#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ADAM23	8745	hgsc.bcm.edu	37	2	207424812	207424812	+	Missense_Mutation	SNP	A	A	T			TCGA-CJ-4888-01A-01D-1373-10	TCGA-CJ-4888-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2775365d-ec36-4bf9-91bc-1f2d37115097	375eb186-4071-4975-aaf7-8543b63f4829	g.chr2:207424812A>T	ENST00000264377.3	+	11	1467	c.1139A>T	c.(1138-1140)aAg>aTg	p.K380M	ADAM23_ENST00000374415.3_Missense_Mutation_p.K380M|ADAM23_ENST00000374416.1_Missense_Mutation_p.K380M	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	380	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				cell adhesion (GO:0007155)|central nervous system development (GO:0007417)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CAGCGCATTAAGCAGCATGCT	0.473																																					Melanoma(194;1127 2130 19620 24042 27855)												0													116.0	91.0	99.0					2																	207424812		2203	4300	6503	SO:0001583	missense	8745			AB009672	CCDS2369.1	2q33	2008-06-12	2005-08-18		ENSG00000114948	ENSG00000114948		"""ADAM metallopeptidase domain containing"""	202	protein-coding gene	gene with protein product		603710	"""a disintegrin and metalloproteinase domain 23"""			9693107	Standard	NM_003812		Approved	MDC3	uc002vbq.4	O75077	OTTHUMG00000132919	ENST00000264377.3:c.1139A>T	2.37:g.207424812A>T	ENSP00000264377:p.Lys380Met	Somatic		WXS	SOLID	Phase_I	A2RU59	Missense_Mutation	SNP	ENST00000264377.3	37	CCDS2369.1	.	.	.	.	.	.	.	.	.	.	A	15.20	2.762270	0.49468	.	.	ENSG00000114948	ENST00000264377;ENST00000374416;ENST00000431817;ENST00000374415	T;T;T	0.09255	3.0;3.0;3.0	5.64	3.15	0.36227	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.189972	0.36134	N	0.002764	T	0.25494	0.0620	L	0.60455	1.87	0.43536	D	0.99582	D	0.57899	0.981	D	0.64321	0.924	T	0.00127	-1.2019	10	0.87932	D	0	.	12.0194	0.53333	0.8639:0.0:0.1361:0.0	.	380	O75077	ADA23_HUMAN	M	380;380;274;380	ENSP00000264377:K380M;ENSP00000363537:K380M;ENSP00000363536:K380M	ENSP00000264377:K380M	K	+	2	0	ADAM23	207133057	1.000000	0.71417	0.988000	0.46212	0.716000	0.41182	4.139000	0.58024	0.052000	0.16007	-1.447000	0.01057	AAG		0.473	ADAM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256431.2		NM_003812	
APLP1	333	hgsc.bcm.edu	37	19	36370070	36370070	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4888-01A-01D-1373-10	TCGA-CJ-4888-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2775365d-ec36-4bf9-91bc-1f2d37115097	375eb186-4071-4975-aaf7-8543b63f4829	g.chr19:36370070T>G	ENST00000221891.4	+	16	2000	c.1808T>G	c.(1807-1809)cTc>cGc	p.L603R	APLP1_ENST00000586861.1_Missense_Mutation_p.L596R|APLP1_ENST00000537454.2_Missense_Mutation_p.L563R|RN7SL402P_ENST00000465059.1_RNA	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	602					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular response to norepinephrine stimulus (GO:0071874)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|mRNA polyadenylation (GO:0006378)|negative regulation of cAMP biosynthetic process (GO:0030818)|nervous system development (GO:0007399)|organ morphogenesis (GO:0009887)|regulation of translation (GO:0006417)	basement membrane (GO:0005604)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|alpha-2B adrenergic receptor binding (GO:0031695)|alpha-2C adrenergic receptor binding (GO:0031696)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|transition metal ion binding (GO:0046914)			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCATGCTGCTCCTGCGCAGG	0.652																																																	0													58.0	59.0	59.0					19																	36370070		2203	4300	6503	SO:0001583	missense	333			U48437	CCDS32997.1	19q	2008-07-15							597	protein-coding gene	gene with protein product	"""amyloid-like protein 1"", ""amyloid precursor-like protein 1"""	104775				8432545	Standard	NM_001024807		Approved	APLP	uc002ocf.3	P51693		ENST00000221891.4:c.1808T>G	19.37:g.36370070T>G	ENSP00000221891:p.Leu603Arg	Somatic		WXS	SOLID	Phase_I	O00113|Q96A92	Missense_Mutation	SNP	ENST00000221891.4	37	CCDS32997.1	.	.	.	.	.	.	.	.	.	.	T	21.7	4.189023	0.78789	.	.	ENSG00000105290	ENST00000537454;ENST00000221891	D;D	0.96856	-4.15;-4.15	5.06	5.06	0.68205	Beta-amyloid precursor protein C-terminal (1);	0.451078	0.16367	N	0.217504	D	0.96929	0.8997	L	0.50333	1.59	0.52501	D	0.999959	D;D;D;D	0.76494	0.996;0.997;0.999;0.999	D;D;D;D	0.71184	0.948;0.956;0.965;0.972	D	0.96565	0.9418	10	0.87932	D	0	-19.6582	11.2346	0.48933	0.0:0.0:0.0:1.0	.	596;563;603;602	B7Z4G8;F5GZ08;P51693-2;P51693	.;.;.;APLP1_HUMAN	R	563;603	ENSP00000441501:L563R;ENSP00000221891:L603R	ENSP00000221891:L603R	L	+	2	0	APLP1	41061910	1.000000	0.71417	0.955000	0.39395	0.947000	0.59692	6.769000	0.74985	1.893000	0.54813	0.533000	0.62120	CTC		0.652	APLP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452564.1		NM_001024807	
C1orf86	199990	hgsc.bcm.edu	37	1	2121164	2121164	+	Missense_Mutation	SNP	T	T	G			TCGA-CJ-4888-01A-01D-1373-10	TCGA-CJ-4888-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2775365d-ec36-4bf9-91bc-1f2d37115097	375eb186-4071-4975-aaf7-8543b63f4829	g.chr1:2121164T>G	ENST00000378546.4	-	4	551	c.527A>C	c.(526-528)gAa>gCa	p.E176A	AL590822.2_ENST00000597060.1_5'Flank|C1orf86_ENST00000487186.1_5'UTR|C1orf86_ENST00000378545.3_Missense_Mutation_p.E279A|C1orf86_ENST00000400919.3_5'UTR	NM_182533.2	NP_872339	Q6NZ36	FAP20_HUMAN	chromosome 1 open reading frame 86	176				ED -> KN (in Ref. 2; AAQ04817). {ECO:0000305}.	cellular response to DNA damage stimulus (GO:0006974)|interstrand cross-link repair (GO:0036297)|translesion synthesis (GO:0019985)	cell junction (GO:0030054)|chromosome (GO:0005694)|Fanconi anaemia nuclear complex (GO:0043240)|nucleus (GO:0005634)	K63-linked polyubiquitin binding (GO:0070530)|metal ion binding (GO:0046872)|polyubiquitin binding (GO:0031593)|ubiquitin binding (GO:0043130)			central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CGTCACGTCTTCTGTGCTTTC	0.697																																																	0													69.0	55.0	59.0					1																	2121164		2203	4300	6503	SO:0001583	missense	199990			AK126870	CCDS38.2, CCDS57965.1, CCDS72686.1, CCDS72687.1	1p36.33	2013-05-22			ENSG00000162585	ENSG00000162585			26428	protein-coding gene	gene with protein product		615183				14702039	Standard	NM_182533		Approved	FLJ31031, FAAP20	uc031pkt.1	Q6NZ36	OTTHUMG00000001404	ENST00000378546.4:c.527A>C	1.37:g.2121164T>G	ENSP00000367808:p.Glu176Ala	Somatic		WXS	SOLID	Phase_I	A6PW39|A6PW40|A6PW41|A8MQT6|F2Z2L4|Q6ZT64|Q71M24|Q96ND7	Missense_Mutation	SNP	ENST00000378546.4	37	CCDS38.2	.	.	.	.	.	.	.	.	.	.	T	14.35	2.509474	0.44660	.	.	ENSG00000162585	ENST00000378546;ENST00000378545	T;T	0.54071	0.64;0.59	5.55	5.55	0.83447	.	0.935050	0.08854	N	0.884017	T	0.59689	0.2212	.	.	.	0.09310	N	1	D	0.54207	0.965	P	0.50970	0.655	T	0.52200	-0.8607	9	0.62326	D	0.03	-4.7049	10.2007	0.43082	0.1483:0.0:0.0:0.8517	.	176	Q6NZ36	CA086_HUMAN	A	176;279	ENSP00000367808:E176A;ENSP00000367807:E279A	ENSP00000367807:E279A	E	-	2	0	C1orf86	2111024	0.192000	0.23301	0.019000	0.16419	0.051000	0.14879	1.753000	0.38359	2.124000	0.65301	0.374000	0.22700	GAA		0.697	C1orf86-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316541.1		NM_182533	
DNM1P46	196968	hgsc.bcm.edu	37	15	100340159	100340159	+	RNA	SNP	T	T	G	rs12910758	byFrequency	TCGA-CJ-4888-01A-01D-1373-10	TCGA-CJ-4888-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2775365d-ec36-4bf9-91bc-1f2d37115097	375eb186-4071-4975-aaf7-8543b63f4829	g.chr15:100340159T>G	ENST00000341853.1	-	0	767					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										CTCTGCCGACTCCTCCAGGAG	0.607																																																	0													17.0	17.0	17.0					15																	100340159		1497	3525	5022			196968			AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100340159T>G		Somatic		WXS	SOLID	Phase_I	Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																					0.607	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1		NR_003260	
F2	2147	hgsc.bcm.edu	37	11	46751085	46751085	+	Missense_Mutation	SNP	G	G	T	rs143064939	byFrequency	TCGA-CJ-4888-01A-01D-1373-10	TCGA-CJ-4888-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2775365d-ec36-4bf9-91bc-1f2d37115097	375eb186-4071-4975-aaf7-8543b63f4829	g.chr11:46751085G>T	ENST00000311907.5	+	12	1684	c.1628G>T	c.(1627-1629)cGc>cTc	p.R543L	F2_ENST00000530231.1_Missense_Mutation_p.R504L	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	543	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell surface receptor signaling pathway (GO:0007166)|cellular protein metabolic process (GO:0044267)|cytosolic calcium ion homeostasis (GO:0051480)|fibrinolysis (GO:0042730)|leukocyte migration (GO:0050900)|multicellular organismal development (GO:0007275)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of platelet activation (GO:0010544)|negative regulation of proteolysis (GO:0045861)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C-activating G-protein coupled receptor signaling pathway (GO:1900738)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of blood coagulation (GO:0030193)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|thrombospondin receptor activity (GO:0070053)			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|ART-123(DB05777)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Dabigatran etexilate(DB06695)|Drotrecogin alfa(DB00055)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Suramin(DB04786)|Ximelagatran(DB04898)	ACCCGGATCCGCATCACTGAC	0.612													G|||	6	0.00119808	0.0	0.0086	5008	,	,		18272	0.0		0.0	False		,,,				2504	0.0				Esophageal Squamous(147;1147 1808 2148 38609 51144)												0								G	LEU/ARG	4,4398	8.1+/-20.4	0,4,2197	89.0	75.0	80.0		1628	3.2	1.0	11	dbSNP_134	80	1,8597	1.2+/-3.3	0,1,4298	yes	missense	F2	NM_000506.3	102	0,5,6495	TT,TG,GG		0.0116,0.0909,0.0385	probably-damaging	543/623	46751085	5,12995	2201	4299	6500	SO:0001583	missense	2147			M33031	CCDS31476.1	11p11.2	2013-02-28			ENSG00000180210	ENSG00000180210	3.4.21.5	"""Endogenous ligands"""	3535	protein-coding gene	gene with protein product	"""prepro-coagulation factor II"""	176930					Standard	NM_000506		Approved		uc001ndf.4	P00734	OTTHUMG00000150344	ENST00000311907.5:c.1628G>T	11.37:g.46751085G>T	ENSP00000308541:p.Arg543Leu	Somatic		WXS	SOLID	Phase_I	B2R7F7|B4E1A7|Q4QZ40|Q53H04|Q53H06|Q69EZ7|Q7Z7P3|Q9UCA1	Missense_Mutation	SNP	ENST00000311907.5	37	CCDS31476.1	6	0.0027472527472527475	0	0.0	6	0.016574585635359115	0	0.0	0	0.0	G	21.9	4.219651	0.79464	9.09E-4	1.16E-4	ENSG00000180210	ENST00000311907;ENST00000530231	D;D	0.89123	-2.47;-2.47	5.46	3.21	0.36854	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.210302	0.44902	D	0.000418	T	0.73040	0.3536	N	0.05158	-0.105	0.38187	D	0.93979	D	0.59357	0.985	P	0.62560	0.904	T	0.80596	-0.1312	10	0.87932	D	0	.	4.3614	0.11205	0.4473:0.0:0.5527:0.0	.	543	P00734	THRB_HUMAN	L	543;504	ENSP00000308541:R543L;ENSP00000433907:R504L	ENSP00000308541:R543L	R	+	2	0	F2	46707661	0.931000	0.31567	0.986000	0.45419	0.961000	0.63080	1.506000	0.35747	1.438000	0.47492	0.655000	0.94253	CGC		0.612	F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317706.1			
GPR78	27201	hgsc.bcm.edu	37	4	8582799	8582799	+	Silent	SNP	C	C	T	rs138084089	byFrequency	TCGA-CJ-4888-01A-01D-1373-10	TCGA-CJ-4888-11A-01D-1373-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2775365d-ec36-4bf9-91bc-1f2d37115097	375eb186-4071-4975-aaf7-8543b63f4829	g.chr4:8582799C>T	ENST00000382487.4	+	1	507	c.90C>T	c.(88-90)tgC>tgT	p.C30C	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	30					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.C30C(1)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						TGCTTTGTTGCGCCTACAGCG	0.677																																																	1	Substitution - coding silent(1)	central_nervous_system(1)						C		4,4400	8.1+/-20.4	0,4,2198	35.0	38.0	37.0		90	0.7	0.8	4	dbSNP_134	37	0,8600		0,0,4300	no	coding-synonymous	GPR78	NM_080819.2		0,4,6498	TT,TC,CC		0.0,0.0908,0.0308		30/364	8582799	4,13000	2202	4300	6502	SO:0001819	synonymous_variant	27201			AF411107	CCDS3403.1	4p16.1	2012-08-21			ENSG00000155269	ENSG00000155269		"""GPCR / Class A : Orphans"""	4528	protein-coding gene	gene with protein product		606921				11574155	Standard	NM_080819		Approved		uc003glk.4	Q96P69	OTTHUMG00000128483	ENST00000382487.4:c.90C>T	4.37:g.8582799C>T		Somatic		WXS	SOLID	Phase_I	Q8NGV3	Silent	SNP	ENST00000382487.4	37	CCDS3403.1																																																																																				0.677	GPR78-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359201.1			
FAT4	79633	hgsc.bcm.edu	37	4	126241253	126241253	+	Silent	SNP	G	G	C	rs7657251	byFrequency	TCGA-CJ-4888-01A-01D-1373-10	TCGA-CJ-4888-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2775365d-ec36-4bf9-91bc-1f2d37115097	375eb186-4071-4975-aaf7-8543b63f4829	g.chr4:126241253G>C	ENST00000394329.3	+	1	3700	c.3687G>C	c.(3685-3687)gtG>gtC	p.V1229V		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1229	Cadherin 12. {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						TGACACAAGTGTTAAGAGTAT	0.318													G|||	322	0.0642971	0.0688	0.0648	5008	,	,		21164	0.001		0.1322	False		,,,				2504	0.0532																0								G		288,3390		10,268,1561	46.0	45.0	45.0		3687	-3.9	0.7	4	dbSNP_116	45	1044,7128		66,912,3108	no	coding-synonymous	FAT4	NM_024582.4		76,1180,4669	CC,CG,GG		12.7753,7.8303,11.2405		1229/4982	126241253	1332,10518	1839	4086	5925	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.3687G>C	4.37:g.126241253G>C		Somatic		WXS	SOLID	Phase_I	A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Silent	SNP	ENST00000394329.3	37	CCDS3732.3																																																																																				0.318	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2		NM_024582	
HLA-B	3106	hgsc.bcm.edu	37	6	31323254	31323254	+	Silent	SNP	G	G	C	rs61759952	byFrequency	TCGA-CJ-4888-01A-01D-1373-10	TCGA-CJ-4888-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2775365d-ec36-4bf9-91bc-1f2d37115097	375eb186-4071-4975-aaf7-8543b63f4829	g.chr6:31323254G>C	ENST00000412585.2	-	4	763	c.735C>G	c.(733-735)ggC>ggG	p.G245G		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	245	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TTTGGTCCTCGCCATCCCGCT	0.602									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				G|||	309	0.0617013	0.0507	0.0591	5008	,	,		21808	0.119		0.0487	False		,,,				2504	0.0327																0													105.0	93.0	97.0					6																	31323254		2203	4300	6503	SO:0001819	synonymous_variant	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.735C>G	6.37:g.31323254G>C		Somatic		WXS	SOLID	Phase_I	Q29764	Silent	SNP	ENST00000412585.2	37	CCDS34394.1																																																																																				0.602	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4		NM_005514	
NOTCH1	4851	hgsc.bcm.edu	37	9	139391324	139391324	+	Missense_Mutation	SNP	G	G	C			TCGA-CJ-4888-01A-01D-1373-10	TCGA-CJ-4888-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2775365d-ec36-4bf9-91bc-1f2d37115097	375eb186-4071-4975-aaf7-8543b63f4829	g.chr9:139391324G>C	ENST00000277541.6	-	34	6942	c.6867C>G	c.(6865-6867)agC>agG	p.S2289R		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2289					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S2290R(1)|p.K2182fs*61(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCCCTCCGCTGCTGGAGCCCA	0.672			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	2	Substitution - Missense(1)|Deletion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(2)											22.0	27.0	25.0					9																	139391324		2038	4168	6206	SO:0001583	missense	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.6867C>G	9.37:g.139391324G>C	ENSP00000277541:p.Ser2289Arg	Somatic		WXS	SOLID	Phase_I	Q59ED8|Q5SXM3	Missense_Mutation	SNP	ENST00000277541.6	37	CCDS43905.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.961759	0.00461	.	.	ENSG00000148400	ENST00000277541	D	0.82081	-1.57	3.67	-3.83	0.04269	.	1.751630	0.03507	N	0.219026	T	0.69043	0.3067	N	0.14661	0.345	0.09310	N	1	B	0.23735	0.09	B	0.24006	0.05	T	0.55661	-0.8106	10	0.25106	T	0.35	.	9.9064	0.41379	0.6686:0.0:0.3314:0.0	.	2289	P46531	NOTC1_HUMAN	R	2289	ENSP00000277541:S2289R	ENSP00000277541:S2289R	S	-	3	2	NOTCH1	138511145	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.518000	0.06267	-0.866000	0.04068	-0.142000	0.14014	AGC		0.672	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1		NM_017617	
TENM1	10178	hgsc.bcm.edu	37	X	123554562	123554562	+	Silent	SNP	G	G	A			TCGA-CJ-4888-01A-01D-1373-10	TCGA-CJ-4888-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2775365d-ec36-4bf9-91bc-1f2d37115097	375eb186-4071-4975-aaf7-8543b63f4829	g.chrX:123554562G>A	ENST00000371130.3	-	24	4623	c.4560C>T	c.(4558-4560)acC>acT	p.T1520T	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Silent_p.T1527T	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	1520					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TCCTGCTGATGGTACGAATTC	0.488																																																	0													138.0	111.0	121.0					X																	123554562		2203	4300	6503	SO:0001819	synonymous_variant	0			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.4560C>T	X.37:g.123554562G>A		Somatic		WXS	SOLID	Phase_I	B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	CCDS14609.1																																																																																				0.488	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1		NM_014253	
OSGEPL1	64172	hgsc.bcm.edu	37	2	190618708	190618708	+	Missense_Mutation	SNP	T	T	G	rs550461835		TCGA-CJ-4888-01A-01D-1373-10	TCGA-CJ-4888-11A-01D-1373-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2775365d-ec36-4bf9-91bc-1f2d37115097	375eb186-4071-4975-aaf7-8543b63f4829	g.chr2:190618708T>G	ENST00000264151.5	-	5	999	c.897A>C	c.(895-897)aaA>aaC	p.K299N	Y_RNA_ENST00000411317.1_RNA|OSGEPL1_ENST00000522700.1_Missense_Mutation_p.K299N|OSGEPL1_ENST00000519810.1_Missense_Mutation_p.K299N	NM_022353.2	NP_071748.2			O-sialoglycoprotein endopeptidase-like 1											large_intestine(2)|upper_aerodigestive_tract(1)	3			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0293)|all cancers(119;0.0831)			GATGTGTTCTTTTCACAAGAT	0.403																																																	0													71.0	70.0	70.0					2																	190618708		1915	4122	6037	SO:0001583	missense	64172			AJ295148	CCDS46472.1	2q32	2011-08-12			ENSG00000128694	ENSG00000128694			23075	protein-coding gene	gene with protein product						19578062	Standard	NM_022353		Approved	Qri7	uc002uqz.1	Q9H4B0	OTTHUMG00000164096	ENST00000264151.5:c.897A>C	2.37:g.190618708T>G	ENSP00000264151:p.Lys299Asn	Somatic		WXS	SOLID	Phase_I		Missense_Mutation	SNP	ENST00000264151.5	37	CCDS46472.1	.	.	.	.	.	.	.	.	.	.	T	10.31	1.313788	0.23908	.	.	ENSG00000128694	ENST00000264151;ENST00000519810;ENST00000522700;ENST00000520350	T;T;T;T	0.43688	2.36;2.36;2.36;0.94	5.2	1.58	0.23477	Peptidase M22, glycoprotease (1);	0.184523	0.56097	D	0.000021	T	0.31327	0.0793	L	0.40543	1.245	0.40436	D	0.979999	P	0.43885	0.82	B	0.43445	0.42	T	0.06552	-1.0820	10	0.18276	T	0.48	-19.4995	8.0405	0.30519	0.0:0.4888:0.0:0.5112	.	299	Q9H4B0	OSGP2_HUMAN	N	299;299;299;152	ENSP00000264151:K299N;ENSP00000428859:K299N;ENSP00000429697:K299N;ENSP00000430062:K152N	ENSP00000264151:K299N	K	-	3	2	OSGEPL1	190326953	0.983000	0.35010	0.970000	0.41538	0.375000	0.29983	0.218000	0.17622	0.187000	0.20147	-0.256000	0.11100	AAA		0.403	OSGEPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377257.1		NM_022353	
SLC22A18	5002	hgsc.bcm.edu	37	11	2946407	2946407	+	Missense_Mutation	SNP	A	A	G			TCGA-CJ-4888-01A-01D-1373-10	TCGA-CJ-4888-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2775365d-ec36-4bf9-91bc-1f2d37115097	375eb186-4071-4975-aaf7-8543b63f4829	g.chr11:2946407A>G	ENST00000380574.1	+	11	1686	c.1255A>G	c.(1255-1257)Agg>Ggg	p.R419G	SLC22A18_ENST00000347936.2_Missense_Mutation_p.R419G|SLC22A18_ENST00000441077.1_3'UTR|SLC22A18_ENST00000312221.5_Missense_Mutation_p.R419G|SLC22A18_ENST00000449793.2_Missense_Mutation_p.R321G			Q96BI1	S22AI_HUMAN	solute carrier family 22, member 18	419					drug transmembrane transport (GO:0006855)|drug transport (GO:0015893)|excretion (GO:0007588)|organic cation transport (GO:0015695)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	drug transmembrane transporter activity (GO:0015238)|symporter activity (GO:0015293)|ubiquitin protein ligase binding (GO:0031625)	p.R419W(1)		central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		TATGCCCCAGAGGAAGGACAA	0.582																																																	1	Substitution - Missense(1)	ovary(1)											73.0	63.0	66.0					11																	2946407		2202	4299	6501	SO:0001583	missense	5002			AF028738	CCDS7740.1	11p15.5	2013-05-22	2008-01-11	2004-01-21	ENSG00000110628	ENSG00000110628		"""Solute carriers"""	10964	protein-coding gene	gene with protein product		602631	"""solute carrier family 22 (organic cation transporter), member 1-like"""	ORCTL2, BWSCR1A, IMPT1, SLC22A1L		9499412, 9520460	Standard	NM_183233		Approved	BWR1A, TSSC5, ITM	uc001lwx.3	Q96BI1	OTTHUMG00000010037	ENST00000380574.1:c.1255A>G	11.37:g.2946407A>G	ENSP00000369948:p.Arg419Gly	Somatic		WXS	SOLID	Phase_I	O14906|O43562|O60485|O60680|Q7LDS5|Q7LGF7	Missense_Mutation	SNP	ENST00000380574.1	37	CCDS7740.1	.	.	.	.	.	.	.	.	.	.	A	13.01	2.110324	0.37242	.	.	ENSG00000110628	ENST00000347936;ENST00000312221;ENST00000449793;ENST00000380574	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	4.65	-0.429	0.12303	Major facilitator superfamily domain, general substrate transporter (1);	0.927475	0.09025	N	0.859547	T	0.73118	0.3546	L	0.29908	0.895	0.09310	N	1	P;B	0.38677	0.642;0.425	B;B	0.40741	0.339;0.131	T	0.63251	-0.6679	10	0.72032	D	0.01	-11.6071	4.8757	0.13655	0.6114:0.1478:0.2408:0.0	.	321;419	E9PRM7;Q96BI1	.;S22AI_HUMAN	G	419;419;321;419	ENSP00000307859:R419G;ENSP00000311139:R419G;ENSP00000392072:R321G;ENSP00000369948:R419G	ENSP00000311139:R419G	R	+	1	2	SLC22A18	2902983	0.000000	0.05858	0.001000	0.08648	0.092000	0.18411	1.040000	0.30278	-0.104000	0.12154	-0.375000	0.07067	AGG		0.582	SLC22A18-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027770.1		NM_183233	
SULT1C2	6819	hgsc.bcm.edu	37	2	108910186	108910186	+	Silent	SNP	G	G	T			TCGA-CJ-4888-01A-01D-1373-10	TCGA-CJ-4888-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2775365d-ec36-4bf9-91bc-1f2d37115097	375eb186-4071-4975-aaf7-8543b63f4829	g.chr2:108910186G>T	ENST00000437390.2	+	2	240	c.63G>T	c.(61-63)ctG>ctT	p.L21L	SULT1C2_ENST00000326853.5_Silent_p.L21L|SULT1C2_ENST00000251481.6_Silent_p.L21L|SULT1C2_ENST00000492554.1_3'UTR|SULT1C2_ENST00000409880.1_Silent_p.L21L			O75897	ST1C4_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	27					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|small molecule metabolic process (GO:0044281)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	sulfotransferase activity (GO:0008146)			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GGACCCTCCTGCAGCCTGCAA	0.542																																																	0													85.0	77.0	79.0					2																	108910186		2203	4300	6503	SO:0001819	synonymous_variant	6819			U66036, AF186255	CCDS2075.1, CCDS2076.1	2q12.3	2010-09-30	2007-03-16	2007-03-16	ENSG00000198203	ENSG00000198203		"""Sulfotransferases, cytosolic"""	11456	protein-coding gene	gene with protein product		602385	"""sulfotransferase family, cytosolic, 1C, member 1"""	SULT1C1		9169148, 10783263	Standard	NM_001056		Approved	ST1C1	uc002tdx.3	O00338	OTTHUMG00000153215	ENST00000437390.2:c.63G>T	2.37:g.108910186G>T		Somatic		WXS	SOLID	Phase_I	Q069I8|Q08AS5|Q53S63	Silent	SNP	ENST00000437390.2	37		.	.	.	.	.	.	.	.	.	.	G	4.647	0.120256	0.08881	.	.	ENSG00000198203	ENST00000409067	.	.	.	4.98	4.98	0.66077	.	.	.	.	.	T	0.71367	0.3331	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.70710	-0.4797	4	.	.	.	.	15.7356	0.77839	0.0:0.0:1.0:0.0	.	.	.	.	S	18	.	.	A	+	1	0	SULT1C2	108276618	0.000000	0.05858	0.736000	0.30914	0.395000	0.30598	0.245000	0.18142	2.300000	0.77407	0.561000	0.74099	GCA		0.542	SULT1C2-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000329969.2		NM_176825	
TACC3	10460	hgsc.bcm.edu	37	4	1738986	1738986	+	Silent	SNP	G	G	A			TCGA-CJ-4888-01A-01D-1373-10	TCGA-CJ-4888-11A-01D-1373-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2775365d-ec36-4bf9-91bc-1f2d37115097	375eb186-4071-4975-aaf7-8543b63f4829	g.chr4:1738986G>A	ENST00000313288.4	+	9	1873	c.1767G>A	c.(1765-1767)gaG>gaA	p.E589E		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	589					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GTGCAAATGAGACTCCCTCAG	0.547																																					Ovarian(120;482 2294 11894 35824)												0													126.0	109.0	115.0					4																	1738986		2203	4300	6503	SO:0001819	synonymous_variant	10460			AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.1767G>A	4.37:g.1738986G>A		Somatic		WXS	SOLID	Phase_I	Q2NKK4|Q3KQS5|Q9UMQ1	Silent	SNP	ENST00000313288.4	37	CCDS3352.1																																																																																				0.547	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			
TMEM132B	114795	hgsc.bcm.edu	37	12	126137053	126137053	+	Missense_Mutation	SNP	A	A	G	rs61940805	byFrequency	TCGA-CJ-4888-01A-01D-1373-10	TCGA-CJ-4888-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2775365d-ec36-4bf9-91bc-1f2d37115097	375eb186-4071-4975-aaf7-8543b63f4829	g.chr12:126137053A>G	ENST00000299308.3	+	8	1974	c.1966A>G	c.(1966-1968)Acc>Gcc	p.T656A	TMEM132B_ENST00000535886.1_Missense_Mutation_p.T168A	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	656						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TGACCGAGTCACCATCGCGGA	0.587																																																	0													44.0	47.0	46.0					12																	126137053		2095	4237	6332	SO:0001583	missense	114795			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.1966A>G	12.37:g.126137053A>G	ENSP00000299308:p.Thr656Ala	Somatic		WXS	SOLID	Phase_I	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	ENST00000299308.3	37	CCDS41859.1	.	.	.	.	.	.	.	.	.	.	A	12.31	1.898243	0.33535	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.13089	2.62;2.62	5.53	4.39	0.52855	.	0.000000	0.64402	D	0.000002	T	0.12944	0.0314	L	0.49778	1.585	0.46028	D	0.998823	B	0.28350	0.208	B	0.23574	0.047	T	0.04153	-1.0973	10	0.56958	D	0.05	.	8.505	0.33181	0.8512:0.0:0.1488:0.0	rs61940805	656	Q14DG7	T132B_HUMAN	A	656;168	ENSP00000299308:T656A;ENSP00000440436:T168A	ENSP00000299308:T656A	T	+	1	0	TMEM132B	124703006	1.000000	0.71417	1.000000	0.80357	0.380000	0.30137	4.863000	0.62983	0.927000	0.37143	0.533000	0.62120	ACC		0.587	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000400043.1		NM_052907	
PRSS58	136541	hgsc.bcm.edu	37	7	141952104	141952104	+	Silent	SNP	A	A	T			TCGA-CJ-4888-01A-01D-1373-10	TCGA-CJ-4888-11A-01D-1373-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2775365d-ec36-4bf9-91bc-1f2d37115097	375eb186-4071-4975-aaf7-8543b63f4829	g.chr7:141952104A>T	ENST00000552471.1	-	5	982	c.663T>A	c.(661-663)gtT>gtA	p.V221V	PRSS58_ENST00000547058.2_Silent_p.V221V			Q8IYP2	PRS58_HUMAN	protease, serine, 58	221	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(2)|skin(2)	19						CATAGATGCCAACATCGGCTC	0.443																																																	0													63.0	69.0	67.0					7																	141952104		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS5871.1	7q34	2012-10-03			ENSG00000258223	ENSG00000258223	3.4.21.4	"""Serine peptidases / Serine peptidases"""	39125	protein-coding gene	gene with protein product	"""trypsin X3"""						Standard	NM_001001317		Approved	TRYX3	uc003vxc.4	Q8IYP2	OTTHUMG00000158565	ENST00000552471.1:c.663T>A	7.37:g.141952104A>T		Somatic		WXS	SOLID	Phase_I	B3KVJ6|D3DXD2	Silent	SNP	ENST00000552471.1	37	CCDS5871.1																																																																																				0.443	PRSS58-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351328.2		NM_001001317	
PBRM1	55193	ucsc.edu	37	3	52613194	52613194	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CJ-4888-01A-01D-1373-10	TCGA-CJ-4888-11A-01D-1373-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	2775365d-ec36-4bf9-91bc-1f2d37115097	375eb186-4071-4975-aaf7-8543b63f4829	g.chr3:52613194C>A	ENST00000296302.7	-	21	3410	c.3409G>T	c.(3409-3411)Gaa>Taa	p.E1137*	PBRM1_ENST00000337303.4_Nonsense_Mutation_p.E1137*|PBRM1_ENST00000356770.4_Nonsense_Mutation_p.E1105*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.E1152*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.E1137*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.E1112*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.E1152*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.E1112*|SMIM4_ENST00000476842.1_3'UTR			Q86U86	PB1_HUMAN	polybromo 1	1137					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTGGACATTTCCACAGGGACA	0.428			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	.		Rec	yes		3	3p21	55193	polybromo 1		E	0													147.0	129.0	135.0					3																	52613194		2203	4300	6503	SO:0001587	stop_gained	55193			BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.3409G>T	3.37:g.52613194C>A	ENSP00000296302:p.Glu1137*	Somatic		WXS	SOLID	.	A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Nonsense_Mutation	SNP	ENST00000296302.7	37		.	.	.	.	.	.	.	.	.	.	C	40	8.411560	0.98799	.	.	ENSG00000163939	ENST00000356770;ENST00000394830;ENST00000296302;ENST00000337303;ENST00000409057;ENST00000410007;ENST00000409114;ENST00000409767;ENST00000423351	.	.	.	5.82	5.82	0.92795	.	0.110831	0.64402	D	0.000004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	-17.1487	20.089	0.97809	0.0:1.0:0.0:0.0	.	.	.	.	X	1105;1112;1137;1137;1137;1112;1152;1152;1136	.	ENSP00000296302:E1137X	E	-	1	0	PBRM1	52588234	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.760000	0.85248	2.765000	0.95021	0.591000	0.81541	GAA		0.428	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1		NM_018165	
