#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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_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
CHST12	55501	hgsc.bcm.edu	37	7	2472417	2472417	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr7:2472417C>T	ENST00000258711.6	+	2	278	c.143C>T	c.(142-144)cCg>cTg	p.P48L		NM_001243794.1|NM_001243795.1|NM_018641.4	NP_001230723.1|NP_001230724.1|NP_061111.1	Q9NRB3	CHSTC_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 12	48					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|chondroitin 4-sulfotransferase activity (GO:0047756)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0847)|OV - Ovarian serous cystadenocarcinoma(56;2.25e-13)		ACGGGGCCGCCGCTGCCCACG	0.637																																																	0			7											45.0	52.0	50.0					7																	2472417		2203	4299	6502	2438943	SO:0001583	missense	55501			AF239822	CCDS5333.1	7p22	2007-03-14			ENSG00000136213	ENSG00000136213	2.8.2.5	"""Sulfotransferases, membrane-bound"""	17423	protein-coding gene	gene with protein product		610129				10781601	Standard	NM_018641		Approved	C4S-2, C4ST2	uc021zyu.1	Q9NRB3	OTTHUMG00000023849	ENST00000258711.6:c.143C>T	7.37:g.2472417C>T	ENSP00000258711:p.Pro48Leu	Somatic		Capture	Illumina HiSeq	Phase_I	2438943	A4D1Z9|Q502W3|Q9NXY7	Missense_Mutation	SNP	ENST00000258711.6	37	CCDS5333.1	.	.	.	.	.	.	.	.	.	.	C	5.912	0.352372	0.11182	.	.	ENSG00000136213	ENST00000258711;ENST00000432336	T;T	0.62232	0.04;0.87	4.76	2.9	0.33743	.	2.919880	0.01280	N	0.009707	T	0.56046	0.1959	L	0.41236	1.265	0.09310	N	0.999999	B	0.10296	0.003	B	0.04013	0.001	T	0.35798	-0.9774	10	0.36615	T	0.2	-11.1575	8.078	0.30729	0.0:0.753:0.1608:0.0862	.	48	Q9NRB3	CHSTC_HUMAN	L	48	ENSP00000258711:P48L;ENSP00000411207:P48L	ENSP00000258711:P48L	P	+	2	0	CHST12	2438943	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	1.289000	0.33307	0.984000	0.38629	0.485000	0.47835	CCG		CHST12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060170.3	NM_018641	
IGF2BP3	10643	hgsc.bcm.edu	37	7	23391065	23391065	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr7:23391065C>T	ENST00000258729.3	-	6	898	c.542G>A	c.(541-543)aGg>aAg	p.R181K	IGF2BP3_ENST00000491719.1_5'UTR	NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	181					anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation regulator activity (GO:0045182)	p.R181M(1)|p.R181K(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						AGACCCCTGCCTTGAGGAGCC	0.567																																																	2	Substitution - Missense(2)	ovary(1)|skin(1)	7											54.0	53.0	53.0					7																	23391065		2203	4300	6503	23357590	SO:0001583	missense	10643			AF117108	CCDS5382.1	7p15.3	2014-02-19			ENSG00000136231	ENSG00000136231		"""RNA binding motif (RRM) containing"""	28868	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 3"", ""cancer/testis antigen 98"""	608259				9891060, 9178771	Standard	NM_006547		Approved	IMP-3, CT98, IMP3	uc003swg.3	O00425	OTTHUMG00000128445	ENST00000258729.3:c.542G>A	7.37:g.23391065C>T	ENSP00000258729:p.Arg181Lys	Somatic		Capture	Illumina HiSeq	Phase_I	23357590	A0A4Z5|Q63HM0|Q6MZZ2|Q86VB1	Missense_Mutation	SNP	ENST00000258729.3	37	CCDS5382.1	.	.	.	.	.	.	.	.	.	.	C	32	5.120209	0.94385	.	.	ENSG00000136231	ENST00000258729	T	0.15372	2.43	5.88	5.88	0.94601	.	0.000000	0.85682	D	0.000000	T	0.20210	0.0486	M	0.61703	1.905	0.80722	D	1	B	0.34161	0.439	B	0.29353	0.101	T	0.06232	-1.0838	10	0.13470	T	0.59	-10.6987	20.2405	0.98372	0.0:1.0:0.0:0.0	.	181	O00425	IF2B3_HUMAN	K	181	ENSP00000258729:R181K	ENSP00000258729:R181K	R	-	2	0	IGF2BP3	23357590	0.993000	0.37304	0.944000	0.38274	0.961000	0.63080	7.770000	0.85390	2.797000	0.96272	0.561000	0.74099	AGG		IGF2BP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250243.2	NM_006547	
STK31	56164	hgsc.bcm.edu	37	7	23775222	23775222	+	Silent	SNP	T	T	C			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr7:23775222T>C	ENST00000355870.3	+	7	668	c.549T>C	c.(547-549)tcT>tcC	p.S183S	STK31_ENST00000433467.2_Silent_p.S183S|STK31_ENST00000354639.3_Silent_p.S160S|STK31_ENST00000428484.1_Silent_p.S160S|STK31_ENST00000405627.3_3'UTR	NM_031414.4	NP_113602.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	183						acrosomal vesicle (GO:0001669)	ATP binding (GO:0005524)|hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAGCAACCTCTGAAGATGGAA	0.398																																																	0			7											123.0	119.0	120.0					7																	23775222		2203	4300	6503	23741747	SO:0001819	synonymous_variant	56164			AF285599	CCDS5386.1, CCDS43556.1, CCDS59049.1	7p15.3	2014-04-23			ENSG00000196335	ENSG00000196335		"""Tudor domain containing"""	11407	protein-coding gene	gene with protein product		605790				11279525	Standard	NM_031414		Approved	TDRD8, SgK396	uc003sws.5	Q9BXU1	OTTHUMG00000023053	ENST00000355870.3:c.549T>C	7.37:g.23775222T>C		Somatic		Capture	Illumina HiSeq	Phase_I	23741747	B4DZ06|B7WPP5|C9J4F9|Q6PCD3|Q9BXH8	Silent	SNP	ENST00000355870.3	37	CCDS5386.1																																																																																				STK31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214036.2	NM_031414	
HERPUD2	64224	hgsc.bcm.edu	37	7	35674832	35674832	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr7:35674832C>T	ENST00000396081.1	-	6	1658	c.854G>A	c.(853-855)cGa>cAa	p.R285Q	HERPUD2_ENST00000426180.1_5'UTR|HERPUD2_ENST00000311350.3_Missense_Mutation_p.R285Q	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	285					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.R285Q(1)		kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						AATCGCAGCTCGTGAGAACGT	0.418																																																	1	Substitution - Missense(1)	ovary(1)	7											184.0	165.0	172.0					7																	35674832		2203	4300	6503	35641357	SO:0001583	missense	64224			BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"""						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.854G>A	7.37:g.35674832C>T	ENSP00000379390:p.Arg285Gln	Somatic		Capture	Illumina HiSeq	Phase_I	35641357	A4D1Y8|Q9H6F9	Missense_Mutation	SNP	ENST00000396081.1	37	CCDS5446.1	.	.	.	.	.	.	.	.	.	.	C	36	5.743175	0.96873	.	.	ENSG00000122557	ENST00000396081;ENST00000311350	T;T	0.20738	2.05;2.05	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.46983	0.1421	L	0.58510	1.815	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.24905	-1.0147	10	0.66056	D	0.02	-32.1447	20.422	0.99049	0.0:1.0:0.0:0.0	.	285	Q9BSE4	HERP2_HUMAN	Q	285	ENSP00000379390:R285Q;ENSP00000310729:R285Q	ENSP00000310729:R285Q	R	-	2	0	HERPUD2	35641357	1.000000	0.71417	0.566000	0.28421	0.991000	0.79684	7.818000	0.86416	2.832000	0.97577	0.655000	0.94253	CGA		HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250584.1	NM_022373	
URGCP	55665	hgsc.bcm.edu	37	7	43917510	43917510	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr7:43917510C>T	ENST00000453200.1	-	6	2045	c.1552G>A	c.(1552-1554)Gtg>Atg	p.V518M	URGCP_ENST00000402306.3_Missense_Mutation_p.V509M|URGCP_ENST00000443736.1_Missense_Mutation_p.V475M|URGCP_ENST00000447717.3_Missense_Mutation_p.V475M|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000223341.7_Missense_Mutation_p.V475M|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000336086.6_Missense_Mutation_p.V475M			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	518					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGGGGGTCCACGGCCCACTGG	0.632																																																	0			7											56.0	60.0	59.0					7																	43917510		1982	4164	6146	43884035	SO:0001583	missense	0				CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.1552G>A	7.37:g.43917510C>T	ENSP00000396918:p.Val518Met	Somatic		Capture	Illumina HiSeq	Phase_I	43884035	E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	C	6.406	0.443065	0.12164	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.09630	2.96;2.96;2.96;2.96;2.96;2.96	5.79	-0.69	0.11309	.	0.724608	0.12948	N	0.426046	T	0.04137	0.0115	N	0.08118	0	0.09310	N	1	P;P	0.38922	0.651;0.651	B;B	0.34722	0.188;0.188	T	0.32824	-0.9892	10	0.72032	D	0.01	-5.7877	3.0448	0.06149	0.1003:0.4649:0.1445:0.2903	.	509;518	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	M	475;475;509;475;518;475	ENSP00000223341:V475M;ENSP00000336872:V475M;ENSP00000384955:V509M;ENSP00000392136:V475M;ENSP00000396918:V518M;ENSP00000402803:V475M	ENSP00000223341:V475M	V	-	1	0	URGCP	43884035	0.000000	0.05858	0.000000	0.03702	0.460000	0.32559	0.086000	0.14935	-0.467000	0.06932	-0.302000	0.09304	GTG		URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664	
URGCP	55665	hgsc.bcm.edu	37	7	43917673	43917673	+	Silent	SNP	G	G	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr7:43917673G>A	ENST00000453200.1	-	6	1882	c.1389C>T	c.(1387-1389)gaC>gaT	p.D463D	URGCP_ENST00000402306.3_Silent_p.D454D|URGCP_ENST00000443736.1_Silent_p.D420D|URGCP_ENST00000447717.3_Silent_p.D420D|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000223341.7_Silent_p.D420D|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000336086.6_Silent_p.D420D			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	463					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CACAGTCCTCGTCGACCTTTA	0.592																																																	0			7											125.0	132.0	130.0					7																	43917673		2044	4188	6232	43884198	SO:0001819	synonymous_variant	0				CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.1389C>T	7.37:g.43917673G>A		Somatic		Capture	Illumina HiSeq	Phase_I	43884198	E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Silent	SNP	ENST00000453200.1	37	CCDS47578.1																																																																																				URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664	
HUS1	3364	hgsc.bcm.edu	37	7	48007445	48007445	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr7:48007445A>G	ENST00000258774.5	-	7	741	c.718T>C	c.(718-720)Ttt>Ctt	p.F240L	HUS1_ENST00000432325.1_Missense_Mutation_p.F219L	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	240					cellular response to DNA damage stimulus (GO:0006974)|cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|embryo development (GO:0009790)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|protein phosphorylation (GO:0006468)|regulation of protein phosphorylation (GO:0001932)|response to UV (GO:0009411)	checkpoint clamp complex (GO:0030896)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				CCAGCAAGAAACTGTAGGAGC	0.398								Direct reversal of damage;Other conserved DNA damage response genes																													Ovarian(103;466 1517 21788 34610 43890)												0			7											178.0	158.0	165.0					7																	48007445		2203	4300	6503	47973970	SO:0001583	missense	3364			Y16893	CCDS34635.1	7p13-p12	2008-08-08	2001-11-28		ENSG00000136273	ENSG00000136273			5309	protein-coding gene	gene with protein product	"""hus1+-like protein"""	603760	"""HUS1 (S. pombe) checkpoint homolog"""			9878245, 9524127	Standard	NM_004507		Approved		uc003tod.2	O60921	OTTHUMG00000155645	ENST00000258774.5:c.718T>C	7.37:g.48007445A>G	ENSP00000258774:p.Phe240Leu	Somatic		Capture	Illumina HiSeq	Phase_I	47973970	B4DFI9	Missense_Mutation	SNP	ENST00000258774.5	37	CCDS34635.1	.	.	.	.	.	.	.	.	.	.	A	14.26	2.481827	0.44147	.	.	ENSG00000136273	ENST00000258774;ENST00000432325	T;T	0.10960	2.82;2.82	5.34	4.18	0.49190	.	0.099013	0.64402	N	0.000001	T	0.08088	0.0202	L	0.33189	0.99	0.58432	D	0.999998	B	0.24317	0.101	B	0.27262	0.078	T	0.22695	-1.0209	10	0.13108	T	0.6	-2.9456	8.5092	0.33206	0.9006:0.0:0.0994:0.0	.	240	O60921	HUS1_HUMAN	L	240;219	ENSP00000258774:F240L;ENSP00000416588:F219L	ENSP00000258774:F240L	F	-	1	0	HUS1	47973970	1.000000	0.71417	0.881000	0.34555	0.995000	0.86356	2.083000	0.41615	0.954000	0.37851	0.528000	0.53228	TTT		HUS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340952.1	NM_004507	
SUN3	256979	hgsc.bcm.edu	37	7	48046831	48046831	+	Missense_Mutation	SNP	C	C	A	rs556391462		TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr7:48046831C>A	ENST00000297325.4	-	5	582	c.423G>T	c.(421-423)aaG>aaT	p.K141N	SUN3_ENST00000453192.2_Missense_Mutation_p.K129N|SUN3_ENST00000395572.2_Missense_Mutation_p.K141N|SUN3_ENST00000412142.1_Missense_Mutation_p.K41N	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	141						integral component of membrane (GO:0016021)|SUN-KASH complex (GO:0034993)				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCATACCATCCTTCATATCTC	0.463																																																	0			7											154.0	147.0	149.0					7																	48046831		2203	4300	6503	48013356	SO:0001583	missense	0			AF429967	CCDS34636.1, CCDS64647.1	7p12.3	2010-01-27	2010-01-27	2010-01-27	ENSG00000164744	ENSG00000164744			22429	protein-coding gene	gene with protein product			"""Sad1 and UNC84 domain containing 1"""	SUNC1			Standard	NM_001284350		Approved	MGC33329	uc003tof.3	Q8TAQ9	OTTHUMG00000155646	ENST00000297325.4:c.423G>T	7.37:g.48046831C>A	ENSP00000297325:p.Lys141Asn	Somatic		Capture	Illumina HiSeq	Phase_I	48013356	A4D2F3|B4DXK1|D3DVM3|E7EWC8|Q4F965|Q7Z4U8	Missense_Mutation	SNP	ENST00000297325.4	37	CCDS34636.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.93|11.93	1.786171|1.786171	0.31593|0.31593	.|.	.|.	ENSG00000164744|ENSG00000164744	ENST00000297325;ENST00000412142;ENST00000395572;ENST00000453192;ENST00000438771|ENST00000453071	T;T;T;T;T|.	0.25414|.	1.8;1.87;1.8;2.45;1.87|.	5.56|5.56	3.42|3.42	0.39159|0.39159	.|.	0.507802|.	0.19235|.	N|.	0.119311|.	T|T	0.32102|0.32102	0.0818|0.0818	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	P;P;P|.	0.38504|.	0.454;0.634;0.454|.	B;B;B|.	0.39465|.	0.079;0.3;0.115|.	T|T	0.17930|0.17930	-1.0353|-1.0353	10|5	0.54805|.	T|.	0.06|.	.|.	8.7571|8.7571	0.34652|0.34652	0.0:0.8002:0.0:0.1998|0.0:0.8002:0.0:0.1998	.|.	129;41;141|.	E7EWC8;Q8TAQ9-2;Q8TAQ9|.	.;.;SUN3_HUMAN|.	N|M	141;41;141;129;41|61	ENSP00000297325:K141N;ENSP00000410204:K41N;ENSP00000378939:K141N;ENSP00000387525:K129N;ENSP00000409077:K41N|.	ENSP00000297325:K141N|.	K|R	-|-	3|2	2|0	SUN3|SUN3	48013356|48013356	0.001000|0.001000	0.12720|0.12720	0.003000|0.003000	0.11579|0.11579	0.023000|0.023000	0.10783|0.10783	1.255000|1.255000	0.32909|0.32909	1.346000|1.346000	0.45694|0.45694	0.655000|0.655000	0.94253|0.94253	AAG|AGG		SUN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340962.1	NM_152782	
EGFR	1956	hgsc.bcm.edu	37	7	55248992	55248992	+	Missense_Mutation	SNP	T	T	C	rs397517105		TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr7:55248992T>C	ENST00000275493.2	+	20	2467	c.2290T>C	c.(2290-2292)Tac>Cac	p.Y764H	EGFR_ENST00000455089.1_Missense_Mutation_p.Y719H|EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.Y711H	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	764	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.A763_Y764insFQEA(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	CCAGGAAGCCTACGTGATGGC	0.637		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	1	Insertion - In frame(1)	lung(1)	7											100.0	93.0	96.0					7																	55248992		2203	4300	6503	55216486	SO:0001583	missense	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.2290T>C	7.37:g.55248992T>C	ENSP00000275493:p.Tyr764His	Somatic		Capture	Illumina HiSeq	Phase_I	55216486	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.507936	0.85282	.	.	ENSG00000146648	ENST00000455089;ENST00000395504;ENST00000275493;ENST00000454757	D;D;D	0.82255	-1.59;-1.59;-1.59	5.85	5.85	0.93711	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.79902	0.4526	N	0.02403	-0.565	0.80722	D	1	P;D	0.76494	0.546;0.999	B;D	0.81914	0.248;0.995	D	0.86441	0.1767	10	0.87932	D	0	.	15.0565	0.71917	0.0:0.0:0.0:1.0	.	719;764	Q504U8;P00533	.;EGFR_HUMAN	H	719;634;764;711	ENSP00000415559:Y719H;ENSP00000275493:Y764H;ENSP00000395243:Y711H	ENSP00000275493:Y764H	Y	+	1	0	EGFR	55216486	1.000000	0.71417	0.996000	0.52242	0.870000	0.49936	8.009000	0.88606	2.228000	0.72767	0.533000	0.62120	TAC		EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228	
PCLO	27445	hgsc.bcm.edu	37	7	82785222	82785222	+	Missense_Mutation	SNP	T	T	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr7:82785222T>A	ENST00000333891.9	-	2	1072	c.735A>T	c.(733-735)gaA>gaT	p.E245D	PCLO_ENST00000423517.2_Missense_Mutation_p.E245D	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATTTAATTTTTTCTGGTTGTT	0.478																																																	0			7											94.0	84.0	87.0					7																	82785222		1928	4149	6077	82623158	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.735A>T	7.37:g.82785222T>A	ENSP00000334319:p.Glu245Asp	Somatic		Capture	Illumina HiSeq	Phase_I	82623158		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	14.24	2.476807	0.44044	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.18174	2.23;2.24	5.57	3.21	0.36854	.	.	.	.	.	T	0.14657	0.0354	L	0.42245	1.32	0.80722	D	1	P;P	0.36249	0.545;0.545	B;B	0.35770	0.21;0.21	T	0.03212	-1.1060	9	0.87932	D	0	.	7.962	0.30076	0.0:0.1642:0.0:0.8358	.	245;245	Q9Y6V0-5;Q9Y6V0-6	.;.	D	245	ENSP00000334319:E245D;ENSP00000388393:E245D	ENSP00000334319:E245D	E	-	3	2	PCLO	82623158	0.005000	0.15991	0.859000	0.33776	0.958000	0.62258	0.132000	0.15891	0.413000	0.25759	0.533000	0.62120	GAA		PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
ABCB4	5244	hgsc.bcm.edu	37	7	87032470	87032470	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr7:87032470A>G	ENST00000265723.4	-	27	3746	c.3635T>C	c.(3634-3636)cTg>cCg	p.L1212P	ABCB4_ENST00000359206.3_Missense_Mutation_p.L1205P|ABCB4_ENST00000358400.3_Missense_Mutation_p.L1158P|ABCB4_ENST00000545634.1_Missense_Mutation_p.L1205P|ABCB4_ENST00000453593.1_Missense_Mutation_p.L1158P	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	1212	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular lipid metabolic process (GO:0044255)|lipid metabolic process (GO:0006629)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				Colchicine(DB01394)|Etravirine(DB06414)|Silodosin(DB06207)	TTCAGTATCCAGAGCTGATGT	0.433																																																	0			7											167.0	149.0	155.0					7																	87032470		2203	4300	6503	86870406	SO:0001583	missense	5244			M23234	CCDS5605.1, CCDS5606.1, CCDS5607.1	7q21	2012-03-14			ENSG00000005471	ENSG00000005471		"""ATP binding cassette transporters / subfamily B"""	45	protein-coding gene	gene with protein product		171060		PGY3, MDR3		2892668, 11313316	Standard	NM_018850		Approved	MDR2, PFIC-3, GBD1	uc003uiv.1	P21439	OTTHUMG00000023396	ENST00000265723.4:c.3635T>C	7.37:g.87032470A>G	ENSP00000265723:p.Leu1212Pro	Somatic		Capture	Illumina HiSeq	Phase_I	86870406	A0A2V7|A4D1D3|A4D1D4|A4D1D5|D6W5P3|D6W5P4|Q14813	Missense_Mutation	SNP	ENST00000265723.4	37	CCDS5606.1	.	.	.	.	.	.	.	.	.	.	A	17.25	3.340766	0.60963	.	.	ENSG00000005471	ENST00000359206;ENST00000358400;ENST00000265723;ENST00000453593;ENST00000545634	D;D;D;D;D	0.91631	-2.88;-2.88;-2.88;-2.88;-2.88	5.25	5.25	0.73442	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.64402	D	0.000001	D	0.97532	0.9192	H	0.98664	4.295	0.80722	D	1	D;P;B	0.58970	0.984;0.474;0.343	D;B;B	0.64237	0.923;0.386;0.216	D	0.99019	1.0817	10	0.72032	D	0.01	-8.5153	15.4608	0.75356	1.0:0.0:0.0:0.0	.	1158;1205;1212	A4D1D5;P21439-2;P21439	.;.;MDR3_HUMAN	P	1205;1158;1212;1158;1205	ENSP00000352135:L1205P;ENSP00000351172:L1158P;ENSP00000265723:L1212P;ENSP00000392983:L1158P;ENSP00000437465:L1205P	ENSP00000265723:L1212P	L	-	2	0	ABCB4	86870406	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	9.287000	0.95975	2.113000	0.64589	0.459000	0.35465	CTG		ABCB4-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000336083.1	NM_000443	
CFAP69	79846	hgsc.bcm.edu	37	7	89897634	89897634	+	Missense_Mutation	SNP	G	G	C			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr7:89897634G>C	ENST00000389297.4	+	6	719	c.468G>C	c.(466-468)agG>agC	p.R156S	C7orf63_ENST00000463311.1_3'UTR|AC002064.4_ENST00000420245.1_RNA|C7orf63_ENST00000316089.8_Missense_Mutation_p.R156S|C7orf63_ENST00000497910.1_Missense_Mutation_p.R156S	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		156										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						CTGAATTGAGGATACAAATTT	0.338																																																	0			7											120.0	110.0	113.0					7																	89897634		1834	4089	5923	89735570	SO:0001583	missense	79846																														ENST00000389297.4:c.468G>C	7.37:g.89897634G>C	ENSP00000373948:p.Arg156Ser	Somatic		Capture	Illumina HiSeq	Phase_I	89735570	A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	ENST00000389297.4	37	CCDS43613.2	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996822	0.74818	.	.	ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000457170	T;T;T;T	0.57107	0.42;0.42;0.77;0.42	5.71	3.92	0.45320	.	0.000000	0.85682	D	0.000000	T	0.69851	0.3157	M	0.77103	2.36	0.36312	D	0.857694	D;D;D	0.89917	0.968;0.975;1.0	P;P;D	0.72338	0.818;0.83;0.977	T	0.76892	-0.2791	10	0.87932	D	0	-13.6775	10.4461	0.44495	0.2156:0.0:0.7844:0.0	.	156;156;154	A5D8W1-5;A5D8W1;A5D8W1-4	.;CG063_HUMAN;.	S	156;156;156;96	ENSP00000373948:R156S;ENSP00000321753:R156S;ENSP00000419549:R156S;ENSP00000392365:R96S	ENSP00000321753:R156S	R	+	3	2	C7orf63	89735570	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.792000	0.38754	0.776000	0.33473	0.655000	0.94253	AGG		C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139891.4		
PDK4	5166	hgsc.bcm.edu	37	7	95221867	95221867	+	Missense_Mutation	SNP	A	A	G	rs138077797		TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr7:95221867A>G	ENST00000005178.5	-	5	769	c.572T>C	c.(571-573)aTt>aCt	p.I191T		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	191	Histidine kinase. {ECO:0000255|PROSITE- ProRule:PRU00107}.				cellular metabolic process (GO:0044237)|cellular response to fatty acid (GO:0071398)|cellular response to starvation (GO:0009267)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|insulin receptor signaling pathway (GO:0008286)|negative regulation of anoikis (GO:2000811)|protein phosphorylation (GO:0006468)|pyruvate metabolic process (GO:0006090)|reactive oxygen species metabolic process (GO:0072593)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|regulation of bone resorption (GO:0045124)|regulation of cellular ketone metabolic process (GO:0010565)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of fatty acid oxidation (GO:0046320)|regulation of glucose metabolic process (GO:0010906)|regulation of pH (GO:0006885)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|pyruvate dehydrogenase (acetyl-transferring) kinase activity (GO:0004740)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			AATGCTTCCAATGTGGCTTGG	0.328																																																	0			7						A	THR/ILE	0,4406		0,0,2203	171.0	164.0	166.0		572	5.6	1.0	7	dbSNP_134	166	1,8599	1.2+/-3.3	0,1,4299	no	missense	PDK4	NM_002612.3	89	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	191/412	95221867	1,13005	2203	4300	6503	95059803	SO:0001583	missense	5166			U54617	CCDS5643.1	7q21.3-q22.1	2008-07-18	2005-11-16		ENSG00000004799	ENSG00000004799			8812	protein-coding gene	gene with protein product		602527	"""pyruvate dehydrogenase kinase, isoenzyme 4"""			7499431	Standard	NM_002612		Approved		uc003uoa.3	Q16654	OTTHUMG00000153977	ENST00000005178.5:c.572T>C	7.37:g.95221867A>G	ENSP00000005178:p.Ile191Thr	Somatic		Capture	Illumina HiSeq	Phase_I	95059803		Missense_Mutation	SNP	ENST00000005178.5	37	CCDS5643.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.619477	0.87460	0.0	1.16E-4	ENSG00000004799	ENST00000005178;ENST00000542888	T	0.38401	1.14	5.6	5.6	0.85130	ATPase-like, ATP-binding domain (1);Branched-chain alpha-ketoacid dehydrogenase kinase/Pyruvate dehydrogenase kinase, N-terminal (2);	0.000000	0.85682	D	0.000000	T	0.69967	0.3170	M	0.93978	3.48	0.80722	D	1	D	0.54047	0.964	D	0.74023	0.982	T	0.78074	-0.2346	10	0.62326	D	0.03	.	16.0934	0.81106	1.0:0.0:0.0:0.0	.	191	Q16654	PDK4_HUMAN	T	191;155	ENSP00000005178:I191T	ENSP00000005178:I191T	I	-	2	0	PDK4	95059803	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.109000	0.94291	2.254000	0.74563	0.528000	0.53228	ATT		PDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333298.1	NM_002612	
SLC26A4	5172	hgsc.bcm.edu	37	7	107323968	107323968	+	Silent	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr7:107323968A>G	ENST00000265715.3	+	8	1211	c.987A>G	c.(985-987)aaA>aaG	p.K329K		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	329					chloride transmembrane transport (GO:1902476)|inorganic anion transport (GO:0015698)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|regulation of protein localization (GO:0032880)|sensory perception of sound (GO:0007605)|sulfate transmembrane transport (GO:1902358)|sulfate transport (GO:0008272)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	chloride transmembrane transporter activity (GO:0015108)|iodide transmembrane transporter activity (GO:0015111)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sulfate transmembrane transporter activity (GO:0015116)			central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(8)|lung(16)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GCATTGTTAAATCCATCCCAA	0.333									Pendred syndrome																																								0			7											67.0	68.0	68.0					7																	107323968		2203	4300	6503	107111204	SO:0001819	synonymous_variant	5172	Familial Cancer Database	Goiter-Deafness syndrome	AF030880	CCDS5746.1	7q31	2013-07-18	2013-07-18		ENSG00000091137	ENSG00000091137		"""Solute carriers"""	8818	protein-coding gene	gene with protein product	"""pendrin"""	605646	"""solute carrier family 26, member 4"""	DFNB4		9500541, 11087667	Standard	NM_000441		Approved	PDS	uc003vep.3	O43511	OTTHUMG00000154807	ENST00000265715.3:c.987A>G	7.37:g.107323968A>G		Somatic		Capture	Illumina HiSeq	Phase_I	107111204	B7Z266|O43170	Silent	SNP	ENST00000265715.3	37	CCDS5746.1																																																																																				SLC26A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337148.1	NM_000441	
LRRC4	64101	hgsc.bcm.edu	37	7	127668959	127668959	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr7:127668959T>C	ENST00000249363.3	-	2	1992	c.1735A>G	c.(1735-1737)Aca>Gca	p.T579A	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	579			T -> A (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		postsynaptic density protein 95 clustering (GO:0097119)|regulation of synapse organization (GO:0050807)|synapse organization (GO:0050808)	cell junction (GO:0030054)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)		p.T579A(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		gctgcggatgttgctgctgGG	0.532																																																	1	Substitution - Missense(1)	large_intestine(1)	7											103.0	84.0	90.0					7																	127668959		2203	4300	6503	127456195	SO:0001583	missense	64101			AF196976	CCDS5799.1	7q31	2013-01-14	2003-11-19		ENSG00000128594	ENSG00000128594		"""Immunoglobulin superfamily / I-set domain containing"""	15586	protein-coding gene	gene with protein product		610486	"""leucine-rich repeat-containing 4"""			12969517	Standard	NM_022143		Approved	NAG14	uc003vmk.3	Q9HBW1	OTTHUMG00000157563	ENST00000249363.3:c.1735A>G	7.37:g.127668959T>C	ENSP00000249363:p.Thr579Ala	Somatic		Capture	Illumina HiSeq	Phase_I	127456195	A4D0Y9|Q14DU9|Q6ZMI8|Q96A85	Missense_Mutation	SNP	ENST00000249363.3	37	CCDS5799.1	.	.	.	.	.	.	.	.	.	.	T	0.019	-1.455999	0.01071	.	.	ENSG00000128594	ENST00000249363	T	0.26223	1.75	4.24	2.39	0.29439	.	0.612104	0.15196	N	0.275281	T	0.08980	0.0222	N	0.08118	0	0.29210	N	0.874632	B	0.22346	0.068	B	0.15870	0.014	T	0.34104	-0.9842	10	0.02654	T	1	.	5.4652	0.16639	0.0:0.7427:0.0:0.2573	.	579	Q9HBW1	LRRC4_HUMAN	A	579	ENSP00000249363:T579A	ENSP00000249363:T579A	T	-	1	0	LRRC4	127456195	0.001000	0.12720	0.631000	0.29282	0.926000	0.56050	-0.172000	0.09868	1.100000	0.41517	-0.366000	0.07423	ACA		LRRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349170.1	NM_022143	
BRAF	673	hgsc.bcm.edu	37	7	140453155	140453155	+	Missense_Mutation	SNP	C	C	T	rs397516896		TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr7:140453155C>T	ENST00000288602.6	-	15	1840	c.1780G>A	c.(1780-1782)Gat>Aat	p.D594N		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	594	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> G (in NHL). {ECO:0000269|PubMed:14612909}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D594N(9)|p.D594H(2)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	AGACCAAAATCACCTATTTTT	0.378		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)			Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	11	Substitution - Missense(11)	skin(6)|large_intestine(2)|lung(2)|haematopoietic_and_lymphoid_tissue(1)	7											106.0	100.0	102.0					7																	140453155		2203	4300	6503	140099624	SO:0001583	missense	673	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1780G>A	7.37:g.140453155C>T	ENSP00000288602:p.Asp594Asn	Somatic		Capture	Illumina HiSeq	Phase_I	140099624	A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	CCDS5863.1	.	.	.	.	.	.	.	.	.	.	C	36	5.616687	0.96649	.	.	ENSG00000157764	ENST00000288602	D	0.99849	-7.15	5.65	5.65	0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.99883	0.9944	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.96728	0.9537	10	0.87932	D	0	.	19.7917	0.96461	0.0:1.0:0.0:0.0	.	594	P15056	BRAF_HUMAN	N	594	ENSP00000288602:D594N	ENSP00000288602:D594N	D	-	1	0	BRAF	140099624	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.702000	0.84576	2.686000	0.91538	0.650000	0.86243	GAT		BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	
AGK	55750	hgsc.bcm.edu	37	7	141321598	141321598	+	Silent	SNP	C	C	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr7:141321598C>A	ENST00000355413.4	+	9	845	c.585C>A	c.(583-585)atC>atA	p.I195I	AGK_ENST00000473247.1_Silent_p.I167I|AGK_ENST00000535825.1_Silent_p.I192I	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	195	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				ceramide biosynthetic process (GO:0046513)|glycerolipid metabolic process (GO:0046486)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	acylglycerol kinase activity (GO:0047620)|ATP binding (GO:0005524)|ceramide kinase activity (GO:0001729)|diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					TCTTGCAGATCAAGGTAAATC	0.318																																																	0			7											125.0	115.0	119.0					7																	141321598		2203	4300	6503	140968067	SO:0001819	synonymous_variant	55750			BC022777	CCDS5865.1	7q34	2010-05-04	2007-01-11	2007-01-11	ENSG00000006530	ENSG00000006530	2.7.1.94		21869	protein-coding gene	gene with protein product		610345	"""multiple substrate lipid kinase"""	MULK		15252046, 15939762, 17135245	Standard	NM_018238		Approved	FLJ10842	uc003vwi.2	Q53H12	OTTHUMG00000157499	ENST00000355413.4:c.585C>A	7.37:g.141321598C>A		Somatic		Capture	Illumina HiSeq	Phase_I	140968067	Q75KN1|Q96GC3|Q9NP48	Silent	SNP	ENST00000355413.4	37	CCDS5865.1																																																																																				AGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348969.1	NM_018238	
TRPV6	55503	hgsc.bcm.edu	37	7	142569702	142569702	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr7:142569702G>A	ENST00000359396.3	-	15	2181	c.1936C>T	c.(1936-1938)Cgc>Tgc	p.R646C		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	646					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TGTGCGTAGCGTTGGATCCGC	0.567																																																	0			7											123.0	114.0	117.0					7																	142569702		2203	4300	6503	142279824	SO:0001583	missense	55503			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.1936C>T	7.37:g.142569702G>A	ENSP00000352358:p.Arg646Cys	Somatic		Capture	Illumina HiSeq	Phase_I	142279824	A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Missense_Mutation	SNP	ENST00000359396.3	37	CCDS5874.1	.	.	.	.	.	.	.	.	.	.	G	24.5	4.540202	0.85917	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	T	0.47869	0.83	5.55	5.55	0.83447	.	0.125201	0.56097	D	0.000028	T	0.71913	0.3396	M	0.82823	2.61	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.75983	-0.3125	10	0.87932	D	0	-24.1221	16.6621	0.85243	0.0:0.0:1.0:0.0	.	646	Q9H1D0	TRPV6_HUMAN	C	646;478	ENSP00000352358:R646C	ENSP00000310825:R478C	R	-	1	0	TRPV6	142279824	1.000000	0.71417	0.959000	0.39883	0.742000	0.42306	3.877000	0.56123	2.622000	0.88805	0.561000	0.74099	CGC		TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347662.1	NM_014274	
TRPV5	56302	hgsc.bcm.edu	37	7	142622681	142622681	+	Silent	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr7:142622681A>G	ENST00000265310.1	-	8	1413	c.1065T>C	c.(1063-1065)cgT>cgC	p.R355R	TRPV5_ENST00000442623.1_Silent_p.R355R	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	355					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|ion transmembrane transport (GO:0034220)|protein tetramerization (GO:0051262)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GGTTGCCACCACGAAACTTAA	0.522																																																	0			7											122.0	107.0	112.0					7																	142622681		2203	4300	6503	142332803	SO:0001819	synonymous_variant	56302			AJ271207	CCDS5875.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000127412	ENSG00000127412		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	3145	protein-coding gene	gene with protein product		606679	"""epithelial calcium channel 1"""	ECAC1		10944439, 10945469, 16382100	Standard	NM_019841		Approved	CaT2	uc003wby.1	Q9NQA5	OTTHUMG00000157157	ENST00000265310.1:c.1065T>C	7.37:g.142622681A>G		Somatic		Capture	Illumina HiSeq	Phase_I	142332803	A4D2H7|E9PBZ6|Q8N4C1|Q8NDW5|Q8NDX7|Q8NDX8|Q96PM6	Silent	SNP	ENST00000265310.1	37	CCDS5875.1																																																																																				TRPV5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347660.1	NM_019841	
ABCB8	11194	hgsc.bcm.edu	37	7	150730984	150730984	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr7:150730984G>T	ENST00000297504.6	+	3	505	c.439G>T	c.(439-441)Gtc>Ttc	p.V147F	ABCB8_ENST00000477092.1_Missense_Mutation_p.V130F|ABCB8_ENST00000356058.4_Missense_Mutation_p.V167F|ABCB8_ENST00000493338.1_3'UTR|ABCB8_ENST00000498578.1_Missense_Mutation_p.V130F|ABCB8_ENST00000358849.4_Missense_Mutation_p.V130F|ABCB8_ENST00000542328.1_Intron|ABCB8_ENST00000477719.1_Missense_Mutation_p.V130F			Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	147					transmembrane transport (GO:0055085)|transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Doxorubicin(DB00997)	CCACCTGCTGGTCCTGGGGGT	0.627																																																	0			7											47.0	45.0	46.0					7																	150730984		2203	4300	6503	150361917	SO:0001583	missense	11194			AF047690	CCDS5913.1, CCDS64798.1, CCDS64799.1, CCDS64800.1	7q36.1	2012-05-16			ENSG00000197150	ENSG00000197150		"""ATP binding cassette transporters / subfamily B"""	49	protein-coding gene	gene with protein product	"""mitochondrial ABC protein"""	605464				8894702	Standard	NM_001282291		Approved	EST328128, M-ABC1, MABC1	uc003wik.4	Q9NUT2	OTTHUMG00000158686	ENST00000297504.6:c.439G>T	7.37:g.150730984G>T	ENSP00000297504:p.Val147Phe	Somatic		Capture	Illumina HiSeq	Phase_I	150361917	A5D8W3|B2RBL8|B3KND2|B4DG02|G3XAP3|O95787|Q53GM0	Missense_Mutation	SNP	ENST00000297504.6	37		.	.	.	.	.	.	.	.	.	.	G	8.037	0.763075	0.15914	.	.	ENSG00000197150	ENST00000358849;ENST00000360651;ENST00000297504;ENST00000498578;ENST00000356058;ENST00000477719;ENST00000477092	D;D;D;T;T;T	0.94457	-3.43;-3.43;-3.43;-1.37;-1.37;-1.37	4.18	-1.33	0.09172	ABC transporter, transmembrane domain, type 1 (1);	0.546488	0.19176	N	0.120801	D	0.83105	0.5182	N	0.08118	0	0.21697	N	0.999584	B;B;B;B;B	0.14438	0.003;0.003;0.002;0.01;0.01	B;B;B;B;B	0.29440	0.063;0.063;0.038;0.102;0.063	T	0.71708	-0.4511	10	0.09843	T	0.71	-0.8968	5.4438	0.16523	0.2704:0.4416:0.288:0.0	.	130;147;130;130;167	A5D8W3;Q9NUT2;Q9NUT2-2;C9JTY4;E7ENE8	.;ABCB8_HUMAN;.;.;.	F	130;113;147;130;167;130;130	ENSP00000351717:V130F;ENSP00000297504:V147F;ENSP00000418271:V130F;ENSP00000348353:V167F;ENSP00000419891:V130F;ENSP00000419558:V130F	ENSP00000297504:V147F	V	+	1	0	ABCB8	150361917	0.996000	0.38824	0.614000	0.29051	0.865000	0.49528	0.224000	0.17738	-0.386000	0.07821	0.561000	0.74099	GTC		ABCB8-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000351733.2	NM_007188	
KIF16B	55614	hgsc.bcm.edu	37	20	16360331	16360331	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr20:16360331C>A	ENST00000354981.2	-	19	2473	c.2316G>T	c.(2314-2316)aaG>aaT	p.K772N	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Missense_Mutation_p.K772N|KIF16B_ENST00000355755.3_Missense_Mutation_p.K772N	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	772	Glu-rich.		K -> T (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)	p.K772K(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCATCTCCTGCTTCTCTCGGA	0.567																																																	1	Substitution - coding silent(1)	prostate(1)	20											111.0	105.0	107.0					20																	16360331		2203	4300	6503	16308331	SO:0001583	missense	55614			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.2316G>T	20.37:g.16360331C>A	ENSP00000347076:p.Lys772Asn	Somatic		Capture	Illumina HiSeq	Phase_I	16308331	A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	ENST00000354981.2	37	CCDS13122.1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.185218	0.57909	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000408042	T;T;T	0.18502	2.21;2.21;2.21	5.51	3.36	0.38483	.	0.275521	0.40064	N	0.001182	T	0.23014	0.0556	L	0.60455	1.87	0.80722	D	1	P;P;P;P	0.51240	0.943;0.897;0.903;0.843	P;P;B;B	0.50590	0.629;0.645;0.407;0.231	T	0.01319	-1.1386	10	0.54805	T	0.06	.	6.7787	0.23634	0.0:0.6293:0.0:0.3707	.	772;772;772;772	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	N	772	ENSP00000347076:K772N;ENSP00000347995:K772N;ENSP00000384164:K772N	ENSP00000347076:K772N	K	-	3	2	KIF16B	16308331	0.999000	0.42202	0.967000	0.41034	0.893000	0.52053	0.649000	0.24843	1.334000	0.45468	0.585000	0.79938	AAG		KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078104.2	NM_017683	
ASXL1	171023	hgsc.bcm.edu	37	20	31023895	31023895	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr20:31023895A>G	ENST00000375687.4	+	13	3804	c.3380A>G	c.(3379-3381)gAt>gGt	p.D1127G	ASXL1_ENST00000306058.5_Missense_Mutation_p.D1122G	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1127					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CCAGCCCACGATGACAGCATG	0.532			"""F, N, Mis"""		"""MDS, CMML"""																																			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0			20											83.0	75.0	78.0					20																	31023895		2203	4300	6503	30487556	SO:0001583	missense	171023			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3380A>G	20.37:g.31023895A>G	ENSP00000364839:p.Asp1127Gly	Somatic		Capture	Illumina HiSeq	Phase_I	30487556	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	A	1.132	-0.652229	0.03480	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.14022	2.54;2.54	4.56	0.149	0.14863	.	1.245900	0.05131	N	0.492596	T	0.04452	0.0122	N	0.01267	-0.92	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39583	-0.9607	10	0.12766	T	0.61	0.5888	6.7275	0.23365	0.076:0.4694:0.335:0.1196	.	1122;1127	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	G	1127;1127;1127;1048;1122	ENSP00000364839:D1127G;ENSP00000305119:D1122G	ENSP00000305119:D1122G	D	+	2	0	ASXL1	30487556	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.322000	0.19576	0.071000	0.16664	-1.251000	0.01509	GAT		ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338	
CDH22	64405	hgsc.bcm.edu	37	20	44869782	44869782	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr20:44869782G>T	ENST00000372262.3	-	2	770	c.370C>A	c.(370-372)Cgc>Agc	p.R124S	CDH22_ENST00000537909.1_Missense_Mutation_p.R124S	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	124	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				brain development (GO:0007420)|calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CGGTCCAGGCGCTCCATGGCA	0.617																																																	0			20											79.0	67.0	71.0					20																	44869782		2203	4300	6503	44303189	SO:0001583	missense	64405			AF035300	CCDS13395.1	20q13.1	2010-01-26	2009-11-20		ENSG00000149654	ENSG00000149654		"""Cadherins / Major cadherins"""	13251	protein-coding gene	gene with protein product		609920	"""cadherin-like 22"""	C20orf25		8626716	Standard	NM_021248		Approved	dJ998H6.1	uc010ghk.2	Q9UJ99	OTTHUMG00000033073	ENST00000372262.3:c.370C>A	20.37:g.44869782G>T	ENSP00000361336:p.Arg124Ser	Somatic		Capture	Illumina HiSeq	Phase_I	44303189	B9EGK7|O43205	Missense_Mutation	SNP	ENST00000372262.3	37	CCDS13395.1	.	.	.	.	.	.	.	.	.	.	G	16.23	3.065581	0.55539	.	.	ENSG00000149654	ENST00000372262;ENST00000537909	T;T	0.52057	0.68;0.68	4.21	4.21	0.49690	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.49338	0.1551	N	0.12887	0.27	0.48632	D	0.999687	D	0.89917	1.0	D	0.87578	0.998	T	0.48281	-0.9049	10	0.24483	T	0.36	.	16.127	0.81402	0.0:0.0:1.0:0.0	.	124	Q9UJ99	CAD22_HUMAN	S	124	ENSP00000361336:R124S;ENSP00000437790:R124S	ENSP00000361336:R124S	R	-	1	0	CDH22	44303189	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.917000	0.48821	2.364000	0.80123	0.455000	0.32223	CGC		CDH22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080491.1	NM_021248	
EYA2	2139	hgsc.bcm.edu	37	20	45725728	45725728	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr20:45725728T>C	ENST00000327619.5	+	9	1183	c.809T>C	c.(808-810)gTg>gCg	p.V270A	EYA2_ENST00000357410.3_Missense_Mutation_p.V270A|EYA2_ENST00000317304.6_Missense_Mutation_p.V270A	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	270					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TCACAGCGTGTGTTCGTGTGG	0.423																																					Pancreas(120;56 1725 18501 25218 43520)												0			20											244.0	221.0	229.0					20																	45725728		2203	4300	6503	45159135	SO:0001583	missense	2139				CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.809T>C	20.37:g.45725728T>C	ENSP00000333640:p.Val270Ala	Somatic		Capture	Illumina HiSeq	Phase_I	45159135	Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	ENST00000327619.5	37	CCDS13403.1	.	.	.	.	.	.	.	.	.	.	T	13.81	2.346896	0.41599	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304;ENST00000458636	D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82	5.67	5.67	0.87782	EYA (1);Haloacid dehalogenase-like hydrolase (1);	0.000000	0.85682	D	0.000000	D	0.92014	0.7470	M	0.76727	2.345	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;1.0	D;D;D;D	0.91635	0.998;0.994;0.999;0.999	D	0.92920	0.6354	10	0.87932	D	0	-1.2596	15.9204	0.79562	0.0:0.0:0.0:1.0	.	270;270;270;270	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	A	270;270;270;270;141	ENSP00000333640:V270A;ENSP00000349986:V270A;ENSP00000321590:V270A;ENSP00000395427:V141A	ENSP00000321590:V270A	V	+	2	0	EYA2	45159135	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.244000	0.78228	2.164000	0.68074	0.533000	0.62120	GTG		EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080326.2	NM_005244	
B4GALT5	9334	hgsc.bcm.edu	37	20	48263529	48263529	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr20:48263529T>C	ENST00000371711.4	-	3	524	c.337A>G	c.(337-339)Acc>Gcc	p.T113A		NM_004776.3	NP_004767.1	O43286	B4GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 5	113					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)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	galactosyltransferase activity (GO:0008378)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20			BRCA - Breast invasive adenocarcinoma(9;2.51e-06)			TCAGGGCAGGTATGGTTTGCA	0.453																																																	0			20											203.0	186.0	192.0					20																	48263529		2203	4300	6503	47696936	SO:0001583	missense	9334			AB004550	CCDS13420.1	20q13.1-q13.2	2013-02-19			ENSG00000158470	ENSG00000158470		"""Beta 4-glycosyltransferases"""	928	protein-coding gene	gene with protein product	"""beta4-GalT IV"""	604016				9597550, 9435216	Standard	NM_004776		Approved	beta4GalT-V	uc002xuu.4	O43286	OTTHUMG00000033086	ENST00000371711.4:c.337A>G	20.37:g.48263529T>C	ENSP00000360776:p.Thr113Ala	Somatic		Capture	Illumina HiSeq	Phase_I	47696936	E1P625|Q2M394|Q9UJQ8	Missense_Mutation	SNP	ENST00000371711.4	37	CCDS13420.1	.	.	.	.	.	.	.	.	.	.	T	10.96	1.498439	0.26861	.	.	ENSG00000158470	ENST00000371711	T	0.34072	1.38	5.45	4.36	0.52297	.	0.152267	0.64402	D	0.000012	T	0.21145	0.0509	N	0.25647	0.755	0.26405	N	0.976358	B	0.02656	0.0	B	0.04013	0.001	T	0.22382	-1.0218	10	0.11794	T	0.64	-11.0264	7.5831	0.27976	0.1268:0.0:0.1716:0.7015	.	113	O43286	B4GT5_HUMAN	A	113	ENSP00000360776:T113A	ENSP00000360776:T113A	T	-	1	0	B4GALT5	47696936	0.838000	0.29461	0.993000	0.49108	0.988000	0.76386	1.029000	0.30140	1.055000	0.40461	0.528000	0.53228	ACC		B4GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080543.3	NM_004776	
RTFDC1	51507	hgsc.bcm.edu	37	20	55088412	55088412	+	Silent	SNP	T	T	C			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr20:55088412T>C	ENST00000023939.4	+	6	626	c.519T>C	c.(517-519)aaT>aaC	p.N173N	GCNT7_ENST00000243913.4_Intron|RTFDC1_ENST00000357348.5_Silent_p.N203N|RTFDC1_ENST00000395881.3_Silent_p.N173N	NM_001283035.1|NM_001283036.1|NM_016407.3	NP_001269964.1|NP_001269965.1|NP_057491.2	Q9BY42	RTF2_HUMAN	replication termination factor 2 domain containing 1	173																	TCATGCTCAATGGCACCAAGG	0.557																																																	0			20											146.0	88.0	108.0					20																	55088412		2203	4300	6503	54521819	SO:0001819	synonymous_variant	51507			AF161513	CCDS13453.1, CCDS63316.1, CCDS63317.1	20q13	2012-10-29	2012-10-29	2012-10-29	ENSG00000022277	ENSG00000022277			15890	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 43"""	C20orf43			Standard	NM_001283035		Approved	HSPC164, CDAO5	uc002xxt.2	Q9BY42	OTTHUMG00000032801	ENST00000023939.4:c.519T>C	20.37:g.55088412T>C		Somatic		Capture	Illumina HiSeq	Phase_I	54521819	E1P5Z9|Q9BYL7|Q9HCV9|Q9NX29|Q9NZZ8|Q9P002|Q9UHW3	Silent	SNP	ENST00000023939.4	37	CCDS13453.1																																																																																				RTFDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079817.2	NM_016407	
YWHAH	7533	hgsc.bcm.edu	37	22	32352209	32352209	+	Silent	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr22:32352209A>G	ENST00000248975.5	+	2	444	c.171A>G	c.(169-171)cgA>cgG	p.R57R	YWHAH_ENST00000397492.1_3'UTR|YWHAH_ENST00000471374.1_3'UTR|snoU13_ENST00000459049.1_RNA	NM_003405.3	NP_003396.1	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta	57		Interaction with phosphoserine on interacting protein.			apoptotic process (GO:0006915)|glucocorticoid catabolic process (GO:0006713)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular protein transport (GO:0006886)|intrinsic apoptotic signaling pathway (GO:0097193)|membrane depolarization during action potential (GO:0086010)|membrane organization (GO:0061024)|negative regulation of dendrite morphogenesis (GO:0050774)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|regulation of sodium ion transmembrane transporter activity (GO:2000649)|regulation of sodium ion transport (GO:0002028)|regulation of synaptic plasticity (GO:0048167)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intercalated disc (GO:0014704)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|glucocorticoid receptor binding (GO:0035259)|insulin-like growth factor receptor binding (GO:0005159)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						GTGCCAGGCGATCTTCCTGGA	0.458																																					Ovarian(98;460 2060 9263 44007)												0			22											96.0	88.0	90.0					22																	32352209		2203	4300	6503	30682209	SO:0001819	synonymous_variant	7533			X78138	CCDS13901.1	22q12.1-q13.1	2013-12-03	2013-12-03		ENSG00000128245	ENSG00000128245			12853	protein-coding gene	gene with protein product	"""14-3-3 eta"""	113508	"""tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide"""	YWHA1			Standard	NM_003405		Approved		uc003alz.3	Q04917	OTTHUMG00000030833	ENST00000248975.5:c.171A>G	22.37:g.32352209A>G		Somatic		Capture	Illumina HiSeq	Phase_I	30682209		Silent	SNP	ENST00000248975.5	37	CCDS13901.1																																																																																				YWHAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075721.2	NM_003405	
EP300	2033	hgsc.bcm.edu	37	22	41523526	41523526	+	Silent	SNP	C	C	T	rs20553	byFrequency	TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr22:41523526C>T	ENST00000263253.7	+	4	2161	c.942C>T	c.(940-942)ggC>ggT	p.G314G		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	314					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						AGCAGCCAGGCCTGGTGACTC	0.483			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome				C|||	109	0.0217652	0.0794	0.0058	5008	,	,		19349	0.0		0.0	False		,,,				2504	0.0							Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0			22						C		265,4141	148.4+/-182.8	11,243,1949	73.0	78.0	77.0		942	3.8	1.0	22	dbSNP_67	77	1,8599		0,1,4299	no	coding-synonymous	EP300	NM_001429.3		11,244,6248	TT,TC,CC		0.0116,6.0145,2.0452		314/2415	41523526	266,12740	2203	4300	6503	39853472	SO:0001819	synonymous_variant	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.942C>T	22.37:g.41523526C>T		Somatic		Capture	Illumina HiSeq	Phase_I	39853472	B1AKC2	Silent	SNP	ENST00000263253.7	37	CCDS14010.1																																																																																				EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429	
BRD1	23774	hgsc.bcm.edu	37	22	50169244	50169244	+	Missense_Mutation	SNP	T	T	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr22:50169244T>A	ENST00000216267.8	-	11	3474	c.2988A>T	c.(2986-2988)agA>agT	p.R996S	BRD1_ENST00000404760.1_Missense_Mutation_p.R1127S|BRD1_ENST00000457780.2_3'UTR|BRD1_ENST00000404034.1_Missense_Mutation_p.R996S|BRD1_ENST00000342989.5_Missense_Mutation_p.R722S|BRD1_ENST00000542442.1_Missense_Mutation_p.R684S	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	996	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTCACCAACTTCTCTTATTAT	0.577																																																	0			22											103.0	120.0	114.0					22																	50169244		2203	4300	6503	48555248	SO:0001583	missense	23774			AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.2988A>T	22.37:g.50169244T>A	ENSP00000216267:p.Arg996Ser	Somatic		Capture	Illumina HiSeq	Phase_I	48555248	A6ZJA4	Missense_Mutation	SNP	ENST00000216267.8	37	CCDS14080.1	.	.	.	.	.	.	.	.	.	.	T	18.22	3.574718	0.65878	.	.	ENSG00000100425	ENST00000216267;ENST00000404034;ENST00000404760;ENST00000542442;ENST00000342989;ENST00000419212	T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71	4.84	-9.36	0.00629	PWWP (3);	0.000000	0.85682	D	0.000000	T	0.44623	0.1302	M	0.80982	2.52	0.80722	D	1	D;D;D;D	0.76494	0.993;0.998;0.999;0.992	D;D;D;P	0.80764	0.909;0.909;0.994;0.853	T	0.72459	-0.4287	10	0.40728	T	0.16	.	17.6335	0.88115	0.0:0.6377:0.0:0.3623	.	1127;722;996;1127	Q86X06;B7Z926;O95696;O95696-2	.;.;BRD1_HUMAN;.	S	996;996;1127;684;722;587	ENSP00000216267:R996S;ENSP00000384076:R996S;ENSP00000385858:R1127S;ENSP00000437514:R684S;ENSP00000345886:R722S	ENSP00000216267:R996S	R	-	3	2	BRD1	48555248	0.882000	0.30256	0.659000	0.29680	0.963000	0.63663	-0.111000	0.10807	-2.028000	0.00931	0.482000	0.46254	AGA		BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577	
RNASE3	6037	hgsc.bcm.edu	37	14	21360033	21360033	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr14:21360033G>A	ENST00000304639.3	+	2	246	c.188G>A	c.(187-189)cGt>cAt	p.R63H		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	63	Required for nearly all of the bactericidal activity; partially involved in LPS-binding and bacterial membrane depolarization.				antibacterial humoral response (GO:0019731)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	TATCGATGGCGTTGCAAAAAC	0.438																																																	0			14											124.0	126.0	125.0					14																	21360033		2191	4300	6491	20429873	SO:0001583	missense	6037			X55990	CCDS9560.1	14q11.2	2014-03-13	2010-05-07		ENSG00000169397	ENSG00000169397	3.1.27.-	"""Ribonucleases, RNase A"""	10046	protein-coding gene	gene with protein product	"""eosinophil cationic protein"""	131398		RNS3		1577491	Standard	NM_002935		Approved	ECP	uc001vyj.3	P12724	OTTHUMG00000029604	ENST00000304639.3:c.188G>A	14.37:g.21360033G>A	ENSP00000302324:p.Arg63His	Somatic		Capture	Illumina HiSeq	Phase_I	20429873	Q4VBC1|Q8WTP7|Q8WZ62|Q9GZN9	Missense_Mutation	SNP	ENST00000304639.3	37	CCDS9560.1	.	.	.	.	.	.	.	.	.	.	g	0.431	-0.903137	0.02453	.	.	ENSG00000169397	ENST00000304639	T	0.74002	-0.8	2.44	-4.89	0.03103	Ribonuclease A, domain (4);	3.170440	0.02219	U	0.063891	T	0.61986	0.2391	L	0.48174	1.505	0.09310	N	1	B	0.24258	0.1	B	0.23419	0.046	T	0.42137	-0.9469	10	0.26408	T	0.33	.	1.418	0.02306	0.1887:0.1296:0.3979:0.2838	.	63	P12724	ECP_HUMAN	H	63	ENSP00000302324:R63H	ENSP00000302324:R63H	R	+	2	0	RNASE3	20429873	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.754000	0.01816	-2.841000	0.00335	-0.311000	0.09066	CGT		RNASE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073795.2	NM_002935	
MIA2	117153	hgsc.bcm.edu	37	14	39703358	39703358	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr14:39703358A>G	ENST00000280082.3	+	1	239	c.40A>G	c.(40-42)Att>Gtt	p.I14V	MIA2_ENST00000556784.1_Missense_Mutation_p.I14V|RP11-407N17.3_ENST00000553728.1_Missense_Mutation_p.I14V	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	14					cholesterol homeostasis (GO:0042632)|triglyceride homeostasis (GO:0070328)	endoplasmic reticulum exit site (GO:0070971)|extracellular region (GO:0005576)				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TCTTCTGGCTATTTCTCTGAC	0.433																																																	0			14											107.0	102.0	104.0					14																	39703358		2203	4300	6503	38773109	SO:0001583	missense	117153			BC035981	CCDS9672.1	14q13.2	2007-05-01			ENSG00000150526	ENSG00000150526			18432	protein-coding gene	gene with protein product		608001				12586826	Standard	NM_054024		Approved	FLJ22404	uc001wux.3	Q96PC5	OTTHUMG00000028831	ENST00000280082.3:c.40A>G	14.37:g.39703358A>G	ENSP00000280082:p.Ile14Val	Somatic		Capture	Illumina HiSeq	Phase_I	38773109	A1L4H0|Q9H6C1	Missense_Mutation	SNP	ENST00000280082.3	37	CCDS9672.1	.	.	.	.	.	.	.	.	.	.	A	7.586	0.669850	0.14776	.	.	ENSG00000150526;ENSG00000150526;ENSG00000150526;ENSG00000150526;ENSG00000258941	ENST00000557148;ENST00000555143;ENST00000280082;ENST00000556784;ENST00000553728	T;T;T;T;T	0.45276	1.05;1.01;0.9;0.92;3.28	5.5	-0.0931	0.13652	.	0.389260	0.18870	N	0.128871	T	0.31040	0.0784	M	0.67953	2.075	0.18873	N	0.999982	B	0.23377	0.084	B	0.20184	0.028	T	0.22103	-1.0226	9	.	.	.	-14.7284	0.5314	0.00629	0.3895:0.2387:0.1576:0.2142	.	14	Q96PC5-2	.	V	14	ENSP00000451883:I14V;ENSP00000451217:I14V;ENSP00000280082:I14V;ENSP00000451934:I14V;ENSP00000452252:I14V	.	I	+	1	0	MIA2;RP11-407N17.3	38773109	0.905000	0.30787	0.891000	0.34965	0.314000	0.28054	0.214000	0.17541	-0.175000	0.10725	-0.341000	0.08007	ATT		MIA2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276768.3	NM_054024	
NID2	22795	hgsc.bcm.edu	37	14	52481904	52481904	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr14:52481904C>T	ENST00000216286.5	-	15	3117	c.3118G>A	c.(3118-3120)Gtg>Atg	p.V1040M	NID2_ENST00000541773.1_Missense_Mutation_p.V939M	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1040	Thyroglobulin type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00500}.				basement membrane organization (GO:0071711)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|cell surface (GO:0009986)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CACTGGGGCACGTACTGGTCA	0.632																																																	0			14											57.0	51.0	53.0					14																	52481904		2203	4300	6503	51551654	SO:0001583	missense	22795			AB009799	CCDS9706.1	14q22.1	2008-05-14			ENSG00000087303	ENSG00000087303			13389	protein-coding gene	gene with protein product		605399				9733643	Standard	NM_007361		Approved		uc001wzo.3	Q14112	OTTHUMG00000140298	ENST00000216286.5:c.3118G>A	14.37:g.52481904C>T	ENSP00000216286:p.Val1040Met	Somatic		Capture	Illumina HiSeq	Phase_I	51551654	A8K6I7|B4DU19|O43710	Missense_Mutation	SNP	ENST00000216286.5	37	CCDS9706.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.04|18.04	3.534523|3.534523	0.64972|0.64972	.|.	.|.	ENSG00000087303|ENSG00000087303	ENST00000556572|ENST00000216286;ENST00000316204;ENST00000541773;ENST00000395707	.|T;T	.|0.66460	.|-0.21;-0.21	5.67|5.67	4.76|4.76	0.60689|0.60689	.|Thyroglobulin type-1 (6);	.|0.307436	.|0.35870	.|N	.|0.002936	T|T	0.80747|0.80747	0.4682|0.4682	M|M	0.74389|0.74389	2.26|2.26	0.32173|0.32173	N|N	0.581438|0.581438	.|D;D;D;D	.|0.89917	.|0.977;1.0;1.0;0.997	.|P;D;D;P	.|0.91635	.|0.73;0.999;0.993;0.876	D|D	0.83392|0.83392	0.0018|0.0018	5|10	.|0.31617	.|T	.|0.26	.|.	16.0582|16.0582	0.80820|0.80820	0.0:0.8654:0.1346:0.0|0.0:0.8654:0.1346:0.0	.|.	.|634;939;1042;1040	.|E7EPP3;Q14112-2;Q5CZI2;Q14112	.|.;.;.;NID2_HUMAN	H|M	308|1040;634;939;1042	.|ENSP00000216286:V1040M;ENSP00000443730:V939M	.|ENSP00000216286:V1040M	R|V	-|-	2|1	0|0	NID2|NID2	51551654|51551654	0.263000|0.263000	0.24083|0.24083	0.986000|0.986000	0.45419|0.45419	0.978000|0.978000	0.69477|0.69477	0.791000|0.791000	0.26915|0.26915	1.342000|1.342000	0.45619|0.45619	0.655000|0.655000	0.94253|0.94253	CGT|GTG		NID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276888.1		
KTN1	3895	hgsc.bcm.edu	37	14	56119764	56119764	+	Silent	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr14:56119764A>G	ENST00000395314.3	+	27	2792	c.2724A>G	c.(2722-2724)aaA>aaG	p.K908K	KTN1_ENST00000413890.2_Silent_p.K885K|KTN1_ENST00000438792.2_Silent_p.K908K|Y_RNA_ENST00000363872.1_RNA|KTN1_ENST00000395311.1_Silent_p.K885K|KTN1_ENST00000554507.1_Silent_p.K203K|KTN1_ENST00000395308.1_Silent_p.K885K|KTN1_ENST00000416613.1_Silent_p.K908K|KTN1_ENST00000395309.3_Silent_p.K908K	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	908					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						AATCTTTAAAAGCACATGTTC	0.259			T	RET	papillary thryoid																																			Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	0			14											338.0	363.0	355.0					14																	56119764		2201	4293	6494	55189517	SO:0001819	synonymous_variant	3895				CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.2724A>G	14.37:g.56119764A>G		Somatic		Capture	Illumina HiSeq	Phase_I	55189517	B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Silent	SNP	ENST00000395314.3	37	CCDS41957.1																																																																																				KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2		
GPHB5	122876	hgsc.bcm.edu	37	14	63784405	63784405	+	RNA	SNP	G	G	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr14:63784405G>A	ENST00000539258.1	-	0	215							Q86YW7	GPHB5_HUMAN	glycoprotein hormone beta 5						regulation of thyroid hormone mediated signaling pathway (GO:0002155)	extracellular region (GO:0005576)		p.R53W(1)		breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(108;0.00372)|all cancers(60;0.0226)|BRCA - Breast invasive adenocarcinoma(234;0.0978)		GTGGTGATCCGAAGCCCCTGC	0.602																																																	1	Substitution - Missense(1)	breast(1)	14											41.0	44.0	43.0					14																	63784405		2022	4178	6200	62854158			122876			AF467770	CCDS73643.1	14q23.3	2006-09-25				ENSG00000179600			18055	protein-coding gene	gene with protein product		609652					Standard	NM_145171		Approved	ZLUT1, GPB5	uc021rud.1	Q86YW7			14.37:g.63784405G>A		Somatic		Capture	Illumina HiSeq	Phase_I	62854158	Q6NTD0|Q8NFW2	Silent	SNP	ENST00000539258.1	37																																																																																					GPHB5-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000400582.1	NM_145171	
PLEKHD1	400224	hgsc.bcm.edu	37	14	69993998	69993998	+	Missense_Mutation	SNP	C	C	T	rs367823911		TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr14:69993998C>T	ENST00000322564.7	+	11	1362	c.1150C>T	c.(1150-1152)Cgg>Tgg	p.R384W		NM_001161498.1	NP_001154970.1	A6NEE1	PLHD1_HUMAN	pleckstrin homology domain containing, family D (with coiled-coil domains) member 1	384										breast(1)|endometrium(1)|kidney(2)	4						TTCCAAGGTGCGGAATAAGGA	0.612																																																	0			14						C	TRP/ARG	0,1384		0,0,692	37.0	41.0	40.0		1150	5.2	1.0	14		40	1,3181		0,1,1590	no	missense	PLEKHD1	NM_001161498.1	101	0,1,2282	TT,TC,CC		0.0314,0.0,0.0219	probably-damaging	384/507	69993998	1,4565	692	1591	2283	69063751	SO:0001583	missense	0			AK126770	CCDS53903.1	14q24.1	2013-01-10	2011-05-04		ENSG00000175985	ENSG00000175985		"""Pleckstrin homology (PH) domain containing"""	20148	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family D (with M protein repeats) member 1"""				Standard	NM_001161498		Approved	UPF0639	uc010ttf.1	A6NEE1		ENST00000322564.7:c.1150C>T	14.37:g.69993998C>T	ENSP00000317175:p.Arg384Trp	Somatic		Capture	Illumina HiSeq	Phase_I	69063751	B9EJC2	Missense_Mutation	SNP	ENST00000322564.7	37	CCDS53903.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017339	0.75161	0.0	3.14E-4	ENSG00000175985	ENST00000322564	T	0.79749	-1.3	5.24	5.24	0.73138	.	0.000000	0.64402	D	0.000001	T	0.76615	0.4012	L	0.27053	0.805	0.39271	D	0.964392	D	0.76494	0.999	P	0.54590	0.756	T	0.75764	-0.3203	9	.	.	.	-30.305	9.3722	0.38261	0.143:0.7825:0.0:0.0745	.	384	B9EJC2	.	W	384	ENSP00000317175:R384W	.	R	+	1	2	PLEKHD1	69063751	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.013000	0.40942	2.598000	0.87819	0.462000	0.41574	CGG		PLEKHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412451.2	NM_001161498	
PSEN1	5663	hgsc.bcm.edu	37	14	73637706	73637706	+	Missense_Mutation	SNP	G	G	A	rs63750852		TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr14:73637706G>A	ENST00000324501.5	+	4	561	c.289G>A	c.(289-291)Gtg>Atg	p.V97M	PSEN1_ENST00000357710.4_Missense_Mutation_p.V93M|PSEN1_ENST00000394157.3_Missense_Mutation_p.V97M|PSEN1_ENST00000557511.1_Missense_Mutation_p.V97M|PSEN1_ENST00000394164.1_Missense_Mutation_p.V93M|PSEN1_ENST00000406768.1_Missense_Mutation_p.V5M|PSEN1_ENST00000261970.3_Missense_Mutation_p.V97M|PSEN1_ENST00000344094.3_Missense_Mutation_p.V97M	NM_000021.3|NM_007318.2	NP_000012.1|NP_015557.2	P49768	PSN1_HUMAN	presenilin 1	97	Poly-Val.				activation of MAPKK activity (GO:0000186)|amyloid precursor protein catabolic process (GO:0042987)|anagen (GO:0042640)|autophagic vacuole assembly (GO:0000045)|beta-amyloid formation (GO:0034205)|beta-amyloid metabolic process (GO:0050435)|blood vessel development (GO:0001568)|brain morphogenesis (GO:0048854)|Cajal-Retzius cell differentiation (GO:0021870)|calcium ion transmembrane transport (GO:0070588)|canonical Wnt signaling pathway (GO:0060070)|cell fate specification (GO:0001708)|cellular response to DNA damage stimulus (GO:0006974)|cerebral cortex cell migration (GO:0021795)|choline transport (GO:0015871)|dorsal/ventral neural tube patterning (GO:0021904)|embryonic limb morphogenesis (GO:0030326)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|hematopoietic progenitor cell differentiation (GO:0002244)|intracellular signal transduction (GO:0035556)|L-glutamate transport (GO:0015813)|membrane protein ectodomain proteolysis (GO:0006509)|memory (GO:0007613)|mitochondrial transport (GO:0006839)|myeloid leukocyte differentiation (GO:0002573)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of axonogenesis (GO:0050771)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein transferase activity (GO:0051444)|neuron apoptotic process (GO:0051402)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|positive regulation of coagulation (GO:0050820)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of receptor recycling (GO:0001921)|post-embryonic development (GO:0009791)|protein glycosylation (GO:0006486)|protein processing (GO:0016485)|protein transport (GO:0015031)|regulation of phosphorylation (GO:0042325)|regulation of protein binding (GO:0043393)|regulation of resting membrane potential (GO:0060075)|regulation of synaptic plasticity (GO:0048167)|regulation of synaptic transmission, glutamatergic (GO:0051966)|response to oxidative stress (GO:0006979)|single organismal cell-cell adhesion (GO:0016337)|skeletal system morphogenesis (GO:0048705)|skin morphogenesis (GO:0043589)|smooth endoplasmic reticulum calcium ion homeostasis (GO:0051563)|somitogenesis (GO:0001756)|synaptic vesicle targeting (GO:0016080)|T cell activation involved in immune response (GO:0002286)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cell cortex (GO:0005938)|cell surface (GO:0009986)|centrosome (GO:0005813)|ciliary rootlet (GO:0035253)|cytoplasmic vesicle (GO:0031410)|dendritic shaft (GO:0043198)|endoplasmic reticulum (GO:0005783)|gamma-secretase complex (GO:0070765)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|kinetochore (GO:0000776)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nuclear outer membrane (GO:0005640)|perinuclear region of cytoplasm (GO:0048471)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	aspartic-type endopeptidase activity (GO:0004190)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|calcium channel activity (GO:0005262)|endopeptidase activity (GO:0004175)|PDZ domain binding (GO:0030165)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		GGTGGTGGTCGTGGCTACCAT	0.458																																																	0			14	GRCh37	CM056038	PSEN1	M	rs63750852						134.0	113.0	120.0					14																	73637706		2203	4300	6503	72707459	SO:0001583	missense	5663			AJ008005	CCDS9812.1, CCDS9813.1	14q24.3	2014-09-17	2008-07-28		ENSG00000080815	ENSG00000080815			9508	protein-coding gene	gene with protein product		104311	"""Alzheimer disease 3"""	AD3		1411576	Standard	NM_007318		Approved	FAD, S182, PS1	uc001xnr.3	P49768	OTTHUMG00000141279	ENST00000324501.5:c.289G>A	14.37:g.73637706G>A	ENSP00000326366:p.Val97Met	Somatic		Capture	Illumina HiSeq	Phase_I	72707459	B2R6D3|O95465|Q14762|Q15719|Q15720|Q96P33|Q9UIF0	Missense_Mutation	SNP	ENST00000324501.5	37	CCDS9812.1	.	.	.	.	.	.	.	.	.	.	G	32	5.181027	0.94846	.	.	ENSG00000080815	ENST00000557356;ENST00000557293;ENST00000553719;ENST00000394157;ENST00000324501;ENST00000357710;ENST00000555254;ENST00000261970;ENST00000344094;ENST00000554131;ENST00000394164;ENST00000557511;ENST00000406768	D;D;D;D;D;D;D;D;D;D;D;D;D	0.99698	-6.44;-6.44;-6.44;-6.44;-6.44;-6.44;-6.44;-6.44;-6.44;-6.44;-6.44;-6.44;-6.44	5.15	5.15	0.70609	.	0.000000	0.85682	D	0.000000	D	0.99813	0.9918	H	0.94886	3.595	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.999;1.0	D	0.97037	0.9754	10	0.87932	D	0	-16.732	18.8208	0.92096	0.0:0.0:1.0:0.0	.	93;97;97	P49768-2;P49768;P49768-4	.;PSN1_HUMAN;.	M	93;97;93;97;97;93;97;97;97;97;93;97;5	ENSP00000451498:V93M;ENSP00000451880:V97M;ENSP00000451674:V93M;ENSP00000377712:V97M;ENSP00000326366:V97M;ENSP00000350342:V93M;ENSP00000450652:V97M;ENSP00000261970:V97M;ENSP00000339523:V97M;ENSP00000451915:V97M;ENSP00000377719:V93M;ENSP00000451429:V97M;ENSP00000385948:V5M	ENSP00000261970:V97M	V	+	1	0	PSEN1	72707459	1.000000	0.71417	0.995000	0.50966	0.918000	0.54935	9.657000	0.98554	2.676000	0.91093	0.563000	0.77884	GTG		PSEN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280500.2		
TRIP11	9321	hgsc.bcm.edu	37	14	92472683	92472683	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr14:92472683A>G	ENST00000267622.4	-	11	2010	c.1637T>C	c.(1636-1638)cTt>cCt	p.L546P		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	546					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		ATCATCTTCAAGTTGATGAAC	0.308			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)			Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0			14											82.0	78.0	79.0					14																	92472683		2202	4296	6498	91542436	SO:0001583	missense	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.1637T>C	14.37:g.92472683A>G	ENSP00000267622:p.Leu546Pro	Somatic		Capture	Illumina HiSeq	Phase_I	91542436	B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	ENST00000267622.4	37	CCDS9899.1	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506183	0.44558	.	.	ENSG00000100815	ENST00000267622;ENST00000542257	T	0.09073	3.02	6.16	6.16	0.99307	.	0.219434	0.37437	N	0.002088	T	0.27798	0.0684	M	0.74881	2.28	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.976;0.998	T	0.01084	-1.1457	10	0.72032	D	0.01	.	11.0377	0.47811	0.9314:0.0:0.0686:0.0	.	282;546	F5H1Z0;Q15643	.;TRIPB_HUMAN	P	546;282	ENSP00000267622:L546P	ENSP00000267622:L546P	L	-	2	0	TRIP11	91542436	0.829000	0.29322	0.634000	0.29324	0.273000	0.26683	2.406000	0.44557	2.367000	0.80283	0.528000	0.53228	CTT		TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411823.1		
RIN3	79890	hgsc.bcm.edu	37	14	93118468	93118468	+	Silent	SNP	G	G	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr14:93118468G>A	ENST00000216487.7	+	6	1233	c.1074G>A	c.(1072-1074)gcG>gcA	p.A358A	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	358	Pro-rich.				endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|signal transduction (GO:0007165)	cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)	GTPase activator activity (GO:0005096)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GGGAGGAAGCGATGAAGCCAG	0.677																																																	0			14											27.0	28.0	28.0					14																	93118468		2168	4257	6425	92188221	SO:0001819	synonymous_variant	79890			BC025248	CCDS32144.1	14q32.13	2008-08-29				ENSG00000100599			18751	protein-coding gene	gene with protein product		610223				11733506	Standard	NM_024832		Approved	FLJ22439	uc001yap.3	Q8TB24		ENST00000216487.7:c.1074G>A	14.37:g.93118468G>A		Somatic		Capture	Illumina HiSeq	Phase_I	92188221	Q76LB3|Q8NF30|Q8TEE8|Q8WYP4|Q9H6A5|Q9HAG1	Silent	SNP	ENST00000216487.7	37	CCDS32144.1																																																																																				RIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412269.1		
BDKRB1	623	hgsc.bcm.edu	37	14	96730615	96730615	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr14:96730615A>G	ENST00000216629.6	+	3	1202	c.596A>G	c.(595-597)cAc>cGc	p.H199R	BDKRB1_ENST00000553356.1_Missense_Mutation_p.H199R|RP11-404P21.3_ENST00000553638.1_RNA	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	199					cell migration (GO:0016477)|inflammatory response (GO:0006954)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell growth (GO:0030308)|negative regulation of protein phosphorylation (GO:0001933)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	bradykinin receptor activity (GO:0004947)|peptide binding (GO:0042277)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		GAGGCCTGGCACTTTGCAAGG	0.567																																																	0			14											86.0	78.0	81.0					14																	96730615		2203	4300	6503	95800368	SO:0001583	missense	623			L42383	CCDS9943.1	14q32.1-q32.2	2012-08-08				ENSG00000100739		"""GPCR / Class A : Bradykinin receptors"""	1029	protein-coding gene	gene with protein product		600337				8808279	Standard	NM_000710		Approved	BKR1, B1BKR, bradyb1	uc001yfh.3	P46663		ENST00000216629.6:c.596A>G	14.37:g.96730615A>G	ENSP00000216629:p.His199Arg	Somatic		Capture	Illumina HiSeq	Phase_I	95800368	A8K7F5|Q546S7|Q8N0Y8	Missense_Mutation	SNP	ENST00000216629.6	37	CCDS9943.1	.	.	.	.	.	.	.	.	.	.	A	0.137	-1.107085	0.01813	.	.	ENSG00000100739	ENST00000216629;ENST00000553356	T;T	0.36520	1.25;1.25	4.95	2.49	0.30216	GPCR, rhodopsin-like superfamily (1);	0.852869	0.10393	U	0.680207	T	0.12646	0.0307	N	0.02412	-0.56	0.09310	N	0.999994	B;B	0.17465	0.022;0.005	B;B	0.15052	0.01;0.012	T	0.31194	-0.9952	10	0.16420	T	0.52	-5.8753	3.4635	0.07541	0.6454:0.1481:0.0788:0.1277	.	199;199	G3V4Y2;P46663	.;BKRB1_HUMAN	R	199	ENSP00000216629:H199R;ENSP00000452064:H199R	ENSP00000216629:H199R	H	+	2	0	BDKRB1	95800368	0.000000	0.05858	0.955000	0.39395	0.303000	0.27691	-0.156000	0.10100	0.754000	0.32968	0.379000	0.24179	CAC		BDKRB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413300.1		
TRIP10	9322	hgsc.bcm.edu	37	19	6744988	6744988	+	Missense_Mutation	SNP	T	T	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr19:6744988T>A	ENST00000313244.9	+	9	1002	c.967T>A	c.(967-969)Ttt>Att	p.F323I	TRIP10_ENST00000596758.1_Missense_Mutation_p.F323I|TRIP10_ENST00000600428.1_Missense_Mutation_p.F215I|TRIP10_ENST00000313285.8_Missense_Mutation_p.F323I			Q15642	CIP4_HUMAN	thyroid hormone receptor interactor 10	323	Interaction with CDC42.|Interaction with PDE6G. {ECO:0000250}.				actin cytoskeleton organization (GO:0030036)|cell communication (GO:0007154)|endocytosis (GO:0006897)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						GCGCTGGCCTTTTGGCAAGAA	0.667																																																	0			19											18.0	21.0	20.0					19																	6744988		2195	4286	6481	6695988	SO:0001583	missense	9322			AB072596	CCDS12172.1, CCDS74271.1, CCDS74272.1	19p13.3	2008-02-05			ENSG00000125733	ENSG00000125733			12304	protein-coding gene	gene with protein product	"""Cdc42-interacting protein"""	604504	"""salt tolerator"""	STOT		7776974, 9210375, 11294612	Standard	XM_005259683		Approved	STP, HSTP, CIP4	uc002mfr.3	Q15642	OTTHUMG00000150255	ENST00000313244.9:c.967T>A	19.37:g.6744988T>A	ENSP00000320117:p.Phe323Ile	Somatic		Capture	Illumina HiSeq	Phase_I	6695988	B2R8A6|B7WP22|D6W645|O15184|Q53G22|Q5TZN1|Q6FI24|Q8NFL1|Q8TCY1|Q8TDX3|Q96RJ1	Missense_Mutation	SNP	ENST00000313244.9	37		.	.	.	.	.	.	.	.	.	.	T	27.7	4.853952	0.91355	.	.	ENSG00000125733	ENST00000313285;ENST00000313244;ENST00000420690	D;D	0.91295	-2.82;-2.82	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	D	0.93122	0.7810	L	0.47016	1.485	0.58432	D	0.999999	D;P;D	0.89917	1.0;0.817;1.0	D;B;D	0.91635	0.999;0.23;0.997	D	0.93742	0.7051	10	0.87932	D	0	-20.3656	13.1857	0.59680	0.0:0.0:0.0:1.0	.	323;323;323	G5E9U1;Q15642;Q15642-2	.;CIP4_HUMAN;.	I	323	ENSP00000320493:F323I;ENSP00000320117:F323I	ENSP00000320117:F323I	F	+	1	0	TRIP10	6695988	1.000000	0.71417	0.946000	0.38457	0.713000	0.41058	7.180000	0.77674	2.010000	0.58986	0.402000	0.26972	TTT		TRIP10-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000317129.2		
FBN3	84467	hgsc.bcm.edu	37	19	8203386	8203386	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr19:8203386C>T	ENST00000600128.1	-	9	1342	c.928G>A	c.(928-930)Ggc>Agc	p.G310S	FBN3_ENST00000601739.1_Missense_Mutation_p.G310S|FBN3_ENST00000270509.2_Missense_Mutation_p.G310S			Q75N90	FBN3_HUMAN	fibrillin 3	310	TB 2.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GTGTAGTGGCCGGCGAGGTCT	0.652																																																	0			19											23.0	25.0	25.0					19																	8203386		2201	4299	6500	8109386	SO:0001583	missense	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.928G>A	19.37:g.8203386C>T	ENSP00000470498:p.Gly310Ser	Somatic		Capture	Illumina HiSeq	Phase_I	8109386	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	.	.	.	.	.	.	.	.	.	.	c	13.90	2.374613	0.42105	.	.	ENSG00000142449	ENST00000270509	D	0.93953	-3.32	4.06	4.06	0.47325	Matrix fibril-associated (3);TGF-beta binding (1);	0.000000	0.85682	U	0.000000	D	0.96654	0.8908	M	0.88031	2.925	0.43885	D	0.996502	D	0.89917	1.0	D	0.78314	0.991	D	0.96021	0.9009	10	0.18276	T	0.48	.	16.1794	0.81889	0.0:1.0:0.0:0.0	.	310	Q75N90	FBN3_HUMAN	S	310	ENSP00000270509:G310S	ENSP00000270509:G310S	G	-	1	0	FBN3	8109386	0.948000	0.32251	0.032000	0.17829	0.008000	0.06430	2.859000	0.48364	1.974000	0.57490	0.556000	0.70494	GGC		FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447	
ZSWIM4	65249	hgsc.bcm.edu	37	19	13941113	13941113	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr19:13941113G>A	ENST00000254323.2	+	13	2408	c.2219G>A	c.(2218-2220)cGa>cAa	p.R740Q	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.R574Q	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	740							zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			ACTCTGCTGCGACTGCAGCTG	0.617																																																	0			19											62.0	60.0	61.0					19																	13941113		2203	4300	6503	13802113	SO:0001583	missense	65249			AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.2219G>A	19.37:g.13941113G>A	ENSP00000254323:p.Arg740Gln	Somatic		Capture	Illumina HiSeq	Phase_I	13802113		Missense_Mutation	SNP	ENST00000254323.2	37	CCDS32924.1	.	.	.	.	.	.	.	.	.	.	G	19.91	3.913703	0.72983	.	.	ENSG00000132003	ENST00000254323;ENST00000440752	T;T	0.53206	0.63;0.64	4.15	4.15	0.48705	.	0.000000	0.53938	D	0.000045	T	0.63034	0.2477	L	0.59436	1.845	0.42845	D	0.994067	D;P	0.76494	0.999;0.941	D;P	0.77557	0.99;0.541	T	0.64474	-0.6399	10	0.44086	T	0.13	-32.9217	13.9159	0.63897	0.0:0.0:1.0:0.0	.	574;740	E7ERX2;Q9H7M6	.;ZSWM4_HUMAN	Q	740;574	ENSP00000254323:R740Q;ENSP00000405278:R574Q	ENSP00000254323:R740Q	R	+	2	0	ZSWIM4	13802113	1.000000	0.71417	1.000000	0.80357	0.485000	0.33311	9.384000	0.97219	1.853000	0.53794	0.491000	0.48974	CGA		ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457457.1	XM_031342	
CYP4F12	66002	hgsc.bcm.edu	37	19	15789139	15789139	+	Silent	SNP	G	G	T	rs568094588		TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr19:15789139G>T	ENST00000550308.1	+	3	647	c.267G>T	c.(265-267)acG>acT	p.T89T	CYP4F12_ENST00000324632.10_Silent_p.T89T	NM_023944.3	NP_076433	Q9HCS2	CP4FC_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 12	89					arachidonic acid metabolic process (GO:0019369)|drug metabolic process (GO:0017144)|epoxygenase P450 pathway (GO:0019373)|leukotriene B4 catabolic process (GO:0036101)|long-chain fatty acid metabolic process (GO:0001676)|negative regulation of blood coagulation (GO:0030195)|oxidation-reduction process (GO:0055114)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|very long-chain fatty acid metabolic process (GO:0000038)|vitamin E metabolic process (GO:0042360)|vitamin K biosynthetic process (GO:0042371)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)|vitamin-K-epoxide reductase (warfarin-sensitive) activity (GO:0047057)			NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)				Fingolimod(DB08868)	AGGGCTTTACGATATGGCTGG	0.537																																																	0			19											138.0	138.0	138.0					19																	15789139		2178	4288	6466	15650139	SO:0001819	synonymous_variant	66002			AB035130	CCDS42517.1	19p13.1	2008-02-05	2003-01-14		ENSG00000186204	ENSG00000186204		"""Cytochrome P450s"""	18857	protein-coding gene	gene with protein product		611485	"""cytochrome P450, subfamily IVF, polypeptide 12"""			11162607	Standard	NM_023944		Approved		uc002nbl.3	Q9HCS2	OTTHUMG00000164477	ENST00000550308.1:c.267G>T	19.37:g.15789139G>T		Somatic		Capture	Illumina HiSeq	Phase_I	15650139	E7ET51|O60389|Q5JPJ7|Q9HCS1	Silent	SNP	ENST00000550308.1	37	CCDS42517.1																																																																																				CYP4F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378938.9		
HAMP	57817	hgsc.bcm.edu	37	19	35775901	35775901	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr19:35775901G>T	ENST00000598398.1	+	4	507	c.211G>T	c.(211-213)Ggc>Tgc	p.G71C	HAMP_ENST00000222304.3_Missense_Mutation_p.G71C	NM_021175.2	NP_066998.1	P81172	HEPC_HUMAN	hepcidin antimicrobial peptide	71			G -> D (in HFE2B; dbSNP:rs104894696). {ECO:0000269|PubMed:12915468, ECO:0000269|PubMed:14633868, ECO:0000269|PubMed:14670915}.		cellular iron ion homeostasis (GO:0006879)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|immune response (GO:0006955)|killing of cells of other organism (GO:0031640)	apical cortex (GO:0045179)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTTCTGCTGCGGCTGCTGTCA	0.577																																																	0			19											141.0	127.0	132.0					19																	35775901		2203	4300	6503	40467741	SO:0001583	missense	57817			AF309489	CCDS12454.1	19q13.1	2014-09-17				ENSG00000105697			15598	protein-coding gene	gene with protein product		606464				11034317, 11113132	Standard	NM_021175		Approved	LEAP-1, HEPC, HFE2B, LEAP1	uc002nyw.3	P81172		ENST00000598398.1:c.211G>T	19.37:g.35775901G>T	ENSP00000471894:p.Gly71Cys	Somatic		Capture	Illumina HiSeq	Phase_I	40467741	Q1HE14|Q9BY68	Missense_Mutation	SNP	ENST00000598398.1	37	CCDS12454.1	.	.	.	.	.	.	.	.	.	.	G	15.30	2.793758	0.50102	.	.	ENSG00000105697	ENST00000222304	D	0.89123	-2.47	4.51	-3.16	0.05217	.	2.232930	0.01537	N	0.019048	D	0.92496	0.7617	.	.	.	0.09310	N	1	D	0.69078	0.997	P	0.61874	0.895	T	0.82900	-0.0228	9	0.87932	D	0	-0.9416	9.888	0.41272	0.749:0.0:0.251:0.0	.	71	P81172	HEPC_HUMAN	C	71	ENSP00000222304:G71C	ENSP00000222304:G71C	G	+	1	0	HAMP	40467741	0.000000	0.05858	0.000000	0.03702	0.156000	0.22039	-0.288000	0.08377	-0.445000	0.07159	-0.258000	0.10820	GGC		HAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466067.1	NM_021175	
ZNF222	7673	hgsc.bcm.edu	37	19	44536594	44536594	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr19:44536594C>T	ENST00000187879.8	+	4	929	c.767C>T	c.(766-768)cCa>cTa	p.P256L	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Missense_Mutation_p.P296L	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	256					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				GGGGAGAAGCCATTCAAATGT	0.398																																																	0			19											131.0	137.0	135.0					19																	44536594		2203	4300	6503	49228434	SO:0001583	missense	7673			AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"""Zinc fingers, C2H2-type"", ""-"""	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.767C>T	19.37:g.44536594C>T	ENSP00000187879:p.Pro256Leu	Somatic		Capture	Illumina HiSeq	Phase_I	49228434	G5E9B9|Q8N6G7|Q9P1U5	Missense_Mutation	SNP	ENST00000187879.8	37	CCDS33045.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.956137	0.73902	.	.	ENSG00000159885	ENST00000391960;ENST00000187879;ENST00000251272	T;T	0.17054	2.3;2.3	2.79	2.79	0.32731	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29061	0.0722	M	0.81239	2.535	0.46078	D	0.998856	P;P	0.49253	0.92;0.921	P;P	0.47346	0.507;0.544	T	0.35351	-0.9792	9	0.66056	D	0.02	.	12.7225	0.57149	0.0:1.0:0.0:0.0	.	296;256	G5E9B9;Q9UK12	.;ZN222_HUMAN	L	296;256;202	ENSP00000375822:P296L;ENSP00000187879:P256L	ENSP00000187879:P256L	P	+	2	0	ZNF222	49228434	0.912000	0.30974	0.010000	0.14722	0.453000	0.32348	2.735000	0.47377	1.531000	0.49152	0.205000	0.17691	CCA		ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000460465.2		
PRKD2	25865	hgsc.bcm.edu	37	19	47177807	47177807	+	Silent	SNP	C	C	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr19:47177807C>A	ENST00000291281.4	-	18	2835	c.2610G>T	c.(2608-2610)ggG>ggT	p.G870G	DACT3-AS1_ENST00000525352.1_RNA|PRKD2_ENST00000600194.1_Silent_p.G713G|PRKD2_ENST00000433867.1_Silent_p.G870G|PRKD2_ENST00000601806.1_Silent_p.G713G|PRKD2_ENST00000595515.1_Silent_p.G880G|DACT3-AS1_ENST00000525008.1_RNA			Q9BZL6	KPCD2_HUMAN	protein kinase D2	870			G -> E (in a gastric adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|endothelial tube morphogenesis (GO:0061154)|intracellular signal transduction (GO:0035556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of intracellular signal transduction (GO:1902533)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell receptor signaling pathway (GO:0050862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GCTCCGCCAGCCCCTGCATGT	0.632																																																	0			19											44.0	33.0	37.0					19																	47177807		2203	4300	6503	51869647	SO:0001819	synonymous_variant	25865			AF151021	CCDS12689.1, CCDS59401.1	19q13.2	2013-01-10				ENSG00000105287		"""Pleckstrin homology (PH) domain containing"""	17293	protein-coding gene	gene with protein product		607074				11042152, 11062248	Standard	NM_001079880		Approved	PKD2, HSPC187, DKFZP586E0820	uc002pfj.3	Q9BZL6		ENST00000291281.4:c.2610G>T	19.37:g.47177807C>A		Somatic		Capture	Illumina HiSeq	Phase_I	51869647	Q8TB08|Q9P0T6|Q9Y3X8	Silent	SNP	ENST00000291281.4	37	CCDS12689.1																																																																																				PRKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466591.1	NM_016457	
PRR12	57479	hgsc.bcm.edu	37	19	50098694	50098694	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr19:50098694G>T	ENST00000418929.2	+	4	1114	c.1102G>T	c.(1102-1104)Gca>Tca	p.A368S		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0	Pro-rich.						DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CCCTGAGGCAGCAGGGGGCGG	0.711																																																	0			19											2.0	3.0	2.0					19																	50098694		1346	3171	4517	54790506	SO:0001583	missense	57479			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.1102G>T	19.37:g.50098694G>T	ENSP00000394510:p.Ala368Ser	Somatic		Capture	Illumina HiSeq	Phase_I	54790506	E9PB06|Q8N4J6	Missense_Mutation	SNP	ENST00000418929.2	37	CCDS46143.1	.	.	.	.	.	.	.	.	.	.	G	1.226	-0.625452	0.03610	.	.	ENSG00000126464	ENST00000418929	.	.	.	3.83	-2.59	0.06209	.	.	.	.	.	T	0.12008	0.0292	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.29150	-1.0021	7	0.08837	T	0.75	.	1.0517	0.01581	0.3805:0.1492:0.3181:0.1522	.	368	Q9ULL5-3	.	S	368	.	ENSP00000394510:A368S	A	+	1	0	PRR12	54790506	0.003000	0.15002	0.000000	0.03702	0.053000	0.15095	-0.579000	0.05834	-0.452000	0.07087	-0.379000	0.06801	GCA		PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465915.1	NM_020719	
SIGLEC8	27181	hgsc.bcm.edu	37	19	51955690	51955690	+	Silent	SNP	T	T	C			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr19:51955690T>C	ENST00000321424.3	-	7	1509	c.1443A>G	c.(1441-1443)gcA>gcG	p.A481A	SIGLEC8_ENST00000340550.5_Silent_p.A388A|SIGLEC8_ENST00000430817.1_Silent_p.A372A	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	481					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCTGAGTCTCTGCAGTTTCTC	0.517																																																	0			19											131.0	119.0	123.0					19																	51955690		2203	4300	6503	56647502	SO:0001819	synonymous_variant	27181			AF195092	CCDS33086.1	19q13.33-q13.41	2013-01-29			ENSG00000105366	ENSG00000105366		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10877	protein-coding gene	gene with protein product		605639				10625619	Standard	XR_243922		Approved	SIGLEC-8, SAF2, SIGLEC8L, MGC59785	uc002pwt.3	Q9NYZ4		ENST00000321424.3:c.1443A>G	19.37:g.51955690T>C		Somatic		Capture	Illumina HiSeq	Phase_I	56647502	Q7Z728	Silent	SNP	ENST00000321424.3	37	CCDS33086.1																																																																																				SIGLEC8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463648.2	NM_014442	
NLRP11	204801	hgsc.bcm.edu	37	19	56320620	56320620	+	Silent	SNP	G	G	A	rs147156673	byFrequency	TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr19:56320620G>A	ENST00000589093.1	-	3	1449	c.1356C>T	c.(1354-1356)aaC>aaT	p.N452N	NLRP11_ENST00000360133.3_Silent_p.N452N|NLRP11_ENST00000589824.2_Silent_p.N452N|NLRP11_ENST00000592953.1_Silent_p.N353N|NLRP11_ENST00000443188.1_Silent_p.N452N			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	452	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.						ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ACTCCTGGACGTTCAAGTGTA	0.453																																																	0			19						G		0,4406		0,0,2203	69.0	68.0	69.0		1356	-3.5	0.0	19	dbSNP_134	69	3,8597	3.0+/-9.4	0,3,4297	no	coding-synonymous	NLRP11	NM_145007.3		0,3,6500	AA,AG,GG		0.0349,0.0,0.0231		452/1034	56320620	3,13003	2203	4300	6503	61012432	SO:0001819	synonymous_variant	204801			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.1356C>T	19.37:g.56320620G>A		Somatic		Capture	Illumina HiSeq	Phase_I	61012432	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Silent	SNP	ENST00000589093.1	37	CCDS12935.1																																																																																				NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007	
ZNF586	54807	hgsc.bcm.edu	37	19	58290195	58290195	+	Silent	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr19:58290195A>G	ENST00000396154.2	+	3	413	c.240A>G	c.(238-240)ggA>ggG	p.G80G	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000396150.4_Missense_Mutation_p.E38G|ZNF586_ENST00000391702.3_Silent_p.G37G|ZNF586_ENST00000598885.1_Intron	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	80	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.G80G(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAGACCAGGGAGGTCATAGTG	0.443																																																	1	Substitution - coding silent(1)	ovary(1)	19											73.0	71.0	71.0					19																	58290195		2008	4198	6206	62982007	SO:0001819	synonymous_variant	54807			AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"""Zinc fingers, C2H2-type"", ""-"""	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.240A>G	19.37:g.58290195A>G		Somatic		Capture	Illumina HiSeq	Phase_I	62982007	A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Silent	SNP	ENST00000396154.2	37	CCDS42640.1	.	.	.	.	.	.	.	.	.	.	A	9.449	1.090181	0.20390	.	.	ENSG00000083828	ENST00000396150	T	0.50813	0.73	1.75	1.75	0.24633	.	.	.	.	.	T	0.39306	0.1073	.	.	.	0.20873	N	0.999837	P	0.34587	0.458	B	0.40410	0.328	T	0.26883	-1.0090	7	.	.	.	.	8.2724	0.31853	1.0:0.0:0.0:0.0	.	38	A0JLV8	.	G	38	ENSP00000379454:E38G	.	E	+	2	0	ZNF586	62982007	0.001000	0.12720	0.011000	0.14972	0.068000	0.16541	1.118000	0.31246	0.776000	0.33473	0.459000	0.35465	GAG		ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466825.2	NM_017652	
XKR6	286046	hgsc.bcm.edu	37	8	10756077	10756077	+	Silent	SNP	C	C	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr8:10756077C>T	ENST00000416569.2	-	3	1337	c.1311G>A	c.(1309-1311)cgG>cgA	p.R437R	XKR6_ENST00000304437.2_Silent_p.R158R	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	437						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		GATATCGAGTCCGCCCTTCCT	0.473																																																	0			8											138.0	119.0	125.0					8																	10756077		2203	4300	6503	10793487	SO:0001819	synonymous_variant	286046			BC024146	CCDS5978.2	8p23.1	2009-05-27	2006-01-12	2005-07-28	ENSG00000171044	ENSG00000171044			27806	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 7"", ""chromosome 8 open reading frame 21"", ""X Kell blood group precursor-related family, member 6"", ""chromosome 8 open reading frame 5"""	C8orf7, C8orf21, C8orf5			Standard	NM_173683		Approved		uc003wtk.1	Q5GH73	OTTHUMG00000129351	ENST00000416569.2:c.1311G>A	8.37:g.10756077C>T		Somatic		Capture	Illumina HiSeq	Phase_I	10793487	Q8TBA0	Silent	SNP	ENST00000416569.2	37	CCDS5978.2	.	.	.	.	.	.	.	.	.	.	C	5.078	0.199971	0.09652	.	.	ENSG00000171044	ENST00000382461	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	T	0.74183	0.3683	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73300	-0.4026	4	.	.	.	-27.6178	17.8783	0.88831	0.0:1.0:0.0:0.0	.	.	.	.	E	214	.	.	G	-	2	0	XKR6	10793487	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.457000	0.83068	0.561000	0.74099	GGA		XKR6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383958.1	NM_173683	
BMP1	649	hgsc.bcm.edu	37	8	22049654	22049654	+	Silent	SNP	G	G	T	rs76021885	byFrequency	TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr8:22049654G>T	ENST00000306385.5	+	9	1840	c.1170G>T	c.(1168-1170)gcG>gcT	p.A390A	BMP1_ENST00000306349.8_Silent_p.A390A|BMP1_ENST00000397814.3_Silent_p.A390A|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Silent_p.A390A	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	390	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)	p.A390A(2)		breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GGAGGAAGGCGCCCCTCCGAG	0.622													G|||	8	0.00159744	0.0061	0.0	5008	,	,		16647	0.0		0.0	False		,,,				2504	0.0																2	Substitution - coding silent(2)	lung(2)	8						G	,	20,4386	27.2+/-55.0	0,20,2183	138.0	116.0	123.0		1170,1170	-6.0	0.9	8	dbSNP_131	123	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	BMP1	NM_001199.3,NM_006129.4	,	0,20,6483	TT,TG,GG		0.0,0.4539,0.1538	,	390/731,390/987	22049654	20,12986	2203	4300	6503	22105599	SO:0001819	synonymous_variant	649				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1170G>T	8.37:g.22049654G>T		Somatic		Capture	Illumina HiSeq	Phase_I	22105599	A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Silent	SNP	ENST00000306385.5	37	CCDS6026.1																																																																																				BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214995.2	NM_006132	
CHMP7	91782	hgsc.bcm.edu	37	8	23112920	23112920	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr8:23112920C>T	ENST00000397677.1	+	4	1280	c.632C>T	c.(631-633)aCa>aTa	p.T211I	CHMP7_ENST00000313219.7_Missense_Mutation_p.T211I	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	211					endosomal transport (GO:0016197)|late endosome to vacuole transport (GO:0045324)|membrane organization (GO:0061024)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|ESCRT III complex (GO:0000815)	protein transporter activity (GO:0008565)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AAGAGGGTCACAGTCCTCGAG	0.522																																																	0			8											116.0	103.0	108.0					8																	23112920		2203	4300	6503	23168865	SO:0001583	missense	91782			BC019110	CCDS6040.1	8p21.2	2011-09-21	2011-09-21		ENSG00000147457	ENSG00000147457		"""Charged multivesicular body proteins"""	28439	protein-coding gene	gene with protein product		611130	"""CHMP family, member 7"""			16856878	Standard	NM_152272		Approved	MGC29816	uc003xdc.2	Q8WUX9	OTTHUMG00000131785	ENST00000397677.1:c.632C>T	8.37:g.23112920C>T	ENSP00000380794:p.Thr211Ile	Somatic		Capture	Illumina HiSeq	Phase_I	23168865	B2RDT3|B4DKJ6|D3DSS1|Q8NDM1|Q9BT50	Missense_Mutation	SNP	ENST00000397677.1	37	CCDS6040.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616627	0.87359	.	.	ENSG00000147457	ENST00000397677;ENST00000313219	T;T	0.58940	0.3;0.3	5.97	5.97	0.96955	.	0.139826	0.64402	D	0.000004	T	0.39545	0.1082	L	0.32530	0.975	0.48511	D	0.999664	P;P	0.40197	0.675;0.706	B;B	0.33121	0.158;0.115	T	0.42050	-0.9474	10	0.02654	T	1	-8.9085	14.5816	0.68295	0.0:0.8541:0.1459:0.0	.	101;211	B3KRZ9;Q8WUX9	.;CHMP7_HUMAN	I	211	ENSP00000380794:T211I;ENSP00000324491:T211I	ENSP00000324491:T211I	T	+	2	0	CHMP7	23168865	0.982000	0.34865	0.972000	0.41901	0.995000	0.86356	2.551000	0.45820	2.828000	0.97474	0.655000	0.94253	ACA		CHMP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254717.1	NM_152272	
CSPP1	79848	hgsc.bcm.edu	37	8	68102916	68102916	+	Silent	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr8:68102916A>G	ENST00000262210.5	+	27	3268	c.3237A>G	c.(3235-3237)gaA>gaG	p.E1079E	ARFGEF1_ENST00000520381.1_Intron|CSPP1_ENST00000521168.1_3'UTR|CSPP1_ENST00000412460.1_Silent_p.E734E	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1114					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CTGCCATTGAAGATGACGTCC	0.488																																																	0			8											119.0	115.0	116.0					8																	68102916		1948	4138	6086	68265470	SO:0001819	synonymous_variant	79848			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.3237A>G	8.37:g.68102916A>G		Somatic		Capture	Illumina HiSeq	Phase_I	68265470	A6ND63|Q70F00|Q8TBC1	Silent	SNP	ENST00000262210.5	37	CCDS43744.1																																																																																				CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790	
PRDM14	63978	hgsc.bcm.edu	37	8	70971028	70971028	+	Silent	SNP	G	G	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr8:70971028G>A	ENST00000276594.2	-	6	1434	c.1233C>T	c.(1231-1233)taC>taT	p.Y411Y		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	411					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TGTAATATTTGTAGGTAAATA	0.453																																					NSCLC(129;99 1813 5906 40656 46114)												0			8											109.0	97.0	101.0					8																	70971028		2203	4300	6503	71133582	SO:0001819	synonymous_variant	63978			AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.1233C>T	8.37:g.70971028G>A		Somatic		Capture	Illumina HiSeq	Phase_I	71133582	Q86UX9	Silent	SNP	ENST00000276594.2	37	CCDS6206.1																																																																																				PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1		
KCNB2	9312	hgsc.bcm.edu	37	8	73848535	73848535	+	Silent	SNP	C	C	A	rs556315875		TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr8:73848535C>A	ENST00000523207.1	+	3	1533	c.945C>A	c.(943-945)gcC>gcA	p.A315A		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	315					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of smooth muscle contraction (GO:0006940)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)		Dalfampridine(DB06637)	TGAAACTCGCCAGGCATTCGA	0.512																																																	0			8											77.0	76.0	76.0					8																	73848535		2203	4300	6503	74011089	SO:0001819	synonymous_variant	9312			U69962	CCDS6209.1	8q13.2	2012-07-05			ENSG00000182674	ENSG00000182674		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6232	protein-coding gene	gene with protein product		607738				9612272, 16382104	Standard	NM_004770		Approved	Kv2.2	uc003xzb.3	Q92953	OTTHUMG00000164498	ENST00000523207.1:c.945C>A	8.37:g.73848535C>A		Somatic		Capture	Illumina HiSeq	Phase_I	74011089	Q7Z7D0|Q9BXD3	Silent	SNP	ENST00000523207.1	37	CCDS6209.1																																																																																				KCNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378998.1	NM_004770	
VPS13B	157680	hgsc.bcm.edu	37	8	100128073	100128073	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr8:100128073A>G	ENST00000358544.2	+	7	1019	c.908A>G	c.(907-909)cAt>cGt	p.H303R	VPS13B_ENST00000357162.2_Missense_Mutation_p.H303R|VPS13B_ENST00000441350.2_Missense_Mutation_p.H303R|VPS13B_ENST00000355155.1_Missense_Mutation_p.H303R|VPS13B_ENST00000395996.1_Missense_Mutation_p.H303R	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	303					protein transport (GO:0015031)			p.H303R(1)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTTACTTGTCATAATAAAGAT	0.299																																					Colon(161;2205 2542 7338 31318)												1	Substitution - Missense(1)	ovary(1)	8											67.0	69.0	68.0					8																	100128073		2203	4296	6499	100197249	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.908A>G	8.37:g.100128073A>G	ENSP00000351346:p.His303Arg	Somatic		Capture	Illumina HiSeq	Phase_I	100197249	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	10.25	1.299077	0.23650	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996;ENST00000441350	T;T;T;T;D	0.82433	-1.03;-0.32;-0.32;-0.03;-1.61	5.65	3.25	0.37280	.	0.339565	0.27451	N	0.019317	T	0.64114	0.2569	N	0.22421	0.69	0.29101	N	0.881461	P;B;B;B;B	0.34757	0.467;0.112;0.256;0.095;0.078	B;B;B;B;B	0.31547	0.132;0.015;0.086;0.023;0.033	T	0.54323	-0.8311	10	0.18710	T	0.47	.	3.2179	0.06705	0.6424:0.1406:0.0737:0.1433	.	303;303;303;303;303	Q7Z7G8-2;Q7Z7G8;Q7Z7G8-3;Q7Z7G8-4;Q7Z7G8-5	.;VP13B_HUMAN;.;.;.	R	303	ENSP00000347281:H303R;ENSP00000349685:H303R;ENSP00000351346:H303R;ENSP00000379318:H303R;ENSP00000398472:H303R	ENSP00000347281:H303R	H	+	2	0	VPS13B	100197249	0.980000	0.34600	0.997000	0.53966	0.775000	0.43874	2.275000	0.43399	0.940000	0.37473	0.533000	0.62120	CAT		VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042	
ATAD2	29028	hgsc.bcm.edu	37	8	124381300	124381300	+	Missense_Mutation	SNP	G	G	C			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr8:124381300G>C	ENST00000287394.5	-	8	1154	c.1047C>G	c.(1045-1047)aaC>aaG	p.N349K	ATAD2_ENST00000534257.1_5'UTR|ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	349					ATP catabolic process (GO:0006200)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			AACCAAACCTGTTCATTCGTT	0.388																																																	0			8											105.0	93.0	97.0					8																	124381300		2203	4300	6503	124450481	SO:0001583	missense	29028			BC019909	CCDS6343.1	8q24.13	2014-01-21		2007-02-08	ENSG00000156802	ENSG00000156802		"""ATPases / AAA-type"""	30123	protein-coding gene	gene with protein product		611941				12477932	Standard	NM_014109		Approved	PRO2000, DKFZp667N1320, MGC5254, MGC29843, CT137	uc003yqh.4	Q6PL18	OTTHUMG00000165090	ENST00000287394.5:c.1047C>G	8.37:g.124381300G>C	ENSP00000287394:p.Asn349Lys	Somatic		Capture	Illumina HiSeq	Phase_I	124450481	Q14CR1|Q658P2|Q68CQ0|Q6PJV6|Q8N890|Q9UHS5	Missense_Mutation	SNP	ENST00000287394.5	37	CCDS6343.1	.	.	.	.	.	.	.	.	.	.	G	11.42	1.634813	0.29068	.	.	ENSG00000156802	ENST00000287394	D	0.91631	-2.88	5.34	5.34	0.76211	.	0.360715	0.20098	U	0.099297	D	0.85314	0.5668	N	0.22421	0.69	0.80722	D	1	B;B	0.14805	0.011;0.002	B;B	0.16289	0.015;0.004	T	0.79230	-0.1889	10	0.05436	T	0.98	-10.2378	18.183	0.89785	0.0:0.0:1.0:0.0	.	179;349	Q6PL18-2;Q6PL18	.;ATAD2_HUMAN	K	349	ENSP00000287394:N349K	ENSP00000287394:N349K	N	-	3	2	ATAD2	124450481	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.379000	0.44318	2.645000	0.89757	0.650000	0.86243	AAC		ATAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381766.2	NM_014109	
ADCY8	114	hgsc.bcm.edu	37	8	131826350	131826350	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr8:131826350C>T	ENST00000286355.5	-	14	4970	c.2878G>A	c.(2878-2880)Gcc>Acc	p.A960T	ADCY8_ENST00000377928.3_Missense_Mutation_p.A829T	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	960					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			AAATGGCGGGCCACATGGCTG	0.527										HNSCC(32;0.087)																																							0			8											179.0	139.0	153.0					8																	131826350		2203	4300	6503	131895532	SO:0001583	missense	114			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.2878G>A	8.37:g.131826350C>T	ENSP00000286355:p.Ala960Thr	Somatic		Capture	Illumina HiSeq	Phase_I	131895532		Missense_Mutation	SNP	ENST00000286355.5	37	CCDS6363.1	.	.	.	.	.	.	.	.	.	.	C	36	5.803609	0.96960	.	.	ENSG00000155897	ENST00000286355;ENST00000377928	D;D	0.84873	-1.91;-1.8	5.87	5.87	0.94306	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.85682	D	0.000000	D	0.93471	0.7917	M	0.86953	2.85	0.47659	D	0.999485	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93793	0.7094	10	0.87932	D	0	.	17.7375	0.88397	0.0:1.0:0.0:0.0	.	829;960	E7EVL1;P40145	.;ADCY8_HUMAN	T	960;829	ENSP00000286355:A960T;ENSP00000367161:A829T	ENSP00000286355:A960T	A	-	1	0	ADCY8	131895532	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.432000	0.80349	2.941000	0.99782	0.655000	0.94253	GCC		ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380080.1		
KCNK9	51305	hgsc.bcm.edu	37	8	140630763	140630763	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr8:140630763G>A	ENST00000520439.1	-	2	926	c.863C>T	c.(862-864)gCg>gTg	p.A288V	KCNK9_ENST00000523477.1_5'Flank|KCNK9_ENST00000303015.1_Missense_Mutation_p.A288V	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	288					cochlea development (GO:0090102)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)	p.A288V(1)		NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)		Doxapram(DB00561)|Halothane(DB01159)	CGGGACGTCCGCCTTGTACCT	0.667																																																	1	Substitution - Missense(1)	ovary(1)	8											48.0	53.0	51.0					8																	140630763		2203	4300	6503	140699945	SO:0001583	missense	51305			AF212829	CCDS6377.1	8q24.3	2012-03-07			ENSG00000169427	ENSG00000169427		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6283	protein-coding gene	gene with protein product		605874				10734076, 16382106	Standard	NM_001282534		Approved	K2p9.1, TASK3, TASK-3	uc003yvf.1	Q9NPC2	OTTHUMG00000164186	ENST00000520439.1:c.863C>T	8.37:g.140630763G>A	ENSP00000430676:p.Ala288Val	Somatic		Capture	Illumina HiSeq	Phase_I	140699945	Q2M290|Q540F2	Missense_Mutation	SNP	ENST00000520439.1	37	CCDS6377.1	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676779	0.47886	.	.	ENSG00000169427	ENST00000522317;ENST00000303015;ENST00000520439	T;T;T	0.17528	2.27;2.27;2.27	5.53	3.67	0.42095	.	1.078660	0.07116	N	0.843000	T	0.22282	0.0537	M	0.63843	1.955	0.26385	N	0.976664	B	0.26876	0.162	B	0.25759	0.063	T	0.42258	-0.9462	10	0.15066	T	0.55	.	14.9469	0.71039	0.0:0.2816:0.7184:0.0	.	288	Q9NPC2	KCNK9_HUMAN	V	288	ENSP00000429847:A288V;ENSP00000302166:A288V;ENSP00000430676:A288V	ENSP00000302166:A288V	A	-	2	0	KCNK9	140699945	0.997000	0.39634	0.905000	0.35620	0.886000	0.51366	3.277000	0.51654	0.624000	0.30286	0.591000	0.81541	GCG		KCNK9-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378473.1	NM_016601	
STPG1	90529	hgsc.bcm.edu	37	1	24687367	24687367	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr1:24687367G>A	ENST00000374409.1	-	8	1156	c.902C>T	c.(901-903)cCg>cTg	p.P301L	STPG1_ENST00000337248.4_Missense_Mutation_p.P301L|STPG1_ENST00000440416.1_Missense_Mutation_p.P254L|GRHL3_ENST00000350501.5_Intron|STPG1_ENST00000468303.1_5'UTR|STPG1_ENST00000003583.8_Missense_Mutation_p.P254L	NM_001199012.1	NP_001185941.1	Q5TH74	STPG1_HUMAN	sperm-tail PG-rich repeat containing 1	301					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)|nucleus (GO:0005634)											TGGCTGAGGCGGCGCCGCTGT	0.507																																																	0			1											54.0	62.0	59.0					1																	24687367		2201	4297	6498	24559954	SO:0001583	missense	90529			BC047705	CCDS253.1, CCDS55581.1	1p36.11	2012-10-31	2012-07-30	2012-07-30	ENSG00000001460	ENSG00000001460			28070	protein-coding gene	gene with protein product	"""O6-methylguanine-induced apoptosis 2"""	615826	"""chromosome 1 open reading frame 201"""	C1orf201		23028632	Standard	NM_001199012		Approved	FLJ33340, MAPO2	uc001bjc.3	Q5TH74	OTTHUMG00000003297	ENST00000374409.1:c.902C>T	1.37:g.24687367G>A	ENSP00000363530:p.Pro301Leu	Somatic		Capture	Illumina HiSeq	Phase_I	24559954	Q49AP0|Q6P3R4|Q86VU9|Q8WVQ3	Missense_Mutation	SNP	ENST00000374409.1	37	CCDS55581.1	.	.	.	.	.	.	.	.	.	.	G	5.021	0.189609	0.09547	.	.	ENSG00000001460	ENST00000374409;ENST00000440416;ENST00000003583;ENST00000337248	.	.	.	5.9	3.94	0.45596	.	0.631432	0.16046	N	0.232185	T	0.16981	0.0408	L	0.38531	1.155	0.09310	N	1	P;P	0.44006	0.824;0.792	B;B	0.34385	0.157;0.181	T	0.08534	-1.0717	9	0.07482	T	0.82	.	8.163	0.31209	0.08:0.3066:0.6134:0.0	.	301;254	Q5TH74;Q5TH74-3	CA201_HUMAN;.	L	301;254;254;301	.	ENSP00000003583:P254L	P	-	2	0	C1orf201	24559954	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.906000	0.28517	0.755000	0.32990	0.563000	0.77884	CCG		STPG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009172.1	NM_178122	
KLF17	128209	hgsc.bcm.edu	37	1	44595667	44595667	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr1:44595667C>T	ENST00000372299.3	+	2	782	c.724C>T	c.(724-726)Cag>Tag	p.Q242*	KLF17_ENST00000476802.1_Intron	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	242					gamete generation (GO:0007276)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					TCTTGTCAGTCAGCCAGACTC	0.562																																																	0			1											68.0	67.0	68.0					1																	44595667		2203	4300	6503	44368254	SO:0001587	stop_gained	128209			BC049844	CCDS508.1	1p34.1	2011-11-15	2006-02-17	2006-02-17	ENSG00000171872	ENSG00000171872		"""Zinc fingers, C2H2-type"", ""Kruppel-like transcription factors"""	18830	protein-coding gene	gene with protein product		609602	"""zinc finger protein 393"""	ZNF393		16460907	Standard	NM_173484		Approved	Zfp393, FLJ40160	uc001clp.3	Q5JT82	OTTHUMG00000009664	ENST00000372299.3:c.724C>T	1.37:g.44595667C>T	ENSP00000361373:p.Gln242*	Somatic		Capture	Illumina HiSeq	Phase_I	44368254	Q86VQ7|Q8N805	Nonsense_Mutation	SNP	ENST00000372299.3	37	CCDS508.1	.	.	.	.	.	.	.	.	.	.	C	13.68	2.310653	0.40895	.	.	ENSG00000171872	ENST00000372299	.	.	.	4.78	0.696	0.18075	.	0.748949	0.11934	N	0.515403	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.17369	T	0.5	.	3.9482	0.09358	0.1546:0.4608:0.2997:0.0849	.	.	.	.	X	242	.	ENSP00000361373:Q242X	Q	+	1	0	KLF17	44368254	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.372000	0.20467	0.146000	0.19002	-0.182000	0.12963	CAG		KLF17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026646.1	NM_173484	
KIF2C	11004	hgsc.bcm.edu	37	1	45213057	45213057	+	Splice_Site	SNP	T	T	C			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr1:45213057T>C	ENST00000372224.4	+	3	280	c.167T>C	c.(166-168)aTt>aCt	p.I56T	KIF2C_ENST00000493027.1_3'UTR|KIF2C_ENST00000372218.4_Splice_Site_p.I56T|KIF2C_ENST00000372217.1_Splice_Site_p.I2T|KIF2C_ENST00000372222.3_5'UTR	NM_006845.3	NP_006836.2	Q99661	KIF2C_HUMAN	kinesin family member 2C	56	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|metabolic process (GO:0008152)|microtubule depolymerization (GO:0007019)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of chromosome segregation (GO:0051983)	chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|centromeric DNA binding (GO:0019237)|microtubule motor activity (GO:0003777)|microtubule plus-end binding (GO:0051010)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					TCCTTGCAGATTGATTTTGAT	0.373																																																	0			1											120.0	117.0	118.0					1																	45213057		2203	4300	6503	44985644	SO:0001630	splice_region_variant	11004			U63743	CCDS512.1, CCDS72774.1	1p34.1	2014-01-21	2003-01-13	2003-01-17	ENSG00000142945	ENSG00000142945		"""Kinesins"""	6393	protein-coding gene	gene with protein product		604538	"""kinesin-like 6 (mitotic centromere-associated kinesin)"""	KNSL6		9434124	Standard	NM_006845		Approved	MCAK, CT139	uc001cmg.4	Q99661	OTTHUMG00000008416	ENST00000372224.4:c.166-1T>C	1.37:g.45213057T>C		Somatic		Capture	Illumina HiSeq	Phase_I	44985644	B3ITR9|Q5JR88|Q6ICU1|Q96C18|Q96HB8|Q9BWV8	Missense_Mutation	SNP	ENST00000372224.4	37	CCDS512.1	.	.	.	.	.	.	.	.	.	.	t	17.52	3.409031	0.62399	.	.	ENSG00000142945	ENST00000452259;ENST00000372224;ENST00000372218;ENST00000455186;ENST00000372217	T;T;T;T;T	0.80994	0.54;-1.44;-1.25;0.15;-1.15	6.07	6.07	0.98685	.	0.224883	0.43260	D	0.000599	D	0.85805	0.5782	M	0.75085	2.285	0.80722	D	1	B;B;P	0.41643	0.244;0.421;0.758	B;B;P	0.49451	0.089;0.221;0.611	D	0.87220	0.2253	10	0.87932	D	0	.	15.1999	0.73126	0.0:0.0:0.0:1.0	.	56;2;56	B7Z6Q6;Q99661-2;Q99661	.;.;KIF2C_HUMAN	T	56;56;56;47;2	ENSP00000410346:I56T;ENSP00000361298:I56T;ENSP00000361292:I56T;ENSP00000395050:I47T;ENSP00000361291:I2T	ENSP00000361291:I2T	I	+	2	0	KIF2C	44985644	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	4.841000	0.62824	2.326000	0.78906	0.533000	0.62120	ATT		KIF2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023180.1	NM_006845	Missense_Mutation
AGBL4	84871	hgsc.bcm.edu	37	1	49100247	49100247	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr1:49100247C>T	ENST00000371839.1	-	9	985	c.869G>A	c.(868-870)cGt>cAt	p.R290H	AGBL4_ENST00000334103.7_Missense_Mutation_p.R23H|AGBL4_ENST00000371838.1_Missense_Mutation_p.R290H	NM_032785.3	NP_116174.3	Q5VU57	CBPC6_HUMAN	ATP/GTP binding protein-like 4	290					C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytosol (GO:0005829)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15				Colorectal(2;0.00349)|COAD - Colon adenocarcinoma(2;0.0037)		CAGCCAGTGACGATTCAGATC	0.468																																																	0			1											85.0	87.0	86.0					1																	49100247		1975	4155	6130	48872834	SO:0001583	missense	84871			AK027348	CCDS44137.1	1p33	2014-06-23			ENSG00000186094	ENSG00000186094			25892	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 6"""					21074048	Standard	NM_032785		Approved	FLJ14442, CCP6	uc001cru.2	Q5VU57	OTTHUMG00000007793	ENST00000371839.1:c.869G>A	1.37:g.49100247C>T	ENSP00000360905:p.Arg290His	Somatic		Capture	Illumina HiSeq	Phase_I	48872834	B3KT26|B4DG37	Missense_Mutation	SNP	ENST00000371839.1	37	CCDS44137.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	33|33	5.194569|5.194569	0.94960|0.94960	.|.	.|.	ENSG00000186094|ENSG00000186094	ENST00000371839;ENST00000411952;ENST00000334103;ENST00000371838|ENST00000416121	T;T;T|.	0.24151|.	1.87;1.87;1.87|.	5.6|5.6	5.6|5.6	0.85130|0.85130	Peptidase M14, carboxypeptidase A (1);|.	0.193068|.	0.56097|.	D|.	0.000029|.	D|D	0.86062|0.86062	0.5843|0.5843	M|M	0.92649|0.92649	3.33|3.33	0.80722|0.80722	D|D	1|1	D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D|.	0.91635|.	0.978;0.953;0.988;0.998;0.999|.	D|D	0.89102|0.89102	0.3490|0.3490	9|5	.|.	.|.	.|.	-18.2076|-18.2076	17.0797|17.0797	0.86595|0.86595	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	105;302;23;135;290|.	A0AVJ2;Q5VU57-2;B4DGK1;B1AMW2;Q5VU57|.	.;.;.;.;CBPC6_HUMAN|.	H|I	290;284;23;290|136	ENSP00000360905:R290H;ENSP00000335516:R23H;ENSP00000360904:R290H|.	.|.	R|V	-|-	2|1	0|0	AGBL4|AGBL4	48872834|48872834	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.994000|0.994000	0.84299|0.84299	6.832000|6.832000	0.75329|0.75329	2.636000|2.636000	0.89361|0.89361	0.462000|0.462000	0.41574|0.41574	CGT|GTC		AGBL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021346.4	NM_032785	
SNX7	51375	hgsc.bcm.edu	37	1	99203797	99203797	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr1:99203797C>T	ENST00000306121.3	+	8	1139	c.1130C>T	c.(1129-1131)cCa>cTa	p.P377L	SNX7_ENST00000529992.1_Missense_Mutation_p.P322L|SNX7_ENST00000370189.5_Intron	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	313					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		ATTCAGCTTCCAGAGGAGATT	0.343																																																	0			1											81.0	84.0	83.0					1																	99203797		2203	4300	6503	98976385	SO:0001583	missense	51375			AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"""Sorting nexins"""	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.1130C>T	1.37:g.99203797C>T	ENSP00000304429:p.Pro377Leu	Somatic		Capture	Illumina HiSeq	Phase_I	98976385	A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	ENST00000306121.3	37	CCDS755.2	.	.	.	.	.	.	.	.	.	.	C	10.93	1.491015	0.26774	.	.	ENSG00000162627	ENST00000529992;ENST00000306121	T;T	0.20738	2.05;2.05	5.76	4.84	0.62591	.	0.621133	0.17781	N	0.162239	T	0.07503	0.0189	L	0.29908	0.895	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.09377	0.004;0.003	T	0.09058	-1.0692	10	0.33141	T	0.24	-9.8813	13.0876	0.59151	0.2917:0.7083:0.0:0.0	.	322;377	E9PNL2;Q9UNH6-3	.;.	L	322;377	ENSP00000434731:P322L;ENSP00000304429:P377L	ENSP00000304429:P377L	P	+	2	0	SNX7	98976385	1.000000	0.71417	0.999000	0.59377	0.539000	0.34962	1.733000	0.38156	1.408000	0.46895	0.591000	0.81541	CCA		SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2		
FAM63A	55793	hgsc.bcm.edu	37	1	150972986	150972986	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr1:150972986C>A	ENST00000361936.5	-	6	1636	c.682G>T	c.(682-684)Gtc>Ttc	p.V228F	FAM63A_ENST00000493834.2_Missense_Mutation_p.V133F|FAM63A_ENST00000361738.6_Missense_Mutation_p.V276F|FAM63A_ENST00000312210.5_Missense_Mutation_p.V86F|FAM63A_ENST00000470877.1_Intron	NM_018379.4	NP_060849	Q8N5J2	FA63A_HUMAN	family with sequence similarity 63, member A	228						extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(3)|large_intestine(4)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGGTCAAAGACACTGCACTCG	0.532																																																	0			1											105.0	98.0	100.0					1																	150972986		2203	4300	6503	149239610	SO:0001583	missense	55793			BC032321	CCDS976.1, CCDS30854.1, CCDS53361.1, CCDS55635.1	1q21.2	2008-02-05			ENSG00000143409	ENSG00000143409			25648	protein-coding gene	gene with protein product						10718198	Standard	NM_001040217		Approved	FLJ11280	uc010pcn.2	Q8N5J2	OTTHUMG00000035061	ENST00000361936.5:c.682G>T	1.37:g.150972986C>A	ENSP00000354814:p.Val228Phe	Somatic		Capture	Illumina HiSeq	Phase_I	149239610	B3KWP4|B3KWV8|B4DXF2|B4E1S4|D3DV09|J3KP53|Q5SZF0|Q9NUL9|Q9P2F7	Missense_Mutation	SNP	ENST00000361936.5	37	CCDS976.1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.968842	0.53614	.	.	ENSG00000143409	ENST00000312210;ENST00000361936;ENST00000361738;ENST00000493834	T;T;T;T	0.48836	0.8;0.82;0.8;0.83	4.82	-2.37	0.06643	.	0.262290	0.36628	N	0.002487	T	0.44265	0.1285	M	0.65498	2.005	0.46774	D	0.99919	B;D	0.53885	0.2;0.963	B;P	0.59171	0.087;0.853	T	0.52003	-0.8633	10	0.59425	D	0.04	-4.9573	10.7418	0.46158	0.0:0.6334:0.0:0.3666	.	276;228	Q8N5J2-3;Q8N5J2	.;FA63A_HUMAN	F	86;228;276;133	ENSP00000310923:V86F;ENSP00000354814:V228F;ENSP00000354669:V276F;ENSP00000437174:V133F	ENSP00000310923:V86F	V	-	1	0	FAM63A	149239610	0.312000	0.24545	0.113000	0.21522	0.472000	0.32918	0.933000	0.28897	-0.723000	0.04915	0.563000	0.77884	GTC		FAM63A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411753.1	NM_018379	
ASH1L	55870	hgsc.bcm.edu	37	1	155451193	155451193	+	Missense_Mutation	SNP	A	A	C			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr1:155451193A>C	ENST00000368346.3	-	3	2107	c.1468T>G	c.(1468-1470)Ttg>Gtg	p.L490V	ASH1L_ENST00000392403.3_Missense_Mutation_p.L490V			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	490					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCTTTCTCCAAATTAATGATT	0.358																																																	0			1											71.0	67.0	68.0					1																	155451193		2203	4300	6503	153717817	SO:0001583	missense	55870			AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.1468T>G	1.37:g.155451193A>C	ENSP00000357330:p.Leu490Val	Somatic		Capture	Illumina HiSeq	Phase_I	153717817	Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37		.	.	.	.	.	.	.	.	.	.	A	11.01	1.513156	0.27123	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	D;D	0.88201	-2.35;-2.35	5.08	5.08	0.68730	.	0.209267	0.32703	N	0.005752	T	0.67618	0.2912	N	0.14661	0.345	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.08055	0.001;0.003	T	0.66316	-0.5954	10	0.31617	T	0.26	.	9.7392	0.40406	0.777:0.223:0.0:0.0	.	490;490	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	V	490	ENSP00000357330:L490V;ENSP00000376204:L490V	ENSP00000357330:L490V	L	-	1	2	ASH1L	153717817	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.526000	0.35964	2.261000	0.74972	0.533000	0.62120	TTG		ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489	
FCRL1	115350	hgsc.bcm.edu	37	1	157771888	157771888	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr1:157771888A>G	ENST00000368176.3	-	5	770	c.703T>C	c.(703-705)Tct>Cct	p.S235P	FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000358292.3_Missense_Mutation_p.S235P|FCRL1_ENST00000491942.1_Missense_Mutation_p.S235P	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	235	Ig-like C2-type 3.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			ATCGGAGGAGAGCCTCTCAGG	0.612																																					GBM(54;482 1003 11223 30131 35730)												0			1											42.0	43.0	43.0					1																	157771888		2203	4300	6503	156038512	SO:0001583	missense	115350			BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.703T>C	1.37:g.157771888A>G	ENSP00000357158:p.Ser235Pro	Somatic		Capture	Illumina HiSeq	Phase_I	156038512	B2RE05|Q8N759|Q8NDI0|Q96PJ6	Missense_Mutation	SNP	ENST00000368176.3	37	CCDS1170.1	.	.	.	.	.	.	.	.	.	.	A	14.53	2.562149	0.45590	.	.	ENSG00000163534	ENST00000358292;ENST00000368176;ENST00000491942	T;T;T	0.02177	4.41;4.41;4.41	4.96	4.96	0.65561	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.205916	0.35466	N	0.003189	T	0.07773	0.0195	M	0.86097	2.795	0.35420	D	0.793136	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.83275	0.996;0.994;0.985	T	0.01108	-1.1449	9	.	.	.	.	11.2038	0.48758	1.0:0.0:0.0:0.0	.	235;235;235	Q96LA6-3;Q96LA6-2;Q96LA6	.;.;FCRL1_HUMAN	P	235	ENSP00000351039:S235P;ENSP00000357158:S235P;ENSP00000418130:S235P	.	S	-	1	0	FCRL1	156038512	1.000000	0.71417	0.984000	0.44739	0.035000	0.12851	2.746000	0.47467	2.193000	0.70182	0.533000	0.62120	TCT		FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051401.1	NM_052938	
ATP1A4	480	hgsc.bcm.edu	37	1	160128841	160128841	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr1:160128841A>G	ENST00000368081.4	+	5	1046	c.575A>G	c.(574-576)gAg>gGg	p.E192G		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	192					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AATGTACAAGAGGTGGTGTTG	0.493																																																	0			1											131.0	116.0	121.0					1																	160128841		2203	4300	6503	158395465	SO:0001583	missense	480			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.575A>G	1.37:g.160128841A>G	ENSP00000357060:p.Glu192Gly	Somatic		Capture	Illumina HiSeq	Phase_I	158395465	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	A	11.26	1.585415	0.28268	.	.	ENSG00000132681	ENST00000368081	D	0.92299	-3.01	4.86	4.86	0.63082	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	1.102020	0.06700	N	0.771276	D	0.90689	0.7079	M	0.87456	2.885	0.80722	D	1	B	0.02656	0.0	B	0.12156	0.007	D	0.85585	0.1242	10	0.56958	D	0.05	.	12.7189	0.57131	1.0:0.0:0.0:0.0	.	192	Q13733	AT1A4_HUMAN	G	192	ENSP00000357060:E192G	ENSP00000357060:E192G	E	+	2	0	ATP1A4	158395465	0.070000	0.21116	0.004000	0.12327	0.009000	0.06853	3.661000	0.54503	1.948000	0.56530	0.459000	0.35465	GAG		ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1	NM_144699	
TNR	7143	hgsc.bcm.edu	37	1	175372552	175372552	+	Missense_Mutation	SNP	G	G	A	rs371035988		TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr1:175372552G>A	ENST00000367674.2	-	4	1408	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	TNR_ENST00000263525.2_Missense_Mutation_p.R234W			Q92752	TENR_HUMAN	tenascin R	234	Cys-rich.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GTTGGGCACCGGAGTTCGGAA	0.652																																																	0			1						G	TRP/ARG	0,4406		0,0,2203	99.0	92.0	94.0		700	6.2	1.0	1		94	2,8598	2.2+/-6.3	0,2,4298	no	missense	TNR	NM_003285.2	101	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging	234/1359	175372552	2,13004	2203	4300	6503	173639175	SO:0001583	missense	7143			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.700C>T	1.37:g.175372552G>A	ENSP00000356646:p.Arg234Trp	Somatic		Capture	Illumina HiSeq	Phase_I	173639175	C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	ENST00000367674.2	37	CCDS1318.1	.	.	.	.	.	.	.	.	.	.	G	24.9	4.584818	0.86748	0.0	2.33E-4	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.03330	3.97;3.97	6.17	6.17	0.99709	.	0.063688	0.64402	D	0.000003	T	0.11410	0.0278	L	0.37697	1.125	0.52501	D	0.999955	D;D	0.89917	1.0;1.0	D;D	0.79784	0.993;0.935	T	0.00540	-1.1681	10	0.66056	D	0.02	.	13.6552	0.62333	0.0706:0.0:0.9294:0.0	.	234;234	B4DIX8;Q92752	.;TENR_HUMAN	W	234	ENSP00000356646:R234W;ENSP00000263525:R234W	ENSP00000263525:R234W	R	-	1	2	TNR	173639175	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.527000	0.67123	2.941000	0.99782	0.655000	0.94253	CGG		TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084414.4	NM_003285	
ASPM	259266	hgsc.bcm.edu	37	1	197072050	197072050	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr1:197072050T>C	ENST00000367409.4	-	18	6587	c.6331A>G	c.(6331-6333)Aga>Gga	p.R2111G	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2111	IQ 16. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGAATATGTCTTCTAACTCTA	0.328																																																	0			1											110.0	117.0	114.0					1																	197072050		2203	4297	6500	195338673	SO:0001583	missense	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.6331A>G	1.37:g.197072050T>C	ENSP00000356379:p.Arg2111Gly	Somatic		Capture	Illumina HiSeq	Phase_I	195338673	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	t	12.01	1.810845	0.32053	.	.	ENSG00000066279	ENST00000367409	T	0.72942	-0.7	5.59	4.44	0.53790	.	0.134493	0.51477	D	0.000099	D	0.86871	0.6037	H	0.94582	3.555	0.09310	N	0.999993	D	0.60160	0.987	D	0.67231	0.95	T	0.81165	-0.1057	10	0.87932	D	0	.	12.0466	0.53483	0.0:0.0:0.3364:0.6636	.	2111	Q8IZT6	ASPM_HUMAN	G	2111	ENSP00000356379:R2111G	ENSP00000356379:R2111G	R	-	1	2	ASPM	195338673	0.017000	0.18338	0.362000	0.25862	0.421000	0.31385	0.304000	0.19228	0.916000	0.36871	0.520000	0.50463	AGA		ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136	
KDM5B	10765	hgsc.bcm.edu	37	1	202699028	202699028	+	Missense_Mutation	SNP	T	T	C	rs34591577		TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr1:202699028T>C	ENST00000367265.3	-	26	5468	c.4304A>G	c.(4303-4305)aAg>aGg	p.K1435R	KDM5B_ENST00000367264.2_Missense_Mutation_p.K1471R	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1435	Poly-Lys.				histone H3-K4 demethylation (GO:0034720)|histone H3-K4 demethylation, trimethyl-H3-K4-specific (GO:0034721)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-dimethyl-K4 specific) (GO:0034648)|histone demethylase activity (H3-trimethyl-K4 specific) (GO:0034647)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)	p.K1572R(1)		breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GATTTTCTTCTTTTTGGGGGT	0.458																																																	1	Substitution - Missense(1)	breast(1)	1											199.0	190.0	193.0					1																	202699028		2203	4300	6503	200965651	SO:0001583	missense	10765			AJ243706	CCDS30974.1	1q32.1	2014-06-12	2009-04-06	2009-04-06	ENSG00000117139	ENSG00000117139		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	18039	protein-coding gene	gene with protein product	"""cancer/testis antigen 31"", ""protein phosphatase 1, regulatory subunit 98"""	605393	"""Jumonji, AT rich interactive domain 1B (RBP2-like)"", ""jumonji, AT rich interactive domain 1B"""	JARID1B		11483573, 11478881	Standard	NM_006618		Approved	RBBP2H1A, PLU-1, CT31, PPP1R98	uc001gyf.3	Q9UGL1	OTTHUMG00000041401	ENST00000367265.3:c.4304A>G	1.37:g.202699028T>C	ENSP00000356234:p.Lys1435Arg	Somatic		Capture	Illumina HiSeq	Phase_I	200965651	O95811|Q15752|Q9Y3Q5	Missense_Mutation	SNP	ENST00000367265.3	37	CCDS30974.1	.	.	.	.	.	.	.	.	.	.	T	11.83	1.756501	0.31137	.	.	ENSG00000117139	ENST00000367265;ENST00000538292;ENST00000367264	D;D	0.87809	-2.3;-2.12	5.23	4.1	0.47936	.	0.239296	0.43416	N	0.000579	T	0.81959	0.4933	L	0.55481	1.735	0.42331	D	0.992295	B;B	0.09022	0.002;0.001	B;B	0.11329	0.006;0.002	T	0.73135	-0.4078	10	0.14656	T	0.56	-18.6395	10.7594	0.46256	0.0:0.0748:0.0:0.9252	.	1471;1435	Q9UGL1-2;Q9UGL1	.;KDM5B_HUMAN	R	1435;1277;1471	ENSP00000356234:K1435R;ENSP00000356233:K1471R	ENSP00000356233:K1471R	K	-	2	0	KDM5B	200965651	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.003000	0.57061	0.835000	0.34877	0.528000	0.53228	AAG		KDM5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099184.2	NM_006618	
MARK1	4139	hgsc.bcm.edu	37	1	220809239	220809239	+	Silent	SNP	T	T	C			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr1:220809239T>C	ENST00000366917.4	+	13	1607	c.1341T>C	c.(1339-1341)agT>agC	p.S447S	MARK1_ENST00000402574.1_Silent_p.S312S|MARK1_ENST00000366918.4_Silent_p.S425S					MAP/microtubule affinity-regulating kinase 1											central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		GTGTGGAAAGTGAACAGAAAG	0.433																																																	0			1											102.0	99.0	100.0					1																	220809239		2203	4300	6503	218875862	SO:0001819	synonymous_variant	4139			AF154845	CCDS31029.2, CCDS65789.1, CCDS73033.1, CCDS73034.1	1q41	2013-06-27			ENSG00000116141	ENSG00000116141			6896	protein-coding gene	gene with protein product		606511				9108484	Standard	NM_018650		Approved	MARK, PAR-1C	uc001hmn.4	Q9P0L2	OTTHUMG00000037351	ENST00000366917.4:c.1341T>C	1.37:g.220809239T>C		Somatic		Capture	Illumina HiSeq	Phase_I	218875862		Silent	SNP	ENST00000366917.4	37	CCDS31029.2																																																																																				MARK1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090899.1		
TRIM11	81559	hgsc.bcm.edu	37	1	228589824	228589824	+	Silent	SNP	C	C	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr1:228589824C>T	ENST00000284551.6	-	2	725	c.447G>A	c.(445-447)caG>caA	p.Q149Q	TRIM11_ENST00000366699.3_Silent_p.Q149Q|TRIM11_ENST00000493030.2_Silent_p.Q24Q|TRIM11_ENST00000460651.1_5'Flank	NM_145214.2	NP_660215.1	Q96F44	TRI11_HUMAN	tripartite motif containing 11	149					defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of neurogenesis (GO:0050768)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of viral entry into host cell (GO:0046598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				CATCCTGCATCTGCTTCCGGA	0.627																																																	0			1											86.0	73.0	78.0					1																	228589824		2203	4300	6503	226656447	SO:0001819	synonymous_variant	81559			AF220125	CCDS31048.1	1q42.13	2013-01-09	2011-01-25		ENSG00000154370	ENSG00000154370		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16281	protein-coding gene	gene with protein product		607868	"""tripartite motif-containing 11"""			11331580	Standard	NM_145214		Approved	RNF92, BIA1	uc001hss.3	Q96F44	OTTHUMG00000039773	ENST00000284551.6:c.447G>A	1.37:g.228589824C>T		Somatic		Capture	Illumina HiSeq	Phase_I	226656447	A6NKE2|B2RB82|B3KUS3|B4DX88|Q5VSU1|Q8NCA6|Q9C022	Silent	SNP	ENST00000284551.6	37	CCDS31048.1																																																																																				TRIM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095995.3	NM_145214	
GNPAT	8443	hgsc.bcm.edu	37	1	231408063	231408063	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr1:231408063G>A	ENST00000366647.4	+	11	1697	c.1528G>A	c.(1528-1530)Gtc>Atc	p.V510I	GNPAT_ENST00000366646.3_Missense_Mutation_p.V449I	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	510					cellular lipid metabolic process (GO:0044255)|cerebellum morphogenesis (GO:0021587)|ether lipid biosynthetic process (GO:0008611)|glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|paranodal junction assembly (GO:0030913)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to fatty acid (GO:0070542)|response to nutrient (GO:0007584)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)|synapse assembly (GO:0007416)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	glycerone-phosphate O-acyltransferase activity (GO:0016287)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)	p.V510F(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TCCAGAGGATGTCTACAGTTG	0.373																																																	1	Substitution - Missense(1)	ovary(1)	1											304.0	290.0	294.0					1																	231408063		2203	4300	6503	229474686	SO:0001583	missense	8443			AF043937	CCDS1592.1	1q42	2008-02-05			ENSG00000116906	ENSG00000116906	2.3.1.42		4416	protein-coding gene	gene with protein product		602744				9459311, 9536089	Standard	NM_014236		Approved	DHAPAT, DAPAT, DAP-AT	uc001hup.4	O15228	OTTHUMG00000038024	ENST00000366647.4:c.1528G>A	1.37:g.231408063G>A	ENSP00000355607:p.Val510Ile	Somatic		Capture	Illumina HiSeq	Phase_I	229474686	B4DNM9|Q5TBH7|Q9BWC2	Missense_Mutation	SNP	ENST00000366647.4	37	CCDS1592.1	.	.	.	.	.	.	.	.	.	.	G	10.89	1.477077	0.26511	.	.	ENSG00000116906	ENST00000366647;ENST00000366646;ENST00000416000	T;T;T	0.63417	-0.02;-0.02;-0.04	4.71	2.83	0.33086	.	0.205916	0.42964	D	0.000640	T	0.38480	0.1042	N	0.16743	0.435	0.46678	D	0.999151	B;B	0.11235	0.004;0.002	B;B	0.16289	0.015;0.004	T	0.11991	-1.0565	10	0.10636	T	0.68	.	7.9026	0.29744	0.3087:0.0:0.6913:0.0	.	449;510	B4DNM9;O15228	.;GNPAT_HUMAN	I	510;449;500	ENSP00000355607:V510I;ENSP00000355606:V449I;ENSP00000411640:V500I	ENSP00000355606:V449I	V	+	1	0	GNPAT	229474686	0.999000	0.42202	1.000000	0.80357	0.969000	0.65631	1.325000	0.33724	1.339000	0.45563	0.563000	0.77884	GTC		GNPAT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092871.1		
ADSS	159	hgsc.bcm.edu	37	1	244587341	244587341	+	Silent	SNP	G	G	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr1:244587341G>A	ENST00000366535.3	-	6	811	c.495C>T	c.(493-495)ggC>ggT	p.G165G	ADSS_ENST00000462358.1_5'UTR	NM_001126.3	NP_001117.2			adenylosuccinate synthase									p.G165G(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)			CTGGGCCAATGCCCTTTTTTG	0.423																																																	1	Substitution - coding silent(1)	ovary(1)	1											59.0	56.0	57.0					1																	244587341		2203	4300	6503	242653964	SO:0001819	synonymous_variant	159			BC012356	CCDS1624.1	1q44	2008-02-05			ENSG00000035687	ENSG00000035687	6.3.4.4		292	protein-coding gene	gene with protein product		103060				2004783, 1592113	Standard	NM_001126		Approved		uc001iaj.3	P30520	OTTHUMG00000040102	ENST00000366535.3:c.495C>T	1.37:g.244587341G>A		Somatic		Capture	Illumina HiSeq	Phase_I	242653964		Silent	SNP	ENST00000366535.3	37	CCDS1624.1																																																																																				ADSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096697.1	NM_001126	
OR2M2	391194	hgsc.bcm.edu	37	1	248343304	248343304	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr1:248343304A>G	ENST00000359682.2	+	1	17	c.17A>G	c.(16-18)cAg>cGg	p.Q6R		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.Q6R(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGGGAGAATCAGACCTTCAAC	0.423																																																	1	Substitution - Missense(1)	ovary(1)	1											198.0	195.0	196.0					1																	248343304		2203	4300	6503	246409927	SO:0001583	missense	391194			AF399616	CCDS31106.1	1q44	2012-08-09			ENSG00000198601	ENSG00000198601		"""GPCR / Class A : Olfactory receptors"""	8268	protein-coding gene	gene with protein product						12213199	Standard	NM_001004688		Approved	OST423, OR2M2Q	uc010pzf.2	Q96R28	OTTHUMG00000040460	ENST00000359682.2:c.17A>G	1.37:g.248343304A>G	ENSP00000352710:p.Gln6Arg	Somatic		Capture	Illumina HiSeq	Phase_I	246409927	A3KFT4	Missense_Mutation	SNP	ENST00000359682.2	37	CCDS31106.1	.	.	.	.	.	.	.	.	.	.	a	12.92	2.082954	0.36758	.	.	ENSG00000198601	ENST00000359682	T	0.00262	8.4	1.44	1.44	0.22558	.	0.306691	0.17821	U	0.160853	T	0.00144	0.0004	L	0.41906	1.305	0.21290	N	0.999737	B	0.34264	0.446	B	0.35182	0.197	T	0.26573	-1.0099	10	0.52906	T	0.07	.	7.7689	0.28997	1.0:0.0:0.0:0.0	.	6	Q96R28	OR2M2_HUMAN	R	6	ENSP00000352710:Q6R	ENSP00000352710:Q6R	Q	+	2	0	OR2M2	246409927	0.000000	0.05858	0.062000	0.19696	0.564000	0.35744	0.030000	0.13688	0.651000	0.30788	0.248000	0.18094	CAG		OR2M2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097356.2	NM_001004688	
PSMD13	5719	hgsc.bcm.edu	37	11	247370	247370	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr11:247370C>A	ENST00000532097.1	+	7	994	c.490C>A	c.(490-492)Caa>Aaa	p.Q164K	PSMD13_ENST00000431206.2_Missense_Mutation_p.Q166K|PSMD13_ENST00000352303.5_Missense_Mutation_p.Q164K	NM_002817.3	NP_002808.3	Q9UNM6	PSD13_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 13	164					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)|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)|meiosis I (GO:0007127)|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)|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)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)		p.Q164E(1)|p.Q166E(1)		NS(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	10		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;7.79e-27)|Epithelial(43;4e-26)|OV - Ovarian serous cystadenocarcinoma(40;6.02e-21)|BRCA - Breast invasive adenocarcinoma(625;3.93e-05)|Lung(200;0.112)|LUSC - Lung squamous cell carcinoma(625;0.129)		TAAATACTATCAAACAATCGG	0.423																																																	2	Substitution - Missense(2)	ovary(2)	11											113.0	97.0	103.0					11																	247370		2203	4300	6503	237370	SO:0001583	missense	5719			AB009398	CCDS7692.1, CCDS44504.1	11p15.5	2008-05-22			ENSG00000185627	ENSG00000185627		"""Proteasome (prosome, macropain) subunits"""	9558	protein-coding gene	gene with protein product		603481				9714768, 8811196	Standard	NM_002817		Approved	p40.5, Rpn9	uc001loo.2	Q9UNM6	OTTHUMG00000119072	ENST00000532097.1:c.490C>A	11.37:g.247370C>A	ENSP00000436186:p.Gln164Lys	Somatic		Capture	Illumina HiSeq	Phase_I	237370	B3KT15|O75831|Q53XU2|Q9UNV3	Missense_Mutation	SNP	ENST00000532097.1	37	CCDS7692.1	.	.	.	.	.	.	.	.	.	.	C	16.42	3.119120	0.56505	.	.	ENSG00000185627	ENST00000532097;ENST00000538343;ENST00000431206;ENST00000528906;ENST00000352303	T;T;T;T	0.12569	2.67;2.68;2.69;2.7	5.71	5.71	0.89125	.	0.275074	0.42294	D	0.000734	T	0.09512	0.0234	N	0.17901	0.54	0.52099	D	0.999944	B;B;B;B	0.22003	0.063;0.001;0.004;0.004	B;B;B;B	0.18871	0.023;0.004;0.003;0.003	T	0.07693	-1.0759	10	0.02654	T	1	.	18.8888	0.92389	0.0:1.0:0.0:0.0	.	166;99;164;164	Q9UNM6-2;B4DJ66;B2RBM7;Q9UNM6	.;.;.;PSD13_HUMAN	K	164;99;166;126;164	ENSP00000436186:Q164K;ENSP00000396937:Q166K;ENSP00000433364:Q126K;ENSP00000333811:Q164K	ENSP00000333811:Q164K	Q	+	1	0	PSMD13	237370	1.000000	0.71417	0.986000	0.45419	0.898000	0.52572	6.076000	0.71267	2.890000	0.99128	0.650000	0.86243	CAA		PSMD13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239286.2	NM_002817	
OR56B4	196335	hgsc.bcm.edu	37	11	6129813	6129813	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr11:6129813G>T	ENST00000316529.3	+	1	900	c.805G>T	c.(805-807)Gca>Tca	p.A269S	RP11-290F24.3_ENST00000529961.1_RNA	NM_001005181.1	NP_001005181.1	Q8NH76	O56B4_HUMAN	olfactory receptor, family 56, subfamily B, member 4	269						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A269T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACACACCTTGCAGAGAAAAA	0.512																																																	1	Substitution - Missense(1)	central_nervous_system(1)	11											115.0	114.0	114.0					11																	6129813		2201	4296	6497	6086389	SO:0001583	missense	196335			AB065513	CCDS31406.1	11p15.4	2012-08-09			ENSG00000180919	ENSG00000180919		"""GPCR / Class A : Olfactory receptors"""	15248	protein-coding gene	gene with protein product							Standard	NM_001005181		Approved		uc010qzx.2	Q8NH76	OTTHUMG00000165531	ENST00000316529.3:c.805G>T	11.37:g.6129813G>T	ENSP00000321196:p.Ala269Ser	Somatic		Capture	Illumina HiSeq	Phase_I	6086389	Q6IFD7	Missense_Mutation	SNP	ENST00000316529.3	37	CCDS31406.1	.	.	.	.	.	.	.	.	.	.	G	10.69	1.420475	0.25639	.	.	ENSG00000180919	ENST00000316529	T	0.00019	9.06	4.01	4.01	0.46588	.	0.209872	0.23569	U	0.046772	T	0.00178	0.0005	L	0.53617	1.68	0.09310	N	1	B	0.33919	0.432	B	0.39531	0.302	T	0.32481	-0.9905	10	0.72032	D	0.01	.	12.0357	0.53423	0.0:0.0:0.815:0.185	.	269	Q8NH76	O56B4_HUMAN	S	269	ENSP00000321196:A269S	ENSP00000321196:A269S	A	+	1	0	OR56B4	6086389	0.007000	0.16637	0.137000	0.22149	0.773000	0.43773	1.281000	0.33214	2.220000	0.72140	0.549000	0.68633	GCA		OR56B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384668.1	NM_001005181	
MADD	8567	hgsc.bcm.edu	37	11	47310525	47310525	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr11:47310525G>A	ENST00000311027.5	+	16	2825	c.2660G>A	c.(2659-2661)gGg>gAg	p.G887E	MADD_ENST00000402799.1_Intron|MADD_ENST00000342922.4_Intron|MADD_ENST00000402192.2_Intron|MADD_ENST00000406482.1_Intron|MADD_ENST00000407859.3_Missense_Mutation_p.G844E|MADD_ENST00000349238.3_Missense_Mutation_p.G887E|MADD_ENST00000395344.3_Intron|MADD_ENST00000395336.3_Missense_Mutation_p.G887E	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CCAGTATTTGGGCTAAATACT	0.473																																																	0			11											166.0	173.0	171.0					11																	47310525		2201	4298	6499	47267101	SO:0001583	missense	8567			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.2660G>A	11.37:g.47310525G>A	ENSP00000310933:p.Gly887Glu	Somatic		Capture	Illumina HiSeq	Phase_I	47267101		Missense_Mutation	SNP	ENST00000311027.5	37	CCDS7930.1	.	.	.	.	.	.	.	.	.	.	G	33	5.199168	0.94997	.	.	ENSG00000110514	ENST00000349238;ENST00000311027;ENST00000407859;ENST00000395336	T;T;T;T	0.07021	3.46;3.48;3.23;3.47	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.20981	0.0505	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	T	0.00651	-1.1626	10	0.59425	D	0.04	-21.928	20.422	0.99049	0.0:0.0:1.0:0.0	.	887;887;844;887	Q8WXG6-7;Q8WXG6-2;Q8WXG6-4;Q8WXG6	.;.;.;MADD_HUMAN	E	887;887;844;887	ENSP00000304505:G887E;ENSP00000310933:G887E;ENSP00000384204:G844E;ENSP00000378745:G887E	ENSP00000310933:G887E	G	+	2	0	MADD	47267101	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.832000	0.97577	0.655000	0.94253	GGG		MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1		
SYT7	9066	hgsc.bcm.edu	37	11	61295556	61295556	+	Silent	SNP	C	C	T	rs372903756		TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr11:61295556C>T	ENST00000263846.4	-	5	780	c.453G>A	c.(451-453)acG>acA	p.T151T	SYT7_ENST00000539008.1_Silent_p.T434T|SYT7_ENST00000540677.1_Silent_p.T226T|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000535826.1_Silent_p.T270T|SYT7_ENST00000542670.1_Silent_p.T359T|SYT7_ENST00000542836.1_Silent_p.T195T	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	151	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.				exocytosis (GO:0006887)|plasma membrane repair (GO:0001778)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|transporter activity (GO:0005215)			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TCACGGTGAGCGTGGACTCCT	0.622																																																	0			11						C		0,4404		0,0,2202	73.0	77.0	75.0		453	-4.3	1.0	11		75	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	SYT7	NM_004200.2		0,1,6500	TT,TC,CC		0.0116,0.0,0.0077		151/404	61295556	1,13001	2202	4299	6501	61052132	SO:0001819	synonymous_variant	9066			AF038535	CCDS31577.1, CCDS58139.1, CCDS73298.1	11q12-q13.1	2013-01-21			ENSG00000011347	ENSG00000011347		"""Synaptotagmins"""	11514	protein-coding gene	gene with protein product		604146	"""prostate cancer associated protein 7"""	PCANAP7		9615227	Standard	NM_001252065		Approved	IPCA-7, SYT-VII, MGC150517	uc009ynr.3	O43581	OTTHUMG00000168199	ENST00000263846.4:c.453G>A	11.37:g.61295556C>T		Somatic		Capture	Illumina HiSeq	Phase_I	61052132	F5GZU9|Q08AH6	Silent	SNP	ENST00000263846.4	37	CCDS31577.1																																																																																				SYT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398733.1	NM_004200	
SF1	7536	hgsc.bcm.edu	37	11	64544047	64544047	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr11:64544047T>C	ENST00000377390.3	-	2	420	c.83A>G	c.(82-84)gAa>gGa	p.E28G	SF1_ENST00000422298.2_5'UTR|SF1_ENST00000377387.1_Missense_Mutation_p.E153G|SF1_ENST00000433274.2_Missense_Mutation_p.E2G|AP001462.6_ENST00000594089.1_lincRNA|SF1_ENST00000227503.9_Missense_Mutation_p.E28G|SF1_ENST00000377394.3_Missense_Mutation_p.E28G|SF1_ENST00000334944.5_Missense_Mutation_p.E28G	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	28					Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TGTCTTCTGTTCCATTGTGTC	0.423																																																	0			11											156.0	146.0	150.0					11																	64544047		2201	4297	6498	64300623	SO:0001583	missense	7536			D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.83A>G	11.37:g.64544047T>C	ENSP00000366607:p.Glu28Gly	Somatic		Capture	Illumina HiSeq	Phase_I	64300623	B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	ENST00000377390.3	37	CCDS31599.1	.	.	.	.	.	.	.	.	.	.	T	18.68	3.676175	0.67928	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000433274;ENST00000432725;ENST00000416674	T;T;T;T;T;T	0.49432	0.8;0.82;0.83;0.82;0.82;0.78	5.32	5.32	0.75619	.	0.056472	0.64402	D	0.000002	T	0.46014	0.1371	L	0.38175	1.15	0.80722	D	1	P;B;B;B;B;B	0.40660	0.726;0.013;0.013;0.016;0.027;0.074	P;B;B;B;B;B	0.46026	0.501;0.008;0.008;0.011;0.026;0.026	T	0.42716	-0.9435	10	0.45353	T	0.12	.	13.2284	0.59927	0.0:0.0:0.0:1.0	.	28;28;28;28;28;153	Q14820;Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;.;SF01_HUMAN;.;.	G	153;28;28;28;28;2;2;28	ENSP00000366604:E153G;ENSP00000366607:E28G;ENSP00000227503:E28G;ENSP00000366611:E28G;ENSP00000334414:E28G;ENSP00000396793:E2G	ENSP00000227503:E28G	E	-	2	0	SF1	64300623	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.633000	0.67825	2.017000	0.59298	0.460000	0.39030	GAA		SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143242.1	NM_004630	
MEN1	4221	hgsc.bcm.edu	37	11	64575485	64575485	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr11:64575485A>G	ENST00000337652.1	-	3	1050	c.547T>C	c.(547-549)Tct>Cct	p.S183P	MEN1_ENST00000377316.2_Missense_Mutation_p.S178P|MEN1_ENST00000315422.4_Missense_Mutation_p.S178P|MEN1_ENST00000394376.1_Missense_Mutation_p.S183P|MEN1_ENST00000377326.3_Missense_Mutation_p.S178P|MEN1_ENST00000394374.2_Missense_Mutation_p.S183P|MEN1_ENST00000443283.1_Missense_Mutation_p.S183P|MEN1_ENST00000312049.6_Missense_Mutation_p.S178P|MEN1_ENST00000377321.1_Missense_Mutation_p.S178P|MEN1_ENST00000478548.1_5'Flank|MEN1_ENST00000377313.1_Missense_Mutation_p.S183P	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	183					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|DNA repair (GO:0006281)|embryonic skeletal system morphogenesis (GO:0048704)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|histone lysine methylation (GO:0034968)|leukocyte homeostasis (GO:0001776)|MAPK cascade (GO:0000165)|maternal process involved in female pregnancy (GO:0060135)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of JNK cascade (GO:0046329)|negative regulation of organ growth (GO:0046621)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of telomerase activity (GO:0051974)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoblast development (GO:0002076)|osteoblast fate commitment (GO:0002051)|palate development (GO:0060021)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell division (GO:0051781)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of histone methylation (GO:0031062)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of activin receptor signaling pathway (GO:0032925)|response to gamma radiation (GO:0010332)|response to UV (GO:0009411)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	chromatin (GO:0000785)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone methyltransferase complex (GO:0035097)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|four-way junction DNA binding (GO:0000400)|protein binding, bridging (GO:0030674)|protein N-terminus binding (GO:0047485)|R-SMAD binding (GO:0070412)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|Y-form DNA binding (GO:0000403)			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						TGATCCTCAGACAGGGCGAGG	0.642			"""D, Mis, N, F, S"""		"""parathyroid tumors, Pancreatic neuroendocrine tumors"""	"""parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"""			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated																												Esophageal Squamous(1;83 158 15500 18603 18803 29295)		yes	Rec	yes	Multiple Endocrine Neoplasia Type 1	11	11q13	4221	multiple endocrine neoplasia type 1 gene		E	0			11											64.0	55.0	58.0					11																	64575485		2201	4297	6498	64332061	SO:0001583	missense	4221	Familial Cancer Database	MEN1, Wermer disease;FIHP, FIHPT, HRPT1, Familial Isolated Primary Hyperparathyroidism	U93236	CCDS8083.1, CCDS31600.1	11q13	2014-09-17			ENSG00000133895	ENSG00000133895			7010	protein-coding gene	gene with protein product	"""menin"""	613733					Standard	NM_130799		Approved		uc001obn.3	O00255	OTTHUMG00000045366	ENST00000337652.1:c.547T>C	11.37:g.64575485A>G	ENSP00000337088:p.Ser183Pro	Somatic		Capture	Illumina HiSeq	Phase_I	64332061	A5HBC6|A5HBC7|A5HBC8|A5HBC9|A5HBD0|A5HBD1|A5HBD2|O00632|Q9BUF0|Q9BUK2	Missense_Mutation	SNP	ENST00000337652.1	37	CCDS8083.1	.	.	.	.	.	.	.	.	.	.	A	25.1	4.606268	0.87157	.	.	ENSG00000133895	ENST00000377316;ENST00000377321;ENST00000377326;ENST00000312049;ENST00000315422;ENST00000337652;ENST00000394376;ENST00000394374;ENST00000443283;ENST00000377313;ENST00000440873;ENST00000450708;ENST00000413626	D;D;D;D;D;D;D;D;D;D;D;D;D	0.99656	-6.31;-6.31;-6.31;-6.31;-6.31;-6.31;-6.31;-6.31;-6.31;-6.31;-6.31;-6.31;-6.31	4.76	4.76	0.60689	.	0.134605	0.51477	D	0.000091	D	0.99438	0.9801	M	0.69358	2.11	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.997;1.0	D;D;D	0.83275	0.989;0.986;0.996	D	0.98479	1.0604	10	0.87932	D	0	-7.9992	12.6037	0.56511	1.0:0.0:0.0:0.0	.	178;178;183	O00255-2;O00255-3;O00255	.;.;MEN1_HUMAN	P	178;178;178;178;178;183;183;183;183;183;178;178;178	ENSP00000366533:S178P;ENSP00000366538:S178P;ENSP00000366543:S178P;ENSP00000308975:S178P;ENSP00000323747:S178P;ENSP00000337088:S183P;ENSP00000377901:S183P;ENSP00000377899:S183P;ENSP00000396940:S183P;ENSP00000366530:S183P;ENSP00000413944:S178P;ENSP00000394933:S178P;ENSP00000411218:S178P	ENSP00000308975:S178P	S	-	1	0	MEN1	64332061	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.395000	0.73228	1.930000	0.55929	0.374000	0.22700	TCT		MEN1-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000143881.1		
DLG2	1740	hgsc.bcm.edu	37	11	83770480	83770480	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr11:83770480A>G	ENST00000532653.1	-	6	784	c.482T>C	c.(481-483)gTt>gCt	p.V161A	DLG2_ENST00000376106.3_5'UTR|DLG2_ENST00000398309.2_Missense_Mutation_p.V161A|DLG2_ENST00000330014.6_Missense_Mutation_p.V100A|DLG2_ENST00000418306.2_Missense_Mutation_p.V110A|DLG2_ENST00000398301.2_Missense_Mutation_p.V200A|DLG2_ENST00000376104.2_Missense_Mutation_p.V266A|DLG2_ENST00000280241.8_Missense_Mutation_p.V200A|DLG2_ENST00000531015.1_Missense_Mutation_p.V128A|DLG2_ENST00000537455.1_5'UTR|DLG2_ENST00000524982.1_Missense_Mutation_p.V161A|DLG2_ENST00000543673.1_Missense_Mutation_p.V266A			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	0					nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				ACTGTGGGAAACCTCTGACAC	0.473																																																	0			11											90.0	82.0	84.0					11																	83770480		1916	4153	6069	83448128	SO:0001583	missense	4355			U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000532653.1:c.482T>C	11.37:g.83770480A>G	ENSP00000435849:p.Val161Ala	Somatic		Capture	Illumina HiSeq	Phase_I	83448128	B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Missense_Mutation	SNP	ENST00000532653.1	37		.	.	.	.	.	.	.	.	.	.	A	24.7	4.560384	0.86335	.	.	ENSG00000150672	ENST00000398309;ENST00000376104;ENST00000418306;ENST00000543673;ENST00000280241;ENST00000330014;ENST00000524982;ENST00000532653;ENST00000546021;ENST00000531015;ENST00000398301;ENST00000398299	T;T;T;T;T;T;T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57;1.57	5.17	5.17	0.71159	PDZ/DHR/GLGF (4);	0.000000	0.64402	D	0.000019	T	0.47248	0.1435	L	0.45352	1.415	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.999;1.0;0.999;1.0;0.993;0.998;0.996;0.999	D;D;D;D;D;D;D;D	0.97110	0.999;0.999;0.993;1.0;0.984;0.998;0.987;0.999	T	0.34650	-0.9820	9	.	.	.	.	15.0062	0.71513	1.0:0.0:0.0:0.0	.	128;161;161;100;200;266;161;110	E9PIW2;B7Z2T4;E9PN83;B7Z264;Q6ZSU2;Q15700-2;Q15700;Q15700-3	.;.;.;.;.;.;DLG2_HUMAN;.	A	161;266;110;266;200;100;161;161;266;128;200;78	ENSP00000381355:V161A;ENSP00000365272:V266A;ENSP00000402275:V110A;ENSP00000441994:V266A;ENSP00000280241:V200A;ENSP00000381353:V100A;ENSP00000432894:V161A;ENSP00000435849:V161A;ENSP00000433848:V128A;ENSP00000381346:V200A;ENSP00000381344:V78A	.	V	-	2	0	DLG2	83448128	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.962000	0.93254	1.959000	0.56917	0.377000	0.23210	GTT		DLG2-009	NOVEL	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000259253.2	NM_001364	
ATM	472	hgsc.bcm.edu	37	11	108142044	108142044	+	Silent	SNP	T	T	C	rs559676197		TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr11:108142044T>C	ENST00000452508.2	+	21	3177	c.2988T>C	c.(2986-2988)caT>caC	p.H996H	ATM_ENST00000278616.4_Silent_p.H996H			Q13315	ATM_HUMAN	ATM serine/threonine kinase	996					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)	p.H996Q(1)		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)	ATGTCCTTCATGTAGTGAAAA	0.353			"""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"""	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	11											180.0	172.0	175.0					11																	108142044		2201	4298	6499	107647254	SO:0001819	synonymous_variant	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.2988T>C	11.37:g.108142044T>C		Somatic		Capture	Illumina HiSeq	Phase_I	107647254	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Silent	SNP	ENST00000452508.2	37	CCDS31669.1																																																																																				ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051	
RDX	5962	hgsc.bcm.edu	37	11	110124812	110124812	+	Missense_Mutation	SNP	C	C	T	rs142346566		TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr11:110124812C>T	ENST00000343115.4	-	9	1137	c.818G>A	c.(817-819)cGt>cAt	p.R273H	RDX_ENST00000528900.1_Intron|RDX_ENST00000528498.1_Missense_Mutation_p.R273H|RDX_ENST00000544551.1_Missense_Mutation_p.R137H|RDX_ENST00000405097.1_Missense_Mutation_p.R273H|RDX_ENST00000530301.1_Intron	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	273	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GATTCTCAGACGAGGTGCATA	0.343													C|||	0	0.0	0.0	0.0	5008	,	,		17407	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(55;25 1062 11040 28755 44273)												0			11											85.0	76.0	79.0					11																	110124812		2201	4298	6499	109630022	SO:0001583	missense	5962			BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.818G>A	11.37:g.110124812C>T	ENSP00000342830:p.Arg273His	Somatic		Capture	Illumina HiSeq	Phase_I	109630022	A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Missense_Mutation	SNP	ENST00000343115.4	37	CCDS8343.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	26.4	4.733416	0.89482	.	.	ENSG00000137710	ENST00000528498;ENST00000429481;ENST00000405097;ENST00000343115;ENST00000544551	D;D;D;D	0.81996	-1.56;-1.56;-1.56;-1.56	5.72	5.72	0.89469	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.91935	0.7446	M	0.85373	2.75	0.80722	D	1	P;D;B	0.76494	0.719;0.999;0.24	B;D;B	0.64506	0.198;0.926;0.085	D	0.92571	0.6066	10	0.87932	D	0	.	19.8831	0.96905	0.0:1.0:0.0:0.0	.	137;273;273	F5H1A7;A7YIJ8;P35241	.;.;RADI_HUMAN	H	273;273;273;273;137	ENSP00000432112:R273H;ENSP00000384136:R273H;ENSP00000342830:R273H;ENSP00000445826:R137H	ENSP00000342830:R273H	R	-	2	0	RDX	109630022	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.765000	0.85310	2.705000	0.92388	0.655000	0.94253	CGT		RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906	
USP28	57646	hgsc.bcm.edu	37	11	113670059	113670059	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr11:113670059G>T	ENST00000003302.4	-	25	3205	c.3137C>A	c.(3136-3138)cCt>cAt	p.P1046H	USP28_ENST00000544967.1_Missense_Mutation_p.P722H|USP28_ENST00000545540.1_Missense_Mutation_p.P889H|USP28_ENST00000260188.5_Missense_Mutation_p.P1014H	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	1046					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.P1046H(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AATTGTTGGAGGCTCTTTCAA	0.458																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)												1	Substitution - Missense(1)	large_intestine(1)	11											122.0	124.0	123.0					11																	113670059		2201	4296	6497	113175269	SO:0001583	missense	57646			AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.3137C>A	11.37:g.113670059G>T	ENSP00000003302:p.Pro1046His	Somatic		Capture	Illumina HiSeq	Phase_I	113175269	B0YJC0|B0YJC1|Q9P213	Missense_Mutation	SNP	ENST00000003302.4	37	CCDS31680.1	.	.	.	.	.	.	.	.	.	.	G	28.4	4.916822	0.92249	.	.	ENSG00000048028	ENST00000003302;ENST00000260188;ENST00000544967;ENST00000545540	T;T;T;T	0.60171	0.69;0.75;0.21;0.78	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.76428	0.3986	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.993;0.999	T	0.77501	-0.2564	10	0.87932	D	0	-21.4559	19.8677	0.96824	0.0:0.0:1.0:0.0	.	889;1046;722	B4E3L3;Q96RU2;G3V1N5	.;UBP28_HUMAN;.	H	1046;1014;722;889	ENSP00000003302:P1046H;ENSP00000260188:P1014H;ENSP00000442431:P722H;ENSP00000444991:P889H	ENSP00000003302:P1046H	P	-	2	0	USP28	113175269	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.361000	0.97122	2.709000	0.92574	0.655000	0.94253	CCT		USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1		
USP28	57646	hgsc.bcm.edu	37	11	113701632	113701632	+	Silent	SNP	C	C	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr11:113701632C>T	ENST00000003302.4	-	9	935	c.867G>A	c.(865-867)gtG>gtA	p.V289V	USP28_ENST00000544967.1_5'Flank|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000545540.1_Silent_p.V164V|USP28_ENST00000537706.1_Silent_p.V289V|USP28_ENST00000260188.5_Silent_p.V289V	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	289	USP.			VQLFYGTFLTEGVRE -> IVIVMSFLKSLSLCL (in Ref. 4; BAA96039). {ECO:0000305}.	cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|protein deubiquitination (GO:0016579)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.V289V(1)		breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AGAACAGCTGCACCATTGGAT	0.373																																					Melanoma(4;162 555 7664)|GBM(79;500 2010 17506)|Esophageal Squamous(9;463 924 15765)												1	Substitution - coding silent(1)	kidney(1)	11											171.0	162.0	165.0					11																	113701632		2201	4296	6497	113206842	SO:0001819	synonymous_variant	57646			AB040948	CCDS31680.1, CCDS73394.1	11q23	2008-04-11	2005-08-08		ENSG00000048028	ENSG00000048028		"""Ubiquitin-specific peptidases"""	12625	protein-coding gene	gene with protein product		610748	"""ubiquitin specific protease 28"""			12838346, 11597335	Standard	XM_005271630		Approved	KIAA1515	uc001poh.3	Q96RU2	OTTHUMG00000168205	ENST00000003302.4:c.867G>A	11.37:g.113701632C>T		Somatic		Capture	Illumina HiSeq	Phase_I	113206842	B0YJC0|B0YJC1|Q9P213	Silent	SNP	ENST00000003302.4	37	CCDS31680.1																																																																																				USP28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398789.1		
RNF26	79102	hgsc.bcm.edu	37	11	119205979	119205979	+	Silent	SNP	G	G	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr11:119205979G>A	ENST00000311413.4	+	1	743	c.147G>A	c.(145-147)acG>acA	p.T49T	RP11-334E6.10_ENST00000501918.2_RNA	NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	49						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		TGCCGCACACGGTACTGACTA	0.602																																																	0			11											185.0	155.0	165.0					11																	119205979		2199	4295	6494	118711189	SO:0001819	synonymous_variant	79102			AB055622	CCDS8419.1	11q23	2008-07-21				ENSG00000173456		"""RING-type (C3HC4) zinc fingers"""	14646	protein-coding gene	gene with protein product	"""ring finger protein with leucine zipper"""	606130				11352657	Standard	NM_032015		Approved	MGC2642	uc001pwh.3	Q9BY78		ENST00000311413.4:c.147G>A	11.37:g.119205979G>A		Somatic		Capture	Illumina HiSeq	Phase_I	118711189	Q542Y8	Silent	SNP	ENST00000311413.4	37	CCDS8419.1																																																																																				RNF26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388220.1	NM_032015	
CCDC15	80071	hgsc.bcm.edu	37	11	124847418	124847418	+	Silent	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr11:124847418A>G	ENST00000344762.5	+	6	934	c.675A>G	c.(673-675)ggA>ggG	p.G225G	CCDC15_ENST00000529051.1_Silent_p.G225G	NM_025004.2	NP_079280.2	Q0P6D6	CCD15_HUMAN	coiled-coil domain containing 15	225						centrosome (GO:0005813)				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		TAAATACAGGAATAAGAGGAG	0.368																																																	0			11											66.0	64.0	65.0					11																	124847418		1828	4077	5905	124352628	SO:0001819	synonymous_variant	80071			BC018540	CCDS44756.1	11q24.2	2008-02-05			ENSG00000149548	ENSG00000149548			25798	protein-coding gene	gene with protein product							Standard	NM_025004		Approved	FLJ13215	uc001qbm.4	Q0P6D6	OTTHUMG00000165940	ENST00000344762.5:c.675A>G	11.37:g.124847418A>G		Somatic		Capture	Illumina HiSeq	Phase_I	124352628	Q9H8U7	Silent	SNP	ENST00000344762.5	37	CCDS44756.1																																																																																				CCDC15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387131.1	NM_025004	
SERPINB6	5269	hgsc.bcm.edu	37	6	2948717	2948717	+	Missense_Mutation	SNP	C	C	T	rs550855004		TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr6:2948717C>T	ENST00000380520.1	-	6	2940	c.946G>A	c.(946-948)Gtg>Atg	p.V316M	SERPINB6_ENST00000380539.1_Missense_Mutation_p.V316M|SERPINB6_ENST00000380524.1_Missense_Mutation_p.V316M|SERPINB6_ENST00000380546.3_Missense_Mutation_p.V316M|SERPINB6_ENST00000335686.5_Missense_Mutation_p.V316M|SERPINB6_ENST00000380529.1_Missense_Mutation_p.V316M			P35237	SPB6_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 6	316					negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|stomach(1)|upper_aerodigestive_tract(2)	17	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Drotrecogin alfa(DB00055)	GACTTGTGCACGACCTTGGAC	0.582													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17561	0.0		0.0	False		,,,				2504	0.0																0			6											79.0	73.0	75.0					6																	2948717		2203	4300	6503	2893716	SO:0001583	missense	5269			Z22658	CCDS4479.1, CCDS75386.1, CCDS75387.1	6p25.2	2014-02-18	2005-08-18		ENSG00000124570	ENSG00000124570		"""Serine (or cysteine) peptidase inhibitors"""	8950	protein-coding gene	gene with protein product	"""cytoplasmic antiproteinase"""	173321	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 6"", ""deafness, autosomal recessive 91"""	PI6, DFNB91		8415716, 9858835, 20451170, 24172014	Standard	NM_004568		Approved	PTI, CAP	uc031smo.1	P35237	OTTHUMG00000016170	ENST00000380520.1:c.946G>A	6.37:g.2948717C>T	ENSP00000369891:p.Val316Met	Somatic		Capture	Illumina HiSeq	Phase_I	2893716	B2RBA8|Q59F97|Q5TD06|Q7Z2Y7|Q96J44|Q9UDI7	Missense_Mutation	SNP	ENST00000380520.1	37	CCDS4479.1	.	.	.	.	.	.	.	.	.	.	C	9.909	1.209122	0.22205	.	.	ENSG00000124570	ENST00000380524;ENST00000380520;ENST00000335686;ENST00000380529;ENST00000380539;ENST00000380546;ENST00000440670	D;D;D;D;D;D	0.85861	-2.04;-2.04;-2.04;-2.04;-2.04;-2.04	5.01	1.08	0.20341	Serpin domain (3);	0.672017	0.15620	N	0.252927	T	0.62392	0.2424	L	0.49778	1.585	0.09310	N	1	P	0.37864	0.61	B	0.35859	0.212	T	0.54470	-0.8289	10	0.44086	T	0.13	.	4.4014	0.11388	0.3432:0.4258:0.0:0.231	.	316	P35237	SPB6_HUMAN	M	316;316;316;316;316;316;132	ENSP00000369896:V316M;ENSP00000369891:V316M;ENSP00000338358:V316M;ENSP00000369901:V316M;ENSP00000369912:V316M;ENSP00000369919:V316M	ENSP00000338358:V316M	V	-	1	0	SERPINB6	2893716	0.000000	0.05858	0.027000	0.17364	0.018000	0.09664	-1.020000	0.03618	0.063000	0.16370	0.551000	0.68910	GTG		SERPINB6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043422.1		
RREB1	6239	hgsc.bcm.edu	37	6	7226816	7226816	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr6:7226816C>T	ENST00000349384.6	+	9	1138	c.824C>T	c.(823-825)cCt>cTt	p.P275L	RREB1_ENST00000379933.3_Missense_Mutation_p.P275L|RREB1_ENST00000334984.6_Missense_Mutation_p.P275L|RREB1_ENST00000379938.2_Missense_Mutation_p.P275L	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	275					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.P275H(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CAGAACAACCCTTCAATTCCT	0.502																																																	1	Substitution - Missense(1)	ovary(1)	6											212.0	186.0	195.0					6																	7226816		2203	4300	6503	7171815	SO:0001583	missense	6239			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.824C>T	6.37:g.7226816C>T	ENSP00000305560:p.Pro275Leu	Somatic		Capture	Illumina HiSeq	Phase_I	7171815	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Missense_Mutation	SNP	ENST00000349384.6	37	CCDS34336.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.891321	0.91889	.	.	ENSG00000124782	ENST00000379933;ENST00000379938;ENST00000349384;ENST00000334984;ENST00000483150	T;T;T;T;T	0.12569	2.85;2.77;2.85;2.67;2.85	4.99	4.99	0.66335	.	0.000000	0.64402	D	0.000016	T	0.16557	0.0398	L	0.39397	1.21	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.97110	0.996;0.99;1.0	T	0.05225	-1.0898	10	0.09843	T	0.71	-17.4617	18.2888	0.90122	0.0:1.0:0.0:0.0	.	275;275;275	Q92766-3;Q92766;Q92766-2	.;RREB1_HUMAN;.	L	275	ENSP00000369265:P275L;ENSP00000369270:P275L;ENSP00000305560:P275L;ENSP00000335574:P275L;ENSP00000419511:P275L	ENSP00000335574:P275L	P	+	2	0	RREB1	7171815	1.000000	0.71417	0.975000	0.42487	0.967000	0.64934	5.350000	0.66016	2.311000	0.77944	0.655000	0.94253	CCT		RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1		
MDC1	9656	hgsc.bcm.edu	37	6	30676047	30676047	+	Missense_Mutation	SNP	G	G	A	rs529970009		TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr6:30676047G>A	ENST00000376406.3	-	8	2956	c.2309C>T	c.(2308-2310)aCg>aTg	p.T770M	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Intron	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	770				Missing (in Ref. 2; CAH18685). {ECO:0000305}.	DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|intra-S DNA damage checkpoint (GO:0031573)	chromosome (GO:0005694)|focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	FHA domain binding (GO:0070975)|protein C-terminus binding (GO:0008022)			breast(2)|kidney(1)|ovary(1)	4						CTCAAGGTGCGTGTCAAAAGG	0.552								Other conserved DNA damage response genes					g|||	1	0.000199681	0.0	0.0	5008	,	,		18793	0.001		0.0	False		,,,				2504	0.0																0			6											103.0	99.0	100.0					6																	30676047		1509	2709	4218	30784026	SO:0001583	missense	9656			D79992	CCDS34384.1	6p21.3	2010-02-17	2009-06-12		ENSG00000137337	ENSG00000137337			21163	protein-coding gene	gene with protein product		607593				10975465, 12607005	Standard	NM_014641		Approved	NFBD1, KIAA0170, Em:AB023051.5	uc003nrg.4	Q14676	OTTHUMG00000031075	ENST00000376406.3:c.2309C>T	6.37:g.30676047G>A	ENSP00000365588:p.Thr770Met	Somatic		Capture	Illumina HiSeq	Phase_I	30784026	A2AB04|A2BF04|A2RRA8|A7YY86|B0S8A2|Q0EFC2|Q2L6H7|Q2TAZ4|Q5JP55|Q5JP56|Q5ST83|Q68CQ3|Q86Z06|Q96QC2	Missense_Mutation	SNP	ENST00000376406.3	37	CCDS34384.1	.	.	.	.	.	.	.	.	.	.	g	12.08	1.831805	0.32421	.	.	ENSG00000137337	ENST00000376406;ENST00000429610	T	0.02944	4.1	4.22	3.33	0.38152	.	.	.	.	.	T	0.02848	0.0085	L	0.47716	1.5	0.21933	N	0.999461	D	0.89917	1.0	P	0.54856	0.762	T	0.45071	-0.9286	9	0.54805	T	0.06	0.6594	9.3475	0.38118	0.1088:0.0:0.8912:0.0	.	770	Q14676	MDC1_HUMAN	M	770	ENSP00000365588:T770M	ENSP00000365588:T770M	T	-	2	0	MDC1	30784026	0.000000	0.05858	0.005000	0.12908	0.112000	0.19704	0.576000	0.23744	2.048000	0.60808	0.457000	0.33378	ACG		MDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000076103.1	NM_014641	
VWA7	80737	hgsc.bcm.edu	37	6	31734091	31734091	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr6:31734091G>T	ENST00000375688.4	-	15	2455	c.2255C>A	c.(2254-2256)tCg>tAg	p.S752*	SAPCD1-AS1_ENST00000419679.1_RNA|VWA7_ENST00000467576.1_5'UTR|VWA7_ENST00000375686.3_Nonsense_Mutation_p.S752*			Q9Y334	VWA7_HUMAN	von Willebrand factor A domain containing 7	752						extracellular region (GO:0005576)											CTGAGGGCCCGAGAAGCTGGC	0.612																																																	0			6											35.0	30.0	32.0					6																	31734091		1509	2709	4218	31842070	SO:0001587	stop_gained	80737				CCDS4721.2	6p21	2011-12-13	2011-12-13	2011-12-13	ENSG00000204396	ENSG00000204396			13939	protein-coding gene	gene with protein product		609693	"""chromosome 6 open reading frame 27"""	C6orf27			Standard	NM_025258		Approved	G7c, NG37	uc011dog.2	Q9Y334	OTTHUMG00000031132	ENST00000375688.4:c.2255C>A	6.37:g.31734091G>T	ENSP00000364840:p.Ser752*	Somatic		Capture	Illumina HiSeq	Phase_I	31842070	A2BEX8|A6NHR6|B0V041|Q5SSR5|Q96QC8|Q9UMP9	Nonsense_Mutation	SNP	ENST00000375688.4	37	CCDS4721.2	.	.	.	.	.	.	.	.	.	.	G	38	6.935249	0.97948	.	.	ENSG00000204396	ENST00000375688;ENST00000375686	.	.	.	4.87	0.628	0.17681	.	0.744443	0.12094	N	0.500126	.	.	.	.	.	.	0.22253	N	0.999257	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.951	5.2751	0.15645	0.1941:0.3044:0.5015:0.0	.	.	.	.	X	752	.	ENSP00000364838:S752X	S	-	2	0	C6orf27	31842070	0.212000	0.23540	0.067000	0.19924	0.796000	0.44982	0.262000	0.18460	-0.070000	0.12908	-1.253000	0.01494	TCG		VWA7-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076233.2	NM_025258	
KCNQ5	56479	hgsc.bcm.edu	37	6	73904984	73904984	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr6:73904984G>T	ENST00000370398.1	+	14	2755	c.2646G>T	c.(2644-2646)gaG>gaT	p.E882D	KCNQ5_ENST00000355635.3_Missense_Mutation_p.E883D|KCNQ5_ENST00000402622.2_Missense_Mutation_p.E892D|KCNQ5_ENST00000355194.4_Missense_Mutation_p.E882D|KCNQ5_ENST00000414165.2_Missense_Mutation_p.E772D|KCNQ5_ENST00000342056.2_Missense_Mutation_p.E901D|KCNQ5_ENST00000403813.2_Missense_Mutation_p.E873D	NM_019842.3	NP_062816.2	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	882					protein complex assembly (GO:0006461)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)	Ezogabine(DB04953)	AAGAGACAGAGACAGACACTT	0.498																																					GBM(142;1375 1859 14391 23261 44706)												0			6											92.0	97.0	95.0					6																	73904984		2203	4300	6503	73961705	SO:0001583	missense	56479			AF202977	CCDS4976.1, CCDS55034.1	6q14	2012-07-05			ENSG00000185760	ENSG00000185760		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6299	protein-coding gene	gene with protein product		607357				10787416, 10816588, 16382104	Standard	NM_019842		Approved	Kv7.5	uc011dyh.2	Q9NR82	OTTHUMG00000015020	ENST00000370398.1:c.2646G>T	6.37:g.73904984G>T	ENSP00000359425:p.Glu882Asp	Somatic		Capture	Illumina HiSeq	Phase_I	73961705	A6NKT6|A6PVT6|A8MSQ5|B4DS33|B5MC83|B7ZL37|F5GZV0|Q17RE1|Q5VVP3|Q86W40|Q9NRN0|Q9NYA6	Missense_Mutation	SNP	ENST00000370398.1	37	CCDS4976.1	.	.	.	.	.	.	.	.	.	.	G	11.20	1.569168	0.28003	.	.	ENSG00000185760	ENST00000342056;ENST00000451840;ENST00000355194;ENST00000370398;ENST00000402622;ENST00000355635;ENST00000403813;ENST00000414165	D;D;D;D;D;D;D	0.99394	-5.61;-5.61;-5.61;-5.61;-5.62;-5.64;-5.82	5.97	2.82	0.32997	.	0.197406	0.44688	D	0.000440	D	0.95277	0.8468	N	0.19112	0.55	0.18873	N	0.999985	D;P;B;B;B	0.57257	0.979;0.571;0.001;0.001;0.001	P;B;B;B;B	0.55999	0.789;0.153;0.002;0.003;0.001	D	0.92540	0.6041	10	0.09590	T	0.72	.	4.7959	0.13272	0.3792:0.1592:0.4616:0.0	.	772;892;901;873;882	F5GZV0;Q9NR82-3;A6PVT6;Q9NR82-2;Q9NR82	.;.;.;.;KCNQ5_HUMAN	D	901;901;882;882;892;883;873;772	ENSP00000345055:E901D;ENSP00000347326:E882D;ENSP00000359425:E882D;ENSP00000385501:E892D;ENSP00000347853:E883D;ENSP00000384453:E873D;ENSP00000409861:E772D	ENSP00000345055:E901D	E	+	3	2	KCNQ5	73961705	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	2.618000	0.46393	0.837000	0.34925	0.650000	0.86243	GAG		KCNQ5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000041198.3	NM_019842	
C6orf165	154313	hgsc.bcm.edu	37	6	88119576	88119576	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr6:88119576G>A	ENST00000507897.1	+	2	102	c.19G>A	c.(19-21)Gaa>Aaa	p.E7K	C6ORF165_ENST00000369562.4_Missense_Mutation_p.E7K			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	7										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AACTCAGGCCGAAAGTGTTAT	0.333																																																	0			6											116.0	119.0	118.0					6																	88119576		2203	4300	6503	88176295	SO:0001583	missense	154313			BC035083	CCDS34498.1	6q15	2012-02-07			ENSG00000213204	ENSG00000213204			21405	protein-coding gene	gene with protein product							Standard	NM_001031743		Approved	FLJ25974, dJ382I10.1	uc003plv.3	Q8IYR0	OTTHUMG00000015173	ENST00000507897.1:c.19G>A	6.37:g.88119576G>A	ENSP00000426769:p.Glu7Lys	Somatic		Capture	Illumina HiSeq	Phase_I	88176295	A8K969|E1P507|Q8N9U4	Missense_Mutation	SNP	ENST00000507897.1	37	CCDS34498.1	.	.	.	.	.	.	.	.	.	.	G	34	5.408718	0.96072	.	.	ENSG00000213204	ENST00000369562;ENST00000480123	T;T	0.40225	1.04;1.04	5.39	5.39	0.77823	.	0.096875	0.64402	D	0.000002	T	0.57989	0.2091	M	0.81239	2.535	0.58432	D	0.999997	D;D	0.71674	0.995;0.998	P;P	0.58660	0.743;0.843	T	0.63695	-0.6579	10	0.72032	D	0.01	.	19.1063	0.93296	0.0:0.0:1.0:0.0	.	7;7	Q8IYR0;E1P509	CF165_HUMAN;.	K	7	ENSP00000358575:E7K;ENSP00000422494:E7K	ENSP00000358575:E7K	E	+	1	0	C6orf165	88176295	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	4.814000	0.62627	2.671000	0.90904	0.655000	0.94253	GAA		C6orf165-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000470406.1	NM_178823	
UFL1	23376	hgsc.bcm.edu	37	6	96988489	96988489	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr6:96988489A>G	ENST00000369278.4	+	11	1303	c.1237A>G	c.(1237-1239)Agt>Ggt	p.S413G		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	413					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										CGTTAGTACAAGTAAAAAGGA	0.299																																																	0			6											65.0	66.0	66.0					6																	96988489		2203	4295	6498	97095210	SO:0001583	missense	23376			BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.1237A>G	6.37:g.96988489A>G	ENSP00000358283:p.Ser413Gly	Somatic		Capture	Illumina HiSeq	Phase_I	97095210	A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Missense_Mutation	SNP	ENST00000369278.4	37	CCDS5034.1	.	.	.	.	.	.	.	.	.	.	A	12.02	1.813080	0.32053	.	.	ENSG00000014123	ENST00000369278	T	0.43688	0.94	6.16	5.01	0.66863	.	0.449979	0.29924	N	0.010844	T	0.18257	0.0438	L	0.50333	1.59	0.32830	D	0.503862	B	0.02656	0.0	B	0.04013	0.001	T	0.09357	-1.0678	10	0.21540	T	0.41	-3.722	11.3719	0.49704	0.9303:0.0:0.0697:0.0	.	413	O94874	UFL1_HUMAN	G	413	ENSP00000358283:S413G	ENSP00000358283:S413G	S	+	1	0	KIAA0776	97095210	1.000000	0.71417	0.999000	0.59377	0.639000	0.38242	2.955000	0.49121	1.162000	0.42619	0.528000	0.53228	AGT		UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323	
DACT2	168002	hgsc.bcm.edu	37	6	168710882	168710882	+	Silent	SNP	C	C	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr6:168710882C>T	ENST00000366795.3	-	3	712	c.624G>A	c.(622-624)ccG>ccA	p.P208P	DACT2_ENST00000366796.3_Silent_p.P208P|DACT2_ENST00000610183.1_Silent_p.P38P|DACT2_ENST00000607983.1_Intron	NM_214462.3	NP_999627.2	Q5SW24	DACT2_HUMAN	dishevelled-binding antagonist of beta-catenin 2	208					epithelial cell morphogenesis (GO:0003382)|hematopoietic progenitor cell differentiation (GO:0002244)|inner medullary collecting duct development (GO:0072061)|negative regulation of cell adhesion (GO:0007162)|negative regulation of nodal signaling pathway (GO:1900108)|skin development (GO:0043588)	mitochondrion (GO:0005739)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)|transcription factor binding (GO:0008134)			endometrium(1)	1		Breast(66;1.46e-05)|Ovarian(120;0.0728)		OV - Ovarian serous cystadenocarcinoma(33;5.33e-21)|BRCA - Breast invasive adenocarcinoma(81;1.18e-06)|GBM - Glioblastoma multiforme(31;0.000957)		ATGTGCCCCACGGCTGGCCTG	0.662																																																	0			6											5.0	8.0	7.0					6																	168710882		668	1531	2199	168453731	SO:0001819	synonymous_variant	168002			AF318336	CCDS47519.1, CCDS69241.1, CCDS75554.1	6q27	2013-05-15	2013-05-15	2003-09-17	ENSG00000164488	ENSG00000164488			21231	protein-coding gene	gene with protein product		608966	"""chromosome 6 open reading frame 116"", ""dapper homolog 2, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 2 (Xenopus laevis)"""	C6orf116			Standard	NM_001286351		Approved	bA503C24.7, DAPPER2	uc003qwq.3	Q5SW24	OTTHUMG00000016046	ENST00000366795.3:c.624G>A	6.37:g.168710882C>T		Somatic		Capture	Illumina HiSeq	Phase_I	168453731	Q2NKJ2|Q569G0|Q8WYW2	Silent	SNP	ENST00000366795.3	37	CCDS47519.1																																																																																				DACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043193.1		
TP53	7157	hgsc.bcm.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr17:7577094G>A	ENST00000269305.4	-	8	1033	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000420246.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1. {ECO:0000250}.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|Ref.22}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; dbSNP:rs28934574). {ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|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 transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	TCTGTGCGCCGGTCTCTCCCA	0.557		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	463	Substitution - Missense(430)|Whole gene deletion(8)|Deletion - In frame(6)|Deletion - Frameshift(5)|Insertion - Frameshift(4)|Substitution - coding silent(3)|Unknown(2)|Complex - frameshift(2)|Complex - compound substitution(2)|Insertion - In frame(1)	large_intestine(136)|oesophagus(49)|upper_aerodigestive_tract(43)|stomach(33)|central_nervous_system(29)|breast(29)|lung(26)|ovary(21)|skin(20)|urinary_tract(16)|haematopoietic_and_lymphoid_tissue(16)|pancreas(10)|biliary_tract(5)|liver(5)|bone(5)|vulva(4)|prostate(4)|endometrium(3)|peritoneum(2)|thyroid(2)|NS(2)|autonomic_ganglia(1)|soft_tissue(1)|salivary_gland(1)	17	GRCh37	CM056413|CM920678	TP53	M	rs28934574	G	TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG,TRP/ARG	0,4406		0,0,2203	83.0	71.0	75.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	844,844,844,844,448,448,448	1.5	0.3	17	dbSNP_125	75	2,8598	2.2+/-6.3	1,0,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	101,101,101,101,101,101,101	1,0,6502	AA,AG,GG		0.0233,0.0,0.0154	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	282/394,282/394,282/347,282/342,150/262,150/210,150/215	7577094	2,13004	2203	4300	6503	7517819	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.844C>T	17.37:g.7577094G>A	ENSP00000269305:p.Arg282Trp	Somatic		Capture	Illumina HiSeq	Phase_I	7517819	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.057525	0.76074	0.0	2.33E-4	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.75	1.49	0.22878	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99825	0.9922	M	0.89968	3.075	0.58432	A	0.999999	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;0.998;1.0;0.999	D	0.97713	1.0192	9	0.87932	D	0	-12.0909	8.7508	0.34613	0.0:0.1376:0.5833:0.2792	rs28934574	282;282;282;282	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	W	282;282;282;282;282;271;150	ENSP00000352610:R282W;ENSP00000269305:R282W;ENSP00000398846:R282W;ENSP00000391127:R282W;ENSP00000391478:R282W;ENSP00000425104:R150W	ENSP00000269305:R282W	R	-	1	2	TP53	7517819	1.000000	0.71417	0.327000	0.25402	0.901000	0.52897	4.477000	0.60223	0.174000	0.19809	0.462000	0.41574	CGG		TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
UNC45B	146862	hgsc.bcm.edu	37	17	33477186	33477186	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr17:33477186C>T	ENST00000268876.5	+	4	422	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	UNC45B_ENST00000378449.1_Missense_Mutation_p.R109W|UNC45B_ENST00000433649.1_Missense_Mutation_p.R109W|UNC45B_ENST00000394570.2_Missense_Mutation_p.R109W|UNC45B_ENST00000591048.1_Missense_Mutation_p.R109W	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	109					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)				CCTCGAGCCACGGAACCAGAA	0.607																																																	0			17											100.0	84.0	90.0					17																	33477186		2203	4300	6503	30501299	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.325C>T	17.37:g.33477186C>T	ENSP00000268876:p.Arg109Trp	Somatic		Capture	Illumina HiSeq	Phase_I	30501299	Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	C	17.90	3.502579	0.64298	.	.	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	4.55	-1.54	0.08584	Armadillo-like helical (1);Armadillo-type fold (1);Tetratricopeptide repeat-containing (1);	0.485095	0.21974	N	0.066416	T	0.61286	0.2335	L	0.27053	0.805	0.09310	N	0.999998	D;P;P	0.89917	1.0;0.949;0.931	D;B;P	0.72338	0.977;0.426;0.905	T	0.56019	-0.8048	10	0.72032	D	0.01	-8.3887	8.9045	0.35515	0.5919:0.3296:0.0:0.0785	.	109;109;109	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	W	109	ENSP00000378071:R109W;ENSP00000268876:R109W;ENSP00000412840:R109W;ENSP00000367710:R109W	ENSP00000268876:R109W	R	+	1	2	UNC45B	30501299	0.955000	0.32602	0.869000	0.34112	0.990000	0.78478	1.689000	0.37700	-0.060000	0.13132	0.650000	0.86243	CGG		UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167	
MYO19	80179	hgsc.bcm.edu	37	17	34863737	34863737	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr17:34863737A>G	ENST00000431794.3	-	15	1780	c.1258T>C	c.(1258-1260)Tca>Cca	p.S420P	MYO19_ENST00000268852.9_Missense_Mutation_p.S420P	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	420	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TCAGGAAATGATTCAAATCCA	0.542																																																	0			17											77.0	78.0	77.0					17																	34863737		2141	4267	6408	31937850	SO:0001583	missense	80179			BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.1258T>C	17.37:g.34863737A>G	ENSP00000409936:p.Ser420Pro	Somatic		Capture	Illumina HiSeq	Phase_I	31937850	Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	A	19.20	3.780697	0.70222	.	.	ENSG00000141140	ENST00000415126;ENST00000431794;ENST00000268852	D;D	0.87412	-2.25;-2.25	5.79	5.79	0.91817	Myosin head, motor domain (3);	0.230079	0.22185	N	0.063459	D	0.93916	0.8053	M	0.90145	3.09	0.49389	D	0.999787	D;D	0.69078	0.997;0.967	D;P	0.69824	0.966;0.806	D	0.94414	0.7634	10	0.62326	D	0.03	.	11.6091	0.51049	0.8514:0.1486:0.0:0.0	.	420;420	Q96H55;Q96H55-4	MYO19_HUMAN;.	P	155;420;420	ENSP00000409936:S420P;ENSP00000268852:S420P	ENSP00000268852:S420P	S	-	1	0	MYO19	31937850	1.000000	0.71417	0.685000	0.30070	0.991000	0.79684	4.481000	0.60250	2.208000	0.71279	0.533000	0.62120	TCA		MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109	
HSF5	124535	hgsc.bcm.edu	37	17	56557479	56557479	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr17:56557479A>G	ENST00000323777.3	-	2	809	c.700T>C	c.(700-702)Tcc>Ccc	p.S234P		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	234					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATTCCAAGGGAGTTCTGCCAT	0.478																																																	0			17											145.0	135.0	138.0					17																	56557479		2203	4300	6503	53912478	SO:0001583	missense	124535			BC033020	CCDS32690.1	17q23.2	2006-04-25				ENSG00000176160			26862	protein-coding gene	gene with protein product							Standard	NM_001080439		Approved	FLJ40311	uc002iwi.1	Q4G112		ENST00000323777.3:c.700T>C	17.37:g.56557479A>G	ENSP00000313243:p.Ser234Pro	Somatic		Capture	Illumina HiSeq	Phase_I	53912478	Q08EH7|Q8N7V2	Missense_Mutation	SNP	ENST00000323777.3	37	CCDS32690.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.049079	0.75846	.	.	ENSG00000176160	ENST00000412540;ENST00000323777	T	0.73258	-0.73	5.5	5.5	0.81552	.	0.000000	0.56097	D	0.000038	T	0.73528	0.3598	N	0.24115	0.695	0.37669	D	0.923042	D	0.71674	0.998	D	0.75484	0.986	T	0.77308	-0.2636	10	0.44086	T	0.13	.	12.9827	0.58572	1.0:0.0:0.0:0.0	.	234	Q4G112	HSF5_HUMAN	P	134;234	ENSP00000313243:S234P	ENSP00000313243:S234P	S	-	1	0	HSF5	53912478	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.346000	0.59367	2.091000	0.63221	0.533000	0.62120	TCC		HSF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444719.1	XM_064190	
UNC13D	201294	hgsc.bcm.edu	37	17	73831795	73831795	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr17:73831795C>T	ENST00000207549.4	-	19	2039	c.1660G>A	c.(1660-1662)Gag>Aag	p.E554K	UNC13D_ENST00000412096.2_Missense_Mutation_p.E554K	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	554					defense response to virus (GO:0051607)|germinal center formation (GO:0002467)|granuloma formation (GO:0002432)|natural killer cell degranulation (GO:0043320)|phagocytosis (GO:0006909)|positive regulation of exocytosis (GO:0045921)|regulation of mast cell degranulation (GO:0043304)	endosome (GO:0005768)|exocytic vesicle (GO:0070382)|lysosome (GO:0005764)|membrane (GO:0016020)				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			AACAGACTCTCGCCCATCTCT	0.627									Familial Hemophagocytic Lymphohistiocytosis																																								0			17											54.0	51.0	52.0					17																	73831795		2203	4300	6503	71343390	SO:0001583	missense	201294	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	AK024474	CCDS11730.1	17q25.3	2014-09-17				ENSG00000092929			23147	protein-coding gene	gene with protein product		608897					Standard	NM_199242		Approved	Munc13-4	uc002jpp.3	Q70J99		ENST00000207549.4:c.1660G>A	17.37:g.73831795C>T	ENSP00000207549:p.Glu554Lys	Somatic		Capture	Illumina HiSeq	Phase_I	71343390	B4DWG9|Q9H7K5	Missense_Mutation	SNP	ENST00000207549.4	37	CCDS11730.1	.	.	.	.	.	.	.	.	.	.	C	16.88	3.245060	0.59103	.	.	ENSG00000092929	ENST00000207549;ENST00000412096;ENST00000448606	T;T	0.69561	-0.39;-0.41	4.72	4.72	0.59763	.	0.138185	0.49305	D	0.000147	T	0.61800	0.2376	M	0.61703	1.905	0.50467	D	0.999879	P;P	0.49696	0.927;0.607	B;B	0.40901	0.343;0.036	T	0.63580	-0.6605	10	0.08179	T	0.78	-19.5763	17.6528	0.88169	0.0:1.0:0.0:0.0	.	554;554	Q70J99-3;Q70J99	.;UN13D_HUMAN	K	554	ENSP00000207549:E554K;ENSP00000388093:E554K	ENSP00000207549:E554K	E	-	1	0	UNC13D	71343390	0.993000	0.37304	0.996000	0.52242	0.950000	0.60333	4.017000	0.57167	2.154000	0.67381	0.491000	0.48974	GAG		UNC13D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448847.2	XM_113950	
CCDC40	55036	hgsc.bcm.edu	37	17	78063611	78063611	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr17:78063611G>A	ENST00000397545.4	+	17	2787	c.2760G>A	c.(2758-2760)atG>atA	p.M920I	CCDC40_ENST00000374877.3_Missense_Mutation_p.M920I|CCDC40_ENST00000573903.1_3'UTR	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	920					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)		p.M920I(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CAAAAGAGATGCGTTCCTCAG	0.517																																																	1	Substitution - Missense(1)	ovary(1)	17											63.0	63.0	63.0					17																	78063611		1929	4131	6060	75678206	SO:0001583	missense	55036			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.2760G>A	17.37:g.78063611G>A	ENSP00000380679:p.Met920Ile	Somatic		Capture	Illumina HiSeq	Phase_I	75678206	A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702960	0.48412	.	.	ENSG00000141519	ENST00000374877;ENST00000397545	T;T	0.51574	0.7;0.72	4.63	4.63	0.57726	.	.	.	.	.	T	0.57961	0.2089	M	0.82323	2.585	0.39013	D	0.959599	P;P	0.48640	0.553;0.913	B;P	0.45099	0.218;0.469	T	0.67821	-0.5571	9	0.41790	T	0.15	-41.6276	17.808	0.88607	0.0:0.0:1.0:0.0	.	920;703	Q4G0X9;Q4G0X9-3	CCD40_HUMAN;.	I	920	ENSP00000364011:M920I;ENSP00000380679:M920I	ENSP00000364011:M920I	M	+	3	0	CCDC40	75678206	1.000000	0.71417	1.000000	0.80357	0.453000	0.32348	3.269000	0.51592	2.294000	0.77228	0.563000	0.77884	ATG		CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082	
ADAMTS1	9510	hgsc.bcm.edu	37	21	28214928	28214928	+	Silent	SNP	C	C	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr21:28214928C>T	ENST00000284984.3	-	2	1261	c.807G>A	c.(805-807)tcG>tcA	p.S269S		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1	269	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				heart trabecula formation (GO:0060347)|integrin-mediated signaling pathway (GO:0007229)|kidney development (GO:0001822)|negative regulation of cell proliferation (GO:0008285)|ovulation from ovarian follicle (GO:0001542)	basement membrane (GO:0005604)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		ATTCTGCCATCGACTGGTCTG	0.448																																																	0			21											75.0	69.0	71.0					21																	28214928		2203	4300	6503	27136799	SO:0001819	synonymous_variant	9510			AF060152	CCDS33524.1	21q21.3	2008-05-14	2005-08-19		ENSG00000154734	ENSG00000154734		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	217	protein-coding gene	gene with protein product		605174	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 1"""			10438512	Standard	NM_006988		Approved	C3-C5, METH1, KIAA1346	uc002ymf.3	Q9UHI8	OTTHUMG00000078688	ENST00000284984.3:c.807G>A	21.37:g.28214928C>T		Somatic		Capture	Illumina HiSeq	Phase_I	27136799	D3DSD5|Q9NSJ8|Q9P2K0|Q9UH83|Q9UP80	Silent	SNP	ENST00000284984.3	37	CCDS33524.1	.	.	.	.	.	.	.	.	.	.	C	9.483	1.098708	0.20552	.	.	ENSG00000154734	ENST00000451462	.	.	.	5.38	-10.8	0.00216	.	.	.	.	.	T	0.41903	0.1179	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49790	-0.8902	4	.	.	.	.	5.4493	0.16554	0.1931:0.355:0.3644:0.0875	.	.	.	.	Q	51	.	.	R	-	2	0	ADAMTS1	27136799	0.016000	0.18221	0.473000	0.27253	0.995000	0.86356	-0.917000	0.04025	-2.238000	0.00712	-0.345000	0.07892	CGA		ADAMTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000171650.2		
UMODL1	89766	hgsc.bcm.edu	37	21	43547822	43547822	+	Missense_Mutation	SNP	G	G	A	rs201879010		TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr21:43547822G>A	ENST00000408910.2	+	20	3571	c.3571G>A	c.(3571-3573)Ggc>Agc	p.G1191S	UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400427.1_Missense_Mutation_p.G1247S|UMODL1_ENST00000408989.2_Missense_Mutation_p.G1319S|UMODL1_ENST00000400424.2_Missense_Mutation_p.G1119S	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	1191	ZP. {ECO:0000255|PROSITE- ProRule:PRU00375}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GATTGAGAACGGCAACTCCAA	0.527													G|||	1	0.000199681	0.0	0.0	5008	,	,		19907	0.001		0.0	False		,,,				2504	0.0				Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)												0			21											103.0	101.0	101.0					21																	43547822		2025	4199	6224	42420891	SO:0001583	missense	89766				CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.3571G>A	21.37:g.43547822G>A	ENSP00000386147:p.Gly1191Ser	Somatic		Capture	Illumina HiSeq	Phase_I	42420891	C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	CCDS42936.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	G	15.59	2.877423	0.51801	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910;ENST00000434156	D;D;D;D	0.81739	-1.53;-1.53;-1.53;-1.53	3.67	3.67	0.42095	Zona pellucida sperm-binding protein (3);	0.000000	0.44902	D	0.000404	D	0.88757	0.6523	M	0.79475	2.455	0.49130	D	0.999755	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89256	0.3594	9	.	.	.	-34.8229	14.8451	0.70254	0.0:0.0:1.0:0.0	.	1319;1191	Q5DID0-2;Q5DID0	.;UROL1_HUMAN	S	1247;1119;1319;1191;76	ENSP00000383279:G1247S;ENSP00000383276:G1119S;ENSP00000386126:G1319S;ENSP00000386147:G1191S	.	G	+	1	0	UMODL1	42420891	1.000000	0.71417	0.961000	0.40146	0.124000	0.20399	5.473000	0.66774	2.350000	0.79820	0.561000	0.74099	GGC		UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2		
PCNT	5116	hgsc.bcm.edu	37	21	47817955	47817955	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr21:47817955C>T	ENST00000359568.5	+	23	4581	c.4474C>T	c.(4474-4476)Cgc>Tgc	p.R1492C	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1492					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGAGCACGAGCGCGAGGAGTT	0.706																																																	0			21											18.0	18.0	18.0					21																	47817955		2188	4293	6481	46642383	SO:0001583	missense	5116			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.4474C>T	21.37:g.47817955C>T	ENSP00000352572:p.Arg1492Cys	Somatic		Capture	Illumina HiSeq	Phase_I	46642383	O43152|Q7Z7C9	Missense_Mutation	SNP	ENST00000359568.5	37	CCDS33592.1	.	.	.	.	.	.	.	.	.	.	C	16.35	3.098812	0.56183	.	.	ENSG00000160299	ENST00000359568	T	0.74315	-0.83	4.96	4.96	0.65561	.	0.000000	0.33005	N	0.005383	D	0.85544	0.5721	M	0.83953	2.67	0.46185	D	0.998918	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.86913	0.2062	10	0.87932	D	0	.	10.7392	0.46143	0.1895:0.8104:0.0:0.0	.	1374;1492	O95613-2;O95613	.;PCNT_HUMAN	C	1492	ENSP00000352572:R1492C	ENSP00000352572:R1492C	R	+	1	0	PCNT	46642383	1.000000	0.71417	0.914000	0.36105	0.205000	0.24178	1.539000	0.36104	2.564000	0.86499	0.561000	0.74099	CGC		PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207336.1	NM_006031	
ROGDI	79641	hgsc.bcm.edu	37	16	4850570	4850570	+	Silent	SNP	G	G	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr16:4850570G>A	ENST00000322048.7	-	5	643	c.265C>T	c.(265-267)Ctg>Ttg	p.L89L	ROGDI_ENST00000586336.1_5'UTR	NM_024589.2	NP_078865.1	Q9GZN7	ROGDI_HUMAN	rogdi homolog (Drosophila)	89					hemopoiesis (GO:0030097)|positive regulation of cell proliferation (GO:0008284)	intracellular (GO:0005622)|nucleus (GO:0005634)				endometrium(2)|lung(1)|ovary(1)|skin(1)	5						GGCATCTTCAGGTTCACATCC	0.632																																																	0			16											36.0	31.0	32.0					16																	4850570		2194	4285	6479	4790571	SO:0001819	synonymous_variant	79641			AK026039	CCDS10523.1	16p13.3	2014-09-17			ENSG00000067836	ENSG00000067836			29478	protein-coding gene	gene with protein product		614574				11230166	Standard	NM_024589		Approved	FLJ22386	uc002cxv.4	Q9GZN7	OTTHUMG00000129479	ENST00000322048.7:c.265C>T	16.37:g.4850570G>A		Somatic		Capture	Illumina HiSeq	Phase_I	4790571	Q6IA00	Silent	SNP	ENST00000322048.7	37	CCDS10523.1																																																																																				ROGDI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251643.3	NM_024589	
SMG1	23049	hgsc.bcm.edu	37	16	18861443	18861443	+	Silent	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr16:18861443A>G	ENST00000446231.2	-	35	5701	c.5289T>C	c.(5287-5289)ccT>ccC	p.P1763P	SMG1_ENST00000389467.3_Silent_p.P1763P			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1763	FAT. {ECO:0000255|PROSITE- ProRule:PRU00534}.|Interaction with SMG8 and SMG9.				DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CCTCATCTAAAGGAATCTAAG	0.383																																																	0			16											61.0	58.0	59.0					16																	18861443		1939	4148	6087	18768944	SO:0001819	synonymous_variant	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.5289T>C	16.37:g.18861443A>G		Somatic		Capture	Illumina HiSeq	Phase_I	18768944	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	CCDS45430.1																																																																																				SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092	
SMAD4	4089	hgsc.bcm.edu	37	18	48593532	48593532	+	Missense_Mutation	SNP	A	A	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr18:48593532A>T	ENST00000342988.3	+	10	1821	c.1283A>T	c.(1282-1284)aAg>aTg	p.K428M	SMAD4_ENST00000398417.2_Missense_Mutation_p.K428M|SMAD4_ENST00000588745.1_Missense_Mutation_p.K332M	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	428	MH2. {ECO:0000255|PROSITE- ProRule:PRU00439}.				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.?(2)|p.K428R(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)		GCTGTTCATAAGATCTACCCA	0.398																																																	39	Whole gene deletion(36)|Unknown(2)|Substitution - Missense(1)	pancreas(26)|large_intestine(3)|breast(3)|stomach(2)|lung(2)|upper_aerodigestive_tract(1)|biliary_tract(1)|oesophagus(1)	18											114.0	98.0	104.0					18																	48593532		2203	4300	6503	46847530	SO:0001583	missense	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.1283A>T	18.37:g.48593532A>T	ENSP00000341551:p.Lys428Met	Somatic		Capture	Illumina HiSeq	Phase_I	46847530	A8K405	Missense_Mutation	SNP	ENST00000342988.3	37	CCDS11950.1	.	.	.	.	.	.	.	.	.	.	A	25.5	4.645628	0.87958	.	.	ENSG00000141646	ENST00000342988;ENST00000544926;ENST00000398417	D;D	0.99376	-5.79;-5.79	5.17	5.17	0.71159	SMAD domain-like (1);SMAD/FHA domain (1);SMAD domain, Dwarfin-type (3);	0.094910	0.64402	D	0.000001	D	0.99542	0.9836	H	0.95402	3.665	0.80722	D	1	D	0.65815	0.995	D	0.66196	0.942	D	0.98023	1.0372	10	0.87932	D	0	.	14.3127	0.66426	1.0:0.0:0.0:0.0	.	428	Q13485	SMAD4_HUMAN	M	428	ENSP00000341551:K428M;ENSP00000381452:K428M	ENSP00000341551:K428M	K	+	2	0	SMAD4	46847530	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.171000	0.94802	2.083000	0.62718	0.455000	0.32223	AAG		SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255993.3	NM_005359	
VHL	7428	hgsc.bcm.edu	37	3	10188315	10188315	+	Missense_Mutation	SNP	T	T	C	rs193922611		TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr3:10188315T>C	ENST00000256474.2	+	2	1298	c.458T>C	c.(457-459)cTg>cCg	p.L153P	VHL_ENST00000345392.2_Intron|VHL_ENST00000477538.1_3'UTR	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	153	Involved in binding to CCT complex.				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.L153P(5)|p.?(2)|p.L153fs*4(1)|p.?fs(1)|p.P154fs*2(1)|p.G144fs*19(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		AATATCACACTGCCAGGTACT	0.403		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	11	Substitution - Missense(5)|Deletion - Frameshift(2)|Insertion - Frameshift(2)|Unknown(2)	kidney(11)	3											182.0	172.0	175.0					3																	10188315		2203	4300	6503	10163315	SO:0001583	missense	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.458T>C	3.37:g.10188315T>C	ENSP00000256474:p.Leu153Pro	Somatic		Capture	Illumina HiSeq	Phase_I	10163315	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	20.0	3.930995	0.73327	.	.	ENSG00000134086	ENST00000256474;ENST00000450183	D	0.99848	-7.14	4.79	4.79	0.61399	von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);von Hippel-Lindau disease tumor suppressor, alpha domain (1);	0.000000	0.64402	D	0.000001	D	0.99715	0.9890	M	0.70275	2.135	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.97136	0.9821	10	0.72032	D	0.01	0.5194	12.5822	0.56397	0.0:0.0:0.0:1.0	.	153	P40337	VHL_HUMAN	P	153;71	ENSP00000256474:L153P	ENSP00000256474:L153P	L	+	2	0	VHL	10163315	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	5.968000	0.70413	1.928000	0.55862	0.460000	0.39030	CTG		VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	
KCNH8	131096	hgsc.bcm.edu	37	3	19436627	19436627	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr3:19436627G>A	ENST00000328405.2	+	7	1267	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	KCNH8_ENST00000475063.1_3'UTR|KCNH8_ENST00000537696.1_5'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	334					potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AAGACAGTGCGCCTCTTGCGT	0.473																																					NSCLC(124;1625 1765 8018 24930 42026)												0			3											179.0	152.0	161.0					3																	19436627		2203	4300	6503	19411631	SO:0001583	missense	131096			AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.1001G>A	3.37:g.19436627G>A	ENSP00000328813:p.Arg334His	Somatic		Capture	Illumina HiSeq	Phase_I	19411631	B7Z2I7|Q59GQ6	Missense_Mutation	SNP	ENST00000328405.2	37	CCDS2632.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.397805	0.83120	.	.	ENSG00000183960	ENST00000328405	D	0.99353	-5.77	5.78	5.78	0.91487	Ion transport (1);	0.000000	0.27725	U	0.018106	D	0.99569	0.9845	M	0.91717	3.235	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.994;0.999	D	0.98501	1.0614	9	.	.	.	.	20.0118	0.97458	0.0:0.0:1.0:0.0	.	334;334	B7Z398;Q96L42	.;KCNH8_HUMAN	H	334	ENSP00000328813:R334H	.	R	+	2	0	KCNH8	19411631	1.000000	0.71417	0.545000	0.28153	0.170000	0.22686	9.869000	0.99810	2.742000	0.94016	0.650000	0.86243	CGC		KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633	
ITGA9	3680	hgsc.bcm.edu	37	3	37514868	37514868	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr3:37514868G>A	ENST00000264741.5	+	3	593	c.337G>A	c.(337-339)Gga>Aga	p.G113R	ITGA9_ENST00000422441.1_Missense_Mutation_p.G113R	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	113					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)|neutrophil chemotaxis (GO:0030593)|wound healing (GO:0042060)	basal plasma membrane (GO:0009925)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CACGTCCTGCGGAAAGACCTG	0.602																																																	0			3											58.0	58.0	58.0					3																	37514868		2203	4300	6503	37489872	SO:0001583	missense	3680			L24158	CCDS2669.1	3p21.3	2010-03-23			ENSG00000144668	ENSG00000144668		"""Integrins"""	6145	protein-coding gene	gene with protein product	"""integrin, alpha 4-like"""	603963				8245132, 8290272	Standard	NM_002207		Approved	RLC, ITGA4L, ALPHA-RLC	uc003chd.3	Q13797	OTTHUMG00000130815	ENST00000264741.5:c.337G>A	3.37:g.37514868G>A	ENSP00000264741:p.Gly113Arg	Somatic		Capture	Illumina HiSeq	Phase_I	37489872	Q14638	Missense_Mutation	SNP	ENST00000264741.5	37	CCDS2669.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.024881	0.93518	.	.	ENSG00000144668	ENST00000422441;ENST00000264741	T;T	0.59638	0.25;0.25	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.78528	0.4297	M	0.80422	2.495	0.80722	D	1	P;D	0.89917	0.953;1.0	P;D	0.83275	0.556;0.996	T	0.80668	-0.1280	10	0.72032	D	0.01	.	18.4791	0.90804	0.0:0.0:1.0:0.0	.	113;113	Q13797;E9PDS3	ITA9_HUMAN;.	R	113	ENSP00000397258:G113R;ENSP00000264741:G113R	ENSP00000264741:G113R	G	+	1	0	ITGA9	37489872	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	8.636000	0.91010	2.642000	0.89623	0.650000	0.86243	GGA		ITGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253361.1	NM_002207	
SLC22A14	9389	hgsc.bcm.edu	37	3	38354566	38354566	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr3:38354566G>A	ENST00000273173.4	+	5	1112	c.1021G>A	c.(1021-1023)Gca>Aca	p.A341T	SLC22A14_ENST00000448498.1_Missense_Mutation_p.A341T	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	341					organic cation transport (GO:0015695)	integral component of plasma membrane (GO:0005887)	organic cation transmembrane transporter activity (GO:0015101)			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GTGCTACGCCGCAAGTGTGAA	0.602																																																	0			3											67.0	63.0	64.0					3																	38354566		2203	4300	6503	38329570	SO:0001583	missense	9389			AB011082	CCDS2677.1	3p21.3	2013-05-22	2008-01-11	2003-10-15	ENSG00000144671	ENSG00000144671		"""Solute carriers"""	8495	protein-coding gene	gene with protein product		604048	"""organic cationic transporter-like 4"", ""solute carrier family 22 (organic cation transporter), member 14"""	ORCTL4		10072596	Standard	NM_004803		Approved	OCTL2	uc003cib.2	Q9Y267	OTTHUMG00000131082	ENST00000273173.4:c.1021G>A	3.37:g.38354566G>A	ENSP00000273173:p.Ala341Thr	Somatic		Capture	Illumina HiSeq	Phase_I	38329570	A0AVS9|A1L4H6|B2RCX3|Q6DJT3	Missense_Mutation	SNP	ENST00000273173.4	37	CCDS2677.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.391129	0.82902	.	.	ENSG00000144671	ENST00000448498;ENST00000423219;ENST00000273173	T;T	0.59364	0.27;0.27	4.14	4.14	0.48551	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.113352	0.64402	D	0.000016	T	0.78691	0.4323	M	0.89353	3.025	0.49798	D	0.999821	D	0.89917	1.0	D	0.87578	0.998	D	0.83462	0.0054	10	0.87932	D	0	.	13.9454	0.64082	0.0:0.0:1.0:0.0	.	341	Q9Y267	S22AE_HUMAN	T	341	ENSP00000396283:A341T;ENSP00000273173:A341T	ENSP00000273173:A341T	A	+	1	0	SLC22A14	38329570	1.000000	0.71417	0.040000	0.18447	0.001000	0.01503	5.784000	0.68990	2.211000	0.71520	0.591000	0.81541	GCA		SLC22A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253742.3	NM_004803	
SEC22C	9117	hgsc.bcm.edu	37	3	42605030	42605030	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr3:42605030C>T	ENST00000264454.3	-	3	474	c.331G>A	c.(331-333)Gct>Act	p.A111T	SEC22C_ENST00000423701.2_Missense_Mutation_p.A111T|SEC22C_ENST00000493107.1_5'UTR|SEC22C_ENST00000536332.1_Missense_Mutation_p.A41T|SEC22C_ENST00000417572.1_Missense_Mutation_p.A111T|SEC22C_ENST00000273156.7_Missense_Mutation_p.A111T			Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C (S. cerevisiae)	111	Longin. {ECO:0000255|PROSITE- ProRule:PRU00231}.				ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		TCAAGAAAAGCGTATGGCCTG	0.453																																																	0			3											82.0	83.0	83.0					3																	42605030		2203	4300	6503	42580034	SO:0001583	missense	9117			AF039568	CCDS2699.1, CCDS2700.1, CCDS56246.1	3p24.3-p22.1	2006-04-25	2006-04-25	2006-04-25	ENSG00000093183	ENSG00000093183			16828	protein-coding gene	gene with protein product		604028	"""SEC22 vesicle trafficking protein-like 3 (S. cerevisiae)"""	SEC22L3		9501016, 11001058	Standard	NM_004206		Approved	MGC13261, MGC5373	uc003clj.3	Q9BRL7	OTTHUMG00000131797	ENST00000264454.3:c.331G>A	3.37:g.42605030C>T	ENSP00000264454:p.Ala111Thr	Somatic		Capture	Illumina HiSeq	Phase_I	42580034	O95152|Q68CX3|Q6UW18	Missense_Mutation	SNP	ENST00000264454.3	37	CCDS2700.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	24.6|24.6	4.550359|4.550359	0.86127|0.86127	.|.	.|.	ENSG00000093183|ENSG00000093183	ENST00000423701;ENST00000273156;ENST00000417572;ENST00000536332;ENST00000264454;ENST00000456515;ENST00000450981|ENST00000451653	T;T;T;T;T;T;T|.	0.26373|.	1.74;1.74;1.74;1.74;1.74;1.74;1.74|.	5.58|5.58	4.71|4.71	0.59529|0.59529	Longin (2);Longin-like (1);|.	0.164768|.	0.53938|.	D|.	0.000049|.	T|T	0.66867|0.66867	0.2833|0.2833	M|M	0.76574|0.76574	2.34|2.34	0.41643|0.41643	D|D	0.989085|0.989085	D;D;D;D|.	0.69078|.	0.997;0.996;0.996;0.997|.	P;P;P;P|.	0.55011|.	0.766;0.606;0.726;0.681|.	T|T	0.67654|0.67654	-0.5615|-0.5615	10|5	0.62326|.	D|.	0.03|.	-14.4634|-14.4634	9.356|9.356	0.38166|0.38166	0.1431:0.7842:0.0:0.0727|0.1431:0.7842:0.0:0.0727	.|.	41;111;111;111|.	F5H0H7;Q9BRL7-3;Q9BRL7;Q9BRL7-2|.	.;.;SC22C_HUMAN;.|.	T|H	111;111;111;41;111;111;111|32	ENSP00000414576:A111T;ENSP00000273156:A111T;ENSP00000407564:A111T;ENSP00000439845:A41T;ENSP00000264454:A111T;ENSP00000391170:A111T;ENSP00000397170:A111T|.	ENSP00000264454:A111T|.	A|R	-|-	1|2	0|0	SEC22C|SEC22C	42580034|42580034	0.977000|0.977000	0.34250|0.34250	0.667000|0.667000	0.29798|0.29798	0.993000|0.993000	0.82548|0.82548	2.136000|2.136000	0.42121|0.42121	1.357000|1.357000	0.45904|0.45904	0.585000|0.585000	0.79938|0.79938	GCT|CGC		SEC22C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254734.1	NM_004206	
ZMYND10	51364	hgsc.bcm.edu	37	3	50380426	50380426	+	Missense_Mutation	SNP	C	C	G	rs368114874		TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr3:50380426C>G	ENST00000231749.3	-	7	1895	c.623G>C	c.(622-624)cGt>cCt	p.R208P	RASSF1_ENST00000359365.4_5'Flank|RASSF1_ENST00000488024.1_5'Flank|ZMYND10_ENST00000490675.1_5'Flank|RASSF1_ENST00000357043.2_5'Flank|ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000360165.3_Intron	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	208					inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCTAAGCATACGGCTCAAGGT	0.632										TSP Lung(30;0.18)																																							0			3											146.0	133.0	137.0					3																	50380426		2203	4300	6503	50355430	SO:0001583	missense	51364			U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"""Zinc fingers, MYND-type"""	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.623G>C	3.37:g.50380426C>G	ENSP00000231749:p.Arg208Pro	Somatic		Capture	Illumina HiSeq	Phase_I	50355430	A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Missense_Mutation	SNP	ENST00000231749.3	37	CCDS2825.1	.	.	.	.	.	.	.	.	.	.	C	26.4	4.732575	0.89482	.	.	ENSG00000004838	ENST00000231749;ENST00000442887	T;T	0.32023	1.47;1.47	5.55	5.55	0.83447	.	0.047666	0.85682	D	0.000000	T	0.62588	0.2440	M	0.90309	3.105	0.80722	D	1	D	0.58268	0.982	P	0.61874	0.895	T	0.70630	-0.4819	10	0.87932	D	0	-17.2735	18.4981	0.90872	0.0:1.0:0.0:0.0	.	208	O75800	ZMY10_HUMAN	P	208;165	ENSP00000231749:R208P;ENSP00000393687:R165P	ENSP00000231749:R208P	R	-	2	0	ZMYND10	50355430	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	4.289000	0.59013	2.627000	0.88993	0.561000	0.74099	CGT		ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346376.1	NM_015896	
CNTN3	5067	hgsc.bcm.edu	37	3	74419065	74419065	+	Missense_Mutation	SNP	T	T	C	rs62620465	byFrequency	TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr3:74419065T>C	ENST00000263665.6	-	6	763	c.736A>G	c.(736-738)Aaa>Gaa	p.K246E		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	246	Ig-like C2-type 3.				cell adhesion (GO:0007155)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.K246E(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CATTCCAATTTCACAGTCGAA	0.343													T|||	336	0.0670927	0.2428	0.0173	5008	,	,		14582	0.0		0.003	False		,,,				2504	0.0																1	Substitution - Missense(1)	breast(1)	3						T	GLU/LYS	871,3535	335.5+/-303.9	94,683,1426	93.0	95.0	94.0		736	2.7	0.9	3	dbSNP_129	94	20,8578	14.6+/-50.1	0,20,4279	yes	missense	CNTN3	NM_020872.1	56	94,703,5705	CC,CT,TT		0.2326,19.7685,6.8517	benign	246/1029	74419065	891,12113	2203	4299	6502	74501755	SO:0001583	missense	5067			AB040929	CCDS33790.1	3p12.3	2013-02-11			ENSG00000113805	ENSG00000113805		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2173	protein-coding gene	gene with protein product		601325		PANG		8661054, 8586965	Standard	XM_005264757		Approved	BIG-1	uc003dpm.1	Q9P232	OTTHUMG00000158813	ENST00000263665.6:c.736A>G	3.37:g.74419065T>C	ENSP00000263665:p.Lys246Glu	Somatic		Capture	Illumina HiSeq	Phase_I	74501755	B9EK50|Q9H039	Missense_Mutation	SNP	ENST00000263665.6	37	CCDS33790.1	122	0.055860805860805864	116	0.23577235772357724	5	0.013812154696132596	0	0.0	1	0.0013192612137203166	T	17.63	3.438101	0.62955	0.197685	0.002326	ENSG00000113805	ENST00000263665	T	0.65364	-0.15	5.32	2.67	0.31697	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.215941	0.47455	D	0.000232	T	0.00012	0.0000	N	0.10874	0.06	0.31940	P	0.611094	B	0.18610	0.029	B	0.22601	0.04	T	0.08785	-1.0705	9	0.15952	T	0.53	.	11.8081	0.52167	0.0:0.0:0.2777:0.7223	rs62620465	246	Q9P232	CNTN3_HUMAN	E	246	ENSP00000263665:K246E	ENSP00000263665:K246E	K	-	1	0	CNTN3	74501755	1.000000	0.71417	0.878000	0.34440	0.993000	0.82548	5.926000	0.70070	0.917000	0.36895	0.482000	0.46254	AAA		CNTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352306.1	NM_020872	
CGGBP1	8545	hgsc.bcm.edu	37	3	88104676	88104676	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr3:88104676G>A	ENST00000398392.2	-	1	1783	c.451C>T	c.(451-453)Ctt>Ttt	p.L151F	CGGBP1_ENST00000482016.1_Missense_Mutation_p.L151F|CGGBP1_ENST00000474441.1_5'Flank|CGGBP1_ENST00000309534.6_Missense_Mutation_p.L151F|CGGBP1_ENST00000462901.1_Missense_Mutation_p.L151F			Q9UFW8	CGBP1_HUMAN	CGG triplet repeat binding protein 1	151					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			kidney(1)|large_intestine(2)|lung(2)	5		Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00359)|Lung(72;0.00677)		CCATCAGGAAGATATGCCCTC	0.448																																																	0			3											134.0	126.0	128.0					3																	88104676		1948	4161	6109	88187366	SO:0001583	missense	8545			AJ000258	CCDS43111.1	3p12-p11.1	2008-07-18			ENSG00000163320	ENSG00000163320			1888	protein-coding gene	gene with protein product	"""p20-CGG binding protein"""	603363				9201980, 14667814	Standard	NM_001195308		Approved	p20-CGGBP, CGGBP	uc003dqt.3	Q9UFW8	OTTHUMG00000159009	ENST00000398392.2:c.451C>T	3.37:g.88104676G>A	ENSP00000381429:p.Leu151Phe	Somatic		Capture	Illumina HiSeq	Phase_I	88187366	D3DU38|O15183	Missense_Mutation	SNP	ENST00000398392.2	37	CCDS43111.1	.	.	.	.	.	.	.	.	.	.	G	18.19	3.568355	0.65651	.	.	ENSG00000163320	ENST00000309534;ENST00000398392;ENST00000482016;ENST00000462901	.	.	.	5.7	5.7	0.88788	.	0.000000	0.31859	U	0.006951	T	0.65481	0.2695	L	0.29908	0.895	0.44221	D	0.997051	D	0.62365	0.991	D	0.65323	0.934	T	0.67440	-0.5670	9	0.66056	D	0.02	-10.8687	17.0533	0.86525	0.0:0.0:1.0:0.0	.	151	Q9UFW8	CGBP1_HUMAN	F	151	.	ENSP00000381428:L151F	L	-	1	0	CGGBP1	88187366	1.000000	0.71417	1.000000	0.80357	0.877000	0.50540	3.598000	0.54038	2.711000	0.92665	0.650000	0.86243	CTT		CGGBP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352955.1	NM_001008390	
SPICE1	152185	hgsc.bcm.edu	37	3	113187692	113187692	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr3:113187692T>C	ENST00000295872.4	-	9	1065	c.806A>G	c.(805-807)gAa>gGa	p.E269G		NM_144718.3	NP_653319.1	Q8N0Z3	SPICE_HUMAN	spindle and centriole associated protein 1	269					metaphase plate congression (GO:0051310)|regulation of centriole replication (GO:0046599)|spindle assembly involved in mitosis (GO:0090307)	centriole (GO:0005814)|centrosome (GO:0005813)|spindle (GO:0005819)				NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(3)|large_intestine(9)|lung(10)|ovary(2)|skin(2)|urinary_tract(1)	33						AGTAGATTCTTCAGGCTGAAG	0.418																																																	0			3											97.0	87.0	90.0					3																	113187692		2203	4300	6503	114670382	SO:0001583	missense	0			AY099107	CCDS2973.1	3q13.2	2010-09-01	2010-09-01	2010-09-01	ENSG00000163611	ENSG00000163611			25083	protein-coding gene	gene with protein product	"""spindle and centriole protein"""	613447	"""coiled-coil domain containing 52"""	CCDC52		20736305	Standard	NM_144718		Approved	SPICE	uc003eag.4	Q8N0Z3	OTTHUMG00000159261	ENST00000295872.4:c.806A>G	3.37:g.113187692T>C	ENSP00000295872:p.Glu269Gly	Somatic		Capture	Illumina HiSeq	Phase_I	114670382	D3DN72|Q8WUX6	Missense_Mutation	SNP	ENST00000295872.4	37	CCDS2973.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.189|9.189	1.025554|1.025554	0.19512|0.19512	.|.	.|.	ENSG00000163611|ENSG00000163611	ENST00000295872|ENST00000467618	T|.	0.36520|.	1.25|.	5.05|5.05	2.6|2.6	0.31112|0.31112	.|.	0.683462|.	0.15173|.	N|.	0.276533|.	T|T	0.59211|0.59211	0.2177|0.2177	M|M	0.64997|0.64997	1.995|1.995	0.35543|0.35543	D|D	0.803208|0.803208	B;B|.	0.10296|.	0.003;0.001|.	B;B|.	0.11329|.	0.006;0.006|.	T|T	0.61888|0.61888	-0.6970|-0.6970	10|5	0.87932|.	D|.	0|.	-8.2372|-8.2372	6.6621|6.6621	0.23020|0.23020	0.0:0.0789:0.1541:0.767|0.0:0.0789:0.1541:0.767	.|.	165;269|.	B3KX77;Q8N0Z3|.	.;SPICE_HUMAN|.	G|E	269|81	ENSP00000295872:E269G|.	ENSP00000295872:E269G|.	E|K	-|-	2|1	0|0	SPICE1|SPICE1	114670382|114670382	1.000000|1.000000	0.71417|0.71417	0.200000|0.200000	0.23457|0.23457	0.034000|0.034000	0.12701|0.12701	1.748000|1.748000	0.38308|0.38308	0.329000|0.329000	0.23460|0.23460	-0.326000|-0.326000	0.08463|0.08463	GAA|AAG		SPICE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354177.2	NM_144718	
ZNF80	7634	hgsc.bcm.edu	37	3	113955429	113955429	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr3:113955429C>A	ENST00000482457.2	-	1	996	c.493G>T	c.(493-495)Gaa>Taa	p.E165*	RP11-553L6.2_ENST00000493033.1_RNA|RP11-553L6.2_ENST00000481773.1_RNA	NM_007136.3	NP_009067.2	P51504	ZNF80_HUMAN	zinc finger protein 80	165					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|urinary_tract(2)	32		Lung NSC(201;0.0233)|all_neural(597;0.0837)				TTTCCACATTCTTTGCACCCA	0.488																																					GBM(23;986 1114 21716)												0			3											105.0	109.0	107.0					3																	113955429		2203	4300	6503	115438119	SO:0001587	stop_gained	7634			X65233	CCDS2979.1	3q13.31	2013-01-08	2006-05-12		ENSG00000174255	ENSG00000174255		"""Zinc fingers, C2H2-type"""	13155	protein-coding gene	gene with protein product		194553	"""zinc finger protein 80 (pT17)"""			8478004	Standard	NM_007136		Approved	pT17	uc010hqo.3	P51504	OTTHUMG00000159332	ENST00000482457.2:c.493G>T	3.37:g.113955429C>A	ENSP00000417192:p.Glu165*	Somatic		Capture	Illumina HiSeq	Phase_I	115438119	Q6NSW4|Q6NT14	Nonsense_Mutation	SNP	ENST00000482457.2	37	CCDS2979.1	.	.	.	.	.	.	.	.	.	.	C	37	6.275819	0.97435	.	.	ENSG00000174255	ENST00000482457	.	.	.	3.0	1.14	0.20703	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	5.4355	0.16478	0.1987:0.6838:0.0:0.1175	.	.	.	.	X	165	.	ENSP00000309812:E165X	E	-	1	0	ZNF80	115438119	0.000000	0.05858	0.005000	0.12908	0.342000	0.28953	-1.005000	0.03674	0.289000	0.22422	0.491000	0.48974	GAA		ZNF80-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354696.2	NM_007136	
FAIM	55179	hgsc.bcm.edu	37	3	138341076	138341076	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr3:138341076C>T	ENST00000393035.2	+	3	267	c.158C>T	c.(157-159)aCa>aTa	p.T53I	FAIM_ENST00000338446.4_Missense_Mutation_p.T87I|FAIM_ENST00000464668.1_Missense_Mutation_p.T53I|FAIM_ENST00000360570.3_Missense_Mutation_p.T75I|FAIM_ENST00000393034.2_Missense_Mutation_p.T53I	NM_001033032.1	NP_001028204.1	Q9NVQ4	FAIM1_HUMAN	Fas apoptotic inhibitory molecule	53					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)	cytoplasm (GO:0005737)				kidney(1)|upper_aerodigestive_tract(1)	2						GGCAAAGAAACATTCTATGTT	0.318																																																	0			3											70.0	73.0	72.0					3																	138341076		2203	4300	6503	139823766	SO:0001583	missense	55179			AK001444	CCDS3103.1, CCDS33864.1, CCDS33865.1	3q23	2008-07-18			ENSG00000158234	ENSG00000158234			18703	protein-coding gene	gene with protein product						10075978	Standard	NM_018147		Approved	FLJ10582, FAIM1	uc003esq.3	Q9NVQ4	OTTHUMG00000159885	ENST00000393035.2:c.158C>T	3.37:g.138341076C>T	ENSP00000376755:p.Thr53Ile	Somatic		Capture	Illumina HiSeq	Phase_I	139823766	Q6IAN2	Missense_Mutation	SNP	ENST00000393035.2	37	CCDS3103.1	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485329	0.63962	.	.	ENSG00000158234	ENST00000338446;ENST00000360570;ENST00000393035;ENST00000393034;ENST00000464668;ENST00000479848	T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.42585	0.1209	M	0.73217	2.22	0.80722	D	1	B;P;P;B	0.36683	0.164;0.565;0.565;0.02	B;B;B;B	0.36335	0.22;0.222;0.222;0.055	T	0.29027	-1.0025	10	0.41790	T	0.15	-3.3881	18.0409	0.89318	0.0:1.0:0.0:0.0	.	53;75;87;53	Q9NVQ4;Q9NVQ4-3;Q9NVQ4-2;C9JDZ2	FAIM1_HUMAN;.;.;.	I	87;75;53;53;53;53	ENSP00000342805:T87I;ENSP00000353775:T75I;ENSP00000376755:T53I;ENSP00000376754:T53I;ENSP00000417642:T53I;ENSP00000420543:T53I	ENSP00000342805:T87I	T	+	2	0	FAIM	139823766	1.000000	0.71417	1.000000	0.80357	0.662000	0.39071	6.056000	0.71111	2.850000	0.98022	0.650000	0.86243	ACA		FAIM-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357979.1	NM_001033032	
FOXL2NB	401089	hgsc.bcm.edu	37	3	138668423	138668423	+	Silent	SNP	C	C	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr3:138668423C>T	ENST00000383165.3	+	2	293	c.162C>T	c.(160-162)atC>atT	p.I54I	FOXL2_ENST00000330315.3_5'Flank	NM_001040061.2	NP_001035150.1	Q6ZUU3	FOXNB_HUMAN		54										large_intestine(1)|lung(3)	4						GGGCTGGAATCGGTCTCCCCA	0.527																																																	0			3											76.0	81.0	80.0					3																	138668423		1949	4154	6103	140151113	SO:0001819	synonymous_variant	401089																														ENST00000383165.3:c.162C>T	3.37:g.138668423C>T		Somatic		Capture	Illumina HiSeq	Phase_I	140151113	A6NGX0	Silent	SNP	ENST00000383165.3	37	CCDS43155.1																																																																																				C3orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357986.1		
PAQR9	344838	hgsc.bcm.edu	37	3	142681549	142681549	+	Silent	SNP	G	G	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr3:142681549G>A	ENST00000340634.3	-	1	629	c.630C>T	c.(628-630)cgC>cgT	p.R210R	RP11-372E1.6_ENST00000595774.1_RNA|RP11-372E1.6_ENST00000598139.1_RNA|RP11-372E1.6_ENST00000595248.1_RNA|RP11-372E1.6_ENST00000598787.1_RNA|RP11-372E1.6_ENST00000593321.1_RNA|RP11-372E1.6_ENST00000608349.1_RNA|RP11-372E1.6_ENST00000607937.1_RNA|RP11-372E1.6_ENST00000493825.1_RNA|RP11-372E1.6_ENST00000497652.1_RNA|RP11-372E1.6_ENST00000594095.1_RNA|RP11-372E1.6_ENST00000478823.1_RNA|RP11-372E1.6_ENST00000608686.1_RNA	NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	210						integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						GCACCAGGGCGCGGTAGGCGG	0.657																																																	0			3											38.0	36.0	37.0					3																	142681549		2203	4299	6502	144164239	SO:0001819	synonymous_variant	344838			AY424287	CCDS3128.1	3q23	2008-05-02			ENSG00000188582	ENSG00000188582			30131	protein-coding gene	gene with protein product		614580					Standard	NM_198504		Approved	FLJ41938	uc003evg.3	Q6ZVX9	OTTHUMG00000159313	ENST00000340634.3:c.630C>T	3.37:g.142681549G>A		Somatic		Capture	Illumina HiSeq	Phase_I	144164239	Q147T6	Silent	SNP	ENST00000340634.3	37	CCDS3128.1																																																																																				PAQR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354538.1	NM_198504	
CP	1356	hgsc.bcm.edu	37	3	148930325	148930325	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr3:148930325C>A	ENST00000264613.6	-	2	569	c.307G>T	c.(307-309)Gat>Tat	p.D103Y		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	103	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TAAACTTTATCTCCAGTTTCA	0.398																																																	0			3											119.0	120.0	119.0					3																	148930325		2203	4300	6503	150413015	SO:0001583	missense	1356			M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.307G>T	3.37:g.148930325C>A	ENSP00000264613:p.Asp103Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	150413015	Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860375	0.71834	.	.	ENSG00000047457	ENST00000264613;ENST00000455472	D;D	0.99454	-5.92;-5.92	5.42	4.54	0.55810	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.099520	0.64402	D	0.000002	D	0.99753	0.9901	H	0.98370	4.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96833	0.9612	10	0.87932	D	0	-26.4056	16.315	0.82915	0.0:0.8676:0.1324:0.0	.	103;103	A8K5A4;P00450	.;CERU_HUMAN	Y	103;143	ENSP00000264613:D103Y;ENSP00000426888:D143Y	ENSP00000264613:D103Y	D	-	1	0	CP	150413015	1.000000	0.71417	0.990000	0.47175	0.982000	0.71751	7.320000	0.79064	1.513000	0.48852	-0.300000	0.09419	GAT		CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096	
VEPH1	79674	hgsc.bcm.edu	37	3	157004361	157004361	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr3:157004361G>T	ENST00000362010.2	-	12	2420	c.2113C>A	c.(2113-2115)Cct>Act	p.P705T	VEPH1_ENST00000392832.2_Missense_Mutation_p.P705T|RP11-550I24.2_ENST00000494885.1_RNA|RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000392833.2_Missense_Mutation_p.P660T|VEPH1_ENST00000543418.1_Missense_Mutation_p.P660T|RP11-550I24.2_ENST00000487238.1_RNA|RP11-550I24.2_ENST00000488040.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	705						plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			GCTTTCTCAGGATTGTTGCAC	0.488																																																	0			3											225.0	209.0	214.0					3																	157004361		2203	4300	6503	158487055	SO:0001583	missense	79674			AL713656	CCDS3179.1, CCDS54661.1, CCDS54662.1, CCDS54663.1	3q24-q25	2013-01-10	2012-12-10		ENSG00000197415	ENSG00000197415		"""Pleckstrin homology (PH) domain containing"""	25735	protein-coding gene	gene with protein product		609594	"""ventricular zone expressed PH domain homolog 1 (zebrafish)"""			11214970, 15388229	Standard	NM_024621		Approved	FLJ12604, KIAA1692	uc003fbk.2	Q14D04	OTTHUMG00000158711	ENST00000362010.2:c.2113C>A	3.37:g.157004361G>T	ENSP00000354919:p.Pro705Thr	Somatic		Capture	Illumina HiSeq	Phase_I	158487055	D3DNL0|F5GZ91|Q2TAA9|Q3MIX2|Q6PEL3|Q86TL5|Q8TCR3|Q96SP7|Q9C0H1|Q9H9Q7	Missense_Mutation	SNP	ENST00000362010.2	37	CCDS3179.1	.	.	.	.	.	.	.	.	.	.	G	23.8	4.454115	0.84209	.	.	ENSG00000197415	ENST00000392833;ENST00000362010;ENST00000543418;ENST00000392832	T;T;T;T	0.56941	2.4;0.43;2.4;0.43	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.73401	0.3582	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.74965	-0.3484	10	0.87932	D	0	-11.9826	18.8102	0.92054	0.0:0.0:1.0:0.0	.	660;705	Q14D04-2;Q14D04	.;MELT_HUMAN	T	660;705;660;705	ENSP00000376578:P660T;ENSP00000354919:P705T;ENSP00000446258:P660T;ENSP00000376577:P705T	ENSP00000354919:P705T	P	-	1	0	VEPH1	158487055	1.000000	0.71417	0.995000	0.50966	0.925000	0.55904	8.811000	0.91954	2.738000	0.93877	0.637000	0.83480	CCT		VEPH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351845.3	NM_024621	
PRKCI	5584	hgsc.bcm.edu	37	3	170009728	170009728	+	Splice_Site	SNP	T	T	C			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr3:170009728T>C	ENST00000295797.4	+	13	1595	c.1290T>C	c.(1288-1290)taT>taC	p.Y430Y		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	430	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	GAGAAGATTATGGTAATAAAT	0.348																																																	0			3											42.0	43.0	42.0					3																	170009728		2203	4298	6501	171492422	SO:0001630	splice_region_variant	5584				CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.1291+1T>C	3.37:g.170009728T>C		Somatic		Capture	Illumina HiSeq	Phase_I	171492422	D3DNQ4|Q8WW06	Silent	SNP	ENST00000295797.4	37	CCDS3212.2																																																																																				PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316866.3	NM_002740	Silent
PIK3CA	5290	hgsc.bcm.edu	37	3	178936072	178936072	+	Silent	SNP	T	T	C			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr3:178936072T>C	ENST00000263967.3	+	10	1771	c.1614T>C	c.(1612-1614)gaT>gaC	p.D538D		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	538	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|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)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CTACACGAGATCCTCTCTCTG	0.328		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	0			3											52.0	52.0	52.0					3																	178936072		1806	4068	5874	180418766	SO:0001819	synonymous_variant	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1614T>C	3.37:g.178936072T>C		Somatic		Capture	Illumina HiSeq	Phase_I	180418766	Q14CW1|Q99762	Silent	SNP	ENST00000263967.3	37	CCDS43171.1																																																																																				PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
HRG	3273	hgsc.bcm.edu	37	3	186395001	186395001	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr3:186395001G>A	ENST00000232003.4	+	7	987	c.907G>A	c.(907-909)Gaa>Aaa	p.E303K		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	303	Pro-rich.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		TCCTCCAGATGAAAGAGATCA	0.527																																																	0			3											209.0	170.0	184.0					3																	186395001		2203	4300	6503	187877695	SO:0001583	missense	3273				CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.907G>A	3.37:g.186395001G>A	ENSP00000232003:p.Glu303Lys	Somatic		Capture	Illumina HiSeq	Phase_I	187877695	B9EK35|D3DNU7	Missense_Mutation	SNP	ENST00000232003.4	37	CCDS3280.1	.	.	.	.	.	.	.	.	.	.	G	0.652	-0.808978	0.02819	.	.	ENSG00000113905	ENST00000232003	T	0.20332	2.08	3.76	1.92	0.25849	.	1.401000	0.04631	N	0.403727	T	0.11410	0.0278	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29366	-1.0014	10	0.08381	T	0.77	2.1006	5.4632	0.16627	0.1138:0.203:0.6831:0.0	.	303	P04196	HRG_HUMAN	K	303	ENSP00000232003:E303K	ENSP00000232003:E303K	E	+	1	0	HRG	187877695	0.007000	0.16637	0.004000	0.12327	0.001000	0.01503	1.745000	0.38278	0.401000	0.25424	-0.226000	0.12346	GAA		HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412	
WNK1	65125	hgsc.bcm.edu	37	12	988973	988973	+	Missense_Mutation	SNP	A	A	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr12:988973A>T	ENST00000315939.6	+	11	3251	c.2608A>T	c.(2608-2610)Act>Tct	p.T870S	WNK1_ENST00000535572.1_Intron|WNK1_ENST00000537687.1_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.T1368S|WNK1_ENST00000340908.4_Missense_Mutation_p.T463S	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	870					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AGCTGGCATTACTCAGCCTCT	0.532																																					Colon(19;451 567 6672 12618 28860)												0			12											164.0	137.0	146.0					12																	988973		2203	4300	6503	859234	SO:0001583	missense	65125			AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.2608A>T	12.37:g.988973A>T	ENSP00000313059:p.Thr870Ser	Somatic		Capture	Illumina HiSeq	Phase_I	859234	A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	CCDS8506.1	.	.	.	.	.	.	.	.	.	.	A	4.645	0.119958	0.08881	.	.	ENSG00000060237	ENST00000315939;ENST00000530271;ENST00000340908;ENST00000535698	T;T;T;T	0.15834	2.39;2.39;2.39;2.39	5.75	1.92	0.25849	.	0.377586	0.25114	N	0.033031	T	0.05318	0.0141	N	0.03608	-0.345	0.21416	N	0.999692	B	0.02656	0.0	B	0.01281	0.0	T	0.41378	-0.9512	10	0.08837	T	0.75	-3.875	5.3693	0.16131	0.6529:0.1368:0.2103:0.0	.	870	Q9H4A3	WNK1_HUMAN	S	870;1368;463;140	ENSP00000313059:T870S;ENSP00000433548:T1368S;ENSP00000341292:T463S;ENSP00000439552:T140S	ENSP00000313059:T870S	T	+	1	0	WNK1	859234	1.000000	0.71417	0.982000	0.44146	0.912000	0.54170	2.690000	0.47001	0.446000	0.26666	0.455000	0.32223	ACT		WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1	NM_018979	
LRRK2	120892	hgsc.bcm.edu	37	12	40668477	40668477	+	Silent	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr12:40668477A>G	ENST00000298910.7	+	15	1807	c.1749A>G	c.(1747-1749)gaA>gaG	p.E583E	LRRK2_ENST00000343742.2_Silent_p.E583E	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	583					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)	p.E583D(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TATCCCTGGAAGGTGCTATGG	0.363																																																	2	Substitution - Missense(2)	ovary(2)	12											151.0	149.0	150.0					12																	40668477		2203	4300	6503	38954744	SO:0001819	synonymous_variant	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.1749A>G	12.37:g.40668477A>G		Somatic		Capture	Illumina HiSeq	Phase_I	38954744	A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	ENST00000298910.7	37	CCDS31774.1																																																																																				LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	
PRKAG1	5571	hgsc.bcm.edu	37	12	49396782	49396782	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr12:49396782C>T	ENST00000548065.1	-	12	1352	c.896G>A	c.(895-897)cGa>cAa	p.R299Q	RP11-386G11.5_ENST00000552284.1_RNA|PRKAG1_ENST00000547306.1_Missense_Mutation_p.R248Q|RP11-386G11.5_ENST00000552933.1_RNA|PRKAG1_ENST00000552212.1_Missense_Mutation_p.R267Q|PRKAG1_ENST00000316299.5_Missense_Mutation_p.R308Q|PRKAG1_ENST00000395170.3_Missense_Mutation_p.R215Q|RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	299	CBS 4. {ECO:0000255|PROSITE- ProRule:PRU00703}.				cell cycle arrest (GO:0007050)|fatty acid biosynthetic process (GO:0006633)|insulin receptor signaling pathway (GO:0008286)|membrane organization (GO:0061024)|positive regulation of gene expression (GO:0010628)|positive regulation of protein kinase activity (GO:0045860)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of glycolytic process (GO:0006110)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	AMP-activated protein kinase complex (GO:0031588)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ADP binding (GO:0043531)|AMP binding (GO:0016208)|ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)	p.R299Q(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9					Acetylsalicylic acid(DB00945)	CACTACAAGTCGGTGAACCTG	0.542																																																	1	Substitution - Missense(1)	large_intestine(1)	12											146.0	119.0	128.0					12																	49396782		2203	4300	6503	47683049	SO:0001583	missense	5571			U42412	CCDS8777.1, CCDS55824.1, CCDS55825.1	12q12-q14	1998-07-16				ENSG00000181929			9385	protein-coding gene	gene with protein product		602742				8557660, 8621499	Standard	NM_002733		Approved		uc001rsz.3	P54619	OTTHUMG00000170406	ENST00000548065.1:c.896G>A	12.37:g.49396782C>T	ENSP00000447433:p.Arg299Gln	Somatic		Capture	Illumina HiSeq	Phase_I	47683049	B4DDT7|Q8N7V9	Missense_Mutation	SNP	ENST00000548065.1	37	CCDS8777.1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.526842	0.64860	.	.	ENSG00000181929	ENST00000548362;ENST00000395170;ENST00000547306;ENST00000316299;ENST00000548065;ENST00000552212;ENST00000551770;ENST00000551696	D;D;D;D;D;D;D;D	0.94687	-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49;-3.49	5.18	4.28	0.50868	Aldolase-type TIM barrel (1);Cystathionine beta-synthase, core (3);	0.056121	0.64402	D	0.000001	D	0.97620	0.9220	M	0.91920	3.255	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98472	1.0601	10	0.87932	D	0	-4.9987	14.178	0.65555	0.151:0.849:0.0:0.0	.	308;299	Q8N7V9;P54619	.;AAKG1_HUMAN	Q	64;215;248;308;299;267;219;193	ENSP00000446987:R64Q;ENSP00000378599:R215Q;ENSP00000448873:R248Q;ENSP00000323867:R308Q;ENSP00000447433:R299Q;ENSP00000448972:R267Q;ENSP00000449121:R219Q;ENSP00000447671:R193Q	ENSP00000323867:R308Q	R	-	2	0	PRKAG1	47683049	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.574000	0.82434	1.402000	0.46780	0.655000	0.94253	CGA		PRKAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408946.1	NM_002733	
POU6F1	5463	hgsc.bcm.edu	37	12	51584192	51584192	+	Silent	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr12:51584192A>G	ENST00000389243.4	-	11	1683	c.744T>C	c.(742-744)gcT>gcC	p.A248A	POU6F1_ENST00000333640.10_Silent_p.A248A|POU6F1_ENST00000550824.1_Silent_p.A248A			Q14863	PO6F1_HUMAN	POU class 6 homeobox 1	248					brain development (GO:0007420)|heart development (GO:0007507)|muscle organ development (GO:0007517)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	11						AGGCATTGAGAGCCTCTATGG	0.567																																																	0			12											117.0	116.0	116.0					12																	51584192		2203	4300	6503	49870459	SO:0001819	synonymous_variant	5463			AL832881	CCDS31803.1	12q13.13	2011-06-20	2007-07-13			ENSG00000184271		"""Homeoboxes / POU class"""	9224	protein-coding gene	gene with protein product			"""POU domain, class 6, transcription factor 1"""			7908264	Standard	NM_002702		Approved	BRN5, MPOU, TCFB1	uc001rxz.3	Q14863		ENST00000389243.4:c.744T>C	12.37:g.51584192A>G		Somatic		Capture	Illumina HiSeq	Phase_I	49870459	Q15944|Q6DK47|Q7Z7P6	Silent	SNP	ENST00000389243.4	37	CCDS31803.1																																																																																				POU6F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405126.1	NM_002702	
KRT6A	3853	hgsc.bcm.edu	37	12	52886880	52886880	+	Silent	SNP	A	A	C			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr12:52886880A>C	ENST00000330722.6	-	1	161	c.93T>G	c.(91-93)tcT>tcG	p.S31S		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	31	Head.				cell differentiation (GO:0030154)|positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGCTGAAGCCAGAGCGGCTGA	0.662																																																	0			12											39.0	48.0	45.0					12																	52886880		2202	4300	6502	51173147	SO:0001819	synonymous_variant	3853			BC014152, L42593, L42610	CCDS41786.1	12q13.13	2013-01-16			ENSG00000205420	ENSG00000205420		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6443	protein-coding gene	gene with protein product		148041	"""keratin 6C"", ""keratin 6D"""	KRT6C, KRT6D		1713141, 16831889	Standard	NM_005554		Approved	CK6C, K6C, CK6D, K6D	uc001sam.3	P02538	OTTHUMG00000169597	ENST00000330722.6:c.93T>G	12.37:g.52886880A>C		Somatic		Capture	Illumina HiSeq	Phase_I	51173147	A4QPC1|P48667|Q08AR4|Q6NT67|Q96CL4	Silent	SNP	ENST00000330722.6	37	CCDS41786.1																																																																																				KRT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404978.2	NM_005554	
ITGB7	3695	hgsc.bcm.edu	37	12	53590473	53590473	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr12:53590473T>C	ENST00000267082.5	-	6	937	c.706A>G	c.(706-708)Acg>Gcg	p.T236A	ITGB7_ENST00000422257.3_Missense_Mutation_p.T236A|ITGB7_ENST00000550743.2_Missense_Mutation_p.T236A|ITGB7_ENST00000338737.4_Missense_Mutation_p.T236A	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	236	VWFA.				cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte tethering or rolling (GO:0050901)|multicellular organismal development (GO:0007275)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alpha4-beta7 complex (GO:0034669)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)|virus receptor activity (GO:0001618)			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCGTCCCCCGTCAGGGACAGC	0.642																																																	0			12											48.0	43.0	45.0					12																	53590473		2203	4300	6503	51876740	SO:0001583	missense	3695				CCDS8849.1	12q13.1	2010-03-23				ENSG00000139626		"""Integrins"""	6162	protein-coding gene	gene with protein product		147559				2040616	Standard	XM_005268851		Approved		uc001scc.3	P26010		ENST00000267082.5:c.706A>G	12.37:g.53590473T>C	ENSP00000267082:p.Thr236Ala	Somatic		Capture	Illumina HiSeq	Phase_I	51876740	Q9UCP7|Q9UCS7	Missense_Mutation	SNP	ENST00000267082.5	37	CCDS8849.1	.	.	.	.	.	.	.	.	.	.	T	18.92	3.725548	0.68959	.	.	ENSG00000139626	ENST00000422257;ENST00000267082;ENST00000338737;ENST00000542497	D;D;D;D	0.98329	-4.87;-4.87;-4.87;-4.87	4.65	4.65	0.58169	Integrin beta subunit, N-terminal (2);von Willebrand factor, type A (1);	0.225469	0.22853	N	0.054824	D	0.98940	0.9640	M	0.86420	2.815	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.99723	1.1010	10	0.87932	D	0	.	13.7943	0.63162	0.0:0.0:0.0:1.0	.	236	P26010	ITB7_HUMAN	A	236	ENSP00000408741:T236A;ENSP00000267082:T236A;ENSP00000345501:T236A;ENSP00000437375:T236A	ENSP00000267082:T236A	T	-	1	0	ITGB7	51876740	1.000000	0.71417	0.685000	0.30070	0.277000	0.26821	7.997000	0.88414	2.041000	0.60428	0.454000	0.30748	ACG		ITGB7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405821.2		
GRIP1	23426	hgsc.bcm.edu	37	12	66849242	66849242	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr12:66849242G>A	ENST00000398016.3	-	10	1213	c.1145C>T	c.(1144-1146)cCa>cTa	p.P382L	GRIP1_ENST00000359742.4_Missense_Mutation_p.P434L|GRIP1_ENST00000286445.7_Missense_Mutation_p.P434L	NM_021150.3	NP_066973.2	Q96DT0	LEG12_HUMAN	glutamate receptor interacting protein 1	0					intrinsic apoptotic signaling pathway (GO:0097193)	nucleus (GO:0005634)	lactose binding (GO:0030395)			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GGTTCCACGTGGGCTGGTGGA	0.488																																																	0			12											159.0	157.0	157.0					12																	66849242		1954	4158	6112	65135509	SO:0001583	missense	85329			AJ133439	CCDS41807.1	12q13.13	2008-05-02			ENSG00000155974	ENSG00000155974			18708	protein-coding gene	gene with protein product		604597				10197531	Standard	NM_021150		Approved		uc001stk.3	Q9Y3R0	OTTHUMG00000169019	ENST00000398016.3:c.1145C>T	12.37:g.66849242G>A	ENSP00000381098:p.Pro382Leu	Somatic		Capture	Illumina HiSeq	Phase_I	65135509	B2R9N2|G5E970|Q96DS9|Q96PR9|Q9H258|Q9H259|Q9NZ02	Missense_Mutation	SNP	ENST00000398016.3	37	CCDS41807.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.3|22.3	4.275483|4.275483	0.80580|0.80580	.|.	.|.	ENSG00000155974|ENSG00000155974	ENST00000538164|ENST00000398016;ENST00000359742;ENST00000286445;ENST00000538211;ENST00000540433	.|T;T;T;T;T	.|0.23147	.|1.92;1.99;1.99;1.93;2.04	5.51|5.51	5.51|5.51	0.81932|0.81932	.|.	.|0.106321	.|0.64402	.|D	.|0.000003	T|T	0.50939|0.50939	0.1645|0.1645	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	.|D;B;D	.|0.61080	.|0.972;0.317;0.989	.|P;B;D	.|0.65140	.|0.844;0.177;0.932	T|T	0.41124|0.41124	-0.9526|-0.9526	5|9	.|.	.|.	.|.	-11.5531|-11.5531	19.8063|19.8063	0.96533|0.96533	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|382;382;434	.|F5H4N6;Q9Y3R0-3;Q9Y3R0-2	.|.;.;.	Y|L	249|382;434;434;382;326	.|ENSP00000381098:P382L;ENSP00000352780:P434L;ENSP00000286445:P434L;ENSP00000446047:P382L;ENSP00000446024:P326L	.|.	H|P	-|-	1|2	0|0	GRIP1|GRIP1	65135509|65135509	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	9.869000|9.869000	0.99810|0.99810	2.767000|2.767000	0.95098|0.95098	0.561000|0.561000	0.74099|0.74099	CAC|CCA		GRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401975.2		
LGR5	8549	hgsc.bcm.edu	37	12	71965354	71965354	+	Silent	SNP	G	G	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr12:71965354G>A	ENST00000266674.5	+	12	1442	c.1131G>A	c.(1129-1131)caG>caA	p.Q377Q	LGR5_ENST00000540815.2_Silent_p.Q353Q|LGR5_ENST00000536515.1_Silent_p.Q305Q			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	377					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						AAAAGCTTCAGAAAATGTAAG	0.378																																																	0			12											84.0	81.0	82.0					12																	71965354		2203	4299	6502	70251621	SO:0001819	synonymous_variant	8549			AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.1131G>A	12.37:g.71965354G>A		Somatic		Capture	Illumina HiSeq	Phase_I	70251621	D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Silent	SNP	ENST00000266674.5	37	CCDS9000.1																																																																																				LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667	
KCNC2	3747	hgsc.bcm.edu	37	12	75444893	75444893	+	Silent	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr12:75444893A>G	ENST00000549446.1	-	3	1572	c.892T>C	c.(892-894)Tta>Cta	p.L298L	KCNC2_ENST00000341669.3_Silent_p.L298L|KCNC2_ENST00000540018.1_Silent_p.L298L|KCNC2_ENST00000393288.2_Silent_p.L298L|KCNC2_ENST00000548243.1_5'Flank|KCNC2_ENST00000550433.1_Silent_p.L298L|KCNC2_ENST00000298972.1_Silent_p.L298L|KCNC2_ENST00000548513.1_Silent_p.L298L|KCNC2_ENST00000350228.2_Silent_p.L298L	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	298					action potential (GO:0001508)|energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54					Dalfampridine(DB06637)	ATACGGACTAAAAATTCAAAA	0.378																																																	0			12											129.0	118.0	122.0					12																	75444893		2203	4300	6503	73731160	SO:0001819	synonymous_variant	3747			AF268896	CCDS9005.1, CCDS9006.1, CCDS9007.1, CCDS58255.1, CCDS58256.1, CCDS58257.1	12q14.1	2012-07-05						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6234	protein-coding gene	gene with protein product		176256				8111118, 16382104	Standard	NM_139136		Approved	Kv3.2	uc001sxg.2	Q96PR1	OTTHUMG00000169717	ENST00000549446.1:c.892T>C	12.37:g.75444893A>G		Somatic		Capture	Illumina HiSeq	Phase_I	73731160	B7Z231|F5H030|J3KPP5|Q4LE77|Q86W09|Q8N1V9|Q96PR0	Silent	SNP	ENST00000549446.1	37	CCDS9007.1																																																																																				KCNC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405581.2	NM_153748	
KRR1	11103	hgsc.bcm.edu	37	12	75897753	75897753	+	Silent	SNP	G	G	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr12:75897753G>A	ENST00000229214.4	-	7	785	c.762C>T	c.(760-762)cgC>cgT	p.R254R	KRR1_ENST00000438169.2_Intron	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	254	Lys-rich.				rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TTGGTTCCTTGCGTTTATTCA	0.358																																																	0			12											217.0	201.0	207.0					12																	75897753		2203	4300	6503	74184020	SO:0001819	synonymous_variant	11103			U55766	CCDS9012.1	12q	2011-03-15	2006-05-18	2006-05-18	ENSG00000111615	ENSG00000111615			5176	protein-coding gene	gene with protein product		612817	"""HIV-1 rev binding protein 2"", ""HIV-1 Rev binding protein 2"""	HRB2		7505766, 11027267, 11359931, 8675026	Standard	NM_007043		Approved	RIP-1	uc001sxt.3	Q13601	OTTHUMG00000169759	ENST00000229214.4:c.762C>T	12.37:g.75897753G>A		Somatic		Capture	Illumina HiSeq	Phase_I	74184020	A0FIK6|A0JLP0|B2R989|E7EUQ0|Q8NEA8|Q8TC37|Q96AT5	Silent	SNP	ENST00000229214.4	37	CCDS9012.1																																																																																				KRR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405727.1	NM_007043	
GAS2L3	283431	hgsc.bcm.edu	37	12	101012348	101012349	+	Nonsense_Mutation	DNP	GA	GA	TG			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G|A	G|A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr12:101012348_101012349GA>TG	ENST00000539410.1	+	7	1017_1018	c.631_632GA>TG	c.(631-633)GAa>TGa	p.E211*	GAS2L3_ENST00000537247.1_Nonsense_Mutation_p.E107*|GAS2L3_ENST00000547754.1_Nonsense_Mutation_p.E211*|GAS2L3_ENST00000266754.5_Nonsense_Mutation_p.E211*			Q86XJ1	GA2L3_HUMAN	growth arrest-specific 2 like 3	211	GAR. {ECO:0000255|PROSITE- ProRule:PRU00792}.				actin cytoskeleton organization (GO:0030036)|cell cycle arrest (GO:0007050)|microtubule cytoskeleton organization (GO:0000226)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	actin binding (GO:0003779)|microtubule binding (GO:0008017)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35						CTGTCGGCATGAAGAGCTACAT	0.396																																																	0			12																																								99536479|99536480	SO:0001587	stop_gained	283431			AK095594	CCDS9079.1	12q23.1	2014-09-11			ENSG00000139354	ENSG00000139354			27475	protein-coding gene	gene with protein product							Standard	NM_174942		Approved		uc001thu.3	Q86XJ1	OTTHUMG00000170439	Exception_encountered	12.37:g.101012348_101012349delinsTG	ENSP00000439672:p.Glu211*	Somatic		Capture	Illumina HiSeq	Phase_I	99536479|99536480	B2RCN2	Nonsense_Mutation|Missense_Mutation	SNP	ENST00000539410.1	37	CCDS9079.1																																																																																				GAS2L3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409143.1	NM_174942	
PRDM4	11108	hgsc.bcm.edu	37	12	108128244	108128244	+	Missense_Mutation	SNP	A	A	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr12:108128244A>T	ENST00000228437.5	-	12	2608	c.2149T>A	c.(2149-2151)Tta>Ata	p.L717I	RP11-864J10.4_ENST00000546829.1_RNA|RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	717					cell proliferation (GO:0008283)|negative regulation of cell cycle (GO:0045786)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|methyltransferase activity (GO:0008168)|zinc ion binding (GO:0008270)			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TGCTTCTTTAAGTGATTTGTT	0.383																																																	0			12											187.0	189.0	188.0					12																	108128244		2203	4300	6503	106652374	SO:0001583	missense	11108			AF144757	CCDS9115.1	12q23-q24.1	2013-01-08				ENSG00000110851		"""Zinc fingers, C2H2-type"""	9348	protein-coding gene	gene with protein product		605780				10552934	Standard	NM_012406		Approved	PFM1	uc001tmp.3	Q9UKN5	OTTHUMG00000169914	ENST00000228437.5:c.2149T>A	12.37:g.108128244A>T	ENSP00000228437:p.Leu717Ile	Somatic		Capture	Illumina HiSeq	Phase_I	106652374	Q9UFA6	Missense_Mutation	SNP	ENST00000228437.5	37	CCDS9115.1	.	.	.	.	.	.	.	.	.	.	A	23.4	4.415140	0.83449	.	.	ENSG00000110851	ENST00000228437	T	0.14640	2.49	6.03	3.68	0.42216	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	0.43765	0.1262	H	0.94847	3.59	0.50467	D	0.999871	D	0.63880	0.993	D	0.76071	0.987	T	0.48007	-0.9072	10	0.87932	D	0	-0.7729	7.3147	0.26493	0.6665:0.0:0.3335:0.0	.	717	Q9UKN5	PRDM4_HUMAN	I	717	ENSP00000228437:L717I	ENSP00000228437:L717I	L	-	1	2	PRDM4	106652374	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.060000	0.41394	1.118000	0.41863	0.454000	0.30748	TTA		PRDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406546.1	NM_012406	
PTPN11	5781	hgsc.bcm.edu	37	12	112915743	112915743	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr12:112915743A>G	ENST00000351677.2	+	9	1214	c.1016A>G	c.(1015-1017)aAt>aGt	p.N339S	PTPN11_ENST00000392597.1_Missense_Mutation_p.N339S	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	339	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				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.N339S(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						AACACGGTGAATGACTTTTGG	0.413			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																															Dom	yes		12	12q24.1	5781	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	L	1	Substitution - Missense(1)	ovary(1)	12											70.0	63.0	66.0					12																	112915743		2203	4300	6503	111400126	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.1016A>G	12.37:g.112915743A>G	ENSP00000340944:p.Asn339Ser	Somatic		Capture	Illumina HiSeq	Phase_I	111400126	A8K1D9|Q96HD7	Missense_Mutation	SNP	ENST00000351677.2	37	CCDS9163.1	.	.	.	.	.	.	.	.	.	.	A	11.01	1.512834	0.27123	.	.	ENSG00000179295	ENST00000392597;ENST00000351677	D;D	0.83075	-1.68;-1.68	6.03	6.03	0.97812	.	0.124428	0.64402	D	0.000001	T	0.76608	0.4011	L	0.33093	0.98	0.44000	D	0.996707	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.70223	-0.4931	10	0.31617	T	0.26	.	16.6115	0.84884	1.0:0.0:0.0:0.0	.	339;339	Q06124-2;Q06124-3	.;.	S	339	ENSP00000376376:N339S;ENSP00000340944:N339S	ENSP00000340944:N339S	N	+	2	0	PTPN11	111400126	1.000000	0.71417	0.945000	0.38365	0.921000	0.55340	4.731000	0.62022	2.327000	0.79052	0.524000	0.50904	AAT		PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2		
NOS1	4842	hgsc.bcm.edu	37	12	117718606	117718606	+	Missense_Mutation	SNP	T	T	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr12:117718606T>G	ENST00000338101.4	-	7	1452	c.1448A>C	c.(1447-1449)cAg>cCg	p.Q483P	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000317775.6_Missense_Mutation_p.Q483P			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		GCGGATGAGCTGGGAGTTCCA	0.627																																					Esophageal Squamous(162;1748 2599 51982 52956)												0			12											60.0	70.0	67.0					12																	117718606		2108	4248	6356	116202989	SO:0001583	missense	340719				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.1448A>C	12.37:g.117718606T>G	ENSP00000337459:p.Gln483Pro	Somatic		Capture	Illumina HiSeq	Phase_I	116202989		Missense_Mutation	SNP	ENST00000338101.4	37	CCDS55890.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.744164	0.89663	.	.	ENSG00000089250	ENST00000397605;ENST00000317775;ENST00000541241;ENST00000338101	T;T	0.31247	1.5;1.5	5.14	5.14	0.70334	Nitric oxide synthase, oxygenase domain (3);	0.000000	0.85682	D	0.000000	T	0.68302	0.2986	H	0.96547	3.84	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79864	-0.1623	10	0.87932	D	0	-33.6262	15.1255	0.72481	0.0:0.0:0.0:1.0	.	483	P29475	NOS1_HUMAN	P	483	ENSP00000320758:Q483P;ENSP00000337459:Q483P	ENSP00000320758:Q483P	Q	-	2	0	NOS1	116202989	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	7.818000	0.86416	2.144000	0.66660	0.460000	0.39030	CAG		NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1		
ATP10A	57194	hgsc.bcm.edu	37	15	26026234	26026234	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr15:26026234C>T	ENST00000356865.6	-	2	697	c.586G>A	c.(586-588)Gag>Aag	p.E196K		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	196					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TTGGCGGTCTCGATGTGGCAT	0.602																																																	0			15											90.0	88.0	89.0					15																	26026234		2203	4300	6503	23577327	SO:0001583	missense	57194			AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.586G>A	15.37:g.26026234C>T	ENSP00000349325:p.Glu196Lys	Somatic		Capture	Illumina HiSeq	Phase_I	23577327	Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	C	35	5.482963	0.96307	.	.	ENSG00000206190	ENST00000356865	D	0.90385	-2.66	4.67	4.67	0.58626	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.97077	0.9045	H	0.97758	4.07	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.98452	1.0592	10	0.72032	D	0.01	-31.4504	16.7413	0.85460	0.0:1.0:0.0:0.0	.	196	O60312	AT10A_HUMAN	K	196	ENSP00000349325:E196K	ENSP00000349325:E196K	E	-	1	0	ATP10A	23577327	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	7.356000	0.79445	2.428000	0.82296	0.561000	0.74099	GAG		ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490	
MGA	23269	hgsc.bcm.edu	37	15	41961094	41961094	+	Start_Codon_SNP	SNP	T	T	C			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr15:41961094T>C	ENST00000570161.1	+	1	2	c.2T>C	c.(1-3)aTg>aCg	p.M1T	MGA_ENST00000219905.7_Start_Codon_SNP_p.M1T|MGA_ENST00000545763.1_Start_Codon_SNP_p.M1T|MGA_ENST00000389936.4_Start_Codon_SNP_p.M1T|MGA_ENST00000568630.1_Intron|MGA_ENST00000566586.1_Start_Codon_SNP_p.M1T			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ACTGAAATCATGGAGGAGAAA	0.413																																																	0			15											117.0	113.0	114.0					15																	41961094		1943	4159	6102	39748386	SO:0001582	initiator_codon_variant	23269			AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.2T>C	15.37:g.41961094T>C	ENSP00000457035:p.Met1Thr	Somatic		Capture	Illumina HiSeq	Phase_I	39748386	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	ENST00000570161.1	37	CCDS55959.1	.	.	.	.	.	.	.	.	.	.	T	14.22	2.470914	0.43942	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.84516	-1.84;-1.86;-1.82	5.37	4.07	0.47477	.	0.232985	0.30185	N	0.010214	D	0.88994	0.6589	.	.	.	0.80722	D	1	P;P	0.48998	0.918;0.867	P;P	0.61132	0.884;0.769	D	0.88944	0.3382	9	0.87932	D	0	.	5.991	0.19460	0.1423:0.1089:0.0:0.7489	.	1;1	F5H7K2;E7ENI0	.;.	T	1	ENSP00000219905:M1T;ENSP00000374586:M1T;ENSP00000442467:M1T	ENSP00000219905:M1T	M	+	2	0	MGA	39748386	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.830000	0.48136	2.161000	0.67846	0.528000	0.53228	ATG		MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000420229.1	NM_001164273.1	Missense_Mutation
AKAP13	11214	hgsc.bcm.edu	37	15	86269655	86269655	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr15:86269655C>A	ENST00000394518.2	+	27	6855	c.6760C>A	c.(6760-6762)Ctt>Att	p.L2254I	RP11-158M2.2_ENST00000561417.1_RNA|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Missense_Mutation_p.L499I|AKAP13_ENST00000361243.2_Missense_Mutation_p.L2258I	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2254	Interaction with ESR1.|PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nuclear export (GO:0051168)|positive regulation of apoptotic process (GO:0043065)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle hypertrophy (GO:0010611)|regulation of glucocorticoid mediated signaling pathway (GO:1900169)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	cAMP-dependent protein kinase activity (GO:0004691)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TCAAGCAGTTCTTCTCACTGA	0.348																																					Melanoma(94;603 1453 3280 32295 32951)												0			15											187.0	189.0	188.0					15																	86269655		2202	4298	6500	84070659	SO:0001583	missense	11214			M90360	CCDS32319.1, CCDS32320.1, CCDS73778.1	15q24-q25	2013-01-10	2002-06-13			ENSG00000170776		"""A-kinase anchor proteins"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	371	protein-coding gene	gene with protein product		604686	"""lymphoid blast crisis oncogene"""	LBC		9627117, 1860836	Standard	NM_007200		Approved	Ht31, BRX, AKAP-Lbc, c-lbc, PROTO-LB, HA-3, ARHGEF13	uc002blu.2	Q12802		ENST00000394518.2:c.6760C>A	15.37:g.86269655C>A	ENSP00000378026:p.Leu2254Ile	Somatic		Capture	Illumina HiSeq	Phase_I	84070659	Q14572|Q59FP6|Q86W90|Q8WXQ6|Q96JP6|Q96P79|Q9Y5T0|Q9Y5T6	Missense_Mutation	SNP	ENST00000394518.2	37	CCDS32319.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766626	0.90020	.	.	ENSG00000170776	ENST00000426424;ENST00000361243;ENST00000394518;ENST00000394516;ENST00000458540;ENST00000394510	D;D;D	0.91792	-1.61;-1.61;-2.91	5.31	4.39	0.52855	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	D	0.95887	0.8661	M	0.87038	2.855	0.49389	D	0.999786	P;P;P	0.41420	0.705;0.749;0.705	P;P;P	0.60012	0.791;0.867;0.791	D	0.96165	0.9118	9	0.87932	D	0	.	12.4559	0.55704	0.0:0.9192:0.0:0.0808	.	2234;2254;2258	Q12802-4;Q12802;Q12802-2	.;AKP13_HUMAN;.	I	334;2258;2254;2257;2233;499	ENSP00000354718:L2258I;ENSP00000378026:L2254I;ENSP00000378018:L499I	ENSP00000354718:L2258I	L	+	1	0	AKAP13	84070659	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	4.434000	0.59935	2.484000	0.83849	0.484000	0.47621	CTT		AKAP13-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417318.1	NM_007200	
MXRA5	25878	hgsc.bcm.edu	37	X	3229192	3229192	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chrX:3229192T>C	ENST00000217939.6	-	7	7206	c.7052A>G	c.(7051-7053)aAg>aGg	p.K2351R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2351	Ig-like C2-type 8.					extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAAGTAAGTCTTGTTCCGGAT	0.562																																																	0			X											152.0	124.0	133.0					X																	3229192		2203	4300	6503	3239192	SO:0001583	missense	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.7052A>G	X.37:g.3229192T>C	ENSP00000217939:p.Lys2351Arg	Somatic		Capture	Illumina HiSeq	Phase_I	3239192	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	T	12.88	2.070727	0.36566	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.64085	-0.08	4.29	4.29	0.51040	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.39687	U	0.001284	T	0.53706	0.1813	L	0.31157	0.91	0.44221	D	0.997057	B	0.31625	0.332	B	0.38954	0.286	T	0.51100	-0.8748	10	0.29301	T	0.29	.	12.9595	0.58449	0.0:0.0:0.0:1.0	.	2351	Q9NR99	MXRA5_HUMAN	R	2351	ENSP00000217939:K2351R	ENSP00000217939:K2351R	K	-	2	0	MXRA5	3239192	1.000000	0.71417	0.852000	0.33557	0.258000	0.26162	3.758000	0.55220	1.425000	0.47237	0.483000	0.47432	AAG		MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
CDKL5	6792	hgsc.bcm.edu	37	X	18664127	18664127	+	Splice_Site	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chrX:18664127A>G	ENST00000379989.3	+	20	2999	c.2714A>G	c.(2713-2715)gAc>gGc	p.D905G	CDKL5_ENST00000379996.3_Splice_Site_p.D905G|RS1_ENST00000379984.3_Intron|RS1_ENST00000476595.1_Intron	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	905					neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of Rac GTPase activity (GO:0032855)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of dendrite development (GO:0050773)	cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic growth cone (GO:0044294)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|kinase activity (GO:0016301)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					cactaactagacggtggatgt	0.488																																																	0			X											140.0	112.0	122.0					X																	18664127		2203	4300	6503	18574048	SO:0001630	splice_region_variant	6792			Y15057	CCDS14186.1	Xp22	2011-11-04	2002-11-26	2002-11-29	ENSG00000008086	ENSG00000008086		"""Cyclin-dependent kinases"""	11411	protein-coding gene	gene with protein product		300203	"""serine/threonine kinase 9"""	STK9		9721213, 16935860	Standard	XM_005274584		Approved	EIEE2	uc004cym.3	O76039	OTTHUMG00000021214	ENST00000379989.3:c.2714-1A>G	X.37:g.18664127A>G		Somatic		Capture	Illumina HiSeq	Phase_I	18574048	G9B9X4|Q14198|Q5H985|Q8IYC7|Q9UJL6	Missense_Mutation	SNP	ENST00000379989.3	37	CCDS14186.1	.	.	.	.	.	.	.	.	.	.	A	7.988	0.752565	0.15778	.	.	ENSG00000008086	ENST00000379996;ENST00000379989	T;T	0.68624	-0.34;-0.34	1.89	0.648	0.17801	.	0.326495	0.27577	N	0.018744	T	0.28167	0.0695	N	0.01168	-0.975	0.09310	N	0.999997	B	0.10296	0.003	B	0.06405	0.002	T	0.21008	-1.0258	9	.	.	.	.	4.4178	0.11465	0.6504:0.3496:0.0:0.0	.	905	O76039	CDKL5_HUMAN	G	905	ENSP00000369332:D905G;ENSP00000369325:D905G	.	D	+	2	0	CDKL5	18574048	0.389000	0.25205	0.165000	0.22776	0.063000	0.16089	0.479000	0.22228	0.105000	0.17753	0.340000	0.21749	GAC		CDKL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055945.2	NM_003159	Missense_Mutation
MAOB	4129	hgsc.bcm.edu	37	X	43628574	43628574	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chrX:43628574C>T	ENST00000378069.4	-	13	1474	c.1327G>A	c.(1327-1329)Ggg>Agg	p.G443R	MAOB_ENST00000538942.1_Missense_Mutation_p.R394Q|MAOB_ENST00000536181.1_Missense_Mutation_p.G427R	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	443					negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909)	GCTCTCTCCCCGGCCTCTACA	0.567																																																	0			X											74.0	55.0	62.0					X																	43628574		2203	4300	6503	43513518	SO:0001583	missense	4129				CCDS14261.1	Xp11.4-p11.3	2008-02-05			ENSG00000069535	ENSG00000069535	1.4.3.4		6834	protein-coding gene	gene with protein product		309860					Standard	NM_000898		Approved		uc004dfz.4	P27338	OTTHUMG00000021388	ENST00000378069.4:c.1327G>A	X.37:g.43628574C>T	ENSP00000367309:p.Gly443Arg	Somatic		Capture	Illumina HiSeq	Phase_I	43513518	B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	Missense_Mutation	SNP	ENST00000378069.4	37	CCDS14261.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.1|25.1	4.602297|4.602297	0.87055|0.87055	.|.	.|.	ENSG00000069535|ENSG00000069535	ENST00000378069;ENST00000536181|ENST00000538942	D;D|T	0.98585|0.35605	-5.01;-5.01|1.3	6.03|6.03	6.03|6.03	0.97812|0.97812	Amine oxidase (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.56659|0.56659	0.2000|0.2000	H|H	0.96833|0.96833	3.89|3.89	0.42021|0.42021	D|D	0.990988|0.990988	D|B	0.89917|0.29212	1.0|0.237	D|B	0.97110|0.24848	1.0|0.056	T|T	0.64875|0.64875	-0.6304|-0.6304	10|8	0.87932|.	D|.	0|.	-23.4429|-23.4429	18.0899|18.0899	0.89471|0.89471	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	443|394	P27338|B7Z5H3	AOFB_HUMAN|.	R|Q	443;427|394	ENSP00000367309:G443R;ENSP00000441613:G427R|ENSP00000442240:R394Q	ENSP00000367309:G443R|.	G|R	-|-	1|2	0|0	MAOB|MAOB	43513518|43513518	1.000000|1.000000	0.71417|0.71417	0.928000|0.928000	0.36995|0.36995	0.894000|0.894000	0.52154|0.52154	7.008000|7.008000	0.76341|0.76341	2.549000|2.549000	0.85964|0.85964	0.583000|0.583000	0.79449|0.79449	GGG|CGG		MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056303.1	NM_000898	
SLC9A7	84679	hgsc.bcm.edu	37	X	46521556	46521556	+	Silent	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chrX:46521556A>G	ENST00000328306.4	-	7	961	c.936T>C	c.(934-936)acT>acC	p.T312T		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	312					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						CAAAGGCGTGAGTGTTCAGTC	0.418																																					Pancreas(118;454 1696 1930 13865 39976)												0			X											59.0	49.0	52.0					X																	46521556		2203	4300	6503	46406500	SO:0001819	synonymous_variant	84679			AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"""Solute carriers"""	17123	protein-coding gene	gene with protein product		300368	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 7"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 7"""			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.936T>C	X.37:g.46521556A>G		Somatic		Capture	Illumina HiSeq	Phase_I	46406500	O75827|Q5JXP9	Silent	SNP	ENST00000328306.4	37	CCDS14269.1																																																																																				SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056370.1	NM_032591	
CCNB3	85417	hgsc.bcm.edu	37	X	50053621	50053621	+	Missense_Mutation	SNP	G	G	C			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chrX:50053621G>C	ENST00000376042.1	+	6	2750	c.2452G>C	c.(2452-2454)Gag>Cag	p.E818Q	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.E818Q			Q8WWL7	CCNB3_HUMAN	cyclin B3	818					meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TGTCCTCAAGGAGCCCACTAT	0.557																																																	0			X											40.0	36.0	37.0					X																	50053621		2203	4300	6503	50070361	SO:0001583	missense	85417			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.2452G>C	X.37:g.50053621G>C	ENSP00000365210:p.Glu818Gln	Somatic		Capture	Illumina HiSeq	Phase_I	50070361	B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	Missense_Mutation	SNP	ENST00000376042.1	37	CCDS14331.1	.	.	.	.	.	.	.	.	.	.	G	9.183	1.024109	0.19433	.	.	ENSG00000147082	ENST00000376042;ENST00000276014	T;T	0.34859	1.34;1.34	2.43	1.51	0.23008	.	2.524280	0.01497	N	0.017349	T	0.35799	0.0944	L	0.27053	0.805	0.09310	N	1	D	0.59357	0.985	P	0.50270	0.636	T	0.20371	-1.0277	9	.	.	.	.	6.2881	0.21045	0.0:0.309:0.691:0.0	.	818	Q8WWL7	CCNB3_HUMAN	Q	818	ENSP00000365210:E818Q;ENSP00000276014:E818Q	.	E	+	1	0	CCNB3	50070361	0.049000	0.20398	0.002000	0.10522	0.275000	0.26752	0.155000	0.16362	0.431000	0.26258	0.483000	0.47432	GAG		CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056558.1		
UBQLN2	29978	hgsc.bcm.edu	37	X	56590491	56590491	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chrX:56590491C>T	ENST00000338222.5	+	1	466	c.185C>T	c.(184-186)tCg>tTg	p.S62L		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	62	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						GAAGCGATTTCGAAACGCTTC	0.463																																					Esophageal Squamous(104;218 1492 6022 10838 28884)												0			X											21.0	20.0	20.0					X																	56590491		2203	4298	6501	56607216	SO:0001583	missense	29978			AF189009	CCDS14374.1	Xp11.21	2014-09-17			ENSG00000188021	ENSG00000188021		"""Ubiquilin family"""	12509	protein-coding gene	gene with protein product	"""NEDD4 binding protein 4"""	300264				10675567	Standard	NM_013444		Approved	Chap1, Dsk2, RIHFB2157, LIC-2, CHAP1/DSK2, PLIC-2, N4BP4, PLIC2	uc004dus.3	Q9UHD9	OTTHUMG00000021669	ENST00000338222.5:c.185C>T	X.37:g.56590491C>T	ENSP00000345195:p.Ser62Leu	Somatic		Capture	Illumina HiSeq	Phase_I	56607216	O94798|Q5D027|Q9H3W6|Q9HAZ4	Missense_Mutation	SNP	ENST00000338222.5	37	CCDS14374.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.967507	0.74131	.	.	ENSG00000188021	ENST00000338222;ENST00000535171	T	0.73575	-0.76	4.64	4.64	0.57946	Ubiquitin supergroup (1);Ubiquitin (2);	0.000000	0.64402	D	0.000004	D	0.82527	0.5056	L	0.55481	1.735	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.83422	0.0033	10	0.54805	T	0.06	-6.4625	14.1984	0.65686	0.0:1.0:0.0:0.0	.	62;62	B4DZF1;Q9UHD9	.;UBQL2_HUMAN	L	62	ENSP00000345195:S62L	ENSP00000345195:S62L	S	+	2	0	UBQLN2	56607216	1.000000	0.71417	0.840000	0.33206	0.987000	0.75469	7.604000	0.82830	2.317000	0.78254	0.544000	0.68410	TCG		UBQLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056891.1	NM_013444	
AMER1	139285	hgsc.bcm.edu	37	X	63412871	63412871	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chrX:63412871A>G	ENST00000330258.3	-	2	568	c.296T>C	c.(295-297)cTg>cCg	p.L99P	AMER1_ENST00000403336.1_Missense_Mutation_p.L99P|AMER1_ENST00000374869.3_Missense_Mutation_p.L99P	NM_152424.3	NP_689637.3	Q5JTC6	AMER1_HUMAN	APC membrane recruitment protein 1	99					adipose tissue development (GO:0060612)|bone development (GO:0060348)|mesenchymal cell differentiation involved in kidney development (GO:0072161)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.0?(67)									TGCTTCACTCAGGCCATCGTG	0.537																																																	67	Whole gene deletion(67)	kidney(65)|ovary(1)|large_intestine(1)	X											115.0	84.0	94.0					X																	63412871		2203	4300	6503	63329596	SO:0001583	missense	139285			AK097146	CCDS14377.2	Xq11.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000184675	ENSG00000184675		"""-"""	26837	protein-coding gene	gene with protein product	"""Wilms Tumor on the X"", ""adenomatous polyposis coli membrane recruitment 1"""	300647	"""family with sequence similarity 123B"""	FAM123B		21304492, 21498506, 20843316	Standard	NM_152424		Approved	RP11-403E24.2, FLJ39827, WTX	uc004dvo.3	Q5JTC6	OTTHUMG00000021703	ENST00000330258.3:c.296T>C	X.37:g.63412871A>G	ENSP00000329117:p.Leu99Pro	Somatic		Capture	Illumina HiSeq	Phase_I	63329596	A2IB86|Q8N885	Missense_Mutation	SNP	ENST00000330258.3	37	CCDS14377.2	.	.	.	.	.	.	.	.	.	.	A	16.55	3.154119	0.57259	.	.	ENSG00000184675	ENST00000374869;ENST00000330258;ENST00000403336	T;T;T	0.35789	1.29;1.29;1.29	4.59	3.42	0.39159	.	0.191518	0.34750	N	0.003720	T	0.37652	0.1011	M	0.71036	2.16	0.54753	D	0.99998	B	0.25390	0.125	B	0.29598	0.104	T	0.32079	-0.9920	10	0.87932	D	0	-0.8303	8.6403	0.33972	0.9054:0.0:0.0946:0.0	.	99	Q5JTC6	F123B_HUMAN	P	99	ENSP00000364003:L99P;ENSP00000329117:L99P;ENSP00000384722:L99P	ENSP00000329117:L99P	L	-	2	0	FAM123B	63329596	1.000000	0.71417	0.743000	0.31040	0.940000	0.58332	6.859000	0.75467	0.868000	0.35678	0.486000	0.48141	CTG		AMER1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316584.1	NM_152424	
RGAG4	340526	hgsc.bcm.edu	37	X	71351947	71351947	+	5'Flank	SNP	G	G	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chrX:71351947G>A	ENST00000545866.1	-	0	0				NHSL2_ENST00000535692.1_5'Flank|RGAG4_ENST00000609883.1_5'Flank|NHSL2_ENST00000510661.1_5'Flank|NHSL2_ENST00000373677.1_5'Flank|NHSL2_ENST00000540800.1_Missense_Mutation_p.R100Q	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4											cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					AACTCGGGTCGGGAAAATGCG	0.672																																																	0			X											47.0	45.0	46.0					X																	71351947		692	1591	2283	71268672	SO:0001631	upstream_gene_variant	340527			AB082532	CCDS55446.1	Xq13.1	2008-02-05			ENSG00000242732	ENSG00000242732			29430	protein-coding gene	gene with protein product						12056414, 15716091, 16093683	Standard	NM_001024455		Approved	KIAA2001, Mar5, Mart5	uc004eaj.2	Q5HYW3	OTTHUMG00000021808		X.37:g.71351947G>A	Exception_encountered	Somatic		Capture	Illumina HiSeq	Phase_I	71268672	A7E2W7|Q8NCM4|Q9NPX1	Missense_Mutation	SNP	ENST00000545866.1	37	CCDS55446.1	.	.	.	.	.	.	.	.	.	.	g	19.46	3.830839	0.71258	.	.	ENSG00000204131	ENST00000540800	T	0.29397	1.57	5.38	2.32	0.28847	.	.	.	.	.	T	0.12603	0.0306	N	0.08118	0	0.80722	D	1	B	0.15473	0.013	B	0.08055	0.003	T	0.10405	-1.0631	9	0.24483	T	0.36	.	4.1963	0.10445	0.168:0.0:0.5915:0.2406	.	100	F5H593	.	Q	100	ENSP00000444617:R100Q	ENSP00000444617:R100Q	R	+	2	0	NHSL2	71268672	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.369000	0.34227	0.470000	0.27294	0.472000	0.43445	CGG		RGAG4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057171.1	NM_001024455	
IRS4	8471	hgsc.bcm.edu	37	X	107976663	107976663	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chrX:107976663G>A	ENST00000372129.2	-	1	2988	c.2912C>T	c.(2911-2913)cCa>cTa	p.P971L	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	971					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)	p.P971L(2)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GTCGTTTGCTGGATTTGGAAA	0.483																																																	2	Substitution - Missense(2)	ovary(1)|lung(1)	X											152.0	139.0	143.0					X																	107976663		2203	4300	6503	107863319	SO:0001583	missense	8471			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.2912C>T	X.37:g.107976663G>A	ENSP00000361202:p.Pro971Leu	Somatic		Capture	Illumina HiSeq	Phase_I	107863319		Missense_Mutation	SNP	ENST00000372129.2	37	CCDS14544.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.473876	0.26423	.	.	ENSG00000133124	ENST00000372129	T	0.35973	1.28	5.16	4.27	0.50696	.	0.367155	0.25683	N	0.028995	T	0.24586	0.0596	L	0.29908	0.895	0.09310	N	0.999999	B	0.28128	0.201	B	0.22386	0.039	T	0.14448	-1.0472	10	0.42905	T	0.14	-1.6166	9.2734	0.37686	0.0791:0.0:0.7755:0.1454	.	971	O14654	IRS4_HUMAN	L	971	ENSP00000361202:P971L	ENSP00000361202:P971L	P	-	2	0	IRS4	107863319	0.008000	0.16893	0.006000	0.13384	0.194000	0.23727	0.472000	0.22116	1.084000	0.41184	0.600000	0.82982	CCA		IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057879.1	NM_003604	
ZCCHC12	170261	hgsc.bcm.edu	37	X	117959861	117959861	+	Silent	SNP	G	G	A	rs374504390		TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chrX:117959861G>A	ENST00000310164.2	+	4	1161	c.654G>A	c.(652-654)gaG>gaA	p.E218E		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	218					BMP signaling pathway (GO:0030509)|transcription, DNA-templated (GO:0006351)	nuclear speck (GO:0016607)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						TGGTAAGGGAGGAAGAGGATT	0.493																																																	0			X						G		0,3835		0,0,0,1632,571	55.0	51.0	52.0		654	2.4	1.0	X		52	2,6726		0,1,1,2427,1871	no	coding-synonymous	ZCCHC12	NM_173798.2		0,1,1,4059,2442	AA,AG,A,GG,G		0.0297,0.0,0.0189		218/403	117959861	2,10561	2203	4300	6503	117843889	SO:0001819	synonymous_variant	170261			AK122676	CCDS14574.1	Xq24	2013-10-11			ENSG00000174460	ENSG00000174460		"""Zinc fingers, CCHC domain containing"", ""Paraneoplastic Ma antigens"""	27273	protein-coding gene	gene with protein product	"""paraneoplastic Ma antigen family member 7A"""	300701				21739307, 19578717	Standard	NM_173798		Approved	FLJ16123, SIZN, SIZN1, PNMA7A	uc004equ.3	Q6PEW1	OTTHUMG00000022261	ENST00000310164.2:c.654G>A	X.37:g.117959861G>A		Somatic		Capture	Illumina HiSeq	Phase_I	117843889	B3KV48|Q6PID5|Q8N1C1	Silent	SNP	ENST00000310164.2	37	CCDS14574.1																																																																																				ZCCHC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058014.1	NM_173798	
STAG2	10735	hgsc.bcm.edu	37	X	123200091	123200091	+	Silent	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chrX:123200091A>G	ENST00000371160.1	+	22	2453	c.2163A>G	c.(2161-2163)gaA>gaG	p.E721E	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000371144.3_Silent_p.E721E|STAG2_ENST00000371145.3_Silent_p.E721E|STAG2_ENST00000354548.5_Silent_p.E652E|STAG2_ENST00000218089.9_Silent_p.E721E|STAG2_ENST00000371157.3_Silent_p.E721E	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	721					meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CTGGAATCGAAAATGGAGACA	0.279																																																	0			X											95.0	101.0	99.0					X																	123200091		2202	4298	6500	123027772	SO:0001819	synonymous_variant	10735			Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2163A>G	X.37:g.123200091A>G		Somatic		Capture	Illumina HiSeq	Phase_I	123027772	B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Silent	SNP	ENST00000371160.1	37	CCDS14607.1																																																																																				STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603	
ZNF449	203523	hgsc.bcm.edu	37	X	134493889	134493889	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chrX:134493889A>G	ENST00000339249.4	+	4	772	c.632A>G	c.(631-633)cAg>cGg	p.Q211R		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	211					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AAGGAATTACAGGATTCTAAA	0.328																																																	0			X											100.0	97.0	98.0					X																	134493889		2203	4299	6502	134321555	SO:0001583	missense	203523			AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"""-"", ""Zinc fingers, C2H2-type"""	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.632A>G	X.37:g.134493889A>G	ENSP00000339585:p.Gln211Arg	Somatic		Capture	Illumina HiSeq	Phase_I	134321555	Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Missense_Mutation	SNP	ENST00000339249.4	37	CCDS14649.1	.	.	.	.	.	.	.	.	.	.	A	12.97	2.096944	0.37048	.	.	ENSG00000173275	ENST00000339249	T	0.05925	3.37	4.85	4.85	0.62838	.	0.161421	0.29572	N	0.011763	T	0.04770	0.0129	N	0.24115	0.695	0.80722	D	1	B	0.26635	0.155	B	0.25759	0.063	T	0.45556	-0.9253	10	0.14252	T	0.57	.	11.5598	0.50769	1.0:0.0:0.0:0.0	.	211	Q6P9G9	ZN449_HUMAN	R	211	ENSP00000339585:Q211R	ENSP00000339585:Q211R	Q	+	2	0	ZNF449	134321555	0.020000	0.18652	0.963000	0.40424	0.973000	0.67179	1.028000	0.30128	1.932000	0.55993	0.425000	0.28330	CAG		ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695	
SPANXN3	139067	hgsc.bcm.edu	37	X	142596797	142596797	+	Missense_Mutation	SNP	T	T	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chrX:142596797T>A	ENST00000370503.2	-	2	356	c.273A>T	c.(271-273)ttA>ttT	p.L91F	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	91										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					ATCCTTCAGATAAGTCTACGC	0.443																																																	0			X											216.0	178.0	191.0					X																	142596797		2203	4300	6503	142424463	SO:0001583	missense	139067				CCDS35418.1	Xq27.3	2012-06-12			ENSG00000189252	ENSG00000189252			33176	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 8"""	300666				14973187, 17012309	Standard	NM_001009609		Approved	SPANX-N3, CT11.8	uc004fbw.3	Q5MJ09	OTTHUMG00000022582	ENST00000370503.2:c.273A>T	X.37:g.142596797T>A	ENSP00000359534:p.Leu91Phe	Somatic		Capture	Illumina HiSeq	Phase_I	142424463	Q0ZNK4	Missense_Mutation	SNP	ENST00000370503.2	37	CCDS35418.1	.	.	.	.	.	.	.	.	.	.	t	5.648	0.304206	0.10678	.	.	ENSG00000189252	ENST00000370503	T	0.07021	3.23	0.73	-1.46	0.08800	.	.	.	.	.	T	0.03477	0.0100	N	0.08118	0	0.09310	N	1	P	0.37176	0.586	B	0.38378	0.272	T	0.26326	-1.0106	8	0.44086	T	0.13	.	.	.	.	.	91	Q5MJ09	SPXN3_HUMAN	F	91	ENSP00000359534:L91F	ENSP00000359534:L91F	L	-	3	2	SPANXN3	142424463	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-1.853000	0.01666	-1.895000	0.01104	0.227000	0.17789	TTA		SPANXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058620.2	NM_001009609	
SPANXN3	139067	hgsc.bcm.edu	37	X	142596799	142596799	+	Missense_Mutation	SNP	A	A	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chrX:142596799A>T	ENST00000370503.2	-	2	354	c.271T>A	c.(271-273)Tta>Ata	p.L91I	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	91								p.L91I(1)		endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTCAGATAAGTCTACGCCT	0.438																																																	1	Substitution - Missense(1)	ovary(1)	X											218.0	180.0	193.0					X																	142596799		2203	4300	6503	142424465	SO:0001583	missense	139067				CCDS35418.1	Xq27.3	2012-06-12			ENSG00000189252	ENSG00000189252			33176	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 8"""	300666				14973187, 17012309	Standard	NM_001009609		Approved	SPANX-N3, CT11.8	uc004fbw.3	Q5MJ09	OTTHUMG00000022582	ENST00000370503.2:c.271T>A	X.37:g.142596799A>T	ENSP00000359534:p.Leu91Ile	Somatic		Capture	Illumina HiSeq	Phase_I	142424465	Q0ZNK4	Missense_Mutation	SNP	ENST00000370503.2	37	CCDS35418.1	.	.	.	.	.	.	.	.	.	.	a	0.016	-1.512278	0.00984	.	.	ENSG00000189252	ENST00000370503	T	0.05925	3.37	0.73	-1.46	0.08800	.	.	.	.	.	T	0.01353	0.0044	N	0.00926	-1.1	0.09310	N	1	B	0.32396	0.369	B	0.30251	0.113	T	0.27191	-1.0081	8	0.08179	T	0.78	.	.	.	.	.	91	Q5MJ09	SPXN3_HUMAN	I	91	ENSP00000359534:L91I	ENSP00000359534:L91I	L	-	1	2	SPANXN3	142424465	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.189000	0.03061	-2.164000	0.00782	-0.853000	0.03031	TTA		SPANXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058620.2	NM_001009609	
PASD1	139135	hgsc.bcm.edu	37	X	150842517	150842517	+	Silent	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chrX:150842517A>G	ENST00000370357.4	+	15	2279	c.2034A>G	c.(2032-2034)tcA>tcG	p.S678S		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	678						nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.S678S(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CTTCAGACTCAACCATAAGCA	0.498																																																	1	Substitution - coding silent(1)	ovary(1)	X											128.0	115.0	119.0					X																	150842517		2203	4300	6503	150593173	SO:0001819	synonymous_variant	139135			AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.2034A>G	X.37:g.150842517A>G		Somatic		Capture	Illumina HiSeq	Phase_I	150593173	Q3MNE0|Q69HD7|Q8N7X9	Silent	SNP	ENST00000370357.4	37	CCDS35431.1																																																																																				PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493	
SLC10A3	8273	hgsc.bcm.edu	37	X	153716358	153716358	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chrX:153716358G>A	ENST00000393587.4	-	3	1185	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C	SLC10A3_ENST00000393586.1_Missense_Mutation_p.R363C|SLC10A3_ENST00000263512.4_Missense_Mutation_p.R308C|SLC10A3_ENST00000369649.4_Missense_Mutation_p.R279C|UBL4A_ENST00000369660.4_5'Flank|UBL4A_ENST00000477777.1_5'Flank|UBL4A_ENST00000369653.4_5'Flank	NM_001142391.1|NM_001142392.1	NP_001135863.1|NP_001135864.1	P09131	P3_HUMAN	solute carrier family 10, member 3	308					response to retinoic acid (GO:0032526)	integral component of membrane (GO:0016021)	bile acid:sodium symporter activity (GO:0008508)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGAGCAGGCGGCTGTAGATG	0.597																																																	0			X											63.0	63.0	63.0					X																	153716358		2202	4300	6502	153369552	SO:0001583	missense	8273			X12458	CCDS14755.1, CCDS48195.1	Xq28	2013-07-18	2013-07-18		ENSG00000126903	ENSG00000126903		"""Solute carriers"""	22979	protein-coding gene	gene with protein product		312090				8733135	Standard	NM_019848		Approved	P3, DXS253E	uc004flq.3	P09131	OTTHUMG00000013369	ENST00000393587.4:c.922C>T	X.37:g.153716358G>A	ENSP00000377212:p.Arg308Cys	Somatic		Capture	Illumina HiSeq	Phase_I	153369552	Q5HY79|Q9BSL2	Missense_Mutation	SNP	ENST00000393587.4	37	CCDS14755.1	.	.	.	.	.	.	.	.	.	.	G	9.434	1.086212	0.20390	.	.	ENSG00000126903	ENST00000369649;ENST00000393586;ENST00000263512;ENST00000393587	T;T;T;T	0.12255	2.7;2.7;2.7;2.7	5.09	3.29	0.37713	.	0.233463	0.36101	U	0.002782	T	0.34571	0.0902	M	0.89287	3.02	0.32258	N	0.570573	D;D	0.69078	0.997;0.988	P;P	0.59761	0.863;0.863	T	0.50457	-0.8826	10	0.59425	D	0.04	-13.2509	8.0014	0.30299	0.2772:0.0:0.7228:0.0	.	279;308	Q9BSL2;P09131	.;P3_HUMAN	C	279;363;308;308	ENSP00000358663:R279C;ENSP00000377211:R363C;ENSP00000263512:R308C;ENSP00000377212:R308C	ENSP00000263512:R308C	R	-	1	0	SLC10A3	153369552	0.407000	0.25352	0.493000	0.27502	0.145000	0.21501	1.312000	0.33574	0.360000	0.24265	0.600000	0.82982	CGC		SLC10A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000037235.3	NM_019848	
G6PD	2539	hgsc.bcm.edu	37	X	153760262	153760262	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chrX:153760262A>G	ENST00000393564.2	-	13	1613	c.1501T>C	c.(1501-1503)Ttc>Ctc	p.F501L	G6PD_ENST00000369620.2_Missense_Mutation_p.F547L|G6PD_ENST00000393562.2_Missense_Mutation_p.F531L	NM_001042351.1	NP_001035810.1	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	501					carbohydrate metabolic process (GO:0005975)|cellular response to oxidative stress (GO:0034599)|cholesterol biosynthetic process (GO:0006695)|cytokine production (GO:0001816)|erythrocyte maturation (GO:0043249)|glucose 6-phosphate metabolic process (GO:0051156)|glutathione metabolic process (GO:0006749)|lipid metabolic process (GO:0006629)|NADP metabolic process (GO:0006739)|NADPH regeneration (GO:0006740)|negative regulation of protein glutathionylation (GO:0010734)|oxidation-reduction process (GO:0055114)|pentose biosynthetic process (GO:0019322)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, oxidative branch (GO:0009051)|regulation of neuron apoptotic process (GO:0043523)|response to ethanol (GO:0045471)|response to food (GO:0032094)|response to organic cyclic compound (GO:0014070)|ribose phosphate biosynthetic process (GO:0046390)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	glucose binding (GO:0005536)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCATACTGGAAACCCACTCTC	0.672																																																	0			X											64.0	41.0	48.0					X																	153760262		2203	4299	6502	153413456	SO:0001583	missense	8266			X03674	CCDS14756.2, CCDS44023.1	Xq28	2014-09-17			ENSG00000160211	ENSG00000160211	1.1.1.49		4057	protein-coding gene	gene with protein product		305900				3012556, 2428611	Standard	NM_000402		Approved	G6PD1	uc004flx.1	P11413	OTTHUMG00000024237	ENST00000393564.2:c.1501T>C	X.37:g.153760262A>G	ENSP00000377194:p.Phe501Leu	Somatic		Capture	Illumina HiSeq	Phase_I	153413456	D3DWX9|Q16000|Q16765|Q8IU70|Q8IU88|Q8IUA6|Q96PQ2	Missense_Mutation	SNP	ENST00000393564.2	37	CCDS44023.1	.	.	.	.	.	.	.	.	.	.	A	23.7	4.450346	0.84101	.	.	ENSG00000160211	ENST00000393562;ENST00000291567;ENST00000393564;ENST00000369620	D;D;D	0.98178	-4.77;-4.77;-4.77	5.33	5.33	0.75918	Glucose-6-phosphate dehydrogenase, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98620	0.9538	M	0.76433	2.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.976	D	0.99387	1.0924	10	0.62326	D	0.03	.	12.1233	0.53903	1.0:0.0:0.0:0.0	.	501;531	P11413;P11413-3	G6PD_HUMAN;.	L	531;501;501;547	ENSP00000377192:F531L;ENSP00000377194:F501L;ENSP00000358633:F547L	ENSP00000291567:F501L	F	-	1	0	G6PD	153413456	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	8.253000	0.89842	1.766000	0.52107	0.483000	0.47432	TTC		G6PD-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061170.3	NM_000402	
FGFRL1	53834	hgsc.bcm.edu	37	4	1018763	1018763	+	Silent	SNP	C	C	T	rs146112374		TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr4:1018763C>T	ENST00000398484.2	+	8	1723	c.1143C>T	c.(1141-1143)atC>atT	p.I381I	FGFRL1_ENST00000510644.1_Silent_p.I381I|FGFRL1_ENST00000264748.6_Silent_p.I381I|FGFRL1_ENST00000504138.1_Silent_p.I381I|RP11-460I19.2_ENST00000503095.1_lincRNA			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	381					diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CCGTGGTCATCGGCATCCCAG	0.682																																																	0			4							,,	0,4398		0,0,2199	24.0	28.0	27.0		1143,1143,1143	-6.7	0.7	4	dbSNP_134	27	1,8593		0,1,4296	no	coding-synonymous,coding-synonymous,coding-synonymous	FGFRL1	NM_001004356.2,NM_001004358.1,NM_021923.3	,,	0,1,6495	TT,TC,CC		0.0116,0.0,0.0077	,,	381/505,381/505,381/505	1018763	1,12991	2199	4297	6496	1008763	SO:0001819	synonymous_variant	53834				CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1143C>T	4.37:g.1018763C>T		Somatic		Capture	Illumina HiSeq	Phase_I	1008763	B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Silent	SNP	ENST00000398484.2	37	CCDS3344.1																																																																																				FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239195.2	NM_021923	
WHSC1	7468	hgsc.bcm.edu	37	4	1902850	1902850	+	Missense_Mutation	SNP	A	A	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr4:1902850A>T	ENST00000382895.3	+	4	900	c.469A>T	c.(469-471)Aat>Tat	p.N157Y	WHSC1_ENST00000436793.1_Missense_Mutation_p.N157Y|WHSC1_ENST00000503128.1_Missense_Mutation_p.N157Y|WHSC1_ENST00000514045.1_Missense_Mutation_p.N157Y|WHSC1_ENST00000420906.2_Missense_Mutation_p.N157Y|WHSC1_ENST00000508803.1_Missense_Mutation_p.N157Y|WHSC1_ENST00000382892.2_Missense_Mutation_p.N157Y|WHSC1_ENST00000382891.5_Missense_Mutation_p.N157Y|WHSC1_ENST00000398261.1_Missense_Mutation_p.N157Y	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	157					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GTCAGAAGAAAATGGACAAAA	0.438			T	IGH@	MM																																			Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	0			4											67.0	64.0	65.0					4																	1902850		2203	4300	6503	1872648	SO:0001583	missense	7468			AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.469A>T	4.37:g.1902850A>T	ENSP00000372351:p.Asn157Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	1872648	A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	ENST00000382895.3	37	CCDS33940.1	.	.	.	.	.	.	.	.	.	.	A	13.27	2.187421	0.38609	.	.	ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000515806;ENST00000382891;ENST00000382892;ENST00000436793;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000509115;ENST00000398261	D;T;T;D;D;T;T;D;T;T;T	0.95103	-3.61;1.2;0.87;-3.61;-3.61;0.88;1.2;-3.61;1.19;1.2;1.19	4.94	-0.492	0.12041	.	0.543896	0.17644	N	0.166911	D	0.92672	0.7671	L	0.40543	1.245	0.24426	N	0.994594	D;P;P;D;D	0.54047	0.964;0.923;0.874;0.964;0.964	P;P;B;P;P	0.56751	0.805;0.521;0.176;0.805;0.805	D	0.85832	0.1392	10	0.66056	D	0.02	.	5.5807	0.17248	0.639:0.1331:0.2279:0.0	.	157;157;157;157;157	O96028-3;O96028-7;O96028;O96028-5;O96028-6	.;.;NSD2_HUMAN;.;.	Y	157	ENSP00000423972:N157Y;ENSP00000421681:N157Y;ENSP00000427434:N157Y;ENSP00000372347:N157Y;ENSP00000372348:N157Y;ENSP00000416725:N157Y;ENSP00000399251:N157Y;ENSP00000372351:N157Y;ENSP00000425761:N157Y;ENSP00000422878:N157Y;ENSP00000381311:N157Y	ENSP00000308780:N157Y	N	+	1	0	WHSC1	1872648	0.997000	0.39634	0.021000	0.16686	0.991000	0.79684	2.031000	0.41117	-0.208000	0.10171	0.533000	0.62120	AAT		WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366269.2	NM_133330	
ZNF518B	85460	hgsc.bcm.edu	37	4	10446086	10446086	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr4:10446086T>C	ENST00000326756.3	-	3	2305	c.1867A>G	c.(1867-1869)Agg>Ggg	p.R623G		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	623					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TTGTTAGTCCTTTCAGAATTC	0.398																																																	0			4											137.0	138.0	137.0					4																	10446086		2203	4300	6503	10055184	SO:0001583	missense	85460			AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.1867A>G	4.37:g.10446086T>C	ENSP00000317614:p.Arg623Gly	Somatic		Capture	Illumina HiSeq	Phase_I	10055184	Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	T	13.31	2.198735	0.38806	.	.	ENSG00000178163	ENST00000326756	T	0.01527	4.8	6.06	3.64	0.41730	.	0.964866	0.08541	N	0.930553	T	0.01387	0.0045	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.47341	-0.9125	10	0.11485	T	0.65	-8.0171	8.022	0.30415	0.0:0.0699:0.1379:0.7922	.	623	Q9C0D4	Z518B_HUMAN	G	623	ENSP00000317614:R623G	ENSP00000317614:R623G	R	-	1	2	ZNF518B	10055184	0.934000	0.31675	0.002000	0.10522	0.324000	0.28378	2.493000	0.45320	1.096000	0.41439	0.533000	0.62120	AGG		ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042	
RFC1	5981	hgsc.bcm.edu	37	4	39291552	39291552	+	Silent	SNP	C	C	T	rs201096166		TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr4:39291552C>T	ENST00000381897.1	-	24	3412	c.3279G>A	c.(3277-3279)tcG>tcA	p.S1093S	RFC1_ENST00000349703.2_Silent_p.S1092S	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	1093					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)	p.S1093S(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CATTGTATTCCGAATCCAGGG	0.408													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18411	0.0		0.0	False		,,,				2504	0.0				Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)												1	Substitution - coding silent(1)	lung(1)	4											232.0	227.0	229.0					4																	39291552		2203	4300	6503	38967947	SO:0001819	synonymous_variant	6573			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.3279G>A	4.37:g.39291552C>T		Somatic		Capture	Illumina HiSeq	Phase_I	38967947	A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Silent	SNP	ENST00000381897.1	37	CCDS56329.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	0.137	-1.106385	0.01828	.	.	ENSG00000035928	ENST00000514572	.	.	.	5.83	-1.19	0.09585	.	.	.	.	.	T	0.40067	0.1102	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.29518	-1.0009	4	.	.	.	-2.8882	1.5395	0.02552	0.3434:0.2867:0.0819:0.2879	.	.	.	.	R	70	.	.	G	-	1	0	RFC1	38967947	0.369000	0.25039	0.905000	0.35620	0.002000	0.02628	-0.254000	0.08781	0.104000	0.17725	-0.397000	0.06425	GGA		RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913	
AASDH	132949	hgsc.bcm.edu	37	4	57217540	57217540	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr4:57217540C>T	ENST00000205214.6	-	10	1840	c.1660G>A	c.(1660-1662)Gac>Aac	p.D554N	AASDH_ENST00000602986.1_Missense_Mutation_p.D401N|AASDH_ENST00000434343.2_Missense_Mutation_p.D69N|AASDH_ENST00000513376.1_Missense_Mutation_p.D454N|AASDH_ENST00000502617.1_Missense_Mutation_p.D554N|AASDH_ENST00000451613.1_Missense_Mutation_p.D554N	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	554					fatty acid metabolic process (GO:0006631)		acid-thiol ligase activity (GO:0016878)|ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TCCCAAAGGTCCTCTTTCCCA	0.279																																																	0			4											53.0	59.0	57.0					4																	57217540		2199	4273	6472	56912297	SO:0001583	missense	132949			AF516672	CCDS3504.1, CCDS68705.1, CCDS68706.1, CCDS75126.1, CCDS75127.1	4q12	2010-12-14			ENSG00000157426	ENSG00000157426	1.2.1.31	"""Acyl-CoA synthetase family"""	23993	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 4"""	614365				15865210, 12712191, 17762044	Standard	XM_005265721		Approved	NRPS998, LYS2, ACSF4	uc003hbn.3	Q4L235	OTTHUMG00000128841	ENST00000205214.6:c.1660G>A	4.37:g.57217540C>T	ENSP00000205214:p.Asp554Asn	Somatic		Capture	Illumina HiSeq	Phase_I	56912297	A5D8V3|A5PL22|Q63HK2|Q63HR7|Q6IPP8|Q6TFZ6|Q7Z5Y3|Q96BW4|Q9P064	Missense_Mutation	SNP	ENST00000205214.6	37	CCDS3504.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049041	0.55110	.	.	ENSG00000157426	ENST00000205214;ENST00000513376;ENST00000434343;ENST00000451613;ENST00000503808;ENST00000502617	T;T;T;T;T	0.65549	-0.16;-0.02;2.11;0.43;0.43	5.35	3.49	0.39957	Acyl carrier protein-like (1);	0.557597	0.21936	N	0.066942	T	0.46737	0.1408	N	0.14661	0.345	0.31572	N	0.656161	B;B;B;B	0.21821	0.061;0.045;0.045;0.012	B;B;B;B	0.20767	0.027;0.031;0.019;0.004	T	0.55198	-0.8178	10	0.54805	T	0.06	-9.1322	15.6361	0.76953	0.0:0.7409:0.2591:0.0	.	401;554;554;554	E9PH98;Q4L235-4;Q4L235-3;Q4L235	.;.;.;ACSF4_HUMAN	N	554;454;69;554;401;554	ENSP00000205214:D554N;ENSP00000423760:D454N;ENSP00000392158:D69N;ENSP00000409656:D554N;ENSP00000421171:D554N	ENSP00000205214:D554N	D	-	1	0	AASDH	56912297	0.995000	0.38212	1.000000	0.80357	0.977000	0.68977	2.959000	0.49153	1.385000	0.46445	0.591000	0.81541	GAC		AASDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250780.1	NM_181806	
NAAA	27163	hgsc.bcm.edu	37	4	76841113	76841113	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr4:76841113C>A	ENST00000286733.4	-	8	1019	c.918G>T	c.(916-918)aaG>aaT	p.K306N	NAAA_ENST00000399497.3_Missense_Mutation_p.K306N|NAAA_ENST00000507956.1_Missense_Mutation_p.K306N|NAAA_ENST00000505594.1_Missense_Mutation_p.K205N|NAAA_ENST00000511606.1_5'UTR	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	306					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						CATTAAGGGCCTTGATGGCAG	0.473																																																	0			4											170.0	175.0	173.0					4																	76841113		2007	4168	6175	77060137	SO:0001583	missense	27163			M92449	CCDS43239.1	4q21.1	2011-09-23	2008-04-24	2008-04-24	ENSG00000138744	ENSG00000138744	3.5.1.-		736	protein-coding gene	gene with protein product		607469	"""N-acylsphingosine amidohydrolase (acid ceramidase)-like"""	ASAHL		10610717, 1446826	Standard	NM_001042402		Approved		uc003hjb.3	Q02083	OTTHUMG00000160855	ENST00000286733.4:c.918G>T	4.37:g.76841113C>A	ENSP00000286733:p.Lys306Asn	Somatic		Capture	Illumina HiSeq	Phase_I	77060137	Q5KTF2|Q96EY2|Q9BRA8	Missense_Mutation	SNP	ENST00000286733.4	37	CCDS43239.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.41|16.41	3.115620|3.115620	0.56505|0.56505	.|.	.|.	ENSG00000138744|ENSG00000138744	ENST00000513045|ENST00000399497;ENST00000286733;ENST00000507956;ENST00000505594	.|T;T;T;T	.|0.80123	.|-0.47;-0.32;-0.47;-1.34	5.59|5.59	3.27|3.27	0.37495|0.37495	.|.	.|0.264908	.|0.41938	.|D	.|0.000796	T|T	0.79341|0.79341	0.4429|0.4429	L|L	0.60957|0.60957	1.885|1.885	0.43417|0.43417	D|D	0.995563|0.995563	.|P;P	.|0.49635	.|0.875;0.926	.|P;P	.|0.52646	.|0.46;0.705	T|T	0.74794|0.74794	-0.3544|-0.3544	5|10	.|0.30854	.|T	.|0.27	-18.4115|-18.4115	4.8694|4.8694	0.13625|0.13625	0.0:0.3866:0.0:0.6133|0.0:0.3866:0.0:0.6133	.|.	.|205;306	.|B4DVL2;Q02083	.|.;NAAA_HUMAN	C|N	111|306;306;306;205	.|ENSP00000382420:K306N;ENSP00000286733:K306N;ENSP00000427641:K306N;ENSP00000426977:K205N	.|ENSP00000286733:K306N	G|K	-|-	1|3	0|2	NAAA|NAAA	77060137|77060137	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.618000|0.618000	0.37518|0.37518	1.656000|1.656000	0.37355|0.37355	0.967000|0.967000	0.38186|0.38186	-0.302000|-0.302000	0.09304|0.09304	GGC|AAG		NAAA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362843.4		
WDFY3	23001	hgsc.bcm.edu	37	4	85626556	85626556	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr4:85626556C>T	ENST00000295888.4	-	54	8733	c.8326G>A	c.(8326-8328)Gat>Aat	p.D2776N	WDFY3_ENST00000322366.6_Missense_Mutation_p.D2759N	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2776	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026}.|Interaction with SQSTM1.|Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CCATTAGGATCCTCCCAGTCT	0.408																																																	0			4											224.0	198.0	207.0					4																	85626556		2203	4300	6503	85845580	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.8326G>A	4.37:g.85626556C>T	ENSP00000295888:p.Asp2776Asn	Somatic		Capture	Illumina HiSeq	Phase_I	85845580	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	32	5.118524	0.94385	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.64438	-0.1;-0.1;-0.1	5.64	5.64	0.86602	BEACH domain (4);	0.000000	0.85682	D	0.000000	T	0.79770	0.4503	M	0.72353	2.195	0.80722	D	1	D	0.69078	0.997	D	0.76575	0.988	T	0.80209	-0.1477	10	0.87932	D	0	.	19.8946	0.96949	0.0:1.0:0.0:0.0	.	2776	Q8IZQ1	WDFY3_HUMAN	N	2759;2776;379	ENSP00000318466:D2759N;ENSP00000295888:D2776N;ENSP00000424987:D379N	ENSP00000295888:D2776N	D	-	1	0	WDFY3	85845580	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.564000	0.82326	2.937000	0.99478	0.650000	0.86243	GAT		WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991	
CENPE	1062	hgsc.bcm.edu	37	4	104065688	104065688	+	Silent	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr4:104065688A>G	ENST00000265148.3	-	33	5034	c.4945T>C	c.(4945-4947)Ttg>Ctg	p.L1649L	CENPE_ENST00000380026.3_Silent_p.L1624L	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1649					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)	p.L1649L(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGCTCCTTCAAGTGTTCTATT	0.343																																																	1	Substitution - coding silent(1)	ovary(1)	4											118.0	113.0	115.0					4																	104065688		2203	4299	6502	104285137	SO:0001819	synonymous_variant	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.4945T>C	4.37:g.104065688A>G		Somatic		Capture	Illumina HiSeq	Phase_I	104285137	A6NKY9|A8K2U7|Q4LE75	Silent	SNP	ENST00000265148.3	37	CCDS34042.1																																																																																				CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			
TRAM1L1	133022	hgsc.bcm.edu	37	4	118005715	118005715	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr4:118005715A>G	ENST00000310754.4	-	1	1021	c.835T>C	c.(835-837)Tcg>Ccg	p.S279P		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	279	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						CGATTCTGCGATCCAGCCAGG	0.458																																																	0			4											82.0	74.0	77.0					4																	118005715		2203	4300	6503	118225163	SO:0001583	missense	133022			AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.835T>C	4.37:g.118005715A>G	ENSP00000309402:p.Ser279Pro	Somatic		Capture	Illumina HiSeq	Phase_I	118225163	Q8N2L7	Missense_Mutation	SNP	ENST00000310754.4	37	CCDS3707.1	.	.	.	.	.	.	.	.	.	.	A	10.31	1.314349	0.23908	.	.	ENSG00000174599	ENST00000310754	D	0.84873	-1.91	3.37	1.29	0.21616	TRAM/LAG1/CLN8 homology domain (3);	0.875430	0.09906	N	0.740465	T	0.80844	0.4701	N	0.24115	0.695	0.09310	N	1	B	0.32071	0.355	B	0.43838	0.433	T	0.71213	-0.4659	10	0.46703	T	0.11	-20.573	9.2283	0.37421	0.4738:0.5262:0.0:0.0	.	279	Q8N609	TR1L1_HUMAN	P	279	ENSP00000309402:S279P	ENSP00000309402:S279P	S	-	1	0	TRAM1L1	118225163	0.003000	0.15002	0.000000	0.03702	0.430000	0.31655	0.534000	0.23098	0.301000	0.22738	0.528000	0.53228	TCG		TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402	
FAT4	79633	hgsc.bcm.edu	37	4	126238184	126238184	+	Silent	SNP	C	C	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr4:126238184C>A	ENST00000394329.3	+	1	631	c.618C>A	c.(616-618)ggC>ggA	p.G206G		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	206	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGTCCAAGGGCGGACTGGACC	0.637											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			4											43.0	50.0	48.0					4																	126238184		2100	4225	6325	126457634	SO:0001819	synonymous_variant	79633			AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.618C>A	4.37:g.126238184C>A		Somatic	1548	Capture	Illumina HiSeq	Phase_I	126457634	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																				FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582	
ARHGAP10	79658	hgsc.bcm.edu	37	4	148800446	148800446	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr4:148800446A>G	ENST00000336498.3	+	9	1135	c.896A>G	c.(895-897)aAg>aGg	p.K299R	ARHGAP10_ENST00000414545.2_5'Flank	NM_024605.3	NP_078881.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 10	0					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GCAGCAAAGAAGTTCAACATG	0.393																																																	0			4											154.0	146.0	149.0					4																	148800446		2203	4300	6503	149019896	SO:0001583	missense	79658			BC047914	CCDS34075.1	4q31.23	2013-09-20			ENSG00000071205	ENSG00000071205		"""Rho GTPase activating proteins"""	26099	protein-coding gene	gene with protein product		609746				8288572	Standard	NM_024605		Approved	FLJ20896, FLJ41791, GRAF2	uc003ilf.3	A1A4S6	OTTHUMG00000161460	ENST00000336498.3:c.896A>G	4.37:g.148800446A>G	ENSP00000336923:p.Lys299Arg	Somatic		Capture	Illumina HiSeq	Phase_I	149019896	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	ENST00000336498.3	37	CCDS34075.1	.	.	.	.	.	.	.	.	.	.	A	8.749	0.920871	0.17982	.	.	ENSG00000071205	ENST00000336498	T	0.42513	0.97	5.1	3.86	0.44501	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.228786	0.47455	N	0.000240	T	0.25680	0.0625	L	0.31065	0.9	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.06698	-1.0812	10	0.18710	T	0.47	.	5.7181	0.17972	0.7384:0.1637:0.0979:0.0	.	299	A1A4S6	RHG10_HUMAN	R	299	ENSP00000336923:K299R	ENSP00000336923:K299R	K	+	2	0	ARHGAP10	149019896	0.995000	0.38212	0.999000	0.59377	0.990000	0.78478	1.641000	0.37197	0.716000	0.32124	0.459000	0.35465	AAG		ARHGAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365005.1	NM_024605	
FBXW7	55294	hgsc.bcm.edu	37	4	153244078	153244078	+	Silent	SNP	T	T	C			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr4:153244078T>C	ENST00000281708.4	-	12	3308	c.2079A>G	c.(2077-2079)gaA>gaG	p.E693E	FBXW7_ENST00000263981.5_Silent_p.E613E|FBXW7_ENST00000393956.3_Silent_p.E517E|RP11-461L13.3_ENST00000603766.1_lincRNA|FBXW7_ENST00000296555.5_Silent_p.E575E|FBXW7_ENST00000603548.1_Silent_p.E693E|FBXW7_ENST00000603841.1_Silent_p.E693E	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	693					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GCTTGGTTTCTTCAGTCCCAT	0.502			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	4											163.0	159.0	160.0					4																	153244078		2203	4300	6503	153463528	SO:0001819	synonymous_variant	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.2079A>G	4.37:g.153244078T>C		Somatic		Capture	Illumina HiSeq	Phase_I	153463528	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Silent	SNP	ENST00000281708.4	37	CCDS3777.1																																																																																				FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1		
GUCY1A3	2982	hgsc.bcm.edu	37	4	156638344	156638344	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr4:156638344G>T	ENST00000296518.7	+	8	1815	c.1606G>T	c.(1606-1608)Ggg>Tgg	p.G536W	GUCY1A3_ENST00000506455.1_Missense_Mutation_p.G536W|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.G536W|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.G536W|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.G536W|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.G536W|GUCY1A3_ENST00000393832.3_Missense_Mutation_p.G278W			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	536	Guanylate cyclase. {ECO:0000255|PROSITE- ProRule:PRU00099}.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|nitric oxide mediated signal transduction (GO:0007263)|positive regulation of cGMP biosynthetic process (GO:0030828)|regulation of blood pressure (GO:0008217)|relaxation of vascular smooth muscle (GO:0060087)|response to defense-related host nitric oxide production (GO:0052565)	guanylate cyclase complex, soluble (GO:0008074)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)|receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TTGTGTAGCTGGGGGATTACA	0.438																																																	0			4											157.0	148.0	151.0					4																	156638344		2203	4300	6503	156857794	SO:0001583	missense	2982				CCDS34085.1, CCDS54812.1	4q31.3-q33	2008-03-18				ENSG00000164116	4.6.1.2		4685	protein-coding gene	gene with protein product		139396		GUC1A3		1352257	Standard	NM_001130687		Approved	GC-SA3	uc003iow.3	Q02108		ENST00000296518.7:c.1606G>T	4.37:g.156638344G>T	ENSP00000296518:p.Gly536Trp	Somatic		Capture	Illumina HiSeq	Phase_I	156857794	D3DP19|D6RDW3|O43843|Q8TAH3	Missense_Mutation	SNP	ENST00000296518.7	37	CCDS34085.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.015415	0.93404	.	.	ENSG00000164116	ENST00000506455;ENST00000511108;ENST00000511507;ENST00000455639;ENST00000393832;ENST00000296518;ENST00000513574	D;D;D;D;D;D;D	0.84146	-1.81;-1.81;-1.81;-1.81;-1.81;-1.81;-1.81	5.64	5.64	0.86602	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.64402	D	0.000006	D	0.95322	0.8482	H	0.96175	3.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.96360	0.9265	10	0.87932	D	0	.	19.6996	0.96048	0.0:0.0:1.0:0.0	.	536;536	B3KU69;Q02108	.;GCYA3_HUMAN	W	536;536;536;536;278;536;536	ENSP00000424361:G536W;ENSP00000421493:G536W;ENSP00000426968:G536W;ENSP00000412201:G536W;ENSP00000377418:G278W;ENSP00000296518:G536W;ENSP00000426040:G536W	ENSP00000296518:G536W	G	+	1	0	GUCY1A3	156857794	1.000000	0.71417	0.993000	0.49108	0.983000	0.72400	9.835000	0.99442	2.646000	0.89796	0.655000	0.94253	GGG		GUCY1A3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365786.2		
ALLC	55821	hgsc.bcm.edu	37	2	3745027	3745027	+	Silent	SNP	T	T	C			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr2:3745027T>C	ENST00000252505.3	+	10	993	c.831T>C	c.(829-831)atT>atC	p.I277I	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	296					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GAATTGAAATTGACACAAAAT	0.388										HNSCC(21;0.051)																																							0			2											127.0	122.0	124.0					2																	3745027		1836	4088	5924	3722902	SO:0001819	synonymous_variant	55821			AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.831T>C	2.37:g.3745027T>C		Somatic		Capture	Illumina HiSeq	Phase_I	3722902	Q53T95|Q5RL81|Q96RE6|Q9NZA7	Silent	SNP	ENST00000252505.3	37	CCDS46223.1																																																																																				ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322855.1		
PLEKHH2	130271	hgsc.bcm.edu	37	2	43939418	43939418	+	Missense_Mutation	SNP	G	G	C			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr2:43939418G>C	ENST00000282406.4	+	15	2466	c.2356G>C	c.(2356-2358)Gaa>Caa	p.E786Q		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	786	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CAATATATTGGAAGAGTGGAT	0.428																																																	0			2											143.0	132.0	135.0					2																	43939418		2203	4300	6503	43792922	SO:0001583	missense	130271			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.2356G>C	2.37:g.43939418G>C	ENSP00000282406:p.Glu786Gln	Somatic		Capture	Illumina HiSeq	Phase_I	43792922	Q5JPJ6|Q6P4Q1|Q8N3Q3	Missense_Mutation	SNP	ENST00000282406.4	37	CCDS1812.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656763	0.88154	.	.	ENSG00000152527	ENST00000282406	T	0.76186	-1.0	4.93	4.93	0.64822	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.106321	0.64402	D	0.000007	T	0.78071	0.4226	L	0.48174	1.505	0.58432	D	0.999997	P;D	0.53619	0.504;0.961	B;P	0.52159	0.401;0.691	T	0.81152	-0.1063	10	0.72032	D	0.01	-7.8798	18.1513	0.89675	0.0:0.0:1.0:0.0	.	786;223	Q8IVE3;Q8IVE3-2	PKHH2_HUMAN;.	Q	786	ENSP00000282406:E786Q	ENSP00000282406:E786Q	E	+	1	0	PLEKHH2	43792922	1.000000	0.71417	0.998000	0.56505	0.876000	0.50452	9.340000	0.97038	2.275000	0.75901	0.460000	0.39030	GAA		PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250537.1	NM_172069	
PSME4	23198	hgsc.bcm.edu	37	2	54128521	54128521	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr2:54128521T>C	ENST00000404125.1	-	28	3306	c.3251A>G	c.(3250-3252)cAt>cGt	p.H1084R	PSME4_ENST00000421748.2_Missense_Mutation_p.H228R	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1084					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)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein polyubiquitination (GO:0000209)|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)|spermatogenesis, exchange of chromosomal proteins (GO:0035093)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)|spermatoproteasome complex (GO:1990111)	lysine-acetylated histone binding (GO:0070577)|peptidase activator activity (GO:0016504)			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ATACTGCCTATGAATCTTTTC	0.388																																																	0			2											107.0	97.0	101.0					2																	54128521		2203	4300	6503	53982025	SO:0001583	missense	23198			D38521	CCDS33197.2	2p16.1	2003-04-14			ENSG00000068878	ENSG00000068878		"""Proteasome (prosome, macropain) subunits"""	20635	protein-coding gene	gene with protein product		607705				7584044, 12093752	Standard	NM_014614		Approved	PA200, KIAA0077	uc002rxp.2	Q14997	OTTHUMG00000151852	ENST00000404125.1:c.3251A>G	2.37:g.54128521T>C	ENSP00000384211:p.His1084Arg	Somatic		Capture	Illumina HiSeq	Phase_I	53982025	Q1XBG4|Q1XBG5|Q1XBG6|Q2M1Z0|Q6IPR2|Q86XF8	Missense_Mutation	SNP	ENST00000404125.1	37	CCDS33197.2	.	.	.	.	.	.	.	.	.	.	T	19.20	3.781043	0.70222	.	.	ENSG00000068878	ENST00000421748;ENST00000404125	T;T	0.23147	1.92;1.93	5.6	5.6	0.85130	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.35885	0.0947	M	0.62723	1.935	0.80722	D	1	P;P;P	0.49090	0.919;0.804;0.794	P;B;B	0.48677	0.586;0.288;0.102	T	0.06607	-1.0817	10	0.25106	T	0.35	.	15.7852	0.78297	0.0:0.0:0.0:1.0	.	459;228;1084	Q14997-2;Q14997-3;Q14997	.;.;PSME4_HUMAN	R	228;1084	ENSP00000410830:H228R;ENSP00000384211:H1084R	ENSP00000384211:H1084R	H	-	2	0	PSME4	53982025	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	2.128000	0.65567	0.455000	0.32223	CAT		PSME4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324163.1	XM_040158	
SPTBN1	6711	hgsc.bcm.edu	37	2	54839316	54839316	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr2:54839316C>T	ENST00000356805.4	+	4	600	c.319C>T	c.(319-321)Cga>Tga	p.R107*	SPTBN1_ENST00000333896.5_Nonsense_Mutation_p.R94*	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	107	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)	p.R107*(1)		NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CACCAAGGGACGAATGCGCAT	0.517																																																	1	Substitution - Nonsense(1)	breast(1)	2											111.0	103.0	106.0					2																	54839316		2203	4300	6503	54692820	SO:0001587	stop_gained	6711				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.319C>T	2.37:g.54839316C>T	ENSP00000349259:p.Arg107*	Somatic		Capture	Illumina HiSeq	Phase_I	54692820	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Nonsense_Mutation	SNP	ENST00000356805.4	37	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	C	39	7.426318	0.98275	.	.	ENSG00000115306	ENST00000356805;ENST00000389980;ENST00000333896	.	.	.	5.33	3.19	0.36642	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.8598	0.52459	0.5838:0.4162:0.0:0.0	.	.	.	.	X	107;107;94	.	ENSP00000334156:R94X	R	+	1	2	SPTBN1	54692820	0.996000	0.38824	0.428000	0.26697	0.962000	0.63368	3.440000	0.52886	1.324000	0.45282	0.561000	0.74099	CGA		SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3		
TET3	200424	hgsc.bcm.edu	37	2	74275179	74275179	+	Missense_Mutation	SNP	G	G	A	rs57955681	byFrequency	TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr2:74275179G>A	ENST00000409262.3	+	1	1730	c.1730G>A	c.(1729-1731)cGg>cAg	p.R577Q		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	577			R -> Q (in dbSNP:rs57955681).		DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GAGCTCATCCGGCAGTTTGAG	0.602													G|||	14	0.00279553	0.0106	0.0	5008	,	,		17424	0.0		0.0	False		,,,				2504	0.0																0			2						G	GLN/ARG	21,3813		0,21,1896	41.0	46.0	44.0		1730	3.4	1.0	2	dbSNP_129	44	0,8238		0,0,4119	yes	missense	TET3	NM_144993.1	43	0,21,6015	AA,AG,GG		0.0,0.5477,0.174	probably-damaging	577/1661	74275179	21,12051	1917	4119	6036	74128687	SO:0001583	missense	200424				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.1730G>A	2.37:g.74275179G>A	ENSP00000386869:p.Arg577Gln	Somatic		Capture	Illumina HiSeq	Phase_I	74128687	A6NEI3|Q86Z24|Q8TBM9	Missense_Mutation	SNP	ENST00000409262.3	37	CCDS46339.1	6	0.0027472527472527475	6	0.012195121951219513	0	0.0	0	0.0	0	0.0	G	11.50	1.656276	0.29425	0.005477	0.0	ENSG00000187605	ENST00000305799;ENST00000409262;ENST00000233310	T;T	0.26810	1.71;2.65	5.38	3.44	0.39384	.	.	.	.	.	T	0.09024	0.0223	N	0.17082	0.46	0.33426	D	0.580472	B	0.25312	0.123	B	0.10450	0.005	T	0.18209	-1.0344	9	0.13470	T	0.59	.	8.3192	0.32119	0.2359:0.0:0.7641:0.0	rs57955681	577	O43151	TET3_HUMAN	Q	619;577;577	ENSP00000307803:R619Q;ENSP00000386869:R577Q	ENSP00000233310:R577Q	R	+	2	0	TET3	74128687	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.773000	0.62331	1.500000	0.48636	0.655000	0.94253	CGG		TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328141.4		
CHST10	9486	hgsc.bcm.edu	37	2	101014521	101014521	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr2:101014521G>T	ENST00000264249.3	-	5	661	c.276C>A	c.(274-276)tgC>tgA	p.C92*	CHST10_ENST00000409701.1_Nonsense_Mutation_p.C92*|CHST10_ENST00000542617.1_Nonsense_Mutation_p.C140*	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	92					carbohydrate biosynthetic process (GO:0016051)|cell adhesion (GO:0007155)|learning (GO:0007612)|long-term memory (GO:0007616)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	HNK-1 sulfotransferase activity (GO:0016232)|sulfotransferase activity (GO:0008146)	p.C92*(1)		breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						CATCATCCCTGCAGACGTTTC	0.527																																																	1	Substitution - Nonsense(1)	ovary(1)	2											138.0	140.0	139.0					2																	101014521		2203	4300	6503	100380953	SO:0001587	stop_gained	9486			BC010441	CCDS2047.1	2q11.2	2008-02-05			ENSG00000115526	ENSG00000115526		"""Sulfotransferases, membrane-bound"""	19650	protein-coding gene	gene with protein product		606376				12080076	Standard	NM_004854		Approved	HNK-1ST	uc002tam.3	O43529	OTTHUMG00000130669	ENST00000264249.3:c.276C>A	2.37:g.101014521G>T	ENSP00000264249:p.Cys92*	Somatic		Capture	Illumina HiSeq	Phase_I	100380953	Q53T18	Nonsense_Mutation	SNP	ENST00000264249.3	37	CCDS2047.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861171	0.91433	.	.	ENSG00000115526	ENST00000264249;ENST00000542617;ENST00000409701;ENST00000409046;ENST00000420858;ENST00000448989	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-34.8109	19.5919	0.95518	0.0:0.0:1.0:0.0	.	.	.	.	X	92;140;92;92;92;140	.	ENSP00000264249:C92X	C	-	3	2	CHST10	100380953	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	6.343000	0.72986	2.628000	0.89032	0.655000	0.94253	TGC		CHST10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253162.1	NM_004854	
IMP4	92856	hgsc.bcm.edu	37	2	131103401	131103401	+	Silent	SNP	G	G	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr2:131103401G>A	ENST00000259239.3	+	6	1197	c.489G>A	c.(487-489)acG>acA	p.T163T	IMP4_ENST00000409935.1_Silent_p.T163T	NM_033416.1	NP_219484.1	Q96G21	IMP4_HUMAN	IMP4, U3 small nucleolar ribonucleoprotein	163	Brix. {ECO:0000255|PROSITE- ProRule:PRU00034}.				rRNA processing (GO:0006364)	nucleolus (GO:0005730)|ribonucleoprotein complex (GO:0030529)				central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	18	Colorectal(110;0.1)					CCTACTTCACGCTGTGCAATG	0.637																																																	0			2											101.0	93.0	95.0					2																	131103401		2203	4300	6503	130819871	SO:0001819	synonymous_variant	92856			BC010042	CCDS2160.1	2q21.1	2014-02-19	2014-02-19		ENSG00000136718	ENSG00000136718			30856	protein-coding gene	gene with protein product		612981	"""IMP4, U3 small nucleolar ribonucleoprotein, homolog (yeast)"""			8619474, 9110174, 12655004	Standard	NM_033416		Approved	MGC19606, BXDC4	uc002tra.1	Q96G21	OTTHUMG00000131627	ENST00000259239.3:c.489G>A	2.37:g.131103401G>A		Somatic		Capture	Illumina HiSeq	Phase_I	130819871	Q3ZTT3	Silent	SNP	ENST00000259239.3	37	CCDS2160.1	.	.	.	.	.	.	.	.	.	.	G	6.563	0.472158	0.12461	.	.	ENSG00000136718	ENST00000452955	.	.	.	5.18	-10.4	0.00318	.	.	.	.	.	T	0.40743	0.1129	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.52419	-0.8578	4	.	.	.	-26.3252	4.5027	0.11872	0.2533:0.3327:0.3318:0.0822	.	.	.	.	H	152	.	.	R	+	2	0	IMP4	130819871	0.000000	0.05858	0.063000	0.19743	0.904000	0.53231	-3.140000	0.00586	-3.647000	0.00127	-1.785000	0.00643	CGC		IMP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254520.2	NM_033416	
NR4A2	4929	hgsc.bcm.edu	37	2	157186268	157186268	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr2:157186268T>C	ENST00000339562.4	-	3	793	c.431A>G	c.(430-432)gAc>gGc	p.D144G	NR4A2_ENST00000426264.1_Missense_Mutation_p.D81G|NR4A2_ENST00000539077.1_Missense_Mutation_p.D155G|NR4A2_ENST00000409572.1_Missense_Mutation_p.D144G|NR4A2_ENST00000429376.1_Missense_Mutation_p.D81G|NR4A2_ENST00000409108.2_Missense_Mutation_p.D144G	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	144	Pro-rich.				adult locomotory behavior (GO:0008344)|cellular response to extracellular stimulus (GO:0031668)|cellular response to oxidative stress (GO:0034599)|central nervous system projection neuron axonogenesis (GO:0021952)|death (GO:0016265)|dopamine biosynthetic process (GO:0042416)|dopaminergic neuron differentiation (GO:0071542)|gene expression (GO:0010467)|general adaptation syndrome (GO:0051866)|habenula development (GO:0021986)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of neuron apoptotic process (GO:0043524)|neuron maturation (GO:0042551)|neuron migration (GO:0001764)|positive regulation of catalytic activity (GO:0043085)|post-embryonic development (GO:0009791)|regulation of dopamine metabolic process (GO:0042053)|regulation of respiratory gaseous exchange (GO:0043576)|response to amphetamine (GO:0001975)|response to hypoxia (GO:0001666)|response to inorganic substance (GO:0010035)|response to insecticide (GO:0017085)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						TCCCGGGTCGTCCCACATGGG	0.632																																																	0			2											74.0	87.0	82.0					2																	157186268		2203	4300	6503	156894514	SO:0001583	missense	4929			X75918	CCDS2201.1	2q22-q23	2013-01-16			ENSG00000153234	ENSG00000153234		"""Nuclear hormone receptors"""	7981	protein-coding gene	gene with protein product		601828		NURR1		7706727	Standard	NM_006186		Approved	TINUR, NOT, RNR1, HZF-3	uc002tyz.4	P43354	OTTHUMG00000131950	ENST00000339562.4:c.431A>G	2.37:g.157186268T>C	ENSP00000344479:p.Asp144Gly	Somatic		Capture	Illumina HiSeq	Phase_I	156894514	Q16311|Q53RZ2|Q6NXU0	Missense_Mutation	SNP	ENST00000339562.4	37	CCDS2201.1	.	.	.	.	.	.	.	.	.	.	T	19.36	3.813424	0.70912	.	.	ENSG00000153234	ENST00000339562;ENST00000426264;ENST00000409572;ENST00000539077;ENST00000409108;ENST00000429376;ENST00000424077;ENST00000421709	D;D;D;D;D;D;D;D	0.94046	-2.98;-3.17;-2.98;-2.99;-3.23;-3.34;-1.87;-2.59	6.07	6.07	0.98685	.	2.065020	0.01923	N	0.040623	D	0.94788	0.8317	L	0.34521	1.04	0.80722	D	1	P	0.49862	0.929	P	0.54431	0.752	T	0.82621	-0.0367	10	0.48119	T	0.1	.	16.6288	0.85011	0.0:0.0:0.0:1.0	.	144	P43354	NR4A2_HUMAN	G	144;81;144;155;144;81;144;81	ENSP00000344479:D144G;ENSP00000389986:D81G;ENSP00000386747:D144G;ENSP00000444925:D155G;ENSP00000386993:D144G;ENSP00000410952:D81G;ENSP00000406808:D144G;ENSP00000388120:D81G	ENSP00000344479:D144G	D	-	2	0	NR4A2	156894514	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.326000	0.78906	0.533000	0.62120	GAC		NR4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254909.2		
CIR1	9541	hgsc.bcm.edu	37	2	175213554	175213554	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr2:175213554C>T	ENST00000342016.3	-	10	1116	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	CIR1_ENST00000362053.5_3'UTR	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	342	Lys/Ser-rich.				mRNA processing (GO:0006397)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)	p.E342*(1)		central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						CTAGAACTCTCGTGTTTTAAG	0.438																																																	1	Substitution - Nonsense(1)	large_intestine(1)	2											160.0	160.0	160.0					2																	175213554		2203	4300	6503	174921800	SO:0001583	missense	7335			AF098297	CCDS2256.1	2q31.1	2009-07-14			ENSG00000138433	ENSG00000138433			24217	protein-coding gene	gene with protein product	"""recepin"", ""CBF1 interacting corepressor"""	605228				15652350, 11222720, 9874765	Standard	NM_004882		Approved	CIR	uc002uim.3	Q86X95	OTTHUMG00000132338	ENST00000342016.3:c.1024G>A	2.37:g.175213554C>T	ENSP00000339723:p.Glu342Lys	Somatic		Capture	Illumina HiSeq	Phase_I	174921800	A6NFI6|A8K8M4|O95367|Q12804|Q4G1B9|Q6PJI4|Q8IWI2	Missense_Mutation	SNP	ENST00000342016.3	37	CCDS2256.1	.	.	.	.	.	.	.	.	.	.	C	15.51	2.855513	0.51376	.	.	ENSG00000138433	ENST00000342016	.	.	.	6.16	6.16	0.99307	.	0.277370	0.34531	N	0.003885	T	0.61949	0.2388	L	0.56769	1.78	0.37544	D	0.918435	D;D	0.56521	0.976;0.957	P;B	0.46275	0.51;0.198	T	0.66272	-0.5965	9	0.48119	T	0.1	.	18.648	0.91418	0.0:1.0:0.0:0.0	.	342;342	A0PJI7;Q86X95	.;CIR1_HUMAN	K	342	.	ENSP00000339723:E342K	E	-	1	0	CIR1	174921800	1.000000	0.71417	0.428000	0.26697	0.024000	0.10985	3.879000	0.56138	2.937000	0.99478	0.650000	0.86243	GAG		CIR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255460.1	NM_004882	
CHRNA1	1134	hgsc.bcm.edu	37	2	175618347	175618347	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr2:175618347A>G	ENST00000261007.5	-	7	803	c.737T>C	c.(736-738)aTc>aCc	p.I246T	CHRNA1_ENST00000409542.1_Missense_Mutation_p.I139T|CHRNA1_ENST00000409323.1_Missense_Mutation_p.I221T|CHRNA1_ENST00000409219.1_Missense_Mutation_p.I221T|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000348749.5_Missense_Mutation_p.I221T	NM_001039523.2	NP_001034612.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	246					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|muscle cell cellular homeostasis (GO:0046716)|musculoskeletal movement (GO:0050881)|neuromuscular junction development (GO:0007528)|neuromuscular process (GO:0050905)|neuromuscular synaptic transmission (GO:0007274)|neuron cellular homeostasis (GO:0070050)|neuronal action potential (GO:0019228)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|skeletal muscle contraction (GO:0003009)|skeletal muscle tissue growth (GO:0048630)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cell surface (GO:0009986)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ion channel activity (GO:0005216)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37					Galantamine(DB00674)	GTGGTAGGTGATGTCCAGGTA	0.577																																																	0			2											177.0	163.0	168.0					2																	175618347		2203	4300	6503	175326593	SO:0001583	missense	1134			Y00762	CCDS2261.1, CCDS33331.1	2q31.1	2012-02-11	2006-02-01		ENSG00000138435	ENSG00000138435		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1955	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 1 (muscle)"""	100690	"""cholinergic receptor, nicotinic, alpha polypeptide 1 (muscle)"""	CHRNA			Standard	NM_001039523		Approved		uc002uje.2	P02708	OTTHUMG00000132357	ENST00000261007.5:c.737T>C	2.37:g.175618347A>G	ENSP00000261007:p.Ile246Thr	Somatic		Capture	Illumina HiSeq	Phase_I	175326593	B4DRV6|D3DPE8	Missense_Mutation	SNP	ENST00000261007.5	37	CCDS33331.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.752979	0.69648	.	.	ENSG00000138435	ENST00000348749;ENST00000261007;ENST00000409542;ENST00000409219;ENST00000409323	D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68	5.17	5.17	0.71159	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.91126	0.7206	M	0.84433	2.695	0.80722	D	1	D;P;D	0.64830	0.994;0.818;0.961	D;P;P	0.65140	0.932;0.555;0.864	D	0.92681	0.6158	10	0.87932	D	0	.	15.3121	0.74042	1.0:0.0:0.0:0.0	.	221;221;246	G5E9G9;Q53SH4;P02708	.;.;ACHA_HUMAN	T	221;246;139;221;221	ENSP00000261008:I221T;ENSP00000261007:I246T;ENSP00000387026:I139T;ENSP00000386611:I221T;ENSP00000386684:I221T	ENSP00000261007:I246T	I	-	2	0	CHRNA1	175326593	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.231000	0.95317	2.075000	0.62263	0.528000	0.53228	ATC		CHRNA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000334116.1		
TTN	7273	hgsc.bcm.edu	37	2	179604887	179604887	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr2:179604887T>C	ENST00000591111.1	-	46	12346	c.12122A>G	c.(12121-12123)gAg>gGg	p.E4041G	TTN_ENST00000342175.6_Missense_Mutation_p.E4187G|TTN_ENST00000359218.5_Missense_Mutation_p.E4120G|TTN_ENST00000589042.1_Missense_Mutation_p.E4358G|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E3995G			Q8WZ42	TITIN_HUMAN	titin	0					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTTTAGACTCAATGATTTG	0.463																																																	0			2											79.0	78.0	78.0					2																	179604887		1859	4097	5956	179313132	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.12122A>G	2.37:g.179604887T>C	ENSP00000465570:p.Glu4041Gly	Somatic		Capture	Illumina HiSeq	Phase_I	179313132	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	T	4.147	0.025761	0.08054	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.61274	0.17;0.13;0.12	5.92	4.75	0.60458	.	.	.	.	.	T	0.45458	0.1343	N	0.24115	0.695	0.09310	N	1	B;B;B	0.19817	0.011;0.011;0.039	B;B;B	0.14023	0.01;0.01;0.01	T	0.42716	-0.9435	9	0.87932	D	0	.	12.4646	0.55751	0.1257:0.0:0.0:0.8743	.	3995;4120;4187	D3DPF9;E7EQE6;E7ET18	.;.;.	G	3995;4187;4120;3995	ENSP00000434586:E3995G;ENSP00000340554:E4187G;ENSP00000352154:E4120G	ENSP00000340554:E4187G	E	-	2	0	TTN	179313132	0.000000	0.05858	0.021000	0.16686	0.049000	0.14656	0.292000	0.19011	1.044000	0.40200	-0.333000	0.08304	GAG		TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
ZNF385B	151126	hgsc.bcm.edu	37	2	180634397	180634397	+	Missense_Mutation	SNP	T	T	C	rs373649075		TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr2:180634397T>C	ENST00000410066.1	-	3	689	c.86A>G	c.(85-87)aAg>aGg	p.K29R		NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	29	Required for induction of apoptosis.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|p53 binding (GO:0002039)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			AAGAATTTTCTTTTTCTCTTT	0.468																																					Colon(155;204 2491 32774 51842)												0			2						T	ARG/LYS	1,4405	2.1+/-5.4	0,1,2202	84.0	82.0	83.0		86	4.8	1.0	2		83	0,8600		0,0,4300	no	missense	ZNF385B	NM_152520.4	26	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	possibly-damaging	29/472	180634397	1,13005	2203	4300	6503	180342642	SO:0001583	missense	151126			AK057999	CCDS33339.1, CCDS46463.1, CCDS46464.1	2q31.3-q32.1	2012-10-05	2007-12-06	2007-12-06	ENSG00000144331	ENSG00000144331			26332	protein-coding gene	gene with protein product		612344	"""zinc finger protein 533"""	ZNF533		12477932	Standard	NM_152520		Approved	FLJ25270	uc002unn.4	Q569K4	OTTHUMG00000154559	ENST00000410066.1:c.86A>G	2.37:g.180634397T>C	ENSP00000386845:p.Lys29Arg	Somatic		Capture	Illumina HiSeq	Phase_I	180342642	Q49A04|Q6ZMZ7|Q8IY01|Q8N8H2|Q96DK4	Missense_Mutation	SNP	ENST00000410066.1	37	CCDS33339.1	.	.	.	.	.	.	.	.	.	.	T	12.94	2.088850	0.36855	2.27E-4	0.0	ENSG00000144331	ENST00000410066;ENST00000451732;ENST00000438871	T;T	0.45668	0.89;0.89	5.92	4.76	0.60689	.	0.206931	0.41823	N	0.000802	T	0.31670	0.0804	L	0.29908	0.895	0.80722	D	1	B	0.06786	0.001	B	0.06405	0.002	T	0.07102	-1.0790	10	0.56958	D	0.05	-3.3751	11.0983	0.48160	0.0:0.072:0.0:0.928	.	29	Q569K4	Z385B_HUMAN	R	29	ENSP00000386845:K29R;ENSP00000409978:K29R	ENSP00000386845:K29R	K	-	2	0	ZNF385B	180342642	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.787000	0.47798	1.065000	0.40693	0.459000	0.35465	AAG		ZNF385B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335972.1	NM_152520	
ITGA4	3676	hgsc.bcm.edu	37	2	182322413	182322413	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr2:182322413C>T	ENST00000397033.2	+	1	462	c.32C>T	c.(31-33)cCc>cTc	p.P11L	ITGA4_ENST00000339307.4_Missense_Mutation_p.P11L	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	11					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)	p.P11L(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	GAACCCGGCCCCCGAAGGGCC	0.657																																																	1	Substitution - Missense(1)	lung(1)	2											13.0	17.0	16.0					2																	182322413		1888	4102	5990	182030658	SO:0001583	missense	3676				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.32C>T	2.37:g.182322413C>T	ENSP00000380227:p.Pro11Leu	Somatic		Capture	Illumina HiSeq	Phase_I	182030658	D3DPG4|Q7Z4L6	Missense_Mutation	SNP	ENST00000397033.2	37	CCDS42788.1	.	.	.	.	.	.	.	.	.	.	C	13.03	2.114921	0.37339	.	.	ENSG00000115232	ENST00000425522;ENST00000339307;ENST00000397033;ENST00000233573	D;D;D	0.92299	-3.01;-3.01;-3.01	4.5	4.5	0.54988	.	7739.210000	0.00166	N	0.000002	D	0.90352	0.6981	N	0.16478	0.41	0.09310	N	1	P;P;D	0.54047	0.535;0.535;0.964	B;B;P	0.50314	0.084;0.133;0.637	T	0.81750	-0.0790	10	0.49607	T	0.09	.	10.5807	0.45255	0.0:0.8045:0.1954:0.0	.	11;11;11	E7EP60;P13612;E7ESG7	.;ITA4_HUMAN;.	L	11	ENSP00000340149:P11L;ENSP00000380227:P11L;ENSP00000233573:P11L	ENSP00000233573:P11L	P	+	2	0	ITGA4	182030658	0.005000	0.15991	0.237000	0.24090	0.004000	0.04260	0.525000	0.22956	2.327000	0.79052	0.561000	0.74099	CCC		ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334427.1		
RFTN2	130132	hgsc.bcm.edu	37	2	198511328	198511328	+	Missense_Mutation	SNP	T	T	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr2:198511328T>A	ENST00000295049.4	-	2	738	c.202A>T	c.(202-204)Aac>Tac	p.N68Y		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2	68					dsRNA transport (GO:0033227)|response to exogenous dsRNA (GO:0043330)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						AGATAATAGTTTTCCACTTTT	0.358																																																	0			2											78.0	79.0	78.0					2																	198511328		2203	4300	6503	198219573	SO:0001583	missense	130132			AK055136	CCDS2323.1	2q33.1	2008-02-05	2006-09-28	2006-09-28	ENSG00000162944	ENSG00000162944			26402	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 11"""	C2orf11			Standard	NM_144629		Approved	FLJ30574, Raftlin-2	uc002uuo.4	Q52LD8	OTTHUMG00000132746	ENST00000295049.4:c.202A>T	2.37:g.198511328T>A	ENSP00000295049:p.Asn68Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	198219573	Q14DH4|Q2TA69|Q53QE0|Q53SE1|Q96NM3	Missense_Mutation	SNP	ENST00000295049.4	37	CCDS2323.1	.	.	.	.	.	.	.	.	.	.	T	15.81	2.943245	0.53079	.	.	ENSG00000162944	ENST00000295049;ENST00000429081	T;T	0.31510	1.49;1.49	5.39	4.52	0.55395	.	0.723544	0.14688	N	0.304357	T	0.19087	0.0458	N	0.08118	0	0.23227	N	0.998081	B	0.32717	0.381	B	0.33392	0.163	T	0.19614	-1.0300	10	0.72032	D	0.01	-8.7828	13.0908	0.59166	0.0:0.9247:0.0:0.0753	.	68	Q52LD8	RFTN2_HUMAN	Y	68	ENSP00000295049:N68Y;ENSP00000398128:N68Y	ENSP00000295049:N68Y	N	-	1	0	RFTN2	198219573	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.149000	0.50655	1.412000	0.46977	-0.221000	0.12465	AAC		RFTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256106.2	NM_144629	
CPO	130749	hgsc.bcm.edu	37	2	207827152	207827152	+	Silent	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr2:207827152A>G	ENST00000272852.3	+	7	637	c.591A>G	c.(589-591)agA>agG	p.R197R		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	197						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		GTGCCTCTAGAAACTGCCAAG	0.448																																																	0			2											166.0	164.0	164.0					2																	207827152		2203	4300	6503	207535397	SO:0001819	synonymous_variant	130749				CCDS2372.1	2q34	2012-02-10			ENSG00000144410	ENSG00000144410			21011	protein-coding gene	gene with protein product	"""metallocarboxypeptidase O"", ""metallocarboxypeptidase C"""	609563				11836249	Standard	NM_173077		Approved		uc002vby.2	Q8IVL8	OTTHUMG00000088987	ENST00000272852.3:c.591A>G	2.37:g.207827152A>G		Somatic		Capture	Illumina HiSeq	Phase_I	207535397	Q2M277|Q7RTW7	Silent	SNP	ENST00000272852.3	37	CCDS2372.1																																																																																				CPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000202040.2	NM_173077	
PTH2R	5746	hgsc.bcm.edu	37	2	209302575	209302575	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr2:209302575G>A	ENST00000272847.2	+	4	593	c.380G>A	c.(379-381)cGc>cAc	p.R127H	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	127					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	parathyroid hormone receptor activity (GO:0004991)			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)	Preotact(DB05829)	GACTGCCTTCGCTTTCTGCAG	0.378																																																	0			2											95.0	92.0	93.0					2																	209302575		2203	4300	6503	209010820	SO:0001583	missense	5746			BC036811	CCDS2383.1	2q33	2012-08-10	2007-08-24	2007-08-24	ENSG00000144407	ENSG00000144407		"""GPCR / Class B : Parathyroid hormone receptors"""	9609	protein-coding gene	gene with protein product		601469	"""parathyroid hormone receptor 2"""	PTHR2			Standard	NM_005048		Approved		uc002vdb.4	P49190	OTTHUMG00000132960	ENST00000272847.2:c.380G>A	2.37:g.209302575G>A	ENSP00000272847:p.Arg127His	Somatic		Capture	Illumina HiSeq	Phase_I	209010820	Q8N429	Missense_Mutation	SNP	ENST00000272847.2	37	CCDS2383.1	.	.	.	.	.	.	.	.	.	.	G	8.632	0.893975	0.17613	.	.	ENSG00000144407	ENST00000272847	T	0.37235	1.21	4.09	3.19	0.36642	GPCR, family 2, extracellular hormone receptor domain (2);	0.331033	0.20641	U	0.088402	T	0.14013	0.0339	N	0.02973	-0.45	0.25032	N	0.991268	B;B	0.18610	0.014;0.029	B;B	0.15484	0.002;0.013	T	0.07947	-1.0746	10	0.44086	T	0.13	.	5.7434	0.18106	0.2305:0.0:0.7695:0.0	.	16;127	B4DFN8;P49190	.;PTH2R_HUMAN	H	127	ENSP00000272847:R127H	ENSP00000272847:R127H	R	+	2	0	PTH2R	209010820	0.790000	0.28787	1.000000	0.80357	0.933000	0.57130	0.120000	0.15647	1.992000	0.58205	0.467000	0.42956	CGC		PTH2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256519.2	NM_005048	
DES	1674	hgsc.bcm.edu	37	2	220285595	220285595	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr2:220285595C>T	ENST00000373960.3	+	5	1029	c.943C>T	c.(943-945)Cgc>Tgc	p.R315C		NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	315	Coil 2B.|Rod.				cytoskeleton organization (GO:0007010)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart contraction (GO:0008016)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		CGACGCCCTGCGCCAGGCCAA	0.592																																																	0			2											87.0	81.0	83.0					2																	220285595		2203	4300	6503	219993839	SO:0001583	missense	1674			AF521879	CCDS33383.1	2q35	2014-09-17			ENSG00000175084	ENSG00000175084		"""Intermediate filaments type III"""	2770	protein-coding gene	gene with protein product	"""intermediate filament protein"""	125660				2673923, 9736733	Standard	NM_001927		Approved	CMD1I, CSM1, CSM2	uc002vll.3	P17661	OTTHUMG00000058924	ENST00000373960.3:c.943C>T	2.37:g.220285595C>T	ENSP00000363071:p.Arg315Cys	Somatic		Capture	Illumina HiSeq	Phase_I	219993839	Q15787|Q549R7|Q549R8|Q549R9|Q8IZR1|Q8IZR6|Q8NES2|Q8NEU6|Q8TAC4|Q8TCX2|Q8TD99|Q9UHN5|Q9UJ80	Missense_Mutation	SNP	ENST00000373960.3	37	CCDS33383.1	.	.	.	.	.	.	.	.	.	.	C	19.01	3.743583	0.69418	.	.	ENSG00000175084	ENST00000373960	D	0.95724	-3.79	4.91	3.96	0.45880	Filament (1);	0.000000	0.45606	D	0.000350	D	0.97879	0.9303	M	0.90198	3.095	0.48632	D	0.999681	D	0.89917	1.0	D	0.79108	0.992	D	0.98356	1.0546	10	0.87932	D	0	.	14.8167	0.70039	0.1823:0.8177:0.0:0.0	.	315	P17661	DESM_HUMAN	C	315	ENSP00000363071:R315C	ENSP00000363071:R315C	R	+	1	0	DES	219993839	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	2.350000	0.44063	2.533000	0.85409	0.561000	0.74099	CGC		DES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130240.1	NM_001927	
PAX3	5077	hgsc.bcm.edu	37	2	223096882	223096882	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr2:223096882C>T	ENST00000350526.4	-	5	843	c.707G>A	c.(706-708)cGt>cAt	p.R236H	PAX3_ENST00000336840.6_Missense_Mutation_p.R236H|PAX3_ENST00000409551.3_Missense_Mutation_p.R235H|PAX3_ENST00000392070.2_Missense_Mutation_p.R236H|PAX3_ENST00000392069.2_Missense_Mutation_p.R236H|PAX3_ENST00000344493.4_Missense_Mutation_p.R236H	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	236					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|developmental pigmentation (GO:0048066)|heart development (GO:0007507)|mammary gland specification (GO:0060594)|muscle organ development (GO:0007517)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|neuron fate commitment (GO:0048663)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of somitogenesis (GO:0014807)|sensory perception of sound (GO:0007605)|spinal cord association neuron differentiation (GO:0021527)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R236H(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCAAAAGCACGCTCCAGTTC	0.512			T	"""FOXO1A, NCOA1"""	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome																																	Dom	yes		2	2q35	5077	paired box gene 3	yes	M	1	Substitution - Missense(1)	ovary(1)	2											159.0	156.0	157.0					2																	223096882		2203	4300	6503	222805126	SO:0001583	missense	5077				CCDS2449.1, CCDS2450.1, CCDS2451.1, CCDS42825.1, CCDS2448.1, CCDS42826.1, CCDS46522.1, CCDS46523.1	2q36.1	2011-06-20	2007-07-12		ENSG00000135903	ENSG00000135903		"""Paired boxes"", ""Homeoboxes / PRD class"""	8617	protein-coding gene	gene with protein product		606597	"""Waardenburg syndrome 1"", ""paired box gene 3 (Waardenburg syndrome 1)"""	WS1		1347149	Standard	NM_181461		Approved	HUP2	uc002vmt.2	P23760	OTTHUMG00000133157	ENST00000350526.4:c.707G>A	2.37:g.223096882C>T	ENSP00000343052:p.Arg236His	Somatic		Capture	Illumina HiSeq	Phase_I	222805126	G5E9C1|Q16448|Q494Z3|Q494Z4|Q53T90|Q6GSJ9|Q86UQ2|Q86UQ3	Missense_Mutation	SNP	ENST00000350526.4	37	CCDS42826.1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.766099	0.90020	.	.	ENSG00000135903	ENST00000392069;ENST00000344493;ENST00000350526;ENST00000392070;ENST00000336840;ENST00000409551	D;D;D;D;D;D	0.96459	-4.02;-4.02;-4.02;-4.02;-4.02;-4.02	5.37	5.37	0.77165	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.98311	0.9440	M	0.84773	2.715	0.80722	D	1	D;D;D;D;D	0.89917	0.999;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.932;0.999;0.987;0.969;0.982	D	0.99267	1.0892	10	0.87932	D	0	.	19.1177	0.93348	0.0:1.0:0.0:0.0	.	236;235;236;236;236	P23760;Q494Z4;P23760-4;P23760-5;G5E9C1	PAX3_HUMAN;.;.;.;.	H	236;236;236;236;236;235	ENSP00000375921:R236H;ENSP00000342092:R236H;ENSP00000343052:R236H;ENSP00000375922:R236H;ENSP00000338767:R236H;ENSP00000386750:R235H	ENSP00000338767:R236H	R	-	2	0	PAX3	222805126	1.000000	0.71417	0.760000	0.31359	0.961000	0.63080	6.089000	0.71384	2.510000	0.84645	0.557000	0.71058	CGT		PAX3-006	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000328670.1		
SEPT2	4735	hgsc.bcm.edu	37	2	242277167	242277167	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr2:242277167A>G	ENST00000391973.2	+	7	1084	c.556A>G	c.(556-558)Act>Gct	p.T186A	SEPT2_ENST00000401990.1_Missense_Mutation_p.T196A|SEPT2_ENST00000360051.3_Missense_Mutation_p.T186A|SEPT2_ENST00000391971.2_Missense_Mutation_p.T186A|SEPT2_ENST00000407971.1_Missense_Mutation_p.T146A|SEPT2_ENST00000402092.2_Missense_Mutation_p.T186A	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	186	Septin-type G.				cilium assembly (GO:0042384)|mitotic nuclear division (GO:0007067)|neuron projection development (GO:0031175)|regulation of L-glutamate transport (GO:0002036)|regulation of protein localization (GO:0032880)|smoothened signaling pathway (GO:0007224)	actin cytoskeleton (GO:0015629)|cell surface (GO:0009986)|ciliary membrane (GO:0060170)|ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|synapse (GO:0045202)	enzyme regulator activity (GO:0030234)|GTP binding (GO:0005525)			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		AAAAGCTGACACTCTCACCCT	0.493																																																	0			2											81.0	76.0	78.0					2																	242277167		2203	4300	6503	241925840	SO:0001583	missense	23157			D28540	CCDS2548.1, CCDS63195.1, CCDS74682.1	2q37.3	2013-01-21	2005-01-11	2005-01-12	ENSG00000168385	ENSG00000168385		"""Septins"""	7729	protein-coding gene	gene with protein product		601506	"""neural precursor cell expressed, developmentally down-regulated 5"""	DIFF6, NEDD5		8697812	Standard	XM_005247011		Approved	KIAA0158, hNedd5, Pnutl3	uc002wbd.3	Q15019	OTTHUMG00000133394	ENST00000391973.2:c.556A>G	2.37:g.242277167A>G	ENSP00000375834:p.Thr186Ala	Somatic		Capture	Illumina HiSeq	Phase_I	241925840	B4DGE8|Q14132|Q53QU3|Q8IUK9|Q96CB0	Missense_Mutation	SNP	ENST00000391973.2	37	CCDS2548.1	.	.	.	.	.	.	.	.	.	.	A	21.3	4.121609	0.77436	.	.	ENSG00000168385	ENST00000391973;ENST00000428282;ENST00000360051;ENST00000391971;ENST00000401990;ENST00000407971;ENST00000402092;ENST00000391972;ENST00000421717	T;T;T;T;T;T;T;T	0.79554	1.4;1.4;1.4;1.4;1.4;-1.28;1.4;-1.28	5.23	4.09	0.47781	.	0.098605	0.64402	D	0.000002	T	0.76821	0.4041	L	0.56280	1.765	0.80722	D	1	P;P;B	0.42620	0.561;0.785;0.008	B;B;B	0.42995	0.138;0.404;0.026	T	0.77715	-0.2484	10	0.48119	T	0.1	.	10.4026	0.44239	0.9236:0.0:0.0764:0.0	.	221;146;186	Q15019-2;B5MCX3;Q15019	.;.;SEPT2_HUMAN	A	186;146;186;186;196;146;186;221;41	ENSP00000375834:T186A;ENSP00000397195:T146A;ENSP00000353157:T186A;ENSP00000375832:T186A;ENSP00000385109:T196A;ENSP00000384525:T146A;ENSP00000385172:T186A;ENSP00000408296:T41A	ENSP00000353157:T186A	T	+	1	0	SEPT2	241925840	1.000000	0.71417	0.911000	0.35937	0.982000	0.71751	7.253000	0.78320	1.982000	0.57802	0.533000	0.62120	ACT		SEPT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323177.3	NM_006155	
RPS6	6194	hgsc.bcm.edu	37	9	19378482	19378482	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr9:19378482G>T	ENST00000380394.4	-	4	438	c.380C>A	c.(379-381)aCt>aAt	p.T127N	RPS6_ENST00000380384.1_Missense_Mutation_p.T96N|RP11-513M16.8_ENST00000609982.1_RNA|RPS6_ENST00000498815.1_5'Flank|RPS6_ENST00000315377.4_Missense_Mutation_p.T96N	NM_001010.2	NP_001001.2	P62753	RS6_HUMAN	ribosomal protein S6	127					activation-induced cell death of T cells (GO:0006924)|cellular protein metabolic process (GO:0044267)|erythrocyte development (GO:0048821)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|gene expression (GO:0010467)|glucose homeostasis (GO:0042593)|insulin receptor signaling pathway (GO:0008286)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|oogenesis stage (GO:0022605)|placenta development (GO:0001890)|positive regulation of apoptotic process (GO:0043065)|ribosomal small subunit assembly (GO:0000028)|ribosomal small subunit biogenesis (GO:0042274)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|T cell differentiation in thymus (GO:0033077)|T cell proliferation involved in immune response (GO:0002309)|TOR signaling (GO:0031929)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|dendrite (GO:0030425)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural constituent of ribosome (GO:0003735)			endometrium(3)|lung(2)|ovary(1)|urinary_tract(1)	7		Colorectal(97;3.46e-05)|Myeloproliferative disorder(762;0.0255)		Lung(42;0.161)|LUSC - Lung squamous cell carcinoma(42;0.234)		AGGCACTGTAGTATCAGTCAG	0.403																																																	0			9											64.0	65.0	64.0					9																	19378482		2203	4300	6503	19368482	SO:0001583	missense	6194				CCDS6492.1	9p21	2011-04-05			ENSG00000137154	ENSG00000137154		"""S ribosomal proteins"""	10429	protein-coding gene	gene with protein product	"""40S ribosomal protein S6"", ""phosphoprotein NP33"""	180460				1577483	Standard	NM_001010		Approved	S6	uc003znv.1	P62753	OTTHUMG00000019642	ENST00000380394.4:c.380C>A	9.37:g.19378482G>T	ENSP00000369757:p.Thr127Asn	Somatic		Capture	Illumina HiSeq	Phase_I	19368482	P08227|P10660|Q4VBY7|Q8N6Z7	Missense_Mutation	SNP	ENST00000380394.4	37	CCDS6492.1	.	.	.	.	.	.	.	.	.	.	G	10.30	1.312049	0.23821	.	.	ENSG00000137154	ENST00000380394;ENST00000380384;ENST00000315377	T;T;T	0.47177	0.85;0.86;0.86	5.32	5.32	0.75619	.	0.154832	0.56097	D	0.000036	T	0.44644	0.1303	L	0.60012	1.86	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.15484	0.013;0.013	T	0.27606	-1.0069	9	.	.	.	-14.3693	14.227	0.65866	0.0:0.0:0.8508:0.1492	.	96;127	A2A3R5;P62753	.;RS6_HUMAN	N	127;96;96	ENSP00000369757:T127N;ENSP00000369745:T96N;ENSP00000369743:T96N	.	T	-	2	0	RPS6	19368482	1.000000	0.71417	0.959000	0.39883	0.110000	0.19582	3.653000	0.54446	2.646000	0.89796	0.655000	0.94253	ACT		RPS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051858.1	NM_001010	
TAF1L	138474	hgsc.bcm.edu	37	9	32632174	32632174	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr9:32632174T>C	ENST00000242310.4	-	1	3493	c.3404A>G	c.(3403-3405)cAg>cGg	p.Q1135R	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1135					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ACGTGACAGCTGAGAGCTGGT	0.468																																																	0			9											216.0	171.0	186.0					9																	32632174		2203	4300	6503	32622174	SO:0001583	missense	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.3404A>G	9.37:g.32632174T>C	ENSP00000418379:p.Gln1135Arg	Somatic		Capture	Illumina HiSeq	Phase_I	32622174	Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	T	14.28	2.489789	0.44249	.	.	ENSG00000122728	ENST00000242310	T	0.08282	3.11	0.479	0.479	0.16796	.	0.000000	0.85682	D	0.000000	T	0.08179	0.0204	L	0.56769	1.78	0.49389	D	0.999782	B	0.22800	0.075	B	0.22753	0.041	T	0.13818	-1.0495	10	0.56958	D	0.05	.	5.1959	0.15236	0.0:1.0E-4:0.0:0.9999	.	1135	Q8IZX4	TAF1L_HUMAN	R	1135	ENSP00000418379:Q1135R	ENSP00000418379:Q1135R	Q	-	2	0	TAF1L	32622174	1.000000	0.71417	0.995000	0.50966	0.677000	0.39632	5.066000	0.64351	0.426000	0.26116	0.164000	0.16699	CAG		TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2		
TRPM6	140803	hgsc.bcm.edu	37	9	77386705	77386705	+	Silent	SNP	C	C	T	rs138880537	byFrequency	TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr9:77386705C>T	ENST00000360774.1	-	25	3687	c.3450G>A	c.(3448-3450)gaG>gaA	p.E1150E	TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000449912.2_Silent_p.E1145E|TRPM6_ENST00000451710.3_Silent_p.E1150E|TRPM6_ENST00000376864.4_Silent_p.E1150E|TRPM6_ENST00000361255.3_Silent_p.E1145E|TRPM6_ENST00000376872.3_Intron	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1150					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)	p.E1150E(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CGCACTGCTCCTCAAAATCAT	0.368													C|||	2	0.000399361	0.0	0.0	5008	,	,		18292	0.0		0.002	False		,,,				2504	0.0																1	Substitution - coding silent(1)	lung(1)	9						C	,,	0,4406		0,0,2203	111.0	101.0	104.0		3435,3435,3450	-0.8	1.0	9	dbSNP_134	104	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	TRPM6	NM_001177310.1,NM_001177311.1,NM_017662.4	,,	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	,,	1145/2018,1145/2018,1150/2023	77386705	2,13004	2203	4300	6503	76576525	SO:0001819	synonymous_variant	140803			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.3450G>A	9.37:g.77386705C>T		Somatic		Capture	Illumina HiSeq	Phase_I	76576525	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	ENST00000360774.1	37	CCDS6647.1																																																																																				TRPM6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000052693.1	NM_017662	
PTCH1	5727	hgsc.bcm.edu	37	9	98231075	98231075	+	Silent	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr9:98231075A>G	ENST00000331920.6	-	14	2507	c.2208T>C	c.(2206-2208)gcT>gcC	p.A736A	PTCH1_ENST00000421141.1_Silent_p.A585A|PTCH1_ENST00000429896.2_Silent_p.A585A|PTCH1_ENST00000437951.1_Silent_p.A670A|PTCH1_ENST00000418258.1_Silent_p.A585A|PTCH1_ENST00000430669.2_Silent_p.A670A|PTCH1_ENST00000375274.2_Silent_p.A735A	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	736					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)			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)				AGTGCTTCTCAGCAAAAGATG	0.502																																																	0			9											134.0	148.0	143.0					9																	98231075		2203	4300	6503	97270896	SO:0001819	synonymous_variant	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.2208T>C	9.37:g.98231075A>G		Somatic		Capture	Illumina HiSeq	Phase_I	97270896	A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Silent	SNP	ENST00000331920.6	37	CCDS6714.1																																																																																				PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264	
TNC	3371	hgsc.bcm.edu	37	9	117808873	117808873	+	Silent	SNP	G	G	A	rs201689087		TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr9:117808873G>A	ENST00000350763.4	-	17	5352	c.4941C>T	c.(4939-4941)ttC>ttT	p.F1647F	TNC_ENST00000341037.4_Silent_p.F1465F|TNC_ENST00000340094.3_Silent_p.F1283F|TNC_ENST00000481475.1_5'Flank|TNC_ENST00000346706.3_Silent_p.F1101F|TNC_ENST00000537320.1_Intron|TNC_ENST00000535648.1_Silent_p.F1192F|TNC_ENST00000423613.2_Intron|TNC_ENST00000542877.1_Silent_p.F1284F|TNC_ENST00000345230.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1647	Fibronectin type-III 12. {ECO:0000255|PROSITE-ProRule:PRU00316}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CAAAATTGTCGAAGACCCCTT	0.502													G|||	1	0.000199681	0.0	0.0	5008	,	,		19157	0.0		0.001	False		,,,				2504	0.0																0			9											76.0	80.0	79.0					9																	117808873		2203	4300	6503	116848694	SO:0001819	synonymous_variant	7134				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.4941C>T	9.37:g.117808873G>A		Somatic		Capture	Illumina HiSeq	Phase_I	116848694	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Silent	SNP	ENST00000350763.4	37	CCDS6811.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	6.262	0.416385	0.11870	.	.	ENSG00000041982	ENST00000544972	.	.	.	5.94	4.05	0.47172	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.9139	0.35570	0.2315:0.0:0.7685:0.0	.	.	.	.	X	210	.	.	R	-	1	2	TNC	116848694	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.394000	0.44450	0.779000	0.33543	0.655000	0.94253	CGA		TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055418.2	NM_002160	
ASTN2	23245	hgsc.bcm.edu	37	9	119737511	119737511	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr9:119737511A>G	ENST00000313400.4	-	10	1965	c.1865T>C	c.(1864-1866)gTc>gCc	p.V622A	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000361209.2_Missense_Mutation_p.V571A|ASTN2_ENST00000373996.3_Missense_Mutation_p.V618A			O75129	ASTN2_HUMAN	astrotactin 2	622					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GTCTTCCGTGACGAGCACATC	0.547																																																	0			9											88.0	88.0	88.0					9																	119737511		2203	4300	6503	118777332	SO:0001583	missense	23245			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.1865T>C	9.37:g.119737511A>G	ENSP00000314038:p.Val622Ala	Somatic		Capture	Illumina HiSeq	Phase_I	118777332	A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	ENST00000313400.4	37		.	.	.	.	.	.	.	.	.	.	A	20.3	3.968187	0.74131	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.15256	2.6;2.6;2.44;2.64	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.30262	0.0759	L	0.29908	0.895	0.58432	D	0.999999	D;D;D	0.71674	0.998;0.991;0.995	D;P;D	0.77557	0.99;0.82;0.91	T	0.02179	-1.1200	9	.	.	.	-37.0355	16.1282	0.81408	1.0:0.0:0.0:0.0	.	571;622;618	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	A	622;618;345;571	ENSP00000314038:V622A;ENSP00000363108:V618A;ENSP00000363098:V345A;ENSP00000354504:V571A	.	V	-	2	0	ASTN2	118777332	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.339000	0.96797	2.209000	0.71365	0.459000	0.35465	GTC		ASTN2-201	KNOWN	basic	protein_coding	protein_coding		NM_014010	
ANAPC2	29882	hgsc.bcm.edu	37	9	140082199	140082199	+	Silent	SNP	G	G	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr9:140082199G>A	ENST00000323927.2	-	2	478	c.474C>T	c.(472-474)cgC>cgT	p.R158R	SSNA1_ENST00000322310.5_5'Flank	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	158					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		ACAAGACTCCGCGCAACATAG	0.547																																																	0			9											81.0	83.0	83.0					9																	140082199		2203	4300	6503	139202020	SO:0001819	synonymous_variant	29882			AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"""Anaphase promoting complex subunits"""	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.474C>T	9.37:g.140082199G>A		Somatic		Capture	Illumina HiSeq	Phase_I	139202020	Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Silent	SNP	ENST00000323927.2	37	CCDS7033.1																																																																																				ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366	
FLT1	2321	hgsc.bcm.edu	37	13	29001900	29001900	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr13:29001900A>G	ENST00000282397.4	-	9	1516	c.1265T>C	c.(1264-1266)cTa>cCa	p.L422P	FLT1_ENST00000541932.1_Missense_Mutation_p.L422P|FLT1_ENST00000539099.1_Missense_Mutation_p.L422P	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	422			L -> I (in a lung adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|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 MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	ATTGACAATTAGAGTGGCAGT	0.353																																																	0			13											140.0	127.0	131.0					13																	29001900		2203	4300	6503	27899900	SO:0001583	missense	2321			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.1265T>C	13.37:g.29001900A>G	ENSP00000282397:p.Leu422Pro	Somatic		Capture	Illumina HiSeq	Phase_I	27899900	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	A	18.99	3.740481	0.69304	.	.	ENSG00000102755	ENST00000282397;ENST00000541932;ENST00000539099	D;D;D	0.87571	-2.27;-2.27;-2.27	5.73	5.73	0.89815	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000001	D	0.96178	0.8754	H	0.97852	4.09	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.97789	1.0237	10	0.87932	D	0	.	16.026	0.80545	1.0:0.0:0.0:0.0	.	422;422;422;422	P17948-4;P17948-3;P17948-2;P17948	.;.;.;VGFR1_HUMAN	P	422	ENSP00000282397:L422P;ENSP00000437631:L422P;ENSP00000442630:L422P	ENSP00000282397:L422P	L	-	2	0	FLT1	27899900	1.000000	0.71417	0.794000	0.32065	0.746000	0.42486	8.219000	0.89770	2.189000	0.69895	0.528000	0.53228	CTA		FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1		
BRCA2	675	hgsc.bcm.edu	37	13	32914504	32914504	+	Silent	SNP	A	A	G	rs397507362|rs572976024		TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr13:32914504A>G	ENST00000380152.3	+	11	6245	c.6012A>G	c.(6010-6012)gaA>gaG	p.E2004E	BRCA2_ENST00000544455.1_Silent_p.E2004E			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2004					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTGAAATAGAAGATAGTACCA	0.373			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			A|||	1	0.000199681	0.0	0.0	5008	,	,		19926	0.0		0.0	False		,,,				2504	0.001				Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	0			13											59.0	63.0	62.0					13																	32914504		2203	4298	6501	31812504	SO:0001819	synonymous_variant	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.6012A>G	13.37:g.32914504A>G		Somatic		Capture	Illumina HiSeq	Phase_I	31812504	O00183|O15008|Q13879|Q5TBJ7	Silent	SNP	ENST00000380152.3	37	CCDS9344.1																																																																																				BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2	NM_000059	
SUPT20H	55578	hgsc.bcm.edu	37	13	37598536	37598536	+	Missense_Mutation	SNP	C	C	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr13:37598536C>A	ENST00000350612.6	-	18	1593	c.1373G>T	c.(1372-1374)gGt>gTt	p.G458V	SUPT20H_ENST00000360252.4_Missense_Mutation_p.G459V|SUPT20H_ENST00000356185.3_Missense_Mutation_p.G459V|SUPT20H_ENST00000475892.1_Missense_Mutation_p.G458V|SUPT20H_ENST00000542180.1_Missense_Mutation_p.G422V|SUPT20H_ENST00000464744.1_Missense_Mutation_p.G459V	NM_001014286.2	NP_001014308.2	Q8NEM7	SP20H_HUMAN	suppressor of Ty 20 homolog (S. cerevisiae)	458					autophagy (GO:0006914)|chromatin organization (GO:0006325)|gastrulation (GO:0007369)	SAGA complex (GO:0000124)|SAGA-type complex (GO:0070461)	transcription cofactor activity (GO:0003712)										ATGTTTTACACCCTTCCCCAA	0.378																																																	0			13											78.0	73.0	75.0					13																	37598536		2203	4300	6503	36496536	SO:0001583	missense	55578			AF093250	CCDS9362.1, CCDS31959.1, CCDS61311.1	13q13	2012-11-29	2012-11-29	2012-11-29	ENSG00000102710	ENSG00000102710			20596	protein-coding gene	gene with protein product	"""p38 interacting protein"", ""transcription factor (p38 interacting protein)"""	613417	"""chromosome 13 open reading frame 19"", ""family with sequence similarity 48, member A"""	C13orf19, FAM48A		12070015 , 16685401	Standard	NM_001278480		Approved	SPT20, bA421P11.4, P38IP	uc001uwg.3	Q8NEM7	OTTHUMG00000016747	ENST00000350612.6:c.1373G>T	13.37:g.37598536C>A	ENSP00000218894:p.Gly458Val	Somatic		Capture	Illumina HiSeq	Phase_I	36496536	E7ER46|Q71RF3|Q9Y6A6	Missense_Mutation	SNP	ENST00000350612.6	37	CCDS31959.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.9|20.9	4.070374|4.070374	0.76301|0.76301	.|.	.|.	ENSG00000102710|ENSG00000102710	ENST00000360252;ENST00000475892;ENST00000350612;ENST00000356185;ENST00000536874;ENST00000464744;ENST00000542180|ENST00000469488	T;T;T;T;T;T|.	0.57752|.	0.6;0.51;1.14;0.6;0.6;0.38|.	5.87|5.87	5.03|5.03	0.67393|0.67393	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.77870|0.77870	0.4195|0.4195	M|M	0.81802|0.81802	2.56|2.56	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D;D|.	0.71674|.	0.983;0.983;0.996;0.991;0.995;0.998;0.995|.	D;D;D;D;D;D;D|.	0.70487|.	0.917;0.917;0.969;0.92;0.951;0.937;0.951|.	T|T	0.79676|0.79676	-0.1704|-0.1704	10|5	0.45353|.	T|.	0.12|.	-10.1248|-10.1248	17.1383|17.1383	0.86745|0.86745	0.0:0.8736:0.1264:0.0|0.0:0.8736:0.1264:0.0	.|.	422;458;458;459;459;458;458|.	B4E2D5;B3KNI1;E7ER46;A8K8L1;Q8NEM7-2;Q8NEM7;F5GX46|.	.;.;.;.;.;FA48A_HUMAN;.|.	V|L	459;458;458;459;458;459;422|66	ENSP00000353388:G459V;ENSP00000417510:G458V;ENSP00000218894:G458V;ENSP00000348512:G459V;ENSP00000419754:G459V;ENSP00000439000:G422V|.	ENSP00000218894:G458V|.	G|V	-|-	2|1	0|0	FAM48A|FAM48A	36496536|36496536	1.000000|1.000000	0.71417|0.71417	0.556000|0.556000	0.28293|0.28293	0.750000|0.750000	0.42670|0.42670	7.056000|7.056000	0.76662|0.76662	1.476000|1.476000	0.48215|0.48215	0.585000|0.585000	0.79938|0.79938	GGT|GTG		SUPT20H-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000354766.1	NM_017569	
KDELC1	79070	hgsc.bcm.edu	37	13	103450845	103450845	+	Missense_Mutation	SNP	C	C	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr13:103450845C>T	ENST00000376004.4	-	1	512	c.176G>A	c.(175-177)gGg>gAg	p.G59E	KDELC1_ENST00000460338.1_5'UTR|BIVM_ENST00000448849.2_5'Flank|BIVM_ENST00000257336.1_5'Flank|BIVM_ENST00000419638.1_5'Flank	NM_024089.2	NP_076994.2	Q6UW63	KDEL1_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 1	59						endoplasmic reticulum lumen (GO:0005788)				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TTACTTATTCCCTGATGTATC	0.473																																																	0			13											63.0	64.0	64.0					13																	103450845		2203	4300	6503	102248846	SO:0001583	missense	79070			BC001297	CCDS9504.1	13q33	2010-11-18			ENSG00000134901	ENSG00000134901			19350	protein-coding gene	gene with protein product		611613					Standard	NM_024089		Approved	MGC5302, EP58	uc001vpq.4	Q6UW63	OTTHUMG00000017307	ENST00000376004.4:c.176G>A	13.37:g.103450845C>T	ENSP00000365172:p.Gly59Glu	Somatic		Capture	Illumina HiSeq	Phase_I	102248846	Q53HL3|Q9BVD2	Missense_Mutation	SNP	ENST00000376004.4	37	CCDS9504.1	.	.	.	.	.	.	.	.	.	.	C	35	5.469689	0.96274	.	.	ENSG00000134901	ENST00000376004	D	0.88277	-2.36	5.32	5.32	0.75619	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.94198	0.8138	M	0.79011	2.435	0.80722	D	1	D	0.61080	0.989	D	0.64877	0.93	D	0.94505	0.7713	10	0.72032	D	0.01	.	18.9883	0.92780	0.0:1.0:0.0:0.0	.	59	Q6UW63	KDEL1_HUMAN	E	59	ENSP00000365172:G59E	ENSP00000365172:G59E	G	-	2	0	KDELC1	102248846	1.000000	0.71417	0.570000	0.28473	0.995000	0.86356	7.250000	0.78287	2.648000	0.89879	0.650000	0.86243	GGG		KDELC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045699.1		
COL4A2	1284	hgsc.bcm.edu	37	13	111143590	111143590	+	Silent	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr13:111143590A>G	ENST00000360467.5	+	37	3663	c.3357A>G	c.(3355-3357)ggA>ggG	p.G1119G		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1119	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)			GTCTGAAGGGATTCTTTGGAG	0.552																																																	0			13											70.0	73.0	72.0					13																	111143590		2022	4171	6193	109941591	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.3357A>G	13.37:g.111143590A>G		Somatic		Capture	Illumina HiSeq	Phase_I	109941591	Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	ENST00000360467.5	37	CCDS41907.1																																																																																				COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846	
ING1	3621	hgsc.bcm.edu	37	13	111372142	111372142	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr13:111372142T>C	ENST00000375774.3	+	2	1594	c.1132T>C	c.(1132-1134)Tgg>Cgg	p.W378R	ING1_ENST00000333219.7_Missense_Mutation_p.W235R|ING1_ENST00000375775.3_Missense_Mutation_p.W166R|ING1_ENST00000338450.7_Missense_Mutation_p.W191R	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	378					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.W235R(1)		endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CCCCATCGAGTGGTTCCACTT	0.587																																																	1	Substitution - Missense(1)	large_intestine(1)	13											81.0	71.0	74.0					13																	111372142		2203	4300	6503	110170143	SO:0001583	missense	3621				CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"""Zinc fingers, PHD-type"""	6062	protein-coding gene	gene with protein product	"""inhibitor of growth 1"", ""tumor suppressor ING1"", ""growth inhibitor ING1"", ""growth inhibitory protein ING1"""	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.1132T>C	13.37:g.111372142T>C	ENSP00000364929:p.Trp378Arg	Somatic		Capture	Illumina HiSeq	Phase_I	110170143	O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Missense_Mutation	SNP	ENST00000375774.3	37	CCDS9517.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.243556	0.79912	.	.	ENSG00000153487	ENST00000338450;ENST00000333219;ENST00000375775;ENST00000375774	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.5	5.5	0.81552	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.85682	D	0.000000	D	0.87120	0.6098	H	0.99609	4.655	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.97110	1.0;0.999;0.994	D	0.92873	0.6316	10	0.72032	D	0.01	-40.1282	15.5913	0.76530	0.0:0.0:0.0:1.0	.	378;235;191	Q9UK53;Q5T9H0;Q9UK53-4	ING1_HUMAN;.;.	R	191;235;166;378	ENSP00000345202:W191R;ENSP00000328436:W235R;ENSP00000364930:W166R;ENSP00000364929:W378R	ENSP00000328436:W235R	W	+	1	0	ING1	110170143	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.529000	0.81952	2.089000	0.63090	0.402000	0.26972	TGG		ING1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045770.2	NM_005537	
GRK1	6011	hgsc.bcm.edu	37	13	114324053	114324053	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr13:114324053G>A	ENST00000335678.6	+	2	983	c.751G>A	c.(751-753)Gtg>Atg	p.V251M		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	251	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			CAGGTTCATCGTGTCTCTGGC	0.517																																																	0			13											210.0	216.0	214.0					13																	114324053		2098	4215	6313	113372054	SO:0001583	missense	6011					13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"""rhodopsin kinase"""	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.751G>A	13.37:g.114324053G>A	ENSP00000334876:p.Val251Met	Somatic		Capture	Illumina HiSeq	Phase_I	113372054	Q53X14	Missense_Mutation	SNP	ENST00000335678.6	37		.	.	.	.	.	.	.	.	.	.	g	17.97	3.517523	0.64634	.	.	ENSG00000185974	ENST00000335678	T	0.39592	1.07	4.36	4.36	0.52297	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.128785	0.51477	D	0.000088	T	0.65048	0.2654	.	.	.	0.58432	D	0.999995	D	0.89917	1.0	D	0.91635	0.999	T	0.70941	-0.4735	9	0.87932	D	0	-44.2014	14.7555	0.69560	0.0:0.0:1.0:0.0	.	251	Q15835	RK_HUMAN	M	251	ENSP00000334876:V251M	ENSP00000334876:V251M	V	+	1	0	GRK1	113372054	1.000000	0.71417	0.960000	0.40013	0.449000	0.32228	8.653000	0.91088	2.131000	0.65755	0.511000	0.50034	GTG		GRK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470655.1	NM_002929	
C10orf111	221060	hgsc.bcm.edu	37	10	15138522	15138522	+	Missense_Mutation	SNP	G	G	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr10:15138522G>T	ENST00000378207.3	-	2	575	c.302C>A	c.(301-303)cCt>cAt	p.P101H	RPP38_ENST00000378197.4_5'Flank|RPP38_ENST00000378202.5_5'Flank	NM_153244.1	NP_694976.1	Q8N326	CJ111_HUMAN	chromosome 10 open reading frame 111	101						integral component of membrane (GO:0016021)				lung(5)|upper_aerodigestive_tract(1)	6						TTCTGGCCAAGGGTAGATCAA	0.522																																																	0			10											113.0	116.0	115.0					10																	15138522		2203	4300	6503	15178528	SO:0001583	missense	221060			BC029034	CCDS7107.1	10p13	2004-04-20			ENSG00000176236	ENSG00000176236			28582	protein-coding gene	gene with protein product						12477932	Standard	NM_153244		Approved	MGC35468, bA455B2.4	uc001inw.3	Q8N326	OTTHUMG00000017727	ENST00000378207.3:c.302C>A	10.37:g.15138522G>T	ENSP00000367449:p.Pro101His	Somatic		Capture	Illumina HiSeq	Phase_I	15178528	B2RAC4	Missense_Mutation	SNP	ENST00000378207.3	37	CCDS7107.1	.	.	.	.	.	.	.	.	.	.	G	5.354	0.250640	0.10130	.	.	ENSG00000176236	ENST00000378207	T	0.57907	0.37	3.08	2.17	0.27698	.	.	.	.	.	T	0.44138	0.1279	N	0.08118	0	0.09310	N	1	D	0.71674	0.998	P	0.59012	0.85	T	0.22765	-1.0207	9	0.87932	D	0	.	6.3151	0.21186	0.1397:0.0:0.8603:0.0	.	101	Q8N326	CJ111_HUMAN	H	101	ENSP00000367449:P101H	ENSP00000367449:P101H	P	-	2	0	C10orf111	15178528	0.000000	0.05858	0.003000	0.11579	0.064000	0.16182	0.408000	0.21065	0.853000	0.35312	0.407000	0.27541	CCT		C10orf111-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046975.1	NM_153244	
KCNMA1	3778	hgsc.bcm.edu	37	10	78944639	78944639	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr10:78944639A>G	ENST00000286628.8	-	4	637	c.638T>C	c.(637-639)tTc>tCc	p.F213S	KCNMA1_ENST00000286627.5_Missense_Mutation_p.F213S|KCNMA1_ENST00000404857.1_Missense_Mutation_p.F213S|KCNMA1_ENST00000372443.1_Missense_Mutation_p.F213S|KCNMA1_ENST00000404771.3_Missense_Mutation_p.F213S|KCNMA1_ENST00000354353.5_Missense_Mutation_p.F213S|KCNMA1_ENST00000406533.3_Missense_Mutation_p.F213S|KCNMA1_ENST00000372440.1_Missense_Mutation_p.F213S	NM_001161352.1	NP_001154824.1	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	213					blood coagulation (GO:0007596)|cellular potassium ion homeostasis (GO:0030007)|micturition (GO:0060073)|negative regulation of cell volume (GO:0045794)|positive regulation of apoptotic process (GO:0043065)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|response to calcium ion (GO:0051592)|response to carbon monoxide (GO:0034465)|response to hypoxia (GO:0001666)|response to osmotic stress (GO:0006970)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	actin binding (GO:0003779)|calcium-activated potassium channel activity (GO:0015269)|large conductance calcium-activated potassium channel activity (GO:0060072)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)	p.F213C(1)		breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Chlorzoxazone(DB00356)|Cromoglicic acid(DB01003)|Diazoxide(DB01119)|Halothane(DB01159)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Miconazole(DB01110)|Procaine(DB00721)	CTGTAATGTGAAATCTTTGTA	0.418																																																	1	Substitution - Missense(1)	ovary(1)	10											171.0	154.0	160.0					10																	78944639		2203	4300	6503	78614645	SO:0001583	missense	3778			U11717	CCDS7352.1, CCDS60569.1, CCDS60571.1, CCDS60572.1, CCDS73156.1	10q22	2012-07-05			ENSG00000156113	ENSG00000156113		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6284	protein-coding gene	gene with protein product	"""BK channel alpha subunit"""	600150		SLO		7987297, 16382103	Standard	NM_002247		Approved	KCa1.1, mSLO1	uc001jxn.3	Q12791	OTTHUMG00000018543	ENST00000286628.8:c.638T>C	10.37:g.78944639A>G	ENSP00000286628:p.Phe213Ser	Somatic		Capture	Illumina HiSeq	Phase_I	78614645	F8WA96|Q12886|Q12917|Q12921|Q12960|Q13150|Q5JQ23|Q5SQR9|Q96LG8|Q9UBB0|Q9UCX0|Q9UQK6	Missense_Mutation	SNP	ENST00000286628.8	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.86|12.86	2.065482|2.065482	0.36470|0.36470	.|.	.|.	ENSG00000156113|ENSG00000156113	ENST00000372440;ENST00000372408;ENST00000372437;ENST00000457953;ENST00000404771;ENST00000372443;ENST00000286627;ENST00000286628;ENST00000406533;ENST00000354353;ENST00000404857|ENST00000372403	T;T;T;T;T;T;T;T;T|.	0.39997|.	1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05|.	5.31|5.31	5.31|5.31	0.75309|0.75309	.|.	0.053287|.	0.85682|.	D|.	0.000000|.	T|T	0.39708|0.39708	0.1088|0.1088	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B;B;B;B;B|.	0.28208|.	0.203;0.008;0.026;0.008;0.03;0.002|.	B;B;B;B;B;B|.	0.29077|.	0.098;0.019;0.043;0.028;0.043;0.005|.	T|T	0.32719|0.32719	-0.9896|-0.9896	10|5	0.22706|.	T|.	0.39|.	-20.8216|-20.8216	15.9692|15.9692	0.79998|0.79998	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	213;213;213;213;213;213|.	Q12791-4;B7ZMF5;Q12791-2;Q12791;Q12791-5;Q5SVJ7|.	.;.;.;KCMA1_HUMAN;.;.|.	S|P	213;150;148;187;150;213;213;187;213;213;213|164	ENSP00000361517:F213S;ENSP00000361485:F150S;ENSP00000361514:F148S;ENSP00000396608:F187S;ENSP00000361520:F213S;ENSP00000286627:F213S;ENSP00000385552:F213S;ENSP00000346321:F213S;ENSP00000385806:F213S|.	ENSP00000286627:F213S|.	F|S	-|-	2|1	0|0	KCNMA1|KCNMA1	78614645|78614645	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.216000|9.216000	0.95154|0.95154	2.302000|2.302000	0.77476|0.77476	0.533000|0.533000	0.62120|0.62120	TTC|TCA		KCNMA1-009	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000048885.3	NM_002247	
PTEN	5728	hgsc.bcm.edu	37	10	89692999	89692999	+	Silent	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr10:89692999A>G	ENST00000371953.3	+	5	1840	c.483A>G	c.(481-483)agA>agG	p.R161R		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	161	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.R55fs*1(5)|p.?(5)|p.Y27fs*1(2)|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)		TAAGGACCAGAGACAAAAAGG	0.363		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"""	50	Whole gene deletion(37)|Deletion - Frameshift(8)|Unknown(5)	prostate(16)|central_nervous_system(11)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)	10											50.0	52.0	51.0					10																	89692999		2203	4300	6503	89682979	SO:0001819	synonymous_variant	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.483A>G	10.37:g.89692999A>G		Somatic		Capture	Illumina HiSeq	Phase_I	89682979	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Silent	SNP	ENST00000371953.3	37	CCDS31238.1																																																																																				PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
TAS2R1	50834	hgsc.bcm.edu	37	5	9629599	9629599	+	Silent	SNP	C	C	T	rs371368242		TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr5:9629599C>T	ENST00000382492.2	-	1	864	c.546G>A	c.(544-546)gaG>gaA	p.E182E	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	182					chemosensory behavior (GO:0007635)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)|taste receptor activity (GO:0008527)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GCACTGAGAACTCAGCAACAA	0.428																																																	0			5						C		0,4406		0,0,2203	74.0	82.0	79.0		546	-2.1	0.0	5		79	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TAS2R1	NM_019599.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		182/300	9629599	1,13005	2203	4300	6503	9682599	SO:0001819	synonymous_variant	50834			AF227129	CCDS3876.1	5p15	2012-08-22			ENSG00000169777	ENSG00000169777		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	14909	protein-coding gene	gene with protein product		604796				10761934, 10766242	Standard	NM_019599		Approved	T2R1, TRB7	uc003jem.1	Q9NYW7	OTTHUMG00000090500	ENST00000382492.2:c.546G>A	5.37:g.9629599C>T		Somatic		Capture	Illumina HiSeq	Phase_I	9682599	Q646G8	Silent	SNP	ENST00000382492.2	37	CCDS3876.1																																																																																				TAS2R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206988.2		
ADAMTS12	81792	hgsc.bcm.edu	37	5	33577194	33577194	+	Silent	SNP	G	G	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr5:33577194G>A	ENST00000504830.1	-	19	3272	c.2937C>T	c.(2935-2937)tgC>tgT	p.C979C	ADAMTS12_ENST00000352040.3_Silent_p.C894C|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	979	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.C979C(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TTGTCACATCGCAAGGTTCAT	0.507										HNSCC(64;0.19)																																							2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)	5											129.0	123.0	125.0					5																	33577194		2203	4300	6503	33612951	SO:0001819	synonymous_variant	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2937C>T	5.37:g.33577194G>A		Somatic		Capture	Illumina HiSeq	Phase_I	33612951	A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	CCDS34140.1																																																																																				ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
ADAMTS12	81792	hgsc.bcm.edu	37	5	33643573	33643573	+	Silent	SNP	G	G	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr5:33643573G>A	ENST00000504830.1	-	10	1817	c.1482C>T	c.(1480-1482)aaC>aaT	p.N494N	ADAMTS12_ENST00000352040.3_Silent_p.N494N|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	494	Disintegrin.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.N494K(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTGGCAGACGTTCTAGAAAA	0.443										HNSCC(64;0.19)																																							1	Substitution - Missense(1)	ovary(1)	5											111.0	114.0	113.0					5																	33643573		2203	4300	6503	33679330	SO:0001819	synonymous_variant	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.1482C>T	5.37:g.33643573G>A		Somatic		Capture	Illumina HiSeq	Phase_I	33679330	A2RRN9|A5D6V6|Q6UWL3	Silent	SNP	ENST00000504830.1	37	CCDS34140.1																																																																																				ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955	
AGGF1	55109	hgsc.bcm.edu	37	5	76355533	76355533	+	Silent	SNP	T	T	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr5:76355533T>A	ENST00000312916.7	+	12	2191	c.1809T>A	c.(1807-1809)acT>acA	p.T603T		NM_018046.4	NP_060516.2	Q8N302	AGGF1_HUMAN	angiogenic factor with G patch and FHA domains 1	603					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|RNA processing (GO:0006396)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|perinuclear region of cytoplasm (GO:0048471)	nucleic acid binding (GO:0003676)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	20		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;4.51e-51)|Epithelial(54;2.2e-45)|all cancers(79;6.68e-41)		GTGAAGGAACTTTCCAAAGAG	0.368																																																	0			5											97.0	96.0	97.0					5																	76355533		2203	4300	6503	76391289	SO:0001819	synonymous_variant	55109			AK001145	CCDS4035.1	5q13.3	2013-10-11			ENSG00000164252	ENSG00000164252		"""G patch domain containing"""	24684	protein-coding gene	gene with protein product		608464				18564129, 17103452	Standard	NM_018046		Approved	VG5Q, HSU84971, FLJ10283, GPATC7, GPATCH7	uc003ket.3	Q8N302	OTTHUMG00000102132	ENST00000312916.7:c.1809T>A	5.37:g.76355533T>A		Somatic		Capture	Illumina HiSeq	Phase_I	76391289	O00581|Q53YS3|Q9BU84|Q9NW66	Silent	SNP	ENST00000312916.7	37	CCDS4035.1																																																																																				AGGF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219971.2	NM_018046	
DMGDH	29958	hgsc.bcm.edu	37	5	78322314	78322314	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr5:78322314T>C	ENST00000255189.3	-	13	2151	c.2123A>G	c.(2122-2124)gAc>gGc	p.D708G	DMGDH_ENST00000540686.1_Missense_Mutation_p.D328G|DMGDH_ENST00000380311.4_Missense_Mutation_p.D507G	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	708					amino-acid betaine catabolic process (GO:0006579)|choline metabolic process (GO:0019695)|glycine catabolic process (GO:0006546)|glycine metabolic process (GO:0006544)	mitochondrial matrix (GO:0005759)	aminomethyltransferase activity (GO:0004047)|dimethylglycine dehydrogenase activity (GO:0047865)|electron carrier activity (GO:0009055)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TCCAAAATTGTCGATTCCCTC	0.458																																																	0			5											118.0	107.0	111.0					5																	78322314		2203	4300	6503	78358070	SO:0001583	missense	29958			AF111858	CCDS4044.1	5q14.1	2008-02-05			ENSG00000132837	ENSG00000132837	1.5.99.2		24475	protein-coding gene	gene with protein product		605849				10767172, 11231903	Standard	NM_013391		Approved		uc003kfs.3	Q9UI17	OTTHUMG00000108159	ENST00000255189.3:c.2123A>G	5.37:g.78322314T>C	ENSP00000255189:p.Asp708Gly	Somatic		Capture	Illumina HiSeq	Phase_I	78358070	B2RBN0|B4E1J9	Missense_Mutation	SNP	ENST00000255189.3	37	CCDS4044.1	.	.	.	.	.	.	.	.	.	.	T	8.025	0.760553	0.15914	.	.	ENSG00000132837	ENST00000255189;ENST00000523732;ENST00000380311;ENST00000540686;ENST00000539598	T;T;T;T	0.74737	-0.87;-0.87;-0.87;-0.87	5.32	-0.162	0.13367	Glycine cleavage T-protein, N-terminal (1);	0.186054	0.56097	N	0.000033	T	0.38295	0.1035	N	0.01277	-0.915	0.45995	D	0.998804	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.12156	0.007;0.001;0.0;0.0	T	0.02661	-1.1127	10	0.18710	T	0.47	.	6.0936	0.20008	0.0:0.2046:0.1256:0.6698	.	328;507;558;708	B4E1J9;F8W6P8;F5H1C7;Q9UI17	.;.;.;M2GD_HUMAN	G	708;547;507;328;558	ENSP00000255189:D708G;ENSP00000430972:D547G;ENSP00000369667:D507G;ENSP00000439478:D328G	ENSP00000255189:D708G	D	-	2	0	DMGDH	78358070	1.000000	0.71417	0.964000	0.40570	0.907000	0.53573	2.648000	0.46647	-0.242000	0.09667	0.459000	0.35465	GAC		DMGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226963.3	NM_013391	
CMYA5	202333	hgsc.bcm.edu	37	5	79027026	79027026	+	Missense_Mutation	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr5:79027026A>G	ENST00000446378.2	+	2	2469	c.2438A>G	c.(2437-2439)aAg>aGg	p.K813R		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	813					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)		p.K813R(3)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAATCTCAAAAGAAAATAATC	0.448																																																	3	Substitution - Missense(3)	lung(3)	5											85.0	80.0	82.0					5																	79027026		1923	4134	6057	79062782	SO:0001583	missense	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.2438A>G	5.37:g.79027026A>G	ENSP00000394770:p.Lys813Arg	Somatic		Capture	Illumina HiSeq	Phase_I	79062782	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	ENST00000446378.2	37	CCDS47238.1	.	.	.	.	.	.	.	.	.	.	A	14.33	2.502453	0.44455	.	.	ENSG00000164309	ENST00000446378	T	0.39592	1.07	5.41	1.63	0.23807	.	0.766243	0.11893	N	0.519392	T	0.41604	0.1166	L	0.58428	1.81	0.09310	N	1	P	0.52842	0.956	P	0.47299	0.543	T	0.28202	-1.0051	10	0.66056	D	0.02	.	5.3538	0.16050	0.6938:0.1484:0.1578:0.0	.	813	Q8N3K9	CMYA5_HUMAN	R	813	ENSP00000394770:K813R	ENSP00000394770:K813R	K	+	2	0	CMYA5	79062782	0.006000	0.16342	0.001000	0.08648	0.005000	0.04900	0.367000	0.20382	0.103000	0.17682	0.528000	0.53228	AAG		CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369497.1	NM_153610	
GPR98	84059	hgsc.bcm.edu	37	5	90052963	90052963	+	Silent	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr5:90052963A>G	ENST00000405460.2	+	57	12021	c.11925A>G	c.(11923-11925)gaA>gaG	p.E3975E		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3975	Calx-beta 26. {ECO:0000255}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGATTCTTGAATTTGCAGATA	0.418																																																	0			5											77.0	79.0	79.0					5																	90052963		1871	4116	5987	90088719	SO:0001819	synonymous_variant	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.11925A>G	5.37:g.90052963A>G		Somatic		Capture	Illumina HiSeq	Phase_I	90088719	O75171|Q8TF58|Q9H0X5|Q9UL61	Silent	SNP	ENST00000405460.2	37	CCDS47246.1	.	.	.	.	.	.	.	.	.	.	A	6.698	0.497523	0.12762	.	.	ENSG00000164199	ENST00000509621	.	.	.	5.08	-0.254	0.12992	.	.	.	.	.	T	0.51109	0.1655	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.39272	-0.9622	4	.	.	.	.	5.9256	0.19110	0.4594:0.3165:0.2241:0.0	.	.	.	.	S	1541	.	.	N	+	2	0	GPR98	90088719	0.985000	0.35326	0.996000	0.52242	0.754000	0.42855	0.244000	0.18124	0.077000	0.16863	0.383000	0.25322	AAT		GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369993.2	NM_032119	
APC	324	hgsc.bcm.edu	37	5	112154955	112154955	+	Missense_Mutation	SNP	T	T	C			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr5:112154955T>C	ENST00000457016.1	+	10	1606	c.1226T>C	c.(1225-1227)cTt>cCt	p.L409P	APC_ENST00000257430.4_Missense_Mutation_p.L409P|APC_ENST00000508376.2_Missense_Mutation_p.L409P			P25054	APC_HUMAN	adenomatous polyposis coli	409	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)		GTCCTTCATCTTTTGGAACAG	0.502		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											52.0	51.0	51.0					5																	112154955		2202	4300	6502	112182854	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.1226T>C	5.37:g.112154955T>C	ENSP00000413133:p.Leu409Pro	Somatic		Capture	Illumina HiSeq	Phase_I	112182854	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.440011	0.83993	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.94	5.94	0.96194	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76695	0.4023	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	T	0.78723	-0.2093	10	0.87932	D	0	-14.1993	16.4445	0.83913	0.0:0.0:0.0:1.0	.	411;409	Q4LE70;P25054	.;APC_HUMAN	P	409;391;409;409;409	ENSP00000413133:L409P;ENSP00000423224:L391P;ENSP00000257430:L409P;ENSP00000427089:L409P;ENSP00000423828:L409P	ENSP00000257430:L409P	L	+	2	0	APC	112182854	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.040000	0.89188	2.284000	0.76573	0.529000	0.55759	CTT		APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
FBN2	2201	hgsc.bcm.edu	37	5	127685090	127685090	+	Missense_Mutation	SNP	A	A	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr5:127685090A>T	ENST00000508053.1	-	29	3912	c.2938T>A	c.(2938-2940)Tgc>Agc	p.C980S	FBN2_ENST00000262464.4_Missense_Mutation_p.C980S|FBN2_ENST00000508989.1_Missense_Mutation_p.C947S			P35556	FBN2_HUMAN	fibrillin 2	980	EGF-like 14; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGGCACTCGCAATGAAAAGAT	0.468																																																	0			5											120.0	99.0	106.0					5																	127685090		2203	4300	6503	127712989	SO:0001583	missense	2201			U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.2938T>A	5.37:g.127685090A>T	ENSP00000424571:p.Cys980Ser	Somatic		Capture	Illumina HiSeq	Phase_I	127712989	B4DU01|Q59ES6	Missense_Mutation	SNP	ENST00000508053.1	37	CCDS34222.1	.	.	.	.	.	.	.	.	.	.	A	25.0	4.596649	0.86953	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.99429	-5.89;-5.89;-5.89	4.04	4.04	0.47022	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000005	D	0.99725	0.9893	H	0.98818	4.34	0.80722	D	1	D;B	0.67145	0.996;0.007	D;B	0.70016	0.967;0.008	D	0.97003	0.9730	10	0.87932	D	0	.	14.0381	0.64658	1.0:0.0:0.0:0.0	.	947;980	D6RJI3;P35556	.;FBN2_HUMAN	S	980;980;947	ENSP00000262464:C980S;ENSP00000424571:C980S;ENSP00000425596:C947S	ENSP00000262464:C980S	C	-	1	0	FBN2	127712989	1.000000	0.71417	0.990000	0.47175	0.990000	0.78478	9.013000	0.93629	2.070000	0.61991	0.533000	0.62120	TGC		FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371618.2	NM_001999	
AFF4	27125	hgsc.bcm.edu	37	5	132270223	132270223	+	Silent	SNP	A	A	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr5:132270223A>G	ENST00000265343.5	-	3	913	c.534T>C	c.(532-534)tcT>tcC	p.S178S	AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Silent_p.S178S	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	178	Ser-rich.				spermatid development (GO:0007286)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	sequence-specific DNA binding transcription factor activity (GO:0003700)		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CAGGGCTGGAAGAACGTGATT	0.473																																					Ovarian(126;889 1733 2942 10745 11605)												0			5											142.0	141.0	141.0					5																	132270223		2203	4300	6503	132298122	SO:0001819	synonymous_variant	27125			AF197927	CCDS4164.1	5q31	2006-04-28			ENSG00000072364	ENSG00000072364			17869	protein-coding gene	gene with protein product	"""ALL1 fused gene from 5q31"""	604417				10588740	Standard	XM_005271963		Approved	AF5Q31, MCEF	uc003kyd.3	Q9UHB7	OTTHUMG00000059838	ENST00000265343.5:c.534T>C	5.37:g.132270223A>G		Somatic		Capture	Illumina HiSeq	Phase_I	132298122	B2RP19|B7WPD2|Q498B2|Q59FB3|Q6P592|Q8TDR1|Q9P0E4	Silent	SNP	ENST00000265343.5	37	CCDS4164.1																																																																																				AFF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133049.1	NM_014423	
PPP2R2B	5521	hgsc.bcm.edu	37	5	146257573	146257573	+	Missense_Mutation	SNP	G	G	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr5:146257573G>A	ENST00000394413.3	-	1	632	c.62C>T	c.(61-63)gCg>gTg	p.A21V	PPP2R2B_ENST00000394414.1_Missense_Mutation_p.A87V|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.A79V|PPP2R2B_ENST00000394410.2_Intron|PPP2R2B_ENST00000508545.2_Intron|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.A21V|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.A21V|PPP2R2B_ENST00000504198.1_Intron|PPP2R2B_ENST00000336640.6_Intron|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.A21V			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	21					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCTTCGGTCGCATAGCTGTG	0.617																																																	0			5											113.0	95.0	101.0					5																	146257573		2203	4300	6503	146237766	SO:0001583	missense	5521			M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.62C>T	5.37:g.146257573G>A	ENSP00000377935:p.Ala21Val	Somatic		Capture	Illumina HiSeq	Phase_I	146237766	A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	ENST00000394413.3	37	CCDS4284.1	.	.	.	.	.	.	.	.	.	.	G	13.13	2.144766	0.37825	.	.	ENSG00000156475	ENST00000394413;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394409	T;T;T;T;T;T	0.72167	-0.63;1.66;-0.63;-0.63;-0.63;1.66	4.56	3.69	0.42338	WD40 repeat-like-containing domain (1);	0.265667	0.22617	U	0.057757	T	0.28632	0.0709	N	0.00226	-1.805	0.80722	D	1	B;B	0.09022	0.002;0.0	B;B	0.06405	0.002;0.001	T	0.46624	-0.9178	10	0.02654	T	1	-0.6041	11.6292	0.51164	0.0886:0.0:0.9114:0.0	.	79;21	Q00005-4;Q00005	.;2ABB_HUMAN	V	21;87;21;21;21;79	ENSP00000377935:A21V;ENSP00000377936:A87V;ENSP00000377933:A21V;ENSP00000349283:A21V;ENSP00000398779:A21V;ENSP00000377931:A79V	ENSP00000349283:A21V	A	-	2	0	AC011357.1	146237766	1.000000	0.71417	1.000000	0.80357	0.894000	0.52154	5.580000	0.67464	1.159000	0.42565	-0.258000	0.10820	GCG		PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251893.2	NM_181678	
GEMIN5	25929	hgsc.bcm.edu	37	5	154287314	154287314	+	Silent	SNP	C	C	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr5:154287314C>T	ENST00000285873.7	-	16	2307	c.2232G>A	c.(2230-2232)aaG>aaA	p.K744K		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	744	Poly-Lys.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|protein complex assembly (GO:0006461)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)	poly(A) RNA binding (GO:0044822)|snRNA binding (GO:0017069)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGGGCTTTTTCTTCTTTTTGG	0.393																																																	0			5											187.0	189.0	188.0					5																	154287314		2203	4300	6503	154267507	SO:0001819	synonymous_variant	25929			AK022748	CCDS4330.1	5q34	2013-01-10			ENSG00000082516	ENSG00000082516		"""WD repeat domain containing"""	20043	protein-coding gene	gene with protein product		607005				11714716	Standard	NM_015465		Approved		uc003lvx.3	Q8TEQ6	OTTHUMG00000130189	ENST00000285873.7:c.2232G>A	5.37:g.154287314C>T		Somatic		Capture	Illumina HiSeq	Phase_I	154267507	Q14CV0|Q8WWV4|Q969W4|Q9H9K3|Q9UFI5	Silent	SNP	ENST00000285873.7	37	CCDS4330.1																																																																																				GEMIN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252507.1		
CDHR2	54825	hgsc.bcm.edu	37	5	176005458	176005458	+	Missense_Mutation	SNP	T	T	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr5:176005458T>A	ENST00000510636.1	+	16	1941	c.1667T>A	c.(1666-1668)cTg>cAg	p.L556Q	CDHR2_ENST00000506348.1_Missense_Mutation_p.L556Q|CDHR2_ENST00000261944.5_Missense_Mutation_p.L556Q	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	556	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GTGTACTACCTGACGCTGCAG	0.632																																																	0			5											73.0	57.0	62.0					5																	176005458		2203	4300	6503	175938064	SO:0001583	missense	0			AB047004	CCDS34297.1	5q35.2	2011-07-01	2010-01-25	2010-01-25		ENSG00000074276		"""Cadherins / Cadherin-related"""	18231	protein-coding gene	gene with protein product	"""protocadherin LKC"""		"""protocadherin 24"""	PCDH24		11082270, 12117771	Standard	NM_001171976		Approved	PC-LKC, FLJ20124, FLJ20383, PCLKC	uc003mem.2	Q9BYE9		ENST00000510636.1:c.1667T>A	5.37:g.176005458T>A	ENSP00000424565:p.Leu556Gln	Somatic		Capture	Illumina HiSeq	Phase_I	175938064	A1L3U4|A6NC80|Q9NXP8	Missense_Mutation	SNP	ENST00000510636.1	37	CCDS34297.1	.	.	.	.	.	.	.	.	.	.	T	15.60	2.882220	0.51908	.	.	ENSG00000074276	ENST00000510636;ENST00000261944;ENST00000506348	T;T;T	0.74421	-0.84;-0.84;-0.84	5.33	5.33	0.75918	Cadherin (5);Cadherin-like (1);	.	.	.	.	D	0.88051	0.6333	H	0.95574	3.69	0.37403	D	0.912935	D	0.89917	1.0	D	0.81914	0.995	D	0.90562	0.4516	9	0.87932	D	0	-13.9385	5.7398	0.18087	0.0:0.2133:0.0:0.7867	.	556	Q9BYE9	CDHR2_HUMAN	Q	556	ENSP00000424565:L556Q;ENSP00000261944:L556Q;ENSP00000421078:L556Q	ENSP00000261944:L556Q	L	+	2	0	CDHR2	175938064	1.000000	0.71417	0.981000	0.43875	0.300000	0.27592	2.105000	0.41825	2.026000	0.59711	0.443000	0.29094	CTG		CDHR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372201.1	NM_017675	
ROS1	6098	hgsc.bcm.edu	37	6	117665427	117665427	+	Splice_Site	SNP	T	T	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr6:117665427T>A	ENST00000368508.3	-	27	4520		c.e27-2		GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Splice_Site	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase						cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.?(1)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACGCTTTATCTAAAATAAGAA	0.323			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	1	Unknown(1)	central_nervous_system(1)	6											109.0	108.0	108.0					6																	117665427		2203	4300	6503	117772120	SO:0001630	splice_region_variant	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.4322-2A>T	6.37:g.117665427T>A		Somatic		Capture	Illumina HiSeq	Phase_I	117772120	Q15368|Q5TDB5	Splice_Site	SNP	ENST00000368508.3	37	CCDS5116.1	.	.	.	.	.	.	.	.	.	.	T	13.10	2.135550	0.37728	.	.	ENSG00000047936	ENST00000368508;ENST00000368507	.	.	.	5.16	3.91	0.45181	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.6017	0.33749	0.1712:0.0:0.0:0.8288	.	.	.	.	.	-1	.	.	.	-	.	.	ROS1	117772120	1.000000	0.71417	1.000000	0.80357	0.544000	0.35116	3.397000	0.52572	2.077000	0.62373	0.459000	0.35465	.		ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1		Intron
THBS2	7058	hgsc.bcm.edu	37	6	169650827	169650827	+	Splice_Site	SNP	C	C	T			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr6:169650827C>T	ENST00000366787.3	-	3	302		c.e3+1			NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2						cell adhesion (GO:0007155)|negative regulation of angiogenesis (GO:0016525)|positive regulation of synapse assembly (GO:0051965)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|platelet alpha granule (GO:0031091)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)	p.?(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		AGGACACTCACCTTGCGTGCT	0.542																																					Esophageal Squamous(91;219 1934 18562 44706)												1	Unknown(1)	ovary(1)	6											58.0	49.0	52.0					6																	169650827		2203	4300	6503	169392752	SO:0001630	splice_region_variant	7058				CCDS34574.1	6q27	2008-07-28			ENSG00000186340	ENSG00000186340			11786	protein-coding gene	gene with protein product		188061				18455130	Standard	NM_003247		Approved	TSP2	uc003qwt.3	P35442	OTTHUMG00000045408	ENST00000366787.3:c.52+1G>A	6.37:g.169650827C>T		Somatic		Capture	Illumina HiSeq	Phase_I	169392752	A6H8N1|A7E232|Q5RI52	Splice_Site	SNP	ENST00000366787.3	37	CCDS34574.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879802	0.33162	.	.	ENSG00000186340	ENST00000366787;ENST00000435791	.	.	.	4.85	4.85	0.62838	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.3763	0.60741	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	THBS2	169392752	1.000000	0.71417	0.997000	0.53966	0.313000	0.28021	3.140000	0.50585	2.515000	0.84797	0.655000	0.94253	.		THBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105439.1	NM_003247	Intron
MAP2	4133	hgsc.bcm.edu	37	2	210561666	210561667	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr2:210561666_210561667insA	ENST00000360351.4	+	9	4919_4920	c.4413_4414insA	c.(4414-4416)aaafs	p.K1472fs	MAP2_ENST00000475600.1_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Frame_Shift_Ins_p.K1468fs	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1472					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.T1474fs*14(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CTGAACTTGCTAAAAAAACAGA	0.366																																					Pancreas(27;423 979 28787 29963)												1	Deletion - Frameshift(1)	large_intestine(1)	2																																								210269912	SO:0001589	frameshift_variant	10988				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4420dupA	2.37:g.210561673_210561673dupA	ENSP00000353508:p.Lys1472fs	Somatic		Capture	Illumina HiSeq	Phase_I	210269911	Q17S04|Q8IUX2|Q99975|Q99976	Frame_Shift_Ins	INS	ENST00000360351.4	37	CCDS2384.1																																																																																				MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538	
MUC4	4585	hgsc.bcm.edu	37	3	195508442	195508537	+	In_Frame_Del	DEL	CTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	CTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	-	rs568124972|rs545603027|rs200820395|rs535230509|rs200195189|rs574066429|rs201933946|rs374619108|rs200683272|rs76305071|rs568102602|rs553845624|rs566110482|rs146135943|rs201164988|rs71187746|rs141064104|rs199896372|rs368202391|rs62282476|rs541132330|rs150322486|rs201319965|rs148923966|rs537438050|rs549411987|rs531526881|rs540026448|rs534369822|rs80085168|rs202097189|rs201298940|rs549350827|rs113686997|rs201195860|rs543837546	byFrequency	TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	CTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	CTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr3:195508442_195508537delCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	ENST00000463781.3	-	2	10373_10468	c.9914_10009delTATCCACAGGTCACGCCACTCCTCTTCTTGTCACCGACGCTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAG	c.(9913-10011)gtatccacaggtcacgccactcctcttcttgtcaccgacgcttcctcagcatccacaggtcacgccacccctcttcatgtcaccagcccttcctcagca>gca	p.VSTGHATPLLVTDASSASTGHATPLHVTSPSS3305del	MUC4_ENST00000475231.1_In_Frame_Del_p.VSTGHATPLLVTDASSASTGHATPLHVTSPSS3305del|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_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)	p.D3317E(2)|p.H3325Q(2)|p.A3310T(2)|p.H3309D(2)|p.V3305A(1)|p.D3317N(1)|p.V3305_S3336delVSTGHATPLLVTDASSASTGHATPLHVTSPSS(1)|p.L3314P(1)|p.V3305_S3320delVSTGHATPLLVTDASS(1)|p.S3317R(1)		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)		CCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATACTGAGGAAGT	0.574																																																	14	Substitution - Missense(12)|Deletion - In frame(2)	stomach(11)|lung(2)|kidney(1)	3																																								196993316	SO:0001651	inframe_deletion	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.9914_10009delTATCCACAGGTCACGCCACTCCTCTTCTTGTCACCGACGCTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAG	3.37:g.195508442_195508537delCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	ENSP00000417498:p.Val3305_Ser3336del	Somatic		Capture	Illumina HiSeq	Phase_I	196993221	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
CRIPAK	285464	hgsc.bcm.edu	37	4	1389220	1389248	+	Frame_Shift_Del	DEL	TGGAGTGCCCGCCTGCTCACGTGCCCATA	TGGAGTGCCCGCCTGCTCACGTGCCCATA	-	rs1140009|rs200438890|rs141376932|rs550271289|rs150174653|rs145563943|rs547759244	byFrequency	TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	TGGAGTGCCCGCCTGCTCACGTGCCCATA	TGGAGTGCCCGCCTGCTCACGTGCCCATA					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr4:1389220_1389248delTGGAGTGCCCGCCTGCTCACGTGCCCATA	ENST00000324803.4	+	1	3881_3909	c.921_949delTGGAGTGCCCGCCTGCTCACGTGCCCATA	c.(919-951)cgtggagtgcccgcctgctcacgtgcccatatgfs	p.GVPACSRAHM308fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	308					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P310fs*95(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CGTGCCGACGTGGAGTGCCCGCCTGCTCACGTGCCCATATGGAGTGCCC	0.668																																																	1	Deletion - Frameshift(1)	prostate(1)	4								1378,2876		542,294,1291						0.8	0.0			153	3662,4580		1557,548,2016	no	frameshift	CRIPAK	NM_175918.3		2099,842,3307	A1A1,A1R,RR		44.431,32.393,40.3329				5040,7456				1379248	SO:0001589	frameshift_variant	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.921_949delTGGAGTGCCCGCCTGCTCACGTGCCCATA	4.37:g.1389220_1389248delTGGAGTGCCCGCCTGCTCACGTGCCCATA	ENSP00000323978:p.Gly308fs	Somatic		Capture	Illumina HiSeq	Phase_I	1379220	Q8NB03	Frame_Shift_Del	DEL	ENST00000324803.4	37	CCDS3349.1																																																																																				CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
KIT	3815	hgsc.bcm.edu	37	4	55569914	55569915	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr4:55569914_55569915insG	ENST00000288135.5	+	5	878_879	c.781_782insG	c.(781-783)agcfs	p.S261fs		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	261	Ig-like C2-type 3.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAAATATAATAGCTGGCATCAC	0.342		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																														yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	0			4																																								55264672	SO:0001589	frameshift_variant	3815	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.782dupG	4.37:g.55569915_55569915dupG	ENSP00000288135:p.Ser261fs	Somatic		Capture	Illumina HiSeq	Phase_I	55264671	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Frame_Shift_Ins	INS	ENST00000288135.5	37	CCDS3496.1																																																																																				KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1		
APC	324	hgsc.bcm.edu	37	5	112175322	112175322	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr5:112175322delC	ENST00000457016.1	+	16	4411	c.4031delC	c.(4030-4032)tcafs	p.S1344fs	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Frame_Shift_Del_p.S1344fs|APC_ENST00000508376.2_Frame_Shift_Del_p.S1344fs			P25054	APC_HUMAN	adenomatous polyposis coli	1344	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.S1344*(2)|p.S1335fs*70(1)|p.K1192fs*3(1)|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)		AGTTTATCTTCAGAATCAGCC	0.473		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	Substitution - Nonsense(2)|Deletion - Frameshift(2)|Unknown(1)	large_intestine(3)|soft_tissue(1)|skin(1)	5											57.0	61.0	59.0					5																	112175322		2202	4300	6502	112203221	SO:0001589	frameshift_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.4031delC	5.37:g.112175322delC	ENSP00000413133:p.Ser1344fs	Somatic		Capture	Illumina HiSeq	Phase_I	112203221	D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Del	DEL	ENST00000457016.1	37	CCDS4107.1																																																																																				APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
KIAA1429	25962	hgsc.bcm.edu	37	8	95531470	95531470	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr8:95531470delA	ENST00000297591.5	-	9	2331	c.2256delT	c.(2254-2256)gttfs	p.V752fs	KIAA1429_ENST00000421249.2_Frame_Shift_Del_p.V752fs|KIAA1429_ENST00000437199.1_Frame_Shift_Del_p.V752fs	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	752					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CATCATCAATAACACCATCAG	0.398																																																	0			8											110.0	92.0	98.0					8																	95531470		2203	4300	6503	95600646	SO:0001589	frameshift_variant	25962			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.2256delT	8.37:g.95531470delA	ENSP00000297591:p.Val752fs	Somatic		Capture	Illumina HiSeq	Phase_I	95600646	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Frame_Shift_Del	DEL	ENST00000297591.5	37	CCDS34923.1																																																																																				KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496	
TMEM52B	120939	hgsc.bcm.edu	37	12	10339027	10339028	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr12:10339027_10339028insG	ENST00000381923.2	+	5	550_551	c.146_147insG	c.(145-150)gtggtafs	p.V50fs	TMEM52B_ENST00000536952.1_Frame_Shift_Ins_p.V50fs|TMEM52B_ENST00000298530.3_Frame_Shift_Ins_p.V30fs			Q4KMG9	TM52B_HUMAN	transmembrane protein 52B	50						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											AGGTTGCTAGTGGTAATTGGCG	0.569																																																	0			12																																								10230295	SO:0001589	frameshift_variant	120939			AY358845	CCDS8619.1, CCDS66314.1	12p13.2	2012-08-15	2012-08-15	2012-08-15	ENSG00000165685	ENSG00000165685			26438	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 59"""	C12orf59		12975309	Standard	XM_005253299		Approved	FLJ31166	uc001qxq.3	Q4KMG9	OTTHUMG00000168410	ENST00000381923.2:c.148dupG	12.37:g.10339029_10339029dupG	ENSP00000371348:p.Val50fs	Somatic		Capture	Illumina HiSeq	Phase_I	10230294	Q96NA7	Frame_Shift_Ins	INS	ENST00000381923.2	37																																																																																					TMEM52B-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000399645.1	NM_153022	
KRT4	3851	hgsc.bcm.edu	37	12	53207602	53207603	+	Frame_Shift_Ins	INS	-	-	G	rs7135148|rs71092788		TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr12:53207602_53207603insG	ENST00000551956.1	-	1	732_733	c.240_241insC	c.(238-243)tttggcfs	p.G81fs	KRT4_ENST00000458244.2_Frame_Shift_Ins_p.G61fs|KRT4_ENST00000293774.4_Frame_Shift_Ins_p.G155fs			P19013	K2C4_HUMAN	keratin 4	81	Gly-rich.|Head.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CCACCAGTGCCAAAGCCTCCAG	0.599																																					Pancreas(190;284 2995 41444 45903)												0			12																																								51493870	SO:0001589	frameshift_variant	3851				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.240_241insC	12.37:g.53207602_53207603insG	ENSP00000448220:p.Gly81fs	Somatic		Capture	Illumina HiSeq	Phase_I	51493869	F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Frame_Shift_Ins	INS	ENST00000551956.1	37	CCDS41787.2																																																																																				KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272	
POLI	11201	hgsc.bcm.edu	37	18	51795958	51795960	+	In_Frame_Del	DEL	CGA	CGA	-	rs78943519|rs10584411|rs3729509	byFrequency	TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	CGA	CGA					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr18:51795958_51795960delCGA	ENST00000579534.1	+	1	185_187	c.42_44delCGA	c.(40-45)ggcgac>ggc	p.D17del	POLI_ENST00000406285.3_In_Frame_Del_p.D17del|POLI_ENST00000217800.5_5'Flank|POLI_ENST00000579434.1_5'UTR	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	17					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.D17delD(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AAGGCGGCGGCGACGACGACGAG	0.729								DNA polymerases (catalytic subunits)						3926	0.783946	0.9705	0.6427	5008	,	,		12312	0.7054		0.7078	False		,,,				2504	0.7914																1	Deletion - In frame(1)	large_intestine(1)	18								3523,343		1644,235,54						1.5	0.0		dbSNP_119	14	5235,2405		1985,1265,570	no	coding	POLI	NM_007195.2		3629,1500,624	A1A1,A1R,RR		31.4791,8.8722,23.8832				8758,2748				50049958	SO:0001651	inframe_deletion	11201				CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.42_44delCGA	18.37:g.51795967_51795969delCGA	ENSP00000462664:p.Asp17del	Somatic		Capture	Illumina HiSeq	Phase_I	50049956	Q8N590|Q9H0S1|Q9NYH6	In_Frame_Del	DEL	ENST00000579534.1	37	CCDS11954.2																																																																																				POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195	
DZANK1	55184	hgsc.bcm.edu	37	20	18393296	18393300	+	Frame_Shift_Del	DEL	CTGGG	CTGGG	-			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	CTGGG	CTGGG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr20:18393296_18393300delCTGGG	ENST00000358866.6	-	12	1444_1448	c.1422_1426delCCCAG	c.(1420-1428)agcccaggafs	p.SPG474fs	DZANK1_ENST00000329494.5_Frame_Shift_Del_p.SPG476fs|DZANK1_ENST00000357236.4_Frame_Shift_Del_p.SPG360fs|DZANK1_ENST00000262547.5_Frame_Shift_Del_p.SPG474fs|DZANK1_ENST00000487128.1_5'UTR			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	474							zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						TTACCTCTTCCTGGGCTGATGGCTG	0.459																																																	0			20																																								18341300	SO:0001589	frameshift_variant	55184			AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"""Ankyrin repeat domain containing"""	15858	protein-coding gene	gene with protein product	"""ankyrin repeat domain 64"""		"""chromosome 20 open reading frame 12"""	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.1422_1426delCCCAG	20.37:g.18393296_18393300delCTGGG	ENSP00000351734:p.Ser474fs	Somatic		Capture	Illumina HiSeq	Phase_I	18341296	B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Frame_Shift_Del	DEL	ENST00000358866.6	37	CCDS46582.1																																																																																				DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471926.1	NM_001099407	
KRTAP10-7	386675	hgsc.bcm.edu	37	21	46020656	46020670	+	In_Frame_Del	DEL	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG	-	rs36208679|rs60739860|rs373191083		TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr21:46020656_46020670delCTGCTGCGCCCCCAG	ENST00000380102.2	+	1	160_174	c.135_149delCTGCTGCGCCCCCAG	c.(133-150)ccctgctgcgcccccagc>ccc	p.CCAPS46del	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	46	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S50_P54delSCCAP(1)		breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC	0.698																																																	1	Deletion - In frame(1)	upper_aerodigestive_tract(1)	21							,	2258,1042		849,560,241					,	-0.7	1.0		dbSNP_126	22	6001,1123		2605,791,166	no	coding,intron	TSPEAR,KRTAP10-7	NM_198689.2,NM_144991.2	,	3454,1351,407	A1A1,A1R,RR		15.7636,31.5758,20.7694	,	,		8259,2165				44845098	SO:0001651	inframe_deletion	386675			AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.135_149delCTGCTGCGCCCCCAG	21.37:g.46020656_46020670delCTGCTGCGCCCCCAG	ENSP00000369445:p.Cys46_Ser50del	Somatic		Capture	Illumina HiSeq	Phase_I	44845084	Q0VDJ8|Q70LJ2	Frame_Shift_Del	DEL	ENST00000380102.2	37																																																																																					KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689	
GGT1	2678	hgsc.bcm.edu	37	22	25023869	25023869	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr22:25023869delA	ENST00000400382.1	+	13	2014	c.1259delA	c.(1258-1260)gaafs	p.E420fs	GGT1_ENST00000400383.1_Frame_Shift_Del_p.E420fs|GGT1_ENST00000403838.1_Frame_Shift_Del_p.E76fs|GGT1_ENST00000400380.1_Frame_Shift_Del_p.E420fs|GGT1_ENST00000248923.4_Frame_Shift_Del_p.E420fs|GGT1_ENST00000401885.1_Frame_Shift_Del_p.E76fs|GGT1_ENST00000406383.2_Frame_Shift_Del_p.E420fs|GGT1_ENST00000404532.1_Frame_Shift_Del_p.E76fs|GGT1_ENST00000404920.1_Frame_Shift_Del_p.E76fs|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000404223.1_Frame_Shift_Del_p.E76fs			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	420					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	TTCAATAATGAAATGGACGAC	0.612																																																	0			22											67.0	74.0	72.0					22																	25023869		2203	4300	6503	23353869	SO:0001589	frameshift_variant	2678			M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.1259delA	22.37:g.25023869delA	ENSP00000383232:p.Glu420fs	Somatic		Capture	Illumina HiSeq	Phase_I	23353869	Q08247|Q14404|Q8TBS1|Q9UMK1	Frame_Shift_Del	DEL	ENST00000400382.1	37	CCDS42992.1																																																																																				GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430	
VCX2	51480	hgsc.bcm.edu	37	X	8138165	8138168	+	Frame_Shift_Del	DEL	CCTC	CCTC	-	rs1058237|rs144469326	byFrequency	TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	CCTC	CCTC					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chrX:8138165_8138168delCCTC	ENST00000317103.4	-	3	631_634	c.325_328delGAGG	c.(325-330)gaggtgfs	p.EV109fs		NM_016378.2	NP_057462.2	Q9H322	VCX2_HUMAN	variable charge, X-linked 2	109	2 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.									endometrium(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				GGTTCTTCCACCTCGCTCTCCTGA	0.642																																																	0			X																																								8098168	SO:0001589	frameshift_variant	51480			AF159127	CCDS35200.1	Xp22.32	2008-02-05			ENSG00000177504	ENSG00000177504			18158	protein-coding gene	gene with protein product		300532				10607842	Standard	NM_016378		Approved	VCX-2r, VCX-2R	uc004csb.3	Q9H322	OTTHUMG00000021105	ENST00000317103.4:c.325_328delGAGG	X.37:g.8138165_8138168delCCTC	ENSP00000321309:p.Glu109fs	Somatic		Capture	Illumina HiSeq	Phase_I	8098165	A3KPB6|Q4V9T2|Q9P0H5	Frame_Shift_Del	DEL	ENST00000317103.4	37	CCDS35200.1																																																																																				VCX2-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055690.1	NM_016378	
FGD1	2245	hgsc.bcm.edu	37	X	54496631	54496632	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chrX:54496631_54496632insG	ENST00000375135.3	-	4	1651_1652	c.918_919insC	c.(916-921)cccagcfs	p.S307fs		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	307	Pro-rich.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGGCTGTGGCTGGGGGGCCCGT	0.658																																																	0			X																																								54513357	SO:0001589	frameshift_variant	2245			U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.919dupC	X.37:g.54496637_54496637dupG	ENSP00000364277:p.Ser307fs	Somatic		Capture	Illumina HiSeq	Phase_I	54513356	Q5H999|Q8N4D9	Frame_Shift_Ins	INS	ENST00000375135.3	37	CCDS14359.1																																																																																				FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463	
MAP2	4133	hgsc.bcm.edu	37	2	210561666	210561667	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr2:210561666_210561667insA	ENST00000360351.4	+	9	4919_4920	c.4413_4414insA	c.(4414-4416)aaafs	p.K1472fs	MAP2_ENST00000475600.1_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000447185.1_Frame_Shift_Ins_p.K1468fs	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	1472					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)	p.T1474fs*14(1)		breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	CTGAACTTGCTAAAAAAACAGA	0.366																																					Pancreas(27;423 979 28787 29963)												1	Deletion - Frameshift(1)	large_intestine(1)	2																																								210269912	SO:0001589	frameshift_variant	10988				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.4420dupA	2.37:g.210561673_210561673dupA	ENSP00000353508:p.Lys1472fs	Somatic		Capture	Illumina HiSeq	Phase_I	210269911	Q17S04|Q8IUX2|Q99975|Q99976	Frame_Shift_Ins	INS	ENST00000360351.4	37	CCDS2384.1																																																																																				MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256521.2	NM_001039538	
MUC4	4585	hgsc.bcm.edu	37	3	195508442	195508537	+	In_Frame_Del	DEL	CTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	CTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	-	rs568124972|rs545603027|rs200820395|rs535230509|rs200195189|rs574066429|rs201933946|rs374619108|rs200683272|rs76305071|rs568102602|rs553845624|rs566110482|rs146135943|rs201164988|rs71187746|rs141064104|rs199896372|rs368202391|rs62282476|rs541132330|rs150322486|rs201319965|rs148923966|rs537438050|rs549411987|rs531526881|rs540026448|rs534369822|rs80085168|rs202097189|rs201298940|rs549350827|rs113686997|rs201195860|rs543837546	byFrequency	TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	CTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	CTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr3:195508442_195508537delCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	ENST00000463781.3	-	2	10373_10468	c.9914_10009delTATCCACAGGTCACGCCACTCCTCTTCTTGTCACCGACGCTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAG	c.(9913-10011)gtatccacaggtcacgccactcctcttcttgtcaccgacgcttcctcagcatccacaggtcacgccacccctcttcatgtcaccagcccttcctcagca>gca	p.VSTGHATPLLVTDASSASTGHATPLHVTSPSS3305del	MUC4_ENST00000475231.1_In_Frame_Del_p.VSTGHATPLLVTDASSASTGHATPLHVTSPSS3305del|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_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)	p.D3317E(2)|p.H3325Q(2)|p.A3310T(2)|p.H3309D(2)|p.V3305A(1)|p.D3317N(1)|p.V3305_S3336delVSTGHATPLLVTDASSASTGHATPLHVTSPSS(1)|p.L3314P(1)|p.V3305_S3320delVSTGHATPLLVTDASS(1)|p.S3317R(1)		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)		CCTGTGGATGCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATACTGAGGAAGT	0.574																																																	14	Substitution - Missense(12)|Deletion - In frame(2)	stomach(11)|lung(2)|kidney(1)	3																																								196993316	SO:0001651	inframe_deletion	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.9914_10009delTATCCACAGGTCACGCCACTCCTCTTCTTGTCACCGACGCTTCCTCAGCATCCACAGGTCACGCCACCCCTCTTCATGTCACCAGCCCTTCCTCAG	3.37:g.195508442_195508537delCTGAGGAAGGGCTGGTGACATGAAGAGGGGTGGCGTGACCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	ENSP00000417498:p.Val3305_Ser3336del	Somatic		Capture	Illumina HiSeq	Phase_I	196993221	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
CRIPAK	285464	hgsc.bcm.edu	37	4	1389220	1389248	+	Frame_Shift_Del	DEL	TGGAGTGCCCGCCTGCTCACGTGCCCATA	TGGAGTGCCCGCCTGCTCACGTGCCCATA	-	rs1140009|rs200438890|rs141376932|rs550271289|rs150174653|rs145563943|rs547759244	byFrequency	TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	TGGAGTGCCCGCCTGCTCACGTGCCCATA	TGGAGTGCCCGCCTGCTCACGTGCCCATA					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr4:1389220_1389248delTGGAGTGCCCGCCTGCTCACGTGCCCATA	ENST00000324803.4	+	1	3881_3909	c.921_949delTGGAGTGCCCGCCTGCTCACGTGCCCATA	c.(919-951)cgtggagtgcccgcctgctcacgtgcccatatgfs	p.GVPACSRAHM308fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	308					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.P310fs*95(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CGTGCCGACGTGGAGTGCCCGCCTGCTCACGTGCCCATATGGAGTGCCC	0.668																																																	1	Deletion - Frameshift(1)	prostate(1)	4								1378,2876		542,294,1291						0.8	0.0			153	3662,4580		1557,548,2016	no	frameshift	CRIPAK	NM_175918.3		2099,842,3307	A1A1,A1R,RR		44.431,32.393,40.3329				5040,7456				1379248	SO:0001589	frameshift_variant	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.921_949delTGGAGTGCCCGCCTGCTCACGTGCCCATA	4.37:g.1389220_1389248delTGGAGTGCCCGCCTGCTCACGTGCCCATA	ENSP00000323978:p.Gly308fs	Somatic		Capture	Illumina HiSeq	Phase_I	1379220	Q8NB03	Frame_Shift_Del	DEL	ENST00000324803.4	37	CCDS3349.1																																																																																				CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
KIT	3815	hgsc.bcm.edu	37	4	55569914	55569915	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr4:55569914_55569915insG	ENST00000288135.5	+	5	878_879	c.781_782insG	c.(781-783)agcfs	p.S261fs		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	261	Ig-like C2-type 3.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAAATATAATAGCTGGCATCAC	0.342		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																														yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	0			4																																								55264672	SO:0001589	frameshift_variant	3815	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.782dupG	4.37:g.55569915_55569915dupG	ENSP00000288135:p.Ser261fs	Somatic		Capture	Illumina HiSeq	Phase_I	55264671	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Frame_Shift_Ins	INS	ENST00000288135.5	37	CCDS3496.1																																																																																				KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1		
APC	324	hgsc.bcm.edu	37	5	112175322	112175322	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr5:112175322delC	ENST00000457016.1	+	16	4411	c.4031delC	c.(4030-4032)tcafs	p.S1344fs	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Frame_Shift_Del_p.S1344fs|APC_ENST00000508376.2_Frame_Shift_Del_p.S1344fs			P25054	APC_HUMAN	adenomatous polyposis coli	1344	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.S1344*(2)|p.S1335fs*70(1)|p.K1192fs*3(1)|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)		AGTTTATCTTCAGAATCAGCC	0.473		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	Substitution - Nonsense(2)|Deletion - Frameshift(2)|Unknown(1)	large_intestine(3)|soft_tissue(1)|skin(1)	5											57.0	61.0	59.0					5																	112175322		2202	4300	6502	112203221	SO:0001589	frameshift_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.4031delC	5.37:g.112175322delC	ENSP00000413133:p.Ser1344fs	Somatic		Capture	Illumina HiSeq	Phase_I	112203221	D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Del	DEL	ENST00000457016.1	37	CCDS4107.1																																																																																				APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
KIAA1429	25962	hgsc.bcm.edu	37	8	95531470	95531470	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr8:95531470delA	ENST00000297591.5	-	9	2331	c.2256delT	c.(2254-2256)gttfs	p.V752fs	KIAA1429_ENST00000421249.2_Frame_Shift_Del_p.V752fs|KIAA1429_ENST00000437199.1_Frame_Shift_Del_p.V752fs	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	752					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CATCATCAATAACACCATCAG	0.398																																																	0			8											110.0	92.0	98.0					8																	95531470		2203	4300	6503	95600646	SO:0001589	frameshift_variant	25962			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.2256delT	8.37:g.95531470delA	ENSP00000297591:p.Val752fs	Somatic		Capture	Illumina HiSeq	Phase_I	95600646	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Frame_Shift_Del	DEL	ENST00000297591.5	37	CCDS34923.1																																																																																				KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378720.2	NM_015496	
ANKRD20A2	441430	hgsc.bcm.edu	37	9	42380186	42380189	+	Frame_Shift_Del	DEL	TACT	TACT	-			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	TACT	TACT					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr9:42380186_42380189delTACT	ENST00000377601.2	+	6	885_888	c.773_776delTACT	c.(772-777)atacttfs	p.IL258fs	ANKRD20A2_ENST00000477139.2_3'UTR|RNU6-1269P_ENST00000391139.1_RNA	NM_001012421.1	NP_001012421.1	Q5SQ80	A20A2_HUMAN	ankyrin repeat domain 20 family, member A2	258										large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	4						AAAAAGAAGATACTTAAAAAGGAG	0.255																																																	0			9																																								42370185	SO:0001589	frameshift_variant	441430				CCDS35028.1	9p12	2013-01-10			ENSG00000183148	ENSG00000183148		"""Ankyrin repeat domain containing"""	31979	protein-coding gene	gene with protein product							Standard	XM_005272519		Approved			Q5SQ80	OTTHUMG00000058641	ENST00000377601.2:c.773_776delTACT	9.37:g.42380186_42380189delTACT	ENSP00000366826:p.Ile258fs	Somatic		Capture	Illumina HiSeq	Phase_I	42370182		Frame_Shift_Del	DEL	ENST00000377601.2	37	CCDS35028.1																																																																																				ANKRD20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129794.1	NM_001012421	
TMEM52B	120939	hgsc.bcm.edu	37	12	10339027	10339028	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr12:10339027_10339028insG	ENST00000381923.2	+	5	550_551	c.146_147insG	c.(145-150)gtggtafs	p.V50fs	TMEM52B_ENST00000536952.1_Frame_Shift_Ins_p.V50fs|TMEM52B_ENST00000298530.3_Frame_Shift_Ins_p.V30fs			Q4KMG9	TM52B_HUMAN	transmembrane protein 52B	50						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											AGGTTGCTAGTGGTAATTGGCG	0.569																																																	0			12																																								10230295	SO:0001589	frameshift_variant	120939			AY358845	CCDS8619.1, CCDS66314.1	12p13.2	2012-08-15	2012-08-15	2012-08-15	ENSG00000165685	ENSG00000165685			26438	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 59"""	C12orf59		12975309	Standard	XM_005253299		Approved	FLJ31166	uc001qxq.3	Q4KMG9	OTTHUMG00000168410	ENST00000381923.2:c.148dupG	12.37:g.10339029_10339029dupG	ENSP00000371348:p.Val50fs	Somatic		Capture	Illumina HiSeq	Phase_I	10230294	Q96NA7	Frame_Shift_Ins	INS	ENST00000381923.2	37																																																																																					TMEM52B-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000399645.1	NM_153022	
KRT4	3851	hgsc.bcm.edu	37	12	53207602	53207603	+	Frame_Shift_Ins	INS	-	-	G	rs7135148|rs71092788		TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr12:53207602_53207603insG	ENST00000551956.1	-	1	732_733	c.240_241insC	c.(238-243)tttggcfs	p.G81fs	KRT4_ENST00000458244.2_Frame_Shift_Ins_p.G61fs|KRT4_ENST00000293774.4_Frame_Shift_Ins_p.G155fs			P19013	K2C4_HUMAN	keratin 4	81	Gly-rich.|Head.				cytoskeleton organization (GO:0007010)|epithelial cell differentiation (GO:0030855)|negative regulation of epithelial cell proliferation (GO:0050680)	cell surface (GO:0009986)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						CCACCAGTGCCAAAGCCTCCAG	0.599																																					Pancreas(190;284 2995 41444 45903)												0			12																																								51493870	SO:0001589	frameshift_variant	3851				CCDS41787.1, CCDS41787.2	12q13.13	2013-01-16			ENSG00000170477	ENSG00000170477		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6441	protein-coding gene	gene with protein product	"""cytokeratin 4"", ""keratin, type II cytoskeletal 4"""	123940		CYK4		16831889	Standard	NM_002272		Approved	CK4, K4	uc031qhk.1	P19013		ENST00000551956.1:c.240_241insC	12.37:g.53207602_53207603insG	ENSP00000448220:p.Gly81fs	Somatic		Capture	Illumina HiSeq	Phase_I	51493869	F8VS64|Q6GTR8|Q96LA7|Q9BTL1	Frame_Shift_Ins	INS	ENST00000551956.1	37	CCDS41787.2																																																																																				KRT4-001	KNOWN	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405931.1	NM_002272	
POLI	11201	hgsc.bcm.edu	37	18	51795958	51795960	+	In_Frame_Del	DEL	CGA	CGA	-	rs78943519|rs10584411|rs3729509	byFrequency	TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	CGA	CGA					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr18:51795958_51795960delCGA	ENST00000579534.1	+	1	185_187	c.42_44delCGA	c.(40-45)ggcgac>ggc	p.D17del	POLI_ENST00000406285.3_In_Frame_Del_p.D17del|POLI_ENST00000217800.5_5'Flank|POLI_ENST00000579434.1_5'UTR	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	17					DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)	intracellular (GO:0005622)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)	p.D17delD(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		AAGGCGGCGGCGACGACGACGAG	0.729								DNA polymerases (catalytic subunits)						3926	0.783946	0.9705	0.6427	5008	,	,		12312	0.7054		0.7078	False		,,,				2504	0.7914																1	Deletion - In frame(1)	large_intestine(1)	18								3523,343		1644,235,54						1.5	0.0		dbSNP_119	14	5235,2405		1985,1265,570	no	coding	POLI	NM_007195.2		3629,1500,624	A1A1,A1R,RR		31.4791,8.8722,23.8832				8758,2748				50049958	SO:0001651	inframe_deletion	11201				CCDS11954.2	18q21.1	2012-05-18			ENSG00000101751	ENSG00000101751		"""DNA polymerases"""	9182	protein-coding gene	gene with protein product		605252		RAD3OB, RAD30B		17609217	Standard	NM_007195		Approved		uc002lfj.4	Q9UNA4	OTTHUMG00000132704	ENST00000579534.1:c.42_44delCGA	18.37:g.51795967_51795969delCGA	ENSP00000462664:p.Asp17del	Somatic		Capture	Illumina HiSeq	Phase_I	50049956	Q8N590|Q9H0S1|Q9NYH6	In_Frame_Del	DEL	ENST00000579534.1	37	CCDS11954.2																																																																																				POLI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256002.3	NM_007195	
DZANK1	55184	hgsc.bcm.edu	37	20	18393296	18393300	+	Frame_Shift_Del	DEL	CTGGG	CTGGG	-			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	CTGGG	CTGGG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr20:18393296_18393300delCTGGG	ENST00000358866.6	-	12	1444_1448	c.1422_1426delCCCAG	c.(1420-1428)agcccaggafs	p.SPG474fs	DZANK1_ENST00000329494.5_Frame_Shift_Del_p.SPG476fs|DZANK1_ENST00000357236.4_Frame_Shift_Del_p.SPG360fs|DZANK1_ENST00000262547.5_Frame_Shift_Del_p.SPG474fs|DZANK1_ENST00000487128.1_5'UTR			Q9NVP4	DZAN1_HUMAN	double zinc ribbon and ankyrin repeat domains 1	474							zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(10)	19						TTACCTCTTCCTGGGCTGATGGCTG	0.459																																																	0			20																																								18341300	SO:0001589	frameshift_variant	55184			AK001462	CCDS46582.1	20p11.23	2013-01-11	2011-10-03	2011-10-03	ENSG00000089091	ENSG00000089091		"""Ankyrin repeat domain containing"""	15858	protein-coding gene	gene with protein product	"""ankyrin repeat domain 64"""		"""chromosome 20 open reading frame 12"""	C20orf84, C20orf12			Standard	NM_001099407		Approved	FLJ10600, dJ568F9.2, FLJ30892, bA189K21.8, ANKRD64	uc002wqq.4	Q9NVP4	OTTHUMG00000031968	ENST00000358866.6:c.1422_1426delCCCAG	20.37:g.18393296_18393300delCTGGG	ENSP00000351734:p.Ser474fs	Somatic		Capture	Illumina HiSeq	Phase_I	18341296	B7ZLZ4|Q4F7X1|Q5QPD9|Q5QPE0|Q68DN8|Q6ZMX9|Q96NF0|Q9H1E0|Q9H442	Frame_Shift_Del	DEL	ENST00000358866.6	37	CCDS46582.1																																																																																				DZANK1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000471926.1	NM_001099407	
KRTAP10-7	386675	hgsc.bcm.edu	37	21	46020656	46020670	+	In_Frame_Del	DEL	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG	-	rs36208679|rs60739860|rs373191083		TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr21:46020656_46020670delCTGCTGCGCCCCCAG	ENST00000380102.2	+	1	160_174	c.135_149delCTGCTGCGCCCCCAG	c.(133-150)ccctgctgcgcccccagc>ccc	p.CCAPS46del	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	46	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S50_P54delSCCAP(1)		breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC	0.698																																																	1	Deletion - In frame(1)	upper_aerodigestive_tract(1)	21							,	2258,1042		849,560,241					,	-0.7	1.0		dbSNP_126	22	6001,1123		2605,791,166	no	coding,intron	TSPEAR,KRTAP10-7	NM_198689.2,NM_144991.2	,	3454,1351,407	A1A1,A1R,RR		15.7636,31.5758,20.7694	,	,		8259,2165				44845098	SO:0001651	inframe_deletion	386675			AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.135_149delCTGCTGCGCCCCCAG	21.37:g.46020656_46020670delCTGCTGCGCCCCCAG	ENSP00000369445:p.Cys46_Ser50del	Somatic		Capture	Illumina HiSeq	Phase_I	44845084	Q0VDJ8|Q70LJ2	Frame_Shift_Del	DEL	ENST00000380102.2	37																																																																																					KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689	
GGT1	2678	hgsc.bcm.edu	37	22	25023869	25023869	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chr22:25023869delA	ENST00000400382.1	+	13	2014	c.1259delA	c.(1258-1260)gaafs	p.E420fs	GGT1_ENST00000400383.1_Frame_Shift_Del_p.E420fs|GGT1_ENST00000403838.1_Frame_Shift_Del_p.E76fs|GGT1_ENST00000400380.1_Frame_Shift_Del_p.E420fs|GGT1_ENST00000248923.4_Frame_Shift_Del_p.E420fs|GGT1_ENST00000401885.1_Frame_Shift_Del_p.E76fs|GGT1_ENST00000406383.2_Frame_Shift_Del_p.E420fs|GGT1_ENST00000404532.1_Frame_Shift_Del_p.E76fs|GGT1_ENST00000404920.1_Frame_Shift_Del_p.E76fs|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000404223.1_Frame_Shift_Del_p.E76fs			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	420					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	TTCAATAATGAAATGGACGAC	0.612																																																	0			22											67.0	74.0	72.0					22																	25023869		2203	4300	6503	23353869	SO:0001589	frameshift_variant	2678			M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.1259delA	22.37:g.25023869delA	ENSP00000383232:p.Glu420fs	Somatic		Capture	Illumina HiSeq	Phase_I	23353869	Q08247|Q14404|Q8TBS1|Q9UMK1	Frame_Shift_Del	DEL	ENST00000400382.1	37	CCDS42992.1																																																																																				GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430	
VCX2	51480	hgsc.bcm.edu	37	X	8138165	8138168	+	Frame_Shift_Del	DEL	CCTC	CCTC	-	rs1058237|rs144469326	byFrequency	TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	CCTC	CCTC					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chrX:8138165_8138168delCCTC	ENST00000317103.4	-	3	631_634	c.325_328delGAGG	c.(325-330)gaggtgfs	p.EV109fs		NM_016378.2	NP_057462.2	Q9H322	VCX2_HUMAN	variable charge, X-linked 2	109	2 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.									endometrium(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				GGTTCTTCCACCTCGCTCTCCTGA	0.642																																																	0			X																																								8098168	SO:0001589	frameshift_variant	51480			AF159127	CCDS35200.1	Xp22.32	2008-02-05			ENSG00000177504	ENSG00000177504			18158	protein-coding gene	gene with protein product		300532				10607842	Standard	NM_016378		Approved	VCX-2r, VCX-2R	uc004csb.3	Q9H322	OTTHUMG00000021105	ENST00000317103.4:c.325_328delGAGG	X.37:g.8138165_8138168delCCTC	ENSP00000321309:p.Glu109fs	Somatic		Capture	Illumina HiSeq	Phase_I	8098165	A3KPB6|Q4V9T2|Q9P0H5	Frame_Shift_Del	DEL	ENST00000317103.4	37	CCDS35200.1																																																																																				VCX2-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055690.1	NM_016378	
FGD1	2245	hgsc.bcm.edu	37	X	54496631	54496632	+	Frame_Shift_Ins	INS	-	-	G			TCGA-DY-A1DD-01A-21D-A152-10	TCGA-DY-A1DD-10A-01D-A152-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	f55580c3-a0a4-49b5-af2e-ceebd2d81a18	7bf87d5b-d789-4e0e-8f98-ef00836053a3	g.chrX:54496631_54496632insG	ENST00000375135.3	-	4	1651_1652	c.918_919insC	c.(916-921)cccagcfs	p.S307fs		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	307	Pro-rich.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGGCTGTGGCTGGGGGGCCCGT	0.658																																																	0			X																																								54513357	SO:0001589	frameshift_variant	2245			U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.919dupC	X.37:g.54496637_54496637dupG	ENSP00000364277:p.Ser307fs	Somatic		Capture	Illumina HiSeq	Phase_I	54513356	Q5H999|Q8N4D9	Frame_Shift_Ins	INS	ENST00000375135.3	37	CCDS14359.1																																																																																				FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056801.1	NM_004463	
