B8X1J0|Q6ZUH5|Q6ZW07|Q9NXU7	Silent	SNP	ENST00000329474.6	37	CCDS54973.1																																																																																				0.353	LRRC16A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000040045.2		NM_017640	
MADD	8567	broad.mit.edu;hgsc.bcm.edu	37	11	47336865	47336865	+	Missense_Mutation	SNP	T	T	C			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr11:47336865T>C	ENST00000311027.5	+	30	4529	c.4364T>C	c.(4363-4365)aTc>aCc	p.I1455T	MADD_ENST00000405573.2_Missense_Mutation_p.I265T|MADD_ENST00000349238.3_Missense_Mutation_p.I1416T|MADD_ENST00000395344.3_Missense_Mutation_p.I1349T|MADD_ENST00000406482.1_Missense_Mutation_p.I1353T|MADD_ENST00000342922.4_Missense_Mutation_p.I1396T|MADD_ENST00000402799.1_Missense_Mutation_p.I1353T|MADD_ENST00000395336.3_Missense_Mutation_p.I1455T|MADD_ENST00000402192.2_Missense_Mutation_p.I1395T|MADD_ENST00000407859.3_Missense_Mutation_p.I1373T	NM_003682.3	NP_003673.3			MAP-kinase activating death domain									p.I1455T(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AACGGAGATATCTTTTTCATG	0.493																																																	1	Substitution - Missense(1)	kidney(1)											111.0	103.0	106.0					11																	47336865		2201	4298	6499	SO:0001583	missense	8567			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.4364T>C	11.37:g.47336865T>C	ENSP00000310933:p.Ile1455Thr	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000311027.5	37	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	T	25.4	4.631478	0.87660	.	.	ENSG00000110514	ENST00000342922;ENST00000395342;ENST00000402799;ENST00000406482;ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395344;ENST00000395336;ENST00000402192;ENST00000405573	T;T;T;T;T;T;T;T;T;T	0.50277	3.4;3.28;3.28;3.4;3.35;3.27;3.27;3.35;3.4;0.75	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.46328	0.1387	N	0.14661	0.345	0.80722	D	1	P;D;P;D;P;D;P;P;P;P;P	0.56287	0.913;0.957;0.927;0.957;0.956;0.975;0.948;0.923;0.956;0.928;0.923	P;P;P;P;P;P;P;P;P;P;P	0.55260	0.535;0.529;0.529;0.772;0.72;0.72;0.571;0.772;0.72;0.597;0.72	T	0.54146	-0.8337	10	0.72032	D	0.01	-19.7875	15.2338	0.73413	0.0:0.0:0.0:1.0	.	265;1349;1349;1455;1353;1353;1353;1416;1373;1455;1396	F8W8U2;B5MEE5;A8K8S7;Q8WXG6-7;F8W9P9;Q8WXG6-6;Q8WXG6-5;Q8WXG6-2;Q8WXG6-4;Q8WXG6;Q8WXG6-3	.;.;.;.;.;.;.;.;.;MADD_HUMAN;.	T	1396;1353;1353;1353;1416;1455;1373;1349;1455;1395;265	ENSP00000343902:I1396T;ENSP00000385585:I1353T;ENSP00000384435:I1353T;ENSP00000304505:I1416T;ENSP00000310933:I1455T;ENSP00000384204:I1373T;ENSP00000378753:I1349T;ENSP00000378745:I1455T;ENSP00000384287:I1395T;ENSP00000384483:I265T	ENSP00000310933:I1455T	I	+	2	0	MADD	47293441	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.646000	0.83445	1.985000	0.57927	0.460000	0.39030	ATC		0.493	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			
MBD6	114785	hgsc.bcm.edu;ucsc.edu	37	12	57919663	57919663	+	Frame_Shift_Del	DEL	G	G	-			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr12:57919663delG	ENST00000355673.3	+	6	1268	c.912delG	c.(910-912)ctgfs	p.L304fs	MBD6_ENST00000431731.2_Frame_Shift_Del_p.L304fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	304	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						TGGGGCCCCTGGGAGGGGCCC	0.692																																																	0													21.0	28.0	26.0					12																	57919663		2153	4264	6417	SO:0001589	frameshift_variant	114785			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.912delG	12.37:g.57919663delG	ENSP00000347896:p.Leu304fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N3M0|Q8NA81|Q96Q00	Frame_Shift_Del	DEL	ENST00000355673.3	37	CCDS8944.1																																																																																				0.692	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			
MBD6	114785	hgsc.bcm.edu	37	12	57919667	57919667	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr12:57919667G>A	ENST00000355673.3	+	6	1272	c.916G>A	c.(916-918)Ggg>Agg	p.G306R	MBD6_ENST00000431731.2_Missense_Mutation_p.G306R	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	306	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						GCCCCTGGGAGGGGCCCCCAC	0.692																																																	0													21.0	28.0	26.0					12																	57919667		2177	4279	6456	SO:0001583	missense	114785			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.916G>A	12.37:g.57919667G>A	ENSP00000347896:p.Gly306Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	g	10.92	1.487432	0.26686	.	.	ENSG00000166987	ENST00000355673;ENST00000431731	.	.	.	3.09	3.09	0.35607	.	1.017700	0.07891	U	0.971168	T	0.34716	0.0907	N	0.08118	0	0.29435	N	0.859564	D;D	0.71674	0.998;0.994	D;P	0.68943	0.961;0.81	T	0.29731	-1.0002	8	.	.	.	-3.081	6.2814	0.21009	0.1348:0.0:0.8652:0.0	.	306;306	Q6P0P0;Q96DN6	.;MBD6_HUMAN	R	306	.	.	G	+	1	0	MBD6	56205934	1.000000	0.71417	1.000000	0.80357	0.865000	0.49528	2.339000	0.43965	2.023000	0.59567	0.544000	0.68410	GGG		0.692	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			
MBD6	114785	broad.mit.edu;hgsc.bcm.edu	37	12	57919671	57919671	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr12:57919671C>T	ENST00000355673.3	+	6	1276	c.920C>T	c.(919-921)gCc>gTc	p.A307V	MBD6_ENST00000431731.2_Missense_Mutation_p.A307V	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	307	Pro-rich.					chromocenter (GO:0010369)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.A307V(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CTGGGAGGGGCCCCCACGGTG	0.682																																																	1	Substitution - Missense(1)	kidney(1)											21.0	28.0	26.0					12																	57919671		2185	4280	6465	SO:0001583	missense	114785			AB067474	CCDS8944.1	12q13.2	2008-02-05				ENSG00000166987			20445	protein-coding gene	gene with protein product						12529184	Standard	NM_052897		Approved	KIAA1887	uc001soj.1	Q96DN6		ENST00000355673.3:c.920C>T	12.37:g.57919671C>T	ENSP00000347896:p.Ala307Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N3M0|Q8NA81|Q96Q00	Missense_Mutation	SNP	ENST00000355673.3	37	CCDS8944.1	.	.	.	.	.	.	.	.	.	.	c	12.11	1.840498	0.32513	.	.	ENSG00000166987	ENST00000355673;ENST00000431731	.	.	.	3.5	0.492	0.16872	.	1.182250	0.06450	N	0.727480	T	0.18341	0.0440	N	0.08118	0	0.23192	N	0.998149	B;B	0.19445	0.028;0.036	B;B	0.28139	0.086;0.039	T	0.32851	-0.9891	8	.	.	.	-0.0016	3.6367	0.08151	0.1679:0.5709:0.1632:0.098	.	307;307	Q6P0P0;Q96DN6	.;MBD6_HUMAN	V	307	.	.	A	+	2	0	MBD6	56205938	0.452000	0.25713	0.987000	0.45799	0.877000	0.50540	0.272000	0.18644	0.089000	0.17243	-0.256000	0.11100	GCC		0.682	MBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407250.1			
MDN1	23195	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	90513110	90513110	+	Missense_Mutation	SNP	T	T	G			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr6:90513110T>G	ENST00000369393.3	-	2	381	c.266A>C	c.(265-267)gAt>gCt	p.D89A	MDN1_ENST00000428876.1_Missense_Mutation_p.D89A			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	89					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)	p.D89A(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TTCATGCAGATCATGGTTGAT	0.478																																																	1	Substitution - Missense(1)	kidney(1)											274.0	238.0	250.0					6																	90513110		2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.266A>C	6.37:g.90513110T>G	ENSP00000358400:p.Asp89Ala	Somatic		WXS	Illumina HiSeq	Phase_I	O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	T	16.64	3.178768	0.57692	.	.	ENSG00000112159	ENST00000369393;ENST00000428876;ENST00000439638	T;T;T	0.31769	1.48;1.48;1.48	4.77	4.77	0.60923	.	0.000000	0.85682	D	0.000000	T	0.39384	0.1076	M	0.63428	1.95	0.54753	D	0.999982	D;P	0.89917	1.0;0.568	D;B	0.63703	0.917;0.281	T	0.19745	-1.0296	10	0.40728	T	0.16	.	14.589	0.68351	0.0:0.0:0.0:1.0	.	89;89	Q6ZVV6;Q9NU22	.;MDN1_HUMAN	A	89	ENSP00000358400:D89A;ENSP00000413970:D89A;ENSP00000409664:D89A	ENSP00000358400:D89A	D	-	2	0	MDN1	90569831	1.000000	0.71417	0.987000	0.45799	0.933000	0.57130	7.500000	0.81588	1.917000	0.55516	0.254000	0.18369	GAT		0.478	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			
MEX3A	92312	broad.mit.edu	37	1	156046832	156046832	+	Missense_Mutation	SNP	C	C	A			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr1:156046832C>A	ENST00000532414.2	-	2	1095	c.1096G>T	c.(1096-1098)Ggc>Tgc	p.G366C	MEX3A_ENST00000442784.1_5'Flank|AL355388.1_ENST00000410679.1_RNA	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	366						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.G366C(1)|p.G485C(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					AGGTACCCGCCGTAGCCAAAG	0.677																																																	2	Substitution - Missense(2)	kidney(2)											30.0	37.0	35.0					1																	156046832		1973	4132	6105	SO:0001583	missense	92312			AK024097	CCDS53377.1	1q22	2013-09-24	2013-08-21	2007-07-18	ENSG00000254726	ENSG00000254726		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	33482	protein-coding gene	gene with protein product		611007	"""ring finger and KH domain containing 4"", ""mex-3 homolog A (C. elegans)"""	RKHD4		17267406	Standard	NM_001093725		Approved		uc001fnd.4	A1L020	OTTHUMG00000017465	ENST00000532414.2:c.1096G>T	1.37:g.156046832C>A	ENSP00000432845:p.Gly366Cys	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000532414.2	37	CCDS53377.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655649	0.47467	.	.	ENSG00000254726	ENST00000532414	T	0.58652	0.32	5.14	0.465	0.16711	.	0.236650	0.34133	N	0.004232	T	0.44052	0.1275	N	0.22421	0.69	0.40366	D	0.979293	D	0.89917	1.0	D	0.65010	0.931	T	0.47849	-0.9085	10	0.59425	D	0.04	.	9.8665	0.41148	0.0:0.6877:0.0:0.3123	.	366	A1L020	MEX3A_HUMAN	C	366	ENSP00000432845:G366C	ENSP00000432845:G366C	G	-	1	0	MEX3A	154313456	0.848000	0.29623	0.984000	0.44739	0.994000	0.84299	0.104000	0.15313	-0.066000	0.12998	0.551000	0.68910	GGC		0.677	MEX3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046218.3		NM_001093725	
MPDZ	8777	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	13221425	13221427	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	TCC	TCC	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr9:13221425_13221427delTCC	ENST00000319217.7	-	7	1067_1069	c.820_822delGGA	c.(820-822)ggadel	p.G274del	MPDZ_ENST00000381022.2_In_Frame_Del_p.G274del|MPDZ_ENST00000381015.4_In_Frame_Del_p.G274del|MPDZ_ENST00000447879.1_In_Frame_Del_p.G274del|MPDZ_ENST00000546205.1_In_Frame_Del_p.G274del|MPDZ_ENST00000536827.1_In_Frame_Del_p.G274del|MPDZ_ENST00000541718.1_In_Frame_Del_p.G274del	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	274	PDZ 2. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CAGTTGCTTTTCCTCCTATGATG	0.374																																																	0																																										SO:0001651	inframe_deletion	8777			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.820_822delGGA	9.37:g.13221428_13221430delTCC	ENSP00000320006:p.Gly274del	Somatic		WXS	Illumina HiSeq	Phase_I	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	In_Frame_Del	DEL	ENST00000319217.7	37																																																																																					0.374	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2		NM_003829	
MRAS	22808	broad.mit.edu;ucsc.edu	37	3	138117372	138117372	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr3:138117372A>T	ENST00000289104.4	+	4	1056	c.409A>T	c.(409-411)Acc>Tcc	p.T137S	MRAS_ENST00000474559.1_Missense_Mutation_p.T137S|MRAS_ENST00000464896.1_Missense_Mutation_p.T61S|MRAS_ENST00000423968.2_Missense_Mutation_p.T137S	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN	muscle RAS oncogene homolog	137					actin cytoskeleton organization (GO:0030036)|multicellular organismal development (GO:0007275)|muscle organ development (GO:0007517)|Ras protein signal transduction (GO:0007265)	extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|GTPase activity (GO:0003924)	p.T137S(1)		kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						GAGGAAGATCACCAGGGAGCA	0.507																																																	1	Substitution - Missense(1)	kidney(1)											159.0	141.0	147.0					3																	138117372		2203	4300	6503	SO:0001583	missense	22808			AF022080	CCDS3100.1, CCDS58855.1	3q22.3	2014-05-09			ENSG00000158186	ENSG00000158186			7227	protein-coding gene	gene with protein product		608435				9400994, 10446149	Standard	NM_012219		Approved	M-RAs, R-RAS3, RRAS3	uc003esi.4	O14807	OTTHUMG00000159888	ENST00000289104.4:c.409A>T	3.37:g.138117372A>T	ENSP00000289104:p.Thr137Ser	Somatic		WXS	Illumina GAIIx	Phase_I	B4DIK0|Q86WX8	Missense_Mutation	SNP	ENST00000289104.4	37	CCDS3100.1	.	.	.	.	.	.	.	.	.	.	A	5.262	0.233712	0.09969	.	.	ENSG00000158186	ENST00000289104;ENST00000423968;ENST00000494949;ENST00000464896;ENST00000474559	T;T;T;T;T	0.75589	-0.95;-0.95;-0.95;-0.95;-0.95	4.71	4.71	0.59529	Small GTP-binding protein domain (1);	0.092891	0.85682	D	0.000000	T	0.41003	0.1140	N	0.01729	-0.75	0.40199	D	0.977499	B	0.02656	0.0	B	0.01281	0.0	T	0.45862	-0.9232	10	0.02654	T	1	.	7.78	0.29060	0.8137:0.0:0.0:0.1863	.	137	O14807	RASM_HUMAN	S	137;137;61;61;137	ENSP00000289104:T137S;ENSP00000389682:T137S;ENSP00000417685:T61S;ENSP00000419582:T61S;ENSP00000418356:T137S	ENSP00000289104:T137S	T	+	1	0	MRAS	139600062	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.831000	0.69330	1.745000	0.51790	0.459000	0.35465	ACC		0.507	MRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357990.1			
NAV3	89795	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	78400326	78400326	+	Silent	SNP	C	C	G			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr12:78400326C>G	ENST00000397909.2	+	8	1181	c.1008C>G	c.(1006-1008)tcC>tcG	p.S336S	NAV3_ENST00000266692.7_Silent_p.S336S|NAV3_ENST00000228327.6_Silent_p.S336S|NAV3_ENST00000536525.2_Silent_p.S336S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	336						membrane (GO:0016020)|nuclear envelope (GO:0005635)		p.S336S(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GCAGCAAGTCCATGAATGTCA	0.562										HNSCC(70;0.22)																																							1	Substitution - coding silent(1)	kidney(1)											61.0	63.0	63.0					12																	78400326		2101	4226	6327	SO:0001819	synonymous_variant	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.1008C>G	12.37:g.78400326C>G		Somatic		WXS	Illumina HiSeq	Phase_I	Q8NFW7|Q9Y2E7	Silent	SNP	ENST00000397909.2	37		.	.	.	.	.	.	.	.	.	.	C	8.473	0.858020	0.17178	.	.	ENSG00000067798	ENST00000550503	.	.	.	5.61	4.72	0.59763	.	.	.	.	.	T	0.70649	0.3248	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70081	-0.4970	4	.	.	.	-11.8103	14.7894	0.69827	0.0:0.9308:0.0:0.0692	.	.	.	.	D	160	.	.	H	+	1	0	NAV3	76924457	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.976000	0.40579	1.388000	0.46506	-0.224000	0.12420	CAT		0.562	NAV3-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000406812.1		NM_001024383	
NRXN2	9379	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	64434814	64434814	+	Missense_Mutation	SNP	A	A	C			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr11:64434814A>C	ENST00000377551.1	-	8	1917	c.1706T>G	c.(1705-1707)aTg>aGg	p.M569R	NRXN2_ENST00000377559.3_Missense_Mutation_p.M538R|NRXN2_ENST00000265459.6_Missense_Mutation_p.M569R|NRXN2_ENST00000409571.1_Missense_Mutation_p.M562R			Q9P2S2	NRX2A_HUMAN	neurexin 2	569	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|gephyrin clustering (GO:0097116)|neuroligin clustering (GO:0097118)|neuron cell-cell adhesion (GO:0007158)|neurotransmitter secretion (GO:0007269)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	integral component of membrane (GO:0016021)	calcium channel regulator activity (GO:0005246)|cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|neuroligin family protein binding (GO:0097109)	p.M569R(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						CCCAGATCCCATGTCCAGCAG	0.622																																																	1	Substitution - Missense(1)	kidney(1)											95.0	90.0	92.0					11																	64434814		2201	4297	6498	SO:0001583	missense	9379				CCDS8077.1, CCDS31597.1, CCDS8078.1	11q13	2008-07-18			ENSG00000110076	ENSG00000110076			8009	protein-coding gene	gene with protein product	"""neurexin II"""	600566				1621094	Standard	NM_015080		Approved		uc021qkw.1	P58401	OTTHUMG00000045214	ENST00000377551.1:c.1706T>G	11.37:g.64434814A>C	ENSP00000366774:p.Met569Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A7E2C1|Q9Y2D6	Missense_Mutation	SNP	ENST00000377551.1	37	CCDS8077.1	.	.	.	.	.	.	.	.	.	.	A	21.5	4.156648	0.78114	.	.	ENSG00000110076	ENST00000377551;ENST00000377559;ENST00000265459;ENST00000345863;ENST00000409571	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	4.63	4.63	0.57726	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.51477	U	0.000089	D	0.83977	0.5371	L	0.52905	1.665	0.54753	D	0.999981	D;D;P	0.89917	1.0;0.999;0.701	D;D;B	0.74674	0.984;0.981;0.359	D	0.85509	0.1196	10	0.87932	D	0	.	12.0197	0.53336	1.0:0.0:0.0:0.0	.	538;569;315	Q9P2S2-2;Q9P2S2;E7EV67	.;NRX2A_HUMAN;.	R	569;538;569;538;562	ENSP00000366774:M569R;ENSP00000366782:M538R;ENSP00000265459:M569R;ENSP00000386416:M562R	ENSP00000265459:M569R	M	-	2	0	NRXN2	64191390	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.131000	0.94446	1.936000	0.56123	0.379000	0.24179	ATG		0.622	NRXN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104967.3		NM_015080	
OR2AE1	81392	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99474477	99474477	+	Silent	SNP	A	A	G			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr7:99474477A>G	ENST00000316368.2	-	1	203	c.180T>C	c.(178-180)taT>taC	p.Y60Y		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	60						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Y60Y(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TGAGCAGGAAATACATTGGTG	0.478																																																	1	Substitution - coding silent(1)	kidney(1)											98.0	88.0	91.0					7																	99474477		2203	4300	6503	SO:0001819	synonymous_variant	81392			AC011904	CCDS34696.1	7q22.1	2014-02-19	2002-02-28		ENSG00000244623	ENSG00000244623		"""GPCR / Class A : Olfactory receptors"""	15087	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily AE, member 2"""	OR2AE2			Standard	NM_001005276		Approved		uc003usc.1	Q8NHA4	OTTHUMG00000156650	ENST00000316368.2:c.180T>C	7.37:g.99474477A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B2RPD2	Silent	SNP	ENST00000316368.2	37	CCDS34696.1																																																																																				0.478	OR2AE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345053.1			
OVCH1	341350	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	29629166	29629166	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr12:29629166C>T	ENST00000318184.5	-	13	1443	c.1444G>A	c.(1444-1446)Ggt>Agt	p.G482S	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	482	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.G482S(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TCAGAATCACCGTAAATCACA	0.398																																																	1	Substitution - Missense(1)	kidney(1)											193.0	184.0	187.0					12																	29629166		1894	4118	6012	SO:0001583	missense	341350			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.1444G>A	12.37:g.29629166C>T	ENSP00000326708:p.Gly482Ser	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000318184.5	37		.	.	.	.	.	.	.	.	.	.	C	1.675	-0.507876	0.04231	.	.	ENSG00000187950	ENST00000318184	T	0.16324	2.35	2.5	1.61	0.23674	CUB (5);	.	.	.	.	T	0.05731	0.0150	N	0.03238	-0.38	0.09310	N	1	B	0.31769	0.339	B	0.22152	0.038	T	0.37798	-0.9690	9	0.21014	T	0.42	.	6.457	0.21936	0.0:0.7384:0.0:0.2616	.	482	Q7RTY7	OVCH1_HUMAN	S	482	ENSP00000326708:G482S	ENSP00000326708:G482S	G	-	1	0	OVCH1	29520433	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	-0.415000	0.07106	0.625000	0.30304	0.585000	0.79938	GGT		0.398	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395997.2		NM_183378	
PIGM	93183	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	160001252	160001252	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr1:160001252A>T	ENST00000368090.2	-	1	531	c.278T>A	c.(277-279)cTc>cAc	p.L93H		NM_145167.2	NP_660150.1	Q9H3S5	PIGM_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class M	93					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	mannosyltransferase activity (GO:0000030)	p.L93H(1)		kidney(1)|large_intestine(4)|lung(9)|ovary(2)|skin(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTTCCAAAGAGCTCGCTGAG	0.617																																																	1	Substitution - Missense(1)	kidney(1)											54.0	48.0	50.0					1																	160001252		2203	4300	6503	SO:0001583	missense	93183			AB028127	CCDS1192.1	1q23.2	2013-02-26	2006-06-28		ENSG00000143315	ENSG00000143315		"""Dolichyl D-mannosyl phosphate dependent mannosyltransferases"", ""Phosphatidylinositol glycan anchor biosynthesis"""	18858	protein-coding gene	gene with protein product	"""GPI mannosyltransferase 1"", ""DPM:GlcN-(acyl-)PI mannosyltransferase"", ""dol-P-Man dependent GPI mannosyltransferase"""	610273	"""phosphatidylinositol glycan, class M"""			11226175	Standard	NM_145167		Approved	GPI-MT-I	uc001fuv.1	Q9H3S5	OTTHUMG00000024081	ENST00000368090.2:c.278T>A	1.37:g.160001252A>T	ENSP00000357069:p.Leu93His	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000368090.2	37	CCDS1192.1	.	.	.	.	.	.	.	.	.	.	A	20.6	4.014691	0.75161	.	.	ENSG00000143315	ENST00000368090	T	0.47177	0.85	5.51	4.38	0.52667	.	0.220709	0.38217	N	0.001775	T	0.15998	0.0385	L	0.28694	0.88	0.53005	D	0.999963	B	0.34241	0.444	B	0.29598	0.104	T	0.04825	-1.0924	9	.	.	.	-6.2979	9.6894	0.40118	0.9187:0.0:0.0813:0.0	.	93	Q9H3S5	PIGM_HUMAN	H	93	ENSP00000357069:L93H	.	L	-	2	0	PIGM	158267876	0.993000	0.37304	0.458000	0.27068	0.994000	0.84299	2.945000	0.49043	1.103000	0.41568	0.459000	0.35465	CTC		0.617	PIGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060643.2		NM_145167	
QRICH1	54870	hgsc.bcm.edu	37	3	49094428	49094437	+	Frame_Shift_Del	DEL	ACAGCCTGCA	ACAGCCTGCA	-	rs576649534		TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	ACAGCCTGCA	ACAGCCTGCA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr3:49094428_49094437delACAGCCTGCA	ENST00000395443.2	-	3	1668_1677	c.1196_1205delTGCAGGCTGT	c.(1195-1206)gtgcaggctgtgfs	p.VQAV399fs	QRICH1_ENST00000424300.1_Frame_Shift_Del_p.VQAV399fs|QRICH1_ENST00000479449.1_5'UTR|QRICH1_ENST00000357496.2_Frame_Shift_Del_p.VQAV399fs	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	399	Gln-rich.					nucleus (GO:0005634)				breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CGTGCCTGCCACAGCCTGCACAGCCACTGG	0.529																																																	0																																										SO:0001589	frameshift_variant	54870				CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772	ENST00000395443.2:c.1196_1205delTGCAGGCTGT	3.37:g.49094428_49094437delACAGCCTGCA	ENSP00000378830:p.Val399fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q4G0F7|Q7L621|Q8TEA5	Frame_Shift_Del	DEL	ENST00000395443.2	37	CCDS2787.1																																																																																				0.529	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345669.1		NM_017730	
RAI1	10743	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	17696713	17696713	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr17:17696713G>A	ENST00000353383.1	+	3	920	c.451G>A	c.(451-453)Gtg>Atg	p.V151M	RAI1_ENST00000261641.6_Missense_Mutation_p.V151M	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	151					circadian regulation of gene expression (GO:0032922)|negative regulation of multicellular organism growth (GO:0040015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer binding (GO:0035326)|zinc ion binding (GO:0008270)	p.V151M(1)		breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AAAGACAGCAGTGCCCCCCAG	0.662																																																	1	Substitution - Missense(1)	kidney(1)											37.0	37.0	37.0					17																	17696713		2203	4300	6503	SO:0001583	missense	10743			AJ230819	CCDS11188.1	17p11.2	2011-02-08			ENSG00000108557	ENSG00000108557			9834	protein-coding gene	gene with protein product		607642	"""Smith-Magenis syndrome chromosome region"""	SMCR		10036180	Standard	NM_030665		Approved	DKFZP434A139, SMS, KIAA1820, MGC12824	uc002grm.3	Q7Z5J4	OTTHUMG00000059314	ENST00000353383.1:c.451G>A	17.37:g.17696713G>A	ENSP00000323074:p.Val151Met	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N3B4|Q8ND08|Q8WU64|Q96JK5|Q9H1C1|Q9H1C2|Q9UF69	Missense_Mutation	SNP	ENST00000353383.1	37	CCDS11188.1	.	.	.	.	.	.	.	.	.	.	G	14.60	2.584727	0.46110	.	.	ENSG00000108557	ENST00000353383;ENST00000395774;ENST00000395776;ENST00000355970;ENST00000261641;ENST00000315321	T;T;T	0.67865	-0.29;2.43;0.31	4.55	4.55	0.56014	.	0.262014	0.26939	N	0.021730	T	0.74650	0.3744	L	0.54323	1.7	0.36249	D	0.853781	D	0.65815	0.995	P	0.60886	0.88	T	0.78685	-0.2108	10	0.35671	T	0.21	.	15.0886	0.72174	0.0:0.0:1.0:0.0	.	151	Q7Z5J4	RAI1_HUMAN	M	151	ENSP00000323074:V151M;ENSP00000379120:V151M;ENSP00000261641:V151M	ENSP00000261641:V151M	V	+	1	0	RAI1	17637438	0.978000	0.34361	0.645000	0.29479	0.348000	0.29142	5.277000	0.65586	2.074000	0.62210	0.462000	0.41574	GTG		0.662	RAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131775.1		NM_030665	
SLC23A2	9962	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	4880292	4880292	+	Missense_Mutation	SNP	C	C	T			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr20:4880292C>T	ENST00000379333.1	-	6	783	c.391G>A	c.(391-393)Ggg>Agg	p.G131R	SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Missense_Mutation_p.G131R|SLC23A2_ENST00000338244.1_Missense_Mutation_p.G131R	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	131					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)	p.G131R(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TGGTCGTACCCCACACACATG	0.542																																																	1	Substitution - Missense(1)	kidney(1)											172.0	150.0	157.0					20																	4880292		2203	4300	6503	SO:0001583	missense	9962			AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.391G>A	20.37:g.4880292C>T	ENSP00000368637:p.Gly131Arg	Somatic		WXS	Illumina HiSeq	Phase_I	B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Missense_Mutation	SNP	ENST00000379333.1	37	CCDS13085.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.9|28.9	4.959702|4.959702	0.92791|0.92791	.|.	.|.	ENSG00000089057|ENSG00000089057	ENST00000423430|ENST00000379333;ENST00000338244;ENST00000424750	.|T;T;T	.|0.20738	.|2.05;2.05;2.05	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.51890|0.51890	0.1701|0.1701	M|M	0.84846|0.84846	2.72|2.72	0.43390|0.43390	D|D	0.995504|0.995504	.|D;D;D	.|0.89917	.|0.997;1.0;1.0	.|D;D;D	.|0.97110	.|0.992;1.0;1.0	T|T	0.57027|0.57027	-0.7881|-0.7881	6|10	.|0.49607	.|T	.|0.09	-14.2114|-14.2114	17.107|17.107	0.86666|0.86666	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|131;131;131	.|B4DJZ1;A0MSJ5;Q9UGH3	.|.;.;S23A2_HUMAN	E|R	1|131	.|ENSP00000368637:G131R;ENSP00000344322:G131R;ENSP00000406601:G131R	.|ENSP00000344322:G131R	G|G	-|-	2|1	0|0	SLC23A2|SLC23A2	4828292|4828292	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.969000|0.969000	0.65631|0.65631	7.805000|7.805000	0.86005|0.86005	2.347000|2.347000	0.79759|0.79759	0.462000|0.462000	0.41574|0.41574	GGG|GGG		0.542	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077832.1			
SSFA2	6744	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	182774683	182774683	+	Missense_Mutation	SNP	A	A	G			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr2:182774683A>G	ENST00000431877.2	+	9	1650	c.1471A>G	c.(1471-1473)Acg>Gcg	p.T491A	SSFA2_ENST00000320370.7_Missense_Mutation_p.T491A|SSFA2_ENST00000409001.1_Missense_Mutation_p.T491A|SSFA2_ENST00000409136.1_5'Flank|SSFA2_ENST00000428267.2_Missense_Mutation_p.T338A	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	491						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.T491A(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GCTAGGTCTTACGAAGTCGAA	0.383																																																	1	Substitution - Missense(1)	kidney(1)											66.0	57.0	60.0					2																	182774683		2203	4300	6503	SO:0001583	missense	6744			M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.1471A>G	2.37:g.182774683A>G	ENSP00000388731:p.Thr491Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	ENST00000431877.2	37	CCDS46467.1	.	.	.	.	.	.	.	.	.	.	A	4.869	0.161452	0.09287	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267	T;T;T;T	0.14391	2.74;2.51;2.74;2.75	5.98	2.4	0.29515	.	0.563870	0.19375	N	0.115818	T	0.09291	0.0229	L	0.33485	1.01	0.20489	N	0.999893	B;B;B;B	0.06786	0.001;0.001;0.001;0.001	B;B;B;B	0.06405	0.002;0.001;0.001;0.002	T	0.32981	-0.9886	10	0.23891	T	0.37	0.0	7.441	0.27183	0.7415:0.0:0.2585:0.0	.	338;491;491;491	E7END2;E9PHV5;P28290;P28290-3	.;.;SSFA2_HUMAN;.	A	491;491;491;338	ENSP00000388731:T491A;ENSP00000314669:T491A;ENSP00000387319:T491A;ENSP00000409867:T338A	ENSP00000314669:T491A	T	+	1	0	SSFA2	182482928	0.009000	0.17119	0.032000	0.17829	0.269000	0.26545	1.379000	0.34340	0.518000	0.28383	0.482000	0.46254	ACG		0.383	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255793.2		NM_006751	
SURF4	6836	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	136233529	136233529	+	Silent	SNP	G	G	A			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr9:136233529G>A	ENST00000371989.3	-	3	387	c.258C>T	c.(256-258)agC>agT	p.S86S	SURF4_ENST00000371991.3_Silent_p.S86S|SURF4_ENST00000485435.2_Silent_p.S86S|SURF4_ENST00000467910.1_Intron|SURF4_ENST00000545297.1_Silent_p.S86S	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	86					Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)		p.S86S(1)		kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		CGAAGTTCCTGCTCAACACCA	0.612																																																	1	Substitution - coding silent(1)	kidney(1)											63.0	54.0	57.0					9																	136233529		2203	4300	6503	SO:0001819	synonymous_variant	6836				CCDS6968.1, CCDS65177.1, CCDS65178.1, CCDS75929.1	9q33-q34	2008-07-21			ENSG00000148248	ENSG00000148248			11476	protein-coding gene	gene with protein product	"""surfeit locus protein 4"", ""surface 4 integral membrane protein"""	185660				8499913, 7540914	Standard	NM_033161		Approved	ERV29, FLJ22993, MGC102753	uc004cdj.3	O15260	OTTHUMG00000020868	ENST00000371989.3:c.258C>T	9.37:g.136233529G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B7Z6A4|O60923|Q5T8U6|Q9UNZ0|Q9UNZ1	Silent	SNP	ENST00000371989.3	37	CCDS6968.1																																																																																				0.612	SURF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054886.1		NM_033161	
TBX6	6911	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	30099894	30099894	+	Missense_Mutation	SNP	A	A	T			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr16:30099894A>T	ENST00000395224.2	-	6	870	c.811T>A	c.(811-813)Ttc>Atc	p.F271I	TBX6_ENST00000279386.2_Missense_Mutation_p.F271I|TBX6_ENST00000553607.1_Missense_Mutation_p.F271I	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	271					anatomical structure morphogenesis (GO:0009653)|cell fate specification (GO:0001708)|mesoderm development (GO:0007498)|mesoderm formation (GO:0001707)|negative regulation of neuron maturation (GO:0014043)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.F271I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						TTCTCCCGGAAGCCTTTGGCA	0.512																																																	1	Substitution - Missense(1)	kidney(1)											128.0	124.0	125.0					16																	30099894		2197	4300	6497	SO:0001583	missense	6911			AJ007989	CCDS10670.1	16p11.2	2008-02-05			ENSG00000149922	ENSG00000149922		"""T-boxes"""	11605	protein-coding gene	gene with protein product		602427				9888994, 9933572	Standard	NM_004608		Approved		uc010veh.2	O95947	OTTHUMG00000132115	ENST00000395224.2:c.811T>A	16.37:g.30099894A>T	ENSP00000378650:p.Phe271Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q8TAS4|Q9HA44	Missense_Mutation	SNP	ENST00000395224.2	37	CCDS10670.1	.	.	.	.	.	.	.	.	.	.	A	31	5.061297	0.93846	.	.	ENSG00000149922	ENST00000395224;ENST00000279386;ENST00000553607	D;D;D	0.91180	-2.8;-2.8;-2.8	5.95	5.95	0.96441	p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.96272	0.8784	M	0.91038	3.17	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	D	0.97027	0.9747	10	0.87932	D	0	.	15.3926	0.74758	1.0:0.0:0.0:0.0	.	271;271	O95947;Q9HA44	TBX6_HUMAN;.	I	271	ENSP00000378650:F271I;ENSP00000279386:F271I;ENSP00000461223:F271I	ENSP00000279386:F271I	F	-	1	0	TBX6	30007395	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.229000	0.95273	2.280000	0.76307	0.460000	0.39030	TTC		0.512	TBX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255157.2		NM_004608, NM_080758	
TDP2	51567	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	24658870	24658870	+	Missense_Mutation	SNP	G	G	A			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr6:24658870G>A	ENST00000378198.4	-	3	514	c.344C>T	c.(343-345)tCt>tTt	p.S115F	TDP2_ENST00000545995.1_Missense_Mutation_p.S145F|TDP2_ENST00000341060.3_Missense_Mutation_p.S57F|TDP2_ENST00000478285.1_5'UTR			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	115					cell surface receptor signaling pathway (GO:0007166)|double-strand break repair (GO:0006302)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|PML body (GO:0016605)	5'-tyrosyl-DNA phosphodiesterase activity (GO:0070260)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)|tyrosyl-RNA phosphodiesterase activity (GO:0036317)	p.S115F(1)		kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						GGTAATGAGAGAGAACATGCT	0.408								Direct reversal of damage																																									1	Substitution - Missense(1)	kidney(1)											187.0	167.0	174.0					6																	24658870		2203	4300	6503	SO:0001583	missense	51567			AJ269473	CCDS4557.1	6p22.3-p22.1	2010-05-07	2010-05-07	2010-05-07	ENSG00000111802	ENSG00000111802	3.1.4.-		17768	protein-coding gene	gene with protein product		605764	"""TRAF and TNF receptor associated protein"""	TTRAP		11478795	Standard	NM_016614		Approved		uc003nej.3	O95551	OTTHUMG00000014360	ENST00000378198.4:c.344C>T	6.37:g.24658870G>A	ENSP00000367440:p.Ser115Phe	Somatic		WXS	Illumina HiSeq	Phase_I	B4DKL8|B4DQ95|Q2TBE2|Q5JYM0|Q7Z6U5|Q9NUK5|Q9NYY9	Missense_Mutation	SNP	ENST00000378198.4	37	CCDS4557.1	.	.	.	.	.	.	.	.	.	.	G	12.57	1.978576	0.34942	.	.	ENSG00000111802	ENST00000378198;ENST00000545995;ENST00000341060	T;T;T	0.24350	1.86;1.86;1.86	5.55	3.67	0.42095	Endonuclease/exonuclease/phosphatase (2);	0.054417	0.85682	D	0.000000	T	0.41282	0.1152	M	0.71581	2.175	0.48236	D	0.999612	D;D	0.69078	0.997;0.99	D;P	0.71414	0.973;0.894	T	0.52041	-0.8628	10	0.72032	D	0.01	-4.1921	18.2517	0.90006	0.0:0.2264:0.7736:0.0	.	145;115	O95551-2;O95551	.;TYDP2_HUMAN	F	115;145;57	ENSP00000367440:S115F;ENSP00000437637:S145F;ENSP00000345345:S57F	ENSP00000345345:S57F	S	-	2	0	TDP2	24766849	1.000000	0.71417	0.678000	0.29963	0.010000	0.07245	4.579000	0.60936	0.714000	0.32081	-1.255000	0.01485	TCT		0.408	TDP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000040012.1			
TNKS	8658	broad.mit.edu;hgsc.bcm.edu	37	8	9413533	9413533	+	Silent	SNP	G	G	T			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr8:9413533G>T	ENST00000310430.6	+	1	110	c.84G>T	c.(82-84)ccG>ccT	p.P28P	TNKS_ENST00000520408.1_Silent_p.P28P|RP11-375N15.2_ENST00000607598.1_RNA|TNKS_ENST00000522110.1_Silent_p.P28P	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	28	Poly-Pro.				mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)	p.P28P(2)		NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		CAGCGCCGCCGCCGCCACCTC	0.731																																																	2	Substitution - coding silent(2)	kidney(2)											15.0	18.0	17.0					8																	9413533		2145	4220	6365	SO:0001819	synonymous_variant	8658			AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.84G>T	8.37:g.9413533G>T		Somatic		WXS	Illumina HiSeq	Phase_I	O95272|Q4G0F2	Silent	SNP	ENST00000310430.6	37	CCDS5974.1																																																																																				0.731	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206935.1		NM_003747	
TRIM41	90933	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	180651530	180651530	+	Silent	SNP	T	T	A			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr5:180651530T>A	ENST00000315073.5	+	1	1241	c.531T>A	c.(529-531)ccT>ccA	p.P177P	TRIM41_ENST00000351937.5_Silent_p.P177P|CTC-338M12.7_ENST00000499096.2_RNA|MIR4638_ENST00000581158.1_RNA	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	177					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.P177P(2)		NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCCAGCCCCTCGGAGGTGCT	0.632																																																	2	Substitution - coding silent(2)	kidney(2)											34.0	39.0	38.0					5																	180651530		2203	4300	6503	SO:0001819	synonymous_variant	90933			AF258579	CCDS4465.1, CCDS4466.1	5q35.3	2013-01-09	2011-01-25		ENSG00000146063	ENSG00000146063		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	19013	protein-coding gene	gene with protein product	"""RING-finger protein that interacts with C kinase"""	610530	"""tripartite motif-containing 41"""			16022281	Standard	NM_033549		Approved	MGC1127, RINCK	uc003mne.2	Q8WV44	OTTHUMG00000130965	ENST00000315073.5:c.531T>A	5.37:g.180651530T>A		Somatic		WXS	Illumina HiSeq	Phase_I	B3KNJ6|D3DWR9|Q5BKT0|Q7L484|Q96Q10|Q9BSL8	Silent	SNP	ENST00000315073.5	37	CCDS4466.1																																																																																				0.632	TRIM41-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253574.3		NM_201627	
TTC39B	158219	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	15211317	15211317	+	Silent	SNP	C	C	T			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr9:15211317C>T	ENST00000512701.2	-	5	597	c.561G>A	c.(559-561)caG>caA	p.Q187Q	TTC39B_ENST00000582994.1_5'Flank|TTC39B_ENST00000297615.5_Silent_p.Q118Q|TTC39B_ENST00000507285.1_Silent_p.Q22Q|TTC39B_ENST00000507993.1_Silent_p.Q22Q|TTC39B_ENST00000380850.4_Silent_p.Q187Q|TTC39B_ENST00000355694.2_Silent_p.Q121Q|TTC39B_ENST00000541445.1_Silent_p.Q121Q			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	187								p.Q187Q(1)|p.Q121Q(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						TCTGGATGTCCTGTTGCTCGA	0.463																																																	2	Substitution - coding silent(2)	kidney(2)											159.0	139.0	146.0					9																	15211317		2203	4300	6503	SO:0001819	synonymous_variant	158219			AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"""Tetratricopeptide (TTC) repeat domain containing"""	23704	protein-coding gene	gene with protein product		613574	"""chromosome 9 open reading frame 52"""	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.561G>A	9.37:g.15211317C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Silent	SNP	ENST00000512701.2	37	CCDS6477.2																																																																																				0.463	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051758.3		NM_152574	
TTN	7273	hgsc.bcm.edu;ucsc.edu	37	2	179642494	179642494	+	Frame_Shift_Del	DEL	T	T	-			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr2:179642494delT	ENST00000591111.1	-	25	4641	c.4417delA	c.(4417-4419)actfs	p.T1473fs	TTN_ENST00000360870.5_Frame_Shift_Del_p.T1473fs|TTN_ENST00000342175.6_Frame_Shift_Del_p.T1427fs|TTN_ENST00000359218.5_Frame_Shift_Del_p.T1427fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.T1427fs|TTN_ENST00000342992.6_Frame_Shift_Del_p.T1473fs|TTN_ENST00000589042.1_Frame_Shift_Del_p.T1473fs|RP11-88L24.4_ENST00000582038.2_RNA			Q8WZ42	TITIN_HUMAN	titin	12340	Ig-like 6.			QTA -> ANC (in Ref. 1; CAA62188). {ECO:0000305}.	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)			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)			AATCTGGCAGTTTGCCCTTCT	0.393																																																	0													88.0	85.0	86.0					2																	179642494		2203	4300	6503	SO:0001589	frameshift_variant	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.4417delA	2.37:g.179642494delT	ENSP00000465570:p.Thr1473fs	Somatic		WXS	Illumina HiSeq	Phase_I	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	Frame_Shift_Del	DEL	ENST00000591111.1	37																																																																																					0.393	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
UBQLNL	143630	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	5537653	5537653	+	Nonsense_Mutation	SNP	G	G	A			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr11:5537653G>A	ENST00000380184.1	-	1	282	c.19C>T	c.(19-21)Cga>Tga	p.R7*	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	7								p.R7*(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		CTGGATGTTCGAGAGATGGCA	0.537																																																	1	Substitution - Nonsense(1)	kidney(1)											59.0	59.0	59.0					11																	5537653		2201	4296	6497	SO:0001587	stop_gained	143630			AK127987	CCDS31385.1	11p15.4	2014-02-12			ENSG00000175518	ENSG00000175518		"""Ubiquilin family"""	28294	protein-coding gene	gene with protein product							Standard	NM_145053		Approved	MGC20470, MGC26958	uc001maz.4	Q8IYU4	OTTHUMG00000066903	ENST00000380184.1:c.19C>T	11.37:g.5537653G>A	ENSP00000369531:p.Arg7*	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZRU1|Q96EK3|Q96MB0	Nonsense_Mutation	SNP	ENST00000380184.1	37	CCDS31385.1	.	.	.	.	.	.	.	.	.	.	g	15.64	2.892655	0.52121	.	.	ENSG00000175518	ENST00000380184;ENST00000538889	.	.	.	4.84	-0.921	0.10472	.	0.445756	0.16839	N	0.197419	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-16.0453	3.2463	0.06798	0.2711:0.0:0.3985:0.3304	.	.	.	.	X	7	.	ENSP00000369531:R7X	R	-	1	2	UBQLNL	5494229	0.008000	0.16893	0.041000	0.18516	0.003000	0.03518	0.367000	0.20382	0.006000	0.14734	-1.658000	0.00752	CGA		0.537	UBQLNL-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143386.1		NM_145053	
USP43	124739	broad.mit.edu;ucsc.edu	37	17	9559806	9559806	+	Silent	SNP	A	A	G			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr17:9559806A>G	ENST00000285199.7	+	2	687	c.591A>G	c.(589-591)gtA>gtG	p.V197V	USP43_ENST00000570475.1_Silent_p.V197V|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	197	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)	p.V198V(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						TGGATCGTGTACATGAGGACC	0.483																																																	1	Substitution - coding silent(1)	kidney(1)											72.0	70.0	71.0					17																	9559806		1866	4112	5978	SO:0001819	synonymous_variant	124739			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.591A>G	17.37:g.9559806A>G		Somatic		WXS	Illumina GAIIx	Phase_I	A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Silent	SNP	ENST00000285199.7	37	CCDS45610.1																																																																																				0.483	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439855.3		NM_153210	
VHL	7428	broad.mit.edu	37	3	10183725	10183725	+	Missense_Mutation	SNP	C	C	G	rs5030826		TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr3:10183725C>G	ENST00000256474.2	+	1	1034	c.194C>G	c.(193-195)tCg>tGg	p.S65W	VHL_ENST00000345392.2_Missense_Mutation_p.S65W|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	65			S -> A (in pheochromocytoma). {ECO:0000269|PubMed:12000816}.|S -> L (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829912}.|S -> W (in VHLD; type I). {ECO:0000269|PubMed:8956040, ECO:0000269|PubMed:9829911}.		cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.S65L(11)|p.S65*(10)|p.S65W(4)|p.E52_S65del(2)|p.S65_N67del(2)|p.R64fs*63(2)|p.A56_R69>G(1)|p.R60fs*35(1)|p.S65>Q(1)|p.S65fs*92(1)|p.P61fs*61(1)|p.V62fs*1(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GTGCTGCGCTCGGTGAACTCG	0.721		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	37	Substitution - Missense(15)|Substitution - Nonsense(10)|Deletion - Frameshift(6)|Deletion - In frame(4)|Complex - deletion inframe(1)|Complex - compound substitution(1)	kidney(37)	GRCh37	CM941362|CM941363|CM941364	VHL	M	rs5030826						7.0	11.0	9.0					3																	10183725		2133	4211	6344	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.194C>G	3.37:g.10183725C>G	ENSP00000256474:p.Ser65Trp	Somatic		WXS	Illumina GAIIx	Phase_I	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.689929	0.68271	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99834	-7.04;-7.04	5.54	4.67	0.58626	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.055860	0.85682	D	0.000000	D	0.99775	0.9907	M	0.83774	2.66	0.49130	D	0.999759	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.97143	0.9826	10	0.87932	D	0	-10.717	12.339	0.55083	0.0:0.9181:0.0:0.0819	.	65;65	P40337-2;P40337	.;VHL_HUMAN	W	65	ENSP00000256474:S65W;ENSP00000344757:S65W	ENSP00000256474:S65W	S	+	2	0	VHL	10158725	0.998000	0.40836	0.982000	0.44146	0.307000	0.27823	4.868000	0.63021	1.351000	0.45789	0.550000	0.68814	TCG		0.721	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
ZKSCAN1	7586	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	99631276	99631276	+	Missense_Mutation	SNP	G	G	C			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr7:99631276G>C	ENST00000324306.6	+	6	1382	c.1148G>C	c.(1147-1149)gGt>gCt	p.G383A	ZKSCAN1_ENST00000426572.1_Missense_Mutation_p.G347A|ZKSCAN1_ENST00000535170.1_Missense_Mutation_p.G170A	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	383					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.G383A(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GATGAATGTGGTAAATGCTTC	0.458																																																	1	Substitution - Missense(1)	kidney(1)											81.0	81.0	81.0					7																	99631276		2203	4300	6503	SO:0001583	missense	7586			X52349	CCDS34698.1, CCDS69349.1, CCDS75640.1	7q22	2013-01-09	2004-11-16	2004-11-17	ENSG00000106261	ENSG00000106261		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	13101	protein-coding gene	gene with protein product		601260	"""zinc finger protein 36 (KOX 18)"""	ZNF139, ZNF36			Standard	NM_001287055		Approved	KOX18, PHZ-37, ZSCAN33	uc003usk.1	P17029	OTTHUMG00000156534	ENST00000324306.6:c.1148G>C	7.37:g.99631276G>C	ENSP00000323148:p.Gly383Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A4D294|P52745|Q2M1U1|Q8TBW5|Q8TEK7	Missense_Mutation	SNP	ENST00000324306.6	37	CCDS34698.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.958879	0.74016	.	.	ENSG00000106261	ENST00000324306;ENST00000426572;ENST00000535170	T;T;T	0.07021	3.23;3.23;3.23	5.18	5.18	0.71444	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000013	T	0.28466	0.0704	M	0.80982	2.52	0.44798	D	0.997804	D	0.76494	0.999	P	0.60473	0.875	T	0.00708	-1.1600	10	0.62326	D	0.03	.	16.6022	0.84819	0.0:0.0:1.0:0.0	.	383	P17029	ZKSC1_HUMAN	A	383;347;170	ENSP00000323148:G383A;ENSP00000409172:G347A;ENSP00000443508:G170A	ENSP00000323148:G383A	G	+	2	0	ZKSCAN1	99469212	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.114000	0.50383	2.868000	0.98415	0.557000	0.71058	GGT		0.458	ZKSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344550.2		NM_003439	
ZNF518A	9849	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	97920188	97920188	+	RNA	SNP	T	T	C			TCGA-B0-5077-01A-01D-1462-08	TCGA-B0-5077-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	587f2bd8-952a-4f31-98e7-7654c80b8a99	7ca07cb9-f606-4911-ad93-3a3dd65a84d2	g.chr10:97920188T>C	ENST00000534948.1	+	0	4964							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TTGCTAAATTTAATGGACATG	0.328																																																	0													104.0	102.0	103.0					10																	97920188		1831	4082	5913			9849			AB002333	CCDS73170.1	10q23.33	2012-08-08	2007-12-07	2007-12-07	ENSG00000177853	ENSG00000177853		"""Zinc fingers, C2H2-type"""	29009	protein-coding gene	gene with protein product			"""zinc finger protein 518"""	ZNF518		9205841	Standard	NM_014803		Approved	KIAA0335	uc001klp.3	Q6AHZ1	OTTHUMG00000018828		10.37:g.97920188T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A0PJI5|O15044|Q32MP4	Missense_Mutation	SNP	ENST00000534948.1	37																																																																																					0.328	ZNF518A-202	KNOWN	basic	processed_transcript	processed_transcript			NM_014803	
