#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
CDH19	28513	hgsc.bcm.edu;ucsc.edu	37	18	64172432	64172432	+	Missense_Mutation	SNP	C	C	T	rs201955048	byFrequency	TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr18:64172432C>T	ENST00000262150.2	-	12	2228	c.1936G>A	c.(1936-1938)Ggt>Agt	p.G646S	CDH19_ENST00000540086.1_3'UTR	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	0	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TCTTCTCCACCCCCTTCATCA	0.408													c|||	7	0.00139776	0.0	0.0	5008	,	,		14427	0.0		0.0	False		,,,				2504	0.0072																0													171.0	171.0	171.0					18																	64172432		2203	4300	6503	SO:0001583	missense	28513			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.1936G>A	18.37:g.64172432C>T	ENSP00000262150:p.Gly646Ser		O15098	Missense_Mutation	SNP	ENST00000262150.2	37	CCDS11994.1	.	.	.	.	.	.	.	.	.	.	c	21.8	4.196437	0.78902	.	.	ENSG00000071991	ENST00000262150	D	0.82619	-1.63	5.18	4.31	0.51392	Cadherin, cytoplasmic domain (1);	0.166538	0.52532	D	0.000077	D	0.92309	0.7560	H	0.94658	3.565	0.80722	D	1	D	0.54047	0.964	P	0.60236	0.871	D	0.94111	0.7371	10	0.87932	D	0	.	14.0203	0.64550	0.0:0.9267:0.0:0.0733	.	646	Q9H159	CAD19_HUMAN	S	646	ENSP00000262150:G646S	ENSP00000262150:G646S	G	-	1	0	CDH19	62323412	0.693000	0.27728	0.220000	0.23810	0.471000	0.32888	0.509000	0.22707	1.306000	0.44926	0.650000	0.86243	GGT		0.408	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256219.1		NM_021153	
CIRH1A	84916	hgsc.bcm.edu	37	16	69184578	69184578	+	Missense_Mutation	SNP	G	G	T	rs370401281		TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr16:69184578G>T	ENST00000314423.7	+	7	1054	c.877G>T	c.(877-879)Gtg>Ttg	p.V293L	CIRH1A_ENST00000569615.2_3'UTR|CIRH1A_ENST00000352319.4_Missense_Mutation_p.V293L|CIRH1A_ENST00000563094.1_Missense_Mutation_p.V293L			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	293					maturation of SSU-rRNA (GO:0030490)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CGTGCGCACTGTGGCCCACAG	0.562											OREG0023906	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(69;1156 1278 4951 8715 52012)												0													117.0	98.0	104.0					16																	69184578		2198	4300	6498	SO:0001583	missense	84916			AB075868	CCDS10872.1	16q22	2014-04-07			ENSG00000141076	ENSG00000141076		"""WD repeat domain containing"""	1983	protein-coding gene	gene with protein product	"""UTP4, small subunit (SSU) processome component, homolog (yeast)"""	607456				10820129, 20385600	Standard	NM_032830		Approved	NAIC, FLJ14728, KIAA1988, TEX292, CIRHIN, UTP4	uc002ews.4	Q969X6	OTTHUMG00000137570	ENST00000314423.7:c.877G>T	16.37:g.69184578G>T	ENSP00000327179:p.Val293Leu	1112	Q8NCD9|Q8TF14|Q96SP0|Q96SR9|Q96SZ9|Q96T13|Q9BWK6	Missense_Mutation	SNP	ENST00000314423.7	37	CCDS10872.1	.	.	.	.	.	.	.	.	.	.	G	10.34	1.322818	0.23994	.	.	ENSG00000141076	ENST00000314423;ENST00000352319	T;T	0.29142	1.58;2.43	5.86	5.86	0.93980	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.057647	0.64402	D	0.000002	T	0.19005	0.0456	N	0.03050	-0.425	0.52099	D	0.999942	B;B;B	0.31730	0.337;0.027;0.085	B;B;B	0.37989	0.262;0.044;0.034	T	0.19128	-1.0315	10	0.15499	T	0.54	.	19.7864	0.96440	0.0:0.0:1.0:0.0	.	293;293;293	Q969X6-2;Q969X6;Q969X6-3	.;CIR1A_HUMAN;.	L	293	ENSP00000327179:V293L;ENSP00000339164:V293L	ENSP00000327179:V293L	V	+	1	0	CIRH1A	67742079	1.000000	0.71417	0.966000	0.40874	0.815000	0.46073	6.721000	0.74728	2.777000	0.95525	0.508000	0.49915	GTG		0.562	CIRH1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268950.2		NM_032830	
CNFN	84518	hgsc.bcm.edu	37	19	42893091	42893091	+	Silent	SNP	G	G	A	rs139046031	byFrequency	TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr19:42893091G>A	ENST00000222032.5	-	2	148	c.99C>T	c.(97-99)aaC>aaT	p.N33N	CNFN_ENST00000597255.1_Silent_p.N33N	NM_032488.3	NP_115877.2	Q9BYD5	CNFN_HUMAN	cornifelin	33	Cys-rich.				keratinization (GO:0031424)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				lung(1)|prostate(1)	2		Prostate(69;0.00899)				CAGGCATGTCGTTGCAGCAGT	0.612													G|||	34	0.00678914	0.0038	0.0159	5008	,	,		18574	0.003		0.0109	False		,,,				2504	0.0041																0								G		18,4388	26.2+/-53.5	0,18,2185	120.0	90.0	100.0		99	-2.9	1.0	19	dbSNP_134	100	116,8484	61.3+/-123.2	0,116,4184	no	coding-synonymous	CNFN	NM_032488.3		0,134,6369	AA,AG,GG		1.3488,0.4085,1.0303		33/113	42893091	134,12872	2203	4300	6503	SO:0001819	synonymous_variant	84518			AB049591	CCDS12606.1	19q13.31	2006-01-11				ENSG00000105427			30183	protein-coding gene	gene with protein product		611764					Standard	NM_032488		Approved	PLAC8L2	uc002otp.4	Q9BYD5		ENST00000222032.5:c.99C>T	19.37:g.42893091G>A			B2R569	Silent	SNP	ENST00000222032.5	37	CCDS12606.1																																																																																				0.612	CNFN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463859.1		NM_032488	
CTRB2	440387	hgsc.bcm.edu	37	16	75241033	75241033	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr16:75241033A>G	ENST00000303037.8	-	1	50	c.7T>C	c.(7-9)Ttc>Ctc	p.F3L		NM_001025200.3	NP_001020371.3	Q6GPI1	CTRB2_HUMAN	chymotrypsinogen B2	3				F -> S (in Ref. 3; AAH73145). {ECO:0000305}.	cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			endometrium(1)|large_intestine(1)|lung(2)	4						AGCCAGAGGAAAGCCATGGTG	0.642																																																	0													54.0	52.0	53.0					16																	75241033		2153	4252	6405	SO:0001583	missense	440387			M24400, AK131056	CCDS32489.1	16q22.3	2007-10-22			ENSG00000168928	ENSG00000168928			2522	protein-coding gene	gene with protein product						2917002, 8186414	Standard	NM_001025200		Approved		uc002fdr.3	Q6GPI1	OTTHUMG00000159271	ENST00000303037.8:c.7T>C	16.37:g.75241033A>G	ENSP00000303963:p.Phe3Leu		A8K707	Missense_Mutation	SNP	ENST00000303037.8	37	CCDS32489.1	.	.	.	.	.	.	.	.	.	.	A	11.87	1.766958	0.31320	.	.	ENSG00000168928	ENST00000303037	D	0.87029	-2.2	4.57	0.921	0.19403	.	0.570367	0.16857	U	0.196685	T	0.69984	0.3172	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.17433	0.018	T	0.57057	-0.7876	10	0.34782	T	0.22	.	5.2646	0.15591	0.5554:0.2803:0.1643:0.0	.	3	Q6GPI1	CTRB2_HUMAN	L	3	ENSP00000303963:F3L	ENSP00000303963:F3L	F	-	1	0	CTRB2	73798534	0.020000	0.18652	0.000000	0.03702	0.030000	0.12068	2.220000	0.42908	0.018000	0.15052	0.402000	0.26972	TTC		0.642	CTRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354298.2		NM_001025200	
DMD	1756	hgsc.bcm.edu;ucsc.edu	37	X	31947776	31947777	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	TA	TA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chrX:31947776_31947777delTA	ENST00000357033.4	-	47	7054_7055	c.6848_6849delTA	c.(6847-6849)atafs	p.I2283fs	DMD_ENST00000541735.1_5'UTR|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000378677.2_Frame_Shift_Del_p.I2279fs|DMD_ENST00000378707.3_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2283					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)	p.I2278T(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTTCTGGGCTTATGGGAGCACT	0.426																																																	1	Substitution - Missense(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.6848_6849delTA	X.37:g.31947776_31947777delTA	ENSP00000354923:p.Ile2283fs		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Frame_Shift_Del	DEL	ENST00000357033.4	37	CCDS14233.1																																																																																				0.426	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2		NM_004006	
EVC	2121	hgsc.bcm.edu	37	4	5755604	5755604	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr4:5755604C>G	ENST00000264956.6	+	10	1592	c.1408C>G	c.(1408-1410)Cag>Gag	p.Q470E	EVC_ENST00000382674.2_Missense_Mutation_p.Q470E|EVC_ENST00000509451.1_Missense_Mutation_p.Q470E	NM_153717.2	NP_714928.1	P57679	EVC_HUMAN	Ellis van Creveld syndrome	470					cartilage development (GO:0051216)|endochondral bone growth (GO:0003416)|muscle organ development (GO:0007517)|positive regulation of smoothened signaling pathway (GO:0045880)|skeletal system development (GO:0001501)|smoothened signaling pathway (GO:0007224)	ciliary basal body (GO:0036064)|cilium (GO:0005929)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				AGAGGAGGAACAGAGAAGCTT	0.592																																																	0													87.0	81.0	83.0					4																	5755604		2203	4300	6503	SO:0001583	missense	2121			AF216184	CCDS3383.1	4p16	2008-07-03			ENSG00000072840	ENSG00000072840			3497	protein-coding gene	gene with protein product		604831				10700184	Standard	NM_153717		Approved	DWF-1	uc003gil.1	P57679	OTTHUMG00000090427	ENST00000264956.6:c.1408C>G	4.37:g.5755604C>G	ENSP00000264956:p.Gln470Glu			Missense_Mutation	SNP	ENST00000264956.6	37	CCDS3383.1	.	.	.	.	.	.	.	.	.	.	C	9.938	1.216750	0.22373	.	.	ENSG00000072840	ENST00000264956;ENST00000382674;ENST00000509451	T;T;T	0.53640	0.61;0.61;0.68	5.04	4.1	0.47936	.	0.444472	0.21795	N	0.069019	T	0.37237	0.0996	L	0.34521	1.04	0.18873	N	0.999989	B	0.15473	0.013	B	0.19391	0.025	T	0.31998	-0.9923	10	0.54805	T	0.06	.	11.5255	0.50578	0.2604:0.7396:0.0:0.0	.	470	P57679	EVC_HUMAN	E	470	ENSP00000264956:Q470E;ENSP00000372120:Q470E;ENSP00000426774:Q470E	ENSP00000264956:Q470E	Q	+	1	0	EVC	5806505	0.001000	0.12720	0.030000	0.17652	0.051000	0.14879	1.048000	0.30379	2.354000	0.79902	0.561000	0.74099	CAG		0.592	EVC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206859.1			
FREM2	341640	hgsc.bcm.edu;ucsc.edu	37	13	39265273	39265273	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr13:39265273T>G	ENST00000280481.7	+	1	4008	c.3792T>G	c.(3790-3792)atT>atG	p.I1264M		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1264					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CCAGCATTATTTATGAGCATG	0.428																																																	0													201.0	197.0	198.0					13																	39265273		2203	4300	6503	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.3792T>G	13.37:g.39265273T>G	ENSP00000280481:p.Ile1264Met		Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	ENST00000280481.7	37	CCDS31960.1	.	.	.	.	.	.	.	.	.	.	T	8.632	0.893832	0.17613	.	.	ENSG00000150893	ENST00000280481	T	0.51071	0.72	6.01	1.03	0.20045	Cadherin (1);	0.226683	0.45361	D	0.000364	T	0.36468	0.0968	L	0.45698	1.435	0.41423	D	0.98781	P	0.43973	0.823	P	0.45232	0.474	T	0.11792	-1.0573	10	0.29301	T	0.29	.	2.3665	0.04320	0.1161:0.3539:0.1899:0.3401	.	1264	Q5SZK8	FREM2_HUMAN	M	1264	ENSP00000280481:I1264M	ENSP00000280481:I1264M	I	+	3	3	FREM2	38163273	0.075000	0.21258	1.000000	0.80357	0.843000	0.47879	-0.795000	0.04580	0.179000	0.19938	-0.290000	0.09829	ATT		0.428	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044599.2		NM_207361	
GADD45G	10912	hgsc.bcm.edu	37	9	92220937	92220937	+	Silent	SNP	T	T	C			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr9:92220937T>C	ENST00000252506.6	+	4	532	c.423T>C	c.(421-423)ttT>ttC	p.F141F	GADD45G_ENST00000494726.1_3'UTR|GADD45G_ENST00000375769.1_Silent_p.F123F	NM_006705.3	NP_006696.1	O95257	GA45G_HUMAN	growth arrest and DNA-damage-inducible, gamma	141					activation of MAPKK activity (GO:0000186)|activation of MAPKKK activity (GO:0000185)|apoptotic process (GO:0006915)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of p38MAPK cascade (GO:1900745)|regulation of cell cycle (GO:0051726)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				lung(2)	2						TCAGCCTGTTTTGCGAGGAGA	0.677																																					Colon(131;320 2336 18973 23919)												0													48.0	49.0	49.0					9																	92220937		2203	4300	6503	SO:0001819	synonymous_variant	10912			D83023	CCDS6686.1	9q22.1-q22.2	2008-07-21			ENSG00000130222	ENSG00000130222			4097	protein-coding gene	gene with protein product	"""gadd-related protein, 17 kD"", ""growth arrest and DNA-damage-inducible gamma"""	604949				9827804, 10496071	Standard	NM_006705		Approved	DDIT2, GADD45gamma, GRP17, CR6	uc004aqq.3	O95257	OTTHUMG00000020187	ENST00000252506.6:c.423T>C	9.37:g.92220937T>C			Q5VZ87|Q9C076	Silent	SNP	ENST00000252506.6	37	CCDS6686.1																																																																																				0.677	GADD45G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053000.1		NM_006705	
GRM8	2918	hgsc.bcm.edu;ucsc.edu	37	7	126883202	126883202	+	Silent	SNP	G	G	A			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr7:126883202G>A	ENST00000339582.2	-	2	865	c.57C>T	c.(55-57)gcC>gcT	p.A19A	GRM8_ENST00000405249.1_Silent_p.A19A|GRM8_ENST00000444921.2_Silent_p.A19A|GRM8_ENST00000358373.3_Silent_p.A19A			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	19					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				AGTAGAACTTGGCGGTCAAGA	0.488										HNSCC(24;0.065)																																							0													86.0	83.0	84.0					7																	126883202		2203	4300	6503	SO:0001819	synonymous_variant	2918				CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.57C>T	7.37:g.126883202G>A			A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	CCDS5794.1																																																																																				0.488	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			
IL18RAP	8807	hgsc.bcm.edu;ucsc.edu	37	2	103068343	103068343	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr2:103068343C>T	ENST00000264260.2	+	12	2091	c.1502C>T	c.(1501-1503)gCc>gTc	p.A501V	IL18RAP_ENST00000409369.1_Missense_Mutation_p.A359V	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	501	TIR. {ECO:0000255|PROSITE- ProRule:PRU00204}.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GTGAATCTTGCCTTGGATGAT	0.398																																																	0													126.0	128.0	127.0					2																	103068343		2203	4300	6503	SO:0001583	missense	8807			AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1502C>T	2.37:g.103068343C>T	ENSP00000264260:p.Ala501Val		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	C	24.2	4.504285	0.85176	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.10005	2.92;2.92	6.02	6.02	0.97574	Toll/interleukin-1 receptor homology (TIR) domain (4);	0.000000	0.64402	D	0.000002	T	0.30603	0.0770	M	0.65975	2.015	0.38419	D	0.946124	D	0.71674	0.998	D	0.72338	0.977	T	0.00792	-1.1564	10	0.42905	T	0.14	.	14.657	0.68841	0.0:0.9312:0.0:0.0688	.	501	O95256	I18RA_HUMAN	V	501;359	ENSP00000264260:A501V;ENSP00000387201:A359V	ENSP00000264260:A501V	A	+	2	0	IL18RAP	102434775	0.997000	0.39634	1.000000	0.80357	0.965000	0.64279	2.641000	0.46587	2.857000	0.98124	0.650000	0.86243	GCC		0.398	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2		NM_003853	
KCNJ2	3759	hgsc.bcm.edu;ucsc.edu	37	17	68172170	68172170	+	Silent	SNP	C	C	G			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr17:68172170C>G	ENST00000243457.3	+	2	1373	c.990C>G	c.(988-990)ctC>ctG	p.L330L	KCNJ2_ENST00000535240.1_Silent_p.L330L	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	330				L -> F (in Ref. 4; AAC39555). {ECO:0000305}.	cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					AGCCTGTGCTCTTTGAAGAGA	0.493																																																	0													64.0	67.0	66.0					17																	68172170		2203	4300	6503	SO:0001819	synonymous_variant	3759			AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.990C>G	17.37:g.68172170C>G			O15110|P48049	Silent	SNP	ENST00000243457.3	37	CCDS11688.1																																																																																				0.493	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450889.1		NM_000891	
KIAA0232	9778	hgsc.bcm.edu;ucsc.edu	37	4	6862718	6862718	+	Silent	SNP	C	C	T			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr4:6862718C>T	ENST00000307659.5	+	7	1064	c.609C>T	c.(607-609)taC>taT	p.Y203Y	KIAA0232_ENST00000425103.1_Silent_p.Y203Y	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	203	Poly-Ser.						ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TCTGTTCTTACTCTAGCTCTT	0.438																																																	0													129.0	133.0	131.0					4																	6862718		2039	4189	6228	SO:0001819	synonymous_variant	9778			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.609C>T	4.37:g.6862718C>T			A7E2D2	Silent	SNP	ENST00000307659.5	37	CCDS43209.1																																																																																				0.438	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359102.2		NM_014743	
KANSL3	55683	hgsc.bcm.edu;ucsc.edu	37	2	97270575	97270575	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr2:97270575C>T	ENST00000431828.1	-	16	2035	c.1959G>A	c.(1957-1959)atG>atA	p.M653I	KANSL3_ENST00000441706.2_Intron|KANSL3_ENST00000599854.1_Missense_Mutation_p.M566I|KANSL3_ENST00000487070.1_5'UTR|KANSL3_ENST00000440133.1_Missense_Mutation_p.M473I			Q9P2N6	KANL3_HUMAN	KAT8 regulatory NSL complex subunit 3	679					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)											GCCCCAGTGTCATGGTGATGG	0.527																																																	0													54.0	53.0	53.0					2																	97270575		1952	4162	6114	SO:0001583	missense	0			BC063792	CCDS46361.1	2q11.2	2011-10-31	2011-10-31	2011-10-31	ENSG00000114982	ENSG00000114982			25473	protein-coding gene	gene with protein product			"""KIAA1310"""	KIAA1310			Standard	NM_001115016		Approved	FLJ10081, Rcd1, NSL3	uc002swn.5	Q9P2N6	OTTHUMG00000155249	ENST00000431828.1:c.1959G>A	2.37:g.97270575C>T	ENSP00000396749:p.Met653Ile		A1L184|D3DXH3|D3DXH4|Q05BU4|Q6P3X2|Q6PJH6|Q86T19|Q96L64|Q9H0C9|Q9H8C9|Q9HAP8|Q9NWE5	Missense_Mutation	SNP	ENST00000431828.1	37	CCDS46361.1	.	.	.	.	.	.	.	.	.	.	C	12.95	2.091792	0.36952	.	.	ENSG00000114982	ENST00000354204;ENST00000447759;ENST00000431828;ENST00000440133;ENST00000444759	T;T	0.42900	0.96;0.97	5.92	5.05	0.67936	.	0.342566	0.35615	N	0.003096	T	0.24314	0.0589	N	0.14661	0.345	0.80722	D	1	B;B;B;B;B	0.13594	0.002;0.008;0.001;0.003;0.002	B;B;B;B;B	0.11329	0.004;0.006;0.001;0.006;0.004	T	0.07673	-1.0760	10	0.23302	T	0.38	.	9.1966	0.37231	0.0:0.8377:0.0:0.1623	.	447;679;653;564;539	B4E1W4;Q9P2N6;Q9P2N6-3;Q9P2N6-5;Q9P2N6-6	.;K1310_HUMAN;.;.;.	I	566;539;653;473;447	ENSP00000396749:M653I;ENSP00000406207:M473I	ENSP00000346144:M566I	M	-	3	0	KIAA1310	96634302	1.000000	0.71417	0.905000	0.35620	0.935000	0.57460	2.149000	0.42244	1.523000	0.49018	0.650000	0.86243	ATG		0.527	KANSL3-009	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339040.2		NM_017991	
LDHB	3945	hgsc.bcm.edu;ucsc.edu	37	12	21791314	21791314	+	Missense_Mutation	SNP	T	T	A			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr12:21791314T>A	ENST00000396076.1	-	6	1018	c.686A>T	c.(685-687)aAg>aTg	p.K229M	LDHB_ENST00000350669.1_Missense_Mutation_p.K229M	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	229					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|lactate metabolic process (GO:0006089)|NAD metabolic process (GO:0019674)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)	L-lactate dehydrogenase activity (GO:0004459)|NAD binding (GO:0051287)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26						ATGCACTTCCTTCCAATTTTC	0.353																																																	0													130.0	126.0	128.0					12																	21791314		2203	4300	6503	SO:0001583	missense	3945				CCDS8691.1	12p12.2-p12.1	2012-10-02			ENSG00000111716	ENSG00000111716	1.1.1.27		6541	protein-coding gene	gene with protein product		150100					Standard	NM_002300		Approved		uc001rfe.3	P07195	OTTHUMG00000133760	ENST00000396076.1:c.686A>T	12.37:g.21791314T>A	ENSP00000379386:p.Lys229Met			Missense_Mutation	SNP	ENST00000396076.1	37	CCDS8691.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.117821	0.77323	.	.	ENSG00000111716	ENST00000396076;ENST00000350669;ENST00000396075	T;T;T	0.70045	-0.45;-0.45;-0.13	4.89	4.89	0.63831	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.087601	0.85682	D	0.000000	D	0.83603	0.5290	M	0.93062	3.375	0.58432	D	0.999999	D	0.59357	0.985	P	0.60068	0.868	D	0.87946	0.2720	10	0.72032	D	0.01	.	14.4884	0.67634	0.0:0.0:0.0:1.0	.	229	P07195	LDHB_HUMAN	M	229	ENSP00000379386:K229M;ENSP00000229319:K229M;ENSP00000379385:K229M	ENSP00000229319:K229M	K	-	2	0	LDHB	21682581	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.088000	0.64486	1.831000	0.53308	0.533000	0.62120	AAG		0.353	LDHB-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258220.2		NM_002300	
MAP3K10	4294	hgsc.bcm.edu	37	19	40698258	40698258	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr19:40698258G>T	ENST00000253055.3	+	1	608	c.320G>T	c.(319-321)gGg>gTg	p.G107V	MAP3K10_ENST00000593906.1_3'UTR	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	107	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> E (in a metastatic melanoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)	p.G107E(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						ATCGGTGTGGGGGGCTTTGGC	0.697																																																	1	Substitution - Missense(1)	skin(1)											32.0	36.0	34.0					19																	40698258		2203	4299	6502	SO:0001583	missense	4294			X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.320G>T	19.37:g.40698258G>T	ENSP00000253055:p.Gly107Val		Q12761|Q14871	Missense_Mutation	SNP	ENST00000253055.3	37	CCDS12549.1	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326993	0.81690	.	.	ENSG00000130758	ENST00000253055	D	0.99683	-6.39	4.3	4.3	0.51218	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99849	0.9930	H	0.98918	4.37	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96434	0.9321	10	0.87932	D	0	.	14.3128	0.66426	0.0:0.0:1.0:0.0	.	107	Q02779	M3K10_HUMAN	V	107	ENSP00000253055:G107V	ENSP00000253055:G107V	G	+	2	0	MAP3K10	45390098	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.604000	0.98317	2.232000	0.73038	0.655000	0.94253	GGG		0.697	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462552.1		NM_002446	
OGDH	4967	hgsc.bcm.edu;ucsc.edu	37	7	44747245	44747245	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr7:44747245C>T	ENST00000222673.5	+	22	2903	c.2861C>T	c.(2860-2862)gCc>gTc	p.A954V	OGDH_ENST00000543843.1_Missense_Mutation_p.A905V|OGDH_ENST00000447398.1_Missense_Mutation_p.A965V|OGDH_ENST00000439616.2_Missense_Mutation_p.A804V|OGDH_ENST00000444676.1_Missense_Mutation_p.A969V|OGDH_ENST00000449767.1_Missense_Mutation_p.A950V	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	954					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	GCTGAGCTGGCCTGGTGCCAG	0.562																																																	0													127.0	110.0	116.0					7																	44747245		2203	4300	6503	SO:0001583	missense	4967			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2861C>T	7.37:g.44747245C>T	ENSP00000222673:p.Ala954Val		B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	ENST00000222673.5	37	CCDS34627.1	.	.	.	.	.	.	.	.	.	.	C	5.624	0.299855	0.10622	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	T;T;T;T;T;T	0.10960	2.82;2.82;2.82;2.82;2.82;2.82	5.24	2.47	0.30058	.	0.316027	0.34555	N	0.003872	T	0.01870	0.0059	N	0.00277	-1.72	0.34188	D	0.671675	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0	T	0.41413	-0.9510	10	0.02654	T	1	-18.3061	7.3766	0.26831	0.0:0.5161:0.0:0.4839	.	749;804;950;965;954	B4E3E9;E9PFG7;E9PBM1;E9PDF2;Q02218	.;.;.;.;ODO1_HUMAN	V	804;950;965;969;954;905	ENSP00000398576:A804V;ENSP00000392878:A950V;ENSP00000388183:A965V;ENSP00000414662:A969V;ENSP00000222673:A954V;ENSP00000443821:A905V	ENSP00000222673:A954V	A	+	2	0	OGDH	44713770	0.986000	0.35501	0.998000	0.56505	0.986000	0.74619	1.771000	0.38542	0.229000	0.21039	-0.339000	0.08088	GCC		0.562	OGDH-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000339391.1			
OR51V1	283111	hgsc.bcm.edu	37	11	5221519	5221519	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr11:5221519G>T	ENST00000321255.1	-	1	411	c.412C>A	c.(412-414)Cca>Aca	p.P138T		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	138					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAACGTAGTGGATTGCAAATT	0.433																																																	0													59.0	60.0	59.0					11																	5221519		2201	4298	6499	SO:0001583	missense	283111			BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.412C>A	11.37:g.5221519G>T	ENSP00000321729:p.Pro138Thr			Missense_Mutation	SNP	ENST00000321255.1	37	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	G	20.6	4.010683	0.75046	.	.	ENSG00000176742	ENST00000321255	T	0.01887	4.58	5.26	5.26	0.73747	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000086	T	0.28699	0.0711	H	0.99444	4.57	0.51482	D	0.999925	D	0.89917	1.0	D	0.97110	1.0	T	0.57165	-0.7858	10	0.87932	D	0	.	17.5935	0.88004	0.0:0.0:1.0:0.0	.	138	Q9H2C8	O51V1_HUMAN	T	138	ENSP00000321729:P138T	ENSP00000321729:P138T	P	-	1	0	OR51V1	5178095	1.000000	0.71417	0.936000	0.37596	0.668000	0.39293	7.071000	0.76770	2.738000	0.93877	0.650000	0.86243	CCA		0.433	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1		NM_001004760	
PGBD3	267004	hgsc.bcm.edu	37	10	50725062	50725062	+	Silent	SNP	A	A	T	rs368221420		TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr10:50725062A>T	ENST00000374127.3	-	2	300	c.99T>A	c.(97-99)gcT>gcA	p.A33A	ERCC6-PGBD3_ENST00000515869.1_Silent_p.A501A|ERCC6_ENST00000355832.5_Intron|ERCC6-PGBD3_ENST00000447839.2_Silent_p.A501A|PGBD3_ENST00000603152.1_Silent_p.A501A|PGBD3_ENST00000508005.2_Silent_p.A33A	NM_170753.2	NP_736609.2	Q8N328	PGBD3_HUMAN	piggyBac transposable element derived 3	33										breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(16)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	33						CAGGTGCTGTAGCATTTTCAG	0.403													A|||	1	0.000199681	0.0	0.0	5008	,	,		20605	0.0		0.001	False		,,,				2504	0.0																0								A	,	1,4405	2.1+/-5.4	0,1,2202	134.0	134.0	134.0		,99	-0.7	0.7	10		134	1,8599	1.2+/-3.3	0,1,4299	no	intron,coding-synonymous	ERCC6,PGBD3	NM_000124.2,NM_170753.2	,	0,2,6501	TT,TA,AA		0.0116,0.0227,0.0154	,	,33/594	50725062	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	267004			AK074682	CCDS7230.1	10q11	2011-03-24			ENSG00000243251	ENSG00000243251			19400	protein-coding gene	gene with protein product							Standard	NM_170753		Approved	FLJ90201		Q8N328	OTTHUMG00000018193	ENST00000374127.3:c.99T>A	10.37:g.50725062A>T			B3KQC4|Q5W0M0|Q6PIH0	Silent	SNP	ENST00000374127.3	37	CCDS7230.1																																																																																				0.403	PGBD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047988.1			
PGS1	9489	hgsc.bcm.edu;ucsc.edu	37	17	76388642	76388642	+	Missense_Mutation	SNP	G	G	A	rs374120789		TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr17:76388642G>A	ENST00000262764.6	+	2	255	c.229G>A	c.(229-231)Gtg>Atg	p.V77M	PGS1_ENST00000329897.7_5'UTR	NM_024419.3	NP_077733.3	Q32NB8	PGPS1_HUMAN	phosphatidylglycerophosphate synthase 1	77					cardiolipin biosynthetic process (GO:0032049)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|CDP-diacylglycerol-glycerol-3-phosphate 3-phosphatidyltransferase activity (GO:0008444)	p.V77M(1)		cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	10			BRCA - Breast invasive adenocarcinoma(99;0.00144)|OV - Ovarian serous cystadenocarcinoma(97;0.031)			TCCAGAAGGCGTGCACCGGTT	0.537																																					Esophageal Squamous(45;182 1126 10685 43198)												1	Substitution - Missense(1)	lung(1)						G	MET/VAL	1,3873		0,1,1936	83.0	84.0	84.0		229	4.4	0.9	17		84	0,8264		0,0,4132	no	missense	PGS1	NM_024419.3	21	0,1,6068	AA,AG,GG		0.0,0.0258,0.0082	benign	77/557	76388642	1,12137	1937	4132	6069	SO:0001583	missense	9489				CCDS42391.1	17q25.3	2006-02-09							30029	protein-coding gene	gene with protein product		614942				9880566	Standard	XR_243691		Approved	DKFZP762M186	uc002jvm.3	Q32NB8		ENST00000262764.6:c.229G>A	17.37:g.76388642G>A	ENSP00000262764:p.Val77Met		B7ZA32|Q8IYK9|Q8TA85|Q96A75|Q9H7G9|Q9NPW7	Missense_Mutation	SNP	ENST00000262764.6	37	CCDS42391.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554921	0.45487	2.58E-4	0.0	ENSG00000087157	ENST00000262764	T	0.22539	1.95	5.38	4.4	0.53042	.	0.357660	0.27531	N	0.018945	T	0.08492	0.0211	N	0.08118	0	0.80722	D	1	P	0.42296	0.775	B	0.33521	0.165	T	0.23476	-1.0187	10	0.33940	T	0.23	-26.4227	7.7324	0.28793	0.0738:0.0:0.6325:0.2938	.	77	Q32NB8	PGPS1_HUMAN	M	77	ENSP00000262764:V77M	ENSP00000262764:V77M	V	+	1	0	PGS1	73900237	0.990000	0.36364	0.912000	0.35992	0.849000	0.48306	2.996000	0.49449	1.260000	0.44134	0.591000	0.81541	GTG		0.537	PGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437301.1		NM_024419	
PRDM10	56980	hgsc.bcm.edu	37	11	129782003	129782003	+	Missense_Mutation	SNP	C	C	G	rs141397814	byFrequency	TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr11:129782003C>G	ENST00000360871.3	-	18	3190	c.2959G>C	c.(2959-2961)Gcc>Ccc	p.A987P	PRDM10_ENST00000526082.1_Missense_Mutation_p.A905P|PRDM10_ENST00000423662.2_Intron|PRDM10_ENST00000358825.5_Missense_Mutation_p.A991P|PRDM10_ENST00000304538.6_Intron|PRDM10_ENST00000528746.1_Intron	NM_199437.1	NP_955469.1	Q9NQV6	PRD10_HUMAN	PR domain containing 10	984	Gln-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GGGGCCGAGGCGGTAGGCTCG	0.577																																																	0													135.0	120.0	125.0					11																	129782003		2201	4297	6498	SO:0001583	missense	56980			AF275817	CCDS8484.1, CCDS8485.1, CCDS44771.1, CCDS44772.1	11q24.3	2013-01-08			ENSG00000170325	ENSG00000170325		"""Zinc fingers, C2H2-type"""	13995	protein-coding gene	gene with protein product	"""PRDM zinc finger transcription factor"", ""PR-domain family member 7"", ""tristanin"""					12175877	Standard	NM_020228		Approved	KIAA1231, PFM7, MGC131802	uc001qfm.3	Q9NQV6	OTTHUMG00000165762	ENST00000360871.3:c.2959G>C	11.37:g.129782003C>G	ENSP00000354118:p.Ala987Pro		B7ZL71|G3XAE5|J3KP23|Q17R90|Q2KHR4|Q863Z2|Q9NXI4|Q9ULI9	Missense_Mutation	SNP	ENST00000360871.3	37	CCDS8484.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.756825	0.31137	.	.	ENSG00000170325	ENST00000358825;ENST00000360871;ENST00000526082;ENST00000533431	T;T;T;T	0.10860	2.86;2.85;2.83;2.92	5.77	-11.5	0.00074	.	0.722330	0.13716	N	0.367722	T	0.02970	0.0088	N	0.12182	0.205	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.0;0.003;0.0	T	0.20306	-1.0279	10	0.34782	T	0.22	-1.1124	0.9101	0.01293	0.2277:0.1475:0.2803:0.3445	.	901;987;905	B7ZL72;G3XAE5;Q9NQV6-5	.;.;.	P	991;987;905;704	ENSP00000351686:A991P;ENSP00000354118:A987P;ENSP00000432237:A905P;ENSP00000435940:A704P	ENSP00000351686:A991P	A	-	1	0	PRDM10	129287213	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-1.080000	0.03407	-3.062000	0.00256	-0.136000	0.14681	GCC		0.577	PRDM10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386076.1		NM_199437	
RAPGEF6	51735	hgsc.bcm.edu	37	5	130928142	130928142	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr5:130928142C>A	ENST00000509018.1	-	4	420	c.215G>T	c.(214-216)aGa>aTa	p.R72I	RAPGEF6_ENST00000503398.2_5'Flank|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.R122I|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.R72I|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.R72I|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.R72I|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.R72I|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.R72I	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	72					positive regulation of GTPase activity (GO:0043547)|Ras protein signal transduction (GO:0007265)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	GTP-dependent protein binding (GO:0030742)|guanyl-nucleotide exchange factor activity (GO:0005085)|Ras GTPase binding (GO:0017016)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATACCAACATCTGGCAATCGT	0.348																																					Melanoma(168;435 1955 13113 13877 23213)												0													89.0	74.0	79.0					5																	130928142		2203	4300	6503	SO:0001583	missense	51735			AF117947	CCDS34225.1, CCDS54897.1, CCDS54898.1, CCDS54899.1, CCDS54900.1	5q31.1	2008-02-05	2004-03-01	2004-03-02	ENSG00000158987	ENSG00000158987			20655	protein-coding gene	gene with protein product		610499	"""PDZ domain containing guanine nucleotide exchange factor (GEF) 2"""	PDZGEF2		11524421, 12095257	Standard	NM_016340		Approved	RA-GEF-2, PDZ-GEF2	uc010jdi.2	Q8TEU7	OTTHUMG00000162683	ENST00000509018.1:c.215G>T	5.37:g.130928142C>A	ENSP00000421684:p.Arg72Ile		A3KN82|A5PLL6|B7ZML2|E9PDV7|Q8NI21|Q8TEU6|Q96PC1	Missense_Mutation	SNP	ENST00000509018.1	37	CCDS34225.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.317676	0.60524	.	.	ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000158987;ENSG00000217128	ENST00000509018;ENST00000307984;ENST00000507093;ENST00000296859;ENST00000358714;ENST00000308008;ENST00000510071;ENST00000514667	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	4.73	4.73	0.59995	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);	0.185071	0.34853	N	0.003627	T	0.40694	0.1127	L	0.59436	1.845	0.80722	D	1	B;B;B;B;B;P	0.35174	0.041;0.041;0.061;0.041;0.115;0.488	B;B;B;B;B;B	0.29862	0.013;0.013;0.029;0.018;0.045;0.108	T	0.47812	-0.9088	10	0.62326	D	0.03	.	16.8241	0.85926	0.0:1.0:0.0:0.0	.	72;72;72;122;72;72	A3KN82;B7ZML2;Q8TEU7-2;E9PCH4;Q8TEU7-3;Q8TEU7	.;.;.;.;.;RPGF6_HUMAN	I	72;72;72;72;72;72;72;122	ENSP00000421684:R72I;ENSP00000309298:R72I;ENSP00000426081:R72I;ENSP00000296859:R72I;ENSP00000311419:R72I;ENSP00000425389:R72I;ENSP00000426948:R122I	ENSP00000426948:R122I	R	-	2	0	RAPGEF6;FNIP1	130956041	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.696000	0.61774	2.317000	0.78254	0.563000	0.77884	AGA		0.348	RAPGEF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000370059.1		NM_016340	
SETD2	29072	hgsc.bcm.edu;ucsc.edu	37	3	47142965	47142965	+	Nonsense_Mutation	SNP	A	A	C			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr3:47142965A>C	ENST00000409792.3	-	8	5040	c.4998T>G	c.(4996-4998)taT>taG	p.Y1666*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1666	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCTGGAACTGATAGTCAAACG	0.378			"""N, F, S, Mis"""		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													165.0	169.0	167.0					3																	47142965		2203	4300	6503	SO:0001587	stop_gained	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.4998T>G	3.37:g.47142965A>C	ENSP00000386759:p.Tyr1666*		O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Nonsense_Mutation	SNP	ENST00000409792.3	37	CCDS2749.2	.	.	.	.	.	.	.	.	.	.	A	45	11.350739	0.99550	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792	.	.	.	5.94	1.11	0.20524	.	0.000000	0.48767	D	0.000170	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	8.6335	0.33933	0.4473:0.0:0.5527:0.0	.	.	.	.	X	1666	.	ENSP00000386759:Y1666X	Y	-	3	2	SETD2	47117969	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.680000	0.54641	0.175000	0.19841	0.528000	0.53228	TAT		0.378	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257479.2		NM_014159	
SMURF2	64750	hgsc.bcm.edu;ucsc.edu	37	17	62542419	62542419	+	Silent	SNP	A	A	T	rs550472832		TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr17:62542419A>T	ENST00000262435.9	-	18	2296	c.2109T>A	c.(2107-2109)atT>atA	p.I703I		NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	703	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TGCAGGCATCAATCTGGTGTA	0.443																																																	0													131.0	111.0	118.0					17																	62542419		2203	4300	6503	SO:0001819	synonymous_variant	64750			AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.2109T>A	17.37:g.62542419A>T			Q52LL1|Q9H260	Silent	SNP	ENST00000262435.9	37	CCDS32707.1																																																																																				0.443	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445227.1		NM_022739	
SPTA1	6708	hgsc.bcm.edu	37	1	158585040	158585040	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr1:158585040T>C	ENST00000368147.4	-	48	6934	c.6754A>G	c.(6754-6756)Atg>Gtg	p.M2252V		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	2252					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTGTGTTGCATCCGCAACCCA	0.537																																																	0													144.0	151.0	149.0					1																	158585040		2134	4253	6387	SO:0001583	missense	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.6754A>G	1.37:g.158585040T>C	ENSP00000357129:p.Met2252Val		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	T	16.42	3.119511	0.56505	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.50001	0.76;0.76	5.54	5.54	0.83059	.	0.199975	0.24901	N	0.034694	T	0.62245	0.2412	M	0.83483	2.645	0.49483	D	0.999791	D	0.55800	0.973	D	0.64237	0.923	T	0.65759	-0.6090	10	0.48119	T	0.1	.	14.6598	0.68861	0.0:0.0:0.0:1.0	.	2252	P02549	SPTA1_HUMAN	V	2252;2249	ENSP00000357130:M2252V;ENSP00000357129:M2249V	ENSP00000357129:M2249V	M	-	1	0	SPTA1	156851664	1.000000	0.71417	0.997000	0.53966	0.781000	0.44180	7.303000	0.78871	2.326000	0.78906	0.533000	0.62120	ATG		0.537	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3		NM_003126	
SS18	6760	hgsc.bcm.edu	37	18	23637608	23637608	+	Silent	SNP	T	T	A			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr18:23637608T>A	ENST00000415083.2	-	4	385	c.330A>T	c.(328-330)gtA>gtT	p.V110V	SS18_ENST00000542743.1_Silent_p.V58V|SS18_ENST00000539849.1_Silent_p.V28V|SS18_ENST00000542420.2_Silent_p.V87V|SS18_ENST00000269137.7_Silent_p.V110V|SS18_ENST00000585241.1_5'UTR|SS18_ENST00000545952.1_Silent_p.V58V	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	110	Transcriptional activation.				cell morphogenesis (GO:0000902)|ephrin receptor signaling pathway (GO:0048013)|intracellular signal transduction (GO:0035556)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to drug (GO:0042493)|transcription, DNA-templated (GO:0006351)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					GACCCCCACCTACCATTCCAT	0.542			T	"""SSX1,  SSX2"""	synovial sarcoma																																			Dom	yes		18	18q11.2	6760	"""synovial sarcoma translocation, chromosome 18"""		M	0													99.0	99.0	99.0					18																	23637608		2203	4300	6503	SO:0001819	synonymous_variant	6760			X79201	CCDS32807.1, CCDS54183.1	18q11.2	2008-07-28				ENSG00000141380			11340	protein-coding gene	gene with protein product		600192		SSXT		8152806, 7951320, 16484776	Standard	XM_005258334		Approved	SYT	uc002kvm.3	Q15532		ENST00000415083.2:c.330A>T	18.37:g.23637608T>A			B0YJ95|Q16404|Q4VAX1|Q9BXC6	Silent	SNP	ENST00000415083.2	37	CCDS32807.1																																																																																				0.542	SS18-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000446226.1			
WDR26	80232	hgsc.bcm.edu;ucsc.edu	37	1	224586648	224586648	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr1:224586648G>T	ENST00000414423.2	-	10	1701	c.1508C>A	c.(1507-1509)tCa>tAa	p.S503*	MIR4742_ENST00000581069.1_RNA|WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000479727.1_5'UTR|WDR26_ENST00000295024.6_Nonsense_Mutation_p.S356*	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	503						cytoplasm (GO:0005737)|nucleus (GO:0005634)				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		GTGTGTATCTGATGCCAGAAC	0.413																																																	0													155.0	138.0	144.0					1																	224586648		2203	4300	6503	SO:0001587	stop_gained	80232			AK024669	CCDS31037.1, CCDS31037.2	1q42.13	2013-01-09			ENSG00000162923	ENSG00000162923		"""WD repeat domain containing"""	21208	protein-coding gene	gene with protein product	"""GID complex subunit 7 homolog (S. cerevisiae)"""						Standard	NM_001115113		Approved	FLJ21016, GID7	uc001hop.4	Q9H7D7	OTTHUMG00000037636	ENST00000414423.2:c.1508C>A	1.37:g.224586648G>T	ENSP00000408108:p.Ser503*		A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Nonsense_Mutation	SNP	ENST00000414423.2	37	CCDS31037.2	.	.	.	.	.	.	.	.	.	.	G	40	8.325504	0.98762	.	.	ENSG00000162923	ENST00000414423;ENST00000295024	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	18.5882	0.91199	0.0:0.0:1.0:0.0	.	.	.	.	X	503;356	.	ENSP00000295024:S356X	S	-	2	0	WDR26	222653271	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.813000	0.99286	2.467000	0.83353	0.655000	0.94253	TCA		0.413	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2		NM_025160	
MSS51	118490	hgsc.bcm.edu	37	10	75186103	75186103	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr10:75186103A>G	ENST00000372912.1	-	4	537	c.535T>C	c.(535-537)Tgg>Cgg	p.W179R	AL353731.1_ENST00000584907.1_RNA|MSS51_ENST00000299432.2_Missense_Mutation_p.W179R			Q4VC12	MSS51_HUMAN	MSS51 mitochondrial translational activator	179					social behavior (GO:0035176)		metal ion binding (GO:0046872)										TCAGGTGGCCATGGCCAAGGT	0.458																																																	0													73.0	76.0	75.0					10																	75186103		2201	4299	6500	SO:0001583	missense	0			AK096884	CCDS31221.1	10q22.3	2013-01-10	2013-01-10	2012-02-24	ENSG00000166343	ENSG00000166343		"""Zinc fingers, MYND-type"""	21000	protein-coding gene	gene with protein product		614773	"""zinc finger, MYND-type containing 17"", ""MSS51 mitochondrial translational activator homolog (S. cerevisiae)"""	ZMYND17		19710419	Standard	NM_001024593		Approved	FLJ39565	uc001jud.3	Q4VC12	OTTHUMG00000018464	ENST00000372912.1:c.535T>C	10.37:g.75186103A>G	ENSP00000362003:p.Trp179Arg		A6NGH6|Q2VP95|Q5F2H5|Q7Z3M9|Q8N8G0	Missense_Mutation	SNP	ENST00000372912.1	37	CCDS31221.1	.	.	.	.	.	.	.	.	.	.	A	1.079	-0.667623	0.03428	.	.	ENSG00000166343	ENST00000299432;ENST00000372912	T;T	0.43294	0.95;0.95	5.1	3.96	0.45880	.	0.326559	0.31301	N	0.007895	T	0.24661	0.0598	L	0.28274	0.84	0.28741	N	0.901946	B	0.14438	0.01	B	0.11329	0.006	T	0.12630	-1.0540	9	.	.	.	1.6176	4.5239	0.11973	0.7398:0.0:0.0904:0.1698	.	179	Q4VC12	ZMY17_HUMAN	R	179	ENSP00000299432:W179R;ENSP00000362003:W179R	.	W	-	1	0	ZMYND17	74856109	0.939000	0.31865	0.942000	0.38095	0.840000	0.47671	0.480000	0.22244	0.958000	0.37956	0.477000	0.44152	TGG		0.458	MSS51-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048652.3		NM_178451	
ZNF275	10838	hgsc.bcm.edu	37	X	152612540	152612540	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chrX:152612540G>T	ENST00000421401.3	+	4	574	c.397G>T	c.(397-399)Gac>Tac	p.D133Y	ZNF275_ENST00000370251.3_Missense_Mutation_p.D133Y|ZNF275_ENST00000440091.1_Missense_Mutation_p.D163Y|ZNF275_ENST00000370249.2_Missense_Mutation_p.D80Y			Q9NSD4	ZN275_HUMAN	zinc finger protein 275	133					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(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGAATGTGGCGACTGCGGGAA	0.577																																																	0													48.0	51.0	50.0					X																	152612540		2109	4200	6309	SO:0001583	missense	10838			BC041602		Xq28	2013-01-08			ENSG00000063587	ENSG00000063587		"""Zinc fingers, C2H2-type"", ""-"""	13069	protein-coding gene	gene with protein product							Standard	NM_001080485		Approved		uc004fhg.2	Q9NSD4	OTTHUMG00000067450	ENST00000421401.3:c.397G>T	X.37:g.152612540G>T	ENSP00000398977:p.Asp133Tyr		A6NE92	Missense_Mutation	SNP	ENST00000421401.3	37		.	.	.	.	.	.	.	.	.	.	G	10.93	1.489723	0.26686	.	.	ENSG00000063587	ENST00000370251;ENST00000421401;ENST00000440091;ENST00000370249	T;T;T;T	0.16597	2.33;2.33;2.33;2.33	4.84	4.84	0.62591	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.45126	D	0.000387	T	0.29620	0.0739	L	0.33753	1.03	0.09310	N	1	D;D	0.67145	0.985;0.996	P;D	0.66847	0.905;0.947	T	0.04509	-1.0946	10	0.87932	D	0	-24.347	14.4763	0.67548	0.0:0.0:1.0:0.0	.	133;133	Q9NSD4;A6NFS0	ZN275_HUMAN;.	Y	133;133;163;80	ENSP00000359271:D133Y;ENSP00000398977:D133Y;ENSP00000411097:D163Y;ENSP00000359269:D80Y	ENSP00000359269:D80Y	D	+	1	0	ZNF275	152265734	0.007000	0.16637	0.041000	0.18516	0.234000	0.25298	1.369000	0.34227	2.386000	0.81285	0.513000	0.50165	GAC		0.577	ZNF275-201	KNOWN	basic	protein_coding	protein_coding			NM_001080485	
ZNF354C	30832	hgsc.bcm.edu	37	5	178506270	178506270	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-4790-01A-01D-1373-10	TCGA-BP-4790-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			SOLID	b0221c6f-dbe6-4a2c-849d-0f554e107d5d	697e3e79-1b90-497a-b917-0ed7883f7ac6	g.chr5:178506270G>T	ENST00000315475.6	+	5	1143	c.837G>T	c.(835-837)aaG>aaT	p.K279N		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	279					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		AATGTGAGAAGGCATTTAGCA	0.408																																																	0													98.0	97.0	97.0					5																	178506270		2203	4300	6503	SO:0001583	missense	30832				CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.837G>T	5.37:g.178506270G>T	ENSP00000324064:p.Lys279Asn		Q6P4P9|Q8NFX1	Missense_Mutation	SNP	ENST00000315475.6	37	CCDS4443.1	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301117	0.40694	.	.	ENSG00000177932	ENST00000315475	T	0.07908	3.15	3.8	-1.7	0.08159	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29976	0.0750	M	0.91972	3.26	0.31054	N	0.714862	D	0.89917	1.0	D	0.78314	0.991	T	0.18777	-1.0326	9	0.62326	D	0.03	-19.281	8.0971	0.30835	0.6088:0.0:0.3912:0.0	.	279	Q86Y25	Z354C_HUMAN	N	279	ENSP00000324064:K279N	ENSP00000324064:K279N	K	+	3	2	ZNF354C	178438876	0.237000	0.23815	0.913000	0.36048	0.640000	0.38277	0.889000	0.28282	-0.400000	0.07656	-0.312000	0.09012	AAG		0.408	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253473.2			
