#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_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_classification	i_context	i_dataset	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_type
AMPD2	271	hgsc.bcm.edu	37	1	110168805	110168805	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1625-01	TCGA-25-1625-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1625-01	TCGA-25-1625-10	g.chr1:110168805G>A	ENST00000256578.3	+	4	899	c.539G>A	c.(538-540)cGg>cAg	p.R180Q	AMPD2_ENST00000528454.1_Missense_Mutation_p.R62Q|AMPD2_ENST00000393688.3_Missense_Mutation_p.R61Q|AMPD2_ENST00000358729.4_Missense_Mutation_p.R105Q|AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000342115.4_Missense_Mutation_p.R99Q|AMPD2_ENST00000528667.1_Missense_Mutation_p.R180Q	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	180					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)	p.R99Q(1)|p.R180Q(1)		breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		ATCCTGCTTCGGGCCAAGCAA	0.637																																																2	Substitution - Missense(2)	ovary(2)	1											68.0	55.0	59.0					1																	110168805		2203	4300	6503	109970328	SO:0001583	missense	271			S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"""AMPD isoform L"""	102771	"""adenosine monophosphate deaminase 2 (isoform L)"""			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.539G>A	1.37:g.110168805G>A	ENSP00000256578:p.Arg180Gln		109970328	B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	ENST00000256578.3	37	CCDS805.1	SNP	39	Baylor	.	.	.	.	.	.	.	.	.	.	G	36	5.620824	0.96660	.	.	ENSG00000116337	ENST00000531734;ENST00000342115;ENST00000528667;ENST00000531203;ENST00000256578;ENST00000358729;ENST00000527846;ENST00000528454;ENST00000393688	D;D;D;T;T;D	0.86562	-2.06;-2.14;-2.14;1.26;1.26;-2.01	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.89708	0.6793	L	0.50333	1.59	0.45621	D	0.998552	D;D;D;D	0.76494	0.998;0.999;0.982;0.979	D;P;P;P	0.72982	0.979;0.781;0.543;0.492	D	0.88518	0.3094	10	0.37606	T	0.19	-31.0641	18.0711	0.89407	0.0:0.0:1.0:0.0	.	105;61;180;99	Q01433-4;Q01433-3;Q01433;Q01433-2	.;.;AMPD2_HUMAN;.	Q	99;99;180;62;180;105;147;62;61	ENSP00000345498:R99Q;ENSP00000436541:R180Q;ENSP00000256578:R180Q;ENSP00000351573:R105Q;ENSP00000437164:R62Q;ENSP00000377292:R61Q	ENSP00000256578:R180Q	R	+	2	0	AMPD2	109970328	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.532000	0.98057	2.337000	0.79520	0.462000	0.41574	CGG		0.637	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390615.1			Missense_Mutation
ADAMTS4	9507	hgsc.bcm.edu	37	1	161161089	161161089	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1625-01	TCGA-25-1625-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1625-01	TCGA-25-1625-10	g.chr1:161161089C>G	ENST00000367996.5	-	9	2781	c.2353G>C	c.(2353-2355)Gtc>Ctc	p.V785L	ADAMTS4_ENST00000478394.1_5'Flank	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4	785	Spacer.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)	p.V785L(1)|p.V785F(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		Tinzaparin(DB06822)	GCCACTAGGACTTGCAGTGTC	0.657																																																2	Substitution - Missense(2)	ovary(2)	1											62.0	49.0	54.0					1																	161161089		2203	4300	6503	159427713	SO:0001583	missense	9507			AB014588	CCDS1223.1	1q31-q32	2008-02-05	2005-08-19		ENSG00000158859	ENSG00000158859		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	220	protein-coding gene	gene with protein product		603876	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 4"""			10094461	Standard	NM_005099		Approved	KIAA0688, ADAMTS-2, ADMP-1	uc001fyt.4	O75173	OTTHUMG00000034349	ENST00000367996.5:c.2353G>C	1.37:g.161161089C>G	ENSP00000356975:p.Val785Leu		159427713	Q5VTW2|Q6P4Q8|Q6UWA8|Q9UN83	Missense_Mutation	SNP	ENST00000367996.5	37	CCDS1223.1	SNP	20	Baylor	.	.	.	.	.	.	.	.	.	.	C	14.86	2.660975	0.47572	.	.	ENSG00000158859	ENST00000367996	T	0.56103	0.48	4.42	4.42	0.53409	ADAM-TS Spacer 1 (1);	0.282688	0.26297	N	0.025200	T	0.32912	0.0845	L	0.34521	1.04	0.80722	D	1	B	0.21071	0.051	B	0.31869	0.137	T	0.16571	-1.0398	10	0.33141	T	0.24	.	16.3084	0.82859	0.0:1.0:0.0:0.0	.	785	O75173	ATS4_HUMAN	L	785	ENSP00000356975:V785L	ENSP00000356975:V785L	V	-	1	0	ADAMTS4	159427713	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.577000	0.67444	2.438000	0.82558	0.561000	0.74099	GTC		0.657	ADAMTS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083066.2	NM_005099		Missense_Mutation
ANG	283	hgsc.bcm.edu	37	14	21161845	21161845	+	Missense_Mutation	SNP	A	A	T	rs121909536	byFrequency	TCGA-25-1625-01	TCGA-25-1625-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1625-01	TCGA-25-1625-10	g.chr14:21161845A>T	ENST00000336811.6	+	2	722	c.122A>T	c.(121-123)aAa>aTa	p.K41I	RNASE4_ENST00000555597.1_Intron|RNASE4_ENST00000397995.2_Intron|ANG_ENST00000397990.4_Missense_Mutation_p.K41I|RP11-903H12.3_ENST00000554286.1_RNA|RNASE4_ENST00000304704.4_Intron|RNASE4_ENST00000555835.1_Intron|ANG_ENST00000554073.1_Intron|AL163636.6_ENST00000553909.1_Intron	NM_001145.4	NP_001136.1	P03950	ANGI_HUMAN	angiogenin, ribonuclease, RNase A family, 5	41			K -> E (in ALS9; reduced ribonucleolytic activity). {ECO:0000269|PubMed:16501576}.|K -> I (in ALS9; loss of angiogenic activity; reduced ribonucleolytic activity; retains nuclear translocation). {ECO:0000269|PubMed:16501576, ECO:0000269|PubMed:17886298}.		actin filament polymerization (GO:0030041)|activation of phospholipase A2 activity (GO:0032431)|activation of phospholipase C activity (GO:0007202)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|cell communication (GO:0007154)|cell death (GO:0008219)|cell migration (GO:0016477)|diacylglycerol biosynthetic process (GO:0006651)|homeostatic process (GO:0042592)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of translation (GO:0017148)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oocyte maturation (GO:0001556)|ovarian follicle development (GO:0001541)|placenta development (GO:0001890)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein secretion (GO:0050714)|response to hormone (GO:0009725)|response to hypoxia (GO:0001666)|RNA phosphodiester bond hydrolysis (GO:0090501)|rRNA transcription (GO:0009303)	angiogenin-PRI complex (GO:0032311)|basal lamina (GO:0005605)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)	actin binding (GO:0003779)|copper ion binding (GO:0005507)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|heparin binding (GO:0008201)|peptide binding (GO:0042277)|receptor binding (GO:0005102)|ribonuclease activity (GO:0004540)|rRNA binding (GO:0019843)	p.K41I(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)	5	all_cancers(95;0.00387)	all_cancers(140;0.196)|all_epithelial(140;0.156)	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07)		TATGATGCCAAACCACAGGGC	0.532													A|||	2	0.000399361	0.0	0.0	5008	,	,		20327	0.0		0.001	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	14	GRCh37	CM060827	ANG	M	rs121909536	A	ILE/LYS,ILE/LYS,,	4,4402	6.2+/-15.9	0,4,2199	131.0	113.0	119.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	122,122,,	0.9	0.0	14	dbSNP_133	119	22,8578	16.0+/-53.3	0,22,4278	yes	missense,missense,intron,intron	ANG,RNASE4	NM_001097577.2,NM_001145.4,NM_002937.3,NM_194431.1	102,102,,	0,26,6477	TT,TA,AA		0.2558,0.0908,0.1999	benign,benign,,	41/148,41/148,,	21161845	26,12980	2203	4300	6503	20231685	SO:0001583	missense	283				CCDS9554.1	14q11.1-q11.2	2014-09-17			ENSG00000214274	ENSG00000214274	3.1.27.-	"""Ribonucleases, RNase A"""	483	protein-coding gene	gene with protein product		105850				1978563	Standard	NM_001145		Approved	RNASE5	uc001vxw.4	P03950	OTTHUMG00000029576	ENST00000336811.6:c.122A>T	14.37:g.21161845A>T	ENSP00000336762:p.Lys41Ile		20231685	Q05CV1|Q53X86|Q6P5T2|Q8WXE7	Missense_Mutation	SNP	ENST00000336811.6	37	CCDS9554.1	SNP	1	Baylor	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	A	5.580	0.291884	0.10567	9.08E-4	0.002558	ENSG00000214274	ENST00000336811;ENST00000397990	D;D	0.94931	-3.56;-3.56	4.57	0.913	0.19354	Ribonuclease A, domain (4);	0.653733	0.12095	U	0.500088	D	0.94745	0.8304	M	0.86178	2.8	0.09310	A	1.04007e-07	B	0.25521	0.128	B	0.39935	0.314	D	0.91419	0.5157	9	0.49607	T	0.09	.	5.4925	0.16785	0.6761:0.1493:0.1746:0.0	.	41	P03950	ANGI_HUMAN	I	41	ENSP00000336762:K41I;ENSP00000381077:K41I	ENSP00000336762:K41I	K	+	2	0	ANG	20231685	0.000000	0.05858	0.009000	0.14445	0.000000	0.00434	0.151000	0.16283	-0.267000	0.09325	-2.718000	0.00132	AAA		0.532	ANG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073731.3	NM_001097577		Missense_Mutation
BRCA1	672	hgsc.bcm.edu	37	17	41256234	41256234	+	Nonsense_Mutation	SNP	C	C	A	rs397509071		TCGA-25-1625-01	TCGA-25-1625-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1625-01	TCGA-25-1625-10	g.chr17:41256234C>A	ENST00000357654.3	-	6	464	c.346G>T	c.(346-348)Gaa>Taa	p.E116*	BRCA1_ENST00000354071.3_Nonsense_Mutation_p.E116*|BRCA1_ENST00000491747.2_Nonsense_Mutation_p.E116*|BRCA1_ENST00000471181.2_Nonsense_Mutation_p.E116*|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000468300.1_Nonsense_Mutation_p.E116*|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000351666.3_Nonsense_Mutation_p.E116*|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000493795.1_Nonsense_Mutation_p.E69*|BRCA1_ENST00000352993.3_Nonsense_Mutation_p.E116*|BRCA1_ENST00000346315.3_Nonsense_Mutation_p.E116*	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	116					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|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)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E116*(1)		NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTTAGATGTTCAGGAGAGTTA	0.338			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	1	Substitution - Nonsense(1)	ovary(1)	17	GRCh37	CM023883	BRCA1	M							192.0	185.0	188.0					17																	41256234		2203	4300	6503	38509760	SO:0001587	stop_gained	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.346G>T	17.37:g.41256234C>A	ENSP00000350283:p.Glu116*		38509760	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Nonsense_Mutation	SNP	ENST00000357654.3	37	CCDS11453.1	SNP	29	Baylor	.	.	.	.	.	.	.	.	.	.	C	34	5.363700	0.95877	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000352993;ENST00000346315;ENST00000351666;ENST00000468300;ENST00000393691;ENST00000471181;ENST00000493795;ENST00000491747;ENST00000478531;ENST00000484087;ENST00000493919;ENST00000487825;ENST00000470026;ENST00000477152;ENST00000494123;ENST00000476777;ENST00000489037	.	.	.	5.32	5.32	0.75619	.	0.000000	0.52532	D	0.000061	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.3174	0.82932	0.0:1.0:0.0:0.0	.	.	.	.	X	116;116;116;116;116;116;116;69;116;69;116;116;32;69;32;116;90;116;116;90	.	ENSP00000246907:E116X	E	-	1	0	BRCA1	38509760	1.000000	0.71417	0.998000	0.56505	0.914000	0.54420	2.751000	0.47508	2.773000	0.95371	0.655000	0.94253	GAA		0.338	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348798.2	NM_007294		Nonsense_Mutation
EDRF1	26098	hgsc.bcm.edu	37	10	127434285	127434285	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1625-01	TCGA-25-1625-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1625-01	TCGA-25-1625-10	g.chr10:127434285C>G	ENST00000356792.4	+	19	2832	c.2600C>G	c.(2599-2601)tCt>tGt	p.S867C	RP11-383C5.7_ENST00000600784.1_RNA|RP11-383C5.7_ENST00000449436.1_RNA|C10orf137_ENST00000337623.3_Missense_Mutation_p.S833C|RP11-383C5.7_ENST00000593871.1_RNA|RP11-383C5.7_ENST00000594025.1_RNA|RP11-383C5.7_ENST00000602030.1_RNA	NM_001202438.1	NP_001189367.1	Q3B7T1	EDRF1_HUMAN		867					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S833C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GTGAGCAAATCTGTGTCTGCT	0.418																																																1	Substitution - Missense(1)	ovary(1)	10											64.0	64.0	64.0					10																	127434285		2203	4300	6503	127424275	SO:0001583	missense	26098																														ENST00000356792.4:c.2600C>G	10.37:g.127434285C>G	ENSP00000349244:p.Ser867Cys		127424275	B2RC65|Q3KR40|Q4G190|Q5VZQ4|Q8IZ74|Q9Y3W4	Missense_Mutation	SNP	ENST00000356792.4	37	CCDS55733.1	SNP	32	Baylor	.	.	.	.	.	.	.	.	.	.	C	16.46	3.129072	0.56721	.	.	ENSG00000107938	ENST00000356792;ENST00000337623	T;T	0.76839	-1.05;-1.05	5.6	3.75	0.43078	Tetratricopeptide-like helical (1);	0.590086	0.18764	N	0.131804	T	0.72471	0.3464	N	0.19112	0.55	0.27355	N	0.956121	P;D;P	0.60575	0.911;0.988;0.82	P;P;P	0.52710	0.621;0.707;0.518	T	0.65788	-0.6083	10	0.62326	D	0.03	.	11.0863	0.48089	0.0879:0.5682:0.344:0.0	.	867;214;833	Q3B7T1;Q5VZQ1;Q3B7T1-5	EDRF1_HUMAN;.;.	C	867;833	ENSP00000349244:S867C;ENSP00000336727:S833C	ENSP00000336727:S833C	S	+	2	0	C10orf137	127424275	0.828000	0.29307	0.997000	0.53966	0.983000	0.72400	1.319000	0.33655	0.721000	0.32231	0.655000	0.94253	TCT		0.418	C10orf137-007	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388539.1			Missense_Mutation
MB21D2	151963	hgsc.bcm.edu	37	3	192517164	192517164	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1625-01	TCGA-25-1625-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1625-01	TCGA-25-1625-10	g.chr3:192517164C>G	ENST00000392452.2	-	2	807	c.487G>C	c.(487-489)Gac>Cac	p.D163H		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	163							protein complex binding (GO:0032403)	p.D161H(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						GTGCAGCAGTCTTTCCATTTA	0.498																																																1	Substitution - Missense(1)	ovary(1)	3											85.0	84.0	85.0					3																	192517164		2203	4300	6503	193999858	SO:0001583	missense	151963			AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.487G>C	3.37:g.192517164C>G	ENSP00000376246:p.Asp163His		193999858	Q86VD8	Missense_Mutation	SNP	ENST00000392452.2	37	CCDS3302.2	SNP	32	Baylor	.	.	.	.	.	.	.	.	.	.	C	20.9	4.061675	0.76187	.	.	ENSG00000180611	ENST00000392452	T	0.08807	3.05	5.63	5.63	0.86233	.	0.198320	0.51477	D	0.000089	T	0.23492	0.0568	L	0.59436	1.845	0.80722	D	1	D	0.69078	0.997	P	0.58520	0.84	T	0.00056	-1.2177	10	0.62326	D	0.03	.	18.6978	0.91607	0.0:1.0:0.0:0.0	.	163	Q8IYB1	M21D2_HUMAN	H	163	ENSP00000376246:D163H	ENSP00000376246:D163H	D	-	1	0	MB21D2	193999858	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.629000	0.83207	2.652000	0.90054	0.655000	0.94253	GAC		0.498	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341543.1	NM_178496		Missense_Mutation
MLIP	90523	hgsc.bcm.edu	37	6	54067033	54067033	+	Splice_Site	SNP	T	T	C			TCGA-25-1625-01	TCGA-25-1625-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1625-01	TCGA-25-1625-10	g.chr6:54067033T>C	ENST00000274897.5	+	10	1226		c.e10+2		MLIP_ENST00000502396.1_Splice_Site|MLIP_ENST00000370877.2_Splice_Site|MLIP_ENST00000509997.1_Splice_Site|MLIP_ENST00000358276.5_Splice_Site|MLIP_ENST00000370876.2_Splice_Site|MLIP_ENST00000514921.1_Splice_Site|MLIP_ENST00000511744.1_Splice_Site	NM_138569.2	NP_612636.2	Q5VWP3	MLIP_HUMAN	muscular LMNA-interacting protein							nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|PML body (GO:0016605)		p.?(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(16)|ovary(8)|skin(4)|stomach(1)|urinary_tract(1)	34						TCTGAACAGGTGAGCACATAC	0.254																																																1	Unknown(1)	ovary(1)	6											71.0	70.0	70.0					6																	54067033		2203	4300	6503	54174992	SO:0001630	splice_region_variant	90523			AK055530	CCDS4954.1, CCDS64448.1, CCDS64449.1	6p12.2-p12.1	2011-04-29	2011-04-29	2011-04-29	ENSG00000146147	ENSG00000146147			21355	protein-coding gene	gene with protein product	"""muscle-enriched A-type lamin interacting protein"""	614106	"""chromosome 6 open reading frame 142"""	C6orf142		21498514	Standard	NM_138569		Approved	MGC18257	uc011dxa.2	Q5VWP3	OTTHUMG00000014891	ENST00000274897.5:c.1113+2T>C	6.37:g.54067033T>C			54174992	B7Z2N0|D6RE05|Q96H08|Q96NF7	Splice_Site_SNP	SNP	ENST00000274897.5	37	CCDS4954.1	SNP	59	Baylor	.	.	.	.	.	.	.	.	.	.	T	16.40	3.111392	0.56398	.	.	ENSG00000146147	ENST00000274897;ENST00000514921;ENST00000370877;ENST00000509997;ENST00000370876;ENST00000502396;ENST00000358276;ENST00000514433	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2533	0.54610	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MLIP	54174992	1.000000	0.71417	1.000000	0.80357	0.692000	0.40212	4.586000	0.60984	2.147000	0.66899	0.477000	0.44152	.		0.254	MLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040979.3	NM_138569	Intron	Splice_Site_SNP
CES5A	221223	hgsc.bcm.edu	37	16	55895428	55895428	+	Splice_Site	SNP	G	G	T			TCGA-25-1625-01	TCGA-25-1625-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1625-01	TCGA-25-1625-10	g.chr16:55895428G>T	ENST00000290567.9	-	7	932	c.811C>A	c.(811-813)Ctg>Atg	p.L271M	CES5A_ENST00000518005.1_Splice_Site_p.L165M|CES5A_ENST00000319165.9_Splice_Site_p.L271M|CES5A_ENST00000520435.1_Splice_Site_p.L241M|CES5A_ENST00000521992.1_Splice_Site_p.L300M|CES5A_ENST00000541580.1_5'UTR	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	271						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)	p.L271M(1)		breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						ACCACCTGCAGCTATTTTGTA	0.512																																																1	Substitution - Missense(1)	ovary(1)	16											47.0	42.0	44.0					16																	55895428		2198	4300	6498	54452929	SO:0001630	splice_region_variant	221223			AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.811-1C>A	16.37:g.55895428G>T			54452929	B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	ENST00000290567.9	37	CCDS45490.1	SNP	34	Baylor	.	.	.	.	.	.	.	.	.	.	G	9.880	1.201208	0.22121	.	.	ENSG00000159398	ENST00000521992;ENST00000319165;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000541580	T;T;T;T;T	0.08370	3.1;3.1;3.1;3.1;3.1	3.99	2.91	0.33838	Carboxylesterase, type B (1);	0.434713	0.17193	N	0.183435	T	0.08891	0.0220	L	0.51422	1.61	0.28346	N	0.92113	P;P	0.36412	0.552;0.496	B;B	0.38428	0.273;0.178	T	0.12604	-1.0541	10	0.48119	T	0.1	.	5.761	0.18201	0.8757:0.0:0.1243:0.0	.	271;271	Q6NT32;Q6NT32-2	EST5A_HUMAN;.	M	300;271;165;271;241;52	ENSP00000428864:L300M;ENSP00000324271:L271M;ENSP00000428571:L165M;ENSP00000290567:L271M;ENSP00000428887:L241M	ENSP00000290567:L271M	L	-	1	2	CES5A	54452929	0.954000	0.32549	1.000000	0.80357	0.033000	0.12548	-0.170000	0.09897	0.895000	0.36342	-0.498000	0.04607	CTG		0.512	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256975.3	NM_145024	Missense_Mutation	Missense_Mutation
COL6A3	1293	hgsc.bcm.edu	37	2	238249614	238249614	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1625-01	TCGA-25-1625-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1625-01	TCGA-25-1625-10	g.chr2:238249614G>C	ENST00000295550.4	-	38	8397	c.7945C>G	c.(7945-7947)Ctg>Gtg	p.L2649V	COL6A3_ENST00000472056.1_Missense_Mutation_p.L2042V|COL6A3_ENST00000409809.1_Missense_Mutation_p.L2443V|COL6A3_ENST00000346358.4_Missense_Mutation_p.L2449V|COL6A3_ENST00000347401.3_Missense_Mutation_p.L2448V|COL6A3_ENST00000353578.4_Missense_Mutation_p.L2443V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2649	Nonhelical region.|VWFA 12. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.L2649V(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTCATGTCCAGTTGTCTGACC	0.557																																																1	Substitution - Missense(1)	ovary(1)	2											146.0	134.0	138.0					2																	238249614		2203	4300	6503	237914353	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7945C>G	2.37:g.238249614G>C	ENSP00000295550:p.Leu2649Val		237914353	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	ENST00000295550.4	37	CCDS33412.1	SNP	36	Baylor	.	.	.	.	.	.	.	.	.	.	G	11.12	1.546232	0.27652	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.87412	-2.25;-2.25;-2.25;-2.25;-2.25;-2.25	5.05	5.05	0.67936	von Willebrand factor, type A (3);	0.166790	0.28209	N	0.016197	D	0.91136	0.7209	M	0.71581	2.175	0.44745	D	0.997742	D;D;D	0.76494	0.984;0.98;0.999	P;P;D	0.79108	0.847;0.762;0.992	D	0.89313	0.3634	10	0.33940	T	0.23	.	8.8096	0.34959	0.0768:0.0:0.7732:0.15	.	2042;2443;2649	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	V	2649;2448;2443;2042;2443;2449	ENSP00000295550:L2649V;ENSP00000315609:L2448V;ENSP00000315873:L2443V;ENSP00000418285:L2042V;ENSP00000386844:L2443V;ENSP00000295546:L2449V	ENSP00000295550:L2649V	L	-	1	2	COL6A3	237914353	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.271000	0.43364	2.478000	0.83669	0.655000	0.94253	CTG		0.557	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000315790.2	NM_004369		Missense_Mutation
COL9A1	1297	hgsc.bcm.edu	37	6	71003931	71003931	+	Missense_Mutation	SNP	A	A	G	rs141776183		TCGA-25-1625-01	TCGA-25-1625-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1625-01	TCGA-25-1625-10	g.chr6:71003931A>G	ENST00000357250.6	-	5	793	c.635T>C	c.(634-636)aTt>aCt	p.I212T	COL9A1_ENST00000370496.3_Missense_Mutation_p.I212T	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	212	Laminin G-like.|Nonhelical region (NC4).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)	p.I212T(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						ATCAATGTCAATTGGGCCTCT	0.413																																																1	Substitution - Missense(1)	ovary(1)	6						A	THR/ILE	0,4406		0,0,2203	123.0	119.0	121.0		635	5.8	0.0	6	dbSNP_134	121	1,8599	1.2+/-3.3	0,1,4299	no	missense	COL9A1	NM_001851.4	89	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	possibly-damaging	212/922	71003931	1,13005	2203	4300	6503	71060652	SO:0001583	missense	1297				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.635T>C	6.37:g.71003931A>G	ENSP00000349790:p.Ile212Thr		71060652	Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Missense_Mutation	SNP	ENST00000357250.6	37	CCDS4971.1	SNP	4	Baylor	.	.	.	.	.	.	.	.	.	.	A	12.83	2.054374	0.36277	0.0	1.16E-4	ENSG00000112280	ENST00000357250;ENST00000370496	T;T	0.77750	4.26;-1.12	5.77	5.77	0.91146	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);	0.188102	0.45867	D	0.000321	T	0.77525	0.4143	M	0.75264	2.295	0.80722	D	1	P	0.41929	0.765	P	0.45712	0.491	T	0.81949	-0.0699	10	0.87932	D	0	.	16.3818	0.83467	1.0:0.0:0.0:0.0	.	212	P20849	CO9A1_HUMAN	T	212	ENSP00000349790:I212T;ENSP00000359527:I212T	ENSP00000349790:I212T	I	-	2	0	COL9A1	71060652	0.999000	0.42202	0.043000	0.18650	0.211000	0.24417	6.802000	0.75175	2.330000	0.79161	0.528000	0.53228	ATT		0.413	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041131.2			Missense_Mutation
FBN3	84467	hgsc.bcm.edu	37	19	8200925	8200925	+	Missense_Mutation	SNP	C	C	A	rs188383764	byFrequency	TCGA-25-1625-01	TCGA-25-1625-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1625-01	TCGA-25-1625-10	g.chr19:8200925C>A	ENST00000600128.1	-	13	1925	c.1511G>T	c.(1510-1512)cGc>cTc	p.R504L	FBN3_ENST00000270509.2_Missense_Mutation_p.R504L|FBN3_ENST00000601739.1_Missense_Mutation_p.R504L			Q75N90	FBN3_HUMAN	fibrillin 3	504	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)	p.R504L(1)		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						GTTGACACAGCGGCCCAGGTG	0.632																																																1	Substitution - Missense(1)	ovary(1)	19											58.0	46.0	50.0					19																	8200925		2203	4300	6503	8106925	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.1511G>T	19.37:g.8200925C>A	ENSP00000470498:p.Arg504Leu		8106925	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Missense_Mutation	SNP	ENST00000600128.1	37	CCDS12196.1	SNP	27	Baylor	.	.	.	.	.	.	.	.	.	.	c	16.68	3.190003	0.58017	.	.	ENSG00000142449	ENST00000270509	D	0.91792	-2.91	4.35	0.997	0.19851	EGF-like calcium-binding, conserved site (1);EGF-like calcium-binding (2);Epidermal growth factor-like, type 3 (1);	0.059386	0.64402	U	0.000001	D	0.89280	0.6670	N	0.11756	0.17	0.36802	D	0.885418	D	0.76494	0.999	D	0.70716	0.97	D	0.86694	0.1925	10	0.37606	T	0.19	.	9.1522	0.36971	0.0:0.7598:0.0:0.2402	.	504	Q75N90	FBN3_HUMAN	L	504	ENSP00000270509:R504L	ENSP00000270509:R504L	R	-	2	0	FBN3	8106925	1.000000	0.71417	0.995000	0.50966	0.498000	0.33706	1.837000	0.39201	0.007000	0.14760	-0.768000	0.03414	CGC		0.632	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461428.2	NM_032447		Missense_Mutation
FRG1	2483	hgsc.bcm.edu	37	4	190862200	190862200	+	Silent	SNP	C	C	T	rs73024914		TCGA-25-1625-01	TCGA-25-1625-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1625-01	TCGA-25-1625-10	g.chr4:190862200C>T	ENST00000226798.4	+	1	258	c.36C>T	c.(34-36)ctC>ctT	p.L12L	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	12	Lys-rich.				mRNA splicing, via spliceosome (GO:0000398)|muscle organ development (GO:0007517)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)	p.L12L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		CTACCAAGCTCGTGCTCAAGG	0.617											OREG0016457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	.|||	1	0.000199681	0.0008	0.0	5008	,	,		14819	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	ovary(1)	4											39.0	41.0	40.0					4																	190862200		2203	4300	6503	191099194	SO:0001819	synonymous_variant	2483			L76159	CCDS34121.1	4q35	2008-02-05			ENSG00000109536	ENSG00000109536			3954	protein-coding gene	gene with protein product		601278				8733123	Standard	XM_005262880		Approved	FSG1, FRG1A	uc003izs.3	Q14331	OTTHUMG00000160202	ENST00000226798.4:c.36C>T	4.37:g.190862200C>T		2041	191099194	A8K775	Silent	SNP	ENST00000226798.4	37	CCDS34121.1	SNP	31	Baylor																																																																																				0.617	FRG1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000359622.4	NM_004477		Silent
HEXA	3073	hgsc.bcm.edu	37	15	72640437	72640437	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1625-01	TCGA-25-1625-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1625-01	TCGA-25-1625-10	g.chr15:72640437T>C	ENST00000268097.5	-	9	1528	c.1025A>G	c.(1024-1026)aAa>aGa	p.K342R	RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000429918.2_Missense_Mutation_p.K169R|RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000566304.1_Missense_Mutation_p.K353R|HEXA_ENST00000567159.1_Missense_Mutation_p.K342R|HEXA_ENST00000457859.2_Missense_Mutation_p.K150R	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	342					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-N-acetylhexosaminidase activity (GO:0004563)|protein heterodimerization activity (GO:0046982)	p.K342R(1)		breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						ACCGAAGCCTTTCTTCCTCAT	0.517																																																1	Substitution - Missense(1)	ovary(1)	15											81.0	79.0	80.0					15																	72640437		2199	4297	6496	70427491	SO:0001583	missense	3073			M13520	CCDS10243.1	15q24.1	2012-10-02			ENSG00000213614	ENSG00000213614	3.2.1.52		4878	protein-coding gene	gene with protein product	"""Tay Sachs disease"", ""GM2 gangliosidosis"""	606869				2952641, 3013851	Standard	NM_000520		Approved		uc002aun.4	P06865	OTTHUMG00000133445	ENST00000268097.5:c.1025A>G	15.37:g.72640437T>C	ENSP00000268097:p.Lys342Arg		70427491	B4DKE7|E7ENH7|Q53HS8|Q6AI32	Missense_Mutation	SNP	ENST00000268097.5	37	CCDS10243.1	SNP	64	Baylor	.	.	.	.	.	.	.	.	.	.	T	12.64	1.997994	0.35226	.	.	ENSG00000213614	ENST00000268097;ENST00000457859;ENST00000429918	D;D;D	0.95724	-3.79;-3.79;-3.79	5.31	4.12	0.48240	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);Glycoside hydrolase, family 20, catalytic core (1);	0.053048	0.64402	D	0.000001	D	0.89719	0.6796	L	0.29908	0.895	0.28585	N	0.90992	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0	B;B;B;B;B	0.17979	0.003;0.02;0.003;0.001;0.005	T	0.78775	-0.2072	10	0.18710	T	0.47	-20.5291	8.1295	0.31018	0.2876:0.0:0.0:0.7124	.	169;353;169;222;342	E9PGL4;B4DVA7;B4DVL8;Q9BVJ8;P06865	.;.;.;.;HEXA_HUMAN	R	342;150;169	ENSP00000268097:K342R;ENSP00000398026:K150R;ENSP00000416187:K169R	ENSP00000268097:K342R	K	-	2	0	HEXA	70427491	0.044000	0.20184	1.000000	0.80357	0.977000	0.68977	0.202000	0.17295	2.006000	0.58801	0.533000	0.62120	AAA		0.517	HEXA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257317.2	NM_000520		Missense_Mutation
ILVBL	10994	hgsc.bcm.edu	37	19	15228699	15228699	+	Silent	SNP	A	A	T			TCGA-25-1625-01	TCGA-25-1625-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1625-01	TCGA-25-1625-10	g.chr19:15228699A>T	ENST00000263383.3	-	10	1318	c.1179T>A	c.(1177-1179)gcT>gcA	p.A393A	ILVBL_ENST00000531635.1_5'Flank|ILVBL_ENST00000534378.1_Silent_p.A286A	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	393						integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|thiamine pyrophosphate binding (GO:0030976)|transferase activity (GO:0016740)	p.A393A(1)		NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						CACCCTGCACAGCCTCCTGGG	0.557																																																1	Substitution - coding silent(1)	ovary(1)	19											89.0	83.0	85.0					19																	15228699		2203	4300	6503	15089699	SO:0001819	synonymous_variant	10994			U61263	CCDS12325.1	19p13.1	2008-07-16			ENSG00000105135	ENSG00000105135			6041	protein-coding gene	gene with protein product	"""acetolactate synthase homolog"""	605770				8954801	Standard	NM_006844		Approved	209L8, AHAS, ILV2H, MGC1269, FLJ39061, MGC19535	uc002nam.3	A1L0T0	OTTHUMG00000165630	ENST00000263383.3:c.1179T>A	19.37:g.15228699A>T			15089699	O43341|Q96F08|Q99651|Q9BWN5|Q9UEB2	Silent	SNP	ENST00000263383.3	37	CCDS12325.1	SNP	7	Baylor																																																																																				0.557	ILVBL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385439.1	NM_006844		Silent
IPO5	3843	hgsc.bcm.edu	37	13	98652846	98652846	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1625-01	TCGA-25-1625-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1625-01	TCGA-25-1625-10	g.chr13:98652846G>T	ENST00000490680.1	+	10	1120	c.1055G>T	c.(1054-1056)gGa>gTa	p.G352V	IPO5_ENST00000261574.5_Missense_Mutation_p.G370V|IPO5_ENST00000539640.1_Missense_Mutation_p.G227V			O00410	IPO5_HUMAN	importin 5	352	Ran-GTP binding. {ECO:0000250}.				cellular response to amino acid stimulus (GO:0071230)|negative regulation of catalytic activity (GO:0043086)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein import into nucleus (GO:0042307)|ribosomal protein import into nucleus (GO:0006610)|viral process (GO:0016032)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|Ran GTPase binding (GO:0008536)	p.G370V(1)		breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GGACTTGGTGGAAAGCTCGTT	0.418																																																1	Substitution - Missense(1)	ovary(1)	13											131.0	114.0	120.0					13																	98652846		2203	4300	6503	97450847	SO:0001583	missense	3843			U72761	CCDS31999.1	13q32.2	2012-05-02	2008-04-15	2008-04-15	ENSG00000065150	ENSG00000065150		"""Importins"""	6402	protein-coding gene	gene with protein product		602008	"""karyopherin (importin) beta 3"", ""RAN binding protein 5"""	KPNB3, RANBP5		9114010, 9271386, 17005651	Standard	NM_002271		Approved	IMB3, MGC2068, Pse1	uc001vne.3	O00410	OTTHUMG00000017244	ENST00000490680.1:c.1055G>T	13.37:g.98652846G>T	ENSP00000418393:p.Gly352Val		97450847	B4DZA0|O15257|Q5T578|Q86XC7	Missense_Mutation	SNP	ENST00000490680.1	37		SNP	41	Baylor	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.448274|5.448274	0.96205|0.96205	.|.	.|.	ENSG00000065150|ENSG00000065150	ENST00000469360|ENST00000261574;ENST00000357602;ENST00000490680;ENST00000539640	.|T;T;T;T	.|0.23754	.|1.89;1.89;1.89;1.89	5.99|5.99	5.99|5.99	0.97316|0.97316	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|T	.|0.63355	.|0.2504	M|M	0.91300|0.91300	3.195|3.195	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|1.0;0.999;1.0	.|T	.|0.69727	.|-0.5067	.|10	.|0.87932	.|D	.|0	-10.4637|-10.4637	20.4756|20.4756	0.99175|0.99175	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|227;352;370	.|B4E0R6;O00410;O00410-3	.|.;IPO5_HUMAN;.	X|V	354|370;352;352;227	.|ENSP00000261574:G370V;ENSP00000350219:G352V;ENSP00000418393:G352V;ENSP00000445126:G227V	.|ENSP00000261574:G370V	E|G	+|+	1|2	0|0	IPO5|IPO5	97450847|97450847	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	9.581000|9.581000	0.98210|0.98210	2.847000|2.847000	0.97988|0.97988	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.418	IPO5-006	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000354655.1	NM_002271		Missense_Mutation
KCTD14	65987	hgsc.bcm.edu	37	11	77727790	77727790	+	Missense_Mutation	SNP	G	G	A	rs182601195		TCGA-25-1625-01	TCGA-25-1625-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1625-01	TCGA-25-1625-10	g.chr11:77727790G>A	ENST00000353172.5	-	2	661	c.617C>T	c.(616-618)gCg>gTg	p.A206V	KCTD14_ENST00000533144.1_Missense_Mutation_p.A176V|RP11-7I15.3_ENST00000533697.1_RNA	NM_001203260.1|NM_001203262.1|NM_001282406.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_001269335.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	206					protein homooligomerization (GO:0051260)			p.A206V(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			GTCTAGGACCGCCTTCCAGGG	0.498													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21732	0.0		0.0	False		,,,				2504	0.0				NSCLC(86;414 1416 18100 32729 49271)|Esophageal Squamous(156;1132 1858 11406 36132 46748)											1	Substitution - Missense(1)	ovary(1)	11											149.0	136.0	140.0					11																	77727790		2200	4292	6492	77405438	SO:0001583	missense	65987			BC001062	CCDS8255.2, CCDS60908.1	11q13.4	2013-06-20	2013-06-20		ENSG00000151364	ENSG00000151364			23295	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 14"""			12477932	Standard	NM_023930		Approved	MGC2376	uc001oyw.4	Q9BQ13	OTTHUMG00000150224	ENST00000353172.5:c.617C>T	11.37:g.77727790G>A	ENSP00000316482:p.Ala206Val		77405438	B2R9R8	Missense_Mutation	SNP	ENST00000353172.5	37	CCDS8255.2	SNP	38	Baylor	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	15.41	2.823903	0.50739	.	.	ENSG00000151364	ENST00000353172;ENST00000533144	T;T	0.68624	-0.34;-0.31	4.36	2.01	0.26516	.	0.696895	0.13622	N	0.374326	T	0.73682	0.3618	M	0.81802	2.56	0.51767	D	0.999933	D	0.64830	0.994	P	0.51615	0.675	T	0.72414	-0.4301	10	0.59425	D	0.04	.	9.6431	0.39850	0.1351:0.0:0.8649:0.0	.	206	Q9BQ13	KCD14_HUMAN	V	206;176	ENSP00000316482:A206V;ENSP00000431155:A176V	ENSP00000316482:A206V	A	-	2	0	KCTD14	77405438	1.000000	0.71417	0.029000	0.17559	0.197000	0.23852	4.767000	0.62286	0.230000	0.21059	0.561000	0.74099	GCG		0.498	KCTD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316888.1	NM_023930		Missense_Mutation
KCNJ1	3758	hgsc.bcm.edu	37	11	128709361	128709361	+	Missense_Mutation	SNP	A	A	T			TCGA-25-1625-01	TCGA-25-1625-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1625-01	TCGA-25-1625-10	g.chr11:128709361A>T	ENST00000392664.2	-	2	951	c.835T>A	c.(835-837)Ttc>Atc	p.F279I	KCNJ1_ENST00000324036.3_Missense_Mutation_p.F260I|KCNJ1_ENST00000440599.2_Missense_Mutation_p.F260I|KCNJ1_ENST00000392666.1_Missense_Mutation_p.F260I|KCNJ1_ENST00000392665.2_Missense_Mutation_p.F260I	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	279					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.F279I(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	GCCATGTGGAAGAAAGGGCTG	0.458																																																1	Substitution - Missense(1)	ovary(1)	11											76.0	75.0	75.0					11																	128709361		2201	4297	6498	128214571	SO:0001583	missense	3758			BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.835T>A	11.37:g.128709361A>T	ENSP00000376432:p.Phe279Ile		128214571	B2RMR4|Q6LD67	Missense_Mutation	SNP	ENST00000392664.2	37	CCDS8476.1	SNP	3	Baylor	.	.	.	.	.	.	.	.	.	.	A	24.8	4.574657	0.86542	.	.	ENSG00000151704	ENST00000392665;ENST00000392666;ENST00000440599;ENST00000324036;ENST00000392664	D;D;D;D;D	0.91792	-2.91;-2.91;-2.91;-2.91;-2.91	5.63	5.63	0.86233	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.153030	0.64402	D	0.000013	D	0.95928	0.8674	M	0.79805	2.47	0.80722	D	1	D	0.76494	0.999	D	0.71414	0.973	D	0.96458	0.9339	10	0.87932	D	0	.	15.8505	0.78927	1.0:0.0:0.0:0.0	.	279	P48048	IRK1_HUMAN	I	260;260;260;260;279	ENSP00000376433:F260I;ENSP00000376434:F260I;ENSP00000406320:F260I;ENSP00000316233:F260I;ENSP00000376432:F279I	ENSP00000316233:F260I	F	-	1	0	KCNJ1	128214571	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.339000	0.96797	2.137000	0.66172	0.460000	0.39030	TTC		0.458	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000386233.1	NM_000220		Missense_Mutation
KIT	3815	hgsc.bcm.edu	37	4	55593644	55593644	+	Nonsense_Mutation	SNP	C	C	A			TCGA-25-1625-01	TCGA-25-1625-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1625-01	TCGA-25-1625-10	g.chr4:55593644C>A	ENST00000288135.5	+	11	1807	c.1710C>A	c.(1708-1710)taC>taA	p.Y570*		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	570	Important for interaction with phosphotyrosine-binding proteins.				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)	p.Y570_L576del(9)|p.V560_L576del(4)|p.Y553_T574>S(3)|p.V555_I571del(3)|p.V555_P573del(3)|p.I563_L576del(2)|p.Q556_L576del(2)|p.W557_P573>S(2)|p.N564_Y578del(2)|p.W557_Q575del(2)|p.N564_L576del(2)|p.Y568_T574del(2)|p.Y568_L576>CV(1)|p.I563_D572del(1)|p.E562_P573del(1)|p.N564_T574del(1)|p.E554_I571del(1)|p.K558_Q575del(1)|p.V569_D572del(1)|p.V555_Y570del(1)|p.V569_L576del(1)|p.M552_T574>TESA(1)|p.Q556_T574del(1)|p.Q556_D572>PS(1)|p.E561_P577del(1)|p.Y570*(1)|p.Q556_D572del(1)|p.N564_P573>T(1)|p.V569_L576>G(1)|p.K558_L576>NV(1)|p.V559_P573>A(1)|p.V560_I571del(1)|p.W557_I571del(1)|p.V569_Q575del(1)|p.N564_P577del(1)|p.V559_L576del(1)|p.K558_D572del(1)|p.Q556_D572>H(1)|p.N567_L576>E(1)|p.M552_D572del(1)|p.V559_I571del(1)|p.Q556_P573del(1)|p.E554_D572del(1)|p.N567_P573del(1)|p.Y570_L576delYIDPTQL(1)|p.N564_P573>TS(1)		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)	ATTATGTTTACATAGACCCAA	0.393		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"""	70	Deletion - In frame(54)|Complex - deletion inframe(15)|Substitution - Nonsense(1)	soft_tissue(67)|ovary(1)|testis(1)|skin(1)	4											79.0	79.0	79.0					4																	55593644		2203	4300	6503	55288401	SO:0001587	stop_gained	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.1710C>A	4.37:g.55593644C>A	ENSP00000288135:p.Tyr570*		55288401	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Nonsense_Mutation	SNP	ENST00000288135.5	37	CCDS3496.1	SNP	17	Baylor	.	.	.	.	.	.	.	.	.	.	C	38	6.750295	0.97809	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	.	.	.	6.06	4.35	0.52113	.	0.000000	0.56097	D	0.000028	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0296	0.42092	0.0:0.7961:0.0:0.2039	.	.	.	.	X	570;566	.	ENSP00000288135:Y570X	Y	+	3	2	KIT	55288401	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	1.016000	0.29976	0.907000	0.36646	-0.136000	0.14681	TAC		0.393	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			Nonsense_Mutation
MPI	4351	hgsc.bcm.edu	37	15	75188494	75188494	+	Splice_Site	SNP	G	G	A			TCGA-25-1625-01	TCGA-25-1625-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1625-01	TCGA-25-1625-10	g.chr15:75188494G>A	ENST00000352410.4	+	6	739	c.672G>A	c.(670-672)gcG>gcA	p.A224A	MPI_ENST00000535694.1_Splice_Site_p.A174A|MPI_ENST00000564003.1_Splice_Site_p.T113T|MPI_ENST00000566377.1_Splice_Site_p.A224A|MPI_ENST00000563786.1_Splice_Site_p.A204A|MPI_ENST00000323744.6_Splice_Site_p.T163T|MPI_ENST00000563422.1_Splice_Site_p.A224A|MPI_ENST00000562606.1_Splice_Site_p.A204A			P34949	MPI_HUMAN	mannose phosphate isomerase	224					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|GDP-mannose biosynthetic process (GO:0009298)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	mannose-6-phosphate isomerase activity (GO:0004476)|zinc ion binding (GO:0008270)	p.A224A(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						GACCCTCAGCGGCTGCCGGAA	0.557																																																1	Substitution - coding silent(1)	ovary(1)	15											102.0	93.0	96.0					15																	75188494		2197	4295	6492	72975547	SO:0001630	splice_region_variant	4351				CCDS10272.1, CCDS73756.1, CCDS73757.1, CCDS73758.1	15q24.1	2013-09-19			ENSG00000178802	ENSG00000178802	5.3.1.8		7216	protein-coding gene	gene with protein product	"""mannose-6-phosphate isomerase"""	154550					Standard	NM_002435		Approved		uc002azc.1	P34949	OTTHUMG00000142826	ENST00000352410.4:c.671-1G>A	15.37:g.75188494G>A			72975547	A8K8K9|Q96AB0	Silent	SNP	ENST00000352410.4	37	CCDS10272.1	SNP	39	Baylor																																																																																				0.557	MPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286418.4		Silent	Silent
NAE1	8883	hgsc.bcm.edu	37	16	66842915	66842915	+	Missense_Mutation	SNP	T	T	G			TCGA-25-1625-01	TCGA-25-1625-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1625-01	TCGA-25-1625-10	g.chr16:66842915T>G	ENST00000290810.3	-	16	1311	c.1214A>C	c.(1213-1215)gAt>gCt	p.D405A	NAE1_ENST00000394074.2_Missense_Mutation_p.D316A|NAE1_ENST00000379463.2_Missense_Mutation_p.D399A|NAE1_ENST00000359087.4_Missense_Mutation_p.D408A			Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	405					mitotic DNA replication checkpoint (GO:0033314)|neuron apoptotic process (GO:0051402)|protein neddylation (GO:0045116)|regulation of apoptotic process (GO:0042981)|regulation of neuron apoptotic process (GO:0043523)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	catalytic activity (GO:0003824)|protein heterodimerization activity (GO:0046982)|ubiquitin protein ligase binding (GO:0031625)	p.D405A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	GTTAATTGTATCCAAACCATA	0.308																																																1	Substitution - Missense(1)	ovary(1)	16											88.0	83.0	85.0					16																	66842915		2200	4300	6500	65400416	SO:0001583	missense	8883			U50939	CCDS10820.1, CCDS42171.1, CCDS42172.1, CCDS67050.1	16q22	2013-09-26	2007-12-11	2007-12-11	ENSG00000159593	ENSG00000159593		"""Ubiquitin-like modifier activating enzymes"""	621	protein-coding gene	gene with protein product		603385	"""amyloid beta precursor protein binding protein 1, 59kDa"""	APPBP1		8626687, 12740388	Standard	XM_005256215		Approved	ula-1	uc002eqf.3	Q13564	OTTHUMG00000137513	ENST00000290810.3:c.1214A>C	16.37:g.66842915T>G	ENSP00000290810:p.Asp405Ala		65400416	A6NCK0|A6NFN4|A8MU28|B2R700|B3KUP9	Missense_Mutation	SNP	ENST00000290810.3	37	CCDS10820.1	SNP	50	Baylor	.	.	.	.	.	.	.	.	.	.	T	13.91	2.377126	0.42105	.	.	ENSG00000159593	ENST00000359087;ENST00000290810;ENST00000379463;ENST00000394074	T;T;T;T	0.39787	1.06;1.06;1.06;1.06	5.14	5.14	0.70334	Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.217835	0.45361	D	0.000361	T	0.24275	0.0588	N	0.11341	0.13	0.58432	D	0.999999	B;B;B	0.14438	0.0;0.01;0.0	B;B;B	0.11329	0.0;0.006;0.0	T	0.08472	-1.0720	10	0.13108	T	0.6	-12.7033	14.6507	0.68794	0.0:0.0:0.0:1.0	.	408;405;399	A6NCK0;Q13564;A6NFN4	.;ULA1_HUMAN;.	A	408;405;399;316	ENSP00000351990:D408A;ENSP00000290810:D405A;ENSP00000368776:D399A;ENSP00000377637:D316A	ENSP00000290810:D405A	D	-	2	0	NAE1	65400416	1.000000	0.71417	0.976000	0.42696	0.882000	0.50991	5.892000	0.69790	1.938000	0.56188	0.528000	0.53228	GAT		0.308	NAE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000268832.1	NM_003905		Missense_Mutation
NFKB1	4790	hgsc.bcm.edu	37	4	103505915	103505915	+	Missense_Mutation	SNP	G	G	A	rs143817570		TCGA-25-1625-01	TCGA-25-1625-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1625-01	TCGA-25-1625-10	g.chr4:103505915G>A	ENST00000505458.1	+	11	1278	c.1001G>A	c.(1000-1002)cGg>cAg	p.R334Q	NFKB1_ENST00000394820.4_Missense_Mutation_p.R334Q|NFKB1_ENST00000226574.4_Missense_Mutation_p.R335Q|NFKB1_ENST00000600343.1_Missense_Mutation_p.R154Q			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	334	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.R335Q(1)		biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	GTCCAGCTTCGGAGGAAATCT	0.358																																																1	Substitution - Missense(1)	ovary(1)	4						G	GLN/ARG,GLN/ARG	0,4406		0,0,2203	63.0	67.0	65.0		1001,1004	5.8	1.0	4	dbSNP_134	65	4,8596	3.7+/-12.6	0,4,4296	no	missense,missense	NFKB1	NM_001165412.1,NM_003998.3	43,43	0,4,6499	AA,AG,GG		0.0465,0.0,0.0308	possibly-damaging,possibly-damaging	334/969,335/970	103505915	4,13002	2203	4300	6503	103724953	SO:0001583	missense	4790			M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.1001G>A	4.37:g.103505915G>A	ENSP00000424790:p.Arg334Gln		103724953	A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Missense_Mutation	SNP	ENST00000505458.1	37	CCDS54783.1	SNP	39	Baylor	.	.	.	.	.	.	.	.	.	.	G	33	5.260394	0.95368	0.0	4.65E-4	ENSG00000109320	ENST00000226574;ENST00000394820;ENST00000505458;ENST00000508584	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.8	5.8	0.92144	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.139939	0.47852	N	0.000202	T	0.54415	0.1857	L	0.35341	1.055	0.48087	D	0.999581	D;D;D	0.89917	1.0;1.0;0.993	D;P;B	0.65684	0.937;0.827;0.365	T	0.45411	-0.9263	10	0.35671	T	0.21	.	20.051	0.97627	0.0:0.0:1.0:0.0	.	154;334;335	B3KVE8;P19838;P19838-2	.;NFKB1_HUMAN;.	Q	335;334;334;128	ENSP00000226574:R335Q;ENSP00000378297:R334Q;ENSP00000424790:R334Q;ENSP00000424815:R128Q	ENSP00000226574:R335Q	R	+	2	0	NFKB1	103724953	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	5.743000	0.68655	2.740000	0.93945	0.650000	0.86243	CGG		0.358	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000363411.1			Missense_Mutation
OR1E2	8388	hgsc.bcm.edu	37	17	3336793	3336793	+	Frame_Shift_Del	DEL	G	G	-			TCGA-25-1625-01	TCGA-25-1625-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1625-01	TCGA-25-1625-10	g.chr17:3336793delG	ENST00000248384.1	-	1	342	c.343delC	c.(343-345)cttfs	p.L115fs		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	115					sensory perception of chemical stimulus (GO:0007606)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)|receptor activity (GO:0004872)			endometrium(3)|large_intestine(3)|lung(3)	9						ATGGCCACAAGGAGGAAGCTC	0.532																																																0			17											95.0	79.0	84.0					17																	3336793		2203	4300	6503	3283543	SO:0001589	frameshift_variant	8388			U04686	CCDS11026.1	17p13.3	2012-08-09			ENSG00000127780	ENSG00000127780		"""GPCR / Class A : Olfactory receptors"""	8190	protein-coding gene	gene with protein product				OR1E4		8004088, 9500546	Standard	NM_003554		Approved	OR17-93, OR17-135	uc010vre.2	P47887	OTTHUMG00000090651	ENST00000248384.1:c.343delC	17.37:g.3336793delG	ENSP00000248384:p.Leu115fs		3283543	O43877|O95632|Q0VAD5|Q0VAD6|Q9UL13	Frame_Shift_Del	DEL	ENST00000248384.1	37	CCDS11026.1	DEL	35	Baylor																																																																																				0.532	OR1E2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207311.1			Frame_Shift_Del
OR2W1	26692	hgsc.bcm.edu	37	6	29012166	29012166	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1625-01	TCGA-25-1625-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1625-01	TCGA-25-1625-10	g.chr6:29012166C>A	ENST00000377175.1	-	1	851	c.787G>T	c.(787-789)Ggt>Tgt	p.G263C		NM_030903.3	NP_112165.1	Q9Y3N9	OR2W1_HUMAN	olfactory receptor, family 2, subfamily W, member 1	263						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G263C(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|skin(1)	23						GCCCTGTTACCTGGTTGCAGG	0.438																																																1	Substitution - Missense(1)	ovary(1)	6											138.0	114.0	123.0					6																	29012166		1511	2709	4220	29120145	SO:0001583	missense	26692			AL035402	CCDS4656.1	6p22.1	2012-08-09			ENSG00000204704	ENSG00000204704		"""GPCR / Class A : Olfactory receptors"""	8281	protein-coding gene	gene with protein product							Standard	NM_030903		Approved	hs6M1-15	uc003nlw.2	Q9Y3N9	OTTHUMG00000031048	ENST00000377175.1:c.787G>T	6.37:g.29012166C>A	ENSP00000366380:p.Gly263Cys		29120145	B0S7Y5|Q5JNZ1|Q6IEU0|Q96R17|Q9GZL0|Q9GZL1	Missense_Mutation	SNP	ENST00000377175.1	37	CCDS4656.1	SNP	24	Baylor	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812782	0.50527	.	.	ENSG00000204704	ENST00000377175	T	0.00115	8.71	4.79	3.85	0.44370	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000082	T	0.00210	0.0006	M	0.83012	2.62	0.30591	N	0.761538	D	0.89917	1.0	D	0.97110	1.0	T	0.04723	-1.0931	10	0.72032	D	0.01	.	6.5136	0.22236	0.0:0.6115:0.2892:0.0993	.	263	Q9Y3N9	OR2W1_HUMAN	C	263	ENSP00000366380:G263C	ENSP00000366380:G263C	G	-	1	0	OR2W1	29120145	0.000000	0.05858	1.000000	0.80357	0.980000	0.70556	-1.445000	0.02401	2.175000	0.68902	0.591000	0.81541	GGT		0.438	OR2W1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076053.2			Missense_Mutation
OTOF	9381	hgsc.bcm.edu	37	2	26683564	26683564	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1625-01	TCGA-25-1625-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1625-01	TCGA-25-1625-10	g.chr2:26683564T>C	ENST00000272371.2	-	45	5890	c.5764A>G	c.(5764-5766)Aac>Gac	p.N1922D	OTOF_ENST00000403946.3_Missense_Mutation_p.N1922D|OTOF_ENST00000338581.6_Missense_Mutation_p.N1155D|OTOF_ENST00000402415.3_Missense_Mutation_p.N1232D|OTOF_ENST00000339598.3_Missense_Mutation_p.N1155D	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1922					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.N1922D(1)|p.N1155D(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCACTGGGTTCTTCTCTGCC	0.642																																					GBM(102;732 1451 20652 24062 31372)											2	Substitution - Missense(2)	ovary(2)	2											60.0	63.0	62.0					2																	26683564		2203	4300	6503	26537068	SO:0001583	missense	9381			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.5764A>G	2.37:g.26683564T>C	ENSP00000272371:p.Asn1922Asp		26537068	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	CCDS1725.1	SNP	62	Baylor	.	.	.	.	.	.	.	.	.	.	t	15.88	2.964764	0.53507	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946;ENST00000361394	T;T;T;T;T	0.80393	-1.11;-1.11;-1.09;-1.36;-1.37	5.24	5.24	0.73138	.	0.201278	0.52532	D	0.000063	T	0.75824	0.3902	M	0.68952	2.095	0.34764	D	0.733034	P;B;B;B	0.37914	0.611;0.12;0.086;0.12	B;B;B;B	0.35727	0.118;0.209;0.031;0.209	T	0.79396	-0.1821	10	0.21540	T	0.41	-27.0864	10.8984	0.47036	0.1407:0.0:0.0:0.8593	.	1922;1155;1232;1155	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	D	1155;1155;1232;1922;1922;5	ENSP00000345137:N1155D;ENSP00000344521:N1155D;ENSP00000383906:N1232D;ENSP00000272371:N1922D;ENSP00000385255:N1922D	ENSP00000272371:N1922D	N	-	1	0	OTOF	26537068	1.000000	0.71417	0.989000	0.46669	0.724000	0.41520	2.773000	0.47686	1.975000	0.57531	0.375000	0.23000	AAC		0.642	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			Missense_Mutation
OTOF	9381	hgsc.bcm.edu	37	2	26683749	26683749	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1625-01	TCGA-25-1625-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1625-01	TCGA-25-1625-10	g.chr2:26683749G>A	ENST00000272371.2	-	44	5809	c.5683C>T	c.(5683-5685)Cgc>Tgc	p.R1895C	OTOF_ENST00000403946.3_Missense_Mutation_p.R1895C|OTOF_ENST00000338581.6_Missense_Mutation_p.R1128C|OTOF_ENST00000402415.3_Missense_Mutation_p.R1205C|OTOF_ENST00000339598.3_Missense_Mutation_p.R1128C	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1895					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)	p.R1895C(1)|p.R1128C(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCTCATTGCGGGCCAGGAGG	0.647																																					GBM(102;732 1451 20652 24062 31372)											2	Substitution - Missense(2)	ovary(2)	2											84.0	70.0	75.0					2																	26683749		2203	4300	6503	26537253	SO:0001583	missense	9381			AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.5683C>T	2.37:g.26683749G>A	ENSP00000272371:p.Arg1895Cys		26537253	B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Missense_Mutation	SNP	ENST00000272371.2	37	CCDS1725.1	SNP	39	Baylor	.	.	.	.	.	.	.	.	.	.	g	23.2	4.390805	0.82902	.	.	ENSG00000115155	ENST00000338581;ENST00000339598;ENST00000402415;ENST00000272371;ENST00000403946	T;T;T;T;T	0.80738	-1.16;-1.16;-1.15;-1.41;-1.41	4.73	4.73	0.59995	C2 calcium/lipid-binding domain, CaLB (1);	0.057984	0.64402	D	0.000003	D	0.86058	0.5842	M	0.67953	2.075	0.58432	D	0.999999	D;D;D;D	0.76494	0.999;0.973;0.999;0.987	P;P;P;P	0.62184	0.855;0.781;0.899;0.781	D	0.86773	0.1974	10	0.56958	D	0.05	-16.6433	11.7171	0.51659	0.0:0.0:0.7054:0.2946	.	1895;1128;1205;1128	Q9HC10;Q9HC10-2;Q9HC10-3;Q9HC10-4	OTOF_HUMAN;.;.;.	C	1128;1128;1205;1895;1895	ENSP00000345137:R1128C;ENSP00000344521:R1128C;ENSP00000383906:R1205C;ENSP00000272371:R1895C;ENSP00000385255:R1895C	ENSP00000272371:R1895C	R	-	1	0	OTOF	26537253	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.528000	0.53524	2.180000	0.69256	0.457000	0.33378	CGC		0.647	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			Missense_Mutation
PCOLCE	5118	hgsc.bcm.edu	37	7	100205413	100205414	+	Frame_Shift_Ins	INS	-	-	C	rs538448756		TCGA-25-1625-01	TCGA-25-1625-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1625-01	TCGA-25-1625-10	g.chr7:100205413_100205414insC	ENST00000223061.5	+	8	1446_1447	c.1166_1167insC	c.(1165-1170)tgccccfs	p.CP389fs		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	389	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)	p.M392fs*>59(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					TGCAAGCAGTGCCCCCCCATGA	0.51																																																2	Insertion - Frameshift(2)	ovary(1)|large_intestine(1)	7																																								100043350	SO:0001589	frameshift_variant	5118			L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"""procollagen, type 1, COOH-terminal proteinase enhancer"", ""procollagen C-proteinase enhancer 1"""	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.1173dupC	7.37:g.100205420_100205420dupC	ENSP00000223061:p.Cys389fs		100043349	B2R9E1|O14550	Frame_Shift_Ins	INS	ENST00000223061.5	37	CCDS5700.1	INS	46	Baylor																																																																																				0.510	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593		Frame_Shift_Ins
PREX2	80243	hgsc.bcm.edu	37	8	69005891	69005891	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1625-01	TCGA-25-1625-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1625-01	TCGA-25-1625-10	g.chr8:69005891C>A	ENST00000288368.4	+	21	2579	c.2302C>A	c.(2302-2304)Ctt>Att	p.L768I	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	768					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)	p.L768I(1)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TCAAGAAGACCTTCAAAAATC	0.408																																																1	Substitution - Missense(1)	ovary(1)	8											116.0	117.0	116.0					8																	69005891		2203	4300	6503	69168445	SO:0001583	missense	80243			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2302C>A	8.37:g.69005891C>A	ENSP00000288368:p.Leu768Ile		69168445	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	CCDS6201.1	SNP	24	Baylor	.	.	.	.	.	.	.	.	.	.	C	12.04	1.818419	0.32145	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.35605	1.3	5.66	4.76	0.60689	.	0.214588	0.41500	N	0.000868	T	0.17619	0.0423	N	0.03115	-0.41	0.26568	N	0.973601	B;B;B	0.16802	0.019;0.0;0.001	B;B;B	0.12837	0.008;0.0;0.003	T	0.12889	-1.0530	10	0.22706	T	0.39	.	13.363	0.60667	0.2958:0.7042:0.0:0.0	.	768;768;768	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	I	768	ENSP00000288368:L768I	ENSP00000288368:L768I	L	+	1	0	PREX2	69168445	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.710000	0.47169	1.325000	0.45301	0.650000	0.86243	CTT		0.408	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1	NM_025170		Missense_Mutation
RENBP	5973	hgsc.bcm.edu	37	X	153205628	153205628	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1625-01	TCGA-25-1625-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1625-01	TCGA-25-1625-10	g.chrX:153205628A>G	ENST00000393700.3	-	9	1084	c.1004T>C	c.(1003-1005)aTg>aCg	p.M335T	RENBP_ENST00000412763.1_3'UTR|RENBP_ENST00000369997.3_Missense_Mutation_p.M321T|RENBP_ENST00000462086.1_5'Flank	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	335					N-acetylglucosamine metabolic process (GO:0006044)|N-acetylmannosamine metabolic process (GO:0006051)|N-acetylneuraminate catabolic process (GO:0019262)|regulation of blood pressure (GO:0008217)	extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|endopeptidase inhibitor activity (GO:0004866)|N-acylglucosamine 2-epimerase activity (GO:0050121)	p.M335T(1)|p.M325T(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	ACTGTAACCCATGAGGAAGGC	0.597																																																2	Substitution - Missense(2)	ovary(2)	X											132.0	92.0	106.0					X																	153205628		2203	4300	6503	152858822	SO:0001583	missense	5973				CCDS14738.2	Xq28	2013-09-23	2001-11-28		ENSG00000102032	ENSG00000102032			9959	protein-coding gene	gene with protein product	"""N-acylglucosamine 2-epimerase"", ""GlcNAc 2-epimerase"", ""N-acetyl-D-glucosamine 2-epimerase"""	312420	"""renin-binding protein"""			1618798	Standard	NM_002910		Approved	RNBP, RBP	uc004fjo.2	P51606	OTTHUMG00000024224	ENST00000393700.3:c.1004T>C	X.37:g.153205628A>G	ENSP00000377303:p.Met335Thr		152858822	B4DNZ3|Q96BI6	Missense_Mutation	SNP	ENST00000393700.3	37	CCDS14738.2	SNP	8	Baylor	.	.	.	.	.	.	.	.	.	.	A	18.48	3.633427	0.67015	.	.	ENSG00000102032	ENST00000393700;ENST00000369997;ENST00000451114	T;T;T	0.28454	1.61;1.61;1.61	4.79	4.79	0.61399	Six-hairpin glycosidase (1);Six-hairpin glycosidase-like (1);	0.043583	0.85682	D	0.000000	T	0.54886	0.1886	M	0.78637	2.42	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.58607	-0.7607	10	0.52906	T	0.07	-26.0806	12.6466	0.56738	1.0:0.0:0.0:0.0	.	335	P51606	RENBP_HUMAN	T	335;321;14	ENSP00000377303:M335T;ENSP00000359014:M321T;ENSP00000409034:M14T	ENSP00000359014:M321T	M	-	2	0	RENBP	152858822	1.000000	0.71417	1.000000	0.80357	0.876000	0.50452	5.322000	0.65852	1.693000	0.51124	0.486000	0.48141	ATG		0.597	RENBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061103.3	NM_002910		Missense_Mutation
SAMD9L	219285	hgsc.bcm.edu	37	7	92763520	92763520	+	Nonsense_Mutation	SNP	G	G	A			TCGA-25-1625-01	TCGA-25-1625-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1625-01	TCGA-25-1625-10	g.chr7:92763520G>A	ENST00000318238.4	-	5	2981	c.1765C>T	c.(1765-1767)Cga>Tga	p.R589*	SAMD9L_ENST00000437805.1_Nonsense_Mutation_p.R589*|SAMD9L_ENST00000411955.1_Nonsense_Mutation_p.R589*	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	589					common myeloid progenitor cell proliferation (GO:0035726)|endosomal vesicle fusion (GO:0034058)|hematopoietic progenitor cell differentiation (GO:0002244)|regulation of protein catabolic process (GO:0042176)|spleen development (GO:0048536)|stem cell division (GO:0017145)	early endosome (GO:0005769)		p.R589*(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTTTCCATCGTTGATAAATA	0.358																																																1	Substitution - Nonsense(1)	ovary(1)	7											77.0	75.0	76.0					7																	92763520		2203	4298	6501	92601456	SO:0001587	stop_gained	219285			AB095926	CCDS34681.1	7q21.2	2013-01-10		2005-04-26	ENSG00000177409	ENSG00000177409		"""Sterile alpha motif (SAM) domain containing"""	1349	protein-coding gene	gene with protein product		611170	"""chromosome 7 open reading frame 6"""	C7orf6			Standard	NM_152703		Approved	KIAA2005, FLJ39885	uc003umh.1	Q8IVG5	OTTHUMG00000155807	ENST00000318238.4:c.1765C>T	7.37:g.92763520G>A	ENSP00000326247:p.Arg589*		92601456	A0JP23|A0JP24|A0PJG8|A4D1G8|D6W5Q6|Q2TV71|Q2TV75|Q2UZV8|Q8IWI4|Q8N3L9|Q8N875	Nonsense_Mutation	SNP	ENST00000318238.4	37	CCDS34681.1	SNP	40	Baylor	.	.	.	.	.	.	.	.	.	.	G	44	11.111365	0.99517	.	.	ENSG00000177409	ENST00000318238;ENST00000411955;ENST00000437805	.	.	.	4.75	3.85	0.44370	.	0.727847	0.12233	N	0.487234	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-3.5351	9.7496	0.40468	0.0:0.1534:0.6876:0.159	.	.	.	.	X	589	.	ENSP00000326247:R589X	R	-	1	2	SAMD9L	92601456	0.000000	0.05858	0.101000	0.21167	0.095000	0.18619	-0.331000	0.07914	1.194000	0.43101	0.467000	0.42956	CGA		0.358	SAMD9L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341730.1	NM_152703		Nonsense_Mutation
SLC4A7	9497	hgsc.bcm.edu	37	3	27498166	27498166	+	Silent	SNP	T	T	C			TCGA-25-1625-01	TCGA-25-1625-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1625-01	TCGA-25-1625-10	g.chr3:27498166T>C	ENST00000295736.5	-	1	79	c.9A>G	c.(7-9)agA>agG	p.R3R	SLC4A7_ENST00000455077.1_Intron|SLC4A7_ENST00000435667.2_Intron|SLC4A7_ENST00000437179.1_Intron|SLC4A7_ENST00000388777.4_Intron|SLC4A7_ENST00000454389.1_Intron|SLC4A7_ENST00000445684.1_Intron|SLC4A7_ENST00000440156.1_Intron|SLC4A7_ENST00000425128.2_Intron|SLC4A7_ENST00000446700.1_Intron|SLC4A7_ENST00000428386.1_Silent_p.R3R	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	3					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)	p.R3R(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	CCAGACGAAATCTTTCCATAG	0.348																																																1	Substitution - coding silent(1)	ovary(1)	3											130.0	129.0	130.0					3																	27498166		2202	4300	6502	27473170	SO:0001819	synonymous_variant	9497			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.9A>G	3.37:g.27498166T>C			27473170	A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Silent	SNP	ENST00000295736.5	37	CCDS33721.1	SNP	50	Baylor																																																																																				0.348	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000341230.2	NM_003615		Silent
SLIT3	6586	hgsc.bcm.edu	37	5	168111062	168111062	+	Nonsense_Mutation	SNP	C	C	A			TCGA-25-1625-01	TCGA-25-1625-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1625-01	TCGA-25-1625-10	g.chr5:168111062C>A	ENST00000519560.1	-	32	4014	c.3595G>T	c.(3595-3597)Gga>Tga	p.G1199*	SLIT3_ENST00000404867.3_Nonsense_Mutation_p.G1199*|SLIT3_ENST00000332966.8_Nonsense_Mutation_p.G1206*	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1199	Laminin G-like. {ECO:0000255|PROSITE- ProRule:PRU00122}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)	p.G1199*(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCATTGTCTCCTTTGTAGAGA	0.587																																					Ovarian(29;311 847 10864 17279 24903)											1	Substitution - Nonsense(1)	ovary(1)	5											115.0	106.0	109.0					5																	168111062		2203	4300	6503	168043640	SO:0001587	stop_gained	6586			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3595G>T	5.37:g.168111062C>A	ENSP00000430333:p.Gly1199*		168043640	A6H8U9|J3KNP3|O95804|Q9UFH5	Nonsense_Mutation	SNP	ENST00000519560.1	37	CCDS4369.1	SNP	24	Baylor	.	.	.	.	.	.	.	.	.	.	C	42	9.783968	0.99263	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	.	.	.	5.27	5.27	0.74061	.	0.096805	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.9135	0.92494	0.0:1.0:0.0:0.0	.	.	.	.	X	1199;1206;1199	.	ENSP00000332164:G1206X	G	-	1	0	SLIT3	168043640	0.995000	0.38212	1.000000	0.80357	0.973000	0.67179	5.986000	0.70563	2.465000	0.83290	0.655000	0.94253	GGA		0.587	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252792.4	NM_003062		Nonsense_Mutation
SRRM2	23524	hgsc.bcm.edu	37	16	2813120	2813120	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1625-01	TCGA-25-1625-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1625-01	TCGA-25-1625-10	g.chr16:2813120C>T	ENST00000301740.8	+	11	3140	c.2591C>T	c.(2590-2592)tCt>tTt	p.S864F		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	864	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.S864F(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AATGAGCAATCTGTAACGCCA	0.493																																																1	Substitution - Missense(1)	ovary(1)	16											112.0	106.0	108.0					16																	2813120		2198	4300	6498	2753121	SO:0001583	missense	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2591C>T	16.37:g.2813120C>T	ENSP00000301740:p.Ser864Phe		2753121	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	ENST00000301740.8	37	CCDS32373.1	SNP	32	Baylor	.	.	.	.	.	.	.	.	.	.	C	7.638	0.680358	0.14907	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933;ENST00000426305	T	0.27557	1.66	5.57	5.57	0.84162	.	0.304911	0.28983	N	0.013509	T	0.34861	0.0912	L	0.43923	1.385	0.29482	N	0.856252	P	0.37864	0.61	B	0.41988	0.372	T	0.35251	-0.9796	10	0.87932	D	0	-8.4816	17.0358	0.86474	0.0:1.0:0.0:0.0	.	864	Q9UQ35	SRRM2_HUMAN	F	864;864;116;829	ENSP00000301740:S864F	ENSP00000301740:S864F	S	+	2	0	SRRM2	2753121	0.469000	0.25846	0.531000	0.27976	0.307000	0.27823	3.000000	0.49481	2.628000	0.89032	0.650000	0.86243	TCT		0.493	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436411.1			Missense_Mutation
TMPRSS11B	132724	hgsc.bcm.edu	37	4	69096980	69096980	+	Nonsense_Mutation	SNP	G	G	T	rs146528530	byFrequency	TCGA-25-1625-01	TCGA-25-1625-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1625-01	TCGA-25-1625-10	g.chr4:69096980G>T	ENST00000332644.5	-	7	788	c.627C>A	c.(625-627)taC>taA	p.Y209*		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	209	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)	p.Y209*(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						AGGCTCCACAGTAGTGACGGC	0.478																																																1	Substitution - Nonsense(1)	ovary(1)	4											72.0	72.0	72.0					4																	69096980		2203	4300	6503	68779575	SO:0001587	stop_gained	132724			BX537945	CCDS3521.1	4q13.2	2010-04-13			ENSG00000185873	ENSG00000185873		"""Serine peptidases / Transmembrane"""	25398	protein-coding gene	gene with protein product							Standard	NM_182502		Approved		uc003hdw.4	Q86T26	OTTHUMG00000129301	ENST00000332644.5:c.627C>A	4.37:g.69096980G>T	ENSP00000330475:p.Tyr209*		68779575	A8K4D9	Nonsense_Mutation	SNP	ENST00000332644.5	37	CCDS3521.1	SNP	36	Baylor	.	.	.	.	.	.	.	.	.	.	G	14.58	2.578005	0.45902	.	.	ENSG00000185873	ENST00000332644	.	.	.	4.34	-1.8	0.07907	.	2.429920	0.02542	N	0.094715	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	1.6321	0.02734	0.4376:0.1384:0.2829:0.1411	.	.	.	.	X	209	.	ENSP00000330475:Y209X	Y	-	3	2	TMPRSS11B	68779575	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-0.405000	0.07196	-0.594000	0.05836	-0.133000	0.14855	TAC		0.478	TMPRSS11B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251431.2	NM_182502		Nonsense_Mutation
TP53	7157	hgsc.bcm.edu	37	17	7578203	7578203	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1625-01	TCGA-25-1625-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_III	Capture	Unknown	.	.	SOLID	TCGA-25-1625-01	TCGA-25-1625-10	g.chr17:7578203C>T	ENST00000269305.4	-	6	835	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	TP53_ENST00000359597.4_Missense_Mutation_p.V216M|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.V216M|TP53_ENST00000445888.2_Missense_Mutation_p.V216M|TP53_ENST00000420246.2_Missense_Mutation_p.V216M|TP53_ENST00000455263.2_Missense_Mutation_p.V216M	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	216	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.V216M(61)|p.V216del(8)|p.0?(8)|p.V216L(7)|p.?(5)|p.V84M(3)|p.V123M(3)|p.V216fs*6(2)|p.H214fs*5(2)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(1)|p.S215_V218>M(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)	GGCACCACCACACTATGTCGA	0.537		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"""	113	Substitution - Missense(74)|Deletion - In frame(11)|Deletion - Frameshift(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(4)|Complex - deletion inframe(2)|Insertion - In frame(1)	breast(17)|lung(14)|haematopoietic_and_lymphoid_tissue(12)|ovary(12)|upper_aerodigestive_tract(10)|large_intestine(9)|oesophagus(9)|biliary_tract(5)|central_nervous_system(5)|bone(5)|stomach(4)|liver(4)|pancreas(3)|soft_tissue(2)|urinary_tract(1)|skin(1)	17	GRCh37	CX952222	TP53	X							123.0	111.0	115.0					17																	7578203		2203	4300	6503	7518928	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.646G>A	17.37:g.7578203C>T	ENSP00000269305:p.Val216Met		7518928	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	SNP	17	Baylor	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958421	0.92726	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.28	5.28	0.74379	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	0.99889	0.9947	M	0.92169	3.28	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.996;1.0;1.0;1.0;1.0	D	0.96411	0.9304	10	0.87932	D	0	-12.2832	16.7921	0.85592	0.0:1.0:0.0:0.0	.	177;216;216;123;216;216;216	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	M	216;216;216;216;216;216;205;123;84;123;84	ENSP00000410739:V216M;ENSP00000352610:V216M;ENSP00000269305:V216M;ENSP00000398846:V216M;ENSP00000391127:V216M;ENSP00000391478:V216M;ENSP00000425104:V84M;ENSP00000423862:V123M	ENSP00000269305:V216M	V	-	1	0	TP53	7518928	1.000000	0.71417	0.978000	0.43139	0.971000	0.66376	7.775000	0.85489	2.634000	0.89283	0.563000	0.77884	GTG		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		Missense_Mutation
