#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_Chromosome_hg18	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_End_position_hg18	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_Start_position_hg18	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_refseq_mrna_id	i_secondary_variant_classification
FIGNL1	63979	hgsc.bcm.edu	37	7	50514773	50514773	+	Silent	SNP	A	A	G			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr7:50514773A>G	ENST00000419119.1	-	2	1766	c.213T>C	c.(211-213)gaT>gaC	p.D71D	FIGNL1_ENST00000433017.1_Silent_p.D71D|FIGNL1_ENST00000395556.2_Silent_p.D71D|FIGNL1_ENST00000435566.1_Intron|FIGNL1_ENST00000356889.4_Silent_p.D71D			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	71					ATP metabolic process (GO:0046034)|cellular response to ionizing radiation (GO:0071479)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|osteoblast differentiation (GO:0001649)|osteoblast proliferation (GO:0033687)|regulation of cell cycle (GO:0051726)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|magnesium ion binding (GO:0000287)			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				CATTGTCAGAATCAATAATTG	0.368																																																	0			7											86.0	82.0	84.0					7																	50514773		2203	4300	6503	50482267	SO:0001819	synonymous_variant	63979			AK023142	CCDS5510.1	7p12.2	2010-04-21			ENSG00000132436	ENSG00000132436		"""ATPases / AAA-type"""	13286	protein-coding gene	gene with protein product		615383					Standard	XM_005271783		Approved		uc003tpc.3	Q6PIW4	OTTHUMG00000022866	ENST00000419119.1:c.213T>C	7.37:g.50514773A>G			50482267	D3DVM6|Q86V18|Q8ND59|Q9H8P1|Q9H917	Silent	SNP	ENST00000419119.1	37	CCDS5510.1																																																																																				0.368	FIGNL1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342579.1	NM_001042762	
CROT	54677	hgsc.bcm.edu	37	7	86986858	86986858	+	Intron	SNP	C	C	T			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr7:86986858C>T	ENST00000331536.3	+	4	300				CROT_ENST00000419147.2_Missense_Mutation_p.P51S|CROT_ENST00000442291.1_Intron|CROT_ENST00000412227.2_Intron	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase						carnitine metabolic process (GO:0009437)|cellular lipid metabolic process (GO:0044255)|coenzyme A metabolic process (GO:0015936)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|fatty acid metabolic process (GO:0006631)|fatty acid transport (GO:0015908)|generation of precursor metabolites and energy (GO:0006091)|medium-chain fatty acid metabolic process (GO:0051791)|small molecule metabolic process (GO:0044281)	intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-octanoyltransferase activity (GO:0008458)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	gggtcttgatccagatgctaa	0.478																																																	0			7											155.0	131.0	138.0					7																	86986858		692	1591	2283	86824794	SO:0001627	intron_variant	54677				CCDS5604.1, CCDS47634.1, CCDS59062.1	7q21.1	2010-02-26			ENSG00000005469	ENSG00000005469			2366	protein-coding gene	gene with protein product		606090				10486279	Standard	NM_021151		Approved	COT	uc003uit.3	Q9UKG9	OTTHUMG00000023653	ENST00000331536.3:c.116-1664C>T	7.37:g.86986858C>T			86824794	A4D1D6|E7EQF2|Q86V17|Q8IUW9|Q9Y6I2	Missense_Mutation	SNP	ENST00000331536.3	37	CCDS5604.1	.	.	.	.	.	.	.	.	.	.	C	5.823	0.336153	0.11013	.	.	ENSG00000005469	ENST00000419147	D	0.83506	-1.73	0.235	0.235	0.15431	.	.	.	.	.	T	0.69351	0.3101	N	0.03608	-0.345	0.09310	N	1	P	0.48350	0.909	P	0.50440	0.641	T	0.61826	-0.6983	8	0.62326	D	0.03	.	.	.	.	.	51	E7EQF2	.	S	51	ENSP00000413575:P51S	ENSP00000413575:P51S	P	+	1	0	CROT	86824794	0.082000	0.21442	0.052000	0.19188	0.052000	0.14988	0.305000	0.19254	0.308000	0.22923	0.313000	0.20887	CCA		0.478	CROT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253485.1	NM_021151	
SAMD9L	219285	hgsc.bcm.edu	37	7	92762907	92762907	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr7:92762907T>C	ENST00000318238.4	-	5	3594	c.2378A>G	c.(2377-2379)cAg>cGg	p.Q793R	SAMD9L_ENST00000411955.1_Missense_Mutation_p.Q793R|SAMD9L_ENST00000437805.1_Missense_Mutation_p.Q793R	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	793					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AATGTAATCCTGATGGCTCTT	0.378																																																	0			7											112.0	108.0	109.0					7																	92762907		2203	4300	6503	92600843	SO:0001583	missense	219285			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.2378A>G	7.37:g.92762907T>C	ENSP00000326247:p.Gln793Arg		92600843	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Missense_Mutation	SNP	ENST00000318238.4	37	CCDS34681.1	.	.	.	.	.	.	.	.	.	.	T	3.937	-0.014951	0.07681	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	T;T;T	0.80393	-1.37;-1.37;-1.37	4.77	3.6	0.41247	.	1.265160	0.05623	N	0.580253	T	0.71031	0.3292	L	0.48642	1.525	0.09310	N	1	P	0.38504	0.634	B	0.33521	0.165	T	0.60924	-0.7166	10	0.40728	T	0.16	-0.7688	1.3328	0.02138	0.3266:0.086:0.1537:0.4337	.	793	Q8IVG5	SAM9L_HUMAN	R	793	ENSP00000326247:Q793R;ENSP00000405760:Q793R;ENSP00000408796:Q793R	ENSP00000326247:Q793R	Q	-	2	0	SAMD9L	92600843	0.000000	0.05858	0.372000	0.25991	0.826000	0.46750	0.433000	0.21477	0.831000	0.34780	0.383000	0.25322	CAG		0.378	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703	
SMOX	54498	hgsc.bcm.edu	37	20	4163144	4163144	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr20:4163144C>T	ENST00000305958.4	+	5	1243	c.1018C>T	c.(1018-1020)Cag>Tag	p.Q340*	SMOX_ENST00000379460.2_Nonsense_Mutation_p.Q340*|SMOX_ENST00000339123.6_Nonsense_Mutation_p.Q287*|SMOX_ENST00000278795.3_Nonsense_Mutation_p.Q287*|SMOX_ENST00000346595.2_Intron	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	340			Q -> K (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular nitrogen compound metabolic process (GO:0034641)|oxidation-reduction process (GO:0055114)|polyamine biosynthetic process (GO:0006596)|polyamine catabolic process (GO:0006598)|polyamine metabolic process (GO:0006595)|small molecule metabolic process (GO:0044281)|spermine catabolic process (GO:0046208)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	N1-acetylspermine:oxygen oxidoreductase (N1-acetylspermidine-forming) activity (GO:0052895)|norspermine:oxygen oxidoreductase activity (GO:0052894)|polyamine oxidase activity (GO:0046592)|spermine:oxygen oxidoreductase (spermidine-forming) activity (GO:0052901)	p.Q340K(1)		breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	GCTAAAGAGGCAGTACACCAG	0.587																																																	1	Substitution - Missense(1)	breast(1)	20											94.0	85.0	88.0					20																	4163144		2203	4300	6503	4111144	SO:0001587	stop_gained	54498			AK000753	CCDS13075.1, CCDS13076.1, CCDS13077.1, CCDS13078.1, CCDS74702.1	20p13	2003-10-15	2003-10-15	2003-10-15	ENSG00000088826	ENSG00000088826			15862	protein-coding gene	gene with protein product		615854	"""chromosome 20 open reading frame 16"""	C20orf16		11454677, 12398765	Standard	NM_175839		Approved	FLJ20746, dJ779E11.1, PAO, PAOh1, MGC1010, SMO	uc002wkp.3	Q9NWM0	OTTHUMG00000031777	ENST00000305958.4:c.1018C>T	20.37:g.4163144C>T	ENSP00000307252:p.Gln340*		4111144	A2A2P5|A2A2P6|A8BE87|D3DVZ4|Q5TE26|Q5TE27|Q6UY28|Q8IX00|Q96LC3|Q96LC4|Q96QT3|Q9BW38|Q9H6H1|Q9NP51|Q9NPY1|Q9NPY2	Nonsense_Mutation	SNP	ENST00000305958.4	37	CCDS13075.1	.	.	.	.	.	.	.	.	.	.	C	37	6.609998	0.97705	.	.	ENSG00000088826	ENST00000339123;ENST00000305958;ENST00000278795;ENST00000379460;ENST00000457205	.	.	.	5.37	4.42	0.53409	.	0.458821	0.27076	N	0.021046	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-20.8228	7.2969	0.26397	0.0:0.8184:0.0:0.1816	.	.	.	.	X	287;340;287;340;197	.	ENSP00000278795:Q287X	Q	+	1	0	SMOX	4111144	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	1.091000	0.30915	2.533000	0.85409	0.558000	0.71614	CAG		0.587	SMOX-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077806.1	NM_175842	
BPIFC	254240	hgsc.bcm.edu	37	22	32828529	32828529	+	Splice_Site	SNP	A	A	G			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr22:32828529A>G	ENST00000397452.1	-	11	1090	c.980T>C	c.(979-981)aTt>aCt	p.I327T	BPIFC_ENST00000300399.3_Splice_Site_p.I327T|BPIFC_ENST00000534972.1_Splice_Site_p.I51T|BPIFC_ENST00000432451.2_Intron			Q8NFQ6	BPIFC_HUMAN	BPI fold containing family C	327						extracellular region (GO:0005576)	lipopolysaccharide binding (GO:0001530)|phospholipid binding (GO:0005543)										GATCTCTGCAATCTGCCCACA	0.473																																																	0			22											166.0	156.0	160.0					22																	32828529		2203	4300	6503	31158529	SO:0001630	splice_region_variant	254240			AF465766	CCDS13906.1	22q12.3	2011-08-04	2011-08-01	2011-08-01	ENSG00000184459	ENSG00000184459		"""BPI fold containing"""	16503	protein-coding gene	gene with protein product		614109	"""bactericidal/permeability-increasing protein-like 2"""	BPIL2			Standard	NM_174932		Approved	dJ149A16.7	uc003amn.2	Q8NFQ6	OTTHUMG00000058273	ENST00000397452.1:c.979-1T>C	22.37:g.32828529A>G			31158529	A2RRF1	Missense_Mutation	SNP	ENST00000397452.1	37	CCDS13906.1	.	.	.	.	.	.	.	.	.	.	A	16.91	3.253221	0.59212	.	.	ENSG00000184459	ENST00000397452;ENST00000300399;ENST00000534972	T;T;T	0.10192	2.9;2.9;2.9	6.07	6.07	0.98685	.	0.145674	0.64402	D	0.000016	T	0.33411	0.0862	M	0.84219	2.685	0.44587	D	0.997556	D	0.56968	0.978	P	0.60473	0.875	T	0.08994	-1.0695	10	0.72032	D	0.01	-9.7689	14.1509	0.65384	1.0:0.0:0.0:0.0	.	327	Q8NFQ6	BPIFC_HUMAN	T	327;327;51	ENSP00000380594:I327T;ENSP00000300399:I327T;ENSP00000439123:I51T	ENSP00000300399:I327T	I	-	2	0	BPIFC	31158529	1.000000	0.71417	0.990000	0.47175	0.268000	0.26511	4.779000	0.62375	2.330000	0.79161	0.528000	0.53228	ATT		0.473	BPIFC-010	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129029.2	NM_174932	Missense_Mutation
OR4Q3	441669	hgsc.bcm.edu	37	14	20215706	20215706	+	Silent	SNP	G	G	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr14:20215706G>A	ENST00000331723.1	+	1	120	c.120G>A	c.(118-120)ctG>ctA	p.L40L		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.L40L(3)		NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTATTGTCCTGGGAAACCTCT	0.398																																																	3	Substitution - coding silent(3)	breast(3)	14																																								19285546	SO:0001819	synonymous_variant	441669			AF179768	CCDS32020.1	14p13	2012-08-09				ENSG00000182652		"""GPCR / Class A : Olfactory receptors"""	15426	protein-coding gene	gene with protein product				OR4Q4			Standard	NM_172194		Approved	C14orf13	uc010tkt.2	Q8NH05		ENST00000331723.1:c.120G>A	14.37:g.20215706G>A			19285546	Q6IEX4	Silent	SNP	ENST00000331723.1	37	CCDS32020.1																																																																																				0.398	OR4Q3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409818.2		
OR4K13	390433	hgsc.bcm.edu	37	14	20502056	20502056	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr14:20502056T>C	ENST00000315693.2	-	1	863	c.862A>G	c.(862-864)Aca>Gca	p.T288A	AL359218.1_ENST00000580563.1_RNA	NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	288						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		TTTCTTAATGTATAAATAATA	0.318																																																	0			14											18.0	20.0	20.0					14																	20502056		2198	4295	6493	19571896	SO:0001583	missense	390433				CCDS32028.1	14q11.2	2013-09-23			ENSG00000176253	ENSG00000176253		"""GPCR / Class A : Olfactory receptors"""	15351	protein-coding gene	gene with protein product							Standard	NM_001004714		Approved		uc010tkz.2	Q8NH42	OTTHUMG00000170781	ENST00000315693.2:c.862A>G	14.37:g.20502056T>C	ENSP00000319322:p.Thr288Ala		19571896	Q6IF13	Missense_Mutation	SNP	ENST00000315693.2	37	CCDS32028.1	.	.	.	.	.	.	.	.	.	.	.	9.547	1.114901	0.20795	.	.	ENSG00000176253	ENST00000315693	T	0.35605	1.3	3.61	3.61	0.41365	.	0.000000	0.40144	U	0.001163	T	0.46444	0.1393	M	0.91196	3.185	0.22771	N	0.998751	P	0.35192	0.489	B	0.34138	0.176	T	0.53788	-0.8389	10	0.87932	D	0	.	11.3118	0.49368	0.0:0.0:0.0:1.0	.	288	Q8NH42	OR4KD_HUMAN	A	288	ENSP00000319322:T288A	ENSP00000319322:T288A	T	-	1	0	OR4K13	19571896	0.097000	0.21791	0.665000	0.29768	0.022000	0.10575	0.573000	0.23699	1.509000	0.48786	0.421000	0.28195	ACA		0.318	OR4K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410344.1		
ACIN1	22985	hgsc.bcm.edu	37	14	23559778	23559778	+	Missense_Mutation	SNP	A	A	C			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr14:23559778A>C	ENST00000262710.1	-	3	770	c.443T>G	c.(442-444)cTt>cGt	p.L148R	ACIN1_ENST00000555053.1_Missense_Mutation_p.L148R|ACIN1_ENST00000605057.1_Missense_Mutation_p.L90R|ACIN1_ENST00000457657.1_Missense_Mutation_p.L148R	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	148	Glu-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		ACGCTGCCTAAGTAGCTCCTG	0.443																																																	0			14											91.0	86.0	88.0					14																	23559778		2203	4300	6503	22629618	SO:0001583	missense	22985			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.443T>G	14.37:g.23559778A>C	ENSP00000262710:p.Leu148Arg		22629618	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.330203	0.81690	.	.	ENSG00000100813	ENST00000262710;ENST00000457657;ENST00000555053	T;T;T	0.52983	0.65;1.54;0.64	5.24	5.24	0.73138	.	0.000000	0.34314	N	0.004078	T	0.62732	0.2452	L	0.54323	1.7	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	T	0.60662	-0.7219	10	0.34782	T	0.22	-6.4157	14.1256	0.65217	1.0:0.0:0.0:0.0	.	148;148	G3V3M7;Q9UKV3	.;ACINU_HUMAN	R	148	ENSP00000262710:L148R;ENSP00000405677:L148R;ENSP00000451328:L148R	ENSP00000262710:L148R	L	-	2	0	ACIN1	22629618	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.081000	0.89511	1.999000	0.58509	0.533000	0.62120	CTT		0.443	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977	
RIPK3	11035	hgsc.bcm.edu	37	14	24806435	24806435	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr14:24806435G>A	ENST00000216274.5	-	8	1350	c.1132C>T	c.(1132-1134)Cag>Tag	p.Q378*	RP11-934B9.3_ENST00000555591.1_Nonsense_Mutation_p.Q52*|RIPK3_ENST00000554338.1_5'Flank|ADCY4_ENST00000396747.3_5'Flank|ADCY4_ENST00000418030.2_5'Flank|ADCY4_ENST00000310677.4_5'Flank|ADCY4_ENST00000554068.2_5'Flank|ADCY4_ENST00000558563.1_5'Flank	NM_006871.3	NP_006862.2	Q9Y572	RIPK3_HUMAN	receptor-interacting serine-threonine kinase 3	378	Pro-rich.				activation of protein kinase activity (GO:0032147)|amyloid fibril formation (GO:1990000)|apoptotic signaling pathway (GO:0097190)|cellular protein modification process (GO:0006464)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|lymph node development (GO:0048535)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|necroptotic process (GO:0070266)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of ligase activity (GO:0051351)|positive regulation of necroptotic process (GO:0060545)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phosphatase activity (GO:0010922)|positive regulation of protein deacetylation (GO:0090312)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of type I interferon production (GO:0032481)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|regulation of activated T cell proliferation (GO:0046006)|regulation of activation-induced cell death of T cells (GO:0070235)|regulation of adaptive immune response (GO:0002819)|regulation of CD8-positive, alpha-beta cytotoxic T cell extravasation (GO:2000452)|regulation of interferon-gamma production (GO:0032649)|regulation of T cell mediated cytotoxicity (GO:0001914)|signal transduction (GO:0007165)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|T cell homeostasis (GO:0043029)|thymus development (GO:0048538)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|ripoptosome (GO:0097342)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|NF-kappaB-inducing kinase activity (GO:0004704)|protein complex binding (GO:0032403)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		TGTGGAACCTGCTCCTCTTGT	0.537																																					Pancreas(58;918 1191 4668 13304 15331)												0			14											160.0	158.0	159.0					14																	24806435		2203	4300	6503	23876275	SO:0001587	stop_gained	11035			AF156884	CCDS9628.1	14q12	2006-05-15			ENSG00000129465	ENSG00000129465			10021	protein-coding gene	gene with protein product		605817				10339433, 10358032	Standard	NM_006871		Approved	RIP3	uc001wpb.3	Q9Y572	OTTHUMG00000029349	ENST00000216274.5:c.1132C>T	14.37:g.24806435G>A	ENSP00000216274:p.Gln378*		23876275	B4DJL9|C4AM87|Q5J795|Q5J796|Q6P5Y1	Nonsense_Mutation	SNP	ENST00000216274.5	37	CCDS9628.1	.	.	.	.	.	.	.	.	.	.	G	14.23	2.474280	0.43942	.	.	ENSG00000258973;ENSG00000129465	ENST00000555591;ENST00000216274	.	.	.	4.58	1.6	0.23607	.	1.285430	0.05366	N	0.534583	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.668	4.8194	0.13383	0.1046:0.0:0.4861:0.4093	.	.	.	.	X	52;378	.	ENSP00000216274:Q378X	Q	-	1	0	RIPK3;RP11-934B9.3	23876275	0.001000	0.12720	0.000000	0.03702	0.152000	0.21847	0.911000	0.28584	0.353000	0.24079	0.655000	0.94253	CAG		0.537	RIPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073203.4	NM_006871	
NOVA1	4857	hgsc.bcm.edu	37	14	26917922	26917922	+	Missense_Mutation	SNP	G	G	T	rs267603974		TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr14:26917922G>T	ENST00000539517.2	-	5	1084	c.767C>A	c.(766-768)gCc>gAc	p.A256D	NOVA1_ENST00000465357.2_Missense_Mutation_p.A232D|NOVA1_ENST00000267422.7_Missense_Mutation_p.A134D	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	259					locomotory behavior (GO:0007626)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA metabolic process (GO:0051252)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.A256D(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		TGTCACATTGGCATAACTGAT	0.458																																																	1	Substitution - Missense(1)	skin(1)	14											200.0	179.0	186.0					14																	26917922		2203	4300	6503	25987762	SO:0001583	missense	4857			U04840	CCDS9635.1, CCDS32060.1, CCDS32061.1	14q12	2006-06-09			ENSG00000139910	ENSG00000139910			7886	protein-coding gene	gene with protein product		602157				8558240	Standard	NM_006489		Approved		uc001wpy.3	P51513	OTTHUMG00000029385	ENST00000539517.2:c.767C>A	14.37:g.26917922G>T	ENSP00000438875:p.Ala256Asp		25987762	A8K0S4|A8K4Q7|D3DS81|D3DS82|Q6B004	Missense_Mutation	SNP	ENST00000539517.2	37	CCDS32061.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.645349	0.67358	.	.	ENSG00000139910	ENST00000465357;ENST00000539517;ENST00000267422;ENST00000449198	T;T;T;T	0.35605	1.36;1.3;1.32;1.39	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.49915	0.1585	L	0.52905	1.665	0.80722	D	1	D;B;P	0.63046	0.992;0.281;0.557	P;B;B	0.55545	0.778;0.027;0.06	T	0.21415	-1.0246	10	0.21540	T	0.41	-0.0673	19.8956	0.96956	0.0:0.0:1.0:0.0	.	259;232;256	P51513;D3DS81;P51513-4	NOVA1_HUMAN;.;.	D	232;256;134;215	ENSP00000447391:A232D;ENSP00000438875:A256D;ENSP00000267422:A134D;ENSP00000408914:A215D	ENSP00000267422:A134D	A	-	2	0	NOVA1	25987762	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.833000	0.86765	2.708000	0.92522	0.563000	0.77884	GCC		0.458	NOVA1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000073261.3	NM_006491	
BAZ1A	11177	hgsc.bcm.edu	37	14	35295263	35295263	+	Silent	SNP	A	A	G			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr14:35295263A>G	ENST00000382422.2	-	3	819	c.492T>C	c.(490-492)agT>agC	p.S164S	BAZ1A_ENST00000553853.1_5'Flank|BAZ1A_ENST00000358716.4_Silent_p.S164S|BAZ1A_ENST00000360310.1_Silent_p.S164S			Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	164					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	ACF complex (GO:0016590)|CHRAC (GO:0008623)|nuclear chromosome (GO:0000228)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		CATCACTATCACTGATGATAA	0.343																																																	0			14											88.0	72.0	77.0					14																	35295263		2203	4300	6503	34365014	SO:0001819	synonymous_variant	11177			AB032252	CCDS9651.1, CCDS41943.1	14q13.2	2013-01-28			ENSG00000198604	ENSG00000198604		"""Zinc fingers, PHD-type"""	960	protein-coding gene	gene with protein product		605680				10662543	Standard	NM_013448		Approved	hACF1, ACF1, WALp1, WCRF180	uc001wsk.3	Q9NRL2	OTTHUMG00000140216	ENST00000382422.2:c.492T>C	14.37:g.35295263A>G			34365014	Q9NZ15|Q9P065|Q9UIG1|Q9Y3V3	Silent	SNP	ENST00000382422.2	37	CCDS9651.1																																																																																				0.343	BAZ1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276646.1		
SYNE2	23224	hgsc.bcm.edu	37	14	64457275	64457275	+	Silent	SNP	A	A	G			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr14:64457275A>G	ENST00000344113.4	+	20	2672	c.2460A>G	c.(2458-2460)aaA>aaG	p.K820K	SYNE2_ENST00000358025.3_Silent_p.K820K|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.K820K	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	820					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)	p.K820K(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AAGAAGCTAAAGAGAAAGTCC	0.413																																																	1	Substitution - coding silent(1)	ovary(1)	14											90.0	87.0	88.0					14																	64457275		1830	4085	5915	63527028	SO:0001819	synonymous_variant	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.2460A>G	14.37:g.64457275A>G			63527028	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	ENST00000344113.4	37	CCDS41963.1																																																																																				0.413	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276994.2	NM_182914	
CATSPERB	79820	hgsc.bcm.edu	37	14	92047342	92047342	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr14:92047342T>C	ENST00000256343.3	-	27	3398	c.3242A>G	c.(3241-3243)cAa>cGa	p.Q1081R		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	1081					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				ATGGATGCCTTGCAGTTGAAA	0.438																																																	0			14											120.0	109.0	113.0					14																	92047342		2203	4300	6503	91117095	SO:0001583	missense	79820			AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.3242A>G	14.37:g.92047342T>C	ENSP00000256343:p.Gln1081Arg		91117095	A0AV51	Missense_Mutation	SNP	ENST00000256343.3	37	CCDS32142.1	.	.	.	.	.	.	.	.	.	.	T	0.325	-0.959480	0.02267	.	.	ENSG00000133962	ENST00000256343	T	0.40476	1.03	5.63	-7.98	0.01135	.	0.893008	0.09568	N	0.784563	T	0.10380	0.0254	N	0.00621	-1.32	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.43734	-0.9373	10	0.13108	T	0.6	-0.4751	10.5076	0.44842	0.0949:0.2424:0.0:0.6626	.	1081	Q9H7T0	CTSRB_HUMAN	R	1081	ENSP00000256343:Q1081R	ENSP00000256343:Q1081R	Q	-	2	0	CATSPERB	91117095	0.000000	0.05858	0.002000	0.10522	0.000000	0.00434	-1.651000	0.01989	-1.237000	0.02539	-1.239000	0.01543	CAA		0.438	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411769.1	NM_024764	
SERPINA3	12	hgsc.bcm.edu	37	14	95090100	95090100	+	Silent	SNP	C	C	T	rs376051867		TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr14:95090100C>T	ENST00000467132.1	+	5	2369	c.1221C>T	c.(1219-1221)gaC>gaT	p.D407D	RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393078.3_Silent_p.D407D|SERPINA3_ENST00000393080.4_Silent_p.D407D|SERPINA3_ENST00000482740.1_Silent_p.D189D			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	407			D -> G (in dbSNP:rs10956).		acute-phase response (GO:0006953)|inflammatory response (GO:0006954)|maintenance of gastrointestinal epithelium (GO:0030277)|negative regulation of endopeptidase activity (GO:0010951)|regulation of lipid metabolic process (GO:0019216)|regulation of proteolysis (GO:0030162)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleus (GO:0005634)	DNA binding (GO:0003677)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TCCCTACAGACACCCAGAACA	0.493																																																	0			14											195.0	170.0	178.0					14																	95090100		2203	4300	6503	94159853	SO:0001819	synonymous_variant	12			K01500	CCDS32150.1	14q32.1	2014-06-03	2005-08-18		ENSG00000196136	ENSG00000196136		"""Serine (or cysteine) peptidase inhibitors"""	16	protein-coding gene	gene with protein product		107280	"""alpha-1-antichymotrypsin"", ""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3"""	AACT		3260956, 24172014	Standard	NM_001085		Approved	ACT, alpha-1-antichymotrypsin	uc001ydp.3	P01011	OTTHUMG00000029851	ENST00000467132.1:c.1221C>T	14.37:g.95090100C>T			94159853	B3KVQ7|Q13703|Q2TU87|Q2TU88|Q59GP9|Q6LBY8|Q6LDT7|Q6NSC9|Q8N177|Q96DW8|Q9UC47|Q9UNU9	Silent	SNP	ENST00000467132.1	37	CCDS32150.1																																																																																				0.493	SERPINA3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268080.3	NM_001085	
FZR1	51343	hgsc.bcm.edu	37	19	3527642	3527642	+	Missense_Mutation	SNP	C	C	T	rs200022187		TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr19:3527642C>T	ENST00000395095.3	+	6	484	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W	FZR1_ENST00000313639.8_Intron|FZR1_ENST00000441788.2_Missense_Mutation_p.R162W	NM_001136198.1	NP_001129670.1	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	162					activation of anaphase-promoting complex activity (GO:0051488)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|DNA repair (GO:0006281)|G2 DNA damage checkpoint (GO:0031572)|lens fiber cell differentiation (GO:0070306)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of cell aging (GO:0090344)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of meiosis (GO:0040020)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGCTGCTCCGGTCCCCCCG	0.627													C|||	1	0.000199681	0.0	0.0014	5008	,	,		16449	0.0		0.0	False		,,,				2504	0.0																0			19											47.0	42.0	44.0					19																	3527642		2198	4296	6494	3478642	SO:0001583	missense	51343			AF083810	CCDS12109.1, CCDS45916.1, CCDS45917.1	19p13.3	2013-01-10				ENSG00000105325		"""WD repeat domain containing"""	24824	protein-coding gene	gene with protein product		603619				9734353, 11003657	Standard	NM_016263		Approved	HCDH1, CDH1, HCDH, FZR, FZR2, KIAA1242, CDC20C	uc010dtk.2	Q9UM11		ENST00000395095.3:c.484C>T	19.37:g.3527642C>T	ENSP00000378529:p.Arg162Trp		3478642	O75869|Q86U66|Q96NW8|Q9UI96|Q9ULH8|Q9UM10|Q9UNQ1|Q9Y2T8	Missense_Mutation	SNP	ENST00000395095.3	37	CCDS45916.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	19.80	3.895191	0.72639	.	.	ENSG00000105325	ENST00000441788;ENST00000395095	T;T	0.29142	1.58;1.58	5.14	4.1	0.47936	WD40 repeat-like-containing domain (1);	0.053128	0.64402	D	0.000001	T	0.51312	0.1667	M	0.76838	2.35	0.80722	D	1	D;D	0.76494	0.997;0.999	P;D	0.64595	0.676;0.927	T	0.50964	-0.8765	10	0.37606	T	0.19	-47.6071	11.5059	0.50466	0.3471:0.6529:0.0:0.0	.	162;162	Q9UM11;Q9UM11-2	FZR_HUMAN;.	W	162	ENSP00000410369:R162W;ENSP00000378529:R162W	ENSP00000378529:R162W	R	+	1	2	FZR1	3478642	1.000000	0.71417	0.991000	0.47740	0.949000	0.60115	2.604000	0.46274	1.106000	0.41623	0.655000	0.94253	CGG		0.627	FZR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000452869.2	NM_016263	
KDM4B	23030	hgsc.bcm.edu	37	19	5047543	5047543	+	Silent	SNP	C	C	T			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr19:5047543C>T	ENST00000159111.4	+	6	707	c.489C>T	c.(487-489)cgC>cgT	p.R163R	KDM4B_ENST00000592175.1_3'UTR|KDM4B_ENST00000381759.4_Silent_p.R163R|KDM4B_ENST00000536461.1_Silent_p.R163R	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	163	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TGGTGGAGCGCGAGTGCGGCA	0.662																																																	0			19											104.0	83.0	90.0					19																	5047543		2203	4300	6503	4998543	SO:0001819	synonymous_variant	23030			AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.489C>T	19.37:g.5047543C>T			4998543	B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Silent	SNP	ENST00000159111.4	37	CCDS12138.1																																																																																				0.662	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450558.1	NM_015015	
MUC16	94025	hgsc.bcm.edu	37	19	9087386	9087386	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr19:9087386A>G	ENST00000397910.4	-	1	4632	c.4429T>C	c.(4429-4431)Tca>Cca	p.S1477P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1477	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						CTTGGACTTGAAATATCAAGG	0.463																																																	0			19											146.0	143.0	144.0					19																	9087386		1942	4141	6083	8948386	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.4429T>C	19.37:g.9087386A>G	ENSP00000381008:p.Ser1477Pro		8948386	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	4.619	0.114990	0.08831	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	1.01	1.01	0.19927	.	.	.	.	.	T	0.03739	0.0106	N	0.08118	0	.	.	.	D	0.62365	0.991	D	0.65323	0.934	T	0.43491	-0.9388	8	0.87932	D	0	.	4.2429	0.10658	1.0:0.0:0.0:0.0	.	1477	B5ME49	.	P	1477	ENSP00000381008:S1477P	ENSP00000381008:S1477P	S	-	1	0	MUC16	8948386	0.004000	0.15560	0.050000	0.19076	0.294000	0.27393	0.287000	0.18920	0.708000	0.31955	0.260000	0.18958	TCA		0.463	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
PSG5	5673	hgsc.bcm.edu	37	19	43690506	43690506	+	Missense_Mutation	SNP	G	G	C	rs8107936	byFrequency	TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr19:43690506G>C	ENST00000366175.3	-	1	182	c.52C>G	c.(52-54)Ctc>Gtc	p.L18V	PSG5_ENST00000407568.1_Missense_Mutation_p.L18V|PSG5_ENST00000404580.1_Missense_Mutation_p.L18V|PSG5_ENST00000342951.6_Missense_Mutation_p.L18V|PSG5_ENST00000599812.1_Missense_Mutation_p.L18V|PSG5_ENST00000407356.1_Missense_Mutation_p.L18V|PSG5_ENST00000401992.1_5'UTR			Q15238	PSG5_HUMAN	pregnancy specific beta-1-glycoprotein 5	18			L -> V (in dbSNP:rs8107936). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:1922019, ECO:0000269|PubMed:2735907, ECO:0000269|PubMed:2789512}.		female pregnancy (GO:0007565)	extracellular region (GO:0005576)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GTGAGCAGGAGCCCCTTCCAG	0.582													G|||	3659	0.730631	0.7481	0.5749	5008	,	,		18212	0.9762		0.6123	False		,,,				2504	0.6861																0			19						G	VAL/LEU,VAL/LEU	3185,1221		1179,827,197	91.0	91.0	91.0		52,52	0.3	0.0	19	dbSNP_116	91	5160,3426		1603,1954,736	no	missense,missense	PSG5	NM_001130014.1,NM_002781.3	32,32	2782,2781,933	CC,CG,GG		39.9022,27.7122,35.7682	benign,benign	18/336,18/336	43690506	8345,4647	2203	4293	6496	48382346	SO:0001583	missense	5673				CCDS12617.1	19q13.2	2013-01-29			ENSG00000204941	ENSG00000204941		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9522	protein-coding gene	gene with protein product	"""pregnancy-specific beta-1 glycoprotein"", ""pregnancy-specific beta 1 glycoprotein"""	176394				2735907	Standard	NM_002781		Approved	FL-NCA-3, PSG	uc002ovx.3	Q15238	OTTHUMG00000151539	ENST00000366175.3:c.52C>G	19.37:g.43690506G>C	ENSP00000382334:p.Leu18Val		48382346	Q15239|Q96QJ1|Q9UQ75	Missense_Mutation	SNP	ENST00000366175.3	37	CCDS12617.1	1393	0.6378205128205128	289	0.5873983739837398	177	0.4889502762430939	518	0.9055944055944056	409	0.5395778364116095	N	3.655	-0.070693	0.07228	0.722878	0.600978	ENSG00000204941	ENST00000366175;ENST00000407356;ENST00000407568;ENST00000342951;ENST00000404580;ENST00000401992	T;T;T;T;T	0.01665	5.01;5.01;4.7;5.01;4.99	1.41	0.325	0.15903	.	.	.	.	.	T	0.00012	0.0000	L	0.33753	1.03	0.80722	P	0.0	B;B	0.29671	0.254;0.14	B;B	0.43575	0.424;0.35	T	0.02639	-1.1130	8	0.49607	T	0.09	.	3.7117	0.08423	0.2559:0.0:0.7441:0.0	rs8107936;rs11549987;rs17856401;rs59769041	18;18	E9PC55;Q15238	.;PSG5_HUMAN	V	18	ENSP00000382334:L18V;ENSP00000386008:L18V;ENSP00000386053:L18V;ENSP00000344413:L18V;ENSP00000385250:L18V	ENSP00000344413:L18V	L	-	1	0	PSG5	48382346	0.117000	0.22190	0.003000	0.11579	0.030000	0.12068	0.008000	0.13197	0.166000	0.19597	0.184000	0.17185	CTC		0.582	PSG5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000323055.1	NM_002781	
VSIG10L	147645	hgsc.bcm.edu	37	19	51837453	51837453	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr19:51837453C>T	ENST00000335624.4	-	8	2410	c.2411G>A	c.(2410-2412)cGc>cAc	p.R804H		NM_001163922.1	NP_001157394.1	Q86VR7	VS10L_HUMAN	V-set and immunoglobulin domain containing 10 like	804						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(1)	4						ACCACGAAAGCGGCACAGGCA	0.622																																																	0			19											37.0	49.0	45.0					19																	51837453		692	1591	2283	56529265	SO:0001583	missense	0				CCDS54300.1	19q13.41	2013-01-11				ENSG00000186806		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	27111	protein-coding gene	gene with protein product						12477932	Standard	NM_001163922		Approved		uc002pwf.3	Q86VR7		ENST00000335624.4:c.2411G>A	19.37:g.51837453C>T	ENSP00000335623:p.Arg804His		56529265		Missense_Mutation	SNP	ENST00000335624.4	37	CCDS54300.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.834542	0.32421	.	.	ENSG00000186806	ENST00000335624	T	0.27402	1.67	5.36	2.07	0.26955	.	0.127621	0.35838	N	0.002950	T	0.33585	0.0868	M	0.87682	2.9	0.09310	N	1	B	0.24882	0.113	B	0.15484	0.013	T	0.38693	-0.9649	10	0.72032	D	0.01	-7.7259	5.5096	0.16874	0.0:0.6568:0.1642:0.179	.	804	Q86VR7	VS10L_HUMAN	H	804	ENSP00000335623:R804H	ENSP00000335623:R804H	R	-	2	0	VSIG10L	56529265	0.018000	0.18449	0.004000	0.12327	0.881000	0.50899	-0.351000	0.07711	0.255000	0.21593	0.467000	0.42956	CGC		0.622	VSIG10L-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464535.1	NM_001163922	
LILRB4	11006	hgsc.bcm.edu	37	19	55179203	55179203	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr19:55179203A>G	ENST00000391736.1	+	13	1474	c.1159A>G	c.(1159-1161)Aag>Gag	p.K387E	LILRB4_ENST00000270452.2_Missense_Mutation_p.K387E|LILRB4_ENST00000391733.3_Missense_Mutation_p.K388E|LILRB4_ENST00000430952.2_Missense_Mutation_p.K386E|LILRB4_ENST00000391734.3_Intron	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	387					immune system process (GO:0002376)|negative regulation of osteoclast differentiation (GO:0045671)|signal transduction (GO:0007165)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.K387*(1)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CCTGGACACAAAGGACAGACA	0.592																																																	1	Substitution - Nonsense(1)	ovary(1)	19											74.0	71.0	72.0					19																	55179203		2198	4298	6496	59871015	SO:0001583	missense	11006			U82979	CCDS12902.1, CCDS42618.1	19q13.4	2013-01-11				ENSG00000186818		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6608	protein-coding gene	gene with protein product		604821				9151699, 9079806	Standard	XM_005277050		Approved	LIR-5, ILT3, HM18, LIR5, CD85k	uc002qgp.3	Q8NHJ6		ENST00000391736.1:c.1159A>G	19.37:g.55179203A>G	ENSP00000375616:p.Lys387Glu		59871015	A8MVL8|O15468|O75021|Q6FGQ9|Q8N1C7|Q8NHL5	Missense_Mutation	SNP	ENST00000391736.1	37	CCDS12902.1	.	.	.	.	.	.	.	.	.	.	A	4.483	0.089542	0.08632	.	.	ENSG00000186818	ENST00000391736;ENST00000270452;ENST00000430952;ENST00000391733;ENST00000434286	T;T;T;T;T	0.00498	7.23;7.23;7.23;7.25;6.97	2.18	-3.18	0.05186	.	.	.	.	.	T	0.00552	0.0018	L	0.58669	1.825	0.09310	N	1	B;B;P;B	0.39022	0.009;0.016;0.655;0.435	B;B;P;B	0.44394	0.001;0.003;0.448;0.101	T	0.32079	-0.9920	9	0.49607	T	0.09	.	4.2792	0.10824	0.3082:0.2213:0.4705:0.0	.	386;388;386;387	C9JST2;Q8NHJ6-3;Q8NHJ6-2;Q8NHJ6	.;.;.;LIRB4_HUMAN	E	387;387;386;388;386	ENSP00000375616:K387E;ENSP00000270452:K387E;ENSP00000408995:K386E;ENSP00000375613:K388E;ENSP00000401962:K386E	ENSP00000270452:K387E	K	+	1	0	LILRB4	59871015	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.414000	0.07114	-0.801000	0.04427	-0.466000	0.05196	AAG		0.592	LILRB4-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141127.3		
KIR3DL1	3811	hgsc.bcm.edu	37	19	55299851	55299851	+	Intron	SNP	C	C	T			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr19:55299851C>T	ENST00000538269.1	+	2	61				KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000541392.1_Intron			P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1						immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		GGTCGCATGACGCAAGACCTT	0.532																																																	0			19											1.0	1.0	1.0					19																	55299851		423	815	1238	59991663	SO:0001627	intron_variant	768329			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000538269.1:c.35-29138C>T	19.37:g.55299851C>T			59991663	O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000538269.1	37																																																																																					0.532	KIR3DL1-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_013289	
NLRP7	199713	hgsc.bcm.edu	37	19	55450708	55450708	+	Silent	SNP	G	G	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr19:55450708G>A	ENST00000590030.1	-	3	1519	c.1479C>T	c.(1477-1479)caC>caT	p.H493H	NLRP7_ENST00000448121.2_Silent_p.H493H|NLRP7_ENST00000446217.1_Silent_p.H521H|NLRP7_ENST00000592784.1_Silent_p.H493H|NLRP7_ENST00000588756.1_Silent_p.H493H|NLRP7_ENST00000340844.2_Silent_p.H493H|NLRP7_ENST00000328092.5_Silent_p.H493H			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	493							ATP binding (GO:0005524)	p.H493H(4)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGTCCCAGGCGTGGCCGTCCC	0.567																																																	4	Substitution - coding silent(4)	large_intestine(2)|kidney(2)	19											65.0	63.0	64.0					19																	55450708		2203	4300	6503	60142520	SO:0001819	synonymous_variant	199713			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.1479C>T	19.37:g.55450708G>A			60142520	E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	CCDS33109.1																																																																																				0.567	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1	NM_139176	
AURKC	6795	hgsc.bcm.edu	37	19	57746636	57746636	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr19:57746636T>C	ENST00000302804.7	+	7	967	c.781T>C	c.(781-783)Tca>Cca	p.S261P	AURKC_ENST00000598785.1_Missense_Mutation_p.S227P|AURKC_ENST00000415300.2_Missense_Mutation_p.S242P|AURKC_ENST00000448930.1_Missense_Mutation_p.S227P|AURKC_ENST00000599062.1_Missense_Mutation_p.S258P	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	261	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.S227A(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		GTTTCCACTATCAATGCCTCT	0.512																																																	1	Substitution - Missense(1)	ovary(1)	19											72.0	76.0	75.0					19																	57746636		2203	4300	6503	62438448	SO:0001583	missense	6795				CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"""serine/threonine kinase 13 (aurora/IPL1-like)"""	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.781T>C	19.37:g.57746636T>C	ENSP00000302898:p.Ser261Pro		62438448	O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Missense_Mutation	SNP	ENST00000302804.7	37	CCDS33128.1	.	.	.	.	.	.	.	.	.	.	T	7.163	0.586118	0.13749	.	.	ENSG00000105146	ENST00000415300;ENST00000448930;ENST00000302804	T;T;T	0.64618	-0.11;-0.11;-0.11	3.88	1.7	0.24286	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.656563	0.15500	N	0.259090	T	0.64023	0.2561	L	0.54323	1.7	0.09310	N	1	P;P;P	0.48294	0.908;0.863;0.511	P;P;B	0.53062	0.717;0.56;0.35	T	0.53229	-0.8468	10	0.46703	T	0.11	-2.4644	7.6119	0.28135	0.3702:0.0:0.0:0.6298	.	258;261;242	Q5Y191;Q9UQB9;Q9UQB9-3	.;AURKC_HUMAN;.	P	242;227;261	ENSP00000407162:S242P;ENSP00000406798:S227P;ENSP00000302898:S261P	ENSP00000302898:S261P	S	+	1	0	AURKC	62438448	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.055000	0.11807	0.279000	0.22186	-0.336000	0.08194	TCA		0.512	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	NM_003160	
ADRA1A	148	hgsc.bcm.edu	37	8	26627845	26627845	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr8:26627845C>A	ENST00000519229.1	-	2	1228	c.1222G>T	c.(1222-1224)Gcc>Tcc	p.A408S	ADRA1A_ENST00000276393.4_Missense_Mutation_p.A408S|ADRA1A_ENST00000380586.1_Missense_Mutation_p.A408S|ADRA1A_ENST00000354550.4_Missense_Mutation_p.A408S|ADRA1A_ENST00000380573.3_Missense_Mutation_p.A408S|ADRA1A_ENST00000380582.3_Missense_Mutation_p.A408S|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380581.2_Intron			P25100	ADA1D_HUMAN	adrenoceptor alpha 1A	0					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|DNA metabolic process (GO:0006259)|G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of the force of heart contraction involved in baroreceptor response to increased systemic arterial blood pressure (GO:0001986)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|positive regulation of cell proliferation (GO:0008284)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Dapiprazole(DB00298)|Desipramine(DB01151)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Oxymetazoline(DB00935)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Xylometazoline(DB06694)	GTAATCCTGGCAGATCCACGG	0.532																																																	0			8											118.0	118.0	118.0					8																	26627845		2203	4300	6503	26683762	SO:0001583	missense	148			L31774	CCDS6052.1, CCDS6053.1, CCDS6054.1, CCDS34869.1	8p21.2	2012-08-08	2012-05-09		ENSG00000120907	ENSG00000120907		"""GPCR / Class A : Adrenoceptors : alpha"""	277	protein-coding gene	gene with protein product		104221	"""adrenergic, alpha-1A-, receptor"""	ADRA1C			Standard	NM_033303		Approved	ADRA1L1	uc003xfh.1	P35348	OTTHUMG00000099459	ENST00000519229.1:c.1222G>T	8.37:g.26627845C>A	ENSP00000430793:p.Ala408Ser		26683762	Q9NPY0	Missense_Mutation	SNP	ENST00000519229.1	37		.	.	.	.	.	.	.	.	.	.	C	10.69	1.419793	0.25552	.	.	ENSG00000120907	ENST00000380586;ENST00000380582;ENST00000519229;ENST00000354550;ENST00000276393;ENST00000380573	T;T;T;T;T;T	0.63255	2.23;0.07;0.03;-0.03;0.12;0.12	5.85	2.6	0.31112	.	0.439260	0.21710	N	0.070295	T	0.50120	0.1597	L	0.51422	1.61	0.80722	D	1	B;B;B;B	0.15473	0.01;0.003;0.001;0.013	B;B;B;B	0.13407	0.004;0.004;0.003;0.009	T	0.34825	-0.9813	10	0.19590	T	0.45	.	7.9479	0.29998	0.1279:0.6703:0.0:0.2018	.	408;408;408;408	P35348;P35348-4;P35348-3;B0ZBD3	ADA1A_HUMAN;.;.;.	S	408	ENSP00000369960:A408S;ENSP00000369956:A408S;ENSP00000430793:A408S;ENSP00000346557:A408S;ENSP00000276393:A408S;ENSP00000369947:A408S	ENSP00000276393:A408S	A	-	1	0	ADRA1A	26683762	0.027000	0.19231	0.998000	0.56505	0.972000	0.66771	0.019000	0.13444	0.788000	0.33755	0.655000	0.94253	GCC		0.532	ADRA1A-009	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000376207.1	NM_033303	
TEX15	56154	hgsc.bcm.edu	37	8	30700211	30700211	+	Missense_Mutation	SNP	T	T	G			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr8:30700211T>G	ENST00000256246.2	-	1	6397	c.6323A>C	c.(6322-6324)aAa>aCa	p.K2108T		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2108					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGAAGCCATTTTTTCTTGGCA	0.363																																																	0			8											54.0	54.0	54.0					8																	30700211		2203	4300	6503	30819753	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.6323A>C	8.37:g.30700211T>G	ENSP00000256246:p.Lys2108Thr		30819753		Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	.	.	.	.	.	.	.	.	.	.	T	5.784	0.328922	0.10956	.	.	ENSG00000133863	ENST00000256246	T	0.12039	2.72	5.67	3.13	0.36017	.	0.406216	0.23543	N	0.047050	T	0.10680	0.0261	L	0.41236	1.265	0.24255	N	0.995302	B	0.27351	0.176	B	0.23419	0.046	T	0.21348	-1.0248	10	0.87932	D	0	.	6.5177	0.22256	0.0:0.0775:0.3016:0.6209	.	2108	Q9BXT5	TEX15_HUMAN	T	2108	ENSP00000256246:K2108T	ENSP00000256246:K2108T	K	-	2	0	TEX15	30819753	1.000000	0.71417	0.996000	0.52242	0.757000	0.42996	1.359000	0.34113	0.959000	0.37980	0.477000	0.44152	AAA		0.363	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1		
STAR	6770	hgsc.bcm.edu	37	8	38006255	38006255	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr8:38006255C>T	ENST00000276449.4	-	2	528	c.82G>A	c.(82-84)Gtg>Atg	p.V28M	RP11-90P5.2_ENST00000520598.1_RNA	NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	28					bile acid biosynthetic process (GO:0006699)|biphenyl metabolic process (GO:0018879)|brain development (GO:0007420)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to alkaloid (GO:0071312)|cellular response to antibiotic (GO:0071236)|cellular response to cadmium ion (GO:0071276)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth hormone stimulus (GO:0071378)|cellular response to insulin stimulus (GO:0032869)|cellular response to interferon-alpha (GO:0035457)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to luteinizing hormone stimulus (GO:0071373)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cholesterol metabolic process (GO:0008203)|circadian sleep/wake cycle, REM sleep (GO:0042747)|dibenzo-p-dioxin metabolic process (GO:0018894)|diterpenoid metabolic process (GO:0016101)|estrogen biosynthetic process (GO:0006703)|fractalkine metabolic process (GO:0050756)|glucocorticoid metabolic process (GO:0008211)|insecticide metabolic process (GO:0017143)|intracellular cholesterol transport (GO:0032367)|male gonad development (GO:0008584)|negative regulation of neuron apoptotic process (GO:0043524)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of gene expression (GO:0010628)|positive regulation of neurogenesis (GO:0050769)|progesterone biosynthetic process (GO:0006701)|regulation of neuronal synaptic plasticity (GO:0048168)|regulation of steroid biosynthetic process (GO:0050810)|response to activity (GO:0014823)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to hydrogen peroxide (GO:0042542)|response to ionizing radiation (GO:0010212)|response to lead ion (GO:0010288)|response to leptin (GO:0044321)|response to nicotine (GO:0035094)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|testosterone biosynthetic process (GO:0061370)	cytosol (GO:0005829)|mitochondrial crista (GO:0030061)|mitochondrial intermembrane space (GO:0005758)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	cholesterol binding (GO:0015485)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		ATGGCCATCACAGCCTGTTGC	0.597																																																	0			8											32.0	34.0	33.0					8																	38006255		2203	4300	6503	38125412	SO:0001583	missense	92002			BC010550	CCDS6102.1	8p11.2	2011-09-13	2007-05-15		ENSG00000147465	ENSG00000147465		"""StAR-related lipid transfer (START) domain containing"""	11359	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 1"""	600617	"""steroidogenic acute regulator"""			7761400	Standard	NM_000349		Approved	StAR, STARD1	uc003xkv.1	P49675	OTTHUMG00000164058	ENST00000276449.4:c.82G>A	8.37:g.38006255C>T	ENSP00000276449:p.Val28Met		38125412	Q16396	Missense_Mutation	SNP	ENST00000276449.4	37	CCDS6102.1	.	.	.	.	.	.	.	.	.	.	C	4.269	0.049038	0.08243	.	.	ENSG00000147465	ENST00000276449	D	0.87966	-2.32	5.28	-0.098	0.13630	.	0.710749	0.14761	N	0.299965	T	0.73110	0.3545	N	0.21142	0.635	0.09310	N	0.999997	B	0.02656	0.0	B	0.10450	0.005	T	0.55503	-0.8131	10	0.15952	T	0.53	-7.9645	6.2879	0.21043	0.1201:0.5905:0.0:0.2894	.	28	P49675	STAR_HUMAN	M	28	ENSP00000276449:V28M	ENSP00000276449:V28M	V	-	1	0	STAR	38125412	0.004000	0.15560	0.059000	0.19551	0.340000	0.28889	0.257000	0.18369	0.278000	0.22164	0.462000	0.41574	GTG		0.597	STAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376990.2	NM_000349	
CHD7	55636	hgsc.bcm.edu	37	8	61769343	61769343	+	Missense_Mutation	SNP	C	C	G			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr8:61769343C>G	ENST00000423902.2	+	34	7983	c.7504C>G	c.(7504-7506)Cta>Gta	p.L2502V	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000529472.1_3'UTR	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	2502					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TAATGGCTCCCTAGTGGATGG	0.512																																																	0			8											114.0	112.0	113.0					8																	61769343		1943	4141	6084	61931897	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.7504C>G	8.37:g.61769343C>G	ENSP00000392028:p.Leu2502Val		61931897	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982659	0.74474	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	D	0.86366	-2.11	5.2	4.24	0.50183	.	0.089265	0.46442	D	0.000294	T	0.82047	0.4952	L	0.49126	1.545	0.46798	D	0.999207	P	0.47841	0.901	P	0.44696	0.458	T	0.80296	-0.1442	10	0.44086	T	0.13	-11.2105	4.2381	0.10635	0.0:0.7103:0.0:0.2897	.	2502	Q9P2D1	CHD7_HUMAN	V	2502	ENSP00000392028:L2502V	ENSP00000307304:L2502V	L	+	1	2	CHD7	61931897	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	3.289000	0.51747	2.698000	0.92095	0.655000	0.94253	CTA		0.512	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762	
NBN	4683	hgsc.bcm.edu	37	8	90958456	90958456	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr8:90958456G>T	ENST00000265433.3	-	13	2136	c.1982C>A	c.(1981-1983)tCa>tAa	p.S661*	NBN_ENST00000409330.1_Nonsense_Mutation_p.S579*	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	661					blastocyst growth (GO:0001832)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|DNA damage checkpoint (GO:0000077)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intrinsic apoptotic signaling pathway (GO:0097193)|isotype switching (GO:0045190)|meiotic nuclear division (GO:0007126)|mitotic cell cycle checkpoint (GO:0007093)|mitotic G2 DNA damage checkpoint (GO:0007095)|neuromuscular process controlling balance (GO:0050885)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|telomere maintenance (GO:0000723)	Mre11 complex (GO:0030870)|nuclear chromosome, telomeric region (GO:0000784)|nuclear inclusion body (GO:0042405)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|replication fork (GO:0005657)|site of double-strand break (GO:0035861)	damaged DNA binding (GO:0003684)|protein N-terminus binding (GO:0047485)|transcription factor binding (GO:0008134)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			AATCACCAGTGATCTAAATTC	0.323								Homologous recombination																																									0			8											120.0	122.0	121.0					8																	90958456		2203	4298	6501	91027632	SO:0001587	stop_gained	9048			AF058696	CCDS6249.1	8q21-q24	2014-09-17	2005-06-02	2005-06-02	ENSG00000104320	ENSG00000104320			7652	protein-coding gene	gene with protein product		602667	"""Nijmegen breakage syndrome 1 (nibrin)"""	NBS, NBS1		9590181, 9590180	Standard	XM_005250923		Approved	ATV, AT-V2, AT-V1	uc003yej.1	O60934	OTTHUMG00000153546	ENST00000265433.3:c.1982C>A	8.37:g.90958456G>T	ENSP00000265433:p.Ser661*		91027632	B2R626|B2RNC5|O60672|Q32NF7|Q53FM6|Q63HR6|Q7LDM2	Nonsense_Mutation	SNP	ENST00000265433.3	37	CCDS6249.1	.	.	.	.	.	.	.	.	.	.	G	40	8.048006	0.98627	.	.	ENSG00000104320	ENST00000265433;ENST00000409330	.	.	.	5.65	3.87	0.44632	.	0.137053	0.51477	D	0.000091	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.4442	12.2048	0.54346	0.1395:0.0:0.8605:0.0	.	.	.	.	X	661;579	.	ENSP00000265433:S661X	S	-	2	0	NBN	91027632	1.000000	0.71417	0.948000	0.38648	0.949000	0.60115	3.753000	0.55180	0.870000	0.35726	0.650000	0.86243	TCA		0.323	NBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331583.3	NM_001024688	
RGS22	26166	hgsc.bcm.edu	37	8	101075775	101075775	+	Silent	SNP	A	A	G	rs373041410		TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr8:101075775A>G	ENST00000360863.6	-	8	1415	c.1221T>C	c.(1219-1221)taT>taC	p.Y407Y	RGS22_ENST00000523287.1_Silent_p.Y226Y|RGS22_ENST00000523437.1_Silent_p.Y395Y	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	407					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)	p.Y407*(1)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TGCCAATGTCATAAGTCCTAT	0.393													A|||	1	0.000199681	0.0008	0.0	5008	,	,		15404	0.0		0.0	False		,,,				2504	0.0																1	Substitution - Nonsense(1)	ovary(1)	8						A		4,3724		0,4,1860	154.0	139.0	144.0		1221	-5.0	0.3	8		144	0,8210		0,0,4105	no	coding-synonymous	RGS22	NM_015668.3		0,4,5965	GG,GA,AA		0.0,0.1073,0.0335		407/1265	101075775	4,11934	1864	4105	5969	101144951	SO:0001819	synonymous_variant	26166			AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.1221T>C	8.37:g.101075775A>G			101144951	A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Silent	SNP	ENST00000360863.6	37	CCDS43758.1																																																																																				0.393	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380365.1	NM_015668	
MTSS1	9788	hgsc.bcm.edu	37	8	125580672	125580672	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr8:125580672A>G	ENST00000518547.1	-	7	1039	c.566T>C	c.(565-567)aTt>aCt	p.I189T	MTSS1_ENST00000431961.2_5'UTR|NDUFB9_ENST00000522532.1_3'UTR|MTSS1_ENST00000395508.2_5'Flank|MTSS1_ENST00000325064.5_Missense_Mutation_p.I193T|MTSS1_ENST00000524090.1_Missense_Mutation_p.I79T|MTSS1_ENST00000378017.3_Missense_Mutation_p.I189T|MTSS1_ENST00000354184.4_5'UTR	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	189	IMD. {ECO:0000255|PROSITE- ProRule:PRU00668}.				actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|adherens junction maintenance (GO:0034334)|bone mineralization (GO:0030282)|cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|cellular response to fluid shear stress (GO:0071498)|epithelial cell proliferation involved in renal tubule morphogenesis (GO:2001013)|filopodium assembly (GO:0046847)|glomerulus morphogenesis (GO:0072102)|in utero embryonic development (GO:0001701)|magnesium ion homeostasis (GO:0010960)|microspike assembly (GO:0030035)|negative regulation of epithelial cell proliferation (GO:0050680)|nephron tubule epithelial cell differentiation (GO:0072160)|positive regulation of actin filament bundle assembly (GO:0032233)|renal tubule morphogenesis (GO:0061333)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			ACGTTCTTCAATCAAAGCCTT	0.448																																					Esophageal Squamous(160;622 1893 3862 8546 12509)												0			8											110.0	94.0	100.0					8																	125580672		2203	4300	6503	125649853	SO:0001583	missense	9788			AF086645	CCDS6353.1, CCDS64968.1, CCDS64969.1	8p22	2008-02-05			ENSG00000170873	ENSG00000170873			20443	protein-coding gene	gene with protein product		608486				12482861, 12082544	Standard	XM_005251111		Approved	KIAA0429, MIMA, MIMB, MIM	uc003yrk.2	O43312	OTTHUMG00000048189	ENST00000518547.1:c.566T>C	8.37:g.125580672A>G	ENSP00000429064:p.Ile189Thr		125649853	J3KNK6|Q8TCA2|Q96RX2	Missense_Mutation	SNP	ENST00000518547.1	37	CCDS6353.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.630867	0.87660	.	.	ENSG00000170873	ENST00000378017;ENST00000518547;ENST00000325064;ENST00000524090	T;T;T;T	0.42513	1.31;1.37;1.34;0.97	5.55	5.55	0.83447	IRSp53/MIM homology domain (IMD) (3);	0.072630	0.64402	D	0.000002	T	0.53690	0.1812	L	0.48362	1.52	0.80722	D	1	D;P;B;B	0.57571	0.98;0.942;0.299;0.258	P;P;B;B	0.62649	0.871;0.905;0.328;0.314	T	0.43734	-0.9373	10	0.19147	T	0.46	-18.4336	15.9844	0.80138	1.0:0.0:0.0:0.0	.	79;189;189;189	E7EWW5;A5YM41;O43312;O43312-4	.;.;MTSS1_HUMAN;.	T	189;189;193;79	ENSP00000367256:I189T;ENSP00000429064:I189T;ENSP00000322804:I193T;ENSP00000428319:I79T	ENSP00000322804:I193T	I	-	2	0	MTSS1	125649853	1.000000	0.71417	0.682000	0.30024	0.818000	0.46254	9.181000	0.94874	2.233000	0.73108	0.533000	0.62120	ATT		0.448	MTSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109625.3	NM_014751	
ZNF572	137209	hgsc.bcm.edu	37	8	125989231	125989231	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr8:125989231G>A	ENST00000319286.5	+	3	875	c.721G>A	c.(721-723)Gaa>Aaa	p.E241K		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	241					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(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			ACATACAGGTGAAAAACCATA	0.448										HNSCC(60;0.17)																																							0			8											67.0	65.0	66.0					8																	125989231		2203	4299	6502	126058412	SO:0001583	missense	137209			BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"""Zinc fingers, C2H2-type"""	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.721G>A	8.37:g.125989231G>A	ENSP00000319305:p.Glu241Lys		126058412	A1L4F1|Q8N1Q0	Missense_Mutation	SNP	ENST00000319286.5	37	CCDS6354.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.729262	0.89390	.	.	ENSG00000180938	ENST00000319286	T	0.24350	1.86	5.19	5.19	0.71726	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.49916	D	0.000122	T	0.44222	0.1283	L	0.43554	1.36	0.46279	D	0.998968	D	0.89917	1.0	D	0.97110	1.0	T	0.23868	-1.0176	10	0.59425	D	0.04	-17.7539	16.2371	0.82381	0.0:0.0:1.0:0.0	.	241	Q7Z3I7	ZN572_HUMAN	K	241	ENSP00000319305:E241K	ENSP00000319305:E241K	E	+	1	0	ZNF572	126058412	1.000000	0.71417	0.981000	0.43875	0.955000	0.61496	6.857000	0.75455	2.698000	0.92095	0.655000	0.94253	GAA		0.448	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412	
ASAP1	50807	hgsc.bcm.edu	37	8	131127886	131127886	+	Silent	SNP	A	A	G			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr8:131127886A>G	ENST00000518721.1	-	23	2387	c.2160T>C	c.(2158-2160)gaT>gaC	p.D720D	ASAP1_ENST00000357668.1_Silent_p.D720D	NM_001247996.1|NM_018482.3	NP_001234925.1|NP_060952.2	Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	720					cilium morphogenesis (GO:0060271)|regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TGTCATCCAGATCATCATCGC	0.418																																																	0			8											320.0	271.0	288.0					8																	131127886		2203	4300	6503	131197068	SO:0001819	synonymous_variant	50807			AB033075	CCDS6362.1, CCDS75788.1	8q24.1-q24.2	2013-01-11	2008-09-22	2008-09-22	ENSG00000153317	ENSG00000153317		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2720	protein-coding gene	gene with protein product	"""centaurin, beta 4"""	605953	"""development and differentiation enhancing factor 1"""	DDEF1		9819391	Standard	NM_018482		Approved	PAP, KIAA1249, ZG14P, CENTB4	uc003yta.2	Q9ULH1	OTTHUMG00000164772	ENST00000518721.1:c.2160T>C	8.37:g.131127886A>G			131197068	B2RNV3	Silent	SNP	ENST00000518721.1	37	CCDS6362.1	.	.	.	.	.	.	.	.	.	.	A	10.22	1.290238	0.23478	.	.	ENSG00000153317	ENST00000524124;ENST00000519483	.	.	.	5.17	-1.89	0.07689	.	.	.	.	.	T	0.57607	0.2065	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.54173	-0.8333	4	.	.	.	.	11.5213	0.50553	0.5138:0.0:0.4862:0.0	.	.	.	.	P	541;134	.	.	S	-	1	0	ASAP1	131197068	0.802000	0.28943	0.976000	0.42696	0.994000	0.84299	0.002000	0.13061	-0.489000	0.06716	0.528000	0.53228	TCT		0.418	ASAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380170.1	NM_018482	
ST3GAL1	6482	hgsc.bcm.edu	37	8	134472027	134472027	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr8:134472027G>A	ENST00000319914.5	-	9	2030	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	ST3GAL1_ENST00000521180.1_Missense_Mutation_p.R335W|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.R335W|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.R335W			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	335					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylneuraminate metabolic process (GO:0006054)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein phosphorylation (GO:0006468)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	beta-galactoside (CMP) alpha-2,3-sialyltransferase activity (GO:0003836)			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			TTGAAGATCCGGATTTTATTG	0.572																																																	0			8											159.0	119.0	133.0					8																	134472027		2203	4300	6503	134541209	SO:0001583	missense	6482			L29555	CCDS6373.1	8q24.22	2013-03-01	2003-01-14	2005-02-07	ENSG00000008513	ENSG00000008513	2.4.99.4	"""Sialyltransferases"""	10862	protein-coding gene	gene with protein product	"""ST3Gal I"""	607187	"""sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase)"""	SIAT4A		10504389, 7655169	Standard	NM_003033		Approved	ST3O, SIATFL, ST3GalA.1	uc003yuk.2	Q11201	OTTHUMG00000164534	ENST00000319914.5:c.1003C>T	8.37:g.134472027G>A	ENSP00000318445:p.Arg335Trp		134541209	O60677|Q9UN51	Missense_Mutation	SNP	ENST00000319914.5	37	CCDS6373.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.363777	0.82353	.	.	ENSG00000008513	ENST00000319914;ENST00000399640;ENST00000521180;ENST00000522652	T;T;T;T	0.33216	1.42;1.42;1.42;1.42	5.13	5.13	0.70059	.	0.469539	0.24561	N	0.037474	T	0.46171	0.1379	L	0.60455	1.87	0.37119	D	0.900705	D	0.76494	0.999	P	0.57846	0.828	T	0.54241	-0.8323	10	0.72032	D	0.01	-24.7509	13.5465	0.61707	0.0:0.0:0.8342:0.1658	.	335	Q11201	SIA4A_HUMAN	W	335	ENSP00000318445:R335W;ENSP00000414073:R335W;ENSP00000428540:R335W;ENSP00000430515:R335W	ENSP00000318445:R335W	R	-	1	2	ST3GAL1	134541209	0.994000	0.37717	0.998000	0.56505	0.994000	0.84299	2.355000	0.44107	2.558000	0.86282	0.555000	0.69702	CGG		0.572	ST3GAL1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379132.1	NM_003033	
NADK	65220	hgsc.bcm.edu	37	1	1691315	1691315	+	Intron	SNP	T	T	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr1:1691315T>A	ENST00000341426.5	-	3	485				NADK_ENST00000378625.1_Missense_Mutation_p.Q97L|NADK_ENST00000344463.4_Missense_Mutation_p.Q97L|NADK_ENST00000492768.1_Intron|NADK_ENST00000342348.5_5'Flank|NADK_ENST00000341991.3_Intron	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase						ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		AGGCAGCAGCTGAGATGCGAG	0.667																																																	0			1											3.0	3.0	3.0					1																	1691315		753	1719	2472	1681175	SO:0001627	intron_variant	65220			BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.263+2075A>T	1.37:g.1691315T>A			1681175	A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Missense_Mutation	SNP	ENST00000341426.5	37	CCDS30565.1	.	.	.	.	.	.	.	.	.	.	T	1.823	-0.471816	0.04445	.	.	ENSG00000008130	ENST00000378625;ENST00000344463	T;T	0.44482	0.92;0.92	1.61	-1.58	0.08479	.	4.246320	0.01898	U	0.039013	T	0.23289	0.0563	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16100	-1.0414	10	0.44086	T	0.13	5.925	5.0569	0.14537	0.0:0.4221:0.0:0.5779	.	97	Q5QPS4	.	L	97	ENSP00000367890:Q97L;ENSP00000340925:Q97L	ENSP00000340925:Q97L	Q	-	2	0	NADK	1681175	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.774000	0.01784	-0.480000	0.06803	-1.271000	0.01417	CAG		0.667	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002769.1	NM_023018	
MEGF6	1953	hgsc.bcm.edu	37	1	3413269	3413269	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr1:3413269G>A	ENST00000356575.4	-	29	3918	c.3692C>T	c.(3691-3693)aCg>aTg	p.T1231M	MEGF6_ENST00000294599.4_Missense_Mutation_p.T996M	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	1231	EGF-like 22. {ECO:0000255|PROSITE- ProRule:PRU00076}.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCAGGCCCCCGTGGCCGCATC	0.682																																					Ovarian(73;978 3658)												0			1											8.0	13.0	12.0					1																	3413269		1974	4107	6081	3403129	SO:0001583	missense	1953			AB011539	CCDS41237.1	1p36.3	2008-02-05	2006-03-31	2006-03-31	ENSG00000162591	ENSG00000162591			3232	protein-coding gene	gene with protein product		604266	"""EGF-like-domain, multiple 3"""	EGFL3		9693030	Standard	NM_001409		Approved		uc001akl.3	O75095	OTTHUMG00000000611	ENST00000356575.4:c.3692C>T	1.37:g.3413269G>A	ENSP00000348982:p.Thr1231Met		3403129	Q4AC86|Q5VV39	Missense_Mutation	SNP	ENST00000356575.4	37	CCDS41237.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.81|14.81	2.647924|2.647924	0.47258|0.47258	.|.	.|.	ENSG00000162591|ENSG00000162591	ENST00000491842|ENST00000294599;ENST00000356575	.|T;T	.|0.33865	.|1.39;1.39	4.25|4.25	4.25|4.25	0.50352|0.50352	.|Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	.|0.058769	.|0.64402	.|D	.|0.000003	T|T	0.73040|0.73040	0.3536|0.3536	H|H	0.97365|0.97365	3.99|3.99	0.34173|0.34173	D|D	0.670019|0.670019	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.79784	.|0.991;0.993	D|D	0.87393|0.87393	0.2364|0.2364	5|10	.|0.56958	.|D	.|0.05	-4.0308|-4.0308	16.4653|16.4653	0.84077|0.84077	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1231;996	.|O75095;O75095-2	.|MEGF6_HUMAN;.	W|M	5|996;1231	.|ENSP00000294599:T996M;ENSP00000348982:T1231M	.|ENSP00000294599:T996M	R|T	-|-	1|2	2|0	MEGF6|MEGF6	3403129|3403129	0.992000|0.992000	0.36948|0.36948	0.131000|0.131000	0.22000|0.22000	0.153000|0.153000	0.21895|0.21895	2.281000|2.281000	0.43452|0.43452	2.209000|2.209000	0.71365|0.71365	0.655000|0.655000	0.94253|0.94253	CGG|ACG		0.682	MEGF6-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354866.1	NM_001409	
PADI6	353238	hgsc.bcm.edu	37	1	17708469	17708469	+	RNA	SNP	G	G	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr1:17708469G>A	ENST00000434762.2	+	0	611							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						cytoplasm organization (GO:0007028)|cytoskeleton organization (GO:0007010)|protein citrullination (GO:0018101)|regulation of translation by machinery localization (GO:0043143)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|protein-arginine deiminase activity (GO:0004668)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CAGAAATAACGAATCTGTCCC	0.507																																																	0			1											87.0	84.0	85.0					1																	17708469		1887	4112	5999	17581056			353238			AY422079	CCDS72715.1	1p36.13	2014-07-10			ENSG00000256049	ENSG00000276747	3.5.3.15	"""Peptidyl arginine deiminases"""	20449	protein-coding gene	gene with protein product		610363				15087120	Standard	NM_207421		Approved		uc001bak.1	Q6TGC4	OTTHUMG00000002372		1.37:g.17708469G>A			17581056	Q330K5|Q70SX3	Silent	SNP	ENST00000434762.2	37																																																																																					0.507	PADI6-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000006804.4	NM_207421	
NOTCH2	4853	hgsc.bcm.edu	37	1	120512251	120512251	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr1:120512251T>C	ENST00000256646.2	-	6	1210	c.991A>G	c.(991-993)Agt>Ggt	p.S331G		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	331	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|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)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCATCTCCACTCCAGCCGTTG	0.557			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																															Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0			1											162.0	114.0	130.0					1																	120512251		2203	4300	6503	120313774	SO:0001583	missense	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.991A>G	1.37:g.120512251T>C	ENSP00000256646:p.Ser331Gly		120313774	Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	ENST00000256646.2	37	CCDS908.1	.	.	.	.	.	.	.	.	.	.	T	29.1	4.979832	0.92982	.	.	ENSG00000134250	ENST00000256646;ENST00000539617	T	0.61392	0.11	5.73	5.73	0.89815	EGF-like region, conserved site (2);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.164832	0.28612	U	0.014733	T	0.50514	0.1620	N	0.21508	0.67	0.80722	D	1	P;P;P	0.50710	0.811;0.938;0.645	P;P;B	0.58210	0.597;0.835;0.371	T	0.58064	-0.7702	10	0.56958	D	0.05	.	15.1985	0.73116	0.0:0.0:0.0:1.0	.	292;331;331	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	G	331;292	ENSP00000256646:S331G	ENSP00000256646:S331G	S	-	1	0	NOTCH2	120313774	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.698000	0.84413	2.186000	0.69663	0.533000	0.62120	AGT		0.557	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408	
SPTA1	6708	hgsc.bcm.edu	37	1	158626363	158626363	+	Silent	SNP	G	G	A	rs371639635	byFrequency	TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr1:158626363G>A	ENST00000368147.4	-	20	3069	c.2889C>T	c.(2887-2889)aaC>aaT	p.N963N		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	963					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)	p.N963N(1)		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)					CCTGGCAGGCGTTTGCCTGAT	0.398													G|||	4	0.000798722	0.003	0.0	5008	,	,		16668	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	large_intestine(1)	1						G		2,3722		0,2,1860	168.0	171.0	170.0		2889	-5.2	1.0	1		170	1,8185		0,1,4092	no	coding-synonymous	SPTA1	NM_003126.2		0,3,5952	AA,AG,GG		0.0122,0.0537,0.0252		963/2420	158626363	3,11907	1862	4093	5955	156892987	SO:0001819	synonymous_variant	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.2889C>T	1.37:g.158626363G>A			156892987	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Silent	SNP	ENST00000368147.4	37	CCDS41423.1																																																																																				0.398	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
CD84	8832	hgsc.bcm.edu	37	1	160535332	160535332	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr1:160535332G>A	ENST00000311224.4	-	2	316	c.250C>T	c.(250-252)Cgg>Tgg	p.R84W	CD84_ENST00000368051.3_Missense_Mutation_p.R84W|CD84_ENST00000368047.3_5'UTR|CD84_ENST00000534968.1_Intron|CD84_ENST00000368054.3_Missense_Mutation_p.R84W|CD84_ENST00000368048.3_Missense_Mutation_p.R84W|RP11-528G1.2_ENST00000446952.1_RNA	NM_001184879.1	NP_001171808.1	Q9UIB8	SLAF5_HUMAN	CD84 molecule	84	Ig-like V-type.				blood coagulation (GO:0007596)|defense response (GO:0006952)|homophilic cell adhesion (GO:0007156)|leukocyte migration (GO:0050900)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)	p.R84W(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GCATGTATCCGTTCATAATAA	0.433																																																	1	Substitution - Missense(1)	ovary(1)	1											255.0	224.0	234.0					1																	160535332		2203	4300	6503	158801956	SO:0001583	missense	8832			AF054816	CCDS1206.1, CCDS53395.1, CCDS53396.1, CCDS53397.1	1q24	2013-01-11	2006-03-31		ENSG00000066294	ENSG00000066294		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1704	protein-coding gene	gene with protein product		604513	"""CD84 antigen (leukocyte antigen)"", ""CD84 molecule """			9310491	Standard	NM_003874		Approved	SLAMF5, hCD84, mCD84	uc001fwh.4	Q9UIB8	OTTHUMG00000022788	ENST00000311224.4:c.250C>T	1.37:g.160535332G>A	ENSP00000312367:p.Arg84Trp		158801956	B2R8T1|B7Z3R8|O15430|O95266|O95660|Q5H9R1|Q6FHA8|Q8WLP1|Q8WWI8|Q9UF04|Q9UIB6|Q9UIB7|Q9UIT7	Missense_Mutation	SNP	ENST00000311224.4	37	CCDS53396.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.169431	0.57584	.	.	ENSG00000066294	ENST00000368054;ENST00000368048;ENST00000311224;ENST00000368051;ENST00000360056;ENST00000368047	T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41	5.11	3.14	0.36123	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.44891	0.1315	M	0.87971	2.92	0.27201	N	0.960175	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0;1.0	T	0.42050	-0.9474	10	0.87932	D	0	-12.0244	10.2737	0.43497	0.0:0.0:0.5938:0.4062	.	84;84;84;84;84;84	Q9UIB8-5;Q9UIB8-6;Q9UIB8-4;Q9UIB8;Q9UIB8-2;Q9UIB8-3	.;.;.;SLAF5_HUMAN;.;.	W	84	ENSP00000357033:R84W;ENSP00000357027:R84W;ENSP00000312367:R84W;ENSP00000357030:R84W;ENSP00000353163:R84W;ENSP00000357026:R84W	ENSP00000312367:R84W	R	-	1	2	CD84	158801956	0.702000	0.27816	0.028000	0.17463	0.074000	0.17049	2.042000	0.41222	0.764000	0.33197	0.591000	0.81541	CGG		0.433	CD84-003	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059092.1	NM_003874	
DDR2	4921	hgsc.bcm.edu	37	1	162750028	162750028	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr1:162750028G>A	ENST00000367922.3	+	19	2998	c.2560G>A	c.(2560-2562)Gac>Aac	p.D854N	DDR2_ENST00000367921.3_Missense_Mutation_p.D854N|RN7SL861P_ENST00000473793.2_RNA	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2	854					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|chondrocyte proliferation (GO:0035988)|collagen fibril organization (GO:0030199)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|endochondral bone growth (GO:0003416)|extracellular matrix organization (GO:0030198)|ossification (GO:0001503)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of extracellular matrix disassembly (GO:0090091)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein autophosphorylation (GO:0046777)|regulation of bone mineralization (GO:0030500)|regulation of extracellular matrix disassembly (GO:0010715)|signal transduction (GO:0007165)	apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)		Regorafenib(DB08896)	TCAACAAGGCGACGAGTGATG	0.522																																					NSCLC(161;314 2006 8283 19651 23192)												0			1											126.0	111.0	116.0					1																	162750028		2203	4300	6503	161016652	SO:0001583	missense	4921			AK095975	CCDS1241.1	1q12-q23	2009-07-10	2008-01-23		ENSG00000162733	ENSG00000162733	2.7.10.1		2731	protein-coding gene	gene with protein product		191311	"""discoidin domain receptor family, member 2"""	TYRO10, NTRKR3		9659899	Standard	XM_005245221		Approved	TKT	uc001gcg.3	Q16832	OTTHUMG00000034423	ENST00000367922.3:c.2560G>A	1.37:g.162750028G>A	ENSP00000356899:p.Asp854Asn		161016652	Q7Z730	Missense_Mutation	SNP	ENST00000367922.3	37	CCDS1241.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.568659	0.28003	.	.	ENSG00000162733	ENST00000367922;ENST00000367921	D;D	0.83755	-1.76;-1.76	5.66	3.47	0.39725	.	0.735654	0.12776	N	0.440056	T	0.64692	0.2621	L	0.42245	1.32	0.22656	N	0.998888	B	0.02656	0.0	B	0.01281	0.0	T	0.61613	-0.7027	9	0.51188	T	0.08	.	10.3688	0.44042	0.1827:0.0:0.8173:0.0	.	854	Q16832	DDR2_HUMAN	N	854	ENSP00000356899:D854N;ENSP00000356898:D854N	ENSP00000356898:D854N	D	+	1	0	DDR2	161016652	0.102000	0.21896	0.005000	0.12908	0.728000	0.41692	2.423000	0.44705	1.399000	0.46721	0.650000	0.86243	GAC		0.522	DDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083213.2	NM_006182	
HMCN1	83872	hgsc.bcm.edu	37	1	186045604	186045604	+	Missense_Mutation	SNP	G	G	C			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr1:186045604G>C	ENST00000271588.4	+	54	8564	c.8335G>C	c.(8335-8337)Gat>Cat	p.D2779H	HMCN1_ENST00000367492.2_Missense_Mutation_p.D2779H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2779	Ig-like C2-type 26.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAACATGCTAGATACTGGCAG	0.403																																																	0			1											118.0	95.0	103.0					1																	186045604		2203	4300	6503	184312227	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.8335G>C	1.37:g.186045604G>C	ENSP00000271588:p.Asp2779His		184312227	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551505	0.65311	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.65364	-0.14;-0.15	5.2	5.2	0.72013	Immunoglobulin-like (1);	0.264757	0.37348	N	0.002140	T	0.68842	0.3045	L	0.29908	0.895	0.37546	D	0.91851	D	0.89917	1.0	D	0.87578	0.998	T	0.72040	-0.4410	10	0.45353	T	0.12	.	14.6879	0.69062	0.0:0.1449:0.8551:0.0	.	2779	Q96RW7	HMCN1_HUMAN	H	2779	ENSP00000271588:D2779H;ENSP00000356462:D2779H	ENSP00000271588:D2779H	D	+	1	0	HMCN1	184312227	1.000000	0.71417	0.965000	0.40720	0.941000	0.58515	4.498000	0.60373	2.567000	0.86603	0.655000	0.94253	GAT		0.403	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
BTG2	7832	hgsc.bcm.edu	37	1	203274815	203274815	+	Silent	SNP	G	G	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr1:203274815G>A	ENST00000290551.4	+	1	152	c.81G>A	c.(79-81)cgG>cgA	p.R27R	RP11-134P9.1_ENST00000457348.1_lincRNA	NM_006763.2	NP_006754.1	P78543	BTG2_HUMAN	BTG family, member 2	27					anterior/posterior pattern specification (GO:0009952)|associative learning (GO:0008306)|cellular response to DNA damage stimulus (GO:0006974)|central nervous system neuron development (GO:0021954)|dentate gyrus development (GO:0021542)|DNA repair (GO:0006281)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neural precursor cell proliferation (GO:2000178)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of translation (GO:0017148)|neuron projection development (GO:0031175)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|protein methylation (GO:0006479)|response to electrical stimulus (GO:0051602)|response to mechanical stimulus (GO:0009612)|response to organic cyclic compound (GO:0014070)|response to peptide hormone (GO:0043434)|skeletal muscle cell differentiation (GO:0035914)	extracellular vesicular exosome (GO:0070062)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.R27R(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.203)			TGAGGACCCGGGGCTGCGTGA	0.716																																																	1	Substitution - coding silent(1)	skin(1)	1											16.0	16.0	16.0					1																	203274815		2168	4261	6429	201541438	SO:0001819	synonymous_variant	7832				CCDS1437.1	1q32	2008-07-18			ENSG00000159388	ENSG00000159388			1131	protein-coding gene	gene with protein product	"""B-cell translocation gene 2"", ""pheochromacytoma cell-3"", ""NGF-inducible anti-proliferative protein PC3"", ""nerve growth factor-inducible anti-proliferative"""	601597				8944033	Standard	NM_006763		Approved	PC3, TIS21, MGC126063, MGC126064	uc001gzq.3	P78543	OTTHUMG00000035834	ENST00000290551.4:c.81G>A	1.37:g.203274815G>A			201541438	A0A024R986|Q3KR25|Q5VUT0	Silent	SNP	ENST00000290551.4	37	CCDS1437.1																																																																																				0.716	BTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087168.1	NM_006763	
PIK3C2B	5287	hgsc.bcm.edu	37	1	204399104	204399104	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr1:204399104T>C	ENST00000367187.3	-	30	4899	c.4343A>G	c.(4342-4344)gAg>gGg	p.E1448G	RP11-739N20.2_ENST00000443515.1_RNA|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.E1420G	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	1448	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GTTTAGCTCCTCCCTCCGCCG	0.682																																																	0			1											77.0	66.0	70.0					1																	204399104		2203	4300	6503	202665727	SO:0001583	missense	5287			Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.4343A>G	1.37:g.204399104T>C	ENSP00000356155:p.Glu1448Gly		202665727	O95666|Q5SW99	Missense_Mutation	SNP	ENST00000367187.3	37	CCDS1446.1	.	.	.	.	.	.	.	.	.	.	T	16.70	3.195850	0.58126	.	.	ENSG00000133056	ENST00000367187;ENST00000424712	T;T	0.40756	1.02;1.02	5.43	5.43	0.79202	Phox homologous domain (5);	0.245918	0.39020	N	0.001482	T	0.30947	0.0781	L	0.33485	1.01	0.36309	D	0.857534	B;B	0.25048	0.005;0.117	B;B	0.24701	0.039;0.055	T	0.31971	-0.9924	10	0.24483	T	0.36	.	10.3944	0.44192	0.1461:0.0:0.0:0.8539	.	1420;1448	F5GWN5;O00750	.;P3C2B_HUMAN	G	1448;1420	ENSP00000356155:E1448G;ENSP00000400561:E1420G	ENSP00000356155:E1448G	E	-	2	0	PIK3C2B	202665727	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	3.779000	0.55379	2.056000	0.61249	0.533000	0.62120	GAG		0.682	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087965.1	NM_002646	
WDR26	80232	hgsc.bcm.edu	37	1	224585850	224585850	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr1:224585850G>T	ENST00000414423.2	-	12	1916	c.1723C>A	c.(1723-1725)Cat>Aat	p.H575N	MIR4742_ENST00000581069.1_RNA|WDR26_ENST00000479727.1_5'UTR|WDR26_ENST00000366852.2_3'UTR|WDR26_ENST00000295024.6_Missense_Mutation_p.H428N	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	575						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)		AAACATGAATGAATTGTATAA	0.368																																																	0			1											104.0	100.0	101.0					1																	224585850		2203	4300	6503	222652473	SO:0001583	missense	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.1723C>A	1.37:g.224585850G>T	ENSP00000408108:p.His575Asn		222652473	A0MNN3|Q4G100|Q59EC4|Q5GLZ9|Q86UY4|Q9H3C2	Missense_Mutation	SNP	ENST00000414423.2	37	CCDS31037.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.7|28.7	4.946321|4.946321	0.92593|0.92593	.|.	.|.	ENSG00000162923|ENSG00000162923	ENST00000414423;ENST00000295024|ENST00000480676	T;T|.	0.80393|.	-1.37;-1.37|.	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.65365|.	0.2684|.	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	D|.	0.65815|.	0.995|.	D|.	0.65233|.	0.933|.	T|.	0.60999|.	-0.7151|.	10|.	0.26408|.	T|.	0.33|.	.|.	18.8958|18.8958	0.92423|0.92423	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	559|.	Q9H7D7-2|.	.|.	N|X	575;428|208	ENSP00000408108:H575N;ENSP00000295024:H428N|.	ENSP00000295024:H428N|.	H|S	-|-	1|2	0|0	WDR26|WDR26	222652473|222652473	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.721000|9.721000	0.98766|0.98766	2.539000|2.539000	0.85634|0.85634	0.591000|0.591000	0.81541|0.81541	CAT|TCA		0.368	WDR26-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000091760.2	NM_025160	
DNAH14	127602	hgsc.bcm.edu	37	1	225477692	225477692	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr1:225477692G>T	ENST00000445597.2	+	35	6139	c.6139G>T	c.(6139-6141)Gaa>Taa	p.E2047*	DNAH14_ENST00000430092.1_Nonsense_Mutation_p.E2700*|DNAH14_ENST00000439375.2_Nonsense_Mutation_p.E2700*			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	2047					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						TGCCTACATCGAATTCAAAGA	0.363																																																	0			1											168.0	150.0	156.0					1																	225477692		692	1591	2283	223544315	SO:0001587	stop_gained	127602			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.6139G>T	1.37:g.225477692G>T	ENSP00000409472:p.Glu2047*		223544315	A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Nonsense_Mutation	SNP	ENST00000445597.2	37		.	.	.	.	.	.	.	.	.	.	G	23.2	4.386175	0.82902	.	.	ENSG00000185842	ENST00000445597;ENST00000430092;ENST00000439375	.	.	.	5.77	4.83	0.62350	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	.	9.724	0.40320	0.0771:0.144:0.7789:0.0	.	.	.	.	X	2047;2700;2700	.	ENSP00000414402:E2700X	E	+	1	0	DNAH14	223544315	0.999000	0.42202	0.770000	0.31555	0.049000	0.14656	3.458000	0.53014	1.383000	0.46405	0.603000	0.83216	GAA		0.363	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000331217.3	XM_059166	
RYR2	6262	hgsc.bcm.edu	37	1	237958597	237958597	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr1:237958597C>T	ENST00000366574.2	+	96	14239	c.13922C>T	c.(13921-13923)cCc>cTc	p.P4641L	RYR2_ENST00000542537.1_Missense_Mutation_p.P4625L|RYR2_ENST00000360064.6_Missense_Mutation_p.P4647L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4641					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGGTCATTTCCCAACAACTAC	0.249																																																	0			1											34.0	33.0	33.0					1																	237958597		1784	4036	5820	236025220	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.13922C>T	1.37:g.237958597C>T	ENSP00000355533:p.Pro4641Leu		236025220	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	32	5.106513	0.94292	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000536033	D;D;D	0.99507	-6.04;-6.04;-6.04	5.45	5.45	0.79879	.	0.000000	0.64402	D	0.000007	D	0.99530	0.9832	M	0.82056	2.57	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	D	0.98710	1.0704	10	0.87932	D	0	-16.0779	19.6346	0.95724	0.0:1.0:0.0:0.0	.	74;4641	F5H3C7;Q92736	.;RYR2_HUMAN	L	4641;4647;4625;74	ENSP00000355533:P4641L;ENSP00000353174:P4647L;ENSP00000443798:P4625L	ENSP00000353174:P4647L	P	+	2	0	RYR2	236025220	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.691000	0.84191	2.720000	0.93068	0.491000	0.48974	CCC		0.249	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
OR2T6	254879	hgsc.bcm.edu	37	1	248551009	248551009	+	Missense_Mutation	SNP	G	G	A	rs41308164	byFrequency	TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr1:248551009G>A	ENST00000355728.2	+	1	100	c.100G>A	c.(100-102)Gtc>Atc	p.V34I		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATTTGTGCCGTCTTCTTCAT	0.463													g|||	28	0.00559105	0.0008	0.0058	5008	,	,		15251	0.0		0.0149	False		,,,				2504	0.0082																0			1						G	ILE/VAL	20,4386	27.2+/-55.0	0,20,2183	192.0	168.0	176.0		100	-1.8	0.5	1	dbSNP_127	176	153,8447	75.1+/-137.7	0,153,4147	yes	missense	OR2T6	NM_001005471.1	29	0,173,6330	AA,AG,GG		1.7791,0.4539,1.3302	benign	34/309	248551009	173,12833	2203	4300	6503	246617632	SO:0001583	missense	254879			AF399481	CCDS31114.1	1q44	2012-08-09		2004-03-10	ENSG00000198104	ENSG00000198104		"""GPCR / Class A : Olfactory receptors"""	15018	protein-coding gene	gene with protein product				OR2T6P, OR2T9			Standard	NM_001005471		Approved	OST703	uc001iei.1	Q8NHC8	OTTHUMG00000040448	ENST00000355728.2:c.100G>A	1.37:g.248551009G>A	ENSP00000347965:p.Val34Ile		246617632	A6NE36	Missense_Mutation	SNP	ENST00000355728.2	37	CCDS31114.1	15	0.006868131868131868	1	0.0020325203252032522	3	0.008287292817679558	0	0.0	11	0.014511873350923483	G	0.009	-1.857046	0.00558	0.004539	0.017791	ENSG00000198104	ENST00000355728	T	0.01745	4.66	4.9	-1.82	0.07857	.	1.264950	0.05597	N	0.575585	T	0.00468	0.0015	N	0.03050	-0.425	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.45483	-0.9258	10	0.02654	T	1	.	10.5868	0.45288	0.4891:0.0:0.5109:0.0	rs41308164	34	Q8NHC8	OR2T6_HUMAN	I	34	ENSP00000347965:V34I	ENSP00000347965:V34I	V	+	1	0	OR2T6	246617632	0.000000	0.05858	0.547000	0.28179	0.331000	0.28603	-0.915000	0.04033	-0.544000	0.06232	-1.062000	0.02293	GTC		0.463	OR2T6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097344.1	NM_001005471	
IFITM3	10410	hgsc.bcm.edu	37	11	320649	320649	+	Silent	SNP	G	G	A	rs11553885	byFrequency	TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr11:320649G>A	ENST00000399808.4	-	1	401	c.165C>T	c.(163-165)ccC>ccT	p.P55P	RP11-326C3.11_ENST00000602756.1_RNA|RP11-326C3.11_ENST00000602429.1_RNA|IFITM3_ENST00000602735.1_Silent_p.P34P|RP11-326C3.10_ENST00000534271.1_RNA|RP11-326C3.11_ENST00000508004.2_RNA|IFITM3_ENST00000526811.1_Silent_p.P34P|RP11-326C3.14_ENST00000602809.1_lincRNA	NM_021034.2	NP_066362.2	Q01628	IFM3_HUMAN	interferon induced transmembrane protein 3	55					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|negative regulation of viral transcription (GO:0032897)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)		p.P55P(5)		central_nervous_system(7)|endometrium(7)|kidney(2)|large_intestine(1)|lung(1)	18		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGACATGGTCGGGCACGGAGG	0.637																																																	5	Substitution - coding silent(5)	endometrium(4)|central_nervous_system(1)	11											93.0	98.0	96.0					11																	320649		2062	4173	6235	310649	SO:0001819	synonymous_variant	10410			X57352	CCDS41585.1	11p15.5	2011-05-24	2011-05-24		ENSG00000142089	ENSG00000142089			5414	protein-coding gene	gene with protein product		605579	"""interferon induced transmembrane protein 3 (1-8U)"""			1906403, 16326387	Standard	NM_021034		Approved	1-8U	uc001lpa.2	Q01628		ENST00000399808.4:c.165C>T	11.37:g.320649G>A			310649	Q53Y76|Q96HK8|Q96J15	Silent	SNP	ENST00000399808.4	37	CCDS41585.1																																																																																				0.637	IFITM3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384765.1	NM_021034	
SLC22A18	5002	hgsc.bcm.edu	37	11	2946381	2946381	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr11:2946381T>C	ENST00000380574.1	+	11	1660	c.1229T>C	c.(1228-1230)gTc>gCc	p.V410A	SLC22A18_ENST00000347936.2_Missense_Mutation_p.V410A|SLC22A18_ENST00000441077.1_3'UTR|SLC22A18_ENST00000312221.5_Missense_Mutation_p.V410A|SLC22A18_ENST00000449793.2_Missense_Mutation_p.V312A			Q96BI1	S22AI_HUMAN	solute carrier family 22, member 18	410					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|excretion (GO:0007588)|organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|symporter activity (GO:0015293)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		GTCCTCCTGGTCCTCTGGAGG	0.592																																																	0			11											95.0	82.0	87.0					11																	2946381		2202	4299	6501	2902957	SO:0001583	missense	5002			AF028738	CCDS7740.1	11p15.5	2013-05-22	2008-01-11	2004-01-21	ENSG00000110628	ENSG00000110628		"""Solute carriers"""	10964	protein-coding gene	gene with protein product		602631	"""solute carrier family 22 (organic cation transporter), member 1-like"""	ORCTL2, BWSCR1A, IMPT1, SLC22A1L		9499412, 9520460	Standard	NM_183233		Approved	BWR1A, TSSC5, ITM	uc001lwx.3	Q96BI1	OTTHUMG00000010037	ENST00000380574.1:c.1229T>C	11.37:g.2946381T>C	ENSP00000369948:p.Val410Ala		2902957	O14906|O43562|O60485|O60680|Q7LDS5|Q7LGF7	Missense_Mutation	SNP	ENST00000380574.1	37	CCDS7740.1	.	.	.	.	.	.	.	.	.	.	T	11.62	1.692775	0.30052	.	.	ENSG00000110628	ENST00000347936;ENST00000312221;ENST00000449793;ENST00000380574	T;T;T;T	0.80994	-1.44;-1.44;0.34;-1.44	4.65	-2.94	0.05581	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.629830	0.03651	N	0.241059	T	0.69672	0.3137	L	0.44542	1.39	0.09310	N	1	B;B	0.23128	0.08;0.002	B;B	0.20384	0.029;0.005	T	0.47787	-0.9090	10	0.20519	T	0.43	-23.0371	4.7809	0.13201	0.2441:0.3891:0.0:0.3667	.	312;410	E9PRM7;Q96BI1	.;S22AI_HUMAN	A	410;410;312;410	ENSP00000307859:V410A;ENSP00000311139:V410A;ENSP00000392072:V312A;ENSP00000369948:V410A	ENSP00000311139:V410A	V	+	2	0	SLC22A18	2902957	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.062000	0.11674	-0.359000	0.08150	-0.379000	0.06801	GTC		0.592	SLC22A18-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027770.1	NM_183233	
OR5W2	390148	hgsc.bcm.edu	37	11	55681187	55681187	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr11:55681187C>T	ENST00000344514.1	-	1	871	c.872G>A	c.(871-873)aGc>aAc	p.S291N		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTTCCTCAGGCTATAAATCAG	0.343																																					Melanoma(48;171 1190 15239 43886 49348)												0			11											37.0	41.0	40.0					11																	55681187		2201	4296	6497	55437763	SO:0001583	missense	390148			BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.872G>A	11.37:g.55681187C>T	ENSP00000342448:p.Ser291Asn		55437763		Missense_Mutation	SNP	ENST00000344514.1	37	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098728	0.56183	.	.	ENSG00000187612	ENST00000344514	T	0.39056	1.1	5.01	5.01	0.66863	.	0.000000	0.47852	D	0.000219	T	0.78742	0.4331	H	0.99026	4.405	0.35965	D	0.834863	D	0.89917	1.0	D	0.77004	0.989	D	0.90443	0.4433	10	0.87932	D	0	.	15.8124	0.78576	0.0:1.0:0.0:0.0	.	291	Q8NH69	OR5W2_HUMAN	N	291	ENSP00000342448:S291N	ENSP00000342448:S291N	S	-	2	0	OR5W2	55437763	0.020000	0.18652	0.648000	0.29521	0.206000	0.24218	1.509000	0.35780	2.311000	0.77944	0.549000	0.68633	AGC		0.343	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960	
OR5W2	390148	hgsc.bcm.edu	37	11	55681277	55681277	+	Missense_Mutation	SNP	C	C	T	rs202102548		TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr11:55681277C>T	ENST00000344514.1	-	1	781	c.782G>A	c.(781-783)cGg>cAg	p.R261Q		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	261						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.R261Q(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGAACTTGGCCGGAAATACAT	0.443													C|||	1	0.000199681	0.0	0.0	5008	,	,		15067	0.0		0.0	False		,,,				2504	0.001				Melanoma(48;171 1190 15239 43886 49348)												1	Substitution - Missense(1)	pancreas(1)	11						C	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	80.0	92.0	88.0		782	5.0	0.0	11		88	1,8591	1.2+/-3.3	0,1,4295	yes	missense	OR5W2	NM_001001960.1	43	0,2,6495	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	261/311	55681277	2,12992	2201	4296	6497	55437853	SO:0001583	missense	390148			BK004398	CCDS31513.1	11q11	2012-08-09		2004-03-10	ENSG00000187612	ENSG00000187612		"""GPCR / Class A : Olfactory receptors"""	15299	protein-coding gene	gene with protein product				OR5W2P, OR5W3P			Standard	NM_001001960		Approved		uc010rir.2	Q8NH69	OTTHUMG00000166818	ENST00000344514.1:c.782G>A	11.37:g.55681277C>T	ENSP00000342448:p.Arg261Gln		55437853		Missense_Mutation	SNP	ENST00000344514.1	37	CCDS31513.1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026923	0.35797	2.27E-4	1.16E-4	ENSG00000187612	ENST00000344514	T	0.37235	1.21	5.01	5.01	0.66863	GPCR, rhodopsin-like superfamily (1);	0.000000	0.36167	N	0.002753	T	0.31857	0.0810	L	0.56199	1.76	0.09310	N	1	P	0.41524	0.753	B	0.42188	0.379	T	0.16748	-1.0392	10	0.10636	T	0.68	.	9.4436	0.38684	0.0:0.9031:0.0:0.0969	.	261	Q8NH69	OR5W2_HUMAN	Q	261	ENSP00000342448:R261Q	ENSP00000342448:R261Q	R	-	2	0	OR5W2	55437853	0.000000	0.05858	0.047000	0.18901	0.876000	0.50452	-0.083000	0.11286	2.311000	0.77944	0.549000	0.68633	CGG		0.443	OR5W2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391523.1	NM_001001960	
PITPNM1	9600	hgsc.bcm.edu	37	11	67260480	67260480	+	Silent	SNP	G	G	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr11:67260480G>A	ENST00000534749.1	-	22	3584	c.3396C>T	c.(3394-3396)taC>taT	p.Y1132Y	PITPNM1_ENST00000356404.3_Silent_p.Y1132Y|PITPNM1_ENST00000436757.2_Silent_p.Y1131Y|PITPNM1_ENST00000526450.1_5'Flank			O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	1132					brain development (GO:0007420)|lipid metabolic process (GO:0006629)|phospholipid transport (GO:0015914)|phototransduction (GO:0007602)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lipid particle (GO:0005811)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol transporter activity (GO:0008526)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CCAGCGCCGCGTATACAGCCA	0.642																																					GBM(28;144 709 4607 5525)												0			11											97.0	106.0	102.0					11																	67260480		2200	4295	6495	67017056	SO:0001819	synonymous_variant	9600			X98654	CCDS31620.1, CCDS44659.1	11q13	2008-07-21		2003-05-16	ENSG00000110697	ENSG00000110697			9003	protein-coding gene	gene with protein product	"""PYK2 N-terminal domain-interacting receptor 2"", ""retinal degeneration B alpha 1"""	608794		PITPNM		9680295	Standard	NM_004910		Approved	DRES9, NIR2, RDGB1, RDGBA1, Rd9, RDGB	uc001oly.3	O00562	OTTHUMG00000167675	ENST00000534749.1:c.3396C>T	11.37:g.67260480G>A			67017056	A6NME4|Q6T7X3|Q8TBN3|Q9BZ73	Silent	SNP	ENST00000534749.1	37	CCDS31620.1																																																																																				0.642	PITPNM1-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395520.1	NM_004910	
GRM5	2915	hgsc.bcm.edu	37	11	88338110	88338110	+	Missense_Mutation	SNP	A	A	C			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr11:88338110A>C	ENST00000305447.4	-	4	1319	c.1170T>G	c.(1168-1170)caT>caG	p.H390Q	GRM5_ENST00000418177.2_Missense_Mutation_p.H390Q|GRM5_ENST00000393297.1_Missense_Mutation_p.H390Q|GRM5_ENST00000455756.2_Missense_Mutation_p.H390Q|GRM5_ENST00000305432.5_Missense_Mutation_p.H390Q	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	390					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CCTGAACATGATGTGTTTTCA	0.453																																																	0			11											96.0	84.0	88.0					11																	88338110		2201	4299	6500	87977758	SO:0001583	missense	2915			D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.1170T>G	11.37:g.88338110A>C	ENSP00000306138:p.His390Gln		87977758	Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	A	11.36	1.617003	0.28801	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01;-2.01	5.59	3.1	0.35709	Extracellular ligand-binding receptor (1);	0.141948	0.64402	D	0.000003	T	0.54175	0.1842	N	0.01009	-1.055	0.32290	N	0.566441	B;B	0.02656	0.0;0.0	B;B	0.06405	0.0;0.002	T	0.50783	-0.8787	9	.	.	.	.	2.856	0.05572	0.481:0.318:0.0874:0.1136	.	390;390	P41594-2;P41594	.;GRM5_HUMAN	Q	390	ENSP00000402912:H390Q;ENSP00000405690:H390Q;ENSP00000305905:H390Q;ENSP00000306138:H390Q;ENSP00000376975:H390Q	.	H	-	3	2	GRM5	87977758	0.626000	0.27120	1.000000	0.80357	0.988000	0.76386	-0.105000	0.10907	1.055000	0.40461	0.445000	0.29226	CAT		0.453	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842	
SESN3	143686	hgsc.bcm.edu	37	11	94911901	94911901	+	Silent	SNP	T	T	C	rs548384430		TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr11:94911901T>C	ENST00000536441.1	-	7	1365	c.1029A>G	c.(1027-1029)gaA>gaG	p.E343E	SESN3_ENST00000278499.2_Silent_p.E204E|RP11-712B9.2_ENST00000534864.1_RNA|RP11-712B9.2_ENST00000534891.1_RNA	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	343					glucose homeostasis (GO:0042593)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)|response to insulin (GO:0032868)	nucleus (GO:0005634)				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		GCAAATGCTCTTCTCCTCGTC	0.348													T|||	1	0.000199681	0.0	0.0	5008	,	,		19041	0.0		0.0	False		,,,				2504	0.001																0			11											108.0	104.0	105.0					11																	94911901		2201	4298	6499	94551549	SO:0001819	synonymous_variant	143686			AK096300	CCDS8303.1, CCDS60938.1	11q21	2005-09-18			ENSG00000149212	ENSG00000149212			23060	protein-coding gene	gene with protein product		607768				12607115	Standard	NM_144665		Approved	SEST3, MGC29667	uc001pfj.4	P58005	OTTHUMG00000167829	ENST00000536441.1:c.1029A>G	11.37:g.94911901T>C			94551549	B7Z7P9|Q96AD1	Silent	SNP	ENST00000536441.1	37	CCDS8303.1																																																																																				0.348	SESN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396475.3	NM_144665	
PGR	5241	hgsc.bcm.edu	37	11	100922294	100922294	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr11:100922294G>A	ENST00000325455.5	-	5	3671	c.2218C>T	c.(2218-2220)Cga>Tga	p.R740*	PGR_ENST00000534013.1_Nonsense_Mutation_p.R146*|PGR_ENST00000263463.5_Nonsense_Mutation_p.R638*	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	740	Steroid-binding.				cell-cell signaling (GO:0007267)|epithelial cell maturation (GO:0002070)|gene expression (GO:0010467)|negative regulation of gene expression (GO:0010629)|ovulation from ovarian follicle (GO:0001542)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone receptor signaling pathway (GO:0050847)|regulation of epithelial cell proliferation (GO:0050678)|signal transduction (GO:0007165)|tertiary branching involved in mammary gland duct morphogenesis (GO:0060748)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Allylestrenol(DB01431)|Danazol(DB01406)|Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol(DB00823)|Etonogestrel(DB00294)|Fluticasone Propionate(DB00588)|Levonorgestrel(DB00367)|Medroxyprogesterone Acetate(DB00603)|Megestrol acetate(DB00351)|Mifepristone(DB00834)|Norelgestromin(DB06713)|Norethindrone(DB00717)|Norgestimate(DB00957)|Progesterone(DB00396)|Spironolactone(DB00421)	TGTAAGTTTCGAAAACCTACA	0.323																																					Pancreas(124;2271 2354 21954 22882)												0			11											72.0	74.0	73.0					11																	100922294		2203	4300	6503	100427504	SO:0001587	stop_gained	5241			M15716	CCDS8310.1, CCDS59229.1	11q22-q23	2013-01-16			ENSG00000082175	ENSG00000082175		"""Nuclear hormone receptors"""	8910	protein-coding gene	gene with protein product		607311					Standard	NM_000926		Approved	PR, NR3C3	uc001pgh.2	P06401	OTTHUMG00000167531	ENST00000325455.5:c.2218C>T	11.37:g.100922294G>A	ENSP00000325120:p.Arg740*		100427504	A7LQ08|A7X8B0|B4E3T0|Q8TDS3|Q9UPF7	Nonsense_Mutation	SNP	ENST00000325455.5	37	CCDS8310.1	.	.	.	.	.	.	.	.	.	.	G	40	8.184911	0.98696	.	.	ENSG00000082175	ENST00000325455;ENST00000534013;ENST00000263463;ENST00000537623	.	.	.	5.24	3.33	0.38152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.1701	0.59593	0.0:0.0:0.5806:0.4194	.	.	.	.	X	740;146;638;638	.	ENSP00000263463:R638X	R	-	1	2	PGR	100427504	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	3.982000	0.56909	0.554000	0.29061	0.650000	0.86243	CGA		0.323	PGR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394934.1		
CASP4	837	hgsc.bcm.edu	37	11	104821812	104821812	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr11:104821812T>C	ENST00000444739.2	-	4	1296	c.386A>G	c.(385-387)aAg>aGg	p.K129R	CASP4_ENST00000393150.3_Missense_Mutation_p.K73R|CASP4_ENST00000531333.1_5'UTR	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	129					apoptotic process (GO:0006915)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|IPAF inflammasome complex (GO:0072557)|membrane (GO:0016020)|mitochondrion (GO:0005739)|NLRP3 inflammasome complex (GO:0072559)	cysteine-type endopeptidase activity (GO:0004197)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		GTTTCTCTCCTTTATTGGATA	0.433																																																	0			11											170.0	159.0	163.0					11																	104821812		2202	4299	6501	104327022	SO:0001583	missense	837			U25804	CCDS8327.1, CCDS41704.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000196954	ENSG00000196954		"""Caspases"""	1505	protein-coding gene	gene with protein product		602664	"""caspase 4, apoptosis-related cysteine protease"""			7797510, 9250871	Standard	NM_001225		Approved	ICE(rel)II, ICH-2, TX	uc001pid.1	P49662	OTTHUMG00000166078	ENST00000444739.2:c.386A>G	11.37:g.104821812T>C	ENSP00000388566:p.Lys129Arg		104327022	A2NHL8|A2NHM0	Missense_Mutation	SNP	ENST00000444739.2	37	CCDS8327.1	.	.	.	.	.	.	.	.	.	.	T	2.828	-0.243184	0.05906	.	.	ENSG00000196954	ENST00000444739;ENST00000393150;ENST00000355546;ENST00000417440	T;T;T	0.43294	0.95;0.95;0.95	4.1	2.88	0.33553	Peptidase C14, caspase precursor p45, core (1);	0.800156	0.11608	N	0.547138	T	0.36026	0.0952	M	0.65975	2.015	0.30853	N	0.73433	B;B	0.20671	0.047;0.023	B;B	0.22880	0.028;0.042	T	0.35992	-0.9766	10	0.28530	T	0.3	.	2.9652	0.05906	0.2315:0.1213:0.0:0.6472	.	129;129	B4E2D2;P49662	.;CASP4_HUMAN	R	129;73;82;129	ENSP00000388566:K129R;ENSP00000376857:K73R;ENSP00000401673:K129R	ENSP00000347741:K82R	K	-	2	0	CASP4	104327022	0.086000	0.21541	0.941000	0.38009	0.187000	0.23431	-0.027000	0.12371	1.690000	0.51089	0.528000	0.53228	AAG		0.433	CASP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387751.1	NM_001225	
ATM	472	hgsc.bcm.edu	37	11	108143300	108143300	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr11:108143300T>C	ENST00000452508.2	+	22	3308	c.3119T>C	c.(3118-3120)aTg>aCg	p.M1040T	ATM_ENST00000278616.4_Missense_Mutation_p.M1040T			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1040			M -> V (in B-cell non-Hodgkin lymphoma; dbSNP:rs3092857). {ECO:0000269|PubMed:9288106}.		brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TCTGTAAGAATGGCCCTAGTA	0.299			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0			11											114.0	118.0	117.0					11																	108143300		2201	4298	6499	107648510	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.3119T>C	11.37:g.108143300T>C	ENSP00000388058:p.Met1040Thr		107648510	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	T	5.907	0.351510	0.11182	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.71222	-0.55;-0.55;-0.55	5.43	4.3	0.51218	Armadillo-type fold (1);	0.532223	0.22706	N	0.056633	T	0.62600	0.2441	L	0.56769	1.78	0.22620	N	0.998926	B	0.20887	0.049	B	0.15870	0.014	T	0.50101	-0.8867	10	0.23891	T	0.37	.	8.8454	0.35168	0.0:0.1458:0.0:0.8542	.	1040	Q13315	ATM_HUMAN	T	1040	ENSP00000435747:M1040T;ENSP00000278616:M1040T;ENSP00000388058:M1040T	ENSP00000278616:M1040T	M	+	2	0	ATM	107648510	1.000000	0.71417	0.995000	0.50966	0.516000	0.34256	3.048000	0.49862	0.984000	0.38629	-0.290000	0.09829	ATG		0.299	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
VPS26B	112936	hgsc.bcm.edu	37	11	134114944	134114944	+	Silent	SNP	C	C	T	rs144967670	byFrequency	TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr11:134114944C>T	ENST00000281187.5	+	5	1312	c.834C>T	c.(832-834)gaC>gaT	p.D278D	VPS26B_ENST00000525095.2_Silent_p.D278D	NM_052875.3	NP_443107.1	Q4G0F5	VP26B_HUMAN	vacuolar protein sorting 26 homolog B (S. pombe)	278					protein transport (GO:0015031)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		TGCTGATAGACGAGGAGGAGC	0.597											OREG0021548	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C|||	39	0.00778754	0.028	0.0029	5008	,	,		20828	0.0		0.0	False		,,,				2504	0.0				Colon(171;1263 1952 15904 45703 47982)												0			11						C		93,4309	76.2+/-114.5	1,91,2109	78.0	68.0	71.0		834	-9.5	0.3	11	dbSNP_134	71	2,8592	2.2+/-6.3	0,2,4295	no	coding-synonymous	VPS26B	NM_052875.3		1,93,6404	TT,TC,CC		0.0233,2.1127,0.731		278/337	134114944	95,12901	2201	4297	6498	133620154	SO:0001819	synonymous_variant	112936				CCDS8495.1	11q25	2008-02-05	2007-01-12		ENSG00000151502	ENSG00000151502			28119	protein-coding gene	gene with protein product		610027	"""vacuolar protein sorting 26 homolog B (yeast)"""			16190980	Standard	NM_052875		Approved	MGC10485, Pep8b	uc001qhe.3	Q4G0F5	OTTHUMG00000167175	ENST00000281187.5:c.834C>T	11.37:g.134114944C>T		1608	133620154	Q96A55	Silent	SNP	ENST00000281187.5	37	CCDS8495.1																																																																																				0.597	VPS26B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393591.1	NM_052875	
PHACTR1	221692	hgsc.bcm.edu	37	6	13053618	13053618	+	Missense_Mutation	SNP	C	C	T	rs200804785		TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr6:13053618C>T	ENST00000379350.1	+	4	401	c.272C>T	c.(271-273)gCg>gTg	p.A91V	PHACTR1_ENST00000457702.2_5'UTR|PHACTR1_ENST00000482982.1_3'UTR|PHACTR1_ENST00000379345.2_5'UTR|PHACTR1_ENST00000332995.7_Missense_Mutation_p.A91V			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	91					actin cytoskeleton reorganization (GO:0031532)|actomyosin structure organization (GO:0031032)|cell motility (GO:0048870)|stress fiber assembly (GO:0043149)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)|synapse (GO:0045202)	actin binding (GO:0003779)|protein phosphatase inhibitor activity (GO:0004864)			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GAGAGGCTGGCGGCGATGCGT	0.498																																																	0			6											30.0	32.0	31.0					6																	13053618		1943	4150	6093	13161604	SO:0001583	missense	221692			AB051520	CCDS75401.1	6p23	2013-01-24	2004-05-20	2004-05-21	ENSG00000112137	ENSG00000112137		"""Phosphatase and actin regulators"""	20990	protein-coding gene	gene with protein product		608723	"""RPEL repeat containing 1"""	RPEL1		11214970, 15107502	Standard	NM_030948		Approved	KIAA1733, dJ257A7.2	uc010jpc.3	Q9C0D0	OTTHUMG00000014270	ENST00000379350.1:c.272C>T	6.37:g.13053618C>T	ENSP00000368655:p.Ala91Val		13161604	A8K1V2|Q3MJ93|Q5JSJ2	Missense_Mutation	SNP	ENST00000379350.1	37		.	.	.	.	.	.	.	.	.	.	C	20.9	4.068465	0.76301	.	.	ENSG00000112137	ENST00000379350;ENST00000332995;ENST00000432934	T;T	0.34859	1.34;1.36	5.84	4.98	0.66077	.	0.274234	0.33515	N	0.004823	T	0.15912	0.0383	L	0.32530	0.975	0.80722	D	1	B;B;B	0.18013	0.021;0.008;0.025	B;B;B	0.11329	0.004;0.003;0.006	T	0.03534	-1.1027	10	0.46703	T	0.11	-12.9976	14.0076	0.64473	0.0:0.9278:0.0:0.0722	.	91;91;91	E7ESR5;Q9C0D0;Q9C0D0-2	.;PHAR1_HUMAN;.	V	91	ENSP00000368655:A91V;ENSP00000329880:A91V	ENSP00000329880:A91V	A	+	2	0	PHACTR1	13161604	1.000000	0.71417	0.992000	0.48379	0.828000	0.46876	4.912000	0.63335	1.494000	0.48533	0.609000	0.83330	GCG		0.498	PHACTR1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039876.1	XM_166420	
CDC5L	988	hgsc.bcm.edu	37	6	44374091	44374091	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr6:44374091A>G	ENST00000371477.3	+	7	1089	c.790A>G	c.(790-792)Aaa>Gaa	p.K264E		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	264	Interaction with PPP1R8.|Nuclear localization signal. {ECO:0000255}.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AAAAAAAGACAAACAGCATTT	0.294																																																	0			6											68.0	71.0	70.0					6																	44374091		2203	4299	6502	44482069	SO:0001583	missense	988			D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.790A>G	6.37:g.44374091A>G	ENSP00000360532:p.Lys264Glu		44482069	Q76N46|Q99974	Missense_Mutation	SNP	ENST00000371477.3	37	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	A	17.76	3.469486	0.63625	.	.	ENSG00000096401	ENST00000371477	T	0.48201	0.82	5.62	5.62	0.85841	.	0.192563	0.56097	D	0.000038	T	0.26810	0.0656	L	0.46741	1.465	0.58432	D	0.999994	B	0.12630	0.006	B	0.18263	0.021	T	0.09422	-1.0675	10	0.25751	T	0.34	-22.1518	14.3835	0.66926	1.0:0.0:0.0:0.0	.	264	Q99459	CDC5L_HUMAN	E	264	ENSP00000360532:K264E	ENSP00000360532:K264E	K	+	1	0	CDC5L	44482069	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.809000	0.91944	2.138000	0.66242	0.455000	0.32223	AAA		0.294	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1		
COL12A1	1303	hgsc.bcm.edu	37	6	75833987	75833987	+	Silent	SNP	T	T	C			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr6:75833987T>C	ENST00000322507.8	-	41	7017	c.6708A>G	c.(6706-6708)aaA>aaG	p.K2236K	COL12A1_ENST00000483888.2_Silent_p.K2236K|COL12A1_ENST00000345356.6_Silent_p.K1072K|COL12A1_ENST00000416123.2_Silent_p.K2236K	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2236	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.K2236K(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CAGGGCTTAGTTTTAGCCTGT	0.378																																																	1	Substitution - coding silent(1)	ovary(1)	6											62.0	60.0	61.0					6																	75833987		1843	4102	5945	75890707	SO:0001819	synonymous_variant	1303			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.6708A>G	6.37:g.75833987T>C			75890707	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Silent	SNP	ENST00000322507.8	37	CCDS43482.1																																																																																				0.378	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370	
ZBTB24	9841	hgsc.bcm.edu	37	6	109796640	109796640	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr6:109796640T>C	ENST00000230122.3	-	5	1417	c.1250A>G	c.(1249-1251)gAt>gGt	p.D417G		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	417					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		CTGAGACACATCCATGAATTT	0.458																																																	0			6											225.0	183.0	197.0					6																	109796640		2203	4300	6503	109903333	SO:0001583	missense	9841			AB007901	CCDS34509.1	6q21	2014-09-17	2004-04-15	2004-04-16	ENSG00000112365	ENSG00000112365		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	21143	protein-coding gene	gene with protein product	"""POZ (BTB) and AT hook containing zinc finger 2"""	614064	"""zinc finger protein 450"""	ZNF450		9455477	Standard	NM_014797		Approved	KIAA0441, BIF1, PATZ2	uc003ptl.1	O43167	OTTHUMG00000015349	ENST00000230122.3:c.1250A>G	6.37:g.109796640T>C	ENSP00000230122:p.Asp417Gly		109903333	Q17RC6|Q5TED5|Q8N455	Missense_Mutation	SNP	ENST00000230122.3	37	CCDS34509.1	.	.	.	.	.	.	.	.	.	.	T	21.1	4.091401	0.76756	.	.	ENSG00000112365	ENST00000230122	T	0.07327	3.2	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.15565	0.0375	L	0.46614	1.455	0.54753	D	0.999988	D	0.89917	1.0	D	0.87578	0.998	T	0.01202	-1.1420	10	0.42905	T	0.14	-33.7729	16.8222	0.85835	0.0:0.0:0.0:1.0	.	417	O43167	ZBT24_HUMAN	G	417	ENSP00000230122:D417G	ENSP00000230122:D417G	D	-	2	0	ZBTB24	109903333	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.542000	0.82095	2.371000	0.80710	0.533000	0.62120	GAT		0.458	ZBTB24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041758.1	NM_014797	
LAMA4	3910	hgsc.bcm.edu	37	6	112461971	112461971	+	Silent	SNP	G	G	T			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr6:112461971G>T	ENST00000230538.7	-	22	3364	c.2967C>A	c.(2965-2967)tcC>tcA	p.S989S	LAMA4_ENST00000389463.4_Silent_p.S982S|LAMA4_ENST00000424408.2_Silent_p.S982S|LAMA4_ENST00000522006.1_Silent_p.S982S	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	989	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CCTTGAAGTTGGAAGGCACTC	0.408																																																	0			6											77.0	71.0	73.0					6																	112461971		2203	4300	6503	112568664	SO:0001819	synonymous_variant	3910				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.2967C>A	6.37:g.112461971G>T			112568664	Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Silent	SNP	ENST00000230538.7	37	CCDS43491.1																																																																																				0.408	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000041876.2	NM_001105206	
OPRM1	4988	hgsc.bcm.edu	37	6	154360660	154360660	+	5'UTR	SNP	C	C	G			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr6:154360660C>G	ENST00000330432.7	+	0	218				OPRM1_ENST00000523520.1_3'UTR|OPRM1_ENST00000428397.2_5'UTR|OPRM1_ENST00000414028.2_5'UTR|OPRM1_ENST00000524163.1_5'UTR|OPRM1_ENST00000337049.4_5'UTR|OPRM1_ENST00000434900.2_Missense_Mutation_p.A87G|OPRM1_ENST00000518759.1_Intron|OPRM1_ENST00000520708.1_Intron|OPRM1_ENST00000419506.2_5'UTR|OPRM1_ENST00000360422.4_5'UTR|OPRM1_ENST00000452687.2_5'UTR|OPRM1_ENST00000229768.5_5'UTR|OPRM1_ENST00000435918.2_5'UTR	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1						adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CACAGCGGTGCCCGCCCGGCC	0.632																																																	0			6											21.0	29.0	26.0					6																	154360660		2037	4172	6209	154402353	SO:0001623	5_prime_UTR_variant	4988			L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.-20C>G	6.37:g.154360660C>G			154402353	B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	ENST00000330432.7	37	CCDS55070.1	.	.	.	.	.	.	.	.	.	.	C	9.856	1.194939	0.22037	.	.	ENSG00000112038	ENST00000520282;ENST00000434900	T;T	0.70749	3.87;-0.51	3.44	0.317	0.15861	.	25.302500	0.00357	N	0.000033	T	0.29588	0.0738	N	0.08118	0	0.21325	N	0.999722	B	0.13145	0.007	B	0.13407	0.009	T	0.18147	-1.0346	10	0.48119	T	0.1	.	7.2158	0.25959	0.3599:0.4845:0.1556:0.0	.	87	P35372-10	.	G	42;87	ENSP00000430247:A42G;ENSP00000394624:A87G	ENSP00000394624:A87G	A	+	2	0	OPRM1	154402353	0.004000	0.15560	0.009000	0.14445	0.019000	0.09904	1.230000	0.32612	0.034000	0.15491	-0.995000	0.02519	GCC		0.632	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000042786.2	NM_000914	
PLD2	5338	hgsc.bcm.edu	37	17	4720029	4720029	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr17:4720029C>T	ENST00000263088.6	+	15	1701	c.1570C>T	c.(1570-1572)Cgg>Tgg	p.R524W	PLD2_ENST00000572940.1_Missense_Mutation_p.R524W	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	524	Catalytic.				cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GCAGCTGGACCGGCCTTTCGA	0.592																																																	0			17											123.0	118.0	120.0					17																	4720029		2203	4300	6503	4666995	SO:0001583	missense	5338			AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.1570C>T	17.37:g.4720029C>T	ENSP00000263088:p.Arg524Trp		4666995	I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	ENST00000263088.6	37	CCDS11057.1	.	.	.	.	.	.	.	.	.	.	C	13.82	2.352337	0.41700	.	.	ENSG00000129219	ENST00000263088	T	0.07114	3.22	4.62	2.54	0.30619	.	0.468291	0.22734	N	0.056290	T	0.20251	0.0487	M	0.78049	2.395	0.40608	D	0.981646	D;D;D	0.67145	0.996;0.989;0.991	B;P;P	0.54924	0.409;0.764;0.586	T	0.01966	-1.1238	10	0.72032	D	0.01	-12.1604	10.3667	0.44028	0.5195:0.4805:0.0:0.0	.	381;524;524	B7Z905;O14939-2;O14939	.;.;PLD2_HUMAN	W	524	ENSP00000263088:R524W	ENSP00000263088:R524W	R	+	1	2	PLD2	4666995	0.998000	0.40836	1.000000	0.80357	0.436000	0.31835	1.004000	0.29822	0.515000	0.28320	-0.310000	0.09108	CGG		0.592	PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663	
CHD3	1107	hgsc.bcm.edu	37	17	7810508	7810508	+	Silent	SNP	A	A	G			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr17:7810508A>G	ENST00000330494.7	+	31	4881	c.4731A>G	c.(4729-4731)gaA>gaG	p.E1577E	CHD3_ENST00000380358.4_Silent_p.E1636E|SCARNA21_ENST00000517026.1_RNA|CHD3_ENST00000358181.4_Silent_p.E1577E	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1577	Required for interaction with PCNT.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AGGAAGCTGAAAACCAGGAGG	0.537																																																	0			17											103.0	107.0	105.0					17																	7810508		2203	4300	6503	7751233	SO:0001819	synonymous_variant	1107			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.4731A>G	17.37:g.7810508A>G			7751233	D3DTQ9|E9PG89|Q9Y4I0	Silent	SNP	ENST00000330494.7	37	CCDS32554.1																																																																																				0.537	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273	
UNC45B	146862	hgsc.bcm.edu	37	17	33482457	33482457	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr17:33482457G>A	ENST00000268876.5	+	7	879	c.782G>A	c.(781-783)cGa>cAa	p.R261Q	UNC45B_ENST00000378449.1_Missense_Mutation_p.R261Q|UNC45B_ENST00000394570.2_Missense_Mutation_p.R261Q|UNC45B_ENST00000433649.1_Missense_Mutation_p.R261Q|UNC45B_ENST00000591048.1_Missense_Mutation_p.R261Q	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	261					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CGGGAGCATCGAGGGAAGGAG	0.527																																																	0			17											200.0	140.0	161.0					17																	33482457		2203	4300	6503	30506570	SO:0001583	missense	146862			AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.782G>A	17.37:g.33482457G>A	ENSP00000268876:p.Arg261Gln		30506570	Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	G	15.99	2.995021	0.54041	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.07021	3.24;3.24;3.24;3.23	5.97	1.76	0.24704	Armadillo-like helical (1);Armadillo-type fold (1);	0.243876	0.41294	N	0.000917	T	0.06962	0.0177	L	0.47190	1.495	0.09310	N	0.999998	P;P;P	0.45902	0.868;0.579;0.796	B;B;B	0.39339	0.297;0.049;0.104	T	0.27773	-1.0064	10	0.52906	T	0.07	0.031	5.2115	0.15318	0.3131:0.1387:0.5483:0.0	.	261;261;261	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	Q	261	ENSP00000378071:R261Q;ENSP00000268876:R261Q;ENSP00000412840:R261Q;ENSP00000367710:R261Q	ENSP00000268876:R261Q	R	+	2	0	UNC45B	30506570	0.040000	0.19996	0.845000	0.33349	0.988000	0.76386	1.007000	0.29860	0.128000	0.18479	0.561000	0.74099	CGA		0.527	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167	
AOC3	8639	hgsc.bcm.edu	37	17	41004241	41004241	+	Missense_Mutation	SNP	A	A	T			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr17:41004241A>T	ENST00000308423.2	+	1	1041	c.881A>T	c.(880-882)aAt>aTt	p.N294I	AOC3_ENST00000591562.1_5'Flank	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	294					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	ATCCCAGACAATGGCACAGGT	0.622																																					NSCLC(3;192 220 10664 11501 16477)												0			17											14.0	15.0	15.0					17																	41004241		2200	4294	6494	38257767	SO:0001583	missense	8639			AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.881A>T	17.37:g.41004241A>T	ENSP00000312326:p.Asn294Ile		38257767	B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	ENST00000308423.2	37	CCDS11444.1	.	.	.	.	.	.	.	.	.	.	A	7.628	0.678254	0.14841	.	.	ENSG00000131471	ENST00000308423	T	0.18174	2.23	4.15	4.15	0.48705	Copper amine oxidase, N-terminal (1);	0.271361	0.35970	N	0.002878	T	0.10337	0.0253	N	0.24115	0.695	0.09310	N	1	B	0.23735	0.09	B	0.23150	0.044	T	0.16571	-1.0398	10	0.35671	T	0.21	.	6.6096	0.22743	0.8513:0.0:0.1487:0.0	.	294	Q16853	AOC3_HUMAN	I	294	ENSP00000312326:N294I	ENSP00000312326:N294I	N	+	2	0	AOC3	38257767	0.025000	0.19082	0.999000	0.59377	0.952000	0.60782	2.246000	0.43142	1.890000	0.54733	0.402000	0.26972	AAT		0.622	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452444.1	NM_003734	
CYTH1	9267	hgsc.bcm.edu	37	17	76694351	76694351	+	Splice_Site	SNP	C	C	T			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr17:76694351C>T	ENST00000446868.3	-	9	881	c.811G>A	c.(811-813)Gga>Aga	p.G271R	RNU6-638P_ENST00000516582.1_RNA|CYTH1_ENST00000585509.1_Splice_Site_p.G212R|CYTH1_ENST00000361101.4_Splice_Site_p.G271R|CYTH1_ENST00000589297.1_Splice_Site_p.G212R|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000591455.1_Splice_Site_p.G271S			Q15438	CYH1_HUMAN	cytohesin 1	271	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.|Phosphatidylinositol 3,4,5-trisphosphate binding. {ECO:0000250}.				establishment of epithelial cell polarity (GO:0090162)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|lipid binding (GO:0008289)			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						GTGCGCTTACCGAGTTTCAAT	0.517																																																	0			17											128.0	120.0	122.0					17																	76694351		2203	4300	6503	74205946	SO:0001630	splice_region_variant	9267			M85169	CCDS32754.1, CCDS42392.2	17q25	2014-05-02	2008-08-14	2008-08-14	ENSG00000108669	ENSG00000108669		"""Pleckstrin homology (PH) domain containing"""	9501	protein-coding gene	gene with protein product		182115	"""pleckstrin homology, Sec7 and coiled-coil domains 1"""	PSCD1		1511013, 8449036, 21628335, 20018626	Standard	XM_006722180		Approved	B2-1, D17S811E, cytohesin-1	uc002jvw.3	Q15438	OTTHUMG00000150253	ENST00000446868.3:c.811+1G>A	17.37:g.76694351C>T			74205946	A6NFW7|B7Z1T4|Q9P123|Q9P124	Missense_Mutation	SNP	ENST00000446868.3	37		.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	23.1|23.1|23.1	4.376277|4.376277|4.376277	0.82682|0.82682|0.82682	.|.|.	.|.|.	ENSG00000108669|ENSG00000108669|ENSG00000108669	ENST00000392453|ENST00000446868;ENST00000361101;ENST00000539525;ENST00000537048|ENST00000262763	.|T;T|.	.|0.76186|.	.|-1.0;-1.0|.	4.65|4.65|4.65	4.65|4.65|4.65	0.58169|0.58169|0.58169	.|.|.	9.163480|.|.	0.04994|.|.	U|.|.	0.467853|.|.	T|T|T	0.64886|0.64886|0.64886	0.2639|0.2639|0.2639	L|L|L	0.55481|0.55481|0.55481	1.735|1.735|1.735	0.48511|0.48511|0.48511	D|D|D	0.999667|0.999667|0.999667	.|.|D	.|.|0.58268	.|.|0.982	.|.|P	.|.|0.52109	.|.|0.69	T|T|T	0.68546|0.68546|0.68546	-0.5380|-0.5380|-0.5380	7|7|8	0.17369|0.51188|0.54805	T|T|T	0.5|0.08|0.06	.|.|.	17.7221|17.7221|17.7221	0.88355|0.88355|0.88355	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|271	.|.|Q15438-2	.|.|.	T|R|S	108|271;271;212;212|271	.|ENSP00000389095:G271R;ENSP00000354398:G271R|.	ENSP00000376247:A108T|ENSP00000354398:G271R|ENSP00000262763:G271S	A|G|G	-|-|-	1|1|1	0|0|0	CYTH1|CYTH1|CYTH1	74205946|74205946|74205946	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	0.997000|0.997000|0.997000	0.53966|0.53966|0.53966	0.687000|0.687000|0.687000	0.40016|0.40016|0.40016	7.500000|7.500000|7.500000	0.81588|0.81588|0.81588	2.388000|2.388000|2.388000	0.81334|0.81334|0.81334	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	GCA|GGA|GGT		0.517	CYTH1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317099.1	NM_004762	Missense_Mutation
CBX2	84733	hgsc.bcm.edu	37	17	77757651	77757651	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr17:77757651C>T	ENST00000310942.4	+	5	513	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	137					cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|development of primary sexual characteristics (GO:0045137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|heterochromatin (GO:0000792)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.R137C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCCCCGGGGCCGCGAGACCCA	0.602																																																	1	Substitution - Missense(1)	endometrium(1)	17											40.0	36.0	38.0					17																	77757651		2194	4299	6493	75372246	SO:0001583	missense	84733			BC004252, BG354579	CCDS11764.1, CCDS32757.1	17q25.3	2010-07-06	2010-06-24		ENSG00000173894	ENSG00000173894			1552	protein-coding gene	gene with protein product	"""Pc class homolog (Drosophila)"""	602770	"""chromobox homolog 2 (Drosophila Pc class)"", ""cell division cycle associated 6"""	CDCA6		7782071, 2477932	Standard	NM_005189		Approved	MGC10561	uc002jxc.3	Q14781		ENST00000310942.4:c.409C>T	17.37:g.77757651C>T	ENSP00000308750:p.Arg137Cys		75372246	Q0VDA5|Q9BTB1	Missense_Mutation	SNP	ENST00000310942.4	37	CCDS32757.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.149625	0.57151	.	.	ENSG00000173894	ENST00000310942	.	.	.	5.47	5.47	0.80525	.	0.651748	0.16150	N	0.227282	T	0.67078	0.2855	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.67473	-0.5662	9	0.66056	D	0.02	2.4041	14.1022	0.65065	0.1875:0.8125:0.0:0.0	.	137	Q14781	CBX2_HUMAN	C	137	.	ENSP00000308750:R137C	R	+	1	0	CBX2	75372246	1.000000	0.71417	0.998000	0.56505	0.467000	0.32768	1.729000	0.38115	2.577000	0.86979	0.655000	0.94253	CGC		0.602	CBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437040.1	NM_032647	
SEC14L5	9717	hgsc.bcm.edu	37	16	5061267	5061267	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr16:5061267G>T	ENST00000251170.7	+	15	2152	c.1972G>T	c.(1972-1974)Gac>Tac	p.D658Y	RP11-165E7.1_ENST00000588778.1_RNA	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	658						integral component of membrane (GO:0016021)|intracellular (GO:0005622)	transporter activity (GO:0005215)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						CGCCTCTGAGGACTTCAGGTA	0.642																																																	0			16											24.0	26.0	25.0					16																	5061267		1926	4128	6054	5001268	SO:0001583	missense	9717			AB007880	CCDS45403.1	16p13.3	2008-02-05				ENSG00000103184			29032	protein-coding gene	gene with protein product						9455477	Standard	NM_014692		Approved	KIAA0420, PRELID4B	uc002cye.2	O43304		ENST00000251170.7:c.1972G>T	16.37:g.5061267G>T	ENSP00000251170:p.Asp658Tyr		5001268		Missense_Mutation	SNP	ENST00000251170.7	37	CCDS45403.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.032987	0.75504	.	.	ENSG00000103184	ENST00000251170	T	0.43294	0.95	4.45	4.45	0.53987	GOLD (1);	0.000000	0.85682	D	0.000000	T	0.66858	0.2832	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.73380	0.98	T	0.73075	-0.4097	10	0.87932	D	0	-5.8533	17.6471	0.88151	0.0:0.0:1.0:0.0	.	658	O43304	S14L5_HUMAN	Y	658	ENSP00000251170:D658Y	ENSP00000251170:D658Y	D	+	1	0	SEC14L5	5001268	1.000000	0.71417	0.994000	0.49952	0.705000	0.40729	7.295000	0.78780	2.490000	0.84030	0.561000	0.74099	GAC		0.642	SEC14L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434379.1		
SLC12A4	6560	hgsc.bcm.edu	37	16	67991647	67991647	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr16:67991647G>T	ENST00000316341.3	-	5	682	c.542C>A	c.(541-543)cCa>cAa	p.P181Q	SLC12A4_ENST00000537830.2_Missense_Mutation_p.P175Q|SLC12A4_ENST00000572037.1_Missense_Mutation_p.P133Q|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000541864.2_Missense_Mutation_p.P150Q|SLC12A4_ENST00000422611.2_Missense_Mutation_p.P183Q|SLC12A4_ENST00000338335.3_Missense_Mutation_p.P181Q|SLC12A4_ENST00000576616.1_Missense_Mutation_p.P181Q	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	181					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)			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)	TCACTGACCTGGAACCACACC	0.627																																																	0			16											104.0	90.0	94.0					16																	67991647		2198	4300	6498	66549148	SO:0001583	missense	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.542C>A	16.37:g.67991647G>T	ENSP00000318557:p.Pro181Gln		66549148	B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	ENST00000316341.3	37	CCDS10855.1	.	.	.	.	.	.	.	.	.	.	G	17.60	3.429975	0.62844	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.98531	-4.98;-4.98;-4.98;-4.98;-4.98	4.97	4.0	0.46444	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.98520	0.9506	M	0.64080	1.96	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.987;0.993;0.999;1.0;0.984;0.979;0.996	D;D;D;D;P;P;D	0.91635	0.941;0.963;0.997;0.999;0.839;0.907;0.987	D	0.99372	1.0920	10	0.66056	D	0.02	.	14.9214	0.70841	0.0:0.0:0.8556:0.1444	.	183;181;150;133;175;181;181	F5H3C0;B4DF30;F5H066;B4DF69;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;.;S12A4_HUMAN	Q	183;150;175;181;181	ENSP00000395983:P183Q;ENSP00000438334:P150Q;ENSP00000445962:P175Q;ENSP00000343374:P181Q;ENSP00000318557:P181Q	ENSP00000318557:P181Q	P	-	2	0	SLC12A4	66549148	1.000000	0.71417	1.000000	0.80357	0.184000	0.23303	9.813000	0.99286	1.198000	0.43158	0.591000	0.81541	CCA		0.627	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268864.4	NM_005072	
KARS	3735	hgsc.bcm.edu	37	16	75662509	75662509	+	Silent	SNP	A	A	G			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr16:75662509A>G	ENST00000302445.3	-	13	1692	c.1653T>C	c.(1651-1653)atT>atC	p.I551I	KARS_ENST00000568378.1_Intron|KARS_ENST00000319410.5_Silent_p.I579I	NM_005548.2	NP_005539.1	Q15046	SYK_HUMAN	lysyl-tRNA synthetase	551					cell death (GO:0008219)|diadenosine tetraphosphate biosynthetic process (GO:0015966)|gene expression (GO:0010467)|lysyl-tRNA aminoacylation (GO:0006430)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)|viral process (GO:0016032)	aminoacyl-tRNA synthetase multienzyme complex (GO:0017101)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|microtubule cytoskeleton (GO:0015630)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	amino acid binding (GO:0016597)|ATP binding (GO:0005524)|lysine-tRNA ligase activity (GO:0004824)|metal ion binding (GO:0046872)|tRNA binding (GO:0000049)			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	CGACTCGATCAATGCCCATGC	0.542																																																	0			16											94.0	91.0	92.0					16																	75662509		2198	4300	6498	74220010	SO:0001819	synonymous_variant	3735			AF285758	CCDS10923.1, CCDS45532.1	16q23.1	2014-09-17			ENSG00000065427	ENSG00000065427	6.1.1.6	"""Aminoacyl tRNA synthetases / Class II"""	6215	protein-coding gene	gene with protein product	"""lysine tRNA ligase"""	601421	"""deafness, autosomal recessive 89"""	DFNB89		8812440, 9278442, 23768514	Standard	NM_005548		Approved	KARS2, KARS1	uc002fer.3	Q15046	OTTHUMG00000137609	ENST00000302445.3:c.1653T>C	16.37:g.75662509A>G			74220010	A8MSK1|D3DUK4|O14946|Q96J25|Q9HB23	Silent	SNP	ENST00000302445.3	37	CCDS10923.1																																																																																				0.542	KARS-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000269023.1	NM_005548	
PLCG2	5336	hgsc.bcm.edu	37	16	81922793	81922793	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr16:81922793A>G	ENST00000359376.3	+	10	996	c.782A>G	c.(781-783)gAt>gGt	p.D261G		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	261					B cell differentiation (GO:0030183)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid catabolic process (GO:0009395)|platelet activation (GO:0030168)|release of sequestered calcium ion into cytosol (GO:0051209)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TGGGCTCAGGATCTGAACAAA	0.463																																																	0			16											148.0	137.0	140.0					16																	81922793		1975	4154	6129	80480294	SO:0001583	missense	5336				CCDS42204.1	16q24.1	2014-09-17				ENSG00000197943	3.1.4.11	"""SH2 domain containing"""	9066	protein-coding gene	gene with protein product		600220				7835906	Standard	XR_248240		Approved		uc002fgt.3	P16885		ENST00000359376.3:c.782A>G	16.37:g.81922793A>G	ENSP00000352336:p.Asp261Gly		80480294	D3DUL3|Q3ZTS2|Q59H45|Q969T5	Missense_Mutation	SNP	ENST00000359376.3	37	CCDS42204.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.281878	0.80692	.	.	ENSG00000197943	ENST00000359376	T	0.18338	2.22	4.74	4.74	0.60224	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);	0.095649	0.64402	D	0.000001	T	0.34454	0.0898	L	0.61218	1.895	0.80722	D	1	P;D	0.63046	0.562;0.992	B;P	0.59056	0.366;0.851	T	0.11494	-1.0585	10	0.72032	D	0.01	.	14.1961	0.65672	1.0:0.0:0.0:0.0	.	128;261	B4E3H3;P16885	.;PLCG2_HUMAN	G	261	ENSP00000352336:D261G	ENSP00000352336:D261G	D	+	2	0	PLCG2	80480294	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	8.474000	0.90413	1.900000	0.55004	0.460000	0.39030	GAT		0.463	PLCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432429.1		
MYOM1	8736	hgsc.bcm.edu	37	18	3188882	3188882	+	Missense_Mutation	SNP	C	C	T	rs200770047		TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr18:3188882C>T	ENST00000356443.4	-	4	968	c.635G>A	c.(634-636)aGg>aAg	p.R212K	MYOM1_ENST00000261606.7_Missense_Mutation_p.R212K|MYOM1_ENST00000400569.3_Missense_Mutation_p.R212K|RP13-270P17.2_ENST00000580139.1_RNA	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	212	6 X 6 AA tandem repeats.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.R212K(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CGTGGACTGCCTGGATGCCGT	0.517																																																	1	Substitution - Missense(1)	endometrium(1)	18											260.0	242.0	248.0					18																	3188882		2044	4187	6231	3178882	SO:0001583	missense	8736			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.635G>A	18.37:g.3188882C>T	ENSP00000348821:p.Arg212Lys		3178882	Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	CCDS45824.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	2.966	-0.213546	0.06140	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.45668	1.03;1.04;0.89	3.23	0.752	0.18398	.	0.084010	0.41097	N	0.000942	T	0.14830	0.0358	N	0.08118	0	0.09310	N	0.999995	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28808	-1.0032	10	0.05351	T	0.99	.	4.9448	0.13984	0.0:0.2653:0.0:0.7347	.	212;212	P52179-2;P52179	.;MYOM1_HUMAN	K	212	ENSP00000348821:R212K;ENSP00000383413:R212K;ENSP00000261606:R212K	ENSP00000261606:R212K	R	-	2	0	MYOM1	3178882	0.789000	0.28775	0.018000	0.16275	0.000000	0.00434	1.455000	0.35190	0.165000	0.19558	-1.097000	0.02148	AGG		0.517	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803	
DSG1	1828	hgsc.bcm.edu	37	18	28916353	28916353	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr18:28916353A>G	ENST00000257192.4	+	9	1254	c.1042A>G	c.(1042-1044)Agt>Ggt	p.S348G		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	348	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell-cell junction assembly (GO:0007043)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|homophilic cell adhesion (GO:0007156)|maternal process involved in female pregnancy (GO:0060135)|protein stabilization (GO:0050821)|response to progesterone (GO:0032570)|single organismal cell-cell adhesion (GO:0016337)	apical plasma membrane (GO:0016324)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)|toxic substance binding (GO:0015643)			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TCTGCAACTCAGTATTGGTGT	0.308																																																	0			18											69.0	67.0	68.0					18																	28916353		2203	4300	6503	27170351	SO:0001583	missense	1828			X56654	CCDS11896.1	18q12.1	2014-05-13			ENSG00000134760	ENSG00000134760		"""Cadherins / Major cadherins"""	3048	protein-coding gene	gene with protein product		125670		DSG		1889810	Standard	NM_001942		Approved	CDHF4	uc002kwp.3	Q02413	OTTHUMG00000131983	ENST00000257192.4:c.1042A>G	18.37:g.28916353A>G	ENSP00000257192:p.Ser348Gly		27170351	B7Z845	Missense_Mutation	SNP	ENST00000257192.4	37	CCDS11896.1	.	.	.	.	.	.	.	.	.	.	A	12.56	1.974439	0.34848	.	.	ENSG00000134760	ENST00000257192	T	0.53640	0.61	5.9	4.74	0.60224	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.38878	0.1057	L	0.39085	1.19	0.80722	D	1	B	0.19935	0.04	B	0.26864	0.074	T	0.13202	-1.0518	10	0.30078	T	0.28	.	11.7815	0.52018	0.9306:0.0:0.0694:0.0	.	348	Q02413	DSG1_HUMAN	G	348	ENSP00000257192:S348G	ENSP00000257192:S348G	S	+	1	0	DSG1	27170351	1.000000	0.71417	0.785000	0.31869	0.509000	0.34042	4.637000	0.61346	1.043000	0.40175	0.460000	0.39030	AGT		0.308	DSG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254947.1	NM_001942	
SMAD4	4089	hgsc.bcm.edu	37	18	48573543	48573543	+	Silent	SNP	T	T	C			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr18:48573543T>C	ENST00000342988.3	+	2	665	c.127T>C	c.(127-129)Ttg>Ctg	p.L43L	SMAD4_ENST00000398417.2_Silent_p.L43L|SMAD4_ENST00000588745.1_Silent_p.L43L|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000452201.2_Silent_p.L43L	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	43	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(5)|p.E41fs*8(1)|p.A36_K45delAKRAIESLVK(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		AATTGAAAGTTTGGTAAAGAA	0.368																																																	43	Whole gene deletion(36)|Unknown(5)|Complex - frameshift(1)|Deletion - In frame(1)	pancreas(26)|large_intestine(4)|stomach(3)|breast(3)|lung(2)|oesophagus(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|NS(1)	18											126.0	125.0	126.0					18																	48573543		2203	4300	6503	46827541	SO:0001819	synonymous_variant	4089			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.127T>C	18.37:g.48573543T>C			46827541	A8K405	Silent	SNP	ENST00000342988.3	37	CCDS11950.1																																																																																				0.368	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359	
ALPK2	115701	hgsc.bcm.edu	37	18	56202992	56202992	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr18:56202992T>C	ENST00000361673.3	-	5	4640	c.4427A>G	c.(4426-4428)aAg>aGg	p.K1476R	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1476			K -> T (in a melanoma metastatic sample; somatic mutation). {ECO:0000269|PubMed:17344846}.			nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.K837T(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AGCCTCCTGCTTCATACTGCC	0.493																																																	1	Substitution - Missense(1)	ovary(1)	18											57.0	59.0	58.0					18																	56202992		2203	4300	6503	54353972	SO:0001583	missense	115701			AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.4427A>G	18.37:g.56202992T>C	ENSP00000354991:p.Lys1476Arg		54353972	Q6ZUX0|Q8NAT5|Q96L95	Missense_Mutation	SNP	ENST00000361673.3	37	CCDS11966.2	.	.	.	.	.	.	.	.	.	.	T	0.019	-1.456971	0.01071	.	.	ENSG00000198796	ENST00000361673	T	0.37411	1.2	3.9	2.0	0.26442	.	156.464000	0.00166	N	0.000000	T	0.19685	0.0473	N	0.13098	0.295	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24225	-1.0166	10	0.02654	T	1	-0.5955	4.7766	0.13182	0.0:0.6527:0.222:0.1254	.	1471;1476	Q86TB3-2;Q86TB3	.;ALPK2_HUMAN	R	1476	ENSP00000354991:K1476R	ENSP00000354991:K1476R	K	-	2	0	ALPK2	54353972	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.134000	0.10436	0.534000	0.28695	-0.456000	0.05471	AAG		0.493	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947	
HHATL	57467	hgsc.bcm.edu	37	3	42739770	42739770	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr3:42739770C>T	ENST00000441594.1	-	6	818	c.557G>A	c.(556-558)cGt>cAt	p.R186H	HHATL_ENST00000310417.5_Missense_Mutation_p.R186H	NM_020707.3	NP_065758.3	Q9HCP6	HHATL_HUMAN	hedgehog acyltransferase-like	186					negative regulation of N-terminal protein palmitoylation (GO:0060262)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(3)	19				KIRC - Kidney renal clear cell carcinoma(284;0.215)		GCTGGTGCAACGCAGCACTGT	0.547																																																	0			3											144.0	130.0	135.0					3																	42739770		2203	4300	6503	42714774	SO:0001583	missense	57467			AB042554	CCDS2704.1	3p22	2009-10-06	2007-02-06	2007-02-06	ENSG00000010282	ENSG00000010282			13242	protein-coding gene	gene with protein product	"""membrane bound O-acyltransferase domain containing 3"""	608116	"""chromosome 3 open reading frame 3"", ""GUP1, glycerol uptake/transporter homolog (yeast)"""	C3orf3, GUP1		11374908	Standard	NM_020707		Approved	KIAA1173, OACT3, MSTP002, MBOAT3	uc003clx.3	Q9HCP6	OTTHUMG00000133043	ENST00000441594.1:c.557G>A	3.37:g.42739770C>T	ENSP00000405423:p.Arg186His		42714774	Q8TBG3|Q9ULP7	Missense_Mutation	SNP	ENST00000441594.1	37	CCDS2704.1	.	.	.	.	.	.	.	.	.	.	c	34	5.372727	0.95923	.	.	ENSG00000010282	ENST00000310417;ENST00000441594;ENST00000341477;ENST00000457462;ENST00000416756;ENST00000455195	D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43	5.07	5.07	0.68467	.	0.047476	0.85682	D	0.000000	D	0.94013	0.8082	M	0.72576	2.205	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.94081	0.7344	10	0.59425	D	0.04	-16.0452	18.6476	0.91416	0.0:1.0:0.0:0.0	.	186	Q9HCP6	HHATL_HUMAN	H	186;186;95;121;186;186	ENSP00000310621:R186H;ENSP00000405423:R186H;ENSP00000403787:R121H;ENSP00000395779:R186H;ENSP00000415351:R186H	ENSP00000310621:R186H	R	-	2	0	HHATL	42714774	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	7.588000	0.82629	2.643000	0.89663	0.556000	0.70494	CGT		0.547	HHATL-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343627.1	NM_020707	
TLR9	54106	hgsc.bcm.edu	37	3	52255756	52255756	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr3:52255756C>T	ENST00000360658.2	-	2	3209	c.2576G>A	c.(2575-2577)cGg>cAg	p.R859Q	TLR9_ENST00000597542.1_Missense_Mutation_p.R883Q|TLR9_ENST00000494383.1_Silent_p.A1012A	NM_017442.3	NP_059138.1	Q9NR96	TLR9_HUMAN	toll-like receptor 9	859					defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|maintenance of gastrointestinal epithelium (GO:0030277)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of chemokine production (GO:0032722)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-18 production (GO:0032741)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of cytokine secretion (GO:0050707)|response to molecule of bacterial origin (GO:0002237)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	interleukin-1 receptor binding (GO:0005149)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)|Hydroxychloroquine(DB01611)	CCCACTTTGCCGCCCCCGCCA	0.637																																																	0			3											59.0	59.0	59.0					3																	52255756		2203	4300	6503	52230796	SO:0001583	missense	54106			AF259262	CCDS2848.1	3p21.3	2006-02-23			ENSG00000239732	ENSG00000239732		"""CD molecules"""	15633	protein-coding gene	gene with protein product		605474				11022119	Standard	NM_017442		Approved	CD289	uc003ddb.3	Q9NR96	OTTHUMG00000158106	ENST00000360658.2:c.2576G>A	3.37:g.52255756C>T	ENSP00000353874:p.Arg859Gln		52230796	B3Y661|D1CS56|Q6UVZ2|Q9HD68|Q9HD69|Q9HD70|Q9NYC2|Q9NYC3	Missense_Mutation	SNP	ENST00000360658.2	37	CCDS2848.1	.	.	.	.	.	.	.	.	.	.	C	2.043	-0.419589	0.04734	.	.	ENSG00000239732	ENST00000360658	T	0.28895	1.59	5.1	1.23	0.21249	.	1.100210	0.07297	U	0.873373	T	0.12305	0.0299	N	0.08118	0	0.09310	N	1	B;B	0.24768	0.037;0.111	B;B	0.12837	0.006;0.008	T	0.30208	-0.9986	10	0.13108	T	0.6	.	2.3301	0.04233	0.1399:0.5235:0.1366:0.2	.	956;859	B4E0A1;Q9NR96	.;TLR9_HUMAN	Q	859	ENSP00000353874:R859Q	ENSP00000353874:R859Q	R	-	2	0	TLR9	52230796	0.000000	0.05858	0.000000	0.03702	0.087000	0.18053	0.032000	0.13732	-0.058000	0.13177	0.655000	0.94253	CGG		0.637	TLR9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000350203.1		
PSMD6	9861	hgsc.bcm.edu	37	3	64008049	64008049	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr3:64008049T>C	ENST00000295901.4	-	2	436	c.296A>G	c.(295-297)gAa>gGa	p.E99G	PSMD6_ENST00000492933.1_Missense_Mutation_p.E152G|PSMD6_ENST00000394431.2_Missense_Mutation_p.E61G|PSMD6_ENST00000482510.1_Missense_Mutation_p.E60G|RP11-245J9.6_ENST00000605919.1_RNA	NM_014814.1	NP_055629.1	Q15008	PSMD6_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 6	99					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATPase activity (GO:0016887)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(1)	13		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000805)|Kidney(15;0.00188)|KIRC - Kidney renal clear cell carcinoma(15;0.00212)		ATCGCGAATTTCGCTCTCTCC	0.453																																																	0			3											177.0	169.0	172.0					3																	64008049		2203	4300	6503	63983089	SO:0001583	missense	9861			AF215935	CCDS2901.1, CCDS63677.1, CCDS63678.1, CCDS63679.1	3p14.1	2008-05-22			ENSG00000163636	ENSG00000163636		"""Proteasome (prosome, macropain) subunits"""	9564	protein-coding gene	gene with protein product						10723133	Standard	NM_001271779		Approved	S10, p44S10, KIAA0107, Rpn7	uc003dmb.2	Q15008	OTTHUMG00000158765	ENST00000295901.4:c.296A>G	3.37:g.64008049T>C	ENSP00000295901:p.Glu99Gly		63983089	A8K2E0|E9PHI9|Q6UV22	Missense_Mutation	SNP	ENST00000295901.4	37	CCDS2901.1	.	.	.	.	.	.	.	.	.	.	T	30	5.049784	0.93740	.	.	ENSG00000163636	ENST00000295901;ENST00000492933;ENST00000394431;ENST00000482510;ENST00000497323;ENST00000478185	T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03	5.19	5.19	0.71726	.	0.090629	0.85682	D	0.000000	D	0.91307	0.7259	H	0.95328	3.655	0.80722	D	1	D;D;D;D	0.71674	0.992;0.998;0.998;0.975	D;D;D;D	0.81914	0.938;0.981;0.995;0.936	D	0.93742	0.7051	10	0.72032	D	0.01	.	15.2232	0.73330	0.0:0.0:0.0:1.0	.	61;60;152;99	Q6UV22;E9PHI9;C9IZE4;Q15008	.;.;.;PSMD6_HUMAN	G	99;152;61;60;113;120	ENSP00000295901:E99G;ENSP00000418695:E152G;ENSP00000377952:E61G;ENSP00000419227:E60G;ENSP00000418887:E113G	ENSP00000295901:E99G	E	-	2	0	PSMD6	63983089	1.000000	0.71417	0.980000	0.43619	0.970000	0.65996	7.786000	0.85741	2.184000	0.69523	0.533000	0.62120	GAA		0.453	PSMD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352082.1	NM_014814	
ROBO2	6092	hgsc.bcm.edu	37	3	77147227	77147227	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr3:77147227G>A	ENST00000461745.1	+	2	1024	c.124G>A	c.(124-126)Gtc>Atc	p.V42I	ROBO2_ENST00000332191.8_Missense_Mutation_p.V42I|ROBO2_ENST00000487694.3_Missense_Mutation_p.V58I	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	42	Ig-like C2-type 1.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.V42I(1)|p.V58I(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CGATGTCATCGTCTCTAAGGG	0.547																																																	2	Substitution - Missense(2)	prostate(2)	3											46.0	50.0	49.0					3																	77147227		1960	4140	6100	77229917	SO:0001583	missense	6092			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.124G>A	3.37:g.77147227G>A	ENSP00000417164:p.Val42Ile		77229917	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962860	0.74016	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191	T;T;T	0.70282	-0.47;-0.47;-0.47	4.96	4.96	0.65561	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.34879	U	0.003604	T	0.79064	0.4383	L	0.38953	1.18	0.43107	D	0.994806	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.995;0.998	T	0.81611	-0.0854	9	0.72032	D	0.01	.	18.2024	0.89843	0.0:0.0:1.0:0.0	.	58;42;42	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	I	58;58;58;42;42	ENSP00000417335:V58I;ENSP00000417164:V42I;ENSP00000327536:V42I	ENSP00000327536:V42I	V	+	1	0	ROBO2	77229917	1.000000	0.71417	0.983000	0.44433	0.027000	0.11550	9.864000	0.99589	2.283000	0.76528	0.655000	0.94253	GTC		0.547	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246	
EPHA3	2042	hgsc.bcm.edu	37	3	89445025	89445025	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr3:89445025T>C	ENST00000336596.2	+	6	1570	c.1345T>C	c.(1345-1347)Tcc>Ccc	p.S449P	EPHA3_ENST00000494014.1_Missense_Mutation_p.S449P|EPHA3_ENST00000452448.2_Missense_Mutation_p.S449P	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	449	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.		S -> F (in a lung neuroendocrine carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|ephrin receptor signaling pathway (GO:0048013)|fasciculation of motor neuron axon (GO:0097156)|fasciculation of sensory neuron axon (GO:0097155)|positive regulation of neuron projection development (GO:0010976)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of Rho GTPase activity (GO:0032319)	early endosome (GO:0005769)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|GPI-linked ephrin receptor activity (GO:0005004)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		AGATCGGACCTCCAGAAATAG	0.453										TSP Lung(6;0.00050)																																							0			3											172.0	163.0	166.0					3																	89445025		2203	4300	6503	89527715	SO:0001583	missense	2042			M83941	CCDS2922.1, CCDS46875.1	3p11.2	2013-02-11	2004-10-28		ENSG00000044524	ENSG00000044524	2.7.10.1	"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3387	protein-coding gene	gene with protein product		179611	"""EphA3"""	ETK, ETK1, TYRO4		1737782, 1311845	Standard	NM_005233		Approved	HEK, HEK4	uc003dqy.3	P29320	OTTHUMG00000159040	ENST00000336596.2:c.1345T>C	3.37:g.89445025T>C	ENSP00000337451:p.Ser449Pro		89527715	Q9H2V3|Q9H2V4	Missense_Mutation	SNP	ENST00000336596.2	37	CCDS2922.1	.	.	.	.	.	.	.	.	.	.	T	24.0	4.481398	0.84747	.	.	ENSG00000044524	ENST00000336596;ENST00000452448;ENST00000494014	T;T;T	0.59772	0.24;0.24;0.24	5.96	5.96	0.96718	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.052601	0.85682	D	0.000000	T	0.74527	0.3728	M	0.79805	2.47	0.80722	D	1	D;D	0.55800	0.97;0.973	P;P	0.58928	0.8;0.848	T	0.76421	-0.2965	9	.	.	.	.	16.4277	0.83824	0.0:0.0:0.0:1.0	.	449;449	P29320;P29320-2	EPHA3_HUMAN;.	P	449	ENSP00000337451:S449P;ENSP00000399926:S449P;ENSP00000419190:S449P	.	S	+	1	0	EPHA3	89527715	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	5.057000	0.64294	2.279000	0.76181	0.533000	0.62120	TCC		0.453	EPHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352995.1	NM_005233	
PLA1A	51365	hgsc.bcm.edu	37	3	119334871	119334871	+	Missense_Mutation	SNP	G	G	A	rs200921577		TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr3:119334871G>A	ENST00000273371.4	+	6	749	c.677G>A	c.(676-678)cGg>cAg	p.R226Q	PLA1A_ENST00000495992.1_Missense_Mutation_p.R210Q|PLA1A_ENST00000488919.1_Missense_Mutation_p.R53Q|PLA1A_ENST00000494440.1_Missense_Mutation_p.R210Q	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	226					lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)|phosphatidylserine metabolic process (GO:0006658)	extracellular vesicular exosome (GO:0070062)	phosphatidylcholine 1-acylhydrolase activity (GO:0008970)			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTGGGTATTCGGATTCCCGTT	0.537													G|||	1	0.000199681	0.0	0.0014	5008	,	,		17662	0.0		0.0	False		,,,				2504	0.0																0			3											142.0	110.0	121.0					3																	119334871		2203	4300	6503	120817561	SO:0001583	missense	51365			AF035268	CCDS2991.1, CCDS56268.1, CCDS56269.1	3q13.13-q13.2	2002-11-28			ENSG00000144837	ENSG00000144837			17661	protein-coding gene	gene with protein product		607460				10196188	Standard	NM_015900		Approved	ps-PLA1	uc003ecu.3	Q53H76	OTTHUMG00000159425	ENST00000273371.4:c.677G>A	3.37:g.119334871G>A	ENSP00000273371:p.Arg226Gln		120817561	B2R8V2|B4DXA2|O95991|Q86WX6|Q9UPD2	Missense_Mutation	SNP	ENST00000273371.4	37	CCDS2991.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	13.81	2.347005	0.41599	.	.	ENSG00000144837	ENST00000273371;ENST00000488919;ENST00000495992;ENST00000494440;ENST00000475963	D;D;D;D;D	0.90324	-2.65;-2.65;-2.65;-2.65;-2.65	4.95	4.08	0.47627	Lipase, N-terminal (1);	0.431727	0.27447	N	0.019327	D	0.83468	0.5261	L	0.38692	1.165	0.35892	D	0.82971	B;B	0.20988	0.032;0.05	B;B	0.24974	0.024;0.057	T	0.76950	-0.2769	10	0.07482	T	0.82	-20.4672	10.6981	0.45911	0.0889:0.0:0.9111:0.0	.	210;226	Q53H76-3;Q53H76	.;PLA1A_HUMAN	Q	226;53;210;210;92	ENSP00000273371:R226Q;ENSP00000420625:R53Q;ENSP00000417326:R210Q;ENSP00000418793:R210Q;ENSP00000417295:R92Q	ENSP00000273371:R226Q	R	+	2	0	PLA1A	120817561	1.000000	0.71417	1.000000	0.80357	0.498000	0.33706	4.859000	0.62954	1.336000	0.45506	-0.263000	0.10527	CGG		0.537	PLA1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355252.2		
SLC15A2	6565	hgsc.bcm.edu	37	3	121630513	121630513	+	Splice_Site	SNP	C	C	T	rs371513641		TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr3:121630513C>T	ENST00000489711.1	+	4	816	c.428C>T	c.(427-429)aCa>aTa	p.T143I	SLC15A2_ENST00000295605.2_Intron	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	143					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	GTGGTACACACGTGAGTAAAA	0.383																																																	0			3						C	,ILE/THR	0,4406		0,0,2203	169.0	136.0	147.0		,428	4.4	1.0	3		147	1,8599	1.2+/-3.3	0,1,4299	no	intron,missense-near-splice	SLC15A2	NM_001145998.1,NM_021082.3	,89	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,benign	,143/730	121630513	1,13005	2203	4300	6503	123113203	SO:0001630	splice_region_variant	6565			BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.428+1C>T	3.37:g.121630513C>T			123113203	A8K1A5|B4E2A7	Missense_Mutation	SNP	ENST00000489711.1	37	CCDS3007.1	.	.	.	.	.	.	.	.	.	.	C	9.732	1.162446	0.21538	0.0	1.16E-4	ENSG00000163406	ENST00000489711;ENST00000469013	T;T	0.56776	0.44;0.44	5.31	4.43	0.53597	Major facilitator superfamily domain, general substrate transporter (1);	0.300767	0.37809	N	0.001924	T	0.25754	0.0627	N	0.04686	-0.185	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.08207	-1.0733	10	0.12430	T	0.62	-3.2419	7.1616	0.25667	0.0:0.7219:0.1882:0.0899	.	143	Q16348	S15A2_HUMAN	I	143;81	ENSP00000417085:T143I;ENSP00000418704:T81I	ENSP00000418704:T81I	T	+	2	0	SLC15A2	123113203	1.000000	0.71417	1.000000	0.80357	0.829000	0.46940	1.850000	0.39328	1.463000	0.47967	0.655000	0.94253	ACA		0.383	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355239.1	NM_021082	Missense_Mutation
PDIA5	10954	hgsc.bcm.edu	37	3	122869111	122869111	+	Silent	SNP	G	G	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr3:122869111G>A	ENST00000316218.7	+	14	1268	c.1173G>A	c.(1171-1173)acG>acA	p.T391T	PDIA5_ENST00000467157.1_3'UTR	NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	391	Thioredoxin 3. {ECO:0000255|PROSITE- ProRule:PRU00691}.		T -> M (in dbSNP:rs2292661).		activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	oxidoreductase activity (GO:0016491)|protein disulfide isomerase activity (GO:0003756)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		CAGAGCCCACGTGGGAAGAGC	0.592																																																	0			3											62.0	65.0	64.0					3																	122869111		2203	4300	6503	124351801	SO:0001819	synonymous_variant	10954			AK054963	CCDS3020.1	3q21.1	2009-11-20	2005-06-29		ENSG00000065485	ENSG00000065485	5.3.4.1	"""Protein disulfide isomerases"""	24811	protein-coding gene	gene with protein product			"""protein disulfide isomerase-associated 5"""			7556671	Standard	NM_006810		Approved	PDIR, FLJ30401	uc003egc.2	Q14554	OTTHUMG00000159558	ENST00000316218.7:c.1173G>A	3.37:g.122869111G>A			124351801	D3DN95|Q9BV43	Silent	SNP	ENST00000316218.7	37	CCDS3020.1																																																																																				0.592	PDIA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356192.1	NM_006810	
HLTF	6596	hgsc.bcm.edu	37	3	148792068	148792068	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr3:148792068C>A	ENST00000310053.5	-	4	656	c.463G>T	c.(463-465)Gaa>Taa	p.E155*	HLTF_ENST00000465259.1_Nonsense_Mutation_p.E155*|HLTF_ENST00000392912.2_Nonsense_Mutation_p.E155*|HLTF_ENST00000494055.1_Nonsense_Mutation_p.E155*	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	155					chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTTCTATTTTCTTCTTTTCCC	0.348																																																	0			3											99.0	96.0	97.0					3																	148792068		2203	4299	6502	150274758	SO:0001587	stop_gained	6596			L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.463G>T	3.37:g.148792068C>A	ENSP00000308944:p.Glu155*		150274758	D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Nonsense_Mutation	SNP	ENST00000310053.5	37	CCDS33875.1	.	.	.	.	.	.	.	.	.	.	C	38	6.937812	0.97948	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000416117;ENST00000392913	.	.	.	5.41	5.41	0.78517	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	1.7746	14.3204	0.66482	0.0:0.8505:0.1495:0.0	.	.	.	.	X	155;155;155;155;152;152	.	ENSP00000308944:E155X	E	-	1	0	HLTF	150274758	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.212000	0.65225	2.550000	0.86006	0.555000	0.69702	GAA		0.348	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356064.1		
DHX36	170506	hgsc.bcm.edu	37	3	154011585	154011585	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr3:154011585G>A	ENST00000496811.1	-	14	1702	c.1622C>T	c.(1621-1623)cCt>cTt	p.P541L	DHX36_ENST00000329463.5_Missense_Mutation_p.P527L|DHX36_ENST00000544526.1_Missense_Mutation_p.P527L|DHX36_ENST00000308361.6_Missense_Mutation_p.P541L	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	541	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|innate immune response (GO:0045087)|ossification (GO:0001503)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|RNA secondary structure unwinding (GO:0010501)|transcription, DNA-templated (GO:0006351)	chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|core promoter binding (GO:0001047)|DNA-dependent ATPase activity (GO:0008094)|double-stranded RNA binding (GO:0003725)|G-quadruplex DNA binding (GO:0051880)|G-quadruplex RNA binding (GO:0002151)|histone deacetylase binding (GO:0042826)|poly(A) RNA binding (GO:0044822)|transcription regulatory region DNA binding (GO:0044212)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			AACACCAGGAGGGGTTCTTTT	0.294																																																	0			3											71.0	75.0	74.0					3																	154011585		2203	4294	6497	155494279	SO:0001583	missense	170506			AF217190	CCDS3171.1, CCDS54657.1	3q25.2	2012-09-20	2003-06-13	2003-06-20	ENSG00000174953	ENSG00000174953		"""DEAH-boxes"""	14410	protein-coding gene	gene with protein product		612767	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 36"""	DDX36			Standard	NM_020865		Approved	MLEL1, KIAA1488	uc003ezy.4	Q9H2U1	OTTHUMG00000159109	ENST00000496811.1:c.1622C>T	3.37:g.154011585G>A	ENSP00000417078:p.Pro541Leu		155494279	B2RB00|Q70JU3|Q8IYE5|Q9P240	Missense_Mutation	SNP	ENST00000496811.1	37	CCDS3171.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.2|27.2	4.811986|4.811986	0.90707|0.90707	.|.	.|.	ENSG00000174953|ENSG00000174953	ENST00000469977|ENST00000496811;ENST00000308361;ENST00000544526;ENST00000329463;ENST00000481941	.|T;T;T;T;T	.|0.03272	.|3.99;3.99;3.99;3.99;3.99	5.92|5.92	5.92|5.92	0.95590|0.95590	.|Helicase, C-terminal (3);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.21631|0.21631	0.0521|0.0521	M|M	0.82823|0.82823	2.61|2.61	0.80722|0.80722	D|D	1|1	.|P;P;P	.|0.50617	.|0.922;0.922;0.937	.|P;P;D	.|0.63877	.|0.868;0.868;0.919	T|T	0.00023|0.00023	-1.2330|-1.2330	5|10	.|0.59425	.|D	.|0.04	.|.	20.3138|20.3138	0.98647|0.98647	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|527;541;541	.|Q9H2U1-2;Q9H2U1-3;Q9H2U1	.|.;.;DHX36_HUMAN	F|L	21|541;541;527;527;455	.|ENSP00000417078:P541L;ENSP00000309296:P541L;ENSP00000444247:P527L;ENSP00000330113:P527L;ENSP00000419862:P455L	.|ENSP00000309296:P541L	L|P	-|-	1|2	0|0	DHX36|DHX36	155494279|155494279	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	7.158000|7.158000	0.77470|0.77470	2.814000|2.814000	0.96858|0.96858	0.585000|0.585000	0.79938|0.79938	CTC|CCT		0.294	DHX36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353349.1	NM_020865	
CPN2	1370	hgsc.bcm.edu	37	3	194062471	194062471	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr3:194062471A>G	ENST00000323830.3	-	2	1050	c.961T>C	c.(961-963)Tca>Cca	p.S321P	CPN2_ENST00000429275.1_Missense_Mutation_p.S321P	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	321					protein stabilization (GO:0050821)|regulation of catalytic activity (GO:0050790)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	enzyme regulator activity (GO:0030234)			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GCATTGTATGAGAGCATGAGG	0.587																																																	0			3											50.0	46.0	47.0					3																	194062471		2203	4300	6503	195544166	SO:0001583	missense	221184			J05158	CCDS33920.1	3q29	2012-02-10	2007-02-23		ENSG00000178772	ENSG00000178772	3.4.17.3		2313	protein-coding gene	gene with protein product		603104	"""carboxypeptidase N, polypeptide 2, 83kD"""	ACBP		2378615, 9628828	Standard	XM_005269280		Approved		uc003fts.3	P22792	OTTHUMG00000156047	ENST00000323830.3:c.961T>C	3.37:g.194062471A>G	ENSP00000319464:p.Ser321Pro		195544166	B2RPE7|Q86SU4|Q8N5V4	Missense_Mutation	SNP	ENST00000323830.3	37	CCDS33920.1	.	.	.	.	.	.	.	.	.	.	A	15.13	2.741166	0.49151	.	.	ENSG00000178772	ENST00000323830;ENST00000429275	T;T	0.63744	-0.06;-0.06	5.29	5.29	0.74685	.	0.000000	0.32819	N	0.005615	T	0.79058	0.4382	M	0.82517	2.595	0.42364	D	0.992426	D	0.89917	1.0	D	0.79784	0.993	T	0.80797	-0.1222	10	0.45353	T	0.12	.	12.6808	0.56920	0.8628:0.1371:0.0:0.0	.	321	P22792	CPN2_HUMAN	P	321	ENSP00000319464:S321P;ENSP00000402232:S321P	ENSP00000319464:S321P	S	-	1	0	CPN2	195544166	0.109000	0.22037	0.772000	0.31596	0.491000	0.33493	1.532000	0.36029	2.129000	0.65627	0.533000	0.62120	TCA		0.587	CPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342856.2	NM_001080513	
MUC4	4585	hgsc.bcm.edu	37	3	195508416	195508416	+	Silent	SNP	C	C	A	rs529417345	byFrequency	TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr3:195508416C>A	ENST00000463781.3	-	2	10494	c.10035G>T	c.(10033-10035)gtG>gtT	p.V3345V	MUC4_ENST00000475231.1_Silent_p.V3345V|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CGGTGACAGGCACAGGGGTGG	0.597													.|||	1317	0.262979	0.3646	0.2075	5008	,	,		12719	0.2976		0.2336	False		,,,				2504	0.1595																0			3											31.0	24.0	26.0					3																	195508416		663	1575	2238	196993195	SO:0001819	synonymous_variant	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.10035G>T	3.37:g.195508416C>A			196993195	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	ENST00000463781.3	37	CCDS54700.1																																																																																				0.597	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
C2CD5	9847	hgsc.bcm.edu	37	12	22622720	22622720	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr12:22622720T>C	ENST00000333957.4	-	22	2711	c.2456A>G	c.(2455-2457)gAt>gGt	p.D819G	C2CD5_ENST00000545552.1_Missense_Mutation_p.D832G|C2CD5_ENST00000536386.1_Missense_Mutation_p.D821G|C2CD5_ENST00000542676.1_Missense_Mutation_p.D819G|C2CD5_ENST00000544930.1_Missense_Mutation_p.D634G|C2CD5_ENST00000396028.2_Missense_Mutation_p.D810G|C2CD5_ENST00000446597.1_Missense_Mutation_p.D819G	NM_014802.1	NP_055617.1	Q86YS7	C2CD5_HUMAN	C2 calcium-dependent domain containing 5	819					cellular response to insulin stimulus (GO:0032869)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|intracellular protein transmembrane transport (GO:0065002)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of vesicle fusion (GO:0031340)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)										TTCTTCATTATCTGTTGAGGC	0.313																																																	0			12											86.0	88.0	87.0					12																	22622720		2203	4300	6503	22513987	SO:0001583	missense	9847			AB011100	CCDS31758.1, CCDS66337.1, CCDS66338.1, CCDS66339.1, CCDS66340.1	12p12.1	2012-12-13	2012-12-13	2012-12-13	ENSG00000111731	ENSG00000111731			29062	protein-coding gene	gene with protein product	"""138 kDa C2 domain-containing phosphoprotein"""		"""KIAA0528"""	KIAA0528		21907143	Standard	XM_005253538		Approved	CDP138	uc001rfq.3	Q86YS7	OTTHUMG00000169100	ENST00000333957.4:c.2456A>G	12.37:g.22622720T>C	ENSP00000334229:p.Asp819Gly		22513987	B4DJ03|B4DRN7|B7ZLL0|F5H2A1|F5H5R1|O60280|Q17RY7|Q7Z619|Q86SU3	Missense_Mutation	SNP	ENST00000333957.4	37	CCDS31758.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	14.20|14.20	2.464272|2.464272	0.43736|0.43736	.|.	.|.	ENSG00000111731|ENSG00000111731	ENST00000333957;ENST00000446597;ENST00000536386;ENST00000396028;ENST00000542676;ENST00000545552;ENST00000544930|ENST00000539615	T;T;T;T;T;T|.	0.65916|.	-0.13;-0.17;-0.18;-0.17;-0.17;-0.12|.	5.11|5.11	5.11|5.11	0.69529|0.69529	.|.	0.060005|.	0.64402|.	D|.	0.000003|.	T|T	0.56877|0.56877	0.2015|0.2015	L|L	0.38175|0.38175	1.15|1.15	0.45087|0.45087	D|D	0.998101|0.998101	P;B;P;P;B|.	0.52842|.	0.835;0.19;0.956;0.95;0.156|.	P;B;P;P;B|.	0.50708|.	0.466;0.107;0.648;0.555;0.049|.	T|T	0.54043|0.54043	-0.8352|-0.8352	10|5	0.41790|.	T|.	0.15|.	-24.2712|-24.2712	13.8047|13.8047	0.63223|0.63223	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	821;819;634;810;819|.	F5H2A1;B4DRN7;F5H3N1;Q86YS7-2;Q86YS7|.	.;.;.;.;K0528_HUMAN|.	G|V	819;819;821;810;819;832;634|103	ENSP00000334229:D819G;ENSP00000388756:D819G;ENSP00000439392:D821G;ENSP00000379345:D810G;ENSP00000441951:D819G;ENSP00000443204:D832G|.	ENSP00000334229:D819G|.	D|I	-|-	2|1	0|0	KIAA0528|KIAA0528	22513987|22513987	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	5.449000|5.449000	0.66619|0.66619	2.054000|2.054000	0.61138|0.61138	0.528000|0.528000	0.53228|0.53228	GAT|ATA		0.313	C2CD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402257.1	NM_014802	
KRAS	3845	hgsc.bcm.edu	37	12	25398259	25398259	+	Silent	SNP	C	C	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr12:25398259C>A	ENST00000256078.4	-	2	123	c.60G>T	c.(58-60)acG>acT	p.T20T	KRAS_ENST00000556131.1_Silent_p.T20T|KRAS_ENST00000311936.3_Silent_p.T20T|KRAS_ENST00000557334.1_Silent_p.T20T	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	20					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)		UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TTAGCTGTATCGTCAAGGCAC	0.363		119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	0			12											89.0	77.0	81.0					12																	25398259		2203	4300	6503	25289526	SO:0001819	synonymous_variant	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.60G>T	12.37:g.25398259C>A			25289526	A8K8Z5|B0LPF9|P01118|Q96D10	Silent	SNP	ENST00000256078.4	37	CCDS8703.1																																																																																				0.363	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
KRAS	3845	hgsc.bcm.edu	37	12	25398285	25398285	+	Missense_Mutation	SNP	C	C	A	rs121913530		TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr12:25398285C>A	ENST00000256078.4	-	2	97	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C	KRAS_ENST00000556131.1_Missense_Mutation_p.G12C|KRAS_ENST00000311936.3_Missense_Mutation_p.G12C|KRAS_ENST00000557334.1_Missense_Mutation_p.G12C	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.|G -> C (in lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:6320174}.|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929, ECO:0000269|PubMed:8439212}.|G -> R (in lung cancer and bladder cancer; somatic mutation). {ECO:0000269|PubMed:6695174}.|G -> S (in lung carcinoma and GASC; somatic mutation). {ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:7773929}.|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation, constitutively activated). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:8439212}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G12C(3001)|p.G12S(1288)|p.G12R(789)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12W(3)|p.A11_G12insGA(2)|p.G12Y(2)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CCTACGCCACCAGCTCCAACT	0.348	G12C(CALU1_LUNG)|G12C(HCC44_LUNG)|G12C(IALM_LUNG)|G12C(KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12C(KYSE410_OESOPHAGUS)|G12C(LU65_LUNG)|G12C(LU99_LUNG)|G12C(MIAPACA2_PANCREAS)|G12C(NCIH1373_LUNG)|G12C(NCIH1792_LUNG)|G12C(NCIH2030_LUNG)|G12C(NCIH2122_LUNG)|G12C(NCIH23_LUNG)|G12C(NCIH358_LUNG)|G12C(OV56_OVARY)|G12C(SW1463_LARGE_INTESTINE)|G12C(SW1573_LUNG)|G12C(SW837_LARGE_INTESTINE)|G12C(UMUC3_URINARY_TRACT)|G12R(CAL62_THYROID)|G12R(HS274T_BREAST)|G12R(HUPT3_PANCREAS)|G12R(KP2_PANCREAS)|G12R(PSN1_PANCREAS)|G12R(TCCPAN2_PANCREAS)|G12S(A549_LUNG)|G12S(KMS20_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12S(LS123_LARGE_INTESTINE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	5144	Substitution - Missense(5142)|Insertion - In frame(2)	large_intestine(2360)|lung(1649)|pancreas(656)|biliary_tract(125)|ovary(56)|endometrium(54)|haematopoietic_and_lymphoid_tissue(49)|thyroid(42)|stomach(21)|cervix(19)|upper_aerodigestive_tract(17)|urinary_tract(17)|soft_tissue(15)|small_intestine(13)|prostate(11)|breast(9)|skin(8)|testis(7)|liver(6)|oesophagus(3)|peritoneum(1)|autonomic_ganglia(1)|kidney(1)|central_nervous_system(1)|NS(1)|penis(1)|adrenal_gland(1)	12	GRCh37	CM076251	KRAS	M	rs121913530						93.0	83.0	86.0					12																	25398285		2203	4300	6503	25289552	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.34G>T	12.37:g.25398285C>A	ENSP00000256078:p.Gly12Cys		25289552	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.676185	0.88445	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90466	0.7014	M	0.90650	3.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.993	D	0.91833	0.5477	10	0.72032	D	0.01	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	12;12	P01116-2;P01116	.;RASK_HUMAN	C	12	ENSP00000308495:G12C;ENSP00000452512:G12C;ENSP00000256078:G12C;ENSP00000451856:G12C	ENSP00000256078:G12C	G	-	1	0	KRAS	25289552	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGT		0.348	KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
KLHL42	57542	hgsc.bcm.edu	37	12	27933702	27933702	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr12:27933702G>T	ENST00000381271.2	+	1	750	c.439G>T	c.(439-441)Gag>Tag	p.E147*	RP11-860B13.1_ENST00000545904.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	147					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											CGACCTGCAGGAGGCCTGCCT	0.652																																																	0			12											45.0	49.0	48.0					12																	27933702		2203	4300	6503	27824969	SO:0001587	stop_gained	57542			AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"""Kelch-like"""	29252	protein-coding gene	gene with protein product			"""kelch domain containing 5"""	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.439G>T	12.37:g.27933702G>T	ENSP00000370671:p.Glu147*		27824969	Q2VPK1|Q8N334	Nonsense_Mutation	SNP	ENST00000381271.2	37	CCDS31763.1	.	.	.	.	.	.	.	.	.	.	G	39	7.645244	0.98409	.	.	ENSG00000087448	ENST00000381271	.	.	.	4.57	4.57	0.56435	.	0.625996	0.17545	N	0.170378	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	12.0381	0.53438	0.0:0.0:0.8276:0.1724	.	.	.	.	X	147	.	ENSP00000370671:E147X	E	+	1	0	KLHDC5	27824969	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	3.735000	0.55044	2.515000	0.84797	0.591000	0.81541	GAG		0.652	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402904.1	NM_020782	
PFKM	5213	hgsc.bcm.edu	37	12	48535840	48535840	+	Silent	SNP	T	T	C			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr12:48535840T>C	ENST00000312352.7	+	17	1683	c.1644T>C	c.(1642-1644)acT>acC	p.T548T	PFKM_ENST00000395233.2_Silent_p.T517T|PFKM_ENST00000359794.5_Silent_p.T548T|PFKM_ENST00000340802.6_Silent_p.T619T|PFKM_ENST00000551804.1_Silent_p.T517T|PFKM_ENST00000547587.1_Silent_p.T548T	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	548	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CACTCAATACTATCTGCACAG	0.473																																																	0			12											176.0	149.0	158.0					12																	48535840		2203	4300	6503	46822107	SO:0001819	synonymous_variant	5213			M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.1644T>C	12.37:g.48535840T>C			46822107	J3KNX3|Q16814|Q16815|Q6ZTT1	Silent	SNP	ENST00000312352.7	37	CCDS8760.1	.	.	.	.	.	.	.	.	.	.	T	9.661	1.144248	0.21205	.	.	ENSG00000152556	ENST00000553055	.	.	.	4.83	-1.98	0.07480	.	.	.	.	.	T	0.38081	0.1027	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.28106	-1.0054	4	.	.	.	-21.0569	0.5333	0.00632	0.2493:0.3365:0.1229:0.2912	.	.	.	.	H	29	.	.	Y	+	1	0	PFKM	46822107	0.007000	0.16637	0.967000	0.41034	0.993000	0.82548	-1.053000	0.03500	-0.459000	0.07013	0.533000	0.62120	TAT		0.473	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406490.1	NM_000289	
PPFIA2	8499	hgsc.bcm.edu	37	12	81732978	81732978	+	Silent	SNP	T	T	C			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr12:81732978T>C	ENST00000549396.1	-	21	2689	c.2529A>G	c.(2527-2529)aaA>aaG	p.K843K	PPFIA2_ENST00000548586.1_Silent_p.K843K|PPFIA2_ENST00000550359.2_Silent_p.K690K|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541017.1_Silent_p.K60K|PPFIA2_ENST00000550584.2_Silent_p.K843K|PPFIA2_ENST00000549325.1_Silent_p.K825K|PPFIA2_ENST00000552948.1_Silent_p.K843K|PPFIA2_ENST00000333447.7_Silent_p.K825K|PPFIA2_ENST00000443686.3_Silent_p.K744K|PPFIA2_ENST00000541570.2_Silent_p.K410K|PPFIA2_ENST00000407050.4_Silent_p.K769K	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	843					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CAAGTCGAGCTTTTTCTTTTT	0.423																																																	0			12											201.0	197.0	198.0					12																	81732978		1855	4105	5960	80257109	SO:0001819	synonymous_variant	8499			AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2529A>G	12.37:g.81732978T>C			80257109	B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Silent	SNP	ENST00000549396.1	37	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	T	7.426	0.637774	0.14386	.	.	ENSG00000139220	ENST00000551147	.	.	.	5.64	0.609	0.17575	.	.	.	.	.	T	0.55784	0.1942	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48068	-0.9067	4	.	.	.	-30.2066	9.063	0.36447	0.0:0.6762:0.0:0.3238	.	.	.	.	G	6	.	.	S	-	1	0	PPFIA2	80257109	1.000000	0.71417	0.999000	0.59377	0.694000	0.40290	1.180000	0.32005	0.106000	0.17784	-0.441000	0.05720	AGC		0.423	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1		
PAH	5053	hgsc.bcm.edu	37	12	103232978	103232978	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr12:103232978C>A	ENST00000553106.1	-	13	1806	c.1334G>T	c.(1333-1335)tGc>tTc	p.C445F	PAH_ENST00000307000.2_Missense_Mutation_p.C440F	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	445					catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GAGGGCACTGCAAAGGATTCC	0.398																																																	0			12											85.0	84.0	85.0					12																	103232978		2203	4300	6503	101757108	SO:0001583	missense	5053			U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.1334G>T	12.37:g.103232978C>A	ENSP00000448059:p.Cys445Phe		101757108	Q16717|Q8TC14	Missense_Mutation	SNP	ENST00000553106.1	37	CCDS9092.1	.	.	.	.	.	.	.	.	.	.	C	12.78	2.041656	0.35989	.	.	ENSG00000171759	ENST00000553106;ENST00000307000	D;D	0.99511	-6.05;-6.05	5.31	4.42	0.53409	Aromatic amino acid hydroxylase, C-terminal (3);	0.043685	0.85682	D	0.000000	D	0.98333	0.9447	L	0.49350	1.555	0.80722	D	1	B	0.22541	0.071	B	0.29267	0.1	D	0.98221	1.0478	10	0.54805	T	0.06	-10.2823	13.165	0.59565	0.0:0.9209:0.0:0.0791	.	445	P00439	PH4H_HUMAN	F	445;440	ENSP00000448059:C445F;ENSP00000303500:C440F	ENSP00000303500:C440F	C	-	2	0	PAH	101757108	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	5.492000	0.66893	1.381000	0.46364	0.585000	0.79938	TGC		0.398	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1		
WSCD2	9671	hgsc.bcm.edu	37	12	108634180	108634180	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr12:108634180G>A	ENST00000332082.4	+	9	2022	c.1204G>A	c.(1204-1206)Gaa>Aaa	p.E402K	WSCD2_ENST00000549903.1_Missense_Mutation_p.E402K|WSCD2_ENST00000261400.3_Missense_Mutation_p.E402K|WSCD2_ENST00000547525.1_Missense_Mutation_p.E402K			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	402						integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CAAGACGCACGAAAGCGGCCA	0.612																																																	0			12											130.0	139.0	136.0					12																	108634180		2058	4203	6261	107158310	SO:0001583	missense	9671				CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.1204G>A	12.37:g.108634180G>A	ENSP00000331933:p.Glu402Lys		107158310	B2RN48|B4DES1|Q8IY35|Q9Y4B7	Missense_Mutation	SNP	ENST00000332082.4	37	CCDS41828.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.586001	0.86748	.	.	ENSG00000075035	ENST00000547525;ENST00000261400;ENST00000332082;ENST00000549903	T;T;T;T	0.33865	1.39;4.64;1.39;4.64	4.9	4.9	0.64082	.	0.118519	0.64402	D	0.000008	T	0.42944	0.1225	M	0.86178	2.8	0.80722	D	1	P;P	0.43352	0.804;0.571	B;B	0.34138	0.176;0.032	T	0.57751	-0.7757	10	0.54805	T	0.06	-32.8549	17.3052	0.87192	0.0:0.0:1.0:0.0	.	402;402	Q2TBF2-2;Q2TBF2	.;WSCD2_HUMAN	K	402	ENSP00000448047:E402K;ENSP00000261400:E402K;ENSP00000331933:E402K;ENSP00000447272:E402K	ENSP00000261400:E402K	E	+	1	0	WSCD2	107158310	1.000000	0.71417	0.999000	0.59377	0.989000	0.77384	9.097000	0.94193	2.551000	0.86045	0.644000	0.83932	GAA		0.612	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405554.1	NM_014653	
CMKLR1	1240	hgsc.bcm.edu	37	12	108686005	108686006	+	Missense_Mutation	DNP	GC	GC	CA			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G|C	G|C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr12:108686005_108686006GC>CA	ENST00000312143.7	-	3	1097_1098	c.734_735GC>TG	c.(733-735)tGC>tTG	p.C245L	CMKLR1_ENST00000397688.2_Missense_Mutation_p.C243L|CMKLR1_ENST00000550402.1_Missense_Mutation_p.C245L|CMKLR1_ENST00000552995.1_Missense_Mutation_p.C243L|CMKLR1_ENST00000412676.1_Missense_Mutation_p.C245L	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	245					chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of macrophage chemotaxis (GO:0010759)|regulation of calcium-mediated signaling (GO:0050848)|skeletal system development (GO:0001501)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chemokine receptor activity (GO:0004950)|G-protein coupled receptor activity (GO:0004930)|receptor activity (GO:0004872)			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						GCTGCAGTTTGCACACGATGGT	0.554																																																	0			12																																								107210135|107210136	SO:0001583	missense	1240			U79526	CCDS41829.1, CCDS44965.1	12q23.3	2013-07-29			ENSG00000174600	ENSG00000174600		"""GPCR / Class A : Resolvin receptors"""	2121	protein-coding gene	gene with protein product	"""resolvin E1 receptor"", ""chemerin receptor"""	602351					Standard	NM_004072		Approved	RVER1	uc009zuw.3	Q99788	OTTHUMG00000169576	ENST00000312143.7:c.734_735delinsCA	12.37:g.108686005_108686006delinsCA	ENSP00000311733:p.Cys245Leu		107210135|107210136	A8K6Y5|O75748|Q3KP37|Q5U0H0|Q99789	Missense_Mutation	SNP	ENST00000312143.7	37	CCDS44965.1																																																																																				0.554	CMKLR1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404867.1		
PTPN11	5781	hgsc.bcm.edu	37	12	112926884	112926884	+	Missense_Mutation	SNP	T	T	C	rs121918458		TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr12:112926884T>C	ENST00000351677.2	+	13	1702	c.1504T>C	c.(1504-1506)Tca>Cca	p.S502P		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	506	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.		R -> L (in LEOPARD1). {ECO:0000269|PubMed:15121796}.|R -> W (in LEOPARD1; reduced phosphatase activity). {ECO:0000269|PubMed:15121796, ECO:0000269|PubMed:24891296}.		abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)	p.S502P(6)|p.S502A(1)|p.S502T(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GTCTCAGAGGTCAGGGATGGT	0.468			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																															Dom	yes		12	12q24.1	5781	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	L	8	Substitution - Missense(8)	haematopoietic_and_lymphoid_tissue(8)	12	GRCh37	CM022450|CM055504	PTPN11	M	rs121918458						179.0	167.0	171.0					12																	112926884		2203	4300	6503	111411267	SO:0001583	missense	5781	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.1504T>C	12.37:g.112926884T>C	ENSP00000340944:p.Ser502Pro		111411267	A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	T	32	5.127809	0.94473	.	.	ENSG00000179295	ENST00000351677	D	0.98978	-5.29	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	D	0.97892	0.9307	L	0.41573	1.285	0.80722	D	1	P	0.41214	0.742	P	0.46479	0.518	D	0.98427	1.0580	10	0.45353	T	0.12	.	15.2256	0.73348	0.0:0.0:0.0:1.0	.	502	Q06124-2	.	P	502	ENSP00000340944:S502P	ENSP00000340944:S502P	S	+	1	0	PTPN11	111411267	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.655000	0.83696	2.064000	0.61679	0.528000	0.53228	TCA		0.468	PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2		
SRRM4	84530	hgsc.bcm.edu	37	12	119419797	119419797	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr12:119419797C>T	ENST00000267260.4	+	1	498	c.110C>T	c.(109-111)aCg>aTg	p.T37M		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	37					cell differentiation (GO:0030154)|mRNA processing (GO:0006397)|nervous system development (GO:0007399)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|sensory perception of sound (GO:0007605)	nucleus (GO:0005634)	mRNA binding (GO:0003729)	p.T37M(2)|p.T134M(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						GCCAGTATCACGGCCCGCAAG	0.592																																																	3	Substitution - Missense(3)	endometrium(3)	12											17.0	21.0	20.0					12																	119419797		1951	4131	6082	117904180	SO:0001583	missense	0			AB058756	CCDS44994.1	12q24.23	2009-09-22	2009-09-21	2009-09-21	ENSG00000139767	ENSG00000139767			29389	protein-coding gene	gene with protein product	"""neural-specific SR-related protein of 100 kDa"""	613103	"""KIAA1853"""	KIAA1853		19737518	Standard	NM_194286		Approved	nSR100	uc001txa.2	A7MD48	OTTHUMG00000168928	ENST00000267260.4:c.110C>T	12.37:g.119419797C>T	ENSP00000267260:p.Thr37Met		117904180	A8K5P6|B2RZH7|Q7Z5F0|Q96JH4	Missense_Mutation	SNP	ENST00000267260.4	37	CCDS44994.1	.	.	.	.	.	.	.	.	.	.	C	19.02	3.746189	0.69418	.	.	ENSG00000139767	ENST00000267260	T	0.36520	1.25	4.61	4.61	0.57282	.	0.203120	0.39759	N	0.001280	T	0.51924	0.1703	L	0.38175	1.15	0.58432	D	0.999996	D	0.89917	1.0	D	0.91635	0.999	T	0.55939	-0.8061	10	0.87932	D	0	-10.4393	18.0011	0.89198	0.0:1.0:0.0:0.0	.	37	A7MD48	SRRM4_HUMAN	M	37	ENSP00000267260:T37M	ENSP00000267260:T37M	T	+	2	0	SRRM4	117904180	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.784000	0.75084	2.534000	0.85438	0.643000	0.83706	ACG		0.592	SRRM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401640.2	NM_194286	
GCN1L1	10985	hgsc.bcm.edu	37	12	120602182	120602182	+	Silent	SNP	G	G	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr12:120602182G>A	ENST00000300648.6	-	18	1818	c.1806C>T	c.(1804-1806)caC>caT	p.H602H		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	602					regulation of translation (GO:0006417)|translation (GO:0006412)	cytoplasm (GO:0005737)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCAAGAGTCCGTGCGCCAGCT	0.607																																																	0			12											89.0	94.0	92.0					12																	120602182		1966	4157	6123	119086565	SO:0001819	synonymous_variant	10985			U77700	CCDS41847.1	12q24.2	2008-07-03	2001-11-28						4199	protein-coding gene	gene with protein product		605614	"""GCN1 (general control of amino-acid synthesis 1, yeast)-like 1"""			9234705	Standard	NM_006836		Approved	KIAA0219, GCN1, GCN1L	uc001txo.3	Q92616	OTTHUMG00000169338	ENST00000300648.6:c.1806C>T	12.37:g.120602182G>A			119086565	A8KAY1|O95001|O95651|Q6P2S3|Q86X65|Q8N5I5|Q8WU80|Q99736|Q9UE60	Silent	SNP	ENST00000300648.6	37	CCDS41847.1																																																																																				0.607	GCN1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403592.1		
HNF1A	6927	hgsc.bcm.edu	37	12	121431483	121431483	+	Silent	SNP	A	A	G			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr12:121431483A>G	ENST00000257555.6	+	3	913	c.687A>G	c.(685-687)cgA>cgG	p.R229R	HNF1A_ENST00000543427.1_Silent_p.R112R|HNF1A_ENST00000400024.2_Silent_p.R229R|HNF1A_ENST00000402929.1_Silent_p.R229R|HNF1A_ENST00000541395.1_Silent_p.R229R|HNF1A_ENST00000544413.1_Silent_p.R229R|HNF1A_ENST00000538626.1_Intron			P20823	HNF1A_HUMAN	HNF1 homeobox A	229			R -> Q (in MODY3). {ECO:0000269|PubMed:9032114}.		glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGGAGGAGCGAGAGACGCTAG	0.602									Hepatic Adenoma, Familial Clustering of																																								0			12											93.0	90.0	91.0					12																	121431483		2203	4300	6503	119915866	SO:0001819	synonymous_variant	6927	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"""Homeoboxes / HNF class"""	11621	protein-coding gene	gene with protein product		142410	"""transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"""	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.687A>G	12.37:g.121431483A>G			119915866	A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Silent	SNP	ENST00000257555.6	37	CCDS9209.1																																																																																				0.602	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545	
B3GNT4	79369	hgsc.bcm.edu	37	12	122691535	122691535	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr12:122691535T>C	ENST00000324189.4	+	3	1093	c.737T>C	c.(736-738)gTc>gCc	p.V246A	B3GNT4_ENST00000546192.1_Missense_Mutation_p.V221A|B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000535274.1_Missense_Mutation_p.V221A	NM_030765.2	NP_110392.1	Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	246					carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		GTGGGAGATGTCATCCGCCAA	0.562																																																	0			12											79.0	68.0	72.0					12																	122691535		2203	4300	6503	121257488	SO:0001583	missense	79369			AB049586	CCDS9227.1	12q24	2013-02-19						"""Beta 3-glycosyltransferases"""	15683	protein-coding gene	gene with protein product		605864				11042166	Standard	NM_030765		Approved	B3GN-T4, beta3Gn-T4	uc001ubx.3	Q9C0J1		ENST00000324189.4:c.737T>C	12.37:g.122691535T>C	ENSP00000319636:p.Val246Ala		121257488	Q8N5W4|Q8N934|Q8ND21|Q8WWR5|Q8WY02|Q96QH5	Missense_Mutation	SNP	ENST00000324189.4	37	CCDS9227.1	.	.	.	.	.	.	.	.	.	.	T	19.08	3.758288	0.69763	.	.	ENSG00000176383	ENST00000324189;ENST00000546192;ENST00000535274	T;T;T	0.46063	0.88;0.88;0.88	5.5	5.5	0.81552	.	0.000000	0.50627	D	0.000111	T	0.48447	0.1500	M	0.77313	2.365	0.39255	D	0.9641	B	0.22211	0.066	B	0.24394	0.053	T	0.53450	-0.8437	10	0.66056	D	0.02	.	15.2784	0.73760	0.0:0.0:0.0:1.0	.	246	Q9C0J1	B3GN4_HUMAN	A	246;221;221	ENSP00000319636:V246A;ENSP00000438840:V221A;ENSP00000444534:V221A	ENSP00000319636:V246A	V	+	2	0	B3GNT4	121257488	0.995000	0.38212	0.990000	0.47175	0.949000	0.60115	3.345000	0.52182	2.091000	0.63221	0.533000	0.62120	GTC		0.562	B3GNT4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000401595.1	NM_030765	
EP400	57634	hgsc.bcm.edu	37	12	132445290	132445290	+	Silent	SNP	C	C	T	rs139666996		TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr12:132445290C>T	ENST00000333577.4	+	2	235	c.126C>T	c.(124-126)ttC>ttT	p.F42F	EP400_ENST00000332482.4_Silent_p.F42F|EP400_ENST00000389561.2_Silent_p.F42F|EP400_ENST00000330386.6_Silent_p.F42F|EP400_ENST00000389562.2_Silent_p.F42F			Q96L91	EP400_HUMAN	E1A binding protein p400	42					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.F42F(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		CAGCTCCCTTCGCTCCCTCAG	0.652																																																	1	Substitution - coding silent(1)	skin(1)	12											24.0	27.0	26.0					12																	132445290		2196	4273	6469	131011243	SO:0001819	synonymous_variant	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.126C>T	12.37:g.132445290C>T			131011243	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37																																																																																					0.652	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409	
AQR	9716	hgsc.bcm.edu	37	15	35166925	35166925	+	Silent	SNP	A	A	G			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr15:35166925A>G	ENST00000156471.5	-	29	3603	c.3378T>C	c.(3376-3378)gtT>gtC	p.V1126V		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1126					mRNA splicing, via spliceosome (GO:0000398)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TCGGAACTCCAACGCGAACAA	0.433																																																	0			15											134.0	125.0	128.0					15																	35166925		1906	4124	6030	32954217	SO:0001819	synonymous_variant	9716			AB011132	CCDS42013.1	15q13	2013-09-12	2013-09-12			ENSG00000021776			29513	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 164"""	610548	"""aquarius homolog (mouse)"""			9626505, 16949364	Standard	NM_014691		Approved	KIAA0560, fSAP164, IBP160	uc001ziv.3	O60306		ENST00000156471.5:c.3378T>C	15.37:g.35166925A>G			32954217	A0JP17|A5YKK3|Q2YDX9|Q6IRU8|Q6PIC8	Silent	SNP	ENST00000156471.5	37	CCDS42013.1																																																																																				0.433	AQR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417526.2	NM_014691	
TUBGCP4	27229	hgsc.bcm.edu	37	15	43689445	43689445	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr15:43689445A>G	ENST00000260383.7	+	12	1459	c.1205A>G	c.(1204-1206)aAg>aGg	p.K402R	TUBGCP4_ENST00000399460.3_Missense_Mutation_p.K266R|TUBGCP4_ENST00000564079.1_Missense_Mutation_p.K402R			Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	402					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)|protein complex assembly (GO:0006461)	centrosome (GO:0005813)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|spindle pole (GO:0000922)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		TCAGCACACAAGGTATTGCTA	0.493																																																	0			15											178.0	180.0	179.0					15																	43689445		2135	4245	6380	41476737	SO:0001583	missense	27229			AJ249677	CCDS42030.1, CCDS66745.1	15q15.3	2014-08-12			ENSG00000137822	ENSG00000137822			16691	protein-coding gene	gene with protein product		609610				10562286	Standard	NM_001286414		Approved	76P, FLJ14797	uc001zrn.3	Q9UGJ1	OTTHUMG00000176647	ENST00000260383.7:c.1205A>G	15.37:g.43689445A>G	ENSP00000260383:p.Lys402Arg		41476737	B3KNK6|Q969X3|Q9NVF0	Missense_Mutation	SNP	ENST00000260383.7	37		.	.	.	.	.	.	.	.	.	.	A	18.82	3.705428	0.68615	.	.	ENSG00000137822	ENST00000260383;ENST00000399460	T;T	0.07567	3.18;3.18	5.64	5.64	0.86602	.	0.041966	0.85682	D	0.000000	T	0.14787	0.0357	M	0.71871	2.18	0.46927	D	0.999259	B;B	0.27229	0.045;0.172	B;B	0.33521	0.12;0.165	T	0.03315	-1.1049	10	0.26408	T	0.33	-20.5908	15.3298	0.74200	1.0:0.0:0.0:0.0	.	402;402	Q9UGJ1;Q9UGJ1-2	GCP4_HUMAN;.	R	402;266	ENSP00000260383:K402R;ENSP00000382387:K266R	ENSP00000260383:K402R	K	+	2	0	TUBGCP4	41476737	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.285000	0.78660	2.272000	0.75746	0.460000	0.39030	AAG		0.493	TUBGCP4-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000432970.1	NM_014444	
SPG11	80208	hgsc.bcm.edu	37	15	44921511	44921511	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr15:44921511T>C	ENST00000261866.7	-	9	1827	c.1811A>G	c.(1810-1812)aAa>aGa	p.K604R	SPG11_ENST00000427534.2_Missense_Mutation_p.K604R|SPG11_ENST00000535302.2_Missense_Mutation_p.K604R|SPG11_ENST00000558319.1_Missense_Mutation_p.K604R|SPG11_ENST00000559193.1_Missense_Mutation_p.K604R	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	604					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TGAAAAGTGTTTGCTTTGGGG	0.368																																																	0			15											145.0	131.0	135.0					15																	44921511		2198	4298	6496	42708803	SO:0001583	missense	80208				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.1811A>G	15.37:g.44921511T>C	ENSP00000261866:p.Lys604Arg		42708803	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	ENST00000261866.7	37	CCDS10112.1	.	.	.	.	.	.	.	.	.	.	T	13.25	2.182532	0.38511	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.80123	-1.34;-1.08;-1.08	5.7	4.56	0.56223	.	0.127798	0.52532	D	0.000075	T	0.71013	0.3290	L	0.43152	1.355	0.44555	D	0.997511	B;B;B;B	0.27997	0.027;0.027;0.197;0.027	B;B;B;B	0.25140	0.019;0.019;0.058;0.018	T	0.66952	-0.5793	10	0.26408	T	0.33	.	10.2845	0.43558	0.0:0.0769:0.0:0.9231	.	604;604;604;604	C4B7M2;F5H3N6;B9EK60;Q96JI7	.;.;.;SPTCS_HUMAN	R	604	ENSP00000261866:K604R;ENSP00000445278:K604R;ENSP00000396110:K604R	ENSP00000261866:K604R	K	-	2	0	SPG11	42708803	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.613000	0.54152	2.178000	0.69098	0.533000	0.62120	AAA		0.368	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1		
MYEF2	50804	hgsc.bcm.edu	37	15	48458145	48458145	+	Silent	SNP	G	G	T			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr15:48458145G>T	ENST00000324324.7	-	5	789	c.510C>A	c.(508-510)ccC>ccA	p.P170P	MYEF2_ENST00000267836.6_Silent_p.P170P	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	170	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				myotube differentiation (GO:0014902)|neuron differentiation (GO:0030182)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TAATATTAAGGGGTCTTCCAC	0.274																																																	0			15											54.0	67.0	63.0					15																	48458145		2181	4241	6422	46245437	SO:0001819	synonymous_variant	50804			AB037762	CCDS32230.1, CCDS73722.1	15q15.1	2013-07-16				ENSG00000104177		"""RNA binding motif (RRM) containing"""	17940	protein-coding gene	gene with protein product						10718198, 2601707	Standard	XM_005254422		Approved	MEF-2, FLJ11213, KIAA1341, HsT18564	uc001zwi.4	Q9P2K5		ENST00000324324.7:c.510C>A	15.37:g.48458145G>T			46245437	A7MCZ9|C9J921|C9K0J4|Q6NUM5|Q7L388|Q7Z4B7|Q9H922|Q9NUQ1	Silent	SNP	ENST00000324324.7	37	CCDS32230.1																																																																																				0.274	MYEF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000416909.2	NM_016132	
MYO5C	55930	hgsc.bcm.edu	37	15	52517286	52517286	+	Silent	SNP	T	T	C			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr15:52517286T>C	ENST00000261839.7	-	27	3512	c.3351A>G	c.(3349-3351)gaA>gaG	p.E1117E		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1117						extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E1117D(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TTCTTACATCTTCAATGTCAT	0.318																																																	1	Substitution - Missense(1)	ovary(1)	15											139.0	122.0	127.0					15																	52517286		1849	4094	5943	50304578	SO:0001819	synonymous_variant	55930			AF272390	CCDS42036.1	15q21	2011-09-27				ENSG00000128833		"""Myosins / Myosin superfamily : Class V"""	7604	protein-coding gene	gene with protein product	"""myosin 5C"""	610022				11870218	Standard	NM_018728		Approved	MGC74969	uc010bff.3	Q9NQX4		ENST00000261839.7:c.3351A>G	15.37:g.52517286T>C			50304578	Q6P1W8	Silent	SNP	ENST00000261839.7	37	CCDS42036.1																																																																																				0.318	MYO5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419562.1	NM_018728	
CHRNA5	1138	hgsc.bcm.edu	37	15	78880659	78880659	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr15:78880659T>C	ENST00000299565.5	+	4	507	c.307T>C	c.(307-309)Tgg>Cgg	p.W103R	CHRNA5_ENST00000559554.1_Missense_Mutation_p.W103R|RP11-650L12.2_ENST00000567141.1_RNA	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	103					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15					Galantamine(DB00674)|Nicotine(DB00184)	TTTAAAGGAATGGATAGATGT	0.333																																																	0			15											83.0	85.0	84.0					15																	78880659		2196	4293	6489	76667714	SO:0001583	missense	1138				CCDS10304.1	15q24	2012-02-11	2012-02-07		ENSG00000169684	ENSG00000169684		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1959	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 5 (neuronal)"""	118505	"""cholinergic receptor, nicotinic, alpha polypeptide 5"""			2004777	Standard	NM_000745		Approved		uc002bdy.3	P30532	OTTHUMG00000143858	ENST00000299565.5:c.307T>C	15.37:g.78880659T>C	ENSP00000299565:p.Trp103Arg		76667714	Q15824|Q99554	Missense_Mutation	SNP	ENST00000299565.5	37	CCDS10304.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.264798	0.80358	.	.	ENSG00000169684	ENST00000299565;ENST00000394802	D	0.98684	-5.07	5.08	5.08	0.68730	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.99585	0.9850	H	0.99609	4.655	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97415	1.0005	10	0.72032	D	0.01	.	15.2098	0.73214	0.0:0.0:0.0:1.0	.	103	P30532	ACHA5_HUMAN	R	103;54	ENSP00000299565:W103R	ENSP00000299565:W103R	W	+	1	0	CHRNA5	76667714	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.977000	0.88081	2.041000	0.60428	0.454000	0.30748	TGG		0.333	CHRNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290106.1		
TICRR	90381	hgsc.bcm.edu	37	15	90168898	90168898	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr15:90168898G>A	ENST00000268138.7	+	20	5462	c.5357G>A	c.(5356-5358)gGa>gAa	p.G1786E	TICRR_ENST00000560985.1_Missense_Mutation_p.G1785E|KIF7_ENST00000558928.1_Intron			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1786					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GCTGACCGTGGAGCCAAAAGG	0.532																																																	0			15											44.0	46.0	45.0					15																	90168898		2200	4299	6499	87969902	SO:0001583	missense	90381			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.5357G>A	15.37:g.90168898G>A	ENSP00000268138:p.Gly1786Glu		87969902	B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	G	0.534	-0.856391	0.02630	.	.	ENSG00000140534	ENST00000268138	T	0.06608	3.28	5.2	-5.01	0.02991	.	0.891295	0.10013	N	0.726934	T	0.03178	0.0093	N	0.14661	0.345	0.09310	N	1	B	0.15719	0.014	B	0.11329	0.006	T	0.48258	-0.9051	10	0.13853	T	0.58	1.7211	10.071	0.42332	0.5468:0.091:0.3622:0.0	.	1786	Q7Z2Z1	TICRR_HUMAN	E	1786	ENSP00000268138:G1786E	ENSP00000268138:G1786E	G	+	2	0	C15orf42	87969902	0.000000	0.05858	0.000000	0.03702	0.032000	0.12392	-0.505000	0.06367	-0.948000	0.03668	-0.136000	0.14681	GGA		0.532	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259	
KIF7	374654	hgsc.bcm.edu	37	15	90188650	90188650	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr15:90188650C>T	ENST00000394412.3	-	9	2031	c.1955G>A	c.(1954-1956)gGg>gAg	p.G652E		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	652	Sufficient for interaction with NPHP1.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TGGGCGTGCCCCCGCCCTCTG	0.637																																																	0			15											72.0	61.0	65.0					15																	90188650		2200	4299	6499	87989654	SO:0001583	missense	374654			AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.1955G>A	15.37:g.90188650C>T	ENSP00000377934:p.Gly652Glu		87989654	Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	ENST00000394412.3	37	CCDS32325.2	.	.	.	.	.	.	.	.	.	.	c	8.540	0.873020	0.17322	.	.	ENSG00000166813	ENST00000394412	T	0.69435	-0.4	4.38	-0.114	0.13564	.	0.654979	0.15689	N	0.249518	T	0.37919	0.1021	N	0.22421	0.69	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.21999	-1.0229	10	0.02654	T	1	.	1.7511	0.02972	0.1412:0.451:0.1392:0.2686	.	139;652	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	E	652	ENSP00000377934:G652E	ENSP00000377934:G652E	G	-	2	0	KIF7	87989654	0.000000	0.05858	0.002000	0.10522	0.065000	0.16274	0.092000	0.15066	0.081000	0.16988	0.454000	0.30748	GGG		0.637	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347782.1	NM_198525	
STS	412	hgsc.bcm.edu	37	X	7175602	7175602	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chrX:7175602G>A	ENST00000217961.4	+	4	590	c.370G>A	c.(370-372)Gat>Aat	p.D124N		NM_000351.4	NP_000342.2	P08842	STS_HUMAN	steroid sulfatase (microsomal), isozyme S	124					cellular protein metabolic process (GO:0044267)|epidermis development (GO:0008544)|female pregnancy (GO:0007565)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|steroid catabolic process (GO:0006706)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|steryl-sulfatase activity (GO:0004773)|sulfuric ester hydrolase activity (GO:0008484)	p.D124Y(1)|p.D124N(1)		NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Norelgestromin(DB06713)	GCTTCTGAAGGATCAAGGTTA	0.483									Ichthyosis																																								2	Substitution - Missense(2)	lung(1)|central_nervous_system(1)	X											117.0	100.0	106.0					X																	7175602		2203	4299	6502	7185602	SO:0001583	missense	412	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	M16505	CCDS14127.1	Xp22.32	2013-06-10	2007-07-19		ENSG00000101846	ENSG00000101846	3.1.6.2	"""Arylsulfatase family"""	11425	protein-coding gene	gene with protein product	"""arylsulfatase C"""	300747	"""steroid sulfatase (microsomal), arylsulfatase C, isozyme S"""	ARSC1			Standard	NM_000351		Approved	ARSC	uc004cry.4	P08842	OTTHUMG00000021102	ENST00000217961.4:c.370G>A	X.37:g.7175602G>A	ENSP00000217961:p.Asp124Asn		7185602	B2RA47	Missense_Mutation	SNP	ENST00000217961.4	37	CCDS14127.1	.	.	.	.	.	.	.	.	.	.	G	2.343	-0.350641	0.05173	.	.	ENSG00000101846	ENST00000217961	D	0.94138	-3.36	3.76	-1.62	0.08372	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	1.556550	0.03488	N	0.216128	D	0.86863	0.6035	L	0.28274	0.84	0.27858	N	0.940487	B	0.06786	0.001	B	0.09377	0.004	T	0.72537	-0.4263	10	0.25106	T	0.35	.	5.5406	0.17036	0.4475:0.1506:0.4019:0.0	.	124	P08842	STS_HUMAN	N	124	ENSP00000217961:D124N	ENSP00000217961:D124N	D	+	1	0	STS	7185602	0.058000	0.20735	0.089000	0.20774	0.122000	0.20287	-0.280000	0.08468	-0.897000	0.03910	-0.340000	0.08031	GAT		0.483	STS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055686.1	NM_000351	
RAI2	10742	hgsc.bcm.edu	37	X	17819079	17819079	+	Missense_Mutation	SNP	C	C	T	rs140631545		TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chrX:17819079C>T	ENST00000545871.1	-	3	1512	c.1052G>A	c.(1051-1053)cGg>cAg	p.R351Q	RAI2_ENST00000451717.1_Missense_Mutation_p.R351Q|RAI2_ENST00000415486.3_Missense_Mutation_p.R301Q|RAI2_ENST00000331511.1_Missense_Mutation_p.R351Q|RAI2_ENST00000360011.1_Missense_Mutation_p.R351Q	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	351					embryo development (GO:0009790)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					CTCGGATTTCCGGTGGGCTGC	0.552																																																	0			X							GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,3835		0,0,1632,571	62.0	60.0	60.0		902,1052,1052,1052	5.3	1.0	X	dbSNP_134	60	1,6727		0,1,2427,1872	no	missense,missense,missense,missense	RAI2	NM_001172732.1,NM_001172739.1,NM_001172743.1,NM_021785.4	43,43,43,43	0,1,4059,2443	TT,TC,CC,C		0.0149,0.0,0.0095	probably-damaging,probably-damaging,probably-damaging,probably-damaging	301/481,351/531,351/531,351/531	17819079	1,10562	2203	4300	6503	17729000	SO:0001583	missense	10742			Z93242	CCDS14183.1, CCDS55374.1	Xp22	2008-02-05			ENSG00000131831	ENSG00000131831			9835	protein-coding gene	gene with protein product		300217				10049581, 10394933	Standard	NR_033348		Approved		uc010nfa.3	Q9Y5P3	OTTHUMG00000021209	ENST00000545871.1:c.1052G>A	X.37:g.17819079C>T	ENSP00000444210:p.Arg351Gln		17729000	B1B1K2|B4DQM9|E7EMN4|Q8N6X7	Missense_Mutation	SNP	ENST00000545871.1	37	CCDS14183.1	.	.	.	.	.	.	.	.	.	.	c	18.38	3.611504	0.66558	0.0	1.49E-4	ENSG00000131831	ENST00000331511;ENST00000360011;ENST00000545871;ENST00000451717;ENST00000415486	T;T;T;T;T	0.38077	1.18;1.18;1.18;1.18;1.16	5.29	5.29	0.74685	.	0.074690	0.49305	D	0.000142	T	0.54532	0.1864	L	0.55481	1.735	0.37167	D	0.902861	D;D	0.89917	1.0;1.0	D;D	0.66847	0.947;0.947	T	0.62364	-0.6870	10	0.72032	D	0.01	-24.2176	15.8108	0.78561	0.0:1.0:0.0:0.0	.	301;351	E7EMN4;Q9Y5P3	.;RAI2_HUMAN	Q	351;351;351;351;301	ENSP00000333456:R351Q;ENSP00000353106:R351Q;ENSP00000444210:R351Q;ENSP00000401323:R351Q;ENSP00000392578:R301Q	ENSP00000333456:R351Q	R	-	2	0	RAI2	17729000	0.979000	0.34478	0.999000	0.59377	0.942000	0.58702	2.626000	0.46460	2.457000	0.83068	0.597000	0.82753	CGG		0.552	RAI2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055937.1	NM_021785	
PTCHD1	139411	hgsc.bcm.edu	37	X	23411777	23411777	+	Silent	SNP	G	G	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chrX:23411777G>A	ENST00000379361.4	+	3	3002	c.2142G>A	c.(2140-2142)tcG>tcA	p.S714S		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	714					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)	p.S609S(1)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TCTTCTTCTCGGCATTCCTGG	0.483																																																	1	Substitution - coding silent(1)	ovary(1)	X											114.0	102.0	106.0					X																	23411777		2203	4300	6503	23321698	SO:0001819	synonymous_variant	139411			AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.2142G>A	X.37:g.23411777G>A			23321698	B4DQH0|Q0IJ60|Q6P6B8	Silent	SNP	ENST00000379361.4	37	CCDS35215.2																																																																																				0.483	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056047.2	NM_173495	
MAGEB16	139604	hgsc.bcm.edu	37	X	35820649	35820649	+	Silent	SNP	T	T	C			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chrX:35820649T>C	ENST00000399989.1	+	2	615	c.336T>C	c.(334-336)gcT>gcC	p.A112A	MAGEB16_ENST00000399988.1_Silent_p.A112A|MAGEB16_ENST00000399987.1_Silent_p.A112A|MAGEB16_ENST00000399992.1_Silent_p.A144A|MAGEB16_ENST00000399985.1_Silent_p.A112A	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	112										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CCGCAGATGCTCTCGACCAGA	0.438																																																	0			X											56.0	52.0	54.0					X																	35820649		1959	4153	6112	35730570	SO:0001819	synonymous_variant	139604				CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"""melanoma antigen family B, 16 (pseudogene)"""			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.336T>C	X.37:g.35820649T>C			35730570	A8MU30	Silent	SNP	ENST00000399989.1	37	CCDS43927.1																																																																																				0.438	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1		
FAM47C	442444	hgsc.bcm.edu	37	X	37028324	37028324	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chrX:37028324G>A	ENST00000358047.3	+	1	1893	c.1841G>A	c.(1840-1842)cGc>cAc	p.R614H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	614										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCAGAGACTCGCGTATCTCAT	0.657																																																	0			X											26.0	30.0	28.0					X																	37028324		2197	4290	6487	36938245	SO:0001583	missense	442444			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.1841G>A	X.37:g.37028324G>A	ENSP00000367913:p.Arg614His		36938245	Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	-	4.944	0.175459	0.09391	.	.	ENSG00000198173	ENST00000358047	T	0.14022	2.54	1.64	-3.28	0.05033	.	.	.	.	.	T	0.22322	0.0538	M	0.62723	1.935	0.09310	N	1	D	0.76494	0.999	D	0.65323	0.934	T	0.41448	-0.9508	9	0.54805	T	0.06	.	0.3479	0.00344	0.3399:0.1405:0.2703:0.2493	.	614	Q5HY64	FA47C_HUMAN	H	614	ENSP00000367913:R614H	ENSP00000367913:R614H	R	+	2	0	FAM47C	36938245	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.473000	0.06615	-3.995000	0.00083	-4.223000	0.00009	CGC		0.657	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736	
KIF4A	24137	hgsc.bcm.edu	37	X	69510411	69510411	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chrX:69510411G>A	ENST00000374403.3	+	2	185	c.103G>A	c.(103-105)Gtg>Atg	p.V35M	PDZD11_ENST00000374454.1_5'Flank|KIF4A_ENST00000485406.1_3'UTR|PDZD11_ENST00000473667.1_5'Flank|KIF4A_ENST00000374388.3_Missense_Mutation_p.V35M|PDZD11_ENST00000239666.4_5'Flank	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	35	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						CCTTTCCTTCGTGCCCGGAGA	0.562																																																	0			X											67.0	52.0	57.0					X																	69510411		2203	4300	6503	69427136	SO:0001583	missense	24137			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.103G>A	X.37:g.69510411G>A	ENSP00000363524:p.Val35Met		69427136	B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	ENST00000374403.3	37	CCDS14401.1	.	.	.	.	.	.	.	.	.	.	g	19.87	3.908123	0.72868	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.75367	-0.93;-0.93	6.16	5.3	0.74995	Kinesin, motor domain (4);	0.110082	0.40302	N	0.001130	T	0.78489	0.4291	L	0.45228	1.405	0.58432	D	0.999995	P;D	0.53462	0.954;0.96	P;P	0.58210	0.835;0.795	T	0.79222	-0.1892	10	0.54805	T	0.06	.	13.3963	0.60856	0.0759:0.0:0.9241:0.0	.	35;35	O95239;O95239-2	KIF4A_HUMAN;.	M	35	ENSP00000363509:V35M;ENSP00000363524:V35M	ENSP00000363509:V35M	V	+	1	0	KIF4A	69427136	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.697000	0.54764	1.354000	0.45846	0.597000	0.82753	GTG		0.562	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057068.1	NM_012310	
OGT	8473	hgsc.bcm.edu	37	X	70757809	70757809	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chrX:70757809C>T	ENST00000373719.3	+	3	566	c.349C>T	c.(349-351)Cgt>Tgt	p.R117C	OGT_ENST00000373701.3_Missense_Mutation_p.R107C|OGT_ENST00000498566.1_3'UTR	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	117					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)	p.R107C(1)|p.R117C(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					ACATGCATTGCGTCTCAAACC	0.493																																																	2	Substitution - Missense(2)	ovary(2)	X											162.0	130.0	141.0					X																	70757809		2203	4300	6503	70674534	SO:0001583	missense	8473			U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.349C>T	X.37:g.70757809C>T	ENSP00000362824:p.Arg117Cys		70674534	Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	ENST00000373719.3	37	CCDS14414.1	.	.	.	.	.	.	.	.	.	.	c	18.55	3.647248	0.67358	.	.	ENSG00000147162	ENST00000373719;ENST00000373701;ENST00000444774	T;T;T	0.61040	0.14;0.14;0.14	4.86	4.86	0.63082	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.105470	0.64402	D	0.000011	T	0.79257	0.4415	M	0.91768	3.24	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.73708	0.981;0.937;0.941	D	0.83643	0.0151	10	0.72032	D	0.01	-19.0221	12.3845	0.55325	0.1679:0.8321:0.0:0.0	.	117;107;117	B4DTL6;O15294-3;O15294	.;.;OGT1_HUMAN	C	117;107;100	ENSP00000362824:R117C;ENSP00000362805:R107C;ENSP00000399729:R100C	ENSP00000362805:R107C	R	+	1	0	OGT	70674534	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.807000	0.47955	2.259000	0.74868	0.525000	0.51046	CGT		0.493	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000081829.3	NM_003605, NM_181672	
MAGEE2	139599	hgsc.bcm.edu	37	X	75004573	75004573	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chrX:75004573G>A	ENST00000373359.2	-	1	506	c.314C>T	c.(313-315)aCg>aTg	p.T105M		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	105	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.T105M(1)		autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGACCCCTCCGTCTGGCTTTT	0.537																																																	1	Substitution - Missense(1)	pancreas(1)	X											34.0	31.0	32.0					X																	75004573		2203	4300	6503	74921298	SO:0001583	missense	139599			AF490509	CCDS14431.1	Xq13	2008-02-05			ENSG00000186675	ENSG00000186675			24935	protein-coding gene	gene with protein product		300760				11454705	Standard	NM_138703		Approved	HCA3	uc004ecj.2	Q8TD90	OTTHUMG00000021870	ENST00000373359.2:c.314C>T	X.37:g.75004573G>A	ENSP00000362457:p.Thr105Met		74921298	Q5JSI5	Missense_Mutation	SNP	ENST00000373359.2	37	CCDS14431.1	.	.	.	.	.	.	.	.	.	.	T	9.578	1.122695	0.20877	.	.	ENSG00000186675	ENST00000373359	T	0.04603	3.59	3.14	-4.36	0.03645	.	.	.	.	.	T	0.01695	0.0054	N	0.11284	0.12	0.09310	N	1	P	0.38167	0.621	B	0.37833	0.259	T	0.32745	-0.9895	9	0.05351	T	0.99	.	1.0479	0.01573	0.2077:0.1197:0.3:0.3726	.	105	Q8TD90	MAGE2_HUMAN	M	105	ENSP00000362457:T105M	ENSP00000362457:T105M	T	-	2	0	MAGEE2	74921298	0.001000	0.12720	0.000000	0.03702	0.197000	0.23852	-1.042000	0.03539	-2.017000	0.00944	-1.907000	0.00523	ACG		0.537	MAGEE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057288.1	NM_138703	
POU3F4	5456	hgsc.bcm.edu	37	X	82763668	82763668	+	Silent	SNP	C	C	T			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chrX:82763668C>T	ENST00000373200.2	+	1	400	c.336C>T	c.(334-336)aaC>aaT	p.N112N	RP3-326L13.2_ENST00000607095.1_RNA|RP3-326L13.3_ENST00000607789.1_lincRNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	112					cochlea morphogenesis (GO:0090103)|forebrain neuron differentiation (GO:0021879)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|sensory perception of sound (GO:0007605)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	AT DNA binding (GO:0003680)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						ACCACCCCAACGCCTGGGGGG	0.657																																																	0			X											33.0	32.0	32.0					X																	82763668		2195	4298	6493	82650324	SO:0001819	synonymous_variant	5456			X82324	CCDS14450.1	Xq21.1	2011-06-20	2007-07-13		ENSG00000196767	ENSG00000196767		"""Homeoboxes / POU class"""	9217	protein-coding gene	gene with protein product	"""brain-4"""	300039	"""POU domain class 3, transcription factor 4"""	DFN3		7911044, 7581392	Standard	NM_000307		Approved	BRN4, OTF9, DFNX2	uc004eeg.2	P49335	OTTHUMG00000021919	ENST00000373200.2:c.336C>T	X.37:g.82763668C>T			82650324	B2RC71|Q5H9G9|Q99410	Silent	SNP	ENST00000373200.2	37	CCDS14450.1																																																																																				0.657	POU3F4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057368.2	NM_000307	
PCDH11X	27328	hgsc.bcm.edu	37	X	91090628	91090628	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chrX:91090628A>G	ENST00000373094.1	+	1	970	c.125A>G	c.(124-126)gAc>gGc	p.D42G	PCDH11X_ENST00000504220.2_Missense_Mutation_p.D42G|PCDH11X_ENST00000406881.1_Missense_Mutation_p.D42G|PCDH11X_ENST00000373088.1_Missense_Mutation_p.D42G|PCDH11X_ENST00000298274.8_Missense_Mutation_p.D42G|PCDH11X_ENST00000361724.1_Missense_Mutation_p.D42G|PCDH11X_ENST00000361655.2_Missense_Mutation_p.D42G|PCDH11X_ENST00000395337.2_Missense_Mutation_p.D42G|PCDH11X_ENST00000373097.1_Missense_Mutation_p.D42G	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	42	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.		D -> G (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		homophilic cell adhesion (GO:0007156)|negative regulation of phosphatase activity (GO:0010923)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D42G(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTGATAGGCGACTTGTTGAAA	0.483																																					NSCLC(38;925 1092 2571 38200 45895)												1	Substitution - Missense(1)	large_intestine(1)	X											172.0	127.0	142.0					X																	91090628		2203	4300	6503	90977284	SO:0001583	missense	83259			AB026187	CCDS14461.1, CCDS14462.1, CCDS55458.1, CCDS55459.1, CCDS55460.1, CCDS55461.1	Xq21.3	2014-06-13	2002-05-22	2002-05-24	ENSG00000102290	ENSG00000102290		"""Cadherins / Protocadherins : Non-clustered"""	8656	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 119"""	300246	"""protocadherin 11"""	PCDH11		10644456	Standard	NM_001168360		Approved	PCDH-X, PCDHX, PPP1R119	uc004efm.2	Q9BZA7	OTTHUMG00000021965	ENST00000373094.1:c.125A>G	X.37:g.91090628A>G	ENSP00000362186:p.Asp42Gly		90977284	A6NIQ4|Q2TJH0|Q2TJH1|Q2TJH3|Q5JVZ0|Q70LR8|Q70LS7|Q70LS8|Q70LS9|Q70LT7|Q70LT8|Q70LT9|Q70LU0|Q70LU1|Q96RV4|Q96RW0|Q9BZA6|Q9H4E0|Q9P2M0|Q9P2X5	Missense_Mutation	SNP	ENST00000373094.1	37	CCDS14461.1	.	.	.	.	.	.	.	.	.	.	A	18.92	3.725815	0.69074	.	.	ENSG00000102290	ENST00000395337;ENST00000373094;ENST00000373097;ENST00000361724;ENST00000373088;ENST00000504220;ENST00000361655;ENST00000406881;ENST00000356934;ENST00000298274	T;T;T;T;T;T;T;T;T	0.28255	1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62;1.62	3.93	3.93	0.45458	Cadherin, N-terminal (1);Cadherin (2);	0.058953	0.64402	D	0.000005	T	0.43211	0.1237	L	0.53249	1.67	0.37930	D	0.931999	P;P;D;D;D;D;P;P	0.56287	0.917;0.564;0.969;0.969;0.969;0.975;0.846;0.846	P;B;P;P;P;P;P;P	0.57244	0.508;0.391;0.719;0.719;0.719;0.816;0.508;0.508	T	0.51252	-0.8729	10	0.72032	D	0.01	.	11.4509	0.50151	1.0:0.0:0.0:0.0	.	42;42;42;42;42;42;42;42	Q9BZA7-6;Q9BZA7-5;Q9BZA7-4;Q9BZA7-8;Q9BZA7-3;Q9BZA7;Q9BZA7-7;Q9BZA7-2	.;.;.;.;.;PC11X_HUMAN;.;.	G	42	ENSP00000378746:D42G;ENSP00000362186:D42G;ENSP00000362189:D42G;ENSP00000355040:D42G;ENSP00000362180:D42G;ENSP00000423762:D42G;ENSP00000355105:D42G;ENSP00000384758:D42G;ENSP00000298274:D42G	ENSP00000298274:D42G	D	+	2	0	PCDH11X	90977284	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	8.349000	0.90067	1.555000	0.49500	0.339000	0.21740	GAC		0.483	PCDH11X-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057436.1	NM_032969	
COL4A5	1287	hgsc.bcm.edu	37	X	107846223	107846223	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chrX:107846223G>T	ENST00000361603.2	+	28	2420	c.2176G>T	c.(2176-2178)Gca>Tca	p.A726S	COL4A5_ENST00000328300.6_Missense_Mutation_p.A726S	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	726	Triple-helical region.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ACCTCCAGGAGCACCTGGGAC	0.448									Alport syndrome with Diffuse Leiomyomatosis																																								0			X											18.0	16.0	17.0					X																	107846223		2202	4298	6500	107732879	SO:0001583	missense	1287	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.2176G>T	X.37:g.107846223G>T	ENSP00000354505:p.Ala726Ser		107732879	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	CCDS14543.1	.	.	.	.	.	.	.	.	.	.	G	8.307	0.821201	0.16678	.	.	ENSG00000188153	ENST00000328300;ENST00000361603;ENST00000508186	D;D	0.93307	-3.2;-3.2	5.84	1.83	0.25207	.	0.571100	0.17049	N	0.189009	D	0.87462	0.6183	L	0.39020	1.185	0.22171	N	0.99931	B;B;B	0.13594	0.008;0.008;0.008	B;B;B	0.16289	0.009;0.015;0.009	T	0.68796	-0.5314	10	0.08837	T	0.75	.	13.2264	0.59916	0.0679:0.5185:0.4136:0.0	.	726;334;726	E7EVY4;Q49AM6;P29400	.;.;CO4A5_HUMAN	S	726	ENSP00000331902:A726S;ENSP00000354505:A726S	ENSP00000331902:A726S	A	+	1	0	COL4A5	107732879	0.998000	0.40836	1.000000	0.80357	0.966000	0.64601	1.178000	0.31981	0.583000	0.29574	-0.218000	0.12543	GCA		0.448	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2		
CCDC160	347475	hgsc.bcm.edu	37	X	133379031	133379031	+	Silent	SNP	T	T	C			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chrX:133379031T>C	ENST00000517294.1	+	3	584	c.201T>C	c.(199-201)atT>atC	p.I67I	CCDC160_ENST00000370809.4_Silent_p.I67I			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	67										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						AAAAATATATTTTCCAACTAA	0.299																																																	0			X											16.0	14.0	14.0					X																	133379031		1772	4012	5784	133206697	SO:0001819	synonymous_variant	0			BC017958	CCDS48171.1	Xq26.2	2010-02-17			ENSG00000203952	ENSG00000203952			37286	protein-coding gene	gene with protein product							Standard	NM_001101357		Approved		uc011mvj.2	A6NGH7	OTTHUMG00000164183	ENST00000517294.1:c.201T>C	X.37:g.133379031T>C			133206697		Silent	SNP	ENST00000517294.1	37	CCDS48171.1																																																																																				0.299	CCDC160-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377679.1	NM_001101357	
RBPJ	3516	hgsc.bcm.edu	37	4	26407829	26407829	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr4:26407829G>A	ENST00000361572.6	+	3	325	c.131G>A	c.(130-132)gGg>gAg	p.G44E	RBPJ_ENST00000511401.1_3'UTR|RBPJ_ENST00000342295.1_Missense_Mutation_p.G44E|RBPJ_ENST00000504907.1_Missense_Mutation_p.G30E|RBPJ_ENST00000507561.1_Missense_Mutation_p.G9E|RBPJ_ENST00000345843.3_Missense_Mutation_p.G29E|RBPJ_ENST00000355476.3_Missense_Mutation_p.G30E|RBPJ_ENST00000348160.4_Missense_Mutation_p.G31E|RBPJ_ENST00000342320.4_Missense_Mutation_p.G30E			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	44					angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G30E(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				AAAGAGCGAGGGGATCAAACA	0.308																																																	1	Substitution - Missense(1)	central_nervous_system(1)	4											108.0	118.0	115.0					4																	26407829		2203	4299	6502	26016927	SO:0001583	missense	3516			L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"""suppressor of hairless homolog (Drosophila)"""	147183	"""recombining binding protein suppressor of hairless (Drosophila)"""	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.131G>A	4.37:g.26407829G>A	ENSP00000354528:p.Gly44Glu		26016927	B4DY22|Q5XKH9|Q6P1N3	Missense_Mutation	SNP	ENST00000361572.6	37	CCDS3437.1	.	.	.	.	.	.	.	.	.	.	G	12.34	1.907826	0.33721	.	.	ENSG00000168214	ENST00000512351;ENST00000510778;ENST00000506956;ENST00000512671;ENST00000345843;ENST00000342295;ENST00000361572;ENST00000514807;ENST00000348160;ENST00000509158;ENST00000355476;ENST00000507561;ENST00000514730;ENST00000507574;ENST00000514675;ENST00000515573;ENST00000511546;ENST00000504907;ENST00000342320;ENST00000504938	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.4	5.4	0.78164	LAG1, DNA binding (1);p53-like transcription factor, DNA-binding (1);	0.095123	0.64402	D	0.000001	T	0.76877	0.4049	L	0.36672	1.1	0.80722	D	1	B;B;B;B;B;B	0.19583	0.009;0.037;0.009;0.015;0.015;0.015	B;B;B;B;B;B	0.29663	0.035;0.035;0.049;0.105;0.105;0.049	T	0.70517	-0.4850	10	0.06099	T	0.92	-10.8904	18.7556	0.91832	0.0:0.0:1.0:0.0	.	44;30;31;30;29;44	B7Z8D8;D6R927;B4DY22;Q06330-6;Q06330-4;Q06330	.;.;.;.;.;SUH_HUMAN	E	30;67;30;44;29;44;44;30;31;30;30;9;30;9;30;9;30;30;30;9	ENSP00000424789:G30E;ENSP00000427170:G67E;ENSP00000425750:G30E;ENSP00000423644:G44E;ENSP00000305815:G29E;ENSP00000345206:G44E;ENSP00000354528:G44E;ENSP00000424989:G30E;ENSP00000339699:G31E;ENSP00000424804:G30E;ENSP00000347659:G30E;ENSP00000423907:G9E;ENSP00000425061:G30E;ENSP00000422617:G9E;ENSP00000423575:G30E;ENSP00000423406:G9E;ENSP00000422838:G30E;ENSP00000423703:G30E;ENSP00000340124:G30E;ENSP00000424459:G9E	ENSP00000345206:G44E	G	+	2	0	RBPJ	26016927	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.178000	0.71968	2.517000	0.84864	0.591000	0.81541	GGG		0.308	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874	
KDR	3791	hgsc.bcm.edu	37	4	55981159	55981159	+	Silent	SNP	G	G	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr4:55981159G>A	ENST00000263923.4	-	5	835	c.540C>T	c.(538-540)gaC>gaT	p.D180D		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	180	Ig-like C2-type 2.				angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|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 focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCTTCTTGCTGTCCCAGGAAA	0.368			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																														Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0			4											64.0	64.0	64.0					4																	55981159		2203	4300	6503	55675916	SO:0001819	synonymous_variant	3791			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.540C>T	4.37:g.55981159G>A			55675916	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Silent	SNP	ENST00000263923.4	37	CCDS3497.1																																																																																				0.368	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250645.1		
ENAM	10117	hgsc.bcm.edu	37	4	71508196	71508196	+	Silent	SNP	A	A	G			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr4:71508196A>G	ENST00000396073.3	+	9	1334	c.1053A>G	c.(1051-1053)agA>agG	p.R351R	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	351					amelogenesis (GO:0097186)|biomineral tissue development (GO:0031214)	proteinaceous extracellular matrix (GO:0005578)				haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CTTTTTACAGAAATCAACAAG	0.413																																																	0			4											97.0	100.0	99.0					4																	71508196		2203	4300	6503	71727060	SO:0001819	synonymous_variant	10117			AF125373	CCDS3544.2	4q13.3	2008-02-05			ENSG00000132464	ENSG00000132464			3344	protein-coding gene	gene with protein product		606585	"""amelogenesis imperfecta 2, hypocalcification (autosomal dominant)"""	AIH2		11978766	Standard	NM_031889		Approved		uc011caw.1	Q9NRM1	OTTHUMG00000129914	ENST00000396073.3:c.1053A>G	4.37:g.71508196A>G			71727060	Q17RI5|Q9H3D1	Silent	SNP	ENST00000396073.3	37	CCDS3544.2																																																																																				0.413	ENAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252166.3	NM_031889	
CCSER1	401145	hgsc.bcm.edu	37	4	92519969	92519969	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr4:92519969C>T	ENST00000509176.1	+	11	2752	c.2464C>T	c.(2464-2466)Cgg>Tgg	p.R822W	CCSER1_ENST00000333691.8_Missense_Mutation_p.R822W	NM_001145065.1	NP_001138537.1	Q9C0I3	CCSE1_HUMAN	coiled-coil serine-rich protein 1	822																	ACAGAACTTACGGGCCACCGT	0.468																																																	0			4											89.0	79.0	82.0					4																	92519969		692	1591	2283	92738992	SO:0001583	missense	0				CCDS47099.1, CCDS47100.1	4q22.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184305	ENSG00000184305			29349	protein-coding gene	gene with protein product			"""family with sequence similarity 190, member A"""	FAM190A		11214970	Standard	NM_001145065		Approved	KIAA1680	uc003hsv.4	Q9C0I3	OTTHUMG00000160950	ENST00000509176.1:c.2464C>T	4.37:g.92519969C>T	ENSP00000425040:p.Arg822Trp		92738992	Q4W5M0|Q86V57	Missense_Mutation	SNP	ENST00000509176.1	37	CCDS47099.1	.	.	.	.	.	.	.	.	.	.	C	12.09	1.833459	0.32421	.	.	ENSG00000184305	ENST00000509176;ENST00000333691	T;T	0.37752	1.18;1.18	5.67	-4.18	0.03846	.	.	.	.	.	T	0.15609	0.0376	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.22068	-1.0227	9	0.62326	D	0.03	-2.0381	0.3357	0.00326	0.3708:0.1986:0.1637:0.2668	.	822	Q9C0I3	F190A_HUMAN	W	822	ENSP00000425040:R822W;ENSP00000329482:R822W	ENSP00000329482:R822W	R	+	1	2	FAM190A	92738992	0.001000	0.12720	0.001000	0.08648	0.501000	0.33797	-0.362000	0.07602	-0.733000	0.04850	-0.142000	0.14014	CGG		0.468	CCSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363109.3	NM_001145065	
ZGRF1	55345	hgsc.bcm.edu	37	4	113538777	113538777	+	Silent	SNP	G	G	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr4:113538777G>A	ENST00000505019.1	-	6	2546	c.2421C>T	c.(2419-2421)ggC>ggT	p.G807G	C4orf21_ENST00000309071.5_Silent_p.G807G|C4orf21_ENST00000445203.2_Silent_p.G776G	NM_018392.4	NP_060862.3	Q86YA3	ZGRF1_HUMAN		807						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AGTATTGTTTGCCTTCTCTGG	0.383																																																	0			4											77.0	72.0	74.0					4																	113538777		2203	4300	6503	113758226	SO:0001819	synonymous_variant	55345																														ENST00000505019.1:c.2421C>T	4.37:g.113538777G>A			113758226	B3KQX2|B4DSN6|B4DYU8|E9PDE1|G5EA02|Q6ZU11|Q9NSW3|Q9NUJ4	Silent	SNP	ENST00000505019.1	37																																																																																					0.383	C4orf21-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000256413.1		
HSPA4L	22824	hgsc.bcm.edu	37	4	128744011	128744011	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr4:128744011A>G	ENST00000296464.4	+	15	2311	c.1900A>G	c.(1900-1902)Agg>Ggg	p.R634G	HSPA4L_ENST00000505726.1_Missense_Mutation_p.R608G|HSPA4L_ENST00000508776.1_Missense_Mutation_p.R634G|HSPA4L_ENST00000439123.2_Missense_Mutation_p.R665G	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like	634					protein folding (GO:0006457)|response to unfolded protein (GO:0006986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						TTTTAGAGACAGGCTGGGCAC	0.343																																																	0			4											66.0	70.0	68.0					4																	128744011		2203	4299	6502	128963461	SO:0001583	missense	22824			AB023421	CCDS3734.1	4q28	2011-09-07			ENSG00000164070	ENSG00000164070		"""Heat shock proteins / HSP70"""	17041	protein-coding gene	gene with protein product						10524232	Standard	NM_014278		Approved	APG-1, Osp94, HSPH3	uc003ifm.3	O95757	OTTHUMG00000133302	ENST00000296464.4:c.1900A>G	4.37:g.128744011A>G	ENSP00000296464:p.Arg634Gly		128963461	A2ICT2|Q4W5M5|Q8IWA2	Missense_Mutation	SNP	ENST00000296464.4	37	CCDS3734.1	.	.	.	.	.	.	.	.	.	.	A	17.52	3.410054	0.62399	.	.	ENSG00000164070	ENST00000508776;ENST00000439123;ENST00000296464;ENST00000505726	T;T;T;T	0.13778	2.56;2.56;2.56;2.56	4.97	4.97	0.65823	.	0.105144	0.64402	D	0.000006	T	0.14917	0.0360	L	0.36672	1.1	0.36364	D	0.860892	B;B	0.22480	0.07;0.024	B;B	0.29176	0.099;0.037	T	0.10474	-1.0628	10	0.87932	D	0	.	14.8163	0.70036	1.0:0.0:0.0:0.0	.	608;634	E9PDE8;O95757	.;HS74L_HUMAN	G	634;665;634;608	ENSP00000422482:R634G;ENSP00000393926:R665G;ENSP00000296464:R634G;ENSP00000425645:R608G	ENSP00000296464:R634G	R	+	1	2	HSPA4L	128963461	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.281000	0.89905	2.098000	0.63641	0.477000	0.44152	AGG		0.343	HSPA4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257096.3	NM_014278	
ADAM29	11086	hgsc.bcm.edu	37	4	175898913	175898913	+	Missense_Mutation	SNP	C	C	T	rs142711835		TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr4:175898913C>T	ENST00000359240.3	+	5	2907	c.2237C>T	c.(2236-2238)aCg>aTg	p.T746M	ADAM29_ENST00000445694.1_Missense_Mutation_p.T746M|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_Missense_Mutation_p.T746M|ADAM29_ENST00000404450.4_Missense_Mutation_p.T746M	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	746	9 X 9 AA approximate repeats.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.T746M(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CCTCCTGTGACGCCTTCCCAG	0.537																																					Ovarian(140;1727 1835 21805 25838 41440)												2	Substitution - Missense(2)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	4											149.0	132.0	138.0					4																	175898913		2203	4300	6503	176135488	SO:0001583	missense	11086			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2237C>T	4.37:g.175898913C>T	ENSP00000352177:p.Thr746Met		176135488	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	Missense_Mutation	SNP	ENST00000359240.3	37	CCDS3823.1	.	.	.	.	.	.	.	.	.	.	C	8.511	0.866447	0.17250	.	.	ENSG00000168594	ENST00000359240;ENST00000445694;ENST00000404450;ENST00000514159	T;T;T;T	0.02015	4.5;4.5;4.5;4.5	1.54	0.582	0.17412	.	.	.	.	.	T	0.01558	0.0050	N	0.08118	0	0.09310	N	1	D	0.62365	0.991	P	0.45998	0.5	T	0.53005	-0.8499	8	.	.	.	.	6.1783	0.20457	0.0:0.802:0.0:0.198	.	746	Q9UKF5	ADA29_HUMAN	M	746	ENSP00000352177:T746M;ENSP00000414544:T746M;ENSP00000384229:T746M;ENSP00000423517:T746M	.	T	+	2	0	ADAM29	176135488	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.798000	0.04565	-0.059000	0.13154	0.478000	0.44815	ACG		0.537	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding			
ENPP6	133121	hgsc.bcm.edu	37	4	185138883	185138883	+	Silent	SNP	C	C	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr4:185138883C>A	ENST00000296741.2	-	1	231	c.90G>T	c.(88-90)ctG>ctT	p.L30L		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	30					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		AACCATCCAGCAGAAACACCA	0.577																																																	0			4											50.0	50.0	50.0					4																	185138883		2203	4300	6503	185375877	SO:0001819	synonymous_variant	133121			AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.90G>T	4.37:g.185138883C>A			185375877	Q4W5Q1|Q96M57	Silent	SNP	ENST00000296741.2	37	CCDS3834.1																																																																																				0.577	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361428.1	NM_153343	
TTC7A	57217	hgsc.bcm.edu	37	2	47233826	47233826	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr2:47233826G>A	ENST00000319190.5	+	10	1618	c.1250G>A	c.(1249-1251)tGg>tAg	p.W417*	TTC7A_ENST00000394850.2_Nonsense_Mutation_p.W417*|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000263737.6_Nonsense_Mutation_p.W63*|TTC7A_ENST00000409245.1_Nonsense_Mutation_p.W383*	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	417					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TTTCACCTTTGGTACCAGGTG	0.612																																																	0			2											120.0	101.0	107.0					2																	47233826		2203	4300	6503	47087330	SO:0001587	stop_gained	57217			AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"""Tetratricopeptide (TTC) repeat domain containing"""	19750	protein-coding gene	gene with protein product		609332	"""tetratricopeptide repeat domain 7"""	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.1250G>A	2.37:g.47233826G>A	ENSP00000316699:p.Trp417*		47087330	Q6PIX4|Q8ND67|Q9BUS3	Nonsense_Mutation	SNP	ENST00000319190.5	37	CCDS33193.1	.	.	.	.	.	.	.	.	.	.	G	37	6.102078	0.97286	.	.	ENSG00000068724	ENST00000409245;ENST00000319190;ENST00000394850;ENST00000263737;ENST00000434093	.	.	.	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.5873	16.9289	0.86184	0.0:0.0:1.0:0.0	.	.	.	.	X	383;417;417;63;244	.	ENSP00000263737:W63X	W	+	2	0	TTC7A	47087330	1.000000	0.71417	1.000000	0.80357	0.041000	0.13682	9.467000	0.97671	2.297000	0.77311	0.467000	0.42956	TGG		0.612	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927	
TTC7A	57217	hgsc.bcm.edu	37	2	47256376	47256376	+	Missense_Mutation	SNP	T	T	G			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr2:47256376T>G	ENST00000319190.5	+	15	2023	c.1655T>G	c.(1654-1656)aTg>aGg	p.M552R	TTC7A_ENST00000394850.2_Missense_Mutation_p.M552R|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000263737.6_Missense_Mutation_p.M198R|TTC7A_ENST00000409245.1_Missense_Mutation_p.M518R	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	552					cellular iron ion homeostasis (GO:0006879)|hemopoiesis (GO:0030097)					breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TCCAGTGCCATGGAGCAGCTG	0.622																																																	0			2											102.0	89.0	94.0					2																	47256376		2203	4300	6503	47109880	SO:0001583	missense	57217			AB032966	CCDS33193.1, CCDS74510.1, CCDS74511.1	2p16.3	2013-01-10	2004-06-02	2004-06-02	ENSG00000068724	ENSG00000068724		"""Tetratricopeptide (TTC) repeat domain containing"""	19750	protein-coding gene	gene with protein product		609332	"""tetratricopeptide repeat domain 7"""	TTC7		10574461	Standard	XM_005264439		Approved	KIAA1140	uc002rvo.3	Q9ULT0	OTTHUMG00000153121	ENST00000319190.5:c.1655T>G	2.37:g.47256376T>G	ENSP00000316699:p.Met552Arg		47109880	Q6PIX4|Q8ND67|Q9BUS3	Missense_Mutation	SNP	ENST00000319190.5	37	CCDS33193.1	.	.	.	.	.	.	.	.	.	.	T	12.35	1.912574	0.33721	.	.	ENSG00000068724	ENST00000409245;ENST00000319190;ENST00000394850;ENST00000263737;ENST00000434093	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.53	4.39	0.52855	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.337631	0.38897	N	0.001527	T	0.38401	0.1039	L	0.34521	1.04	0.49130	D	0.999758	B;B;B;P;B	0.37612	0.116;0.008;0.213;0.602;0.006	B;B;B;B;B	0.41332	0.054;0.045;0.213;0.354;0.026	T	0.18178	-1.0345	10	0.33940	T	0.23	-7.3124	10.0102	0.41981	0.0:0.08:0.0:0.92	.	552;518;552;380;518	Q2T9J9;B3KPK7;Q9ULT0;Q6P0M3;G5E9G4	.;.;TTC7A_HUMAN;.;.	R	518;552;552;198;379	ENSP00000386307:M518R;ENSP00000316699:M552R;ENSP00000378320:M552R;ENSP00000263737:M198R	ENSP00000263737:M198R	M	+	2	0	TTC7A	47109880	1.000000	0.71417	1.000000	0.80357	0.185000	0.23345	4.503000	0.60407	2.107000	0.64212	0.533000	0.62120	ATG		0.622	TTC7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329667.2	XM_372927	
USP34	9736	hgsc.bcm.edu	37	2	61436103	61436103	+	Silent	SNP	T	T	C			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr2:61436103T>C	ENST00000398571.2	-	70	8926	c.8850A>G	c.(8848-8850)agA>agG	p.R2950R	USP34_ENST00000472689.1_5'UTR	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2950					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CTAATAGTATTCTGAAGGCAC	0.294																																																	0			2											75.0	74.0	74.0					2																	61436103		1813	4052	5865	61289607	SO:0001819	synonymous_variant	9736			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.8850A>G	2.37:g.61436103T>C			61289607	A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Silent	SNP	ENST00000398571.2	37	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	T	9.915	1.210533	0.22289	.	.	ENSG00000115464	ENST00000411912	.	.	.	6.0	6.0	0.97389	.	.	.	.	.	T	0.73458	0.3589	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.72297	-0.4335	4	.	.	.	.	16.5044	0.84266	0.0:0.0:0.0:1.0	.	.	.	.	D	710	.	.	N	-	1	0	USP34	61289607	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.140000	0.42159	2.295000	0.77249	0.528000	0.53228	AAT		0.294	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4		
SCTR	6344	hgsc.bcm.edu	37	2	120231099	120231099	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr2:120231099C>T	ENST00000019103.5	-	4	602	c.335G>A	c.(334-336)tGg>tAg	p.W112*	AC013275.2_ENST00000413602.1_RNA	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	112					digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	GGTTTCTGACCAGCCATCCTG	0.542																																																	0			2											108.0	94.0	99.0					2																	120231099		2203	4300	6503	119947569	SO:0001587	stop_gained	6344				CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407	ENST00000019103.5:c.335G>A	2.37:g.120231099C>T	ENSP00000019103:p.Trp112*		119947569	Q12961|Q13213|Q53T00	Nonsense_Mutation	SNP	ENST00000019103.5	37	CCDS2127.1	.	.	.	.	.	.	.	.	.	.	C	39	7.600055	0.98381	.	.	ENSG00000080293	ENST00000019103	.	.	.	4.9	4.9	0.64082	.	0.000000	0.53938	D	0.000057	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.8007	0.85613	0.0:1.0:0.0:0.0	.	.	.	.	X	112	.	ENSP00000019103:W112X	W	-	2	0	SCTR	119947569	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.046000	0.64226	2.539000	0.85634	0.561000	0.74099	TGG		0.542	SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2		
CNTNAP5	129684	hgsc.bcm.edu	37	2	125175154	125175154	+	Silent	SNP	C	C	T	rs368252422		TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr2:125175154C>T	ENST00000431078.1	+	4	880	c.516C>T	c.(514-516)taC>taT	p.Y172Y		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	172	F5/8 type C. {ECO:0000255|PROSITE- ProRule:PRU00081}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.Y172*(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCGAGGTCTACGGATGTTCCT	0.473																																																	1	Substitution - Nonsense(1)	lung(1)	2						C		0,3980		0,0,1990	79.0	82.0	81.0		516	-4.0	0.9	2		81	1,8349		0,1,4174	no	coding-synonymous	CNTNAP5	NM_130773.2		0,1,6164	TT,TC,CC		0.012,0.0,0.0081		172/1307	125175154	1,12329	1990	4175	6165	124891624	SO:0001819	synonymous_variant	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.516C>T	2.37:g.125175154C>T			124891624	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	CCDS46401.1																																																																																				0.473	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3		
NCKAP5	344148	hgsc.bcm.edu	37	2	133540967	133540967	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr2:133540967C>A	ENST00000409261.1	-	14	3790	c.3417G>T	c.(3415-3417)gaG>gaT	p.E1139D	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000473859.1_5'Flank|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E1139D|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1139										NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCAGTCCTTTCTCATGAGCAC	0.498																																																	0			2											129.0	130.0	130.0					2																	133540967		2038	4193	6231	133257437	SO:0001583	missense	0			AB005217	CCDS46417.1, CCDS46418.1	2q21.2	2010-02-17			ENSG00000176771	ENSG00000176771			29847	protein-coding gene	gene with protein product	"""Nck associated protein 5"", ""peripheral clock protein"""	608789				9344857	Standard	NM_207363		Approved	NAP5, ERIH1, ERIH2	uc002ttp.3	O14513	OTTHUMG00000153573	ENST00000409261.1:c.3417G>T	2.37:g.133540967C>A	ENSP00000387128:p.Glu1139Asp		133257437	B8ZZL0|Q29SS9|Q29ST0|Q2NL90|Q6ZVE2|Q8NAS3	Missense_Mutation	SNP	ENST00000409261.1	37	CCDS46418.1	.	.	.	.	.	.	.	.	.	.	C	9.801	1.180518	0.21787	.	.	ENSG00000176771	ENST00000409261;ENST00000317721	T;T	0.13420	2.59;2.59	5.26	-0.00896	0.14002	.	0.190308	0.24933	U	0.034442	T	0.06917	0.0176	N	0.20986	0.625	0.80722	D	1	B	0.24043	0.096	B	0.22152	0.038	T	0.29549	-1.0008	10	0.42905	T	0.14	.	2.7979	0.05406	0.1267:0.5146:0.1258:0.2329	.	1139	O14513	NCKP5_HUMAN	D	1139	ENSP00000387128:E1139D;ENSP00000380603:E1139D	ENSP00000380603:E1139D	E	-	3	2	NCKAP5	133257437	0.994000	0.37717	0.994000	0.49952	0.453000	0.32348	0.193000	0.17116	0.079000	0.16929	-0.143000	0.13931	GAG		0.498	NCKAP5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331663.1	NM_207481	
HOXD1	3231	hgsc.bcm.edu	37	2	177054695	177054695	+	Missense_Mutation	SNP	C	C	T	rs545375951		TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr2:177054695C>T	ENST00000331462.4	+	2	1035	c.812C>T	c.(811-813)aCg>aTg	p.T271M	HOXD-AS1_ENST00000452365.1_RNA|HOXD-AS1_ENST00000413969.1_RNA|HOXD-AS1_ENST00000436126.1_RNA|HOXD-AS1_ENST00000417086.1_RNA|HOXD-AS1_ENST00000425005.1_RNA	NM_024501.2	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	271					embryonic skeletal system development (GO:0048706)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of pain (GO:0019233)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		CTGAATGACACGCAAGTCAAA	0.493																																																	0			2											143.0	156.0	152.0					2																	177054695		2203	4300	6503	176762941	SO:0001583	missense	3231				CCDS2271.1	2q31.1	2011-06-20	2005-12-22		ENSG00000128645	ENSG00000128645		"""Homeoboxes / ANTP class : HOXL subclass"""	5132	protein-coding gene	gene with protein product		142987	"""homeo box D1"""	HOX4, HOX4G		1973146, 1358459	Standard	NM_024501		Approved		uc002ukv.5	Q9GZZ0	OTTHUMG00000132512	ENST00000331462.4:c.812C>T	2.37:g.177054695C>T	ENSP00000328598:p.Thr271Met		176762941	B2RAB4	Missense_Mutation	SNP	ENST00000331462.4	37	CCDS2271.1	.	.	.	.	.	.	.	.	.	.	C	29.6	5.022072	0.93462	.	.	ENSG00000128645	ENST00000331462	D	0.96396	-4.0	5.66	5.66	0.87406	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.49305	D	0.000144	D	0.97932	0.9320	M	0.70108	2.13	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98260	1.0498	10	0.59425	D	0.04	.	19.3354	0.94316	0.0:1.0:0.0:0.0	.	271;271	Q96CA4;Q9GZZ0	.;HXD1_HUMAN	M	271	ENSP00000328598:T271M	ENSP00000328598:T271M	T	+	2	0	HOXD1	176762941	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.793000	0.85851	2.652000	0.90054	0.655000	0.94253	ACG		0.493	HOXD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255693.2		
NYAP2	57624	hgsc.bcm.edu	37	2	226273691	226273691	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr2:226273691A>G	ENST00000272907.6	+	2	508	c.95A>G	c.(94-96)gAt>gGt	p.D32G	NYAP2_ENST00000409269.2_Missense_Mutation_p.D32G	NM_020864.1	NP_065915.1	Q9P242	NYAP2_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 2	32					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												AAGGCCTATGATGGCTTGGTT	0.408																																																	0			2											147.0	132.0	137.0					2																	226273691		1902	4119	6021	225981935	SO:0001583	missense	57624			AB040919	CCDS46529.1	2q36.3	2011-11-30	2011-11-30	2011-11-30	ENSG00000144460	ENSG00000144460			29291	protein-coding gene	gene with protein product		615478	"""KIAA1486"""	KIAA1486		10819331, 21946561	Standard	NM_020864		Approved		uc002voe.2	Q9P242	OTTHUMG00000153450	ENST00000272907.6:c.95A>G	2.37:g.226273691A>G	ENSP00000272907:p.Asp32Gly		225981935	A2RRN4|Q96NL2	Missense_Mutation	SNP	ENST00000272907.6	37	CCDS46529.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.390572	0.82902	.	.	ENSG00000144460	ENST00000272907;ENST00000409269	T	0.45668	0.89	5.92	5.92	0.95590	.	0.133715	0.48767	D	0.000166	T	0.63757	0.2538	M	0.69823	2.125	0.47905	D	0.999544	D;D	0.76494	0.999;0.995	D;P	0.66716	0.946;0.84	T	0.66905	-0.5805	10	0.72032	D	0.01	-24.6172	16.3594	0.83251	1.0:0.0:0.0:0.0	.	32;32	Q9P242-2;Q9P242	.;K1486_HUMAN	G	32	ENSP00000272907:D32G	ENSP00000272907:D32G	D	+	2	0	KIAA1486	225981935	1.000000	0.71417	0.983000	0.44433	0.908000	0.53690	8.330000	0.90019	2.266000	0.75297	0.455000	0.32223	GAT		0.408	NYAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331258.1	NM_020864	
IRS1	3667	hgsc.bcm.edu	37	2	227660499	227660499	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr2:227660499G>A	ENST00000305123.5	-	1	3976	c.2956C>T	c.(2956-2958)Cgg>Tgg	p.R986W	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	986					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TAGTCACCCCGGCTGCTGGGC	0.632																																																	0			2											52.0	56.0	54.0					2																	227660499		2203	4300	6503	227368743	SO:0001583	missense	3667				CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.2956C>T	2.37:g.227660499G>A	ENSP00000304895:p.Arg986Trp		227368743		Missense_Mutation	SNP	ENST00000305123.5	37	CCDS2463.1	.	.	.	.	.	.	.	.	.	.	G	10.58	1.390188	0.25118	.	.	ENSG00000169047	ENST00000305123	T	0.58210	0.35	5.39	3.61	0.41365	.	0.749453	0.11766	N	0.531641	T	0.35038	0.0918	N	0.14661	0.345	0.26105	N	0.980763	D	0.61697	0.99	B	0.43623	0.425	T	0.13282	-1.0515	10	0.66056	D	0.02	-5.6941	6.0027	0.19529	0.0751:0.1356:0.6491:0.1402	.	986	P35568	IRS1_HUMAN	W	986	ENSP00000304895:R986W	ENSP00000304895:R986W	R	-	1	2	IRS1	227368743	0.573000	0.26676	0.728000	0.30774	0.327000	0.28475	1.772000	0.38552	0.846000	0.35142	-0.152000	0.13540	CGG		0.632	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544	
LRRFIP1	9208	hgsc.bcm.edu	37	2	238668758	238668758	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr2:238668758G>A	ENST00000392000.4	+	10	916	c.799G>A	c.(799-801)Gac>Aac	p.D267N	LRRFIP1_ENST00000244815.5_Missense_Mutation_p.D243N|LRRFIP1_ENST00000308482.9_Missense_Mutation_p.D457N|LRRFIP1_ENST00000289175.6_Missense_Mutation_p.D211N	NM_001137552.1	NP_001131024.1	Q32MZ4	LRRF1_HUMAN	leucine rich repeat (in FLII) interacting protein 1	267					innate immune response (GO:0045087)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|protein homodimerization activity (GO:0042803)			NS(1)|breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	29		Breast(86;0.00257)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;9.75e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.01e-10)|Kidney(56;4.85e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.31e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000151)|Lung(119;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0325)|COAD - Colon adenocarcinoma(134;0.228)		AGAGACTTCCGACACCCTCAA	0.398																																																	0			2											111.0	107.0	108.0					2																	238668758		2203	4300	6503	238333497	SO:0001583	missense	9208			AJ223075	CCDS2521.1, CCDS46551.1, CCDS46552.1, CCDS46553.1	2q37.3	2010-09-30			ENSG00000124831	ENSG00000124831			6702	protein-coding gene	gene with protein product	"""GC-binding factor 2"""	603256				9705290, 9525888, 16199883	Standard	NM_004735		Approved	FLAP-1, FLIIAP1, TRIP, GCF-2, HUFI-1	uc002vxe.3	Q32MZ4	OTTHUMG00000133339	ENST00000392000.4:c.799G>A	2.37:g.238668758G>A	ENSP00000375857:p.Asp267Asn		238333497	E9PGZ2|O75766|O75799|Q32MZ5|Q53T49|Q6PKG2|Q9Y607	Missense_Mutation	SNP	ENST00000392000.4	37	CCDS46552.1	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818885	0.71028	.	.	ENSG00000124831	ENST00000308482;ENST00000289175;ENST00000391999;ENST00000244815;ENST00000392000	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.37	2.5	0.30297	.	0.417639	0.27027	N	0.021299	T	0.54935	0.1889	M	0.65498	2.005	0.09310	N	1	P;D;D;D;P	0.65815	0.823;0.995;0.993;0.995;0.723	B;P;P;P;B	0.62184	0.329;0.837;0.899;0.837;0.41	T	0.44050	-0.9353	10	0.38643	T	0.18	-10.3275	3.3125	0.07021	0.1492:0.1366:0.5729:0.1413	.	211;211;267;243;457	B4DPC0;Q32MZ4-3;Q32MZ4;Q32MZ4-2;E9PGZ2	.;.;LRRF1_HUMAN;.;.	N	457;211;447;243;267	ENSP00000310109:D457N;ENSP00000289175:D211N;ENSP00000244815:D243N;ENSP00000375857:D267N	ENSP00000244815:D243N	D	+	1	0	LRRFIP1	238333497	0.002000	0.14202	0.001000	0.08648	0.215000	0.24574	1.243000	0.32767	0.303000	0.22785	0.655000	0.94253	GAC		0.398	LRRFIP1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000317198.1	NM_004735	
SMARCA2	6595	hgsc.bcm.edu	37	9	2058432	2058432	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr9:2058432C>T	ENST00000382203.1	+	8	1698	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	SMARCA2_ENST00000357248.2_Missense_Mutation_p.R497W|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R497W|SMARCA2_ENST00000382194.1_Missense_Mutation_p.R497W			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	497	HSA. {ECO:0000255|PROSITE- ProRule:PRU00549}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		GGAGACAGAGCGGATTGAAAA	0.512																																																	0			9											125.0	111.0	116.0					9																	2058432		2203	4300	6503	2048432	SO:0001583	missense	6595			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.1489C>T	9.37:g.2058432C>T	ENSP00000371638:p.Arg497Trp		2048432	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	ENST00000382203.1	37	CCDS34977.1	.	.	.	.	.	.	.	.	.	.	C	15.49	2.848231	0.51164	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000450198;ENST00000382203;ENST00000382194	T;T;T;T;T	0.74947	-0.89;-0.89;-0.89;-0.89;-0.89	5.52	2.55	0.30701	Helicase/SANT-associated, DNA binding (1);HAS subgroup (1);HSA (1);	0.064020	0.64402	D	0.000010	D	0.88265	0.6390	M	0.91406	3.205	0.80722	D	1	P;D;D	0.89917	0.562;1.0;1.0	B;D;D	0.87578	0.26;0.996;0.998	D	0.89830	0.3995	10	0.87932	D	0	-13.9838	14.9479	0.71047	0.5637:0.4363:0.0:0.0	.	98;497;497	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	W	497	ENSP00000265773:R497W;ENSP00000349788:R497W;ENSP00000392081:R497W;ENSP00000371638:R497W;ENSP00000371629:R497W	ENSP00000265773:R497W	R	+	1	2	SMARCA2	2048432	0.811000	0.29063	0.974000	0.42286	0.961000	0.63080	-0.034000	0.12225	0.241000	0.21283	-0.182000	0.12963	CGG		0.512	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051505.1	NM_003070	
JAK2	3717	hgsc.bcm.edu	37	9	5070031	5070031	+	Silent	SNP	C	C	T			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr9:5070031C>T	ENST00000381652.3	+	12	2114	c.1620C>T	c.(1618-1620)atC>atT	p.I540I	JAK2_ENST00000539801.1_Silent_p.I540I|JAK2_ENST00000544510.1_Silent_p.I391I	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	540					actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)	p.I540_E543>MK(7)|p.I540fs*3(1)|p.I540_E543>KK(1)|p.I540I(1)|p.I540_D544>MK(1)	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	TTCACAAAATCAGAAATGAAG	0.338		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																															Dom	yes		9	9p24	3717	Janus kinase 2		L	11	Complex - deletion inframe(9)|Deletion - Frameshift(1)|Substitution - coding silent(1)	haematopoietic_and_lymphoid_tissue(11)	9											88.0	83.0	84.0					9																	5070031		2202	4300	6502	5060031	SO:0001819	synonymous_variant	3717	Familial Cancer Database			CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1620C>T	9.37:g.5070031C>T			5060031	O14636|O75297	Silent	SNP	ENST00000381652.3	37	CCDS6457.1																																																																																				0.338	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1		
TOPORS	10210	hgsc.bcm.edu	37	9	32541757	32541757	+	Silent	SNP	C	C	T			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr9:32541757C>T	ENST00000360538.2	-	3	2882	c.2766G>A	c.(2764-2766)gaG>gaA	p.E922E	TOPORS_ENST00000379858.1_Silent_p.E857E	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	922				E -> G (in Ref. 1; AAD23379). {ECO:0000305}.	cellular response to DNA damage stimulus (GO:0006974)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|maintenance of protein location in nucleus (GO:0051457)|negative regulation of apoptotic process (GO:0043066)|photoreceptor cell outer segment organization (GO:0035845)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein localization to nucleus (GO:0034504)|protein monoubiquitination (GO:0006513)|protein sumoylation (GO:0016925)|regulation of cell proliferation (GO:0042127)|retina layer formation (GO:0010842)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|gamma-tubulin complex (GO:0000930)|midbody (GO:0030496)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|PML body (GO:0016605)|spindle pole (GO:0000922)|ubiquitin ligase complex (GO:0000151)	antigen binding (GO:0003823)|DNA binding (GO:0003677)|DNA topoisomerase binding (GO:0044547)|SUMO ligase activity (GO:0019789)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E922E(1)		large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		ATTCTGTATCCTCCTTTACTT	0.383																																																	1	Substitution - coding silent(1)	skin(1)	9											207.0	190.0	196.0					9																	32541757		2203	4300	6503	32531757	SO:0001819	synonymous_variant	10210			AF098300	CCDS6527.1, CCDS56566.1	9p21	2013-01-09	2010-09-17		ENSG00000197579	ENSG00000197579		"""RING-type (C3HC4) zinc fingers"""	21653	protein-coding gene	gene with protein product		609507	"""retinitis pigmentosa 31 (autosomal dominant)"", ""topoisomerase I binding, arginine/serine-rich"""	RP31		10352183, 12083797, 17924349	Standard	NM_005802		Approved	TP53BPL, LUN	uc003zrb.3	Q9NS56	OTTHUMG00000019743	ENST00000360538.2:c.2766G>A	9.37:g.32541757C>T			32531757	O43273|Q6P987|Q9NS55|Q9UNR9	Silent	SNP	ENST00000360538.2	37	CCDS6527.1																																																																																				0.383	TOPORS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000052007.1	NM_005802	
OMD	4958	hgsc.bcm.edu	37	9	95179006	95179006	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr9:95179006G>T	ENST00000375550.4	-	2	1110	c.835C>A	c.(835-837)Ctt>Att	p.L279I	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	279					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						ATGTTGGGAAGATTAAAAATA	0.318			T	USP6	aneurysmal bone cysts																																			Dom	yes		9	9q22.31	4958	osteomodulin		M	0			9											67.0	73.0	71.0					9																	95179006		2199	4299	6498	94218827	SO:0001583	missense	4958			AB000114	CCDS6696.1	9q22.31	2008-02-05			ENSG00000127083	ENSG00000127083		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	8134	protein-coding gene	gene with protein product	"""osteoadherin proteoglycan"""						Standard	NM_005014		Approved	osteoadherin, SLRR2C	uc004asd.4	Q99983	OTTHUMG00000020225	ENST00000375550.4:c.835C>A	9.37:g.95179006G>T	ENSP00000364700:p.Leu279Ile		94218827	Q5TBF4	Missense_Mutation	SNP	ENST00000375550.4	37	CCDS6696.1	.	.	.	.	.	.	.	.	.	.	g	6.190	0.403252	0.11754	.	.	ENSG00000127083	ENST00000375550	T	0.71934	-0.61	5.46	3.47	0.39725	.	0.093605	0.42964	D	0.000629	T	0.60090	0.2242	L	0.46947	1.48	0.35285	D	0.781696	B	0.27166	0.17	B	0.26310	0.068	T	0.62243	-0.6895	10	0.17369	T	0.5	-11.168	11.5432	0.50677	0.0:0.1166:0.6542:0.2292	.	279	Q99983	OMD_HUMAN	I	279	ENSP00000364700:L279I	ENSP00000364700:L279I	L	-	1	0	OMD	94218827	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.055000	0.30467	1.402000	0.46780	0.650000	0.86243	CTT		0.318	OMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053090.1	NM_005014	
PTCH1	5727	hgsc.bcm.edu	37	9	98229511	98229511	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr9:98229511T>C	ENST00000331920.6	-	15	2746	c.2447A>G	c.(2446-2448)cAg>cGg	p.Q816R	PTCH1_ENST00000437951.1_Missense_Mutation_p.Q750R|PTCH1_ENST00000421141.1_Missense_Mutation_p.Q665R|PTCH1_ENST00000429896.2_Missense_Mutation_p.Q665R|PTCH1_ENST00000418258.1_Missense_Mutation_p.Q665R|PTCH1_ENST00000375274.2_Missense_Mutation_p.Q815R|PTCH1_ENST00000430669.2_Missense_Mutation_p.Q750R	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	816			Missing (in BCNS). {ECO:0000269|PubMed:8840969}.		brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.Q816L(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AAGTAAGTGCTGGATATTCGG	0.398																																																	1	Substitution - Missense(1)	oesophagus(1)	9	GRCh37	CI962341	PTCH1	I							200.0	189.0	193.0					9																	98229511		2203	4300	6503	97269332	SO:0001583	missense	5727			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.2447A>G	9.37:g.98229511T>C	ENSP00000332353:p.Gln816Arg		97269332	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Missense_Mutation	SNP	ENST00000331920.6	37	CCDS6714.1	.	.	.	.	.	.	.	.	.	.	T	26.2	4.715078	0.89112	.	.	ENSG00000185920	ENST00000331920;ENST00000437951;ENST00000421141;ENST00000418258;ENST00000375275;ENST00000430669;ENST00000429896;ENST00000375274	D;D;D;D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68;-2.68;-2.68;-2.68	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	D	0.94335	0.8179	M	0.64997	1.995	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.994;0.988;0.999	D	0.94214	0.7461	10	0.49607	T	0.09	-20.2032	16.0121	0.80409	0.0:0.0:0.0:1.0	.	750;815;816	Q13635-3;Q13635-2;Q13635	.;.;PTC1_HUMAN	R	816;750;665;665;252;750;665;815	ENSP00000332353:Q816R;ENSP00000389744:Q750R;ENSP00000399981:Q665R;ENSP00000396135:Q665R;ENSP00000410287:Q750R;ENSP00000414823:Q665R;ENSP00000364423:Q815R	ENSP00000332353:Q816R	Q	-	2	0	PTCH1	97269332	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.180000	0.69256	0.482000	0.46254	CAG		0.398	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264	
CYLC2	1539	hgsc.bcm.edu	37	9	105767111	105767111	+	Silent	SNP	C	C	T			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr9:105767111C>T	ENST00000374798.3	+	4	385	c.315C>T	c.(313-315)gtC>gtT	p.V105V	CYLC2_ENST00000487798.1_Silent_p.V105V	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	105	31 X 3 AA repeats of K-K-X.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				CTCGTACTGTCGAGGTGGATT	0.368																																																	0			9											59.0	59.0	59.0					9																	105767111		2203	4300	6503	104806932	SO:0001819	synonymous_variant	1539			Z46788	CCDS35085.1	9q31.2	2008-07-21			ENSG00000155833	ENSG00000155833			2583	protein-coding gene	gene with protein product		604035				7737358	Standard	NM_001340		Approved		uc004bbs.2	Q14093	OTTHUMG00000020396	ENST00000374798.3:c.315C>T	9.37:g.105767111C>T			104806932	B2R8F4|Q5VVJ9	Silent	SNP	ENST00000374798.3	37	CCDS35085.1																																																																																				0.368	CYLC2-001	KNOWN	alternative_3_UTR|NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000053463.3	NM_001340	
ACTL7B	10880	hgsc.bcm.edu	37	9	111617966	111617966	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr9:111617966C>T	ENST00000374667.3	-	1	1273	c.245G>A	c.(244-246)cGc>cAc	p.R82H		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	82						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CTCGGGGCAGCGTTTGCCCAC	0.647																																																	0			9											85.0	85.0	85.0					9																	111617966		2203	4300	6503	110657787	SO:0001583	missense	10880			BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.245G>A	9.37:g.111617966C>T	ENSP00000363799:p.Arg82His		110657787	B2R9Q2|Q5JSV1	Missense_Mutation	SNP	ENST00000374667.3	37	CCDS6771.1	.	.	.	.	.	.	.	.	.	.	C	8.418	0.845624	0.16963	.	.	ENSG00000148156	ENST00000374667	D	0.97161	-4.27	4.27	-0.171	0.13331	.	.	.	.	.	D	0.88544	0.6465	N	0.02247	-0.625	0.25928	N	0.983037	B	0.11235	0.004	B	0.06405	0.002	T	0.81814	-0.0760	9	0.87932	D	0	.	5.6417	0.17567	0.0:0.29:0.4992:0.2108	.	82	Q9Y614	ACL7B_HUMAN	H	82	ENSP00000363799:R82H	ENSP00000363799:R82H	R	-	2	0	ACTL7B	110657787	0.000000	0.05858	0.799000	0.32177	0.229000	0.25112	-0.497000	0.06428	0.086000	0.17137	0.655000	0.94253	CGC		0.647	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053571.1	NM_006686	
SPTAN1	6709	hgsc.bcm.edu	37	9	131353800	131353800	+	Silent	SNP	G	G	A	rs140279996	byFrequency	TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr9:131353800G>A	ENST00000372731.4	+	22	3161	c.3051G>A	c.(3049-3051)ccG>ccA	p.P1017P	SPTAN1_ENST00000358161.5_Silent_p.P1017P|SPTAN1_ENST00000372739.3_Silent_p.P1017P	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	1017	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.		P -> S (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GTTTTGTGCCGGCTGCGTACG	0.527													g|||	10	0.00199681	0.0	0.0	5008	,	,		18251	0.0099		0.0	False		,,,				2504	0.0				NSCLC(120;833 1744 2558 35612 37579)												0			9						A	,,	19,4387	27.2+/-55.0	0,19,2184	139.0	136.0	137.0		3051,3051,3051	-11.8	0.3	9	dbSNP_134	137	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	SPTAN1	NM_001130438.2,NM_001195532.1,NM_003127.3	,,	0,21,6482	AA,AG,GG		0.0233,0.4312,0.1615	,,	1017/2478,1017/2453,1017/2473	131353800	21,12985	2203	4300	6503	130393621	SO:0001819	synonymous_variant	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.3051G>A	9.37:g.131353800G>A			130393621	Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	ENST00000372731.4	37	CCDS6905.1																																																																																				0.527	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054472.1	NM_003127	
GTF3C4	9329	hgsc.bcm.edu	37	9	135554146	135554146	+	Silent	SNP	T	T	C			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr9:135554146T>C	ENST00000372146.4	+	2	1704	c.1140T>C	c.(1138-1140)taT>taC	p.Y380Y	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	380					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		TGCCACTTTATCATCCTTACC	0.428																																					Pancreas(142;417 1875 11086 31973 47667)												0			9											152.0	150.0	151.0					9																	135554146		2203	4300	6503	134543967	SO:0001819	synonymous_variant	9329			AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""General transcription factors"""	4667	protein-coding gene	gene with protein product		604892	"""general transcription factor IIIC, polypeptide 4 (90kD)"""			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.1140T>C	9.37:g.135554146T>C			134543967	Q5VZJ7	Silent	SNP	ENST00000372146.4	37	CCDS6953.1																																																																																				0.428	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1		
KCNT1	57582	hgsc.bcm.edu	37	9	138657014	138657014	+	Silent	SNP	C	C	T	rs374015551		TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr9:138657014C>T	ENST00000263604.3	+	12	1116	c.1116C>T	c.(1114-1116)aaC>aaT	p.N372N	KCNT1_ENST00000371757.2_Silent_p.N391N|KCNT1_ENST00000486577.2_Silent_p.N352N|KCNT1_ENST00000491806.2_Silent_p.N358N|KCNT1_ENST00000488444.2_Silent_p.N372N|KCNT1_ENST00000298480.5_Silent_p.N391N|KCNT1_ENST00000490355.2_Silent_p.N372N|KCNT1_ENST00000487664.1_Silent_p.N346N			Q5JUK3	KCNT1_HUMAN	potassium channel, subfamily T, member 1	372					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ACTTCCTGAACGAGTTCTACG	0.642																																																	0			9						T		0,4406		0,0,2203	185.0	170.0	175.0		1173	-7.7	0.7	9		175	2,8598	1.2+/-3.3	0,2,4298	no	coding-synonymous	KCNT1	NM_020822.2		0,2,6501	TT,TC,CC		0.0233,0.0,0.0154		391/1236	138657014	2,13004	2203	4300	6503	137796835	SO:0001819	synonymous_variant	57582			AB037843	CCDS35175.1, CCDS35175.2, CCDS65188.1	9q34.3	2012-07-05			ENSG00000107147	ENSG00000107147		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18865	protein-coding gene	gene with protein product		608167				10718198, 16382103	Standard	NM_020822		Approved	KCa4.1, KIAA1422	uc011mdq.2	Q5JUK3	OTTHUMG00000020917	ENST00000263604.3:c.1116C>T	9.37:g.138657014C>T			137796835	B3KXF7|B7ZVY4|B9EGP2|G5E9V0|Q9P2C5	Silent	SNP	ENST00000263604.3	37																																																																																					0.642	KCNT1-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_020822	
ZC3H13	23091	hgsc.bcm.edu	37	13	46619620	46619620	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr13:46619620A>G	ENST00000242848.4	-	2	371	c.23T>C	c.(22-24)gTc>gCc	p.V8A	ZC3H13_ENST00000282007.3_Missense_Mutation_p.V8A			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	8							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TTCCACTGTGACCTTCCTTCT	0.408																																					Esophageal Squamous(187;747 2077 11056 31291 44172)												0			13											197.0	201.0	199.0					13																	46619620		2203	4300	6503	45517621	SO:0001583	missense	23091			AB020660	CCDS9400.1	13q14.11	2012-07-05	2006-05-15	2006-05-15	ENSG00000123200	ENSG00000123200		"""Zinc fingers, CCCH-type domain containing"""	20368	protein-coding gene	gene with protein product			"""KIAA0853"""	KIAA0853		10048485	Standard	XM_005266301		Approved	DKFZp434D1812	uc001vas.1	Q5T200	OTTHUMG00000016863	ENST00000242848.4:c.23T>C	13.37:g.46619620A>G	ENSP00000242848:p.Val8Ala		45517621	A2A323|O94936|Q5T1Z9|Q7Z7J3|Q8NDT6|Q9H0L6	Missense_Mutation	SNP	ENST00000242848.4	37		.	.	.	.	.	.	.	.	.	.	A	15.08	2.728530	0.48833	.	.	ENSG00000123200	ENST00000242848;ENST00000282007;ENST00000428921	T;T	0.45668	1.86;0.89	5.5	5.5	0.81552	.	0.000000	0.49916	D	0.000136	T	0.45637	0.1352	N	0.08118	0	0.80722	D	1	D;D	0.71674	0.997;0.998	D;D	0.77557	0.978;0.99	T	0.58148	-0.7687	10	0.87932	D	0	.	15.6151	0.76760	1.0:0.0:0.0:0.0	.	8;8	Q5T200;Q5T200-2	ZC3HD_HUMAN;.	A	8	ENSP00000242848:V8A;ENSP00000282007:V8A	ENSP00000242848:V8A	V	-	2	0	ZC3H13	45517621	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.930000	0.92872	2.096000	0.63516	0.477000	0.44152	GTC		0.408	ZC3H13-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000044789.1	NM_015070	
RB1	5925	hgsc.bcm.edu	37	13	48951156	48951156	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr13:48951156G>A	ENST00000267163.4	+	13	1456	c.1318G>A	c.(1318-1320)Gaa>Aaa	p.E440K		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	440	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(8)|p.E440*(3)|p.E440K(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GGGTTGTGTCGAAATTGGATC	0.343		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	27	Whole gene deletion(15)|Unknown(8)|Substitution - Nonsense(3)|Substitution - Missense(1)	bone(11)|breast(5)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|lung(2)|adrenal_gland(1)|eye(1)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	13											108.0	116.0	113.0					13																	48951156		2203	4299	6502	47849157	SO:0001583	missense	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.1318G>A	13.37:g.48951156G>A	ENSP00000267163:p.Glu440Lys		47849157	A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	ENST00000267163.4	37	CCDS31973.1	.	.	.	.	.	.	.	.	.	.	G	18.66	3.670860	0.67814	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.88046	-2.33	5.93	5.93	0.95920	Retinoblastoma-associated protein, A-box (1);Cyclin-like (2);	0.338832	0.34700	N	0.003741	D	0.86548	0.5959	M	0.68593	2.085	0.49130	D	0.99975	B	0.33612	0.419	B	0.28232	0.087	D	0.84758	0.0760	10	0.45353	T	0.12	.	20.3495	0.98807	0.0:0.0:1.0:0.0	.	440	P06400	RB_HUMAN	K	419;440	ENSP00000267163:E440K	ENSP00000267163:E440K	E	+	1	0	RB1	47849157	1.000000	0.71417	0.994000	0.49952	0.988000	0.76386	6.496000	0.73670	2.814000	0.96858	0.591000	0.81541	GAA		0.343	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
RBM26	64062	hgsc.bcm.edu	37	13	79896553	79896553	+	Silent	SNP	C	C	T			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr13:79896553C>T	ENST00000438737.2	-	21	3305	c.2865G>A	c.(2863-2865)ctG>ctA	p.L955L	RBM26_ENST00000438724.1_Silent_p.L931L|RBM26_ENST00000267229.7_Silent_p.L928L			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	955	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|negative regulation of phosphatase activity (GO:0010923)		metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		TATTCCATGCCAGTTTTAGAT	0.308																																																	0			13											118.0	115.0	116.0					13																	79896553		2203	4300	6503	78794554	SO:0001819	synonymous_variant	64062			AF116667	CCDS9462.1, CCDS66566.1, CCDS73591.1	13q31.1	2014-06-13	2006-06-22	2006-06-22	ENSG00000139746	ENSG00000139746		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	20327	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 2"", ""protein phosphatase 1, regulatory 132"""		"""chromosome 13 open reading frame 10"""	C13orf10		11149944, 15741184	Standard	XM_005266497		Approved	PRO1777, SE70-2, FLJ20957, ZC3H17, ARRS2, PPP1R132	uc001vky.2	Q5T8P6	OTTHUMG00000017133	ENST00000438737.2:c.2865G>A	13.37:g.79896553C>T			78794554	B4DZE0|Q2NKM2|Q2NKQ2|Q5CZH8|Q5T8P5|Q5T8P8|Q5U5P5|Q5W0G7|Q8N3H5|Q96K92|Q96SZ3|Q9H2F8|Q9H7F9|Q9P1G7	Silent	SNP	ENST00000438737.2	37																																																																																					0.308	RBM26-004	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000045373.4	NM_022118	
COL4A2	1284	hgsc.bcm.edu	37	13	111102776	111102776	+	Silent	SNP	G	G	C			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr13:111102776G>C	ENST00000360467.5	+	20	1620	c.1314G>C	c.(1312-1314)ggG>ggC	p.G438G		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	438	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GACCCCCCGGGCTCCCTGGAC	0.622																																																	0			13											28.0	33.0	32.0					13																	111102776		1847	4085	5932	109900777	SO:0001819	synonymous_variant	1284			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.1314G>C	13.37:g.111102776G>C			109900777	Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	ENST00000360467.5	37	CCDS41907.1																																																																																				0.622	COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846	
KIAA1462	57608	hgsc.bcm.edu	37	10	30317347	30317347	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr10:30317347T>C	ENST00000375377.1	-	3	1831	c.1730A>G	c.(1729-1731)gAg>gGg	p.E577G		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	577					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						AAATATAGTCTCGTTCATTTT	0.418																																																	0			10											99.0	98.0	99.0					10																	30317347		1833	4085	5918	30357353	SO:0001583	missense	57608			AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.1730A>G	10.37:g.30317347T>C	ENSP00000364526:p.Glu577Gly		30357353	Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	Missense_Mutation	SNP	ENST00000375377.1	37	CCDS41500.1	.	.	.	.	.	.	.	.	.	.	T	14.33	2.504251	0.44558	.	.	ENSG00000165757	ENST00000375377	T	0.18960	2.18	5.62	3.23	0.37069	.	0.159020	0.53938	D	0.000053	T	0.40398	0.1115	M	0.72894	2.215	0.48395	D	0.999647	D	0.89917	1.0	D	0.71414	0.973	T	0.11767	-1.0574	10	0.66056	D	0.02	-29.8284	8.3572	0.32338	0.0:0.0697:0.1372:0.793	.	577	Q9P266	K1462_HUMAN	G	577	ENSP00000364526:E577G	ENSP00000364526:E577G	E	-	2	0	KIAA1462	30357353	1.000000	0.71417	0.254000	0.24359	0.003000	0.03518	4.569000	0.60865	0.397000	0.25310	-0.441000	0.05720	GAG		0.418	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848	
FAM170B	170370	hgsc.bcm.edu	37	10	50339903	50339903	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr10:50339903C>T	ENST00000311787.5	-	2	696	c.607G>A	c.(607-609)Ggg>Agg	p.G203R	FAM170B-AS1_ENST00000435809.1_RNA|FAM170B-AS1_ENST00000442525.1_RNA|FAM170B-AS1_ENST00000443389.1_RNA	NM_001164484.1	NP_001157956.1	A6NMN3	F170B_HUMAN	family with sequence similarity 170, member B	203										central_nervous_system(1)|endometrium(1)|skin(1)	3						CAGCGCACCCCGTAGTTGGTG	0.667																																																	0			10											13.0	15.0	14.0					10																	50339903		692	1590	2282	50009909	SO:0001583	missense	170370				CCDS53536.1	10q11.23	2008-11-06	2008-06-12	2008-06-12	ENSG00000172538	ENSG00000172538			19736	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 73"""	C10orf73			Standard	NM_001164484		Approved	Em:AC084727.4	uc001jhj.3	A6NMN3	OTTHUMG00000018187	ENST00000311787.5:c.607G>A	10.37:g.50339903C>T	ENSP00000308292:p.Gly203Arg		50009909	Q86WY6|Q8N6K8	Missense_Mutation	SNP	ENST00000311787.5	37	CCDS53536.1	.	.	.	.	.	.	.	.	.	.	C	16.53	3.148966	0.57151	.	.	ENSG00000172538	ENST00000311787	T	0.47528	0.84	5.64	5.64	0.86602	.	0.000000	0.56097	D	0.000024	T	0.63165	0.2488	L	0.50333	1.59	0.38128	D	0.938077	D	0.89917	1.0	D	0.74674	0.984	T	0.67558	-0.5640	10	0.87932	D	0	-72.8424	15.2627	0.73637	0.0:1.0:0.0:0.0	.	203	A6NMN3	F170B_HUMAN	R	203	ENSP00000308292:G203R	ENSP00000308292:G203R	G	-	1	0	FAM170B	50009909	0.905000	0.30787	0.957000	0.39632	0.115000	0.19883	2.389000	0.44407	2.669000	0.90835	0.603000	0.83216	GGG		0.667	FAM170B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047974.1	XM_096317	
ADAMTS14	140766	hgsc.bcm.edu	37	10	72462145	72462145	+	Silent	SNP	C	C	T			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr10:72462145C>T	ENST00000373207.1	+	3	600	c.600C>T	c.(598-600)agC>agT	p.S200S	ADAMTS14_ENST00000373208.1_Silent_p.S200S	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	200					collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						AGGAGGCCAGCGGGAGGACAC	0.647																																																	0			10											64.0	70.0	68.0					10																	72462145		2203	4300	6503	72132151	SO:0001819	synonymous_variant	140766			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.600C>T	10.37:g.72462145C>T			72132151	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP	ENST00000373207.1	37	CCDS7306.1																																																																																				0.647	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722	
KAT6B	23522	hgsc.bcm.edu	37	10	76788700	76788700	+	Missense_Mutation	SNP	A	A	G	rs373140884		TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr10:76788700A>G	ENST00000287239.4	+	18	4607	c.4118A>G	c.(4117-4119)gAa>gGa	p.E1373G	KAT6B_ENST00000372725.1_Missense_Mutation_p.E1081G|KAT6B_ENST00000372724.1_Missense_Mutation_p.E1081G|KAT6B_ENST00000372714.1_Missense_Mutation_p.E1081G|KAT6B_ENST00000372711.1_Missense_Mutation_p.E1190G	NM_001256468.1|NM_012330.3	NP_001243397.1|NP_036462.2	Q8WYB5	KAT6B_HUMAN	K(lysine) acetyltransferase 6B	1373	Poly-Glu.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	acetyltransferase activity (GO:0016407)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.E1373G(1)									gaagaagaagaaggaggagga	0.448																																																	1	Substitution - Missense(1)	ovary(1)	10						A	GLY/GLU	1,4405	2.1+/-5.4	0,1,2202	51.0	50.0	50.0		4118	2.5	0.0	10		50	0,8600		0,0,4300	no	missense	KAT6B	NM_012330.2	98	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	benign	1373/2074	76788700	1,13005	2203	4300	6503	76458706	SO:0001583	missense	23522			AF113514	CCDS7345.1, CCDS58084.1, CCDS58085.1	10q22.2	2013-01-28	2011-07-21	2011-07-21	ENSG00000156650	ENSG00000156650		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	17582	protein-coding gene	gene with protein product	"""MOZ-related factor"""	605880	"""MYST histone acetyltransferase (monocytic leukemia) 4"""	MYST4		9205841, 10497217	Standard	NM_012330		Approved	querkopf, qkf, Morf, MOZ2, ZC2HC6B	uc001jwn.2	Q8WYB5	OTTHUMG00000018509	ENST00000287239.4:c.4118A>G	10.37:g.76788700A>G	ENSP00000287239:p.Glu1373Gly		76458706	O15087|Q86Y05|Q8WU81|Q9UKW2|Q9UKW3|Q9UKX0	Missense_Mutation	SNP	ENST00000287239.4	37	CCDS7345.1	.	.	.	.	.	.	.	.	.	.	A	0.012	-1.671003	0.00758	2.27E-4	0.0	ENSG00000156650	ENST00000372725;ENST00000372724;ENST00000287239;ENST00000372714;ENST00000372711	T;T;T;T;T	0.78924	1.12;1.12;-1.22;1.12;-1.21	3.69	2.5	0.30297	.	0.141093	0.31963	N	0.006799	T	0.59142	0.2172	N	0.19112	0.55	0.19300	N	0.999979	B;P;B	0.40731	0.275;0.728;0.18	B;B;B	0.36186	0.088;0.219;0.04	T	0.52366	-0.8585	10	0.48119	T	0.1	-2.877	8.4038	0.32603	0.8007:0.1992:0.0:0.0	.	1190;1081;1373	Q8WYB5-2;Q8WYB5-3;Q8WYB5	.;.;KAT6B_HUMAN	G	1081;1081;1373;1081;1190	ENSP00000361810:E1081G;ENSP00000361809:E1081G;ENSP00000287239:E1373G;ENSP00000361799:E1081G;ENSP00000361796:E1190G	ENSP00000287239:E1373G	E	+	2	0	KAT6B	76458706	0.428000	0.25522	0.007000	0.13788	0.001000	0.01503	0.602000	0.24134	0.415000	0.25817	-0.622000	0.04023	GAA		0.448	KAT6B-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048771.1	NM_012330	
PTEN	5728	hgsc.bcm.edu	37	10	89692958	89692958	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr10:89692958G>T	ENST00000371953.3	+	5	1799	c.442G>T	c.(442-444)Gca>Tca	p.A148S		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	148	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.A148T(2)|p.K147fs*5(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATTTTTAAAGGCACAAGAGGC	0.383		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	53	Whole gene deletion(37)|Deletion - Frameshift(9)|Unknown(5)|Substitution - Missense(2)	prostate(16)|central_nervous_system(13)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	10											71.0	72.0	72.0					10																	89692958		2203	4300	6503	89682938	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.442G>T	10.37:g.89692958G>T	ENSP00000361021:p.Ala148Ser		89682938	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	27.7	4.853104	0.91355	.	.	ENSG00000171862	ENST00000371953	D	0.85861	-2.04	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.87759	0.6258	M	0.83603	2.65	0.80722	D	1	P	0.43938	0.822	B	0.41946	0.371	D	0.88677	0.3199	9	.	.	.	-10.9741	18.7776	0.91918	0.0:0.0:1.0:0.0	.	148	P60484	PTEN_HUMAN	S	148	ENSP00000361021:A148S	.	A	+	1	0	PTEN	89682938	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.546000	0.82137	2.411000	0.81874	0.655000	0.94253	GCA		0.383	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PTEN	5728	hgsc.bcm.edu	37	10	89717763	89717763	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr10:89717763A>G	ENST00000371953.3	+	7	2145	c.788A>G	c.(787-789)aAg>aGg	p.K263R	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	263	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAACAGAACAAGATGCTAAAA	0.368		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	48	Whole gene deletion(37)|Deletion - Frameshift(9)|Deletion - In frame(1)|Unknown(1)	prostate(16)|central_nervous_system(10)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)	10											95.0	87.0	89.0					10																	89717763		2203	4300	6503	89707743	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.788A>G	10.37:g.89717763A>G	ENSP00000361021:p.Lys263Arg		89707743	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	18.40	3.615978	0.66672	.	.	ENSG00000171862	ENST00000371953	D	0.85955	-2.05	5.15	5.15	0.70609	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.093551	0.64402	D	0.000001	D	0.84410	0.5466	L	0.55743	1.74	0.80722	D	1	P	0.47191	0.891	P	0.45753	0.492	D	0.84155	0.0425	9	.	.	.	-10.1303	14.9657	0.71193	1.0:0.0:0.0:0.0	.	263	P60484	PTEN_HUMAN	R	263	ENSP00000361021:K263R	.	K	+	2	0	PTEN	89707743	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.918000	0.92759	1.928000	0.55862	0.477000	0.44152	AAG		0.368	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
SDHA	6389	hgsc.bcm.edu	37	5	225588	225588	+	Missense_Mutation	SNP	T	T	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr5:225588T>A	ENST00000264932.6	+	4	482	c.367T>A	c.(367-369)Ttc>Atc	p.F123I	SDHA_ENST00000504309.1_Missense_Mutation_p.F123I|SDHA_ENST00000510361.1_Intron	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	123					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	GAGGTGGCATTTCTACGACAC	0.607									Familial Paragangliomas																																								0			5											60.0	66.0	64.0					5																	225588		2203	4297	6500	278588	SO:0001583	missense	6389	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.367T>A	5.37:g.225588T>A	ENSP00000264932:p.Phe123Ile		278588	A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	ENST00000264932.6	37	CCDS3853.1	.	.	.	.	.	.	.	.	.	.	-	18.47	3.630004	0.67015	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309	T;T	0.70516	-0.49;-0.49	5.27	5.27	0.74061	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.000000	0.85682	U	0.000000	T	0.62612	0.2442	L	0.35542	1.07	0.80722	D	1	B;B;B;B	0.33512	0.254;0.415;0.236;0.236	B;B;B;B	0.35859	0.212;0.212;0.212;0.212	T	0.66148	-0.5996	10	0.62326	D	0.03	.	13.4858	0.61364	0.0:0.0:0.0:1.0	.	123;123;123;129	B4DYN5;D6RFM5;P31040;Q59GW8	.;.;DHSA_HUMAN;.	I	123	ENSP00000264932:F123I;ENSP00000426514:F123I	ENSP00000264932:F123I	F	+	1	0	SDHA	278588	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.450000	0.80656	2.136000	0.66102	0.524000	0.50904	TTC		0.607	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206599.1	NM_004168	
DNAH5	1767	hgsc.bcm.edu	37	5	13809285	13809285	+	Silent	SNP	C	C	T	rs541631905	byFrequency	TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr5:13809285C>T	ENST00000265104.4	-	46	7724	c.7620G>A	c.(7618-7620)acG>acA	p.T2540T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2540					cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGTTCCAGTGCGTCCATGTAC	0.448									Kartagener syndrome				C|||	2	0.000399361	0.0	0.0	5008	,	,		16908	0.002		0.0	False		,,,				2504	0.0																0			5											154.0	144.0	148.0					5																	13809285		2203	4300	6503	13862285	SO:0001819	synonymous_variant	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.7620G>A	5.37:g.13809285C>T			13862285	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	ENST00000265104.4	37	CCDS3882.1																																																																																				0.448	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
APC	324	hgsc.bcm.edu	37	5	112128145	112128145	+	Silent	SNP	A	A	G			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr5:112128145A>G	ENST00000457016.1	+	7	1028	c.648A>G	c.(646-648)cgA>cgG	p.R216R	APC_ENST00000257430.4_Silent_p.R216R|APC_ENST00000508376.2_Silent_p.R216R			P25054	APC_HUMAN	adenomatous polyposis coli	216	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TATTTTAGCGAAGAATAGCCA	0.323		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	0			5											57.0	55.0	56.0					5																	112128145		2202	4300	6502	112156044	SO:0001819	synonymous_variant	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.648A>G	5.37:g.112128145A>G			112156044	D3DT03|Q15162|Q15163|Q93042	Silent	SNP	ENST00000457016.1	37	CCDS4107.1																																																																																				0.323	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112174235	112174235	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr5:112174235T>C	ENST00000457016.1	+	16	3324	c.2944T>C	c.(2944-2946)Tcg>Ccg	p.S982P	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.S982P|APC_ENST00000508376.2_Missense_Mutation_p.S982P			P25054	APC_HUMAN	adenomatous polyposis coli	982	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AATGAAACCCTCGATTGAATC	0.353		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	1	Unknown(1)	skin(1)	5											80.0	75.0	76.0					5																	112174235		2202	4300	6502	112202134	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.2944T>C	5.37:g.112174235T>C	ENSP00000413133:p.Ser982Pro		112202134	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	T	16.80	3.222028	0.58560	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.95853	-3.05;-3.83;-3.05;-3.05;-3.24	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.93298	0.7864	L	0.55481	1.735	0.58432	D	0.999996	B;B	0.31968	0.349;0.349	B;B	0.31442	0.13;0.13	D	0.91736	0.5400	10	0.29301	T	0.29	-11.855	15.2326	0.73404	0.0:0.0:0.0:1.0	.	984;982	Q4LE70;P25054	.;APC_HUMAN	P	982;964;982;982;982	ENSP00000413133:S982P;ENSP00000423224:S964P;ENSP00000257430:S982P;ENSP00000427089:S982P;ENSP00000423828:S982P	ENSP00000257430:S982P	S	+	1	0	APC	112202134	1.000000	0.71417	0.957000	0.39632	0.949000	0.60115	7.303000	0.78871	2.197000	0.70478	0.528000	0.53228	TCG		0.353	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175172	112175172	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr5:112175172A>G	ENST00000457016.1	+	16	4261	c.3881A>G	c.(3880-3882)cAg>cGg	p.Q1294R	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.Q1294R|APC_ENST00000508376.2_Missense_Mutation_p.Q1294R			P25054	APC_HUMAN	adenomatous polyposis coli	1294	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.T1293fs*2(1)|p.Q1294fs*11(1)|p.K1192fs*3(1)|p.?(1)|p.Q1294fs*6(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAGACGACACAGGAAGCAGAT	0.378		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	5	Deletion - Frameshift(4)|Unknown(1)	large_intestine(3)|soft_tissue(1)|skin(1)	5											55.0	57.0	56.0					5																	112175172		2202	4300	6502	112203071	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.3881A>G	5.37:g.112175172A>G	ENSP00000413133:p.Gln1294Arg		112203071	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	3.953	-0.011958	0.07727	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D	0.89810	-2.38;-2.38;-2.38;-2.57	5.73	4.42	0.53409	.	0.122222	0.53938	D	0.000054	T	0.71239	0.3316	N	0.04880	-0.145	0.29307	N	0.868295	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.58020	-0.7710	9	.	.	.	-3.559	3.8814	0.09080	0.7086:0.0:0.2914:0.0	.	1296;1294	Q4LE70;P25054	.;APC_HUMAN	R	1294	ENSP00000413133:Q1294R;ENSP00000257430:Q1294R;ENSP00000427089:Q1294R;ENSP00000423828:Q1294R	.	Q	+	2	0	APC	112203071	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.532000	0.53553	2.308000	0.77769	0.533000	0.62120	CAG		0.378	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175303	112175303	+	Nonsense_Mutation	SNP	C	C	T	rs121913327		TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr5:112175303C>T	ENST00000457016.1	+	16	4392	c.4012C>T	c.(4012-4014)Cag>Tag	p.Q1338*	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.Q1338*|APC_ENST00000508376.2_Nonsense_Mutation_p.Q1338*			P25054	APC_HUMAN	adenomatous polyposis coli	1338	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.Q1338*(30)|p.L1337fs*76(4)|p.?(1)|p.K1192fs*3(1)|p.V1326fs*3(1)|p.S1335fs*70(1)|p.L1337>?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAGCAGACTGCAGGGTTCTAG	0.458	Q1338*(SW480_LARGE_INTESTINE)|Q1338*(SW620_LARGE_INTESTINE)	12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	39	Substitution - Nonsense(30)|Deletion - Frameshift(7)|Unknown(1)|Complex(1)	large_intestine(34)|thyroid(1)|biliary_tract(1)|stomach(1)|soft_tissue(1)|skin(1)	5	GRCh37	CM930029	APC	M	rs121913327						57.0	60.0	59.0					5																	112175303		2202	4300	6502	112203202	SO:0001587	stop_gained	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4012C>T	5.37:g.112175303C>T	ENSP00000413133:p.Gln1338*		112203202	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	39	7.909540	0.98557	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	.	.	.	6.03	6.03	0.97812	.	0.226724	0.46145	D	0.000316	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-2.6325	20.1672	0.98154	0.0:1.0:0.0:0.0	.	.	.	.	X	1338	.	.	Q	+	1	0	APC	112203202	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	4.607000	0.61133	2.861000	0.98227	0.655000	0.94253	CAG		0.458	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
ADAMTS19	171019	hgsc.bcm.edu	37	5	129072906	129072906	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr5:129072906A>G	ENST00000274487.4	+	23	3764	c.3619A>G	c.(3619-3621)Agt>Ggt	p.S1207G	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1207						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GCAGCAGAAGAGTTGACCTCT	0.443																																																	0			5											60.0	51.0	54.0					5																	129072906		2203	4300	6503	129100805	SO:0001583	missense	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3619A>G	5.37:g.129072906A>G	ENSP00000274487:p.Ser1207Gly		129100805		Missense_Mutation	SNP	ENST00000274487.4	37	CCDS4146.1	.	.	.	.	.	.	.	.	.	.	A	16.86	3.240555	0.58995	.	.	ENSG00000145808	ENST00000274487	T	0.67345	-0.26	3.99	3.99	0.46301	.	0.077421	0.52532	D	0.000068	T	0.59662	0.2210	N	0.19112	0.55	0.42771	D	0.993832	D	0.53151	0.958	P	0.51550	0.673	T	0.59231	-0.7493	9	.	.	.	.	13.9532	0.64131	1.0:0.0:0.0:0.0	.	1207	Q8TE59	ATS19_HUMAN	G	1207	ENSP00000274487:S1207G	.	S	+	1	0	ADAMTS19	129100805	1.000000	0.71417	1.000000	0.80357	0.701000	0.40568	6.190000	0.72057	2.047000	0.60756	0.455000	0.32223	AGT		0.443	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638	
PCDHA9	9752	hgsc.bcm.edu	37	5	140228183	140228183	+	Missense_Mutation	SNP	G	G	A	rs71588636		TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr5:140228183G>A	ENST00000532602.1	+	1	1136	c.103G>A	c.(103-105)Gtc>Atc	p.V35I	PCDHA9_ENST00000378122.3_Missense_Mutation_p.V35I|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	35	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACTACTCCGTCCCGGAGGA	0.637																																					Melanoma(55;1800 1972 14909)												0			5											59.0	61.0	61.0					5																	140228183		2197	4270	6467	140208367	SO:0001583	missense	9752			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.103G>A	5.37:g.140228183G>A	ENSP00000436042:p.Val35Ile		140208367	O15053|Q2M3S5	Missense_Mutation	SNP	ENST00000532602.1	37	CCDS54920.1	.	.	.	.	.	.	.	.	.	.	G	8.895	0.954905	0.18431	.	.	ENSG00000204961	ENST00000532602;ENST00000378122	T;T	0.35789	1.29;1.29	3.73	2.84	0.33178	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	T	0.28034	0.0691	L	0.41236	1.265	0.21967	N	0.999444	B;B	0.29909	0.261;0.178	B;B	0.31016	0.123;0.025	T	0.17289	-1.0374	9	0.34782	T	0.22	.	7.4976	0.27498	0.2034:0.0:0.7966:0.0	.	35;35	Q9Y5H5;Q9Y5H5-2	PCDA9_HUMAN;.	I	35	ENSP00000436042:V35I;ENSP00000367362:V35I	ENSP00000367362:V35I	V	+	1	0	PCDHA9	140208367	0.002000	0.14202	0.795000	0.32087	0.505000	0.33919	-0.003000	0.12901	0.853000	0.35312	0.591000	0.81541	GTC		0.637	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372896.2	NM_031857	
STK32A	202374	hgsc.bcm.edu	37	5	146703500	146703500	+	Silent	SNP	G	G	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr5:146703500G>A	ENST00000397936.3	+	5	633	c.300G>A	c.(298-300)gtG>gtA	p.V100V	STK32A_ENST00000398523.3_Silent_p.V100V|STK32A_ENST00000541094.1_Silent_p.V100V|STK32A_ENST00000398521.3_Silent_p.V100V	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	100	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATGGTGGTGGACCTCCTGC	0.443																																																	0			5											62.0	66.0	64.0					5																	146703500		2158	4294	6452	146683693	SO:0001819	synonymous_variant	202374				CCDS47299.1, CCDS75351.1	5q32	2008-02-05			ENSG00000169302	ENSG00000169302			28317	protein-coding gene	gene with protein product						12477932	Standard	NM_001112724		Approved	MGC22688, YANK1	uc010jgn.1	Q8WU08	OTTHUMG00000163411	ENST00000397936.3:c.300G>A	5.37:g.146703500G>A			146683693	B3KSY0	Silent	SNP	ENST00000397936.3	37	CCDS47299.1																																																																																				0.443	STK32A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373306.1	NM_145001	
FAM71B	153745	hgsc.bcm.edu	37	5	156593120	156593120	+	Silent	SNP	C	C	T	rs144795715	byFrequency	TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr5:156593120C>T	ENST00000302938.4	-	1	155	c.60G>A	c.(58-60)gcG>gcA	p.A20A		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	20						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGTTTTGAACGCACTCATTG	0.418																																																	0			5						C		1,4405	2.1+/-5.4	0,1,2202	116.0	112.0	113.0		60	2.8	0.8	5	dbSNP_134	113	36,8564	24.6+/-71.5	0,36,4264	no	coding-synonymous	FAM71B	NM_130899.2		0,37,6466	TT,TC,CC		0.4186,0.0227,0.2845		20/606	156593120	37,12969	2203	4300	6503	156525698	SO:0001819	synonymous_variant	153745				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.60G>A	5.37:g.156593120C>T			156525698	Q1EDD9|Q8TC64|Q96LY8	Silent	SNP	ENST00000302938.4	37	CCDS4335.1																																																																																				0.418	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252570.2	NM_130899	
GABRG2	2566	hgsc.bcm.edu	37	5	161524809	161524809	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr5:161524809A>G	ENST00000361925.4	+	4	713	c.493A>G	c.(493-495)Acc>Gcc	p.T165A	GABRG2_ENST00000393933.4_Missense_Mutation_p.T70A|GABRG2_ENST00000414552.2_Missense_Mutation_p.T165A|GABRG2_ENST00000356592.3_Missense_Mutation_p.T165A			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	165					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTGGATCACCACCCCCAACAG	0.423																																																	0			5											98.0	98.0	98.0					5																	161524809		2203	4300	6503	161457387	SO:0001583	missense	2566				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.493A>G	5.37:g.161524809A>G	ENSP00000354651:p.Thr165Ala		161457387	F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	ENST00000361925.4	37	CCDS4358.1	.	.	.	.	.	.	.	.	.	.	A	25.9	4.684448	0.88639	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933;ENST00000522053	T;T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33;-1.33	5.82	5.82	0.92795	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.88822	0.6541	M	0.80028	2.48	0.80722	D	1	D;P;P	0.56035	0.974;0.904;0.883	P;P;P	0.60117	0.869;0.826;0.734	D	0.89711	0.3912	10	0.56958	D	0.05	.	16.19	0.81981	1.0:0.0:0.0:0.0	.	165;165;165	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	A	165;165;165;70;70	ENSP00000349000:T165A;ENSP00000410732:T165A;ENSP00000354651:T165A;ENSP00000377510:T70A;ENSP00000430182:T70A	ENSP00000349000:T165A	T	+	1	0	GABRG2	161457387	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	9.168000	0.94781	2.225000	0.72522	0.460000	0.39030	ACC		0.423	GABRG2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252706.1		
HK3	3101	hgsc.bcm.edu	37	5	176315471	176315471	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr5:176315471G>A	ENST00000292432.5	-	10	1257	c.1166C>T	c.(1165-1167)gCg>gTg	p.A389V		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	389	Hexokinase type-2 1.|Regulatory.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|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)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCACACGGCCGCACAGACGTG	0.657																																																	0			5											20.0	19.0	20.0					5																	176315471		2154	4227	6381	176248077	SO:0001583	missense	84376				CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.1166C>T	5.37:g.176315471G>A	ENSP00000292432:p.Ala389Val		176248077	Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	G	6.373	0.437015	0.12104	.	.	ENSG00000160883	ENST00000292432	D	0.96459	-4.02	5.14	-4.53	0.03462	Hexokinase, C-terminal (1);	1.336330	0.04827	N	0.438132	D	0.89392	0.6702	N	0.22421	0.69	0.09310	N	1	B	0.16166	0.016	B	0.13407	0.009	T	0.78458	-0.2196	10	0.33940	T	0.23	.	0.5431	0.00649	0.3976:0.1726:0.1621:0.2677	.	389	P52790	HXK3_HUMAN	V	389	ENSP00000292432:A389V	ENSP00000292432:A389V	A	-	2	0	HK3	176248077	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-5.160000	0.00145	-0.623000	0.05618	-1.126000	0.01995	GCG		0.657	HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1		
ALOX12	239	hgsc.bcm.edu	37	17	6913446	6913446	+	Splice_Site	SNP	G	G	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr17:6913446G>A	ENST00000251535.6	+	13	1865		c.e13+1		AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000573939.1_Intron|AC027763.2_ENST00000574377.1_5'UTR|RNASEK_ENST00000548577.1_5'Flank|RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000399540.2_Intron|RNASEK_ENST00000402093.1_5'Flank	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase						aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						GCCAGACATGGTGAGAGGGGA	0.547																																																	0			17											39.0	39.0	39.0					17																	6913446		2203	4300	6503	6854170	SO:0001630	splice_region_variant	239			M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.1812+1G>A	17.37:g.6913446G>A			6854170	O95569|Q6ISF8|Q9UQM4	Splice_Site	SNP	ENST00000251535.6	37	CCDS11084.1	.	.	.	.	.	.	.	.	.	.	G	17.59	3.427162	0.62733	.	.	ENSG00000108839	ENST00000251535;ENST00000406228	.	.	.	4.96	4.96	0.65561	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.582	0.61909	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ALOX12	6854170	1.000000	0.71417	1.000000	0.80357	0.739000	0.42172	7.819000	0.86621	2.587000	0.87381	0.460000	0.39030	.		0.547	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219922.2		Intron
LCE4A	199834	hgsc.bcm.edu	37	1	152681689	152681690	+	In_Frame_Ins	INS	-	-	GGCTGCTGTAGCTCTGGC	rs200223098	byFrequency	TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr1:152681689_152681690insGGCTGCTGTAGCTCTGGC	ENST00000368777.1	+	2	394_395	c.138_139insGGCTGCTGTAGCTCTGGC	c.(139-141)ggc>GGCTGCTGTAGCTCTGGCggc	p.47_47G>GCCSSGG	LCE4A_ENST00000335535.3_In_Frame_Ins_p.47_47G>GCCSSGG			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	47	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CCAGCTCTGGGGGCTGTGGTTG	0.579																																																	0			1																																								150948314	SO:0001652	inframe_insertion	199834			BI670517	CCDS1022.1	1q22	2008-02-05	2004-10-11	2004-10-15	ENSG00000187170	ENSG00000187170		"""Late cornified envelopes"""	16613	protein-coding gene	gene with protein product		612618	"""small proline rich-like (epidermal differentiation complex) 4A"""	SPRL4A		11698679	Standard	NM_178356		Approved	LEP8	uc001fak.2	Q5TA78	OTTHUMG00000014394	Exception_encountered	1.37:g.152681689_152681690insGGCTGCTGTAGCTCTGGC	Exception_encountered		150948313	Q14D97	In_Frame_Ins	INS	ENST00000368777.1	37	CCDS1022.1																																																																																				0.579	LCE4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040048.1	NM_178356	
TDRD5	163589	hgsc.bcm.edu	37	1	179603694	179603695	+	Frame_Shift_Ins	INS	-	-	A	rs78052645		TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr1:179603694_179603695insA	ENST00000367614.1	+	8	1588_1589	c.1229_1230insA	c.(1228-1233)tcaaaafs	p.SK410fs	TDRD5_ENST00000444136.1_Frame_Shift_Ins_p.SK410fs|TDRD5_ENST00000294848.8_Frame_Shift_Ins_p.SK410fs	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	410					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AATTGCCCTTCAAAAAAACAAA	0.421																																																	0			1																																								177870318	SO:0001589	frameshift_variant	163589			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.1236dupA	1.37:g.179603701_179603701dupA	ENSP00000356586:p.Ser410fs		177870317	A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Frame_Shift_Ins	INS	ENST00000367614.1	37	CCDS1332.1																																																																																				0.421	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533	
PRG4	10216	hgsc.bcm.edu	37	1	186276284	186276286	+	In_Frame_Del	DEL	CTC	CTC	-	rs200031345|rs145095882|rs143141440	byFrequency	TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	CTC	CTC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr1:186276284_186276286delCTC	ENST00000445192.2	+	7	1478_1480	c.1433_1435delCTC	c.(1432-1437)actccc>acc	p.P479del	PRG4_ENST00000367483.4_In_Frame_Del_p.P438del|PRG4_ENST00000367485.4_In_Frame_Del_p.P386del|PRG4_ENST00000367486.3_In_Frame_Del_p.P436del|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	479	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.P479delP(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GCACCCACCACTCCCAAAGAGCC	0.65																																																	1	Deletion - In frame(1)	large_intestine(1)	1							,,,	348,3912		14,320,1796					,,,	-1.4	0.0			89	1023,7215		71,881,3167	no	coding,coding,coding,coding	PRG4	NM_005807.3,NM_001127710.1,NM_001127709.1,NM_001127708.1	,,,	85,1201,4963	A1A1,A1R,RR		12.4181,8.169,10.9698	,,,	,,,		1371,11127				184542909	SO:0001651	inframe_deletion	23572			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1433_1435delCTC	1.37:g.186276284_186276286delCTC	ENSP00000399679:p.Pro479del		184542907	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	In_Frame_Del	DEL	ENST00000445192.2	37	CCDS1369.1																																																																																				0.650	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807	
SPATA3	130560	hgsc.bcm.edu	37	2	231861033	231861059	+	In_Frame_Del	DEL	CAGCAGCCTAGCCCTGAATCCACACCA	CAGCAGCCTAGCCCTGAATCCACACCA	-	rs13005918|rs72362780	byFrequency	TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	CAGCAGCCTAGCCCTGAATCCACACCA	CAGCAGCCTAGCCCTGAATCCACACCA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr2:231861033_231861059delCAGCAGCCTAGCCCTGAATCCACACCA	ENST00000452881.1	+	1	193_219	c.85_111delCAGCAGCCTAGCCCTGAATCCACACCA	c.(85-111)cagcagcctagccctgaatccacaccadel	p.QQPSPESTP47del	AC105344.2_ENST00000414876.1_lincRNA|SPATA3_ENST00000424440.1_In_Frame_Del_p.QQPSPESTP47del|SPATA3_ENST00000455816.1_In_Frame_Del_p.QQPSPESTP47del|SPATA3_ENST00000433428.2_In_Frame_Del_p.QQPSPESTP47del			Q8NHX4	SPTA3_HUMAN	spermatogenesis associated 3	47			Missing.							endometrium(2)|lung(1)	3						TTCCACCTCTCAGCAGCCTAGCCCTGAATCCACACCACAGCAGCCTA	0.564																																																	0			2								924,1842		222,480,681						-8.0	0.0		dbSNP_130	187	2754,2350		871,1012,669	no	coding	SPATA3	NM_139073.3		1093,1492,1350	A1A1,A1R,RR		46.0423,33.4056,46.7344				3678,4192				231569303	SO:0001651	inframe_deletion	130560			AY032925	CCDS2481.1	2q37.1	2008-02-05			ENSG00000173699	ENSG00000173699			17884	protein-coding gene	gene with protein product							Standard	NM_139073		Approved	TSARG1	uc010zmd.2	Q8NHX4	OTTHUMG00000133221	ENST00000452881.1:c.85_111delCAGCAGCCTAGCCCTGAATCCACACCA	2.37:g.231861033_231861059delCAGCAGCCTAGCCCTGAATCCACACCA	ENSP00000388895:p.Gln47_Pro55del		231569277	Q86WX5|Q8N9Y6	In_Frame_Del	DEL	ENST00000452881.1	37	CCDS2481.1																																																																																				0.564	SPATA3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256956.2	NM_139073	
ACAA1	30	hgsc.bcm.edu	37	3	38164071	38164073	+	IGR	DEL	ATG	ATG	-	rs398102321|rs144512522|rs61108705|rs199512729	byFrequency	TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	ATG	ATG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr3:38164071_38164073delATG	ENST00000333167.8	-	0	1785				Y_RNA_ENST00000365095.1_RNA|ACAA1_ENST00000480865.1_5'Flank|DLEC1_ENST00000346219.3_In_Frame_Del_p.D1772del|DLEC1_ENST00000452631.2_3'UTR|DLEC1_ENST00000308059.6_3'UTR	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1						alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)	p.D1772delD(1)		endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		CTAGGCCCTCATGATATGTCCTC	0.527														605	0.120807	0.2549	0.0865	5008	,	,		19346	0.0248		0.1282	False		,,,				2504	0.0552																1	Deletion - In frame(1)	kidney(1)	3							,	725,2845		143,439,1203					,	0.7	0.0		dbSNP_129	16	858,6590		127,604,2993	no	coding,utr-3	DLEC1	NM_007337.2,NM_007335.2	,	270,1043,4196	A1A1,A1R,RR		11.5199,20.3081,14.3674	,	,		1583,9435				38139077	SO:0001628	intergenic_variant	9940			X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"""peroxisomal 3-oxoacyl-Coenzyme A thiolase"""	604054	"""acetyl-Coenzyme A acyltransferase 1"""				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087		3.37:g.38164071_38164073delATG			38139075	G5E935|Q96CA6	In_Frame_Del	DEL	ENST00000333167.8	37	CCDS2673.1																																																																																				0.527	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607	
ZNF717	100131827	hgsc.bcm.edu	37	3	75787812	75787813	+	Frame_Shift_Ins	INS	-	-	T	rs138918118|rs143242394		TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr3:75787812_75787813insT	ENST00000478296.1	-	4	1087_1088	c.811_812insA	c.(811-813)agcfs	p.S271fs	ZNF717_ENST00000422325.1_Frame_Shift_Ins_p.S321fs|ZNF717_ENST00000477374.1_Intron|MIR4273_ENST00000582824.1_RNA|ZNF717_ENST00000491507.1_Intron|ZNF717_ENST00000400845.3_Frame_Shift_Ins_p.S314fs			Q9BY31	ZN717_HUMAN	zinc finger protein 717	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)			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						GGACTTATAGCTGAACAATTTT	0.426																																																	0			3								368,754		140,88,333						-3.2	0.0		dbSNP_130	5	819,1629		327,165,732	no	frameshift	ZNF717	NM_001128223.1		467,253,1065	A1A1,A1R,RR		33.4559,32.7986,33.2493				1187,2383				75870503	SO:0001589	frameshift_variant	100131827			AF226994		3p12.3	2013-01-08			ENSG00000227124	ENSG00000227124		"""Zinc fingers, C2H2-type"", ""-"""	29448	protein-coding gene	gene with protein product			"""zinc finger protein 838"""	ZNF838			Standard	NM_001128223		Approved	X17	uc011bgi.2	Q9BY31	OTTHUMG00000158965	ENST00000478296.1:c.812dupA	3.37:g.75787813_75787813dupT	ENSP00000419377:p.Ser271fs		75870502		Frame_Shift_Ins	INS	ENST00000478296.1	37																																																																																					0.426	ZNF717-002	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000352764.2	NM_001128223	
OR5K4	403278	hgsc.bcm.edu	37	3	98073592	98073592	+	Frame_Shift_Del	DEL	A	A	-	rs398102322|rs11288615	byFrequency	TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr3:98073592delA	ENST00000354924.2	+	1	895	c.895delA	c.(895-897)aaafs	p.K300fs	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						AAATGTTCTTAAAAAAATTAT	0.254													AAAAAAA|AAAAAAA|AAAAAA|deletion	1683	0.336062	0.2352	0.3588	5008	,	,		16327	0.1319		0.5875	False		,,,				2504	0.408																0			3											68.0	56.0	60.0					3																	98073592		2111	3952	6063	99556282	SO:0001589	frameshift_variant	403278				CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"""GPCR / Class A : Olfactory receptors"""	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.895delA	3.37:g.98073592delA	ENSP00000347003:p.Lys300fs		99556282		Frame_Shift_Del	DEL	ENST00000354924.2	37	CCDS33802.1																																																																																				0.254	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1		
ADAM29	11086	hgsc.bcm.edu	37	4	175899072	175899098	+	In_Frame_Del	DEL	TGACACCCTCCCAGAGGCAACCTCAGT	TGACACCCTCCCAGAGGCAACCTCAGT	-	rs140568401|rs141115697|rs61744599|rs137958266|rs538790099|rs199709256|rs146933346|rs151310201	byFrequency	TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	TGACACCCTCCCAGAGGCAACCTCAGT	TGACACCCTCCCAGAGGCAACCTCAGT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr4:175899072_175899098delTGACACCCTCCCAGAGGCAACCTCAGT	ENST00000359240.3	+	5	3066_3092	c.2396_2422delTGACACCCTCCCAGAGGCAACCTCAGT	c.(2395-2424)gtgacaccctcccagaggcaacctcagttg>gtg	p.TPSQRQPQL800del	ADAM29_ENST00000445694.1_In_Frame_Del_p.TPSQRQPQL800del|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_In_Frame_Del_p.TPSQRQPQL800del|ADAM29_ENST00000404450.4_In_Frame_Del_p.TPSQRQPQL800del	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	800	9 X 9 AA approximate repeats.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Q803*(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CAACCTCCTGTGACACCCTCCCAGAGGCAACCTCAGTTGATGCCTTC	0.577																																					Ovarian(140;1727 1835 21805 25838 41440)												1	Substitution - Nonsense(1)	lung(1)	4																																								176135673	SO:0001651	inframe_deletion	11086			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2396_2422delTGACACCCTCCCAGAGGCAACCTCAGT	4.37:g.175899072_175899098delTGACACCCTCCCAGAGGCAACCTCAGT	ENSP00000352177:p.Thr800_Leu808del		176135647	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	In_Frame_Del	DEL	ENST00000359240.3	37	CCDS3823.1																																																																																				0.577	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding			
ART5	116969	hgsc.bcm.edu	37	11	3661585	3661586	+	In_Frame_Ins	INS	-	-	TGG	rs80248801|rs3062849|rs397784566|rs33994425|rs72515796	byFrequency	TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr11:3661585_3661586insTGG	ENST00000397068.3	-	2	465_466	c.73_74insCCA	c.(73-75)atc>aCCAtc	p.24_25insT	ART5_ENST00000359918.4_In_Frame_Ins_p.24_25insT|TRPC2_ENST00000526541.1_RNA|ART5_ENST00000397067.3_In_Frame_Ins_p.24_25insT	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	24			P -> PT (in dbSNP:rs72515796). {ECO:0000269|PubMed:12070318, ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.4}.		protein ADP-ribosylation (GO:0006471)	extracellular region (GO:0005576)|membrane (GO:0016020)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ nucleosidase activity (GO:0003953)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGGGCAGGATGGGAACAGCC	0.569														4845	0.967452	0.8828	0.9914	5008	,	,		17488	1.0		0.999	False		,,,				2504	0.999																0			11							,	3654,406		1675,304,51					,	5.0	1.0		dbSNP_102	24	7782,12		3887,8,2	no	coding,coding	ART5	NM_053017.3,NM_001079536.1	,	5562,312,53	A1A1,A1R,RR		0.154,10.0,3.5262	,	,		11436,418				3618162	SO:0001652	inframe_insertion	116969			Y16835	CCDS7743.1, CCDS73242.1	11p15.4	2008-02-05			ENSG00000167311	ENSG00000167311			24049	protein-coding gene	gene with protein product		610625				11587854, 10448534	Standard	NM_001079536		Approved		uc001lyb.1	Q96L15	OTTHUMG00000011842	ENST00000397068.3:c.71_73dupCCA	11.37:g.3661586_3661588dupTGG	ENSP00000380258:p.Pro24_Ile25insThr		3618161	C9IYG7|Q6UX84|Q86W02	In_Frame_Ins	INS	ENST00000397068.3	37	CCDS7743.1																																																																																				0.569	ART5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032760.2	NM_053017	
ESRRA	2101	hgsc.bcm.edu	37	11	64083296	64083298	+	In_Frame_Del	DEL	GGG	GGG	-			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	GGG	GGG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr11:64083296_64083298delGGG	ENST00000405666.1	+	7	1364_1366	c.1130_1132delGGG	c.(1129-1134)cgggcg>ccg	p.377_378RA>P	ESRRA_ENST00000000442.6_In_Frame_Del_p.377_378RA>P|PRDX5_ENST00000265462.4_5'Flank|PRDX5_ENST00000352435.4_5'Flank|PRDX5_ENST00000347941.4_5'Flank|ESRRA_ENST00000406310.1_In_Frame_Del_p.376_377RA>P	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	377	Ligand binding domain.				cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|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 proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R377_A378>P(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						GAGCGGCGGCGGGCGGGCAGGCT	0.69																																																	2	Complex - deletion inframe(2)	lung(2)	11								51,3601		5,41,1780						2.3	1.0			19	264,7542		4,256,3643	no	coding	ESRRA	NM_004451.3		9,297,5423	A1A1,A1R,RR		3.382,1.3965,2.7492				315,11143				63839874	SO:0001651	inframe_deletion	2101			X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"""Nuclear hormone receptors"""	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.1130_1132delGGG	11.37:g.64083296_64083298delGGG	ENSP00000384851:p.Arg377_Ala378delinsPro		63839872	Q14514	In_Frame_Del	DEL	ENST00000405666.1	37	CCDS41667.1																																																																																				0.690	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319304.1	NM_004451	
CASP5	838	hgsc.bcm.edu	37	11	104879687	104879687	+	Frame_Shift_Del	DEL	T	T	-	rs372526393		TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr11:104879687delT	ENST00000260315.3	-	2	27	c.28delA	c.(28-30)aggfs	p.R11fs	CASP5_ENST00000531367.1_Intron|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000393139.2_5'UTR|CASP5_ENST00000444749.2_Intron|CASP5_ENST00000526056.1_Frame_Shift_Del_p.R24fs|CASP5_ENST00000393141.2_Frame_Shift_Del_p.R24fs			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			11							,,,	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	104384897	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		104384897	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	
OR8D4	338662	hgsc.bcm.edu	37	11	123777441	123777442	+	Frame_Shift_Ins	INS	-	-	T	rs79561639|rs74740497|rs201238608	byFrequency	TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr11:123777441_123777442insT	ENST00000321355.2	+	1	333_334	c.303_304insT	c.(304-306)tttfs	p.F102fs		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGATTCAGCTGTTTTTTTTCTG	0.436													TTTTTTTT|TTTTTTTT|TTTTTTTTT|insertion	116	0.0231629	0.084	0.0058	5008	,	,		21496	0.0		0.001	False		,,,				2504	0.0																0			11								222,0,4042		5,0,212,0,0,1915						-6.5	0.6		dbSNP_131	230	2,2,8250		0,0,2,0,2,4123	no	codingComplex	OR8D4	NM_001005197.1		5,0,214,0,2,6038	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0485,5.2064,1.8054				224,2,12292				123282652	SO:0001589	frameshift_variant	338662			AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.311dupT	11.37:g.123777449_123777449dupT	ENSP00000325381:p.Phe102fs		123282651	Q6IFE9	Frame_Shift_Ins	INS	ENST00000321355.2	37	CCDS31698.1																																																																																				0.436	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197	
OR6C76	390326	hgsc.bcm.edu	37	12	55820959	55820959	+	Frame_Shift_Del	DEL	A	A	-	rs397719965|rs57387180		TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr12:55820959delA	ENST00000328314.3	+	1	922	c.922delA	c.(922-924)aaafs	p.K311fs		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GATTTCCCACAAAAAAAAAAA	0.338																																																	0			12											19.0	20.0	19.0					12																	55820959		2110	4120	6230	54107226	SO:0001589	frameshift_variant	390326				CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"""GPCR / Class A : Olfactory receptors"""	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.922delA	12.37:g.55820959delA	ENSP00000328402:p.Lys311fs		54107226		Frame_Shift_Del	DEL	ENST00000328314.3	37	CCDS31823.1																																																																																				0.338	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406675.1	NM_001005183	
ORAI1	84876	hgsc.bcm.edu	37	12	122064774	122064779	+	In_Frame_Del	DEL	CCGCCA	CCGCCA	-	rs141919534|rs531278468		TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	CCGCCA	CCGCCA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr12:122064774_122064779delCCGCCA	ENST00000330079.7	+	1	320_325	c.127_132delCCGCCA	c.(127-132)ccgccadel	p.PP47del		NM_032790.3	NP_116179	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	0	Pro-rich.				blood coagulation (GO:0007596)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|regulation of calcium ion transport (GO:0051924)|store-operated calcium entry (GO:0002115)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|store-operated calcium channel activity (GO:0015279)	p.P43_P44delPP(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		cccgggggccccgccaccgccaccgc	0.748														5007	0.9998	1.0	1.0	5008	,	,		5795	1.0		1.0	False		,,,				2504	0.999																1	Deletion - In frame(1)	breast(1)	12																																								120549162	SO:0001651	inframe_deletion	84876			AK027372		12q24.31	2014-09-17	2007-08-14	2007-08-14	ENSG00000182500	ENSG00000276045		"""ORAI calcium release-activated calcium modulators"""	25896	protein-coding gene	gene with protein product	"""calcium release-activated calcium modulator 1"""	610277	"""transmembrane protein 142A"""	TMEM142A		16582901	Standard	NM_032790		Approved	FLJ14466, CRACM1	uc021rff.1	Q96D31		ENST00000330079.7:c.127_132delCCGCCA	12.37:g.122064780_122064785delCCGCCA	ENSP00000328216:p.Pro47_Pro48del		120549157	Q3MHV3|Q6DHX2|Q96BP7|Q96K71	In_Frame_Del	DEL	ENST00000330079.7	37	CCDS41851.1																																																																																				0.748	ORAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402151.1	NM_032790	
WASF3	10810	hgsc.bcm.edu	37	13	27241676	27241677	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr13:27241676_27241677insA	ENST00000335327.5	+	5	469_470	c.291_292insA	c.(292-294)aaafs	p.K98fs	WASF3_ENST00000361042.4_Frame_Shift_Ins_p.K98fs|WASF3_ENST00000496788.1_3'UTR	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	98					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		ATATCAACATGAAAAAAGCTTT	0.351																																																	0			13																																								26139677	SO:0001589	frameshift_variant	10810			AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.297dupA	13.37:g.27241682_27241682dupA	ENSP00000335055:p.Lys98fs		26139676	O94974|Q86VQ2	Frame_Shift_Ins	INS	ENST00000335327.5	37	CCDS9318.1																																																																																				0.351	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1		
HOMEZ	57594	hgsc.bcm.edu	37	14	23744827	23744829	+	In_Frame_Del	DEL	TCC	TCC	-	rs79723196|rs35076736|rs67447855	byFrequency	TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	TCC	TCC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr14:23744827_23744829delTCC	ENST00000357460.5	-	2	1772_1774	c.1608_1610delGGA	c.(1606-1611)gaggaa>gaa	p.536_537EE>E	HOMEZ_ENST00000431326.2_In_Frame_Del_p.538_539EE>E|HOMEZ_ENST00000561013.1_In_Frame_Del_p.538_539EE>E	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	536	Glu-rich.|Poly-Asp.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		atcatcatcttcctcctcctcct	0.483														1763	0.352037	0.3949	0.3386	5008	,	,		20301	0.1974		0.3738	False		,,,				2504	0.4407																0			14																																								22814669	SO:0001651	inframe_deletion	57594			AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"""Homeoboxes / ZF class"""	20164	protein-coding gene	gene with protein product		608119	"""KIAA1443"""	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.1608_1610delGGA	14.37:g.23744836_23744838delTCC	ENSP00000350049:p.Glu537del		22814667	A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	In_Frame_Del	DEL	ENST00000357460.5	37	CCDS45085.1																																																																																				0.483	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834	
OR1E2	8388	hgsc.bcm.edu	37	17	3337127	3337131	+	Frame_Shift_Del	DEL	TCCCA	TCCCA	-			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	TCCCA	TCCCA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr17:3337127_3337131delTCCCA	ENST00000248384.1	-	1	4_8	c.5_9delTGGGA	c.(4-9)atgggafs	p.MG2fs		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	2					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			endometrium(3)|large_intestine(3)|lung(3)	9						TTTGATTTTGTCCCATCATGCTCTG	0.429																																																	0			17																																								3283881	SO:0001589	frameshift_variant	8388			U04686	CCDS11026.1	17p13.3	2012-08-09			ENSG00000127780	ENSG00000127780		"""GPCR / Class A : Olfactory receptors"""	8190	protein-coding gene	gene with protein product				OR1E4		8004088, 9500546	Standard	NM_003554		Approved	OR17-93, OR17-135	uc010vre.2	P47887	OTTHUMG00000090651	ENST00000248384.1:c.5_9delTGGGA	17.37:g.3337127_3337131delTCCCA	ENSP00000248384:p.Met2fs		3283877	O43877|O95632|Q0VAD5|Q0VAD6|Q9UL13	Frame_Shift_Del	DEL	ENST00000248384.1	37	CCDS11026.1																																																																																				0.429	OR1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207311.1		
KRTAP4-1	85285	hgsc.bcm.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929|rs543483191|rs79048996|rs1985673|rs2320229|rs483893|rs572749|rs543006020|rs71155126|rs554407371|rs2320230	byFrequency	TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgcccactctgctgtcagaccacctgccaccccagctgtggtatgtccagctgctgccgt>cgt	p.85_104RPLCCQTTCHPSCGMSSCCR>R				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646																																																	4	Deletion - In frame(4)	upper_aerodigestive_tract(2)|prostate(2)	17																																								36594378	SO:0001651	inframe_deletion	85285			AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	17.37:g.39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENSP00000381489:p.Arg85_Cys103del		36594322	A8MWS7|Q3SYF2	Frame_Shift_Del	DEL	ENST00000398472.1	37																																																																																					0.646	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1	NM_033060	
DEFB126	81623	hgsc.bcm.edu	37	20	126311	126312	+	Frame_Shift_Del	DEL	CC	CC	-	rs376364807|rs11467417|rs386393058		TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	CC	CC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr20:126311_126312delCC	ENST00000382398.3	+	2	574_575	c.314_315delCC	c.(313-315)accfs	p.T105fs	DEFB126_ENST00000542572.1_3'UTR	NM_030931.3	NP_112193.1	Q9BYW3	DB126_HUMAN	defensin, beta 126	105					defense response to bacterium (GO:0042742)	cell surface (GO:0009986)|extracellular region (GO:0005576)|glycocalyx (GO:0030112)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			ATGGCTCCTACCCCCGTTTCTC	0.455																																																	0			20								2386,1878		678,1030,424						-4.7	0.0		dbSNP_120	113	4702,3552		1341,2020,766	no	frameshift	DEFB126	NM_030931.2		2019,3050,1190	A1A1,A1R,RR		43.0337,44.0432,43.3775				7088,5430				74312	SO:0001589	frameshift_variant	81623				CCDS12990.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125788	ENSG00000125788		"""Defensins, beta"""	15900	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 8"""	C20orf8		11854508	Standard	NM_030931		Approved	bA530N10.1, DEFB-26	uc002wcx.3	Q9BYW3	OTTHUMG00000031616	ENST00000382398.3:c.314_315delCC	20.37:g.126313_126314delCC	ENSP00000371835:p.Thr105fs		74311	Q562G3|Q9H1M5	Frame_Shift_Del	DEL	ENST00000382398.3	37	CCDS12990.1																																																																																				0.455	DEFB126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077428.2	NM_030931	
LCE4A	199834	hgsc.bcm.edu	37	1	152681689	152681690	+	In_Frame_Ins	INS	-	-	GGCTGCTGTAGCTCTGGC	rs200223098	byFrequency	TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr1:152681689_152681690insGGCTGCTGTAGCTCTGGC	ENST00000368777.1	+	2	394_395	c.138_139insGGCTGCTGTAGCTCTGGC	c.(139-141)ggc>GGCTGCTGTAGCTCTGGCggc	p.47_47G>GCCSSGG	LCE4A_ENST00000335535.3_In_Frame_Ins_p.47_47G>GCCSSGG			Q5TA78	LCE4A_HUMAN	late cornified envelope 4A	47	Cys-rich.				keratinization (GO:0031424)					endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.116)			CCAGCTCTGGGGGCTGTGGTTG	0.579																																																	0			1																																								150948314	SO:0001652	inframe_insertion	199834			BI670517	CCDS1022.1	1q22	2008-02-05	2004-10-11	2004-10-15	ENSG00000187170	ENSG00000187170		"""Late cornified envelopes"""	16613	protein-coding gene	gene with protein product		612618	"""small proline rich-like (epidermal differentiation complex) 4A"""	SPRL4A		11698679	Standard	NM_178356		Approved	LEP8	uc001fak.2	Q5TA78	OTTHUMG00000014394	Exception_encountered	1.37:g.152681689_152681690insGGCTGCTGTAGCTCTGGC	Exception_encountered		150948313	Q14D97	In_Frame_Ins	INS	ENST00000368777.1	37	CCDS1022.1																																																																																				0.579	LCE4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040048.1	NM_178356	
TDRD5	163589	hgsc.bcm.edu	37	1	179603694	179603695	+	Frame_Shift_Ins	INS	-	-	A	rs78052645		TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr1:179603694_179603695insA	ENST00000367614.1	+	8	1588_1589	c.1229_1230insA	c.(1228-1233)tcaaaafs	p.SK410fs	TDRD5_ENST00000444136.1_Frame_Shift_Ins_p.SK410fs|TDRD5_ENST00000294848.8_Frame_Shift_Ins_p.SK410fs	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	410					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						AATTGCCCTTCAAAAAAACAAA	0.421																																																	0			1																																								177870318	SO:0001589	frameshift_variant	163589			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.1236dupA	1.37:g.179603701_179603701dupA	ENSP00000356586:p.Ser410fs		177870317	A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Frame_Shift_Ins	INS	ENST00000367614.1	37	CCDS1332.1																																																																																				0.421	TDRD5-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000085295.1	NM_173533	
PRG4	10216	hgsc.bcm.edu	37	1	186276284	186276286	+	In_Frame_Del	DEL	CTC	CTC	-	rs200031345|rs145095882|rs143141440	byFrequency	TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	CTC	CTC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr1:186276284_186276286delCTC	ENST00000445192.2	+	7	1478_1480	c.1433_1435delCTC	c.(1432-1437)actccc>acc	p.P479del	PRG4_ENST00000367483.4_In_Frame_Del_p.P438del|PRG4_ENST00000367485.4_In_Frame_Del_p.P386del|PRG4_ENST00000367486.3_In_Frame_Del_p.P436del|PRG4_ENST00000367484.3_Intron	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	479	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.P479delP(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GCACCCACCACTCCCAAAGAGCC	0.65																																																	1	Deletion - In frame(1)	large_intestine(1)	1							,,,	348,3912		14,320,1796					,,,	-1.4	0.0			89	1023,7215		71,881,3167	no	coding,coding,coding,coding	PRG4	NM_005807.3,NM_001127710.1,NM_001127709.1,NM_001127708.1	,,,	85,1201,4963	A1A1,A1R,RR		12.4181,8.169,10.9698	,,,	,,,		1371,11127				184542909	SO:0001651	inframe_deletion	23572			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1433_1435delCTC	1.37:g.186276284_186276286delCTC	ENSP00000399679:p.Pro479del		184542907	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	In_Frame_Del	DEL	ENST00000445192.2	37	CCDS1369.1																																																																																				0.650	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807	
SPATA3	130560	hgsc.bcm.edu	37	2	231861033	231861059	+	In_Frame_Del	DEL	CAGCAGCCTAGCCCTGAATCCACACCA	CAGCAGCCTAGCCCTGAATCCACACCA	-	rs13005918|rs72362780	byFrequency	TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	CAGCAGCCTAGCCCTGAATCCACACCA	CAGCAGCCTAGCCCTGAATCCACACCA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr2:231861033_231861059delCAGCAGCCTAGCCCTGAATCCACACCA	ENST00000452881.1	+	1	193_219	c.85_111delCAGCAGCCTAGCCCTGAATCCACACCA	c.(85-111)cagcagcctagccctgaatccacaccadel	p.QQPSPESTP47del	AC105344.2_ENST00000414876.1_lincRNA|SPATA3_ENST00000424440.1_In_Frame_Del_p.QQPSPESTP47del|SPATA3_ENST00000455816.1_In_Frame_Del_p.QQPSPESTP47del|SPATA3_ENST00000433428.2_In_Frame_Del_p.QQPSPESTP47del			Q8NHX4	SPTA3_HUMAN	spermatogenesis associated 3	47			Missing.							endometrium(2)|lung(1)	3						TTCCACCTCTCAGCAGCCTAGCCCTGAATCCACACCACAGCAGCCTA	0.564																																																	0			2								924,1842		222,480,681						-8.0	0.0		dbSNP_130	187	2754,2350		871,1012,669	no	coding	SPATA3	NM_139073.3		1093,1492,1350	A1A1,A1R,RR		46.0423,33.4056,46.7344				3678,4192				231569303	SO:0001651	inframe_deletion	130560			AY032925	CCDS2481.1	2q37.1	2008-02-05			ENSG00000173699	ENSG00000173699			17884	protein-coding gene	gene with protein product							Standard	NM_139073		Approved	TSARG1	uc010zmd.2	Q8NHX4	OTTHUMG00000133221	ENST00000452881.1:c.85_111delCAGCAGCCTAGCCCTGAATCCACACCA	2.37:g.231861033_231861059delCAGCAGCCTAGCCCTGAATCCACACCA	ENSP00000388895:p.Gln47_Pro55del		231569277	Q86WX5|Q8N9Y6	In_Frame_Del	DEL	ENST00000452881.1	37	CCDS2481.1																																																																																				0.564	SPATA3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000256956.2	NM_139073	
ACAA1	30	hgsc.bcm.edu	37	3	38164071	38164073	+	IGR	DEL	ATG	ATG	-	rs398102321|rs144512522|rs61108705|rs199512729	byFrequency	TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	ATG	ATG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr3:38164071_38164073delATG	ENST00000333167.8	-	0	1785				Y_RNA_ENST00000365095.1_RNA|ACAA1_ENST00000480865.1_5'Flank|DLEC1_ENST00000346219.3_In_Frame_Del_p.D1772del|DLEC1_ENST00000452631.2_3'UTR|DLEC1_ENST00000308059.6_3'UTR	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1						alpha-linolenic acid metabolic process (GO:0036109)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid metabolic process (GO:0000038)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acetyl-CoA C-acyltransferase activity (GO:0003988)|palmitoyl-CoA oxidase activity (GO:0016401)	p.D1772delD(1)		endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		CTAGGCCCTCATGATATGTCCTC	0.527														605	0.120807	0.2549	0.0865	5008	,	,		19346	0.0248		0.1282	False		,,,				2504	0.0552																1	Deletion - In frame(1)	kidney(1)	3							,	725,2845		143,439,1203					,	0.7	0.0		dbSNP_129	16	858,6590		127,604,2993	no	coding,utr-3	DLEC1	NM_007337.2,NM_007335.2	,	270,1043,4196	A1A1,A1R,RR		11.5199,20.3081,14.3674	,	,		1583,9435				38139077	SO:0001628	intergenic_variant	9940			X14813	CCDS2673.1, CCDS46794.1	3p22.2	2012-05-16	2010-04-30		ENSG00000060971	ENSG00000060971	2.3.1.16		82	protein-coding gene	gene with protein product	"""peroxisomal 3-oxoacyl-Coenzyme A thiolase"""	604054	"""acetyl-Coenzyme A acyltransferase 1"""				Standard	NM_001607		Approved		uc003cht.3	P09110	OTTHUMG00000131087		3.37:g.38164071_38164073delATG			38139075	G5E935|Q96CA6	In_Frame_Del	DEL	ENST00000333167.8	37	CCDS2673.1																																																																																				0.527	ACAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342980.1	NM_001607	
ZNF717	100131827	hgsc.bcm.edu	37	3	75787812	75787813	+	Frame_Shift_Ins	INS	-	-	T	rs138918118|rs143242394		TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr3:75787812_75787813insT	ENST00000478296.1	-	4	1087_1088	c.811_812insA	c.(811-813)agcfs	p.S271fs	ZNF717_ENST00000422325.1_Frame_Shift_Ins_p.S321fs|ZNF717_ENST00000477374.1_Intron|MIR4273_ENST00000582824.1_RNA|ZNF717_ENST00000491507.1_Intron|ZNF717_ENST00000400845.3_Frame_Shift_Ins_p.S314fs			Q9BY31	ZN717_HUMAN	zinc finger protein 717	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)			autonomic_ganglia(6)|endometrium(3)|lung(2)|ovary(1)|stomach(7)	19						GGACTTATAGCTGAACAATTTT	0.426																																																	0			3								368,754		140,88,333						-3.2	0.0		dbSNP_130	5	819,1629		327,165,732	no	frameshift	ZNF717	NM_001128223.1		467,253,1065	A1A1,A1R,RR		33.4559,32.7986,33.2493				1187,2383				75870503	SO:0001589	frameshift_variant	100131827			AF226994		3p12.3	2013-01-08			ENSG00000227124	ENSG00000227124		"""Zinc fingers, C2H2-type"", ""-"""	29448	protein-coding gene	gene with protein product			"""zinc finger protein 838"""	ZNF838			Standard	NM_001128223		Approved	X17	uc011bgi.2	Q9BY31	OTTHUMG00000158965	ENST00000478296.1:c.812dupA	3.37:g.75787813_75787813dupT	ENSP00000419377:p.Ser271fs		75870502		Frame_Shift_Ins	INS	ENST00000478296.1	37																																																																																					0.426	ZNF717-002	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000352764.2	NM_001128223	
OR5K4	403278	hgsc.bcm.edu	37	3	98073592	98073592	+	Frame_Shift_Del	DEL	A	A	-	rs398102322|rs11288615	byFrequency	TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr3:98073592delA	ENST00000354924.2	+	1	895	c.895delA	c.(895-897)aaafs	p.K300fs	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	300						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						AAATGTTCTTAAAAAAATTAT	0.254													AAAAAAA|AAAAAAA|AAAAAA|deletion	1683	0.336062	0.2352	0.3588	5008	,	,		16327	0.1319		0.5875	False		,,,				2504	0.408																0			3											68.0	56.0	60.0					3																	98073592		2111	3952	6063	99556282	SO:0001589	frameshift_variant	403278				CCDS33802.1	3q11.2	2013-09-23			ENSG00000196098	ENSG00000196098		"""GPCR / Class A : Olfactory receptors"""	31291	protein-coding gene	gene with protein product							Standard	NM_001005517		Approved		uc011bgv.2	A6NMS3	OTTHUMG00000160081	ENST00000354924.2:c.895delA	3.37:g.98073592delA	ENSP00000347003:p.Lys300fs		99556282		Frame_Shift_Del	DEL	ENST00000354924.2	37	CCDS33802.1																																																																																				0.254	OR5K4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359114.1		
ADAM29	11086	hgsc.bcm.edu	37	4	175899072	175899098	+	In_Frame_Del	DEL	TGACACCCTCCCAGAGGCAACCTCAGT	TGACACCCTCCCAGAGGCAACCTCAGT	-	rs140568401|rs141115697|rs61744599|rs137958266|rs538790099|rs199709256|rs146933346|rs151310201	byFrequency	TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	TGACACCCTCCCAGAGGCAACCTCAGT	TGACACCCTCCCAGAGGCAACCTCAGT					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr4:175899072_175899098delTGACACCCTCCCAGAGGCAACCTCAGT	ENST00000359240.3	+	5	3066_3092	c.2396_2422delTGACACCCTCCCAGAGGCAACCTCAGT	c.(2395-2424)gtgacaccctcccagaggcaacctcagttg>gtg	p.TPSQRQPQL800del	ADAM29_ENST00000445694.1_In_Frame_Del_p.TPSQRQPQL800del|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000514159.1_In_Frame_Del_p.TPSQRQPQL800del|ADAM29_ENST00000404450.4_In_Frame_Del_p.TPSQRQPQL800del	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	800	9 X 9 AA approximate repeats.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Q803*(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CAACCTCCTGTGACACCCTCCCAGAGGCAACCTCAGTTGATGCCTTC	0.577																																					Ovarian(140;1727 1835 21805 25838 41440)												1	Substitution - Nonsense(1)	lung(1)	4																																								176135673	SO:0001651	inframe_deletion	11086			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2396_2422delTGACACCCTCCCAGAGGCAACCTCAGT	4.37:g.175899072_175899098delTGACACCCTCCCAGAGGCAACCTCAGT	ENSP00000352177:p.Thr800_Leu808del		176135647	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	In_Frame_Del	DEL	ENST00000359240.3	37	CCDS3823.1																																																																																				0.577	ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding			
ART5	116969	hgsc.bcm.edu	37	11	3661585	3661586	+	In_Frame_Ins	INS	-	-	TGG	rs80248801|rs3062849|rs397784566|rs33994425|rs72515796	byFrequency	TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr11:3661585_3661586insTGG	ENST00000397068.3	-	2	465_466	c.73_74insCCA	c.(73-75)atc>aCCAtc	p.24_25insT	ART5_ENST00000359918.4_In_Frame_Ins_p.24_25insT|TRPC2_ENST00000526541.1_RNA|ART5_ENST00000397067.3_In_Frame_Ins_p.24_25insT	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	24			P -> PT (in dbSNP:rs72515796). {ECO:0000269|PubMed:12070318, ECO:0000269|PubMed:12975309, ECO:0000269|PubMed:15489334, ECO:0000269|Ref.4}.		protein ADP-ribosylation (GO:0006471)	extracellular region (GO:0005576)|membrane (GO:0016020)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ nucleosidase activity (GO:0003953)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGGGCAGGATGGGAACAGCC	0.569														4845	0.967452	0.8828	0.9914	5008	,	,		17488	1.0		0.999	False		,,,				2504	0.999																0			11							,	3654,406		1675,304,51					,	5.0	1.0		dbSNP_102	24	7782,12		3887,8,2	no	coding,coding	ART5	NM_053017.3,NM_001079536.1	,	5562,312,53	A1A1,A1R,RR		0.154,10.0,3.5262	,	,		11436,418				3618162	SO:0001652	inframe_insertion	116969			Y16835	CCDS7743.1, CCDS73242.1	11p15.4	2008-02-05			ENSG00000167311	ENSG00000167311			24049	protein-coding gene	gene with protein product		610625				11587854, 10448534	Standard	NM_001079536		Approved		uc001lyb.1	Q96L15	OTTHUMG00000011842	ENST00000397068.3:c.71_73dupCCA	11.37:g.3661586_3661588dupTGG	ENSP00000380258:p.Pro24_Ile25insThr		3618161	C9IYG7|Q6UX84|Q86W02	In_Frame_Ins	INS	ENST00000397068.3	37	CCDS7743.1																																																																																				0.569	ART5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032760.2	NM_053017	
ESRRA	2101	hgsc.bcm.edu	37	11	64083296	64083298	+	In_Frame_Del	DEL	GGG	GGG	-			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	GGG	GGG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr11:64083296_64083298delGGG	ENST00000405666.1	+	7	1364_1366	c.1130_1132delGGG	c.(1129-1134)cgggcg>ccg	p.377_378RA>P	ESRRA_ENST00000000442.6_In_Frame_Del_p.377_378RA>P|PRDX5_ENST00000265462.4_5'Flank|PRDX5_ENST00000352435.4_5'Flank|PRDX5_ENST00000347941.4_5'Flank|ESRRA_ENST00000406310.1_In_Frame_Del_p.376_377RA>P	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	377	Ligand binding domain.				cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|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 proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R377_A378>P(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						GAGCGGCGGCGGGCGGGCAGGCT	0.69																																																	2	Complex - deletion inframe(2)	lung(2)	11								51,3601		5,41,1780						2.3	1.0			19	264,7542		4,256,3643	no	coding	ESRRA	NM_004451.3		9,297,5423	A1A1,A1R,RR		3.382,1.3965,2.7492				315,11143				63839874	SO:0001651	inframe_deletion	2101			X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"""Nuclear hormone receptors"""	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.1130_1132delGGG	11.37:g.64083296_64083298delGGG	ENSP00000384851:p.Arg377_Ala378delinsPro		63839872	Q14514	In_Frame_Del	DEL	ENST00000405666.1	37	CCDS41667.1																																																																																				0.690	ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319304.1	NM_004451	
CASP5	838	hgsc.bcm.edu	37	11	104879687	104879687	+	Frame_Shift_Del	DEL	T	T	-	rs372526393		TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr11:104879687delT	ENST00000260315.3	-	2	27	c.28delA	c.(28-30)aggfs	p.R11fs	CASP5_ENST00000531367.1_Intron|CASP5_ENST00000418434.1_Intron|CASP5_ENST00000393139.2_5'UTR|CASP5_ENST00000444749.2_Intron|CASP5_ENST00000526056.1_Frame_Shift_Del_p.R24fs|CASP5_ENST00000393141.2_Frame_Shift_Del_p.R24fs			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			11							,,,	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	104384897	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		104384897	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	
OR8D4	338662	hgsc.bcm.edu	37	11	123777441	123777442	+	Frame_Shift_Ins	INS	-	-	T	rs79561639|rs74740497|rs201238608	byFrequency	TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr11:123777441_123777442insT	ENST00000321355.2	+	1	333_334	c.303_304insT	c.(304-306)tttfs	p.F102fs		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGATTCAGCTGTTTTTTTTCTG	0.436													TTTTTTTT|TTTTTTTT|TTTTTTTTT|insertion	116	0.0231629	0.084	0.0058	5008	,	,		21496	0.0		0.001	False		,,,				2504	0.0																0			11								222,0,4042		5,0,212,0,0,1915						-6.5	0.6		dbSNP_131	230	2,2,8250		0,0,2,0,2,4123	no	codingComplex	OR8D4	NM_001005197.1		5,0,214,0,2,6038	A1A1,A1A2,A1R,A2A2,A2R,RR		0.0485,5.2064,1.8054				224,2,12292				123282652	SO:0001589	frameshift_variant	338662			AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.311dupT	11.37:g.123777449_123777449dupT	ENSP00000325381:p.Phe102fs		123282651	Q6IFE9	Frame_Shift_Ins	INS	ENST00000321355.2	37	CCDS31698.1																																																																																				0.436	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387262.1	NM_001005197	
OR6C76	390326	hgsc.bcm.edu	37	12	55820959	55820959	+	Frame_Shift_Del	DEL	A	A	-	rs397719965|rs57387180		TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr12:55820959delA	ENST00000328314.3	+	1	922	c.922delA	c.(922-924)aaafs	p.K311fs		NM_001005183.1	NP_001005183.1	A6NM76	O6C76_HUMAN	olfactory receptor, family 6, subfamily C, member 76	311						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GATTTCCCACAAAAAAAAAAA	0.338																																																	0			12											19.0	20.0	19.0					12																	55820959		2110	4120	6230	54107226	SO:0001589	frameshift_variant	390326				CCDS31823.1	12q13.2	2013-09-23			ENSG00000185821	ENSG00000185821		"""GPCR / Class A : Olfactory receptors"""	31305	protein-coding gene	gene with protein product							Standard	NM_001005183		Approved		uc010spm.2	A6NM76	OTTHUMG00000169956	ENST00000328314.3:c.922delA	12.37:g.55820959delA	ENSP00000328402:p.Lys311fs		54107226		Frame_Shift_Del	DEL	ENST00000328314.3	37	CCDS31823.1																																																																																				0.338	OR6C76-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406675.1	NM_001005183	
ORAI1	84876	hgsc.bcm.edu	37	12	122064774	122064779	+	In_Frame_Del	DEL	CCGCCA	CCGCCA	-	rs141919534|rs531278468		TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	CCGCCA	CCGCCA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr12:122064774_122064779delCCGCCA	ENST00000330079.7	+	1	320_325	c.127_132delCCGCCA	c.(127-132)ccgccadel	p.PP47del		NM_032790.3	NP_116179	Q96D31	CRCM1_HUMAN	ORAI calcium release-activated calcium modulator 1	0	Pro-rich.				blood coagulation (GO:0007596)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|regulation of calcium ion transport (GO:0051924)|store-operated calcium entry (GO:0002115)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|protein complex (GO:0043234)	identical protein binding (GO:0042802)|store-operated calcium channel activity (GO:0015279)	p.P43_P44delPP(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		cccgggggccccgccaccgccaccgc	0.748														5007	0.9998	1.0	1.0	5008	,	,		5795	1.0		1.0	False		,,,				2504	0.999																1	Deletion - In frame(1)	breast(1)	12																																								120549162	SO:0001651	inframe_deletion	84876			AK027372		12q24.31	2014-09-17	2007-08-14	2007-08-14	ENSG00000182500	ENSG00000276045		"""ORAI calcium release-activated calcium modulators"""	25896	protein-coding gene	gene with protein product	"""calcium release-activated calcium modulator 1"""	610277	"""transmembrane protein 142A"""	TMEM142A		16582901	Standard	NM_032790		Approved	FLJ14466, CRACM1	uc021rff.1	Q96D31		ENST00000330079.7:c.127_132delCCGCCA	12.37:g.122064780_122064785delCCGCCA	ENSP00000328216:p.Pro47_Pro48del		120549157	Q3MHV3|Q6DHX2|Q96BP7|Q96K71	In_Frame_Del	DEL	ENST00000330079.7	37	CCDS41851.1																																																																																				0.748	ORAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402151.1	NM_032790	
WASF3	10810	hgsc.bcm.edu	37	13	27241676	27241677	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr13:27241676_27241677insA	ENST00000335327.5	+	5	469_470	c.291_292insA	c.(292-294)aaafs	p.K98fs	WASF3_ENST00000361042.4_Frame_Shift_Ins_p.K98fs|WASF3_ENST00000496788.1_3'UTR	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	98					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		ATATCAACATGAAAAAAGCTTT	0.351																																																	0			13																																								26139677	SO:0001589	frameshift_variant	10810			AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.297dupA	13.37:g.27241682_27241682dupA	ENSP00000335055:p.Lys98fs		26139676	O94974|Q86VQ2	Frame_Shift_Ins	INS	ENST00000335327.5	37	CCDS9318.1																																																																																				0.351	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1		
HOMEZ	57594	hgsc.bcm.edu	37	14	23744827	23744829	+	In_Frame_Del	DEL	TCC	TCC	-	rs79723196|rs35076736|rs67447855	byFrequency	TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	TCC	TCC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr14:23744827_23744829delTCC	ENST00000357460.5	-	2	1772_1774	c.1608_1610delGGA	c.(1606-1611)gaggaa>gaa	p.536_537EE>E	HOMEZ_ENST00000431326.2_In_Frame_Del_p.538_539EE>E|HOMEZ_ENST00000561013.1_In_Frame_Del_p.538_539EE>E	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	536	Glu-rich.|Poly-Asp.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		atcatcatcttcctcctcctcct	0.483														1763	0.352037	0.3949	0.3386	5008	,	,		20301	0.1974		0.3738	False		,,,				2504	0.4407																0			14																																								22814669	SO:0001651	inframe_deletion	57594			AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"""Homeoboxes / ZF class"""	20164	protein-coding gene	gene with protein product		608119	"""KIAA1443"""	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.1608_1610delGGA	14.37:g.23744836_23744838delTCC	ENSP00000350049:p.Glu537del		22814667	A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	In_Frame_Del	DEL	ENST00000357460.5	37	CCDS45085.1																																																																																				0.483	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000416939.2	NM_020834	
OR1E2	8388	hgsc.bcm.edu	37	17	3337127	3337131	+	Frame_Shift_Del	DEL	TCCCA	TCCCA	-			TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	TCCCA	TCCCA					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr17:3337127_3337131delTCCCA	ENST00000248384.1	-	1	4_8	c.5_9delTGGGA	c.(4-9)atgggafs	p.MG2fs		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	2					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			endometrium(3)|large_intestine(3)|lung(3)	9						TTTGATTTTGTCCCATCATGCTCTG	0.429																																																	0			17																																								3283881	SO:0001589	frameshift_variant	8388			U04686	CCDS11026.1	17p13.3	2012-08-09			ENSG00000127780	ENSG00000127780		"""GPCR / Class A : Olfactory receptors"""	8190	protein-coding gene	gene with protein product				OR1E4		8004088, 9500546	Standard	NM_003554		Approved	OR17-93, OR17-135	uc010vre.2	P47887	OTTHUMG00000090651	ENST00000248384.1:c.5_9delTGGGA	17.37:g.3337127_3337131delTCCCA	ENSP00000248384:p.Met2fs		3283877	O43877|O95632|Q0VAD5|Q0VAD6|Q9UL13	Frame_Shift_Del	DEL	ENST00000248384.1	37	CCDS11026.1																																																																																				0.429	OR1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207311.1		
KRTAP4-1	85285	hgsc.bcm.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929|rs543483191|rs79048996|rs1985673|rs2320229|rs483893|rs572749|rs543006020|rs71155126|rs554407371|rs2320230	byFrequency	TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgcccactctgctgtcagaccacctgccaccccagctgtggtatgtccagctgctgccgt>cgt	p.85_104RPLCCQTTCHPSCGMSSCCR>R				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646																																																	4	Deletion - In frame(4)	upper_aerodigestive_tract(2)|prostate(2)	17																																								36594378	SO:0001651	inframe_deletion	85285			AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	17.37:g.39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENSP00000381489:p.Arg85_Cys103del		36594322	A8MWS7|Q3SYF2	Frame_Shift_Del	DEL	ENST00000398472.1	37																																																																																					0.646	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1	NM_033060	
DEFB126	81623	hgsc.bcm.edu	37	20	126311	126312	+	Frame_Shift_Del	DEL	CC	CC	-	rs376364807|rs11467417|rs386393058		TCGA-DY-A1H8-01A-21D-A152-10	TCGA-DY-A1H8-10A-01D-A152-10	CC	CC					Unknown	Unknown	Somatic	Phase_I	Capture	none			Illumina HiSeq	8c79787f-511e-4f2e-83e1-639a2e411ed4	63452874-515e-4d43-9a18-acf647371b39	g.chr20:126311_126312delCC	ENST00000382398.3	+	2	574_575	c.314_315delCC	c.(313-315)accfs	p.T105fs	DEFB126_ENST00000542572.1_3'UTR	NM_030931.3	NP_112193.1	Q9BYW3	DB126_HUMAN	defensin, beta 126	105					defense response to bacterium (GO:0042742)	cell surface (GO:0009986)|extracellular region (GO:0005576)|glycocalyx (GO:0030112)				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			ATGGCTCCTACCCCCGTTTCTC	0.455																																																	0			20								2386,1878		678,1030,424						-4.7	0.0		dbSNP_120	113	4702,3552		1341,2020,766	no	frameshift	DEFB126	NM_030931.2		2019,3050,1190	A1A1,A1R,RR		43.0337,44.0432,43.3775				7088,5430				74312	SO:0001589	frameshift_variant	81623				CCDS12990.1	20p13	2010-03-30	2002-05-09	2002-05-10	ENSG00000125788	ENSG00000125788		"""Defensins, beta"""	15900	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 8"""	C20orf8		11854508	Standard	NM_030931		Approved	bA530N10.1, DEFB-26	uc002wcx.3	Q9BYW3	OTTHUMG00000031616	ENST00000382398.3:c.314_315delCC	20.37:g.126313_126314delCC	ENSP00000371835:p.Thr105fs		74311	Q562G3|Q9H1M5	Frame_Shift_Del	DEL	ENST00000382398.3	37	CCDS12990.1																																																																																				0.455	DEFB126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077428.2	NM_030931	
