#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
AHDC1	27245	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	27874262	27874262	+	Silent	SNP	G	G	A			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr1:27874262G>A	ENST00000247087.5	-	5	4961	c.4365C>T	c.(4363-4365)caC>caT	p.H1455H	AHDC1_ENST00000374011.2_Silent_p.H1455H			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1455							DNA binding (GO:0003677)	p.H1455H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GGGAATCGTAGTGGGGCTGGC	0.697																																																	1	Substitution - coding silent(1)	kidney(1)											11.0	12.0	11.0					1																	27874262		2186	4288	6474	SO:0001819	synonymous_variant	27245			AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.4365C>T	1.37:g.27874262G>A			Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Silent	SNP	ENST00000247087.5	37	CCDS30652.1																																																																																				0.697	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			
ASAH1	427	hgsc.bcm.edu	37	8	17942197	17942203	+	5'Flank	DEL	AGCAAAG	AGCAAAG	-	rs548868946	byFrequency	TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	AGCAAAG	AGCAAAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr8:17942197_17942203delAGCAAAG	ENST00000262097.6	-	0	0				CTD-2547L16.1_ENST00000521775.1_RNA|CTD-2547L16.1_ENST00000499554.2_RNA|ASAH1_ENST00000520051.1_5'UTR|CTD-2547L16.1_ENST00000517798.1_RNA|CTD-2547L16.1_ENST00000517747.1_RNA|ASAH1_ENST00000417108.2_5'Flank|CTD-2547L16.1_ENST00000505114.2_RNA|ASAH1_ENST00000314146.10_Frame_Shift_Del_p.SFA36fs|ASAH1_ENST00000381733.4_Frame_Shift_Del_p.SFA36fs|ASAH1_ENST00000520781.1_5'Flank	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1						cell death (GO:0008219)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lung development (GO:0030324)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|ceramidase activity (GO:0017040)			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		GGGCTTTCACAGCAAAGCTGCCAAATC	0.594											OREG0018581	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		6	0.00119808	0.0038	0.0014	5008	,	,		17900	0.0		0.0	False		,,,				2504	0.0																0									,	16,4248		0,16,2116					,	1.1	0.0			49	0,8254		0,0,4127	no	frameshift,frameshift	ASAH1	NM_004315.4,NM_001127505.1	,	0,16,6243	A1A1,A1R,RR		0.0,0.3752,0.1278	,	,		16,12502				SO:0001631	upstream_gene_variant	427			U70063	CCDS6005.1, CCDS6006.1, CCDS47813.1	8p22	2007-03-27	2002-09-11	2002-09-13	ENSG00000104763	ENSG00000104763			735	protein-coding gene	gene with protein product		613468	"""N-acylsphingosine amidohydrolase (acid ceramidase)"""	ASAH		8955159, 10610716	Standard	NM_004315		Approved	AC, PHP32, FLJ21558	uc003wyn.2	Q13510	OTTHUMG00000096997		8.37:g.17942197_17942203delAGCAAAG	Exception_encountered	721	E9PDS0|Q6W898|Q96AS2	Frame_Shift_Del	DEL	ENST00000262097.6	37	CCDS6006.1																																																																																				0.594	ASAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214077.2		NM_004315	
ATF7IP	55729	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	14613557	14613557	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr12:14613557G>C	ENST00000540793.1	+	8	2442	c.2287G>C	c.(2287-2289)Gct>Cct	p.A763P	ATF7IP_ENST00000536444.1_Missense_Mutation_p.A762P|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000543189.1_Missense_Mutation_p.A762P|ATF7IP_ENST00000544627.1_Missense_Mutation_p.A771P|ATF7IP_ENST00000261168.4_Missense_Mutation_p.A763P			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	763	Interaction with SETDB1.				DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)		p.A763P(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						TACTGTAGTTGCTACTACTCA	0.488																																																	1	Substitution - Missense(1)	kidney(1)											135.0	132.0	133.0					12																	14613557		2203	4300	6503	SO:0001583	missense	55729			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.2287G>C	12.37:g.14613557G>C	ENSP00000444589:p.Ala763Pro		F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	ENST00000540793.1	37	CCDS8663.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.099392	0.76983	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000540793	T;T;T;T;T	0.22336	1.97;2.01;1.96;1.96;1.97	6.02	4.21	0.49690	.	0.369511	0.26334	N	0.024965	T	0.37376	0.1001	L	0.56769	1.78	0.40173	D	0.977208	D;D;D;D	0.61080	0.98;0.98;0.989;0.989	P;P;P;P	0.61201	0.837;0.837;0.885;0.885	T	0.08806	-1.0704	9	.	.	.	-8.0887	12.6202	0.56600	0.1328:0.0:0.8672:0.0	.	762;763;762;374	G3V1U0;Q6VMQ6;Q6VMQ6-2;B3KQF8	.;MCAF1_HUMAN;.;.	P	763;762;762;771;763	ENSP00000261168:A763P;ENSP00000443179:A762P;ENSP00000445955:A762P;ENSP00000440440:A771P;ENSP00000444589:A763P	.	A	+	1	0	ATF7IP	14504824	1.000000	0.71417	0.998000	0.56505	0.958000	0.62258	4.049000	0.57397	0.890000	0.36211	-0.145000	0.13849	GCT		0.488	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000401400.1		NM_018179	
BSND	7809	hgsc.bcm.edu;ucsc.edu	37	1	55464986	55464986	+	Missense_Mutation	SNP	G	G	A	rs34561376	byFrequency	TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr1:55464986G>A	ENST00000371265.4	+	1	381	c.127G>A	c.(127-129)Gtc>Atc	p.V43I		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	barttin CLCNK-type chloride channel accessory beta subunit	43			V -> I (in dbSNP:rs34561376).		ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride channel activity (GO:0005254)|chloride channel regulator activity (GO:0017081)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						CATGGGCAGCGTCATGGTGAT	0.632													G|||	409	0.0816693	0.1422	0.0144	5008	,	,		16970	0.1974		0.001	False		,,,				2504	0.0112				Ovarian(191;1657 2078 22894 42033 48899)												0			GRCh37	CM077510	BSND	M	rs34561376	G	ILE/VAL	543,3863	246.5+/-255.1	28,487,1688	89.0	78.0	82.0		127	-2.8	0.0	1	dbSNP_126	82	11,8589	8.4+/-32.0	0,11,4289	yes	missense	BSND	NM_057176.2	29	28,498,5977	AA,AG,GG		0.1279,12.3241,4.2596	benign	43/321	55464986	554,12452	2203	4300	6503	SO:0001583	missense	7809			AY034632	CCDS602.1	1p32.3	2014-06-17	2014-06-17		ENSG00000162399	ENSG00000162399			16512	protein-coding gene	gene with protein product		606412	"""deafness, autosomal recessive 73"", ""Bartter syndrome, infantile, with sensorineural deafness (Barttin)"""	DFNB73		11687798, 11734858, 19646679	Standard	NM_057176		Approved	BART	uc001cye.3	Q8WZ55	OTTHUMG00000008112	ENST00000371265.4:c.127G>A	1.37:g.55464986G>A	ENSP00000360312:p.Val43Ile		Q6NT28	Missense_Mutation	SNP	ENST00000371265.4	37	CCDS602.1	168	0.07692307692307693	52	0.10569105691056911	4	0.011049723756906077	111	0.19405594405594406	1	0.0013192612137203166	G	0.074	-1.197095	0.01594	0.123241	0.001279	ENSG00000162399	ENST00000371265	T	0.65549	-0.16	4.3	-2.78	0.05859	.	0.719733	0.11692	N	0.538781	T	0.00039	0.0001	N	0.11927	0.2	0.58432	P	1.0000000000287557E-6	B	0.09022	0.002	B	0.04013	0.001	T	0.11641	-1.0579	9	0.02654	T	1	-10.4804	7.9791	0.30172	0.3996:0.1599:0.4405:0.0	rs34561376	43	Q8WZ55	BSND_HUMAN	I	43	ENSP00000360312:V43I	ENSP00000360312:V43I	V	+	1	0	BSND	55237574	0.000000	0.05858	0.041000	0.18516	0.732000	0.41865	-0.294000	0.08309	-0.513000	0.06496	-1.303000	0.01326	GTC		0.632	BSND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022213.4		NM_057176	
BTBD2	55643	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	1993133	1993133	+	Silent	SNP	C	C	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr19:1993133C>T	ENST00000255608.4	-	3	586	c.570G>A	c.(568-570)gtG>gtA	p.V190V	AC005306.3_ENST00000587498.1_RNA|AC005306.3_ENST00000588480.1_RNA|BTBD2_ENST00000590646.1_5'UTR	NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	190						cytoplasmic mRNA processing body (GO:0000932)		p.V190V(1)		endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		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)		GCGTGGTCATCACCGTCTCCG	0.637																																																	1	Substitution - coding silent(1)	kidney(1)											84.0	60.0	68.0					19																	1993133		2203	4300	6503	SO:0001819	synonymous_variant	55643			AF355797	CCDS12078.1	19p13.3	2013-10-02			ENSG00000133243	ENSG00000133243		"""BTB/POZ domain containing"""	15504	protein-coding gene	gene with protein product		608531				11179693	Standard	XM_005259593		Approved		uc002lup.1	Q9BX70	OTTHUMG00000180017	ENST00000255608.4:c.570G>A	19.37:g.1993133C>T			O60418|O75248|Q4VBZ1|Q6IAC5|Q7Z5W0|Q96SX8|Q9NPS1|Q9NX81	Silent	SNP	ENST00000255608.4	37	CCDS12078.1																																																																																				0.637	BTBD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449300.2			
C17orf97	400566	broad.mit.edu	37	17	263315	263315	+	Silent	SNP	C	C	T	rs71356792		TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr17:263315C>T	ENST00000360127.6	+	2	697	c.681C>T	c.(679-681)ccC>ccT	p.P227P	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	227	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.							p.P227P(1)		breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						GCTTCCACCCCGACCCCGAGG	0.711																																																	1	Substitution - coding silent(1)	kidney(1)											5.0	11.0	9.0					17																	263315		1738	4066	5804	SO:0001819	synonymous_variant	400566			AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.681C>T	17.37:g.263315C>T			A5D8T6|Q6NSI2|Q6PFW9	Silent	SNP	ENST00000360127.6	37	CCDS32519.2																																																																																				0.711	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4		NM_001013672	
TMEM74B	55321	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	1162182	1162183	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr20:1162182_1162183insG	ENST00000381894.3	-	2	751_752	c.80_81insC	c.(79-81)tctfs	p.S27fs	TMEM74B_ENST00000481747.1_5'UTR	NM_018354.1	NP_060824.1	Q9NUR3	TM74B_HUMAN	transmembrane protein 74B	27						integral component of membrane (GO:0016021)											GACCAGGGGGAGATGCCATTGG	0.584																																																	0																																										SO:0001589	frameshift_variant	0			AK002052	CCDS13011.1	20p13	2011-11-23	2011-11-23	2011-11-23	ENSG00000125895	ENSG00000125895			15893	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 46"""	C20orf46			Standard	XM_005260748		Approved	FLJ11190	uc002weq.1	Q9NUR3	OTTHUMG00000031655	ENST00000381894.3:c.81dupC	20.37:g.1162183_1162183dupG	ENSP00000371318:p.Ser27fs		D3DVW5	Frame_Shift_Ins	INS	ENST00000381894.3	37	CCDS13011.1																																																																																				0.584	TMEM74B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077496.2		NM_018354	
C6orf89	221477	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	36882108	36882108	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr6:36882108C>A	ENST00000480824.2	+	5	746	c.452C>A	c.(451-453)cCc>cAc	p.P151H	C6orf89_ENST00000373685.1_Missense_Mutation_p.P151H|C6orf89_ENST00000355190.3_Missense_Mutation_p.P158H|C6orf89_ENST00000359359.2_Missense_Mutation_p.P45H|C6orf89_ENST00000510325.2_Missense_Mutation_p.P45H			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	151					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P158H(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						GAGTCAGAGCCCATTCCTGCC	0.517																																																	1	Substitution - Missense(1)	kidney(1)											69.0	71.0	71.0					6																	36882108		2203	4300	6503	SO:0001583	missense	221477			AK058086	CCDS4827.1, CCDS69100.1, CCDS75444.1	6p21.31	2013-03-14			ENSG00000198663	ENSG00000198663			21114	protein-coding gene	gene with protein product	"""bombesin receptor activated protein"""					21857995, 23460338	Standard	NM_152734		Approved	FLJ25357, BRAP	uc003omw.3	Q6UWU4	OTTHUMG00000014613	ENST00000480824.2:c.452C>A	6.37:g.36882108C>A	ENSP00000475947:p.Pro151His		B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	ENST00000480824.2	37		.	.	.	.	.	.	.	.	.	.	C	15.32	2.799336	0.50208	.	.	ENSG00000198663	ENST00000359359;ENST00000510325;ENST00000355190;ENST00000373685;ENST00000416621;ENST00000540072	.	.	.	5.44	2.64	0.31445	.	0.301023	0.24388	N	0.038951	T	0.15003	0.0362	L	0.50333	1.59	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.004	T	0.25641	-1.0126	9	0.56958	D	0.05	-0.2988	5.0043	0.14280	0.1662:0.658:0.0:0.1758	.	151;158	Q6UWU4;Q6UWU4-2	CF089_HUMAN;.	H	45;45;158;151;158;157	.	ENSP00000347322:P158H	P	+	2	0	C6orf89	36990086	0.091000	0.21658	0.131000	0.22000	0.587000	0.36485	0.444000	0.21661	0.250000	0.21479	0.655000	0.94253	CCC		0.517	C6orf89-004	KNOWN	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000040387.2		NM_152734	
CASP5	838	hgsc.bcm.edu	37	11	104879687	104879687	+	Frame_Shift_Del	DEL	T	T	-	rs372526393		TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr11:104879687delT	ENST00000260315.3	-	2	27	c.28delA	c.(28-30)aggfs	p.R11fs	CASP5_ENST00000444749.2_Intron|CASP5_ENST00000393139.2_5'UTR|CASP5_ENST00000393141.2_Frame_Shift_Del_p.R24fs|CASP5_ENST00000526056.1_Frame_Shift_Del_p.R24fs|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000418434.1_Intron			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	11					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TTCTTACGCCTTTTTTTTTTG	0.388																																																	0									,,,	18,749,3497		0,0,18,1,747,1366	101.0	98.0	99.0		,,,	-1.9	0.0	11		107	8,1495,6751		0,0,8,0,1495,2624	no	codingComplex,codingComplex,intron,intron	CASP5	NM_004347.3,NM_001136112.1,NM_001136110.1,NM_001136109.1	,,,	0,0,26,1,2242,3990	A1A1,A1A2,A1R,A2A2,A2R,RR		18.2094,17.9878,18.1339	,,,	,,,	104879687	26,2244,10248	2201	4299	6500	SO:0001589	frameshift_variant	838				CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.28delA	11.37:g.104879687delT	ENSP00000260315:p.Arg11fs		B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Frame_Shift_Del	DEL	ENST00000260315.3	37	CCDS8328.2																																																																																				0.388	CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2		NM_004347	
CEP192	55125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	13114196	13114196	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr18:13114196A>C	ENST00000325971.8	+	40	7040	c.5447A>C	c.(5446-5448)cAt>cCt	p.H1816P	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000506447.1_Missense_Mutation_p.H2412P|CEP192_ENST00000430049.2_Missense_Mutation_p.H1937P			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	1816					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)	p.H2412P(1)|p.H1816P(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAAATAGATCATTTAGTTAAG	0.408																																																	2	Substitution - Missense(2)	kidney(2)											149.0	147.0	148.0					18																	13114196		2203	4300	6503	SO:0001583	missense	55125			AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.5447A>C	18.37:g.13114196A>C	ENSP00000317156:p.His1816Pro		A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37		.	.	.	.	.	.	.	.	.	.	A	10.21	1.287974	0.23478	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049;ENST00000540847	T;T;T	0.06068	3.35;3.35;3.36	5.38	-0.322	0.12713	.	0.539112	0.21315	N	0.076562	T	0.02342	0.0072	N	0.08118	0	0.09310	N	1	B;B;B;B	0.10296	0.001;0.003;0.0;0.0	B;B;B;B	0.04013	0.001;0.001;0.0;0.0	T	0.41858	-0.9485	10	0.23302	T	0.38	-3.0E-4	1.7086	0.02887	0.2999:0.2629:0.0745:0.3627	.	1937;2412;416;1014	C9JT09;E9PF99;F5GZ47;Q9HCK3	.;.;.;.	P	2412;1816;1816;1937;416	ENSP00000427550:H2412P;ENSP00000317156:H1816P;ENSP00000389190:H1937P	ENSP00000317156:H1816P	H	+	2	0	CEP192	13104196	0.000000	0.05858	0.000000	0.03702	0.123000	0.20343	0.357000	0.20199	-0.277000	0.09193	0.374000	0.22700	CAT		0.408	CEP192-201	KNOWN	basic	protein_coding	protein_coding			NM_032142	
CFTR	1080	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	117232369	117232369	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr7:117232369G>T	ENST00000003084.6	+	14	2280	c.2148G>T	c.(2146-2148)aaG>aaT	p.K716N	CFTR_ENST00000454343.1_Missense_Mutation_p.K655N	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	716					cellular response to cAMP (GO:0071320)|cellular response to hormone stimulus (GO:0032870)|chloride transmembrane transport (GO:1902476)|cholesterol biosynthetic process (GO:0006695)|cholesterol transport (GO:0030301)|intracellular pH elevation (GO:0051454)|iodide transport (GO:0015705)|lung development (GO:0030324)|membrane hyperpolarization (GO:0060081)|positive regulation of vasodilation (GO:0045909)|positive regulation of voltage-gated chloride channel activity (GO:1902943)|respiratory gaseous exchange (GO:0007585)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to peptide hormone (GO:0043434)|sperm capacitation (GO:0048240)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)|vasodilation (GO:0042311)|water transport (GO:0006833)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|chloride channel complex (GO:0034707)|cytoplasmic vesicle membrane (GO:0030659)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-binding and phosphorylation-dependent chloride channel activity (GO:0005224)|bicarbonate transmembrane transporter activity (GO:0015106)|channel-conductance-controlling ATPase activity (GO:0005260)|chloride channel activity (GO:0005254)|chloride channel inhibitor activity (GO:0019869)|chloride transmembrane transporter activity (GO:0015108)|enzyme binding (GO:0019899)|PDZ domain binding (GO:0030165)	p.K716N(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Crofelemer(DB04941)|Glyburide(DB01016)|Ibuprofen(DB01050)|Ivacaftor(DB08820)	TTGTGCAAAAGACTCCCTTAC	0.398									Cystic Fibrosis																																								1	Substitution - Missense(1)	kidney(1)											50.0	49.0	49.0					7																	117232369		2203	4300	6503	SO:0001583	missense	1080	Familial Cancer Database	CF	M28668	CCDS5773.1	7q31-q32	2014-09-17	2006-09-18		ENSG00000001626	ENSG00000001626		"""Ion channels / Chloride channels : Cystic fibrosis transmembrane conductance regulators"", ""ATP binding cassette transporters / subfamily C"""	1884	protein-coding gene	gene with protein product	"""ATP-binding cassette sub-family C, member 7"""	602421	"""cystic fibrosis transmembrane conductance regulator, ATP-binding cassette (sub-family C, member 7)"""	CF, ABCC7		2772657	Standard	XM_006715842		Approved	MRP7, ABC35, TNR-CFTR, dJ760C5.1, CFTR/MRP	uc003vjd.3	P13569	OTTHUMG00000023076	ENST00000003084.6:c.2148G>T	7.37:g.117232369G>T	ENSP00000003084:p.Lys716Asn		Q20BG8|Q20BH2|Q2I0A1|Q2I102	Missense_Mutation	SNP	ENST00000003084.6	37	CCDS5773.1	.	.	.	.	.	.	.	.	.	.	G	9.455	1.091676	0.20471	.	.	ENSG00000001626	ENST00000003084;ENST00000454343;ENST00000426809	D;D;D	0.95412	-3.7;-3.7;-3.7	5.52	2.65	0.31530	.	0.236907	0.48767	D	0.000161	D	0.93848	0.8032	M	0.79805	2.47	0.39472	D	0.967737	B	0.20368	0.044	B	0.24006	0.05	D	0.88890	0.3345	10	0.33940	T	0.23	-19.3071	8.2149	0.31505	0.3947:0.0:0.6053:0.0	.	716	P13569	CFTR_HUMAN	N	716;655;686	ENSP00000003084:K716N;ENSP00000403677:K655N;ENSP00000389119:K686N	ENSP00000003084:K716N	K	+	3	2	CFTR	117019605	0.975000	0.34042	0.755000	0.31263	0.541000	0.35023	1.561000	0.36342	0.336000	0.23639	-0.251000	0.11542	AAG		0.398	CFTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059397.3		NM_000492	
CHIT1	1118	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	203188874	203188874	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr1:203188874T>A	ENST00000367229.1	-	8	867	c.833A>T	c.(832-834)gAc>gTc	p.D278V	CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000535569.1_Missense_Mutation_p.D269V|CHIT1_ENST00000255427.3_Missense_Mutation_p.D259V	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	278					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)	p.D278V(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CACTCTGGTGTCTGATGAGGA	0.602																																																	1	Substitution - Missense(1)	kidney(1)											50.0	51.0	51.0					1																	203188874		2203	4300	6503	SO:0001583	missense	1118			U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.833A>T	1.37:g.203188874T>A	ENSP00000356198:p.Asp278Val		B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Missense_Mutation	SNP	ENST00000367229.1	37	CCDS1436.1	.	.	.	.	.	.	.	.	.	.	T	11.58	1.682132	0.29872	.	.	ENSG00000133063	ENST00000367229;ENST00000255427;ENST00000535569	T;T;T	0.06068	3.35;3.35;3.35	5.2	4.08	0.47627	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.623392	0.15004	N	0.285965	T	0.14960	0.0361	L	0.50333	1.59	0.51482	D	0.999927	D;B;D	0.58620	0.973;0.165;0.983	P;B;P	0.59056	0.791;0.117;0.851	T	0.00647	-1.1628	10	0.72032	D	0.01	-11.4689	9.0722	0.36500	0.0:0.0872:0.0:0.9128	.	278;269;278	Q13231-3;G5EA51;Q13231	.;.;CHIT1_HUMAN	V	278;259;269	ENSP00000356198:D278V;ENSP00000255427:D259V;ENSP00000438078:D269V	ENSP00000255427:D259V	D	-	2	0	CHIT1	201455497	0.882000	0.30256	0.053000	0.19242	0.681000	0.39784	1.541000	0.36126	0.820000	0.34516	0.533000	0.62120	GAC		0.602	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000100275.2		NM_003465	
CHST9	83539	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	18	24496340	24496340	+	Silent	SNP	G	G	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr18:24496340G>T	ENST00000284224.8	-	6	1492	c.1215C>A	c.(1213-1215)acC>acA	p.T405T	CHST9_ENST00000581714.1_Silent_p.T405T|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|CHST9_ENST00000580774.1_3'UTR	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	405					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)	p.T405T(1)|p.T320T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					CTTGAGCATTGGTTCTTTCAT	0.353																																																	2	Substitution - coding silent(2)	kidney(2)											146.0	137.0	140.0					18																	24496340		1843	4092	5935	SO:0001819	synonymous_variant	83539			AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"""Sulfotransferases, membrane-bound"""	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.1215C>A	18.37:g.24496340G>T			Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Silent	SNP	ENST00000284224.8	37	CCDS42422.1																																																																																				0.353	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446549.1		NM_031422	
CNKSR2	22866	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	21667030	21667030	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chrX:21667030G>T	ENST00000379510.3	+	21	2810	c.2774G>T	c.(2773-2775)gGa>gTa	p.G925V	CNKSR2_ENST00000425654.2_Missense_Mutation_p.G895V	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	925					regulation of signal transduction (GO:0009966)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.G925V(1)		breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TCACCACTAGGAGAACATCGT	0.388																																																	1	Substitution - Missense(1)	kidney(1)											110.0	111.0	110.0					X																	21667030		2203	4300	6503	SO:0001583	missense	22866			AB020709	CCDS14198.1, CCDS55387.1, CCDS55388.1, CCDS55389.1	Xp22.12	2013-01-10			ENSG00000149970	ENSG00000149970		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	19701	protein-coding gene	gene with protein product		300724					Standard	NM_014927		Approved	KIAA0902, CNK2, KSR2	uc004czx.2	Q8WXI2	OTTHUMG00000021233	ENST00000379510.3:c.2774G>T	X.37:g.21667030G>T	ENSP00000368824:p.Gly925Val		B4DGR4|B7ZLJ1|B9EG83|E7ESA4|O94976|Q5JPK4|Q5JPN0|Q8WXI1	Missense_Mutation	SNP	ENST00000379510.3	37	CCDS14198.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.622973	0.66901	.	.	ENSG00000149970	ENST00000425654;ENST00000379510	T;T	0.39406	1.08;1.12	5.76	5.76	0.90799	.	0.100512	0.64402	D	0.000002	T	0.63165	0.2488	M	0.71036	2.16	0.80722	D	1	D;D	0.69078	0.997;0.997	P;P	0.61132	0.884;0.884	T	0.66472	-0.5915	10	0.87932	D	0	-6.1305	18.9593	0.92671	0.0:0.0:1.0:0.0	.	895;925	B7ZLJ1;Q8WXI2	.;CNKR2_HUMAN	V	895;925	ENSP00000397906:G895V;ENSP00000368824:G925V	ENSP00000368824:G925V	G	+	2	0	CNKSR2	21576951	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.497000	0.66924	2.426000	0.82243	0.600000	0.82982	GGA		0.388	CNKSR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056019.1		NM_014927	
CSMD3	114788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	113277723	113277723	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr8:113277723C>T	ENST00000297405.5	-	60	9849	c.9605G>A	c.(9604-9606)gGc>gAc	p.G3202D	CSMD3_ENST00000455883.2_Missense_Mutation_p.G3033D|CSMD3_ENST00000343508.3_Missense_Mutation_p.G3162D|CSMD3_ENST00000352409.3_Missense_Mutation_p.G3132D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3202	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.G3202D(1)|p.G3162D(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATCGTGTAGCCTGGCTGGCA	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							2	Substitution - Missense(2)	kidney(2)											203.0	170.0	181.0					8																	113277723		2203	4300	6503	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9605G>A	8.37:g.113277723C>T	ENSP00000297405:p.Gly3202Asp		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	C	31	5.074140	0.94000	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.76968	-1.06;-1.06;-1.06;-1.06;-1.06	5.44	5.44	0.79542	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	D	0.91835	0.7416	H	0.94620	3.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	1.0;1.0;0.947	D	0.93262	0.6644	10	0.62326	D	0.03	.	19.6111	0.95607	0.0:1.0:0.0:0.0	.	3033;3202;3162	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	D	3162;3202;2472;3033;3132	ENSP00000345799:G3162D;ENSP00000297405:G3202D;ENSP00000341558:G2472D;ENSP00000412263:G3033D;ENSP00000343124:G3132D	ENSP00000297405:G3202D	G	-	2	0	CSMD3	113346899	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.776000	0.85560	2.714000	0.92807	0.585000	0.79938	GGC		0.423	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		NM_052900	
CYFIP2	26999	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	156810297	156810297	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr5:156810297T>G	ENST00000521420.1	+	27	3150	c.3059T>G	c.(3058-3060)aTg>aGg	p.M1020R	CYFIP2_ENST00000541131.1_Missense_Mutation_p.M971R|CTB-47B11.3_ENST00000520658.1_RNA|CYFIP2_ENST00000442283.2_3'UTR|CYFIP2_ENST00000347377.6_Missense_Mutation_p.M1046R|CYFIP2_ENST00000435847.2_Missense_Mutation_p.M745R|CYFIP2_ENST00000318218.6_Missense_Mutation_p.M1071R|CTB-47B11.3_ENST00000508443.1_RNA|CYFIP2_ENST00000377576.3_Missense_Mutation_p.M1046R|CYFIP2_ENST00000522463.1_Missense_Mutation_p.M850R					cytoplasmic FMR1 interacting protein 2									p.M1071R(2)|p.M1046R(1)		breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGGTCCGGATGAAACGTCTG	0.557																																																	3	Substitution - Missense(3)	kidney(3)											36.0	39.0	38.0					5																	156810297		1906	4101	6007	SO:0001583	missense	26999			AF160973	CCDS75364.1	5q34	2008-07-18				ENSG00000055163			13760	protein-coding gene	gene with protein product	"""p53 inducible protein"""	606323				11438699	Standard	NM_001037333		Approved	PIR121	uc021ygm.1	Q96F07		ENST00000521420.1:c.3059T>G	5.37:g.156810297T>G	ENSP00000430904:p.Met1020Arg			Missense_Mutation	SNP	ENST00000521420.1	37		.	.	.	.	.	.	.	.	.	.	T	18.77	3.693876	0.68386	.	.	ENSG00000055163	ENST00000318218;ENST00000522463;ENST00000521420;ENST00000347377;ENST00000377576;ENST00000541131;ENST00000435847	T;T;T;T;T;T;T	0.23348	1.91;1.91;1.91;1.91;1.91;1.91;1.91	5.12	3.94	0.45596	.	0.000000	0.85682	D	0.000000	T	0.23014	0.0556	L	0.31065	0.9	0.80722	D	1	B;B;P;B;B;B	0.38745	0.073;0.033;0.645;0.017;0.066;0.249	B;B;P;B;B;B	0.44772	0.017;0.038;0.46;0.006;0.03;0.17	T	0.02269	-1.1185	10	0.23302	T	0.38	-12.5771	11.2081	0.48782	0.1376:0.0:0.0:0.8624	.	910;850;1020;1046;1046;1071	A8MUM2;E7EW33;E7EVJ5;E7EVF4;Q96F07-2;Q96F07	.;.;.;.;.;CYFP2_HUMAN	R	1071;850;1020;1046;1046;971;745	ENSP00000325817:M1071R;ENSP00000428009:M850R;ENSP00000430904:M1020R;ENSP00000313567:M1046R;ENSP00000366799:M1046R;ENSP00000444645:M971R;ENSP00000403793:M745R	ENSP00000325817:M1071R	M	+	2	0	CYFIP2	156742875	1.000000	0.71417	0.995000	0.50966	0.981000	0.71138	7.887000	0.87295	0.764000	0.33197	0.460000	0.39030	ATG		0.557	CYFIP2-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000373710.1		NM_001037332	
CYP46A1	10858	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	100166423	100166423	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr14:100166423T>C	ENST00000261835.3	+	5	532	c.428T>C	c.(427-429)cTg>cCg	p.L143P	CYP46A1_ENST00000423126.2_Missense_Mutation_p.L46P	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	143					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol catabolic process (GO:0006707)|nervous system development (GO:0007399)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol 24-hydroxylase activity (GO:0033781)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)	p.L143P(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GTCATAGACCTGGCCTTCAGC	0.622																																																	1	Substitution - Missense(1)	kidney(1)											68.0	59.0	62.0					14																	100166423		2203	4300	6503	SO:0001583	missense	10858			AF094480	CCDS9954.1	14q32.2	2013-05-03	2003-02-14	2003-02-28	ENSG00000036530	ENSG00000036530		"""Cytochrome P450s"""	2641	protein-coding gene	gene with protein product		604087	"""cytochrome P450, subfamily 46 (cholesterol 24-hydroxylase)"""	CYP46		10377398	Standard	NM_006668		Approved		uc001ygo.3	Q9Y6A2	OTTHUMG00000171510	ENST00000261835.3:c.428T>C	14.37:g.100166423T>C	ENSP00000261835:p.Leu143Pro		B4DHP8|E7EQG9|Q8N2B0	Missense_Mutation	SNP	ENST00000261835.3	37	CCDS9954.1	.	.	.	.	.	.	.	.	.	.	T	11.78	1.741716	0.30865	.	.	ENSG00000036530	ENST00000261835;ENST00000423126	T;T	0.75154	0.0;-0.91	4.84	3.71	0.42584	.	0.062208	0.64402	D	0.000004	T	0.27832	0.0685	N	0.00155	-1.965	0.50813	D	0.999897	B;B	0.30511	0.0;0.282	B;B	0.28011	0.001;0.085	T	0.54050	-0.8351	10	0.02654	T	1	.	6.438	0.21835	0.0:0.1062:0.0:0.8938	.	143;114	Q9Y6A2;Q59ER2	CP46A_HUMAN;.	P	143;46	ENSP00000261835:L143P;ENSP00000405779:L46P	ENSP00000261835:L143P	L	+	2	0	CYP46A1	99236176	0.991000	0.36638	0.996000	0.52242	0.969000	0.65631	1.557000	0.36299	2.116000	0.64780	0.533000	0.62120	CTG		0.622	CYP46A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413814.1			
CYP7A1	1581	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	59404310	59404310	+	Silent	SNP	A	A	C			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr8:59404310A>C	ENST00000301645.3	-	6	1376	c.1239T>G	c.(1237-1239)ctT>ctG	p.L413L		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	413					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.L413L(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CGTTTTCATCAAGATACCTAT	0.348									Neonatal Giant Cell Hepatitis																																								1	Substitution - coding silent(1)	kidney(1)	GRCh37	CD021814	CYP7A1	D							82.0	92.0	88.0					8																	59404310		2203	4300	6503	SO:0001819	synonymous_variant	1581	Familial Cancer Database	Neonatal Hemochromatosis	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.1239T>G	8.37:g.59404310A>C			P78454|Q3MIL8|Q7KZ19	Silent	SNP	ENST00000301645.3	37	CCDS6171.1																																																																																				0.348	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378190.1		NM_000780	
DACH1	1602	broad.mit.edu	37	13	72204836	72204836	+	Silent	SNP	G	G	A	rs539979201		TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr13:72204836G>A	ENST00000359684.2	-	3	983	c.984C>T	c.(982-984)gcC>gcT	p.A328A	DACH1_ENST00000305425.4_Silent_p.A328A|DACH1_ENST00000354591.4_Intron|DACH1_ENST00000313174.7_Silent_p.A328A			Q9UI36	DACH1_HUMAN	dachshund family transcription factor 1	328	Interaction with SIX6 and HDAC3. {ECO:0000250}.|Poly-Ala.				cell proliferation (GO:0008283)|development of primary female sexual characteristics (GO:0046545)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in contact inhibition (GO:0060244)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of transcription by competitive promoter binding (GO:0010944)|respiratory gaseous exchange (GO:0007585)|suckling behavior (GO:0001967)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity involved in preinitiation complex assembly (GO:0001075)	p.A328A(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		ctgctgcagcggctgcTGTCA	0.363													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17120	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	kidney(1)											84.0	76.0	78.0					13																	72204836		1807	4061	5868	SO:0001819	synonymous_variant	1602			AJ005670	CCDS41899.1, CCDS53874.1, CCDS53873.1	13q22	2014-02-03	2014-02-03	2004-04-02	ENSG00000165659	ENSG00000276644			2663	protein-coding gene	gene with protein product		603803	"""dachshund homolog (Drosophila)"", ""dachshund homolog 1 (Drosophila)"""	DACH		9933575, 10395809, 15057823	Standard	NM_004392		Approved		uc021rkj.1	Q9UI36	OTTHUMG00000017063	ENST00000359684.2:c.984C>T	13.37:g.72204836G>A			D0FY35|D0FY36|O75523|O75687|Q5VYY3|Q5VYY4|Q96SG3|Q96SG4|Q9H524|Q9UMH4	Silent	SNP	ENST00000359684.2	37																																																																																					0.363	DACH1-002	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045240.1		NM_004392	
DXO	1797	broad.mit.edu;hgsc.bcm.edu	37	6	31939426	31939426	+	Silent	SNP	T	T	C			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr6:31939426T>C	ENST00000375349.3	-	2	438	c.27A>G	c.(25-27)ggA>ggG	p.G9G	STK19_ENST00000375331.2_5'Flank|DXO_ENST00000337523.5_Silent_p.G9G|STK19_ENST00000375333.2_5'Flank|DXO_ENST00000478221.1_Intron|DXO_ENST00000375356.3_Silent_p.G9G			O77932	DXO_HUMAN	decapping exoribonuclease	9					metabolic process (GO:0008152)|mRNA catabolic process (GO:0006402)|nuclear mRNA surveillance (GO:0071028)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA destabilization (GO:0050779)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|magnesium ion binding (GO:0000287)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA pyrophosphohydrolase activity (GO:0034353)	p.G9G(1)									TCTTCTCAGCTCCTCTCTTGG	0.552																																																	1	Substitution - coding silent(1)	kidney(1)											68.0	78.0	74.0					6																	31939426		2203	4300	6503	SO:0001819	synonymous_variant	1797			AF059252	CCDS4732.1	6p21.3	2013-09-11	2013-09-11	2013-09-11	ENSG00000204348	ENSG00000204348			2992	protein-coding gene	gene with protein product		605996	"""DOM-3 (C. elegans) homolog Z"", ""dom-3 homolog Z (C. elegans)"""	DOM3Z		9799600, 23523372	Standard	NM_005510		Approved		uc003nyp.1	O77932	OTTHUMG00000031272	ENST00000375349.3:c.27A>G	6.37:g.31939426T>C			A2CER3|B0UZ80|O15004|O78127|O78128|Q5ST60|Q6IPZ2|Q9NPK4	Silent	SNP	ENST00000375349.3	37	CCDS4732.1																																																																																				0.552	DXO-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076592.3			
AGO3	192669	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	36499790	36499790	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr1:36499790T>G	ENST00000373191.4	+	13	1956	c.1607T>G	c.(1606-1608)gTa>gGa	p.V536G	AGO3_ENST00000246314.6_Missense_Mutation_p.V302G	NM_024852.3	NP_079128.2	Q9H9G7	AGO3_HUMAN	argonaute RISC catalytic component 3	536	Piwi. {ECO:0000255|HAMAP-Rule:MF_03032}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mRNA catabolic process (GO:0006402)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of stem cell proliferation (GO:0072091)	cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|RISC complex (GO:0016442)	miRNA binding (GO:0035198)|poly(A) RNA binding (GO:0044822)	p.V536G(1)									GTGAAACGTGTAGGAGACACA	0.348																																																	1	Substitution - Missense(1)	kidney(1)											68.0	64.0	66.0					1																	36499790		2203	4300	6503	SO:0001583	missense	192669			AB046787	CCDS399.1, CCDS400.1	1p34	2013-06-03	2013-02-15	2013-02-15	ENSG00000126070	ENSG00000126070		"""Argonaute/PIWI family"""	18421	protein-coding gene	gene with protein product	"""argonaute 3"""	607355	"""eukaryotic translation initiation factor 2C, 3"""	EIF2C3		12906857	Standard	NM_024852		Approved	hAGO3, FLJ12765	uc001bzp.3	Q9H9G7	OTTHUMG00000184172	ENST00000373191.4:c.1607T>G	1.37:g.36499790T>G	ENSP00000362287:p.Val536Gly		B1ALI0|Q5TA55|Q9H1U6	Missense_Mutation	SNP	ENST00000373191.4	37	CCDS399.1	.	.	.	.	.	.	.	.	.	.	T	23.7	4.444693	0.83993	.	.	ENSG00000126070	ENST00000373191;ENST00000246314	T;T	0.32023	1.47;1.47	4.65	4.65	0.58169	Stem cell self-renewal protein Piwi (3);Ribonuclease H-like (1);	0.000000	0.85682	D	0.000000	T	0.65626	0.2709	H	0.94734	3.575	0.80722	D	1	D	0.62365	0.991	D	0.72625	0.978	T	0.76958	-0.2766	10	0.87932	D	0	-34.2932	14.3595	0.66761	0.0:0.0:0.0:1.0	.	536	Q9H9G7	AGO3_HUMAN	G	536;302	ENSP00000362287:V536G;ENSP00000246314:V302G	ENSP00000246314:V302G	V	+	2	0	EIF2C3	36272377	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	1.855000	0.53841	0.533000	0.62120	GTA		0.348	AGO3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019831.4		NM_024852	
FAM135A	57579	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	71185175	71185175	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr6:71185175A>G	ENST00000418814.2	+	6	834	c.220A>G	c.(220-222)Att>Gtt	p.I74V	FAM135A_ENST00000370479.3_Missense_Mutation_p.I31V|FAM135A_ENST00000505769.1_Missense_Mutation_p.I74V|FAM135A_ENST00000361499.3_Missense_Mutation_p.I74V|FAM135A_ENST00000457062.2_Missense_Mutation_p.I31V|FAM135A_ENST00000505868.1_Missense_Mutation_p.I74V	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	74								p.I74V(1)|p.I31V(1)		breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AACATTTCAAATTTTGTACAA	0.279																																																	2	Substitution - Missense(2)	kidney(2)											42.0	44.0	43.0					6																	71185175		2192	4265	6457	SO:0001583	missense	57579			AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.220A>G	6.37:g.71185175A>G	ENSP00000410768:p.Ile74Val		A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.409380	0.83340	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000515323;ENST00000457062;ENST00000361499;ENST00000505868	T;T;T;T;T;T;T	0.78364	-1.17;1.46;-1.17;-1.17;1.46;-1.17;-1.17	5.3	5.3	0.74995	.	0.000000	0.85682	D	0.000000	D	0.83487	0.5265	M	0.69358	2.11	0.42057	D	0.991142	D;P;D;D	0.67145	0.996;0.93;0.996;0.996	D;D;D;D	0.79108	0.992;0.919;0.99;0.99	D	0.84257	0.0481	10	0.46703	T	0.11	.	15.5385	0.76021	1.0:0.0:0.0:0.0	.	74;74;74;31	D6RC17;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;F135A_HUMAN;.;.	V	74;31;74;74;31;74;74	ENSP00000410768:I74V;ENSP00000359510:I31V;ENSP00000423785:I74V;ENSP00000422406:I74V;ENSP00000409201:I31V;ENSP00000354913:I74V;ENSP00000423307:I74V	ENSP00000194672:I74V	I	+	1	0	FAM135A	71241896	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.287000	0.95975	2.141000	0.66446	0.455000	0.32223	ATT		0.279	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2		NM_020819	
RP11-383M4.6	0	broad.mit.edu	37	9	84547720	84547720	+	lincRNA	SNP	G	G	C	rs138456481	byFrequency	TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr9:84547720G>C	ENST00000585776.1	-	0	1039				SPATA31D4_ENST00000341875.4_RNA|RP11-383M4.2_ENST00000427387.1_lincRNA																							TGAGGACCACGGCGTTGATAC	0.418													N|||	173	0.0345447	0.1006	0.0086	5008	,	,		17728	0.004		0.0258	False		,,,				2504	0.0041																0																																												0																															9.37:g.84547720G>C				Missense_Mutation	SNP	ENST00000585776.1	37																																																																																					0.418	RP11-383M4.6-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000453562.1			
FSCN1	6624	broad.mit.edu;hgsc.bcm.edu	37	7	5632985	5632985	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr7:5632985C>T	ENST00000382361.3	+	1	532	c.418C>T	c.(418-420)Cct>Tct	p.P140S	FSCN1_ENST00000340250.6_Missense_Mutation_p.P119S	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin actin-bundling protein 1	140					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|cell motility (GO:0048870)|cell proliferation (GO:0008283)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|invadopodium (GO:0071437)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|drug binding (GO:0008144)|poly(A) RNA binding (GO:0044822)	p.P140S(1)		central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		CGCCATGCACCCTCAGGTCAA	0.706																																																	1	Substitution - Missense(1)	kidney(1)											42.0	34.0	37.0					7																	5632985		2202	4298	6500	SO:0001583	missense	6624			U03057	CCDS5342.1	7p22	2014-02-03	2014-02-03	2002-09-20	ENSG00000075618	ENSG00000075618		"""Fascins"""	11148	protein-coding gene	gene with protein product	"""Singed, drosophila, homolog-like"", ""actin bundling protein"""	602689	"""singed (Drosophila)-like (sea urchin fascin homolog like)"", ""fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)"""	SNL		8068206, 10783262	Standard	NM_003088		Approved	p55, FLJ38511	uc003sou.3	Q16658	OTTHUMG00000090599	ENST00000382361.3:c.418C>T	7.37:g.5632985C>T	ENSP00000371798:p.Pro140Ser		A6NI89|B2RE97|Q96IC5|Q96IH1|Q9BRF1	Missense_Mutation	SNP	ENST00000382361.3	37	CCDS5342.1	.	.	.	.	.	.	.	.	.	.	C	24.6	4.545806	0.86022	.	.	ENSG00000075618	ENST00000340250;ENST00000382361	T;T	0.42513	0.97;0.97	3.9	2.93	0.34026	Actin cross-linking (1);	0.000000	0.85682	D	0.000000	T	0.65913	0.2737	M	0.86651	2.83	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.72693	-0.4216	10	0.87932	D	0	0.183	11.4937	0.50396	0.0:0.8167:0.1833:0.0	.	140	Q16658	FSCN1_HUMAN	S	119;140	ENSP00000339729:P119S;ENSP00000371798:P140S	ENSP00000339729:P119S	P	+	1	0	FSCN1	5599511	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.544000	0.60691	1.729000	0.51567	0.462000	0.41574	CCT		0.706	FSCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207153.3		NM_003088	
GAGE12J	729396	broad.mit.edu;hgsc.bcm.edu	37	X	49179737	49179737	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chrX:49179737A>T	ENST00000442437.2	+	2	161	c.65A>T	c.(64-66)gAa>gTa	p.E22V		NM_001098406.1	NP_001091876.1	A6NER3	GG12J_HUMAN	G antigen 12J	22								p.E22V(1)		kidney(2)|large_intestine(2)|lung(1)|prostate(1)	6	Ovarian(276;0.236)					CAGCCTCCTGAAATGATTGGG	0.413																																																	1	Substitution - Missense(1)	kidney(1)											232.0	170.0	193.0					X																	49179737		1487	2608	4095	SO:0001583	missense	729396				CCDS43939.1	Xp11.23	2008-02-05	2007-07-23	2007-07-23	ENSG00000224659	ENSG00000224659			17778	protein-coding gene	gene with protein product		300733	"""G antigen 11"""	GAGE11			Standard	NM_001098406		Approved	OTTHUMG00000024137		A6NER3	OTTHUMG00000024137	ENST00000442437.2:c.65A>T	X.37:g.49179737A>T	ENSP00000409832:p.Glu22Val			Missense_Mutation	SNP	ENST00000442437.2	37	CCDS43939.1	.	.	.	.	.	.	.	.	.	.	.	9.686	1.150606	0.21371	.	.	ENSG00000224659	ENST00000442437	T	0.13538	2.58	0.682	-1.24	0.09435	.	.	.	.	.	T	0.31606	0.0802	M	0.77820	2.39	0.09310	N	1	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.87578	0.998;0.997;0.997	T	0.10405	-1.0631	8	0.87932	D	0	.	.	.	.	.	22;22;22	A6NER3;P0CL81;P0CL80	GG12J_HUMAN;GG12G_HUMAN;GG12F_HUMAN	V	22	ENSP00000409832:E22V	ENSP00000409832:E22V	E	+	2	0	GAGE12J	49066681	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.082000	0.11304	-0.412000	0.07519	0.151000	0.16131	GAA		0.413	GAGE12J-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060817.1		NM_001098406	
GPRASP1	9737	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	101912814	101912815	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chrX:101912814_101912815insT	ENST00000361600.5	+	5	4774_4775	c.3973_3974insT	c.(3973-3975)ctcfs	p.L1325fs	GPRASP1_ENST00000537097.1_Frame_Shift_Ins_p.L1325fs|GPRASP1_ENST00000415986.1_Frame_Shift_Ins_p.L1325fs|GPRASP1_ENST00000444152.1_Frame_Shift_Ins_p.L1325fs|RP4-769N13.7_ENST00000602441.1_RNA	NM_014710.4	NP_055525.3	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1325	OPRD1-binding.				endosome to lysosome transport (GO:0008333)|G-protein coupled receptor catabolic process (GO:1990172)	cytoplasm (GO:0005737)				NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ATTTATAGGCCTCTTTAACAGG	0.322																																																	0																																										SO:0001589	frameshift_variant	9737			AB007903	CCDS35352.1	Xq22.1	2014-03-21			ENSG00000198932	ENSG00000198932		"""Armadillo repeat containing"""	24834	protein-coding gene	gene with protein product		300417				9455477, 15086532, 16221301	Standard	NM_014710		Approved	GASP, GASP1	uc010nod.3	Q5JY77	OTTHUMG00000022061	ENST00000361600.5:c.3974dupT	X.37:g.101912815_101912815dupT	ENSP00000355146:p.Leu1325fs		O43168|Q96LA1	Frame_Shift_Ins	INS	ENST00000361600.5	37	CCDS35352.1																																																																																				0.322	GPRASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057634.2		NM_014710	
HK1	3098	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	71103744	71103744	+	Splice_Site	SNP	T	T	C			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr10:71103744T>C	ENST00000359426.6	+	2	329	c.225T>C	c.(223-225)tcT>tcC	p.S75S	HK1_ENST00000360289.2_Splice_Site_p.S63S|HK1_ENST00000298649.3_Splice_Site_p.S74S|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000448642.2_Splice_Site_p.S110S|HK1_ENST00000404387.2_Splice_Site_p.S79S	NM_000188.2	NP_000179.2	P19367	HXK1_HUMAN	hexokinase 1	75	Hexokinase type-1 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cell death (GO:0008219)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|mannokinase activity (GO:0019158)	p.S79S(1)|p.S74S(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CTGATGGCTCTGGTAAGTCTG	0.438																																																	2	Substitution - coding silent(2)	kidney(2)											78.0	70.0	73.0					10																	71103744		2203	4300	6503	SO:0001630	splice_region_variant	3098			M75126	CCDS7289.1, CCDS7290.1, CCDS7291.1, CCDS7292.1	10q22	2014-09-17			ENSG00000156515	ENSG00000156515	2.7.1.1		4922	protein-coding gene	gene with protein product		142600					Standard	NM_033496		Approved		uc001jpi.4	P19367	OTTHUMG00000018380	ENST00000359426.6:c.226+1T>C	10.37:g.71103744T>C			E9PCK0|O43443|O43444|O75574|Q5VTC3|Q96HC8|Q9NNZ4|Q9NNZ5	Silent	SNP	ENST00000359426.6	37	CCDS7292.1																																																																																				0.438	HK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048429.2		NM_000188	Silent
IGSF8	93185	broad.mit.edu;hgsc.bcm.edu	37	1	160063938	160063938	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr1:160063938A>G	ENST00000368086.1	-	3	682	c.466T>C	c.(466-468)Tct>Cct	p.S156P	IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Missense_Mutation_p.S156P			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	156					cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|nervous system development (GO:0007399)|single fertilization (GO:0007338)|skeletal muscle tissue development (GO:0007519)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)		p.S156P(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GGGGCAGCAGACACCTGGAGG	0.647																																																	1	Substitution - Missense(1)	kidney(1)											13.0	12.0	12.0					1																	160063938		2198	4296	6494	SO:0001583	missense	93185			AF407274	CCDS1195.1	1q23.1	2013-01-11			ENSG00000162729	ENSG00000162729		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	17813	protein-coding gene	gene with protein product		606644				11504738, 11673522	Standard	NM_001206665		Approved	CD81P3, EWI2, PGRL, CD316	uc009wtf.3	Q969P0	OTTHUMG00000024075	ENST00000368086.1:c.466T>C	1.37:g.160063938A>G	ENSP00000357065:p.Ser156Pro		Q8NG09|Q96DP4|Q9BTG9	Missense_Mutation	SNP	ENST00000368086.1	37	CCDS1195.1	.	.	.	.	.	.	.	.	.	.	A	17.59	3.428614	0.62844	.	.	ENSG00000162729	ENST00000314485;ENST00000368086;ENST00000358475;ENST00000448417	T;T;T	0.11930	3.28;3.28;2.73	4.19	4.19	0.49359	.	0.181299	0.34484	N	0.003922	T	0.17066	0.0410	L	0.46157	1.445	0.46298	D	0.998971	D	0.89917	1.0	D	0.69307	0.963	T	0.01452	-1.1351	10	0.33940	T	0.23	-11.5712	12.6613	0.56815	1.0:0.0:0.0:0.0	.	156	Q969P0	IGSF8_HUMAN	P	156	ENSP00000316664:S156P;ENSP00000357065:S156P;ENSP00000397464:S156P	ENSP00000316664:S156P	S	-	1	0	IGSF8	158330562	0.787000	0.28750	0.996000	0.52242	0.806000	0.45545	0.714000	0.25808	1.899000	0.54978	0.482000	0.46254	TCT		0.647	IGSF8-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060636.1		NM_052868	
IRX3	79191	broad.mit.edu;hgsc.bcm.edu	37	16	54319294	54319294	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr16:54319294T>C	ENST00000329734.3	-	2	1211	c.499A>G	c.(499-501)Acc>Gcc	p.T167A		NM_024336.2	NP_077312.2	P78415	IRX3_HUMAN	iroquois homeobox 3	167					mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of neuron differentiation (GO:0045666)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)|transcription, DNA-templated (GO:0006351)	axon (GO:0030424)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)	p.T167A(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	14						GTCATCTTGGTGATGATGGCC	0.627																																					GBM(143;1830 1866 4487 4646 37383)												1	Substitution - Missense(1)	kidney(1)											153.0	119.0	131.0					16																	54319294		2198	4296	6494	SO:0001583	missense	79191			U90308	CCDS10750.1	16q12.2	2011-06-20	2007-07-13		ENSG00000177508	ENSG00000177508		"""Homeoboxes / TALE class"""	14360	protein-coding gene	gene with protein product		612985					Standard	NM_024336		Approved	IRX-1	uc002eht.1	P78415	OTTHUMG00000133200	ENST00000329734.3:c.499A>G	16.37:g.54319294T>C	ENSP00000331608:p.Thr167Ala		Q7Z4A4|Q7Z4A5|Q8IVC6	Missense_Mutation	SNP	ENST00000329734.3	37	CCDS10750.1	.	.	.	.	.	.	.	.	.	.	T	23.8	4.463611	0.84425	.	.	ENSG00000177508	ENST00000329734	D	0.95069	-3.6	4.44	4.44	0.53790	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.95843	0.8647	M	0.66560	2.04	0.58432	D	0.999997	B	0.31893	0.345	P	0.50934	0.654	D	0.95947	0.8951	10	0.87932	D	0	-19.2013	11.7058	0.51597	0.0:0.0:0.0:1.0	.	167	P78415	IRX3_HUMAN	A	167	ENSP00000331608:T167A	ENSP00000331608:T167A	T	-	1	0	IRX3	52876795	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.573000	0.82421	1.861000	0.53984	0.460000	0.39030	ACC		0.627	IRX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256910.2			
ITGA10	8515	broad.mit.edu;hgsc.bcm.edu	37	1	145534208	145534208	+	Silent	SNP	G	G	A			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr1:145534208G>A	ENST00000369304.3	+	14	1888	c.1713G>A	c.(1711-1713)gcG>gcA	p.A571A	ITGA10_ENST00000538811.1_Silent_p.A440A|ITGA10_ENST00000539363.1_Silent_p.A428A	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	571					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	integrin alpha10-beta1 complex (GO:0034680)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)	p.A571A(1)		NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTGTGGGGGCGCCTCTGGAAG	0.577																																																	1	Substitution - coding silent(1)	kidney(1)											108.0	114.0	112.0					1																	145534208		2203	4300	6503	SO:0001819	synonymous_variant	8515			AF074015	CCDS72869.1	1q21.1	2010-03-23			ENSG00000143127	ENSG00000143127		"""Integrins"""	6135	protein-coding gene	gene with protein product		604042				9685391, 10702680	Standard	NM_003637		Approved		uc001eoa.3	O75578	OTTHUMG00000013751	ENST00000369304.3:c.1713G>A	1.37:g.145534208G>A			B2RAM4|B2RTV5|Q6UXJ6|Q9UHZ8	Silent	SNP	ENST00000369304.3	37	CCDS918.1																																																																																				0.577	ITGA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038537.2		NM_003637	
ITGA1	3672	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	52221264	52221264	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr5:52221264A>T	ENST00000282588.6	+	19	3018	c.2560A>T	c.(2560-2562)Aac>Tac	p.N854Y		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	854					activation of MAPK activity (GO:0000187)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-matrix adhesion (GO:0007160)|cellular extravasation (GO:0045123)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neutrophil chemotaxis (GO:0030593)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|vasodilation (GO:0042311)	acrosomal vesicle (GO:0001669)|basal part of cell (GO:0045178)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha1-beta1 complex (GO:0034665)|integrin complex (GO:0008305)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)	collagen binding (GO:0005518)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|protein phosphatase binding (GO:0019903)	p.N854Y(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				CAGTGCCTATAACACCAGGAC	0.388																																																	1	Substitution - Missense(1)	kidney(1)											137.0	117.0	124.0					5																	52221264		2203	4300	6503	SO:0001583	missense	3672			X68742	CCDS3955.1	5q11.1	2010-03-23			ENSG00000213949	ENSG00000213949		"""CD molecules"", ""Integrins"""	6134	protein-coding gene	gene with protein product		192968				8428973, 11937138	Standard	NM_181501		Approved	VLA1, CD49a	uc003jou.3	P56199	OTTHUMG00000131163	ENST00000282588.6:c.2560A>T	5.37:g.52221264A>T	ENSP00000282588:p.Asn854Tyr		B2RNU0	Missense_Mutation	SNP	ENST00000282588.6	37	CCDS3955.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.298675	0.81025	.	.	ENSG00000213949	ENST00000282588	T	0.51071	0.72	5.66	5.66	0.87406	Integrin alpha-2 (1);	0.000000	0.85682	D	0.000000	T	0.67325	0.2881	M	0.67700	2.07	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68606	-0.5364	10	0.51188	T	0.08	.	15.9027	0.79392	1.0:0.0:0.0:0.0	.	854	P56199	ITA1_HUMAN	Y	854	ENSP00000282588:N854Y	ENSP00000282588:N854Y	N	+	1	0	ITGA1	52257021	1.000000	0.71417	0.989000	0.46669	0.928000	0.56348	6.852000	0.75430	2.146000	0.66826	0.533000	0.62120	AAC		0.388	ITGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253855.3		NM_181501	
ITM2A	9452	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	78618083	78618083	+	Silent	SNP	G	G	A			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chrX:78618083G>A	ENST00000373298.2	-	4	690	c.547C>T	c.(547-549)Ctg>Ttg	p.L183L	ITM2A_ENST00000434584.2_Silent_p.L139L|ITM2A_ENST00000469541.1_5'UTR	NM_004867.4	NP_004858.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	183	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.					integral component of membrane (GO:0016021)		p.L183L(1)		breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						CATACCGCCAGTTTGCCAAAG	0.348																																																	1	Substitution - coding silent(1)	kidney(1)											57.0	53.0	55.0					X																	78618083		2203	4299	6502	SO:0001819	synonymous_variant	9452			BC034485	CCDS14444.1, CCDS55455.1	Xq13.3-q21.2	2012-10-10			ENSG00000078596	ENSG00000078596		"""BRICHOS domain containing"""	6173	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2A"""	300222				9892734, 8702637	Standard	NM_004867		Approved	BRICD2A, E25A	uc004edh.3	O43736	OTTHUMG00000021900	ENST00000373298.2:c.547C>T	X.37:g.78618083G>A			B2R7X5|B4E062|Q6IBC9	Silent	SNP	ENST00000373298.2	37	CCDS14444.1																																																																																				0.348	ITM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057329.1		NM_004867	
KCNK2	3776	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	215408257	215408257	+	Silent	SNP	G	G	A			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr1:215408257G>A	ENST00000444842.2	+	7	1200	c.1050G>A	c.(1048-1050)gaG>gaA	p.E350E	KCNK2_ENST00000391895.2_Silent_p.E346E|KCNK2_ENST00000391894.2_Silent_p.E335E	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	350					G-protein coupled receptor signaling pathway (GO:0007186)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|potassium ion leak channel activity (GO:0022841)	p.E335E(1)|p.E350E(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)|Dronedarone(DB04855)	TGAGTGTGGAGATTTATGACA	0.547																																																	2	Substitution - coding silent(2)	kidney(2)											88.0	84.0	86.0					1																	215408257		2203	4300	6503	SO:0001819	synonymous_variant	3776			AF004711	CCDS31024.1, CCDS41466.1, CCDS41467.1	1q41	2012-03-07			ENSG00000082482	ENSG00000082482		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6277	protein-coding gene	gene with protein product		603219				9721223, 16382106	Standard	NM_001017424		Approved	K2p2.1, TREK-1	uc001hkr.4	O95069	OTTHUMG00000037017	ENST00000444842.2:c.1050G>A	1.37:g.215408257G>A			A1Z1V3|A8K618|B2RCS4|B7ZL56|D3DTA5|Q5DP47|Q5DP48|Q9NRT2|Q9UNE3	Silent	SNP	ENST00000444842.2	37	CCDS41467.1																																																																																				0.547	KCNK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089856.2		NM_014217	
KIF13A	63971	broad.mit.edu;hgsc.bcm.edu	37	6	17850652	17850652	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr6:17850652G>C	ENST00000259711.6	-	8	724	c.619C>G	c.(619-621)Cga>Gga	p.R207G	KIF13A_ENST00000378816.5_Missense_Mutation_p.R207G|KIF13A_ENST00000378826.2_Missense_Mutation_p.R207G|KIF13A_ENST00000378843.2_Missense_Mutation_p.R207G|KIF13A_ENST00000378814.5_Missense_Mutation_p.R207G	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	207	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|cargo loading into vesicle (GO:0035459)|cytokinesis (GO:0000910)|endosome to lysosome transport (GO:0008333)|Golgi to plasma membrane protein transport (GO:0043001)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end-directed vesicle transport along microtubule (GO:0072383)	centrosome (GO:0005813)|endosome membrane (GO:0010008)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|trans-Golgi network membrane (GO:0032588)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.R207G(2)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GCTACCGTTCGAGACTTATTT	0.453																																																	2	Substitution - Missense(2)	kidney(2)											101.0	99.0	99.0					6																	17850652		1934	4122	6056	SO:0001583	missense	63971			AJ291578	CCDS47380.1, CCDS47381.1, CCDS54967.1, CCDS54968.1, CCDS58998.1	6p23	2008-10-21			ENSG00000137177	ENSG00000137177		"""Kinesins"""	14566	protein-coding gene	gene with protein product		605433				11106728	Standard	NM_022113		Approved	bA500C11.2	uc003ncg.4	Q9H1H9	OTTHUMG00000014313	ENST00000259711.6:c.619C>G	6.37:g.17850652G>C	ENSP00000259711:p.Arg207Gly		A0JP21|A0JP22|F2Z382|Q5THQ2|Q5THQ3|Q9H193|Q9H194|Q9H1H8	Missense_Mutation	SNP	ENST00000259711.6	37	CCDS47381.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.988485	0.93106	.	.	ENSG00000137177	ENST00000378814;ENST00000259711;ENST00000378826;ENST00000378843;ENST00000378816	D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6	5.78	5.78	0.91487	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.95843	0.8647	H	0.99626	4.665	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97614	1.0131	10	0.87932	D	0	.	20.0139	0.97470	0.0:0.0:1.0:0.0	.	207;207;207;207	Q9H1H9-4;Q9H1H9-2;Q9H1H9;Q9H1H9-3	.;.;KI13A_HUMAN;.	G	207	ENSP00000368091:R207G;ENSP00000259711:R207G;ENSP00000368103:R207G;ENSP00000368120:R207G;ENSP00000368093:R207G	ENSP00000259711:R207G	R	-	1	2	KIF13A	17958631	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.238000	0.72350	2.724000	0.93272	0.563000	0.77884	CGA		0.453	KIF13A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000039954.4			
KRT4	3851	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	53207945	53207945	+	De_novo_Start_OutOfFrame	SNP	G	G	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr12:53207945G>T	ENST00000551956.1	-	0	390				KRT4_ENST00000458244.2_5'Flank|KRT4_ENST00000293774.4_Silent_p.P40P			P19013	K2C4_HUMAN	keratin 4						cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)	p.P40P(1)		endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						TGGAGCAGCAGGGCTTGGTTG	0.572																																					Pancreas(190;284 2995 41444 45903)												1	Substitution - coding silent(1)	kidney(1)											37.0	42.0	40.0					12																	53207945		1948	4154	6102			3851				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.-103C>A	12.37:g.53207945G>T			F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Silent	SNP	ENST00000551956.1	37	CCDS41787.2																																																																																				0.572	KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1		NM_002272	
LOC645752	645752	broad.mit.edu	37	15	78207569	78207569	+	lincRNA	SNP	G	G	A	rs56314252	byFrequency	TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr15:78207569G>A	ENST00000565869.1	+	0	0				RN7SL214P_ENST00000487317.2_RNA																							GATCTGCTGTGCAGTGGGGTT	0.572																																																	0																																												645752																															15.37:g.78207569G>A				Missense_Mutation	SNP	ENST00000565869.1	37																																																																																					0.572	RP11-114H24.7-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000421587.1			
MAGEE1	57692	broad.mit.edu;hgsc.bcm.edu	37	X	75649863	75649863	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chrX:75649863G>T	ENST00000361470.2	+	1	1818	c.1540G>T	c.(1540-1542)Gag>Tag	p.E514*		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	514	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)		p.E514*(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCCTATCCGGGAGTCTGAAAT	0.488																																																	2	Substitution - Nonsense(2)	kidney(2)											57.0	57.0	57.0					X																	75649863		2203	4300	6503	SO:0001587	stop_gained	57692			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.1540G>T	X.37:g.75649863G>T	ENSP00000354912:p.Glu514*		Q5JXC7|Q86TG0|Q8TD92|Q9H216	Nonsense_Mutation	SNP	ENST00000361470.2	37	CCDS14433.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.580475	0.65992	.	.	ENSG00000198934	ENST00000361470	.	.	.	2.13	1.24	0.21308	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	.	4.2951	0.10897	0.2126:0.0:0.7874:0.0	.	.	.	.	X	514	.	ENSP00000354912:E514X	E	+	1	0	MAGEE1	75566267	0.994000	0.37717	0.006000	0.13384	0.001000	0.01503	1.141000	0.31528	0.320000	0.23234	-0.215000	0.12644	GAG		0.488	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057298.1		NM_020932	
MAP9	79884	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	156281456	156281457	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr4:156281456_156281457insT	ENST00000311277.4	-	7	1176_1177	c.913_914insA	c.(913-915)agtfs	p.S305fs	AC097467.2_ENST00000609716.1_RNA|AC097467.2_ENST00000609254.1_RNA|AC097467.2_ENST00000608544.1_RNA|AC097467.2_ENST00000608406.1_RNA|AC097467.2_ENST00000596165.1_RNA|AC097467.2_ENST00000596754.1_RNA|AC097467.2_ENST00000598890.1_RNA|MAP9_ENST00000515654.1_Frame_Shift_Ins_p.S281fs|AC097467.2_ENST00000417474.1_RNA|AC097467.2_ENST00000598252.1_RNA|AC097467.2_ENST00000597831.1_RNA|AC097467.2_ENST00000600928.1_RNA|AC097467.2_ENST00000594492.1_RNA|AC097467.2_ENST00000608762.1_RNA|AC097467.2_ENST00000594666.1_RNA	NM_001039580.1	NP_001034669.1	Q49MG5	MAP9_HUMAN	microtubule-associated protein 9	305					cytokinesis (GO:0000910)|regulation of mitosis (GO:0007088)|spindle assembly involved in mitosis (GO:0090307)	astral microtubule (GO:0000235)|mitotic spindle midzone (GO:1990023)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.143)		AGTCACTTGACTTTCCTTGGAT	0.371																																																	0																																										SO:0001589	frameshift_variant	79884			AK024812	CCDS35493.1	4q32.1	2008-02-05			ENSG00000164114	ENSG00000164114			26118	protein-coding gene	gene with protein product	"""aster-associated protein"""	610070				16049101	Standard	XM_006714306		Approved	ASAP, FLJ21159	uc003ios.3	Q49MG5	OTTHUMG00000133628	ENST00000311277.4:c.914dupA	4.37:g.156281459_156281459dupT	ENSP00000310593:p.Ser305fs		Q4W5I7|Q68DU1|Q9H781|Q9H7B6	Frame_Shift_Ins	INS	ENST00000311277.4	37	CCDS35493.1																																																																																				0.371	MAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257771.3		NM_001039580	
MDN1	23195	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	90399594	90399595	+	Frame_Shift_Ins	INS	-	-	G	rs373904969		TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr6:90399594_90399595insG	ENST00000369393.3	-	65	11132_11133	c.11017_11018insC	c.(11017-11019)ctgfs	p.L3673fs	MDN1_ENST00000428876.1_Frame_Shift_Ins_p.L3673fs			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3673					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)			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)		CATACCCATCAGGGGGTAGAAG	0.45																																																	0																																										SO:0001589	frameshift_variant	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.11018dupC	6.37:g.90399599_90399599dupG	ENSP00000358400:p.Leu3673fs		O15019|Q5T794	Frame_Shift_Ins	INS	ENST00000369393.3	37	CCDS5024.1																																																																																				0.450	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			
MGEA5	10724	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	103557823	103557823	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr10:103557823T>C	ENST00000361464.3	-	10	2293	c.1898A>G	c.(1897-1899)aAc>aGc	p.N633S	MGEA5_ENST00000357797.5_Missense_Mutation_p.N580S|MGEA5_ENST00000439817.1_Missense_Mutation_p.N580S|MGEA5_ENST00000370094.3_Missense_Mutation_p.N633S|MGEA5_ENST00000482611.1_5'UTR	NM_012215.3	NP_036347.1	O60502	OGA_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	633					aging (GO:0007568)|dATP metabolic process (GO:0046060)|glycoprotein catabolic process (GO:0006516)|N-acetylglucosamine metabolic process (GO:0006044)|necrotic cell death (GO:0070265)|negative regulation of cardiac muscle adaptation (GO:0010616)|negative regulation of protein glycosylation (GO:0060051)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cell killing (GO:0031343)|positive regulation of DNA metabolic process (GO:0051054)|positive regulation of glucose import (GO:0046326)|positive regulation of growth hormone secretion (GO:0060124)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of protein complex disassembly (GO:0043243)|positive regulation of proteolysis (GO:0045862)|protein targeting to membrane (GO:0006612)|response to steroid hormone (GO:0048545)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	histone acetyltransferase activity (GO:0004402)|hyalurononglucosaminidase activity (GO:0004415)	p.N633S(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		AATTGTCCTGTTGGCACAATT	0.433																																																	1	Substitution - Missense(1)	kidney(1)											141.0	126.0	131.0					10																	103557823		2203	4300	6503	SO:0001583	missense	10724			AF036144	CCDS7520.1, CCDS44471.1	10q24.1-q24.3	2008-08-01			ENSG00000198408	ENSG00000198408			7056	protein-coding gene	gene with protein product	"""nuclear cytoplasmic O-GlcNAcase and acetyltransferase"""	604039				9811929, 16356930	Standard	NM_012215		Approved	MEA5, NCOAT, OGA	uc001ktv.2	O60502	OTTHUMG00000018939	ENST00000361464.3:c.1898A>G	10.37:g.103557823T>C	ENSP00000354850:p.Asn633Ser		B7WPB9|D3DR79|E9PGF9|O75166|Q86WV0|Q8IV98|Q9BVA5|Q9HAR0	Missense_Mutation	SNP	ENST00000361464.3	37	CCDS7520.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.418768	0.83559	.	.	ENSG00000198408	ENST00000439817;ENST00000361464;ENST00000357797;ENST00000370094	T;T;T;T	0.46451	0.98;0.98;0.93;0.87	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.64182	0.2575	M	0.72353	2.195	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79784	0.965;0.989;0.993;0.983	T	0.65319	-0.6197	10	0.49607	T	0.09	-16.5558	16.0674	0.80893	0.0:0.0:0.0:1.0	.	580;580;633;633	E9PGF9;O60502-2;O60502-3;O60502	.;.;.;NCOAT_HUMAN	S	580;633;580;633	ENSP00000409973:N580S;ENSP00000354850:N633S;ENSP00000350445:N580S;ENSP00000359112:N633S	ENSP00000350445:N580S	N	-	2	0	MGEA5	103547813	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.036000	0.88901	2.197000	0.70478	0.533000	0.62120	AAC		0.433	MGEA5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049987.1		NM_012215	
KMT2D	8085	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	49425039	49425039	+	Silent	SNP	C	C	T	rs376096667		TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr12:49425039C>T	ENST00000301067.7	-	39	13448	c.13449G>A	c.(13447-13449)ctG>ctA	p.L4483L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4483					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.L4483L(1)|p.L4213L(1)									TCTCAGCTCGCAGCCCCTCGG	0.597																																																	2	Substitution - coding silent(2)	kidney(2)											81.0	88.0	86.0					12																	49425039		2068	4204	6272	SO:0001819	synonymous_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.13449G>A	12.37:g.49425039C>T			O14687	Silent	SNP	ENST00000301067.7	37	CCDS44873.1																																																																																				0.597	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			
MTHFD1	4522	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	64855180	64855180	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr14:64855180T>A	ENST00000545908.1	+	1	432	c.203T>A	c.(202-204)aTc>aAc	p.I68N	MTHFD1_ENST00000216605.8_Missense_Mutation_p.I12N			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	12	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process (GO:0046655)|folic acid-containing compound biosynthetic process (GO:0009396)|histidine biosynthetic process (GO:0000105)|methionine biosynthetic process (GO:0009086)|one-carbon metabolic process (GO:0006730)|purine nucleotide biosynthetic process (GO:0006164)|small molecule metabolic process (GO:0044281)|tetrahydrofolate interconversion (GO:0035999)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|methylenetetrahydrofolate dehydrogenase [NAD(P)+] activity (GO:0004486)	p.I12N(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	Tetrahydrofolic acid(DB00116)	GGGAAGGAGATCTCCGCGTAA	0.592																																					Colon(18;220 581 13419 18191 31512)|GBM(126;343 1658 28700 44425 52519)												1	Substitution - Missense(1)	kidney(1)											155.0	127.0	137.0					14																	64855180		2203	4300	6503	SO:0001583	missense	4522			J04031	CCDS9763.1	14q24	2004-12-13			ENSG00000100714	ENSG00000100714	1.5.1.15, 3.5.4.-		7432	protein-coding gene	gene with protein product		172460		MTHFC, MTHFD		3053686, 2786332	Standard	NM_005956		Approved		uc001xhb.3	P11586	OTTHUMG00000141309	ENST00000545908.1:c.203T>A	14.37:g.64855180T>A	ENSP00000438588:p.Ile68Asn		B2R5Y2|G3V2B8|Q86VC9|Q9BVP5	Missense_Mutation	SNP	ENST00000545908.1	37		.	.	.	.	.	.	.	.	.	.	T	20.9	4.071691	0.76301	.	.	ENSG00000100714	ENST00000545908;ENST00000555709;ENST00000216605;ENST00000555252	T;T;T;T	0.26660	2.55;2.57;2.56;1.72	5.25	4.09	0.47781	Tetrahydrofolate dehydrogenase/cyclohydrolase, catalytic domain (1);	0.273631	0.36555	N	0.002521	T	0.46833	0.1413	M	0.90369	3.11	0.35829	D	0.825175	P;B;B	0.46621	0.881;0.308;0.421	P;P;B	0.53490	0.727;0.66;0.361	T	0.61515	-0.7047	10	0.87932	D	0	-10.8187	7.3173	0.26507	0.0:0.1033:0.0:0.8967	.	68;12;12	F5H2F4;P11586;G3V2B8	.;C1TC_HUMAN;.	N	68;12;68;12	ENSP00000438588:I68N;ENSP00000450560:I12N;ENSP00000216605:I68N;ENSP00000451309:I12N	ENSP00000216605:I12N	I	+	2	0	MTHFD1	63924933	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.876000	0.39588	1.093000	0.41377	0.533000	0.62120	ATC		0.592	MTHFD1-002	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000412167.1			
MYO1E	4643	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	59470597	59470597	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr15:59470597C>G	ENST00000288235.4	-	19	2443	c.2044G>C	c.(2044-2046)Gag>Cag	p.E682Q		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	682	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)	p.E682Q(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CTCACAGACTCGGGGGCTTTG	0.612																																																	1	Substitution - Missense(1)	kidney(1)											96.0	79.0	84.0					15																	59470597		2191	4291	6482	SO:0001583	missense	4643			U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.2044G>C	15.37:g.59470597C>G	ENSP00000288235:p.Glu682Gln		Q14778	Missense_Mutation	SNP	ENST00000288235.4	37	CCDS32254.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.240223	0.79912	.	.	ENSG00000157483	ENST00000288235	D	0.95377	-3.69	4.94	4.94	0.65067	Myosin head, motor domain (1);	0.000000	0.85682	D	0.000000	D	0.97173	0.9076	M	0.76433	2.335	0.80722	D	1	D	0.62365	0.991	P	0.60949	0.881	D	0.97774	1.0228	10	0.87932	D	0	.	18.3412	0.90305	0.0:1.0:0.0:0.0	.	682	Q12965	MYO1E_HUMAN	Q	682	ENSP00000288235:E682Q	ENSP00000288235:E682Q	E	-	1	0	MYO1E	57257889	1.000000	0.71417	0.951000	0.38953	0.831000	0.47069	7.651000	0.83577	2.552000	0.86080	0.655000	0.94253	GAG		0.612	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416024.1		NM_004998	
NEB	4703	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	152362014	152362014	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	T	T	T	-	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr2:152362014delT	ENST00000172853.10	-	137	18764	c.18617delA	c.(18616-18618)gagfs	p.E6206fs	NEB_ENST00000397345.3_Frame_Shift_Del_p.E7907fs|NEB_ENST00000427231.2_Frame_Shift_Del_p.E7907fs|NEB_ENST00000509223.2_Frame_Shift_Del_p.E37fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.E7907fs|NEB_ENST00000604864.1_Frame_Shift_Del_p.E7907fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.E6206fs|NEB_ENST00000498015.2_5'UTR|NEB_ENST00000397336.2_5'Flank			P20929	NEBU_HUMAN	nebulin	6206					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTTCTGCGTCTCCTTCACACG	0.463																																																	0													252.0	253.0	252.0					2																	152362014		2032	4179	6211	SO:0001589	frameshift_variant	4703			X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.18617delA	2.37:g.152362014delT	ENSP00000172853:p.Glu6206fs		F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Frame_Shift_Del	DEL	ENST00000172853.10	37																																																																																					0.463	NEB-201	KNOWN	basic	protein_coding	protein_coding			NM_004543	
NELL2	4753	broad.mit.edu;hgsc.bcm.edu	37	12	44917251	44917251	+	Silent	SNP	C	C	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr12:44917251C>T	ENST00000429094.2	-	17	2325	c.1821G>A	c.(1819-1821)ggG>ggA	p.G607G	NELL2_ENST00000437801.2_Silent_p.G657G|NELL2_ENST00000395487.2_Silent_p.G606G|NELL2_ENST00000551601.1_Silent_p.G559G|NELL2_ENST00000333837.4_Silent_p.G630G|NELL2_ENST00000549027.1_Silent_p.G606G|NELL2_ENST00000452445.2_Silent_p.G607G	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	607	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.G607G(1)|p.G657G(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GCCTCCCGGTCCCACACTCAT	0.453																																																	2	Substitution - coding silent(2)	kidney(2)											77.0	73.0	74.0					12																	44917251		2203	4300	6503	SO:0001819	synonymous_variant	4753			D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.1821G>A	12.37:g.44917251C>T			B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Silent	SNP	ENST00000429094.2	37	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	C	9.442	1.088343	0.20390	.	.	ENSG00000184613	ENST00000550139	.	.	.	5.46	2.18	0.27775	.	.	.	.	.	T	0.44498	0.1296	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28170	-1.0052	4	.	.	.	-13.819	2.7562	0.05293	0.2694:0.3827:0.2489:0.099	.	.	.	.	N	20	.	.	D	-	1	0	NELL2	43203518	0.956000	0.32656	1.000000	0.80357	0.998000	0.95712	0.157000	0.16402	0.616000	0.30141	0.643000	0.83706	GAC		0.453	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1		NM_006159	
NLN	57486	broad.mit.edu	37	5	65088386	65088386	+	Silent	SNP	A	A	C	rs201411983		TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr5:65088386A>C	ENST00000380985.5	+	9	1609	c.1431A>C	c.(1429-1431)tcA>tcC	p.S477S	NLN_ENST00000502464.1_Silent_p.S373S	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	477						mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)	p.S477S(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		TGAACTTCTCACAGCCAGTGG	0.552																																																	1	Substitution - coding silent(1)	kidney(1)											99.0	92.0	95.0					5																	65088386		2203	4300	6503	SO:0001819	synonymous_variant	57486			AJ300837	CCDS3989.1	5q12.3	2008-02-05	2005-03-31		ENSG00000123213	ENSG00000123213	3.4.24.16		16058	protein-coding gene	gene with protein product		611530	"""angiotensin binding protein"""	AGTBP		10574462	Standard	NM_020726		Approved	KIAA1226	uc003juf.3	Q9BYT8	OTTHUMG00000097803	ENST00000380985.5:c.1431A>C	5.37:g.65088386A>C			Q9ULJ4	Silent	SNP	ENST00000380985.5	37	CCDS3989.1	.	.	.	.	.	.	.	.	.	.	A	11.34	1.610145	0.28712	.	.	ENSG00000123213	ENST00000509935	.	.	.	5.78	-11.6	0.00059	.	.	.	.	.	T	0.33847	0.0877	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42849	-0.9427	4	.	.	.	-8.7894	3.6172	0.08082	0.2177:0.4108:0.2277:0.1438	.	.	.	.	P	74	.	.	T	+	1	0	NLN	65124142	0.002000	0.14202	0.434000	0.26772	0.976000	0.68499	-1.135000	0.03225	-2.385000	0.00590	0.533000	0.62120	ACA		0.552	NLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215060.1			
NOD2	64127	broad.mit.edu;ucsc.edu	37	16	50745117	50745117	+	Missense_Mutation	SNP	C	C	T	rs2076754	byFrequency	TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr16:50745117C>T	ENST00000300589.2	+	4	1400	c.1295C>T	c.(1294-1296)gCg>gTg	p.A432V	RP11-327F22.6_ENST00000602304.1_RNA	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	432	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.		A -> V (associated with Crohn disease; dbSNP:rs2076754). {ECO:0000269|PubMed:11385576}.		activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)	p.A432V(1)		cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GCTGTGTCGGCGTTCCTCAGG	0.612																																																	1	Substitution - Missense(1)	kidney(1)	GRCh37	CM015862	NOD2	M	rs2076754	C	VAL/ALA	1,4395	2.1+/-5.4	0,1,2197	46.0	50.0	49.0		1295	5.3	0.1	16	dbSNP_96	49	1,8599	1.2+/-3.3	0,1,4299	yes	missense	NOD2	NM_022162.1	64	0,2,6496	TT,TC,CC		0.0116,0.0227,0.0154	possibly-damaging	432/1041	50745117	2,12994	2198	4300	6498	SO:0001583	missense	64127			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.1295C>T	16.37:g.50745117C>T	ENSP00000300589:p.Ala432Val		E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Missense_Mutation	SNP	ENST00000300589.2	37	CCDS10746.1	.	.	.	.	.	.	.	.	.	.	C	14.40	2.522727	0.44866	2.27E-4	1.16E-4	ENSG00000167207	ENST00000526417;ENST00000300589	T	0.65178	-0.14	5.26	5.26	0.73747	.	0.210120	0.33364	N	0.004983	T	0.70254	0.3203	L	0.41236	1.265	0.20764	N	0.999851	D;D;D	0.71674	0.996;0.983;0.998	P;P;D	0.62955	0.85;0.662;0.909	T	0.64668	-0.6353	10	0.56958	D	0.05	.	16.3666	0.83331	0.0:1.0:0.0:0.0	rs2076754;rs2076754	216;405;432	D6CHF9;Q9HC29-2;Q9HC29	.;.;NOD2_HUMAN	V	405;432	ENSP00000300589:A432V	ENSP00000300589:A432V	A	+	2	0	NOD2	49302618	0.589000	0.26807	0.066000	0.19879	0.009000	0.06853	2.478000	0.45189	2.466000	0.83321	0.561000	0.74099	GCG		0.612	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256876.2		NM_022162	
PAIP1	10605	broad.mit.edu;hgsc.bcm.edu	37	5	43543190	43543190	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr5:43543190A>T	ENST00000306846.3	-	4	882	c.650T>A	c.(649-651)aTg>aAg	p.M217K	PAIP1_ENST00000338972.4_Missense_Mutation_p.M105K|PAIP1_ENST00000436644.2_Missense_Mutation_p.M138K|PAIP1_ENST00000514514.1_Missense_Mutation_p.M138K	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	217	MIF4G.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)	p.M217K(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					GCGAGCTCCCATATAAGAGAA	0.373																																																	1	Substitution - Missense(1)	kidney(1)											69.0	72.0	71.0					5																	43543190		2203	4300	6503	SO:0001583	missense	10605			AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.650T>A	5.37:g.43543190A>T	ENSP00000302768:p.Met217Lys		A6NKV8|O60455|Q96B61|Q9BS63	Missense_Mutation	SNP	ENST00000306846.3	37	CCDS3947.1	.	.	.	.	.	.	.	.	.	.	A	14.00	2.404322	0.42613	.	.	ENSG00000172239	ENST00000306846;ENST00000436644;ENST00000338972;ENST00000514514;ENST00000511321;ENST00000508537;ENST00000504075	T;T;T;T;T;T	0.24151	1.87;1.87;1.87;1.87;1.87;1.87	5.34	4.13	0.48395	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.083376	0.85682	D	0.000000	T	0.27454	0.0674	L	0.57536	1.79	0.45607	D	0.998541	P;P;B	0.39551	0.525;0.678;0.256	B;B;B	0.43536	0.277;0.423;0.099	T	0.04360	-1.0957	10	0.51188	T	0.08	-1.9476	6.288	0.21043	0.784:0.0:0.0748:0.1411	.	138;217;138	D6REB4;Q9H074;Q9H074-2	.;PAIP1_HUMAN;.	K	217;138;105;138;105;105;1	ENSP00000302768:M217K;ENSP00000387729:M138K;ENSP00000339622:M105K;ENSP00000425084:M138K;ENSP00000425675:M105K;ENSP00000425736:M105K	ENSP00000302768:M217K	M	-	2	0	PAIP1	43578947	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.652000	0.67959	2.017000	0.59298	0.477000	0.44152	ATG		0.373	PAIP1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000214024.1		NM_006451	
PELP1	27043	hgsc.bcm.edu;ucsc.edu	37	17	4577915	4577915	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr17:4577915delG	ENST00000574876.1	-	13	1489	c.1472delC	c.(1471-1473)cctfs	p.P491fs	PELP1_ENST00000436683.2_Frame_Shift_Del_p.P344fs|AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000572293.1_Frame_Shift_Del_p.P541fs|PELP1_ENST00000269230.7_Frame_Shift_Del_p.P489fs|PELP1_ENST00000301396.4_Frame_Shift_Del_p.P635fs			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	491					cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						GGGGGCGCTAGGCTTCCCAGT	0.587																																																	0													37.0	40.0	39.0					17																	4577915		1935	4138	6073	SO:0001589	frameshift_variant	27043				CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.1472delC	17.37:g.4577915delG	ENSP00000461625:p.Pro491fs		O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Frame_Shift_Del	DEL	ENST00000574876.1	37	CCDS58503.1																																																																																				0.587	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2		NM_014389	
PER1	5187	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	8048306	8048306	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr17:8048306T>A	ENST00000317276.4	-	18	2461	c.2224A>T	c.(2224-2226)Atc>Ttc	p.I742F	PER1_ENST00000578089.1_Intron|PER1_ENST00000581082.1_Missense_Mutation_p.I722F|PER1_ENST00000354903.5_Missense_Mutation_p.I726F	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	742	Required for phosphorylation by CSNK1E. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)	p.I742F(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCCATCATGATGATGTCTGAG	0.622			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																																Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	1	Substitution - Missense(1)	kidney(1)											25.0	27.0	26.0					17																	8048306		2195	4295	6490	SO:0001583	missense	5187			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.2224A>T	17.37:g.8048306T>A	ENSP00000314420:p.Ile742Phe		B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	ENST00000317276.4	37	CCDS11131.1	.	.	.	.	.	.	.	.	.	.	T	11.48	1.652218	0.29336	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.37584	2.57;1.19	5.38	-1.05	0.10036	.	0.394497	0.26460	N	0.024248	T	0.25158	0.0611	L	0.49126	1.545	0.36326	D	0.858538	B;P	0.38335	0.282;0.627	B;B	0.31245	0.126;0.105	T	0.16305	-1.0407	10	0.52906	T	0.07	-2.394	9.2899	0.37780	0.0:0.5765:0.0:0.4235	.	726;742	B4DI49;O15534	.;PER1_HUMAN	F	742;726	ENSP00000314420:I742F;ENSP00000346979:I726F	ENSP00000314420:I742F	I	-	1	0	PER1	7989031	0.996000	0.38824	0.990000	0.47175	0.997000	0.91878	0.217000	0.17603	-0.183000	0.10585	0.533000	0.62120	ATC		0.622	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441481.2			
POLRMT	5442	broad.mit.edu	37	19	632854	632854	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr19:632854delC	ENST00000588649.2	-	2	257	c.173delG	c.(172-174)ggcfs	p.G58fs		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	58					gene expression (GO:0010467)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CTCCACGTGGCCCCAGTCCTT	0.697																																																	0													13.0	13.0	13.0					19																	632854		2153	4261	6414	SO:0001589	frameshift_variant	5442				CCDS12036.1	19p13.3	2010-10-22			ENSG00000099821	ENSG00000099821	2.7.7.6		9200	protein-coding gene	gene with protein product		601778				9097968	Standard	NM_005035		Approved	h-mtRPOL, APOLMT, MTRNAP, MTRPOL	uc002lpf.1	O00411		ENST00000588649.2:c.173delG	19.37:g.632854delC	ENSP00000465759:p.Gly58fs		O60370	Frame_Shift_Del	DEL	ENST00000588649.2	37	CCDS12036.1																																																																																				0.697	POLRMT-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452172.3		NM_005035	
PRKD2	25865	hgsc.bcm.edu;ucsc.edu	37	19	47177890	47177899	+	Frame_Shift_Del	DEL	CTGCTGCAAA	CTGCTGCAAA	-			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	CTGCTGCAAA	CTGCTGCAAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr19:47177890_47177899delCTGCTGCAAA	ENST00000291281.4	-	18	2743_2752	c.2518_2527delTTTGCAGCAG	c.(2518-2529)tttgcagcagagfs	p.FAAE840fs	PRKD2_ENST00000433867.1_Frame_Shift_Del_p.FAAE840fs|DACT3-AS1_ENST00000525352.1_RNA|PRKD2_ENST00000595515.1_Frame_Shift_Del_p.FAAE850fs|DACT3-AS1_ENST00000525008.1_RNA|PRKD2_ENST00000600194.1_Frame_Shift_Del_p.FAAE683fs|PRKD2_ENST00000601806.1_Frame_Shift_Del_p.FAAE683fs			Q9BZL6	KPCD2_HUMAN	protein kinase D2	840					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		AGCGGATGCTCTGCTGCAAACTGCTCCCAG	0.652																																																	0																																										SO:0001589	frameshift_variant	25865			AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.2518_2527delTTTGCAGCAG	19.37:g.47177890_47177899delCTGCTGCAAA	ENSP00000291281:p.Phe840fs		Q8TB08|Q9P0T6|Q9Y3X8	Frame_Shift_Del	DEL	ENST00000291281.4	37	CCDS12689.1																																																																																				0.652	PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1		NM_016457	
PTPDC1	138639	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	96870182	96870183	+	Frame_Shift_Ins	INS	-	-	A			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr9:96870182_96870183insA	ENST00000375360.3	+	10	2561_2562	c.2221_2222insA	c.(2221-2223)gaafs	p.E741fs	PTPDC1_ENST00000288976.3_Frame_Shift_Ins_p.E793fs|PTPDC1_ENST00000467049.1_3'UTR	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	741					cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)		protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CACGCTGGAAGAAAAAAGAAAA	0.366																																																	0																																										SO:0001589	frameshift_variant	138639			BC051654	CCDS6707.1, CCDS6708.1, CCDS75860.1	9q22.32	2011-06-09			ENSG00000158079	ENSG00000158079		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : CDC14s"""	30184	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase PTP9Q22"""					14702039	Standard	NM_152422		Approved	PTP9Q22, FLJ37312	uc010mrj.2	A2A3K4	OTTHUMG00000020258	ENST00000375360.3:c.2227dupA	9.37:g.96870188_96870188dupA	ENSP00000364509:p.Glu741fs		Q5T3M4|Q6NXE8|Q8IWM1|Q8N1X4|Q8N9F5	Frame_Shift_Ins	INS	ENST00000375360.3	37	CCDS6707.1																																																																																				0.366	PTPDC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000215007.1		NM_177995, NM_152422	
PTPRC	5788	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	198687421	198687421	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr1:198687421delA	ENST00000367376.2	+	14	1814	c.1643delA	c.(1642-1644)tacfs	p.Y548fs	PTPRC_ENST00000348564.6_Frame_Shift_Del_p.Y389fs|PTPRC_ENST00000594404.1_Frame_Shift_Del_p.Y387fs|PTPRC_ENST00000442510.2_Frame_Shift_Del_p.Y550fs|PTPRC_ENST00000352140.3_Frame_Shift_Del_p.Y500fs	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	548	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TCAACAGACTACACTTTTAAG	0.333																																																	0													50.0	48.0	49.0					1																	198687421		2202	4300	6502	SO:0001589	frameshift_variant	5788			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.1643delA	1.37:g.198687421delA	ENSP00000356346:p.Tyr548fs		A8K7W6|Q16614|Q9H0Y6	Frame_Shift_Del	DEL	ENST00000367376.2	37																																																																																					0.333	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding				
PZP	5858	hgsc.bcm.edu	37	12	9305862	9305862	+	Silent	SNP	G	G	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr12:9305862G>T	ENST00000261336.2	-	30	3880	c.3852C>A	c.(3850-3852)gtC>gtA	p.V1284V	PZP_ENST00000381997.2_Silent_p.V1070V	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	1284					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V1070V(1)|p.V1284V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CCTGAACGGTGACCTGTGCAG	0.498																																					Melanoma(125;1402 1695 4685 34487 38571)												2	Substitution - coding silent(2)	kidney(2)											109.0	110.0	110.0					12																	9305862		2203	4300	6503	SO:0001819	synonymous_variant	5858			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.3852C>A	12.37:g.9305862G>T			A6ND27|Q15273|Q2NKL2|Q7M4N7	Silent	SNP	ENST00000261336.2	37	CCDS8600.1																																																																																				0.498	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337624.1		NM_002864	
RIMKLA	284716	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	42880262	42880262	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr1:42880262G>C	ENST00000431473.3	+	5	922	c.793G>C	c.(793-795)Gac>Cac	p.D265H		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	265	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.				cellular protein modification process (GO:0006464)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|N-acetyl-L-aspartate-L-glutamate ligase activity (GO:0072590)	p.D224H(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CCTTATCATGGACGATGGCTC	0.502																																																	1	Substitution - Missense(1)	kidney(1)											351.0	308.0	323.0					1																	42880262		2203	4300	6503	SO:0001583	missense	284716			BC039737	CCDS466.2	1p34.2	2011-09-21	2008-10-13	2008-10-13	ENSG00000177181	ENSG00000177181	6.3.2.N6		28725	protein-coding gene	gene with protein product	"""N-acetylaspartylglutamate synthetase II"""		"""family with sequence similarity 80, member A"""	FAM80A		20657015, 21454531	Standard	NM_173642		Approved	MGC47816, RP11-157D18.1, NAAGS-II	uc001chi.2	Q8IXN7	OTTHUMG00000007335	ENST00000431473.3:c.793G>C	1.37:g.42880262G>C	ENSP00000414330:p.Asp265His		Q5VUS5	Missense_Mutation	SNP	ENST00000431473.3	37	CCDS466.2	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135735	0.56828	.	.	ENSG00000177181	ENST00000431473	.	.	.	5.22	5.22	0.72569	ATP-grasp fold (1);ATP-grasp fold, RimK-type (1);ATP-grasp fold, subdomain 2 (1);	0.047706	0.85682	D	0.000000	T	0.77491	0.4138	M	0.70108	2.13	0.43988	D	0.99668	D	0.61080	0.989	D	0.67382	0.951	T	0.80016	-0.1559	9	0.72032	D	0.01	-1.394	16.2864	0.82724	0.0:0.0:1.0:0.0	.	265	Q8IXN7	RIMKA_HUMAN	H	265	.	ENSP00000414330:D265H	D	+	1	0	RIMKLA	42652849	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.916000	0.69981	2.442000	0.82660	0.555000	0.69702	GAC		0.502	RIMKLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019174.3		NM_173642	
RABGAP1L	9910	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	174245014	174245014	+	Missense_Mutation	SNP	C	C	T	rs533934955		TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr1:174245014C>T	ENST00000251507.4	+	9	1271	c.1097C>T	c.(1096-1098)aCt>aTt	p.T366I	RABGAP1L_ENST00000367689.3_Missense_Mutation_p.T13I|RABGAP1L_ENST00000357444.6_Missense_Mutation_p.T329I	NM_014857.4	NP_055672.3	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0								p.T366I(1)		NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						TATGTCATCACTGGCATGTGG	0.363																																																	1	Substitution - Missense(1)	kidney(1)											104.0	104.0	104.0					1																	174245014		2203	4300	6503	SO:0001583	missense	9910			AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000251507.4:c.1097C>T	1.37:g.174245014C>T	ENSP00000251507:p.Thr366Ile		B7ZAA4	Missense_Mutation	SNP	ENST00000251507.4	37	CCDS1314.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826935	0.90955	.	.	ENSG00000152061	ENST00000357444;ENST00000367689;ENST00000251507;ENST00000457696;ENST00000367692	T;T;T	0.46819	0.86;3.47;0.88	5.37	5.37	0.77165	.	0.050900	0.85682	N	0.000000	T	0.64549	0.2608	L	0.46741	1.465	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;0.993;0.993;1.0	D;D;D;D;D	0.91635	0.999;0.998;0.968;0.968;0.998	T	0.64639	-0.6360	10	0.54805	T	0.06	.	19.1063	0.93296	0.0:1.0:0.0:0.0	.	378;13;366;366;329	B7WPG6;Q5JZA9;F1LJ00;Q5R372;Q5R372-2	.;.;.;RBG1L_HUMAN;.	I	329;13;366;378;378	ENSP00000350027:T329I;ENSP00000251507:T366I;ENSP00000403136:T378I	ENSP00000251507:T366I	T	+	2	0	RABGAP1L	172511637	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	7.336000	0.79245	2.528000	0.85240	0.551000	0.68910	ACT		0.363	RABGAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084497.1		NM_001243765	
RINL	126432	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	39361507	39361507	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr19:39361507C>T	ENST00000591812.1	-	8	813	c.727G>A	c.(727-729)Gag>Aag	p.E243K	RINL_ENST00000340740.3_Missense_Mutation_p.E129K|RINL_ENST00000598904.1_Missense_Mutation_p.E129K|RINL_ENST00000602238.1_5'Flank|CTC-360G5.6_ENST00000593830.1_RNA			Q6ZS11	RINL_HUMAN	Ras and Rab interactor-like	243	Glu-rich.				endocytosis (GO:0006897)|positive regulation of GTPase activity (GO:0043547)|protein transport (GO:0015031)	actin cytoskeleton (GO:0015629)|cytoplasmic vesicle (GO:0031410)|ruffle (GO:0001726)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)	p.E129K(1)		endometrium(3)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|urinary_tract(2)	17						CTTCCTTCCTCCTTTCCTTCA	0.632																																																	1	Substitution - Missense(1)	kidney(1)											75.0	73.0	74.0					19																	39361507		2203	4299	6502	SO:0001583	missense	126432			AK127808	CCDS12522.1, CCDS59386.1	19q13.2	2010-07-13			ENSG00000187994	ENSG00000187994			24795	protein-coding gene	gene with protein product							Standard	NM_001195833		Approved	FLJ45909	uc010xuo.2	Q6ZS11		ENST00000591812.1:c.727G>A	19.37:g.39361507C>T	ENSP00000467107:p.Glu243Lys		B4DPG5	Missense_Mutation	SNP	ENST00000591812.1	37	CCDS59386.1	.	.	.	.	.	.	.	.	.	.	C	14.29	2.492300	0.44352	.	.	ENSG00000187994	ENST00000340740;ENST00000536520	T	0.44482	0.92	4.63	1.29	0.21616	.	1.111770	0.06780	N	0.785107	T	0.20577	0.0495	N	0.19112	0.55	0.09310	N	1	B;B	0.33694	0.421;0.281	B;B	0.22386	0.039;0.027	T	0.13442	-1.0509	10	0.10111	T	0.7	-7.303	4.6242	0.12470	0.0:0.6201:0.1808:0.199	.	243;129	B4DPG5;Q6ZS11	.;RINL_HUMAN	K	129	ENSP00000340369:E129K	ENSP00000340369:E129K	E	-	1	0	RINL	44053347	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.640000	0.05440	0.185000	0.20105	-0.479000	0.04858	GAG		0.632	RINL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460433.1		NM_198445	
RNASE8	122665	broad.mit.edu;ucsc.edu	37	14	21526326	21526326	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr14:21526326G>T	ENST00000308227.2	+	1	346	c.275G>T	c.(274-276)aGc>aTc	p.S92I	NDRG2_ENST00000403829.3_Intron	NM_138331.1	NP_612204.1	Q8TDE3	RNAS8_HUMAN	ribonuclease, RNase A family, 8	92					RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)|pancreatic ribonuclease activity (GO:0004522)	p.S92I(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0188)		TGCAAGAATAGCTGTAAAAAC	0.552																																																	1	Substitution - Missense(1)	kidney(1)											140.0	127.0	131.0					14																	21526326		2203	4300	6503	SO:0001583	missense	122665			AF473854	CCDS9567.1	14q11.1	2003-03-13			ENSG00000173431	ENSG00000173431		"""Ribonucleases, RNase A"""	19277	protein-coding gene	gene with protein product		612485				11861908	Standard	NM_138331		Approved		uc010tlm.2	Q8TDE3	OTTHUMG00000029645	ENST00000308227.2:c.275G>T	14.37:g.21526326G>T	ENSP00000311398:p.Ser92Ile		B2RPP6|B2RPP7	Missense_Mutation	SNP	ENST00000308227.2	37	CCDS9567.1	.	.	.	.	.	.	.	.	.	.	G	9.806	1.181896	0.21787	.	.	ENSG00000173431	ENST00000308227	T	0.15017	2.46	4.61	1.67	0.24075	Ribonuclease A, domain (4);	2.121860	0.02047	N	0.049746	T	0.20129	0.0484	N	0.24115	0.695	0.09310	N	1	B	0.23854	0.092	B	0.40038	0.317	T	0.45071	-0.9286	10	0.87932	D	0	-2.2107	6.4566	0.21934	0.3275:0.0:0.6725:0.0	.	92	Q8TDE3	RNAS8_HUMAN	I	92	ENSP00000311398:S92I	ENSP00000311398:S92I	S	+	2	0	RNASE8	20596166	0.002000	0.14202	0.000000	0.03702	0.006000	0.05464	1.139000	0.31504	0.233000	0.21120	0.655000	0.94253	AGC		0.552	RNASE8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073925.3		NM_138331	
RPL5	6125	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	93299160	93299160	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr1:93299160C>A	ENST00000370321.3	+	3	222	c.132C>A	c.(130-132)taC>taA	p.Y44*		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	44					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	5S rRNA binding (GO:0008097)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)	p.Y44*(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		AAAATAAATACAACACACCCA	0.343																																																	1	Substitution - Nonsense(1)	kidney(1)											60.0	64.0	62.0					1																	93299160		2203	4300	6503	SO:0001587	stop_gained	6125			U14966	CCDS741.1	1p22.1	2014-06-13			ENSG00000122406	ENSG00000122406		"""L ribosomal proteins"""	10360	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 135"""	603634				7937132, 7772601	Standard	NM_000969		Approved	L5, PPP1R135	uc001doz.3	P46777	OTTHUMG00000010899	ENST00000370321.3:c.132C>A	1.37:g.93299160C>A	ENSP00000359345:p.Tyr44*		Q32LZ3|Q53HH6|Q9H3F4	Nonsense_Mutation	SNP	ENST00000370321.3	37	CCDS741.1	.	.	.	.	.	.	.	.	.	.	C	32	5.114816	0.94339	.	.	ENSG00000122406	ENST00000370321	.	.	.	4.69	3.55	0.40652	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.673	0.62436	0.0:0.9105:0.0:0.0895	.	.	.	.	X	44	.	ENSP00000359345:Y44X	Y	+	3	2	RPL5	93071748	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.088000	0.41663	2.141000	0.66446	0.561000	0.74099	TAC		0.343	RPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030058.2		NM_000969	
RXRG	6258	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	165386398	165386398	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr1:165386398T>C	ENST00000359842.5	-	4	804	c.502A>G	c.(502-504)Agg>Ggg	p.R168G	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	168					gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R168G(1)		endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	AGGTCCTTCCTTATCGTCCTC	0.468																																																	1	Substitution - Missense(1)	kidney(1)											196.0	172.0	180.0					1																	165386398		2203	4300	6503	SO:0001583	missense	6258			U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.502A>G	1.37:g.165386398T>C	ENSP00000352900:p.Arg168Gly		A6NIP1|Q6IBU7	Missense_Mutation	SNP	ENST00000359842.5	37	CCDS1248.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.505987	0.64410	.	.	ENSG00000143171	ENST00000359842	D	0.97378	-4.36	4.96	-0.394	0.12434	Zinc finger, NHR/GATA-type (1);Zinc finger, nuclear hormone receptor-type (4);	0.049190	0.85682	N	0.000000	D	0.97823	0.9285	M	0.85542	2.76	0.80722	D	1.000000	D	0.76494	0.999	D	0.81914	0.995	D	0.98183	1.0458	9	0.87932	D	0	.	15.0317	0.71713	0.0:0.0:0.6311:0.3689	.	168	P48443	RXRG_HUMAN	G	168	ENSP00000352900:R168G	ENSP00000352900:R168G	R	-	1	2	RXRG	163653022	0.887000	0.30362	0.607000	0.28956	0.969000	0.65631	0.299000	0.19138	-0.236000	0.09753	0.533000	0.62120	AGG		0.468	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083794.2		NM_006917	
SEC24A	10802	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	133996855	133996855	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr5:133996855A>C	ENST00000398844.2	+	2	432	c.144A>C	c.(142-144)caA>caC	p.Q48H	SEC24A_ENST00000322887.4_Missense_Mutation_p.Q48H	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	48					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of protein secretion (GO:0050714)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)	p.Q48Q(1)|p.Q48H(1)		NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGTGAGCCAAGGATACAATT	0.418																																																	2	Substitution - Missense(1)|Substitution - coding silent(1)	lung(1)|kidney(1)											256.0	249.0	251.0					5																	133996855		1917	4127	6044	SO:0001583	missense	10802			AJ131244	CCDS43363.1, CCDS58967.1	5q31.1	2013-10-21	2013-10-21		ENSG00000113615	ENSG00000113615			10703	protein-coding gene	gene with protein product		607183	"""SEC24 (S. cerevisiae) related gene family, member A"", ""SEC24 family, member A (S. cerevisiae)"""			10075675, 10329445	Standard	NM_021982		Approved		uc003kzs.3	O95486	OTTHUMG00000163064	ENST00000398844.2:c.144A>C	5.37:g.133996855A>C	ENSP00000381823:p.Gln48His		A8MVW3|Q8WUV2|Q96GP7	Missense_Mutation	SNP	ENST00000398844.2	37	CCDS43363.1	.	.	.	.	.	.	.	.	.	.	A	19.96	3.924305	0.73213	.	.	ENSG00000113615	ENST00000398844;ENST00000322887	D;D	0.97089	-4.24;-4.24	5.78	5.78	0.91487	.	2.767080	0.00870	N	0.002014	D	0.96269	0.8783	L	0.34521	1.04	0.43399	D	0.99552	P	0.37955	0.612	B	0.43575	0.424	D	0.84365	0.0540	10	0.59425	D	0.04	4.7955	11.9951	0.53196	0.9307:0.0:0.0693:0.0	.	48	O95486	SC24A_HUMAN	H	48	ENSP00000381823:Q48H;ENSP00000321749:Q48H	ENSP00000321749:Q48H	Q	+	3	2	SEC24A	134024754	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	2.349000	0.44054	2.205000	0.71048	0.533000	0.62120	CAA		0.418	SEC24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371563.1			
SEZ6	124925	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	27308944	27308944	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr17:27308944A>C	ENST00000317338.12	-	2	597	c.169T>G	c.(169-171)Ttt>Gtt	p.F57V	SEZ6_ENST00000360295.9_Missense_Mutation_p.F57V|PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Missense_Mutation_p.F57V|SEZ6_ENST00000442608.3_Missense_Mutation_p.F57V			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	57					adult locomotory behavior (GO:0008344)|cerebellar Purkinje cell layer development (GO:0021680)|negative regulation of dendrite development (GO:2000171)|positive regulation of dendrite development (GO:1900006)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of protein kinase C signaling (GO:0090036)|synapse maturation (GO:0060074)	apical dendrite (GO:0097440)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)		p.F57V(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GTTGTGACAAAGTGGACGCCT	0.612																																																	1	Substitution - Missense(1)	kidney(1)											45.0	50.0	49.0					17																	27308944		2121	4246	6367	SO:0001583	missense	124925			AY038048	CCDS45638.1, CCDS45639.1	17q11.2	2008-03-06	2001-11-28		ENSG00000063015	ENSG00000063015			15955	protein-coding gene	gene with protein product			"""seizure related gene 6 (mouse) homolog"""			17086543	Standard	NM_178860		Approved		uc002hdp.2	Q53EL9	OTTHUMG00000168010	ENST00000317338.12:c.169T>G	17.37:g.27308944A>C	ENSP00000312942:p.Phe57Val		B6ZDN1|Q8N701|Q8NB57|Q8ND50|Q8TD25|Q96NI5|Q96NQ3	Missense_Mutation	SNP	ENST00000317338.12	37	CCDS45639.1	.	.	.	.	.	.	.	.	.	.	A	17.61	3.432263	0.62844	.	.	ENSG00000063015	ENST00000442608;ENST00000360295;ENST00000335960;ENST00000541381	T;T;T	0.43688	1.02;0.94;1.78	4.98	4.98	0.66077	.	0.000000	0.40222	U	0.001158	T	0.50531	0.1621	L	0.34521	1.04	0.38766	D	0.954446	D;D;D	0.67145	0.996;0.996;0.993	D;D;D	0.75484	0.986;0.986;0.968	T	0.49881	-0.8892	10	0.29301	T	0.29	.	12.6183	0.56590	1.0:0.0:0.0:0.0	.	57;57;57	F5GZF9;Q53EL9-3;Q53EL9	.;.;SEZ6_HUMAN	V	57	ENSP00000403784:F57V;ENSP00000353440:F57V;ENSP00000337407:F57V	ENSP00000337407:F57V	F	-	1	0	SEZ6	24333070	1.000000	0.71417	1.000000	0.80357	0.534000	0.34807	3.587000	0.53957	1.880000	0.54463	0.379000	0.24179	TTT		0.612	SEZ6-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397475.3			
SLC12A4	6560	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	67979424	67979424	+	Silent	SNP	C	C	A			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr16:67979424C>A	ENST00000316341.3	-	22	3020	c.2880G>T	c.(2878-2880)ctG>ctT	p.L960L	SLC12A4_ENST00000572037.1_Silent_p.L912L|SLC12A4_ENST00000576616.1_Silent_p.L960L|SLC12A4_ENST00000338335.3_3'UTR|CTC-479C5.17_ENST00000590594.1_lincRNA|SLC12A4_ENST00000422611.2_Silent_p.L962L|LCAT_ENST00000264005.5_5'Flank|SLC12A4_ENST00000537830.2_Silent_p.L954L|SLC12A4_ENST00000541864.2_Silent_p.L929L	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	960					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)	p.L960L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCTCCAGCCGCAGGGCCGAGT	0.587																																																	1	Substitution - coding silent(1)	kidney(1)											60.0	61.0	60.0					16																	67979424		2197	4300	6497	SO:0001819	synonymous_variant	6560				CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.2880G>T	16.37:g.67979424C>A			B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Silent	SNP	ENST00000316341.3	37	CCDS10855.1																																																																																				0.587	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4		NM_005072	
SLC7A14	57709	broad.mit.edu;hgsc.bcm.edu	37	3	170244556	170244556	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr3:170244556T>C	ENST00000231706.5	-	2	485	c.170A>G	c.(169-171)gAc>gGc	p.D57G	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	57					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.D57G(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AGAGATGAGGTCCACTGTGGT	0.572																																																	1	Substitution - Missense(1)	kidney(1)											263.0	197.0	219.0					3																	170244556		2203	4300	6503	SO:0001583	missense	57709			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.170A>G	3.37:g.170244556T>C	ENSP00000231706:p.Asp57Gly		B3KV33|Q9HCF9	Missense_Mutation	SNP	ENST00000231706.5	37	CCDS33892.1	.	.	.	.	.	.	.	.	.	.	T	25.1	4.599534	0.87055	.	.	ENSG00000013293	ENST00000231706	D	0.89343	-2.5	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	D	0.94915	0.8356	M	0.87758	2.905	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.95758	0.8798	10	0.87932	D	0	.	14.9837	0.71330	0.0:0.0:0.0:1.0	.	57	Q8TBB6	S7A14_HUMAN	G	57	ENSP00000231706:D57G	ENSP00000231706:D57G	D	-	2	0	SLC7A14	171727250	1.000000	0.71417	0.995000	0.50966	0.970000	0.65996	7.881000	0.87252	1.994000	0.58287	0.459000	0.35465	GAC		0.572	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352598.2		NM_020949	
SLITRK4	139065	hgsc.bcm.edu	37	X	142717055	142717058	+	Frame_Shift_Del	DEL	TACT	TACT	-			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	TACT	TACT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chrX:142717055_142717058delTACT	ENST00000381779.4	-	2	2092_2095	c.1867_1870delAGTA	c.(1867-1872)agtatcfs	p.SI623fs	SLITRK4_ENST00000338017.4_Frame_Shift_Del_p.SI623fs|SLITRK4_ENST00000356928.1_Frame_Shift_Del_p.SI623fs	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	623						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					ACCACTAAGATACTTAAGATTAAA	0.48																																																	0																																										SO:0001589	frameshift_variant	139065			BC040986	CCDS14679.1	Xq27.3	2004-06-23			ENSG00000179542	ENSG00000179542			23502	protein-coding gene	gene with protein product		300562				14557068	Standard	NM_001184749		Approved	DKFZp547M2010	uc004fby.3	Q8IW52	OTTHUMG00000022580	ENST00000381779.4:c.1867_1870delAGTA	X.37:g.142717055_142717058delTACT	ENSP00000371198:p.Ser623fs		Q5JXG3|Q8TCM8|Q96DL3	Frame_Shift_Del	DEL	ENST00000381779.4	37	CCDS14679.1																																																																																				0.480	SLITRK4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058617.1		NM_173078	
SOS1	6654	broad.mit.edu;hgsc.bcm.edu	37	2	39222302	39222302	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr2:39222302C>T	ENST00000426016.1	-	21	3394	c.3308G>A	c.(3307-3309)aGt>aAt	p.S1103N	SOS1_ENST00000395038.2_Missense_Mutation_p.S1103N|SOS1-IT1_ENST00000594472.1_RNA|SOS1_ENST00000402219.2_Missense_Mutation_p.S1103N			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	1103					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|Ras protein signal transduction (GO:0007265)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	DNA binding (GO:0003677)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.S1103N(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				ATCAAATACACTGCAAACATC	0.413									Noonan syndrome																																								1	Substitution - Missense(1)	kidney(1)											126.0	112.0	117.0					2																	39222302		2203	4300	6503	SO:0001583	missense	6654	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	L13857	CCDS1802.1	2p21	2014-09-17	2002-11-05		ENSG00000115904	ENSG00000115904		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11187	protein-coding gene	gene with protein product		182530	"""gingival fibromatosis, hereditary, 1"""	GINGF		8276400, 10995566	Standard	NM_005633		Approved	HGF, GF1	uc002rrk.4	Q07889	OTTHUMG00000102109	ENST00000426016.1:c.3308G>A	2.37:g.39222302C>T	ENSP00000387784:p.Ser1103Asn		A8K2G3|B4DXG2	Missense_Mutation	SNP	ENST00000426016.1	37	CCDS1802.1	.	.	.	.	.	.	.	.	.	.	C	22.4	4.287309	0.80803	.	.	ENSG00000115904	ENST00000426016;ENST00000402219;ENST00000543698;ENST00000395038	T;T;T	0.79845	-1.06;-1.06;-1.31	5.91	5.91	0.95273	.	0.204735	0.53938	D	0.000050	D	0.86560	0.5962	L	0.50333	1.59	0.80722	D	1	D	0.57899	0.981	D	0.67900	0.954	T	0.81154	-0.1062	10	0.18276	T	0.48	.	20.2963	0.98556	0.0:1.0:0.0:0.0	.	1103	Q07889	SOS1_HUMAN	N	1103;1103;835;1103	ENSP00000387784:S1103N;ENSP00000384675:S1103N;ENSP00000378479:S1103N	ENSP00000378479:S1103N	S	-	2	0	SOS1	39075806	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.361000	0.66092	2.813000	0.96785	0.655000	0.94253	AGT		0.413	SOS1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219948.3		NM_005633	
SPDEF	25803	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	34506194	34506194	+	Missense_Mutation	SNP	G	G	A	rs148079586		TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr6:34506194G>A	ENST00000374037.3	-	6	1279	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W	SPDEF_ENST00000544425.1_Missense_Mutation_p.R273W	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	289					cell differentiation (GO:0030154)|intestinal epithelial cell development (GO:0060576)|lung goblet cell differentiation (GO:0060480)|multicellular organismal development (GO:0007275)|negative regulation of cell fate commitment (GO:0010454)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell fate commitment (GO:0010455)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.R289W(1)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CCCCACAGCCGGGCCACCTGG	0.582																																																	1	Substitution - Missense(1)	kidney(1)						G	TRP/ARG	0,4406		0,0,2203	98.0	101.0	100.0		865	4.7	1.0	6	dbSNP_134	100	1,8599	1.2+/-3.3	0,1,4299	no	missense	SPDEF	NM_012391.1	101	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	289/336	34506194	1,13005	2203	4300	6503	SO:0001583	missense	25803			AF071538	CCDS4794.1, CCDS59013.1	6p21.3	2013-08-07	2013-08-07		ENSG00000124664	ENSG00000124664			17257	protein-coding gene	gene with protein product		608144	"""SAM pointed domain containing ets transcription factor"""			10625666, 6857767	Standard	NM_012391		Approved	PDEF, bA375E1.3	uc003ojq.2	O95238	OTTHUMG00000014548	ENST00000374037.3:c.865C>T	6.37:g.34506194G>A	ENSP00000363149:p.Arg289Trp		B4DWH8|F5H778	Missense_Mutation	SNP	ENST00000374037.3	37	CCDS4794.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588852	0.86851	0.0	1.16E-4	ENSG00000124664	ENST00000374037;ENST00000544425	T;T	0.29397	1.57;1.57	5.55	4.68	0.58851	Winged helix-turn-helix transcription repressor DNA-binding (1);Ets (4);	0.057709	0.64402	N	0.000002	T	0.51958	0.1705	M	0.87900	2.915	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.63786	-0.6558	10	0.87932	D	0	.	14.2349	0.65919	0.0716:0.0:0.9283:0.0	.	273;289	F5H778;O95238	.;SPDEF_HUMAN	W	289;273	ENSP00000363149:R289W;ENSP00000442715:R273W	ENSP00000363149:R289W	R	-	1	2	SPDEF	34614172	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.123000	0.64703	1.348000	0.45733	0.655000	0.94253	CGG		0.582	SPDEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040246.1		NM_012391	
SPECC1	92521	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	20130773	20130773	+	Silent	SNP	C	C	T	rs373578290		TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr17:20130773C>T	ENST00000261503.5	+	5	1962	c.1911C>T	c.(1909-1911)gcC>gcT	p.A637A	SPECC1_ENST00000395525.3_Silent_p.A556A|SPECC1_ENST00000395522.2_Silent_p.A556A|SPECC1_ENST00000395527.4_Silent_p.A637A|SPECC1_ENST00000536879.1_5'UTR|SPECC1_ENST00000472876.1_3'UTR|SPECC1_ENST00000395529.3_Silent_p.A637A|AC004702.2_ENST00000580225.1_lincRNA|SPECC1_ENST00000584527.1_Silent_p.A55A|SPECC1_ENST00000395530.2_Silent_p.A556A	NM_001033553.2	NP_001028725.1	Q5M775	CYTSB_HUMAN	sperm antigen with calponin homology and coiled-coil domains 1	637					cell adhesion (GO:0007155)	nucleus (GO:0005634)		p.A637A(1)		breast(1)|large_intestine(3)|ovary(4)	8				KIRC - Kidney renal clear cell carcinoma(2;0.166)|Kidney(2;0.196)		ATCACCAAGCCGAACAGCTGA	0.393																																																	1	Substitution - coding silent(1)	kidney(1)						C	,,,	0,4406		0,0,2203	57.0	53.0	54.0		1911,1668,1668,1911	-0.2	1.0	17		54	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	SPECC1	NM_001033553.2,NM_001033554.2,NM_001033555.2,NM_152904.4	,,,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,,,	637/1069,556/710,556/988,637/791	20130773	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	92521			AY816329, AB041533	CCDS32590.1, CCDS42280.1, CCDS42281.1, CCDS45628.1, CCDS58531.1	17p11.2	2012-11-19	2010-09-17	2010-09-17	ENSG00000128487	ENSG00000128487			30615	protein-coding gene	gene with protein product	"""sperm antigen HCMOGT 1"", ""cytokinesis and spindle organization B"", ""cytospin B"""	608793				15602574, 18763323, 15087372	Standard	NM_001033553		Approved	HCMOGT-1, FLJ36955, NSP, CYTSB	uc002gwq.3	Q5M775	OTTHUMG00000179808	ENST00000261503.5:c.1911C>T	17.37:g.20130773C>T			B4DHH0|B7WNS8|Q5IBP1|Q5IBP2|Q5IBP3|Q5IBP4|Q5M772|Q5M773|Q5M774|Q86XT8|Q8N4U4|Q8WU84|Q9HCQ3	Silent	SNP	ENST00000261503.5	37	CCDS32590.1																																																																																				0.393	SPECC1-018	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441206.1		NM_152904	
SPSB3	90864	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	1828480	1828480	+	Missense_Mutation	SNP	G	G	A	rs150535227		TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr16:1828480G>A	ENST00000566339.1	-	3	590	c.260C>T	c.(259-261)tCg>tTg	p.S87L	SPSB3_ENST00000301717.4_Missense_Mutation_p.S87L	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	87	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)			p.S87L(1)		endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						CCGGTGGGCCGAGTGCAGGCT	0.711																																																	1	Substitution - Missense(1)	kidney(1)						G	LEU/SER	2,4388	4.2+/-10.8	0,2,2193	28.0	31.0	30.0		260	1.9	0.0	16	dbSNP_134	30	0,8588		0,0,4294	no	missense	SPSB3	NM_080861.3	145	0,2,6487	AA,AG,GG		0.0,0.0456,0.0154	benign	87/356	1828480	2,12976	2195	4294	6489	SO:0001583	missense	90864				CCDS32365.1	16p13.3	2008-02-05				ENSG00000162032			30629	protein-coding gene	gene with protein product		611659	"""chromosome 16 open reading frame 31"""	C16orf31		12076535	Standard	NM_080861		Approved	SSB-3	uc002cmu.3	Q6PJ21		ENST00000566339.1:c.260C>T	16.37:g.1828480G>A	ENSP00000457206:p.Ser87Leu		D3DU78|Q49A96|Q86X18|Q8WXK5|Q96IE6|Q96RY2	Missense_Mutation	SNP	ENST00000566339.1	37	CCDS32365.1	.	.	.	.	.	.	.	.	.	.	G	8.253	0.809366	0.16537	4.56E-4	0.0	ENSG00000162032	ENST00000301717	T	0.44482	0.92	4.97	1.92	0.25849	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);	0.938648	0.09039	N	0.857581	T	0.17704	0.0425	N	0.08118	0	0.09310	N	1	P;B	0.36354	0.549;0.013	B;B	0.21917	0.037;0.002	T	0.10894	-1.0610	10	0.25751	T	0.34	-21.9238	6.9223	0.24395	0.1686:0.1611:0.6703:0.0	.	142;87	B7Z7H9;Q6PJ21	.;SPSB3_HUMAN	L	87	ENSP00000301717:S87L	ENSP00000301717:S87L	S	-	2	0	SPSB3	1768481	0.025000	0.19082	0.000000	0.03702	0.014000	0.08584	2.097000	0.41748	0.145000	0.18977	0.561000	0.74099	TCG		0.711	SPSB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000433512.1		NM_080861	
SRSF6	6431	broad.mit.edu;hgsc.bcm.edu	37	20	42087921	42087921	+	Intron	SNP	A	A	G			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr20:42087921A>G	ENST00000244020.3	+	3	362					NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6						alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						GGAAGCCATGACGACAGCAGC	0.493																																																	0													144.0	131.0	135.0					20																	42087921		876	1991	2867	SO:0001627	intron_variant	6431			U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10788	protein-coding gene	gene with protein product	"""pre-mRNA splicing factor SRP55"", ""SR splicing factor 6"""	601944	"""splicing factor, arginine/serine-rich 6"""	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.257-490A>G	20.37:g.42087921A>G			B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	RNA	SNP	ENST00000244020.3	37	CCDS13318.1																																																																																				0.493	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079292.1		NM_006275	
ST5	6764	broad.mit.edu	37	11	8752274	8752274	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr11:8752274C>A	ENST00000534127.1	-	6	948	c.563G>T	c.(562-564)cGg>cTg	p.R188L	ST5_ENST00000357665.1_Missense_Mutation_p.R188L|ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.R188L	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	188					positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of Rab GTPase activity (GO:0032851)		Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.R188L(1)		NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		AGAGCCCTCCCGCTTCTCTCC	0.662																																																	1	Substitution - Missense(1)	kidney(1)											19.0	19.0	19.0					11																	8752274		2187	4270	6457	SO:0001583	missense	6764			U15131	CCDS7791.1, CCDS7792.1	11p15	2012-10-04				ENSG00000166444		"""DENN/MADD domain containing"""	11350	protein-coding gene	gene with protein product	"""DENN/MADD domain containing 2B"""	140750				1390339	Standard	NM_005418		Approved	HTS1, DENND2B, p126	uc001mgt.3	P78524		ENST00000534127.1:c.563G>T	11.37:g.8752274C>A	ENSP00000433528:p.Arg188Leu		B2R6X7|B3KXQ6|P78523|Q16492|Q7KYY2|Q7KZ12|Q8NE12|Q9BQQ6	Missense_Mutation	SNP	ENST00000534127.1	37	CCDS7791.1	.	.	.	.	.	.	.	.	.	.	C	14.72	2.618681	0.46736	.	.	ENSG00000166444	ENST00000534127;ENST00000313726;ENST00000357665	T;T;T	0.22945	1.93;1.93;1.93	6.03	4.13	0.48395	.	0.490954	0.22425	N	0.060237	T	0.22627	0.0546	L	0.43152	1.355	0.51012	D	0.999908	B	0.06786	0.001	B	0.09377	0.004	T	0.02661	-1.1127	10	0.25751	T	0.34	-3.0295	13.4537	0.61187	0.126:0.7531:0.1209:0.0	.	188	P78524	ST5_HUMAN	L	188	ENSP00000433528:R188L;ENSP00000319678:R188L;ENSP00000350294:R188L	ENSP00000319678:R188L	R	-	2	0	ST5	8708850	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	4.252000	0.58785	0.849000	0.35215	-0.150000	0.13652	CGG		0.662	ST5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386518.1		NM_005418	
STAT5B	6777	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	40359718	40359718	+	Silent	SNP	A	A	G			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr17:40359718A>G	ENST00000293328.3	-	16	2103	c.1935T>C	c.(1933-1935)ccT>ccC	p.P645P		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	645	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				2-oxoglutarate metabolic process (GO:0006103)|acute-phase response (GO:0006953)|allantoin metabolic process (GO:0000255)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hormone stimulus (GO:0032870)|citrate metabolic process (GO:0006101)|creatine metabolic process (GO:0006600)|creatinine metabolic process (GO:0046449)|development of secondary female sexual characteristics (GO:0046543)|development of secondary male sexual characteristics (GO:0046544)|fatty acid metabolic process (GO:0006631)|female pregnancy (GO:0007565)|isoleucine metabolic process (GO:0006549)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|lipid storage (GO:0019915)|liver development (GO:0001889)|luteinization (GO:0001553)|natural killer cell differentiation (GO:0001779)|negative regulation of apoptotic process (GO:0043066)|negative regulation of erythrocyte differentiation (GO:0045647)|oxaloacetate metabolic process (GO:0006107)|Peyer's patch development (GO:0048541)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of cellular component movement (GO:0051272)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone metabolic process (GO:0042448)|prolactin signaling pathway (GO:0038161)|regulation of cell adhesion (GO:0030155)|regulation of epithelial cell differentiation (GO:0030856)|regulation of multicellular organism growth (GO:0040014)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to hypoxia (GO:0001666)|response to interleukin-15 (GO:0070672)|response to interleukin-2 (GO:0070669)|response to interleukin-4 (GO:0070670)|response to lipopolysaccharide (GO:0032496)|succinate metabolic process (GO:0006105)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|taurine metabolic process (GO:0019530)|transcription from RNA polymerase II promoter (GO:0006366)|valine metabolic process (GO:0006573)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|glucocorticoid receptor binding (GO:0035259)|protein dimerization activity (GO:0046983)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)	p.P645P(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TGGTGGTAAAAGGCATCAGAT	0.393																																																	1	Substitution - coding silent(1)	kidney(1)											103.0	102.0	103.0					17																	40359718		2203	4300	6503	SO:0001819	synonymous_variant	6777			BC065227	CCDS11423.1	17q11.2	2014-09-17			ENSG00000173757	ENSG00000173757		"""SH2 domain containing"""	11367	protein-coding gene	gene with protein product		604260				8631883	Standard	NM_012448		Approved		uc002hzh.3	P51692	OTTHUMG00000150724	ENST00000293328.3:c.1935T>C	17.37:g.40359718A>G			Q8WWS8	Silent	SNP	ENST00000293328.3	37	CCDS11423.1																																																																																				0.393	STAT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319797.1		NM_012448	
TCEB2	6923	hgsc.bcm.edu	37	16	2825480	2825481	+	Frame_Shift_Ins	INS	-	-	G			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr16:2825480_2825481insG	ENST00000409906.4	-	3	272_273	c.215_216insC	c.(214-216)ccafs	p.P72fs	TCEB2_ENST00000409477.1_Frame_Shift_Ins_p.P67fs|TCEB2_ENST00000572954.1_Intron|TCEB2_ENST00000262306.7_Frame_Shift_Ins_p.P72fs	NM_007108.3	NP_009039.1	Q15370	ELOB_HUMAN	transcription elongation factor B (SIII), polypeptide 2 (18kDa, elongin B)	72					cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|protein complex assembly (GO:0006461)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul5-RING ubiquitin ligase complex (GO:0031466)|cytosol (GO:0005829)|elongin complex (GO:0070449)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)	ubiquitin protein ligase binding (GO:0031625)			endometrium(2)|prostate(1)	3						CCACTGTGGCTGGGGCCTGTGG	0.599																																					GBM(141;5215 5962)												0																																										SO:0001589	frameshift_variant	6923			L42856	CCDS32374.1, CCDS45387.1	16p12.3	2008-02-05	2002-08-29		ENSG00000103363	ENSG00000103363			11619	protein-coding gene	gene with protein product		600787	"""transcription elongation factor B (SIII), polypeptide 2 (18kD, elongin B)"""			7638163	Standard	NM_007108		Approved	SIII	uc002crm.3	Q15370	OTTHUMG00000154125	ENST00000409906.4:c.216dupC	16.37:g.2825484_2825484dupG	ENSP00000386652:p.Pro72fs		B7WPD3	Frame_Shift_Ins	INS	ENST00000409906.4	37	CCDS45387.1																																																																																				0.599	TCEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333975.2		NM_007108	
TMEM150A	129303	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	85828149	85828149	+	Silent	SNP	G	G	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr2:85828149G>T	ENST00000409668.1	-	3	662	c.195C>A	c.(193-195)ctC>ctA	p.L65L	TMEM150A_ENST00000306353.3_Nonsense_Mutation_p.S35*|TMEM150A_ENST00000334462.5_Silent_p.L65L			Q86TG1	T150A_HUMAN	transmembrane protein 150A	65					catabolic process (GO:0009056)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L65L(1)		breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						CTTACCTGATGAGGGGGACAT	0.607																																																	1	Substitution - coding silent(1)	kidney(1)											50.0	47.0	48.0					2																	85828149		2203	4300	6503	SO:0001819	synonymous_variant	129303			AK098152	CCDS33233.1	2p11.2	2009-06-12	2009-06-12	2009-06-12	ENSG00000168890	ENSG00000168890			24677	protein-coding gene	gene with protein product			"""transmembrane protein 150"""	TMEM150		10858565	Standard	NM_001031738		Approved	TM6P1, FLJ90024	uc002spy.2	Q86TG1	OTTHUMG00000130168	ENST00000409668.1:c.195C>A	2.37:g.85828149G>T			A8K764|B7WPQ9|D6W5L2|Q8N2R6	Silent	SNP	ENST00000409668.1	37	CCDS33233.1	.	.	.	.	.	.	.	.	.	.	G	37	6.314399	0.97467	.	.	ENSG00000168890	ENST00000306353;ENST00000425160	.	.	.	5.06	4.16	0.48862	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	-33.8669	10.7199	0.46034	0.0:0.0:0.8095:0.1905	.	.	.	.	X	35	.	ENSP00000302715:S35X	S	-	2	0	TMEM150A	85681660	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.717000	0.47227	1.072000	0.40860	0.655000	0.94253	TCA		0.607	TMEM150A-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329474.1		NM_153342	
TXLNA	200081	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	32646917	32646917	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr1:32646917A>C	ENST00000373609.1	+	2	525	c.244A>C	c.(244-246)Ata>Cta	p.I82L	TXLNA_ENST00000373610.3_Missense_Mutation_p.I82L			P40222	TXLNA_HUMAN	taxilin alpha	82					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|exocytosis (GO:0006887)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	cytokine activity (GO:0005125)|high molecular weight B cell growth factor receptor binding (GO:0030372)	p.I82L(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				ACTGGAAGACATACTGAGCAC	0.612																																																	1	Substitution - Missense(1)	kidney(1)											38.0	42.0	41.0					1																	32646917		2203	4300	6503	SO:0001583	missense	200081			AF516206	CCDS353.1	1p35	2012-02-21			ENSG00000084652	ENSG00000084652			30685	protein-coding gene	gene with protein product		608676				15184072, 14623251	Standard	NM_175852		Approved	DKFZp451J0118	uc001bui.3	P40222	OTTHUMG00000004423	ENST00000373609.1:c.244A>C	1.37:g.32646917A>C	ENSP00000362711:p.Ile82Leu		D3DPP6|Q5TFJ6|Q66K62|Q86T54|Q86T85|Q86T86|Q86Y86|Q86YW3|Q8N2Y3	Missense_Mutation	SNP	ENST00000373609.1	37	CCDS353.1	.	.	.	.	.	.	.	.	.	.	A	22.8	4.334261	0.81801	.	.	ENSG00000084652	ENST00000373610;ENST00000373609	T;T	0.58060	0.36;0.36	4.9	4.9	0.64082	.	0.000000	0.85682	D	0.000000	T	0.53318	0.1789	M	0.71036	2.16	0.45025	D	0.998045	B	0.28900	0.227	B	0.27262	0.078	T	0.58002	-0.7713	10	0.59425	D	0.04	-14.5449	14.5494	0.68054	1.0:0.0:0.0:0.0	.	82	P40222	TXLNA_HUMAN	L	82	ENSP00000362712:I82L;ENSP00000362711:I82L	ENSP00000362711:I82L	I	+	1	0	TXLNA	32419504	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.663000	0.91134	1.987000	0.57996	0.529000	0.55759	ATA		0.612	TXLNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012844.1		NM_175852	
IGKV1D-43	28891	broad.mit.edu	37	2	90249300	90249300	+	RNA	DEL	G	G	-	rs377346494		TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr2:90249300delG	ENST00000468879.1	+	0	437									immunoglobulin kappa variable 1D-43																		AAGGTTCAGCGGCAGTGGATC	0.468																																																	0													175.0	170.0	172.0					2																	90249300		1887	4106	5993			0			X72817		2p11.2	2012-10-03			ENSG00000242580	ENSG00000242580		"""Immunoglobulins / IGK locus"""	5758	other	immunoglobulin gene							Standard	NG_000833		Approved				OTTHUMG00000151572		2.37:g.90249300delG				RNA	DEL	ENST00000468879.1	37																																																																																					0.468	IGKV1D-43-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000323147.2		NG_000833	
USP8	9101	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	50763851	50763851	+	Silent	SNP	A	A	G			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr15:50763851A>G	ENST00000396444.3	+	8	1046	c.708A>G	c.(706-708)gaA>gaG	p.E236E	USP8_ENST00000425032.3_Silent_p.E159E|USP8_ENST00000307179.4_Silent_p.E236E|USP8_ENST00000433963.1_Silent_p.E236E	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	236	Rhodanese. {ECO:0000255|PROSITE- ProRule:PRU00173}.				cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)	p.E236E(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GTTGGATTGAAGCACACCTGC	0.388																																																	1	Substitution - coding silent(1)	kidney(1)											129.0	114.0	119.0					15																	50763851		2196	4294	6490	SO:0001819	synonymous_variant	9101			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.708A>G	15.37:g.50763851A>G			B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Silent	SNP	ENST00000396444.3	37	CCDS10137.1																																																																																				0.388	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1		NM_005154	
VHL	7428	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	10188263	10188263	+	Missense_Mutation	SNP	T	T	G	rs397516442		TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr3:10188263T>G	ENST00000256474.2	+	2	1246	c.406T>G	c.(406-408)Ttt>Gtt	p.F136V	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	136	Involved in binding to CCT complex.		F -> C (in pheochromocytoma and VHLD; type II; dbSNP:rs5030833). {ECO:0000269|PubMed:12000816}.|F -> S (in VHLD). {ECO:0000269|PubMed:9829912}.|F -> Y (in VHLD).		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.F136V(4)|p.V137fs*7(4)|p.F136fs*23(3)|p.F136I(1)|p.E134fs*7(1)|p.F136del(1)|p.?fs(1)|p.N131fs*7(1)|p.L135fs*7(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)		AACTGAATTATTTGTGCCATC	0.428		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"""	17	Deletion - Frameshift(6)|Substitution - Missense(5)|Insertion - Frameshift(5)|Deletion - In frame(1)	kidney(17)											215.0	200.0	205.0					3																	10188263		2203	4300	6503	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.406T>G	3.37:g.10188263T>G	ENSP00000256474:p.Phe136Val		B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	23.2	4.385507	0.82792	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99866	-7.3	5.07	5.07	0.68467	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.112845	0.64402	D	0.000007	D	0.99704	0.9887	L	0.52126	1.63	0.80722	D	1	D	0.64830	0.994	D	0.69824	0.966	D	0.96824	0.9606	10	0.87932	D	0	-2.7256	13.0887	0.59156	0.0:0.0:0.0:1.0	.	136	P40337	VHL_HUMAN	V	136;54	ENSP00000256474:F136V	ENSP00000256474:F136V	F	+	1	0	VHL	10163263	1.000000	0.71417	0.915000	0.36163	0.888000	0.51559	5.968000	0.70413	2.047000	0.60756	0.460000	0.39030	TTT		0.428	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
WWC2	80014	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	184175071	184175071	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr4:184175071delA	ENST00000403733.3	+	9	1314	c.1115delA	c.(1114-1116)gaafs	p.E372fs	WWC2_ENST00000378925.3_Frame_Shift_Del_p.E274fs|WWC2_ENST00000504005.1_Frame_Shift_Del_p.E54fs|WWC2_ENST00000448232.2_Frame_Shift_Del_p.E372fs|WWC2_ENST00000513834.1_Frame_Shift_Del_p.E372fs	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	372					negative regulation of hippo signaling (GO:0035331)|negative regulation of organ growth (GO:0046621)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytosol (GO:0005829)	kinase binding (GO:0019900)|protein complex scaffold (GO:0032947)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		GATGAATTAGAACGCCTAGAA	0.453																																																	0													68.0	74.0	72.0					4																	184175071		2203	4300	6503	SO:0001589	frameshift_variant	80014			BC017957	CCDS34109.2	4q35.1	2010-08-05	2006-11-09		ENSG00000151718	ENSG00000151718		"""WW, C2 and coiled-coil domain containing"""	24148	protein-coding gene	gene with protein product			"""WW, C2 and coiled-coil domain containing 2"""			12477932	Standard	NM_024949		Approved	BOMB, FLJ22029	uc010irx.3	Q6AWC2	OTTHUMG00000150685	ENST00000403733.3:c.1115delA	4.37:g.184175071delA	ENSP00000384222:p.Glu372fs		Q32Q84|Q69YQ1|Q6AWB8|Q6ZSY9|Q6ZU09|Q7Z620|Q8TEB8|Q9H6P0	Frame_Shift_Del	DEL	ENST00000403733.3	37	CCDS34109.2																																																																																				0.453	WWC2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319608.1		NM_024949	
ZDHHC22	283576	broad.mit.edu;hgsc.bcm.edu	37	14	77600035	77600035	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr14:77600035C>G	ENST00000319374.4	-	3	985	c.783G>C	c.(781-783)caG>caC	p.Q261H	RP11-463C8.4_ENST00000557752.1_Intron	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	zinc finger, DHHC-type containing 22	261					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)	p.Q261H(2)		kidney(1)|lung(1)|urinary_tract(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		ACTACTTATCCTGCTGCTTGG	0.527																																																	2	Substitution - Missense(2)	kidney(2)											48.0	50.0	49.0					14																	77600035		2054	4230	6284	SO:0001583	missense	283576			AK095612	CCDS45140.1	14q24.3	2008-08-06	2004-03-05	2004-03-10	ENSG00000177108	ENSG00000177108		"""Zinc fingers, DHHC-type"""	20106	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 59"""	C14orf59			Standard	NM_174976		Approved		uc010asp.3	Q8N966		ENST00000319374.4:c.783G>C	14.37:g.77600035C>G	ENSP00000318222:p.Gln261His		A6NH02|B7Z2L5|Q149P4	Missense_Mutation	SNP	ENST00000319374.4	37	CCDS45140.1	.	.	.	.	.	.	.	.	.	.	C	12.32	1.902270	0.33628	.	.	ENSG00000177108	ENST00000319374	T	0.55588	0.51	5.27	2.45	0.29901	.	.	.	.	.	T	0.26593	0.0650	N	0.08118	0	0.27027	N	0.964322	B	0.02656	0.0	B	0.01281	0.0	T	0.14811	-1.0459	9	0.42905	T	0.14	.	1.3516	0.02174	0.2106:0.4258:0.2054:0.1582	.	261	Q8N966	ZDH22_HUMAN	H	261	ENSP00000318222:Q261H	ENSP00000318222:Q261H	Q	-	3	2	ZDHHC22	76669788	0.756000	0.28383	0.979000	0.43373	0.941000	0.58515	0.812000	0.27211	0.596000	0.29794	0.561000	0.74099	CAG		0.527	ZDHHC22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414289.1		NM_174976	
ZFPM2	23414	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	106813474	106813474	+	Silent	SNP	C	C	T	rs376392532		TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr8:106813474C>T	ENST00000407775.2	+	8	1414	c.1164C>T	c.(1162-1164)agC>agT	p.S388S	ZFPM2_ENST00000517361.1_Silent_p.S256S|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000378472.4_Silent_p.S119S|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Silent_p.S256S	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	388					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.S388S(1)		NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			ATGTCCCTAGCGGCAAACTTC	0.517																																																	1	Substitution - coding silent(1)	kidney(1)						C		0,3974		0,0,1987	124.0	120.0	122.0		1164	-4.0	0.1	8		122	1,8359		0,1,4179	no	coding-synonymous	ZFPM2	NM_012082.3		0,1,6166	TT,TC,CC		0.012,0.0,0.0081		388/1152	106813474	1,12333	1987	4180	6167	SO:0001819	synonymous_variant	23414			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1164C>T	8.37:g.106813474C>T			Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Silent	SNP	ENST00000407775.2	37	CCDS47908.1																																																																																				0.517	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380614.1			
ZIC5	85416	broad.mit.edu;hgsc.bcm.edu	37	13	100622569	100622569	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr13:100622569T>C	ENST00000267294.4	-	1	1594	c.1361A>G	c.(1360-1362)gAg>gGg	p.E454G		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	454					cell differentiation (GO:0030154)|forebrain development (GO:0030900)|neural tube closure (GO:0001843)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.E454G(1)		endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCTGCTCTGCTCGGGGCCTCC	0.657																																																	1	Substitution - Missense(1)	kidney(1)											86.0	80.0	82.0					13																	100622569		2203	4300	6503	SO:0001583	missense	85416			AF378304	CCDS9494.2	13q32.2	2013-01-08	2011-05-19		ENSG00000139800	ENSG00000139800		"""Zinc fingers, C2H2-type"""	20322	protein-coding gene	gene with protein product			"""Zic family member 5 (odd-paired homolog, Drosophila)"""				Standard	NM_033132		Approved		uc001vom.1	Q96T25	OTTHUMG00000017280	ENST00000267294.4:c.1361A>G	13.37:g.100622569T>C	ENSP00000267294:p.Glu454Gly		Q5VYB0	Missense_Mutation	SNP	ENST00000267294.4	37	CCDS9494.2	.	.	.	.	.	.	.	.	.	.	T	23.5	4.417781	0.83449	.	.	ENSG00000139800	ENST00000397451;ENST00000267294	T	0.37411	1.2	4.44	4.44	0.53790	.	.	.	.	.	T	0.59636	0.2208	M	0.79258	2.445	0.80722	D	1	D	0.65815	0.995	D	0.79108	0.992	T	0.64871	-0.6305	9	0.72032	D	0.01	.	12.6617	0.56817	0.0:0.0:0.0:1.0	.	454	Q96T25	ZIC5_HUMAN	G	92;454	ENSP00000267294:E454G	ENSP00000267294:E454G	E	-	2	0	ZIC5	99420570	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	6.055000	0.71103	1.604000	0.50143	0.260000	0.18958	GAG		0.657	ZIC5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000045623.3		NM_033132	
ZNF765	91661	broad.mit.edu	37	19	53926630	53926630	+	3'UTR	SNP	C	C	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr19:53926630C>T	ENST00000594030.1	+	0	552				ZNF765_ENST00000596086.1_3'UTR			Q7L2R6	ZN765_HUMAN	zinc finger protein 765						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		GGGGCTCATGCTCTGGGGCAG	0.602																																																	0																																										SO:0001624	3_prime_UTR_variant	91661			BC017357	CCDS46171.1	19q13.41	2013-01-08				ENSG00000196417		"""Zinc fingers, C2H2-type"", ""-"""	25092	protein-coding gene	gene with protein product						12477932	Standard	XR_430215		Approved		uc002qbm.3	Q7L2R6		ENST00000594030.1:c.*275C>T	19.37:g.53926630C>T			A8MYG0|B4DF18|B7ZAI5|B9EIL1|Q9BV49	RNA	SNP	ENST00000594030.1	37																																																																																					0.602	ZNF765-009	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000464547.1		NM_138372	
ZIM3	114026	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	57646763	57646763	+	Silent	SNP	C	C	T			TCGA-BP-4967-01A-01D-1462-08	TCGA-BP-4967-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina HiSeq	75866d14-47d5-4560-a5a0-32ba3e15ac63	dd634438-8fad-4ff4-b306-f372c978a350	g.chr19:57646763C>T	ENST00000269834.1	-	5	1327	c.942G>A	c.(940-942)aaG>aaA	p.K314K	U3_ENST00000516874.1_RNA	NM_052882.1	NP_443114.1	Q96PE6	ZIM3_HUMAN	zinc finger, imprinted 3	314					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.K314K(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAATGAAAGCCTTTCCACAGT	0.398																																																	1	Substitution - coding silent(1)	kidney(1)											137.0	135.0	136.0					19																	57646763		2203	4300	6503	SO:0001819	synonymous_variant	114026			AF365931	CCDS33125.1	19q13.4	2013-01-08				ENSG00000141946		"""Zinc fingers, C2H2-type"", ""-"""	16366	protein-coding gene	gene with protein product							Standard	NM_052882		Approved	ZNF657	uc002qnz.1	Q96PE6		ENST00000269834.1:c.942G>A	19.37:g.57646763C>T			Q14CA6	Silent	SNP	ENST00000269834.1	37	CCDS33125.1																																																																																				0.398	ZIM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465078.1			
