#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_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
ANK2	287	hgsc.bcm.edu	37	4	114179539	114179539	+	Missense_Mutation	SNP	A	A	G			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr4:114179539A>G	ENST00000357077.4	+	13	1411	c.1358A>G	c.(1357-1359)aAc>aGc	p.N453S	ANK2_ENST00000264366.6_Missense_Mutation_p.N453S|ANK2_ENST00000394537.3_Missense_Mutation_p.N453S|ANK2_ENST00000506722.1_Missense_Mutation_p.N432S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	453					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.N453S(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTGCTGCAGAACGGAGCCTCT	0.502																																																1	Substitution - Missense(1)	ovary(1)	4											144.0	134.0	137.0					4																	114179539		2203	4300	6503	114398988	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.1358A>G	4.37:g.114179539A>G	ENSP00000349588:p.Asn453Ser		114398988	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	ENST00000357077.4	37	CCDS3702.1	.	.	.	.	.	.	.	.	.	.	A	14.24	2.477094	0.44044	.	.	ENSG00000145362	ENST00000503271;ENST00000503423;ENST00000506722;ENST00000504454;ENST00000394537;ENST00000357077;ENST00000264366;ENST00000343056	T;T;T;T;T;T;T	0.65916	-0.11;-0.11;-0.11;-0.18;-0.11;-0.11;-0.11	5.57	5.57	0.84162	Ankyrin repeat-containing domain (3);	0.000000	0.64402	D	0.000012	T	0.49729	0.1574	N	0.16201	0.385	0.80722	D	1	B;B;B;B;B	0.28324	0.201;0.035;0.078;0.036;0.207	B;B;B;B;B	0.32393	0.145;0.09;0.061;0.09;0.135	T	0.53858	-0.8379	10	0.72032	D	0.01	.	15.7332	0.77822	1.0:0.0:0.0:0.0	.	453;453;453;432;432	Q01484;Q01484-2;Q01484-4;Q01484-5;F8WEF9	ANK2_HUMAN;.;.;.;.	S	432;432;432;468;453;453;453;432	ENSP00000423799:N432S;ENSP00000421011:N432S;ENSP00000421067:N432S;ENSP00000424722:N468S;ENSP00000378044:N453S;ENSP00000349588:N453S;ENSP00000264366:N453S	ENSP00000264366:N453S	N	+	2	0	ANK2	114398988	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.314000	0.65804	2.119000	0.64992	0.460000	0.39030	AAC		0.502	ANK2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256422.2	NM_001148	
ARHGEF12	23365	hgsc.bcm.edu	37	11	120350701	120350701	+	Silent	SNP	C	C	T			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr11:120350701C>T	ENST00000397843.2	+	38	3965	c.3799C>T	c.(3799-3801)Cta>Tta	p.L1267L	ARHGEF12_ENST00000532993.1_Silent_p.L1164L|ARHGEF12_ENST00000356641.3_Silent_p.L1248L	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1267					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.L1267L(1)		NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		GGTGCAACAGCTAGGTTTGAC	0.463			T	MLL	AML																																		Dom	yes		11	11q23.3	23365	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)		L	1	Substitution - coding silent(1)	ovary(1)	11											132.0	121.0	124.0					11																	120350701		1867	4099	5966	119855911	SO:0001819	synonymous_variant	23365			AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3799C>T	11.37:g.120350701C>T			119855911	O15086|Q6P526	Silent	SNP	ENST00000397843.2	37	CCDS41727.1																																																																																				0.463	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313	
BIRC6	57448	hgsc.bcm.edu	37	2	32828095	32828095	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr2:32828095C>T	ENST00000421745.2	+	71	14149	c.14015C>T	c.(14014-14016)aCg>aTg	p.T4672M		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4672	Ubiquitin-conjugating.				apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)	p.T4644M(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATCTTAAACACGTGGCATGGA	0.338																																					Pancreas(94;175 1509 16028 18060 45422)											1	Substitution - Missense(1)	ovary(1)	2											110.0	103.0	105.0					2																	32828095		2203	4300	6503	32681599	SO:0001583	missense	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.14015C>T	2.37:g.32828095C>T	ENSP00000393596:p.Thr4672Met		32681599	Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	C	28.4	4.919134	0.92249	.	.	ENSG00000115760	ENST00000421745	T	0.38887	1.11	5.23	5.23	0.72850	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.67776	0.2929	M	0.77406	2.37	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.71686	-0.4518	10	0.87932	D	0	.	19.1928	0.93674	0.0:1.0:0.0:0.0	.	4672	Q9NR09	BIRC6_HUMAN	M	4672	ENSP00000393596:T4672M	ENSP00000393596:T4672M	T	+	2	0	BIRC6	32681599	1.000000	0.71417	0.960000	0.40013	0.983000	0.72400	7.694000	0.84235	2.596000	0.87737	0.655000	0.94253	ACG		0.338	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252	
DCST2	127579	hgsc.bcm.edu	37	1	154999074	154999074	+	Missense_Mutation	SNP	C	C	A	rs201423942		TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr1:154999074C>A	ENST00000368424.3	-	9	1518	c.1460G>T	c.(1459-1461)cGt>cTt	p.R487L	DCST2_ENST00000295536.5_Missense_Mutation_p.R487L	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	487						integral component of membrane (GO:0016021)		p.R487L(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AAGGAGACAACGCCGGGACAA	0.532																																																1	Substitution - Missense(1)	ovary(1)	1											143.0	136.0	138.0					1																	154999074		2203	4300	6503	153265698	SO:0001583	missense	127579			AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.1460G>T	1.37:g.154999074C>A	ENSP00000357409:p.Arg487Leu		153265698	Q2M2R2|Q8N810|Q96M03	Missense_Mutation	SNP	ENST00000368424.3	37	CCDS1082.2	.	.	.	.	.	.	.	.	.	.	C	14.19	2.462772	0.43736	.	.	ENSG00000163354	ENST00000368424;ENST00000295536	T;T	0.32272	1.46;1.46	4.96	4.04	0.47022	Dendritic cell-specific transmembrane protein-like (1);	0.246447	0.30901	N	0.008650	T	0.20414	0.0491	M	0.73598	2.24	0.36149	D	0.847323	P	0.44521	0.837	B	0.42916	0.402	T	0.04900	-1.0919	10	0.28530	T	0.3	-19.7931	10.3516	0.43939	0.0:0.907:0.0:0.093	.	487	Q5T1A1	DCST2_HUMAN	L	487	ENSP00000357409:R487L;ENSP00000295536:R487L	ENSP00000295536:R487L	R	-	2	0	DCST2	153265698	0.995000	0.38212	0.203000	0.23512	0.766000	0.43426	0.703000	0.25646	1.081000	0.41110	0.591000	0.81541	CGT		0.532	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090953.3	NM_144622	
EPHB3	2049	hgsc.bcm.edu	37	3	184295724	184295724	+	Missense_Mutation	SNP	A	A	C	rs148220856		TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr3:184295724A>C	ENST00000330394.2	+	8	2130	c.1678A>C	c.(1678-1680)Atc>Ctc	p.I560L	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	560					angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)	p.I560L(1)		breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCTTCCCCTCATCGTGGGCTC	0.637																																																1	Substitution - Missense(1)	ovary(1)	3											111.0	104.0	106.0					3																	184295724		2203	4300	6503	185778418	SO:0001583	missense	2049			X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1678A>C	3.37:g.184295724A>C	ENSP00000332118:p.Ile560Leu		185778418	Q7Z740	Missense_Mutation	SNP	ENST00000330394.2	37	CCDS3268.1	.	.	.	.	.	.	.	.	.	.	A	19.63	3.863287	0.71949	.	.	ENSG00000182580	ENST00000330394	T	0.11930	2.73	5.04	5.04	0.67666	.	0.058505	0.64402	D	0.000003	T	0.14917	0.0360	L	0.52206	1.635	0.80722	D	1	B	0.27380	0.177	B	0.23716	0.048	T	0.02450	-1.1157	10	0.44086	T	0.13	.	13.9489	0.64104	1.0:0.0:0.0:0.0	.	560	P54753	EPHB3_HUMAN	L	560	ENSP00000332118:I560L	ENSP00000332118:I560L	I	+	1	0	EPHB3	185778418	1.000000	0.71417	0.994000	0.49952	0.954000	0.61252	9.280000	0.95786	1.892000	0.54788	0.368000	0.22195	ATC		0.637	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345413.1	NM_004443	
H3F3B	3021	hgsc.bcm.edu	37	17	73775203	73775204	+	Frame_Shift_Ins	INS	-	-	G			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr17:73775203_73775204insG	ENST00000254810.4	-	2	184_185	c.52_53insC	c.(52-54)cgcfs	p.R18fs	H3F3B_ENST00000587560.1_Frame_Shift_Ins_p.R18fs|H3F3B_ENST00000586607.1_Frame_Shift_Ins_p.R18fs|H3F3B_ENST00000589599.1_Frame_Shift_Ins_p.R18fs|H3F3B_ENST00000593254.1_Intron|H3F3B_ENST00000592643.1_Frame_Shift_Ins_p.R18fs|H3F3B_ENST00000591890.1_Frame_Shift_Ins_p.R18fs	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)	18					blood coagulation (GO:0007596)|brain development (GO:0007420)|DNA replication-independent nucleosome assembly (GO:0006336)|positive regulation of cell growth (GO:0030307)|response to hormone (GO:0009725)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|nuclear chromosome (GO:0000228)|nuclear nucleosome (GO:0000788)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	nucleosomal DNA binding (GO:0031492)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)	p.R18fs*80(2)		large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGCTGTTTGCGGGGGGCTTTC	0.614											OREG0024740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				2	Insertion - Frameshift(2)	ovary(1)|large_intestine(1)	17																																								71286799	SO:0001589	frameshift_variant	3021			Z48950	CCDS11729.1	17q25.1	2011-06-01			ENSG00000132475	ENSG00000132475		"""Histones / Replication-independent"""	4765	protein-coding gene	gene with protein product		601058				8586426	Standard	NM_005324		Approved	H3.3B	uc002jpl.3	P84243		ENST00000254810.4:c.53dupC	17.37:g.73775209_73775209dupG	ENSP00000254810:p.Arg18fs	1147	71286798	P06351|P33155|Q5VV55|Q5VV56|Q66I33|Q9V3W4	Frame_Shift_Ins	INS	ENST00000254810.4	37	CCDS11729.1																																																																																				0.614	H3F3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448499.1	NM_005324	
HAVCR1	26762	hgsc.bcm.edu	37	5	156479568	156479569	+	In_Frame_Ins	INS	-	-	GTT	rs386693994|rs139041445|rs6149307|rs10068551|rs141023871|rs77147640|rs376729615	byFrequency	TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr5:156479568_156479569insGTT	ENST00000339252.3	-	3	1008_1009	c.476_477insAAC	c.(475-477)acg>acAACg	p.159_159T>TT	HAVCR1_ENST00000425854.1_In_Frame_Ins_p.159_159T>TT|HAVCR1_ENST00000544197.1_In_Frame_Ins_p.159_159T>TT|HAVCR1_ENST00000523175.1_In_Frame_Ins_p.159_159T>TT|HAVCR1_ENST00000522693.1_In_Frame_Ins_p.159_159T>TT	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	0	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)	p.T160_V161insT(1)		endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGGAACAGTCGTCATTGGAAC	0.49														1655	0.330471	0.6165	0.2363	5008	,	,		22483	0.2232		0.2097	False		,,,				2504	0.2454															1	Insertion - In frame(1)	ovary(1)	5																																								156412147	SO:0001652	inframe_insertion	26762			AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"""Immunoglobulin superfamily / V-set domain containing"""	17866	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 1"""	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.476_477insAAC	5.37:g.156479568_156479569insGTT	ENSP00000344844:p.Thr160dup		156412146	O43656	In_Frame_Ins	INS	ENST00000339252.3	37	CCDS43392.1																																																																																				0.490	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373698.1		
HMCN1	83872	hgsc.bcm.edu	37	1	186121953	186121953	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr1:186121953G>T	ENST00000271588.4	+	96	15197	c.14968G>T	c.(14968-14970)Gtg>Ttg	p.V4990L	HMCN1_ENST00000367492.2_Missense_Mutation_p.V4990L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4990	Nidogen G2 beta-barrel. {ECO:0000255|PROSITE-ProRule:PRU00348}.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)	p.V4990L(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGATATCGTTGTGAGTGGCTA	0.428																																																1	Substitution - Missense(1)	ovary(1)	1											239.0	208.0	219.0					1																	186121953		2203	4300	6503	184388576	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.14968G>T	1.37:g.186121953G>T	ENSP00000271588:p.Val4990Leu		184388576	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	G	17.21	3.331028	0.60853	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.19394	2.15;2.15	5.8	4.87	0.63330	G2 nidogen/fibulin G2F (2);Green fluorescent protein-like (1);	0.053942	0.64402	N	0.000001	T	0.15652	0.0377	N	0.25890	0.77	0.53005	D	0.99996	B	0.25048	0.117	B	0.25884	0.064	T	0.04796	-1.0926	10	0.44086	T	0.13	.	10.956	0.47358	0.0695:0.1313:0.7992:0.0	.	4990	Q96RW7	HMCN1_HUMAN	L	4990	ENSP00000271588:V4990L;ENSP00000356462:V4990L	ENSP00000271588:V4990L	V	+	1	0	HMCN1	184388576	1.000000	0.71417	0.881000	0.34555	0.988000	0.76386	3.743000	0.55104	1.415000	0.47037	0.650000	0.86243	GTG		0.428	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1	NM_031935	
HYDIN	54768	hgsc.bcm.edu	37	16	71061565	71061565	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr16:71061565C>T	ENST00000393567.2	-	20	3132	c.2982G>A	c.(2980-2982)atG>atA	p.M994I	HYDIN_ENST00000448089.2_Missense_Mutation_p.M994I|HYDIN_ENST00000448691.1_Missense_Mutation_p.M994I|HYDIN_ENST00000321489.5_Missense_Mutation_p.M994I	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	994					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)		p.M994I(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGTACAGCTCCATGCTGGCGG	0.542																																																2	Substitution - Missense(2)	ovary(2)	16											11.0	11.0	11.0					16																	71061565		2118	4262	6380	69619066	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.2982G>A	16.37:g.71061565C>T	ENSP00000377197:p.Met994Ile		69619066	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	ENST00000393567.2	37	CCDS59269.1	.	.	.	.	.	.	.	.	.	.	C	16.90	3.248975	0.59103	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489	T;T;T;T	0.41065	1.01;3.25;3.25;3.25	4.85	4.85	0.62838	.	0.000000	0.39615	U	0.001315	T	0.47060	0.1425	L	0.46947	1.48	0.80722	D	1	P;P	0.41450	0.728;0.75	P;P	0.48334	0.491;0.574	T	0.27872	-1.0061	10	0.22706	T	0.39	.	17.6084	0.88045	0.0:1.0:0.0:0.0	.	994;994	Q4G0P3-5;F8WD23	.;.	I	994	ENSP00000377197:M994I;ENSP00000398544:M994I;ENSP00000394826:M994I;ENSP00000314736:M994I	ENSP00000313052:M994I	M	-	3	0	HYDIN	69619066	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	1.609000	0.36858	2.282000	0.76494	0.499000	0.49734	ATG		0.542	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
IFNA8	3445	hgsc.bcm.edu	37	9	21409495	21409496	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	AA	AA	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr9:21409495_21409496delAA	ENST00000380205.1	+	1	350_351	c.320_321delAA	c.(319-321)gaafs	p.E107fs		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	107					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to exogenous dsRNA (GO:0043330)|T cell activation involved in immune response (GO:0002286)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)	p.E107fs*6(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		CTTCTAGATGAATTCTACATCG	0.51																																																1	Deletion - Frameshift(1)	ovary(1)	9																																								21399496	SO:0001589	frameshift_variant	3445				CCDS6507.1	9p22	2010-08-24			ENSG00000120242	ENSG00000120242		"""Interferons"""	5429	protein-coding gene	gene with protein product	"""interferon alpha-B''"", ""interferon alpha type 201"""	147568				1385305	Standard	NM_002170		Approved	IFN-alphaB	uc003zpc.1	P32881	OTTHUMG00000019677	ENST00000380205.1:c.320_321delAA	9.37:g.21409495_21409496delAA	ENSP00000369553:p.Glu107fs		21399495	P01565|P09236|Q5VWV7|Q5VYQ3	Frame_Shift_Del	DEL	ENST00000380205.1	37	CCDS6507.1																																																																																				0.510	IFNA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051906.1	NM_002170	
ITPR1	3708	hgsc.bcm.edu	37	3	4853092	4853092	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr3:4853092G>C	ENST00000443694.2	+	53	7371	c.7371G>C	c.(7369-7371)aaG>aaC	p.K2457N	ITPR1_ENST00000302640.8_Missense_Mutation_p.K2457N|ITPR1_ENST00000357086.4_Missense_Mutation_p.K2424N|ITPR1_ENST00000463980.1_3'UTR|AC018816.3_ENST00000489771.1_5'Flank|ITPR1_ENST00000544951.1_Missense_Mutation_p.K435N|ITPR1_ENST00000423119.2_Missense_Mutation_p.K2424N|ITPR1_ENST00000354582.6_Missense_Mutation_p.K2457N|ITPR1_ENST00000456211.2_Missense_Mutation_p.K2409N			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2472					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)	p.K2409N(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	TTTTCTTCAAGGATGACTTTA	0.423																																																1	Substitution - Missense(1)	ovary(1)	3											141.0	141.0	141.0					3																	4853092		1946	4137	6083	4828092	SO:0001583	missense	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.7371G>C	3.37:g.4853092G>C	ENSP00000401671:p.Lys2457Asn		4828092	E7EPX7|E9PDE9|Q14660|Q99897	Missense_Mutation	SNP	ENST00000443694.2	37	CCDS54551.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.770490	0.69992	.	.	ENSG00000150995	ENST00000356617;ENST00000302640;ENST00000354582;ENST00000423119;ENST00000426160;ENST00000357086;ENST00000456211;ENST00000544951;ENST00000443694	D;D;D;D;D;D;D	0.98585	-5.01;-5.01;-5.01;-5.01;-5.01;-5.01;-5.01	5.62	-1.45	0.08828	Ion transport (1);	0.135595	0.64402	D	0.000003	D	0.98157	0.9391	M	0.74647	2.275	0.48452	D	0.999657	P;P;D	0.57571	0.786;0.931;0.98	P;P;P	0.62813	0.688;0.816;0.907	D	0.96810	0.9596	10	0.48119	T	0.1	.	12.4203	0.55516	0.6013:0.0:0.3987:0.0	.	435;2472;2424	B7ZMI3;Q14643;G5E9P1	.;ITPR1_HUMAN;.	N	2472;2457;2457;2424;918;2424;2409;435;2457	ENSP00000306253:K2457N;ENSP00000346595:K2457N;ENSP00000405934:K2424N;ENSP00000349597:K2424N;ENSP00000397885:K2409N;ENSP00000440564:K435N;ENSP00000401671:K2457N	ENSP00000306253:K2457N	K	+	3	2	ITPR1	4828092	1.000000	0.71417	0.994000	0.49952	0.993000	0.82548	1.135000	0.31454	-0.162000	0.10964	0.563000	0.77884	AAG		0.423	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000337982.3	NM_002222	
LAMA1	284217	hgsc.bcm.edu	37	18	6971901	6971901	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr18:6971901C>G	ENST00000389658.3	-	48	6947	c.6854G>C	c.(6853-6855)tGg>tCg	p.W2285S	RN7SL537P_ENST00000584392.1_RNA	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2285	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)	p.W2285S(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				AATATAGTTCCATAGGCCTAT	0.433																																																1	Substitution - Missense(1)	ovary(1)	18											137.0	116.0	123.0					18																	6971901		2203	4300	6503	6961901	SO:0001583	missense	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.6854G>C	18.37:g.6971901C>G	ENSP00000374309:p.Trp2285Ser		6961901		Missense_Mutation	SNP	ENST00000389658.3	37	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698001	0.68386	.	.	ENSG00000101680	ENST00000389658	T	0.62364	0.03	5.52	5.52	0.82312	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);	0.000000	0.85682	D	0.000000	T	0.80481	0.4631	M	0.76574	2.34	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.81714	-0.0807	10	0.87932	D	0	.	19.7972	0.96491	0.0:1.0:0.0:0.0	.	2285	P25391	LAMA1_HUMAN	S	2285	ENSP00000374309:W2285S	ENSP00000374309:W2285S	W	-	2	0	LAMA1	6961901	1.000000	0.71417	1.000000	0.80357	0.407000	0.30961	7.406000	0.80017	2.756000	0.94617	0.643000	0.83706	TGG		0.433	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559	
MUC16	94025	hgsc.bcm.edu	37	19	9086715	9086716	+	Frame_Shift_Ins	INS	-	-	ACTCATT			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr19:9086715_9086716insACTCATT	ENST00000397910.4	-	1	5302_5303	c.5099_5100insAATGAGT	c.(5098-5100)gttfs	p.-1700fs		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated						cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.S1701fs*8(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GGACAGAGGAAACTCTTCCTAA	0.48																																																1	Insertion - Frameshift(1)	ovary(1)	19																																								8947716	SO:0001589	frameshift_variant	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.5099_5100insAATGAGT	19.37:g.9086715_9086716insACTCATT	ENSP00000381008:p.Val1700fs		8947715	Q6ZQW5|Q96RK2	Frame_Shift_Ins	INS	ENST00000397910.4	37	CCDS54212.1																																																																																				0.480	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
SMG6	23293	hgsc.bcm.edu	37	17	2203200	2203200	+	Nonsense_Mutation	SNP	G	G	A			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr17:2203200G>A	ENST00000263073.6	-	2	897	c.847C>T	c.(847-849)Cag>Tag	p.Q283*	SMG6_ENST00000544865.1_Nonsense_Mutation_p.Q252*	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	283	Interaction with telomeric DNA.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)	p.Q283*(2)		NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTCCTATCCTGTCGGCGGCGG	0.572																																					Melanoma(59;28 1088 11621 25887 46638 50814)											2	Substitution - Nonsense(2)	ovary(2)	17											71.0	63.0	65.0					17																	2203200		2203	4300	6503	2149950	SO:0001587	stop_gained	23293			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.847C>T	17.37:g.2203200G>A	ENSP00000263073:p.Gln283*		2149950	B7Z874|O94837|Q86VH6|Q9UF60	Nonsense_Mutation	SNP	ENST00000263073.6	37	CCDS11016.1	.	.	.	.	.	.	.	.	.	.	G	41	8.992726	0.99029	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	.	.	.	5.35	5.35	0.76521	.	0.552442	0.18250	N	0.146998	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-6.836	19.0567	0.93069	0.0:0.0:1.0:0.0	.	.	.	.	X	283;252	.	ENSP00000263073:Q283X	Q	-	1	0	SMG6	2149950	0.984000	0.35163	0.984000	0.44739	0.929000	0.56500	2.028000	0.41088	2.490000	0.84030	0.655000	0.94253	CAG		0.572	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437826.3		
SLC5A10	125206	hgsc.bcm.edu	37	17	18916779	18916779	+	Missense_Mutation	SNP	G	G	A	rs147798286		TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr17:18916779G>A	ENST00000395645.3	+	10	1057	c.1039G>A	c.(1039-1041)Ggc>Agc	p.G347S	SLC5A10_ENST00000395642.1_Missense_Mutation_p.G280S|SLC5A10_ENST00000395647.2_Missense_Mutation_p.G363S|SLC5A10_ENST00000317977.6_Missense_Mutation_p.G280S|SLC5A10_ENST00000395643.2_Missense_Mutation_p.G320S|SLC5A10_ENST00000417251.2_Intron	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	347					sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)	p.G363S(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						GGCCGAGGTCGGCTGCTCCAA	0.632													G|||	1	0.000199681	0.0	0.0	5008	,	,		16723	0.0		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	17						G	SER/GLY,SER/GLY	1,4405	2.1+/-5.4	0,1,2202	56.0	50.0	52.0		1039,1087	4.0	1.0	17	dbSNP_134	52	0,8600		0,0,4300	yes	missense,missense	SLC5A10	NM_001042450.1,NM_152351.3	56,56	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	347/597,363/613	18916779	1,13005	2203	4300	6503	18857504	SO:0001583	missense	125206				CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.1039G>A	17.37:g.18916779G>A	ENSP00000379007:p.Gly347Ser		18857504	A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	Missense_Mutation	SNP	ENST00000395645.3	37	CCDS42275.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.785630	0.90282	2.27E-4	0.0	ENSG00000154025	ENST00000317977;ENST00000395647;ENST00000395642;ENST00000395645;ENST00000395643	D;D;D;D;D	0.88741	-2.42;-2.42;-2.42;-2.42;-2.42	4.04	4.04	0.47022	.	0.105548	0.64402	D	0.000004	D	0.91479	0.7310	M	0.70842	2.15	0.80722	D	1	D;D;D;D	0.64830	0.99;0.992;0.99;0.994	P;P;P;P	0.53313	0.602;0.723;0.713;0.713	D	0.92213	0.5778	10	0.51188	T	0.08	.	16.1683	0.81786	0.0:0.0:1.0:0.0	.	320;347;363;280	A0PJK1-2;A0PJK1;A0PJK1-4;A0PJK1-3	.;SC5AA_HUMAN;.;.	S	280;363;280;347;320	ENSP00000324346:G280S;ENSP00000379008:G363S;ENSP00000379004:G280S;ENSP00000379007:G347S;ENSP00000379005:G320S	ENSP00000324346:G280S	G	+	1	0	SLC5A10	18857504	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	9.566000	0.98157	1.978000	0.57642	0.313000	0.20887	GGC		0.632	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132129.2	NM_152351	
TMEM180	79847	hgsc.bcm.edu	37	10	104235491	104235491	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_IV	WXS	none			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr10:104235491T>A	ENST00000238936.4	+	10	1541	c.1304T>A	c.(1303-1305)tTc>tAc	p.F435Y	TMEM180_ENST00000366277.2_Missense_Mutation_p.F164Y	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	435						integral component of membrane (GO:0016021)		p.F435Y(1)		breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CATGACCTCTTCCAGCAGTCC	0.617																																																1	Substitution - Missense(1)	ovary(1)	10											130.0	114.0	119.0					10																	104235491		2203	4300	6503	104225481	SO:0001583	missense	79847			AK026182	CCDS7535.1	10q24.32	2011-02-09	2006-10-12	2006-10-12	ENSG00000138111	ENSG00000138111			26196	protein-coding gene	gene with protein product				C10orf77		12477932	Standard	XM_006717971		Approved	FLJ22529, bA18I14.8	uc001kvt.3	Q14CX5	OTTHUMG00000018961	ENST00000238936.4:c.1304T>A	10.37:g.104235491T>A	ENSP00000238936:p.Phe435Tyr		104225481	Q6NWM8|Q6NWM9|Q6PEZ7|Q9H679	Missense_Mutation	SNP	ENST00000238936.4	37	CCDS7535.1	.	.	.	.	.	.	.	.	.	.	t	24.4	4.526950	0.85706	.	.	ENSG00000138111	ENST00000366277;ENST00000238936;ENST00000369930	.	.	.	4.63	4.63	0.57726	.	0.000000	0.85682	D	0.000000	T	0.76779	0.4035	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.77913	-0.2410	9	0.45353	T	0.12	.	14.3348	0.66581	0.0:0.0:0.0:1.0	.	435	Q14CX5	TM180_HUMAN	Y	164;435;164	.	ENSP00000238936:F435Y	F	+	2	0	TMEM180	104225481	1.000000	0.71417	1.000000	0.80357	0.804000	0.45430	7.870000	0.87175	1.855000	0.53841	0.255000	0.18592	TTC		0.617	TMEM180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050075.2	NM_024789	
AMICA1	120425	hgsc.bcm.edu	37	11	118074284	118074284	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr11:118074284C>A	ENST00000356289.5	-	6	804	c.631G>T	c.(631-633)Gac>Tac	p.D211Y	AMICA1_ENST00000526620.1_Missense_Mutation_p.D172Y|AMICA1_ENST00000292067.7_Missense_Mutation_p.D201Y|AMICA1_ENST00000533261.1_Missense_Mutation_p.D200Y	NM_001098526.1	NP_001091996.1	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	211	Ig-like V-type 2.				blood coagulation (GO:0007596)|gamma-delta T cell activation (GO:0046629)|heterophilic cell-cell adhesion (GO:0007157)|leukocyte migration (GO:0050900)|monocyte extravasation (GO:0035696)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|regulation of immune response (GO:0050776)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	cell adhesion molecule binding (GO:0050839)|integrin binding (GO:0005178)|protein homodimerization activity (GO:0042803)	p.D201Y(1)		central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CGGAAAATGTCCCCCACCAGG	0.507																																																1	Substitution - Missense(1)	ovary(1)	11											164.0	158.0	160.0					11																	118074284		2200	4296	6496	117579494	SO:0001583	missense	120425			AY138965, AY358362	CCDS8391.1, CCDS41723.1, CCDS66240.1	11q23.3	2013-01-11				ENSG00000160593		"""Immunoglobulin superfamily / V-set domain containing"""	19084	protein-coding gene	gene with protein product		609770				12975309	Standard	NM_001098526		Approved	Gm638, AMICA	uc001psk.2	Q86YT9		ENST00000356289.5:c.631G>T	11.37:g.118074284C>A	ENSP00000348635:p.Asp211Tyr		117579494	B0YIV1|B0YIV2|Q496M1|Q5DTC6|Q7Z499|Q8N9I7|Q8NF70	Missense_Mutation	SNP	ENST00000356289.5	37	CCDS41723.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.457514	0.26161	.	.	ENSG00000160593	ENST00000356289;ENST00000292067;ENST00000533261;ENST00000526620;ENST00000537867	T;T;T;T	0.68331	-0.32;-0.32;-0.32;-0.32	4.58	1.07	0.20283	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.468437	0.18068	N	0.152724	T	0.79598	0.4473	M	0.87547	2.89	0.09310	N	1	D;D;D;D;D	0.89917	1.0;0.997;1.0;1.0;1.0	D;P;D;D;D	0.97110	0.997;0.875;1.0;1.0;0.999	T	0.66364	-0.5942	10	0.87932	D	0	-8.9134	5.4203	0.16396	0.0:0.5744:0.0:0.4256	.	211;172;211;200;201	B4DVI6;E9PKK2;Q86YT9;E9PR26;Q86YT9-2	.;.;JAML1_HUMAN;.;.	Y	211;201;200;172;172	ENSP00000348635:D211Y;ENSP00000292067:D201Y;ENSP00000436117:D200Y;ENSP00000431218:D172Y	ENSP00000292067:D201Y	D	-	1	0	AMICA1	117579494	0.036000	0.19791	0.002000	0.10522	0.026000	0.11368	0.444000	0.21661	0.457000	0.26962	0.491000	0.48974	GAC		0.507	AMICA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392105.2	NM_153206	
PCED1B	91523	hgsc.bcm.edu	37	12	47472366	47472366	+	5'Flank	SNP	C	C	T			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr12:47472366C>T	ENST00000546455.1	+	0	0				AMIGO2_ENST00000550413.1_Silent_p.L140L|AMIGO2_ENST00000321382.3_Silent_p.L140L|AMIGO2_ENST00000266581.4_Silent_p.L140L|AMIGO2_ENST00000429635.1_Silent_p.L140L			Q96HM7	PED1B_HUMAN	PC-esterase domain containing 1B								hydrolase activity (GO:0016787)	p.L140L(1)									CCAGAACCTTCAACTCTTGGA	0.433																																																1	Substitution - coding silent(1)	ovary(1)	12											126.0	126.0	126.0					12																	47472366		2203	4300	6503	45758633	SO:0001631	upstream_gene_variant	347902			BC016154	CCDS8752.1	12q13.11	2012-06-11	2012-06-11	2012-06-11	ENSG00000179715	ENSG00000179715			28255	protein-coding gene	gene with protein product			"""family with sequence similarity 113, member B"""	FAM113B		20056006	Standard	NM_138371		Approved	MGC16044	uc001rpq.3	Q96HM7	OTTHUMG00000169617		12.37:g.47472366C>T	Exception_encountered		45758633	Q96B20	Silent	SNP	ENST00000546455.1	37	CCDS8752.1																																																																																				0.433	PCED1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405079.1	NM_138371	
BOD1L1	259282	hgsc.bcm.edu	37	4	13612597	13612597	+	Silent	SNP	A	A	G			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr4:13612597A>G	ENST00000040738.5	-	6	1587	c.1452T>C	c.(1450-1452)tcT>tcC	p.S484S		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	484	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)	p.S484S(1)									GCTCATCATCAGAATCACTAT	0.348																																																1	Substitution - coding silent(1)	ovary(1)	4											219.0	198.0	205.0					4																	13612597		2203	4300	6503	13221695	SO:0001819	synonymous_variant	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.1452T>C	4.37:g.13612597A>G			13221695	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Silent	SNP	ENST00000040738.5	37	CCDS3411.2																																																																																				0.348	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207321.1	NM_148894	
TCAIM	285343	hgsc.bcm.edu	37	3	44409183	44409183	+	Silent	SNP	A	A	G			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr3:44409183A>G	ENST00000342649.4	+	5	982	c.555A>G	c.(553-555)agA>agG	p.R185R	TCAIM_ENST00000417237.1_Silent_p.R185R	NM_001282913.1|NM_173826.3	NP_001269842.1|NP_776187.2	Q8N3R3	TCAIM_HUMAN	T cell activation inhibitor, mitochondrial	185						mitochondrion (GO:0005739)		p.R185R(1)									AAGTCTCGAGAGTGGAAACAA	0.373																																																1	Substitution - coding silent(1)	ovary(1)	3											39.0	37.0	38.0					3																	44409183		2203	4300	6503	44384187	SO:0001819	synonymous_variant	285343				CCDS2712.1, CCDS43076.1	3p21.33-p21.32	2012-08-22	2012-08-22	2012-08-22	ENSG00000179152	ENSG00000179152			25241	protein-coding gene	gene with protein product	"""tolerance associated gene-1"""		"""chromosome 3 open reading frame 23"""	C3orf23		12477932	Standard	NM_001029840		Approved	DKFZp313N0621, TOAG-1	uc003cnd.4	Q8N3R3	OTTHUMG00000133049	ENST00000342649.4:c.555A>G	3.37:g.44409183A>G			44384187	A8K9P1|Q0P5T9|Q495R1|Q495R3|Q4G0M4|Q6GMU8	Silent	SNP	ENST00000342649.4	37	CCDS2712.1																																																																																				0.373	TCAIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256655.2	NM_173826	
CASC1	55259	hgsc.bcm.edu	37	12	25297569	25297569	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr12:25297569C>A	ENST00000320267.9	-	8	795	c.714G>T	c.(712-714)gaG>gaT	p.E238D	CASC1_ENST00000354189.5_Missense_Mutation_p.E302D|CASC1_ENST00000545133.1_Missense_Mutation_p.E179D|CASC1_ENST00000395990.2_Missense_Mutation_p.E198D|CASC1_ENST00000557684.1_5'UTR|CASC1_ENST00000537577.1_Missense_Mutation_p.E126D|CASC1_ENST00000395987.3_Missense_Mutation_p.E244D	NM_001082973.1	NP_001076442	Q6TDU7	CASC1_HUMAN	cancer susceptibility candidate 1	238								p.E244D(1)		breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(3)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Melanoma(3;0.0301)|Colorectal(261;0.11)		OV - Ovarian serous cystadenocarcinoma(3;7.42e-20)|Epithelial(3;7.58e-16)|all cancers(3;1.07e-13)			TCCTTGGAATCTCAAATCCAA	0.383																																																1	Substitution - Missense(1)	ovary(1)	12											126.0	125.0	125.0					12																	25297569		2203	4300	6503	25188836	SO:0001583	missense	55259			AK093102	CCDS31759.2, CCDS41762.1, CCDS41763.1, CCDS55810.1, CCDS55811.1	12p12.1	2012-04-17			ENSG00000118307	ENSG00000118307		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	29599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 54"""					14583591	Standard	NM_018272		Approved	LAS1, FLJ10921, PPP1R54	uc001rgk.3	Q6TDU7	OTTHUMG00000150195	ENST00000320267.9:c.714G>T	12.37:g.25297569C>A	ENSP00000313141:p.Glu238Asp		25188836	B4DNP2|F5H6T6|Q17RL2|Q4G171|Q5U5K5|Q9NV50	Missense_Mutation	SNP	ENST00000320267.9	37	CCDS41762.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.107613	0.37145	.	.	ENSG00000118307	ENST00000354189;ENST00000395987;ENST00000320267;ENST00000395990;ENST00000537577;ENST00000395992;ENST00000545133	T;T;T;T;T;T	0.32515	1.45;1.45;1.45;1.45;1.45;1.45	5.25	-1.92	0.07618	Casc1 domain (1);	0.527225	0.19474	N	0.113370	T	0.19604	0.0471	L	0.47716	1.5	0.35525	D	0.801779	B;B;B;B;B	0.31318	0.141;0.141;0.319;0.103;0.084	B;B;B;B;B	0.34652	0.067;0.067;0.187;0.067;0.04	T	0.13229	-1.0517	10	0.20046	T	0.44	-9.1848	3.0502	0.06167	0.3491:0.3068:0.0:0.3441	.	126;179;302;238;244	F5H555;F5H6T6;Q6TDU7-3;Q6TDU7;F8W8F9	.;.;.;CASC1_HUMAN;.	D	302;244;238;198;126;244;179	ENSP00000346126:E302D;ENSP00000379310:E244D;ENSP00000313141:E238D;ENSP00000379313:E198D;ENSP00000444715:E126D;ENSP00000437373:E179D	ENSP00000313141:E238D	E	-	3	2	CASC1	25188836	0.893000	0.30496	0.998000	0.56505	0.994000	0.84299	-0.326000	0.07965	0.015000	0.14971	-0.323000	0.08544	GAG		0.383	CASC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000316761.1	NM_018272	
CCDC158	339965	hgsc.bcm.edu	37	4	77283297	77283297	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr4:77283297C>T	ENST00000388914.3	-	12	2154	c.2002G>A	c.(2002-2004)Gaa>Aaa	p.E668K		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	668								p.E668K(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TTGTTTAATTCACTCCTACTT	0.408																																																1	Substitution - Missense(1)	ovary(1)	4											115.0	113.0	113.0					4																	77283297		1926	4136	6062	77502321	SO:0001583	missense	339965			BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.2002G>A	4.37:g.77283297C>T	ENSP00000373566:p.Glu668Lys		77502321	Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	ENST00000388914.3	37	CCDS43242.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.181426	0.78677	.	.	ENSG00000163749	ENST00000388914	T	0.33865	1.39	5.74	5.74	0.90152	.	0.242590	0.32769	N	0.005672	T	0.26702	0.0653	N	0.19112	0.55	0.80722	D	1	P	0.42692	0.787	B	0.41510	0.359	T	0.03077	-1.1075	10	0.10111	T	0.7	.	17.7097	0.88318	0.0:1.0:0.0:0.0	.	668	Q5M9N0	CD158_HUMAN	K	668	ENSP00000373566:E668K	ENSP00000373566:E668K	E	-	1	0	CCDC158	77502321	0.991000	0.36638	0.079000	0.20413	0.792000	0.44763	3.229000	0.51278	2.716000	0.92895	0.563000	0.77884	GAA		0.408	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362694.2	NM_001042784	
CD79A	973	hgsc.bcm.edu	37	19	42383136	42383136	+	Silent	SNP	C	C	T			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr19:42383136C>T	ENST00000221972.3	+	2	341	c.156C>T	c.(154-156)ttC>ttT	p.F52F	CD79A_ENST00000444740.2_Silent_p.F52F	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha	52	Ig-like C2-type.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)	B cell receptor complex (GO:0019815)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)	transmembrane signaling receptor activity (GO:0004888)	p.F52F(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						ACGCCCACTTCCAATGCCCGC	0.642			"""O, S"""		DLBCL																																		Dom	yes		19	19q13.2	973	"""CD79a molecule, immunoglobulin-associated alpha"""		L	1	Substitution - coding silent(1)	ovary(1)	19											87.0	70.0	76.0					19																	42383136		2203	4300	6503	47074976	SO:0001819	synonymous_variant	973			M80462	CCDS12589.1, CCDS46088.1	19q13.2	2014-09-17	2006-03-28					"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1698	protein-coding gene	gene with protein product		112205	"""CD79A antigen (immunoglobulin-associated alpha)"""	IGA		1538135	Standard	NM_001783		Approved	MB-1	uc002orv.3	P11912		ENST00000221972.3:c.156C>T	19.37:g.42383136C>T			47074976	A0N775|Q53FB8	Silent	SNP	ENST00000221972.3	37	CCDS12589.1																																																																																				0.642	CD79A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463058.1		
DENND5B	160518	hgsc.bcm.edu	37	12	31542301	31542301	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr12:31542301C>A	ENST00000389082.5	-	20	3862	c.3598G>T	c.(3598-3600)Ggg>Tgg	p.G1200W	DENND5B_ENST00000536562.1_Missense_Mutation_p.G1235W|DENND5B_ENST00000306833.6_Missense_Mutation_p.G1235W	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	1200	RUN 2. {ECO:0000255|PROSITE- ProRule:PRU00178}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)	p.G1200W(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCATCCTTCCCAATGTTCCTG	0.383																																																1	Substitution - Missense(1)	ovary(1)	12											103.0	95.0	97.0					12																	31542301		1868	4113	5981	31433568	SO:0001583	missense	160518			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.3598G>T	12.37:g.31542301C>A	ENSP00000373734:p.Gly1200Trp		31433568	B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	ENST00000389082.5	37	CCDS44857.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274828	0.80580	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562	T;T;T	0.13089	2.62;2.62;2.62	4.34	4.34	0.51931	RUN (2);	0.070231	0.56097	D	0.000025	T	0.41073	0.1143	M	0.80183	2.485	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.47497	-0.9113	10	0.87932	D	0	-28.6646	17.0421	0.86492	0.0:1.0:0.0:0.0	.	1200;1235	Q6ZUT9;G3V1S3	DEN5B_HUMAN;.	W	1200;1235;1235	ENSP00000373734:G1200W;ENSP00000306482:G1235W;ENSP00000444889:G1235W	ENSP00000306482:G1235W	G	-	1	0	DENND5B	31433568	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.391000	0.79828	2.239000	0.73571	0.585000	0.79938	GGG		0.383	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402040.1	NM_144973	
ENO3	2027	hgsc.bcm.edu	37	17	4860152	4860152	+	Silent	SNP	G	G	A			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr17:4860152G>A	ENST00000323997.6	+	11	1335	c.1203G>A	c.(1201-1203)tcG>tcA	p.S401S	ENO3_ENST00000519584.1_Silent_p.S358S|ENO3_ENST00000518175.1_Silent_p.S401S	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	401					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|response to drug (GO:0042493)|skeletal muscle tissue regeneration (GO:0043403)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)	p.S401S(2)		cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						CCTGCCGCTCGGAGCGTCTGG	0.592											OREG0024110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				2	Substitution - coding silent(2)	ovary(1)|endometrium(1)	17											145.0	158.0	154.0					17																	4860152		2203	4300	6503	4800876	SO:0001819	synonymous_variant	2027			X16504	CCDS11062.1, CCDS54070.1	17p13.2	2013-09-19	2004-11-22		ENSG00000108515	ENSG00000108515	4.2.1.11		3354	protein-coding gene	gene with protein product		131370	"""enolase 3, (beta, muscle)"""				Standard	NM_001976		Approved		uc002gab.4	P13929	OTTHUMG00000099394	ENST00000323997.6:c.1203G>A	17.37:g.4860152G>A		622	4800876	B4DUI6|B4DUM6|D3DTL2|E7ENK8|Q96AE2	Silent	SNP	ENST00000323997.6	37	CCDS11062.1																																																																																				0.592	ENO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216851.2		
FUK	197258	hgsc.bcm.edu	37	16	70497548	70497548	+	Silent	SNP	G	G	T			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr16:70497548G>T	ENST00000288078.6	+	3	337	c.105G>T	c.(103-105)cgG>cgT	p.R35R	FUK_ENST00000428974.2_Silent_p.R35R|FUK_ENST00000571514.1_Intron|FUK_ENST00000378912.2_Silent_p.R35R	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	35						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)	p.R35R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				GGCAGAAGCGGGAGCAGATCC	0.637																																																1	Substitution - coding silent(1)	ovary(1)	16											60.0	67.0	65.0					16																	70497548		2032	4180	6212	69055049	SO:0001819	synonymous_variant	197258				CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.105G>T	16.37:g.70497548G>T			69055049	Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Silent	SNP	ENST00000288078.6	37	CCDS10891.2																																																																																				0.637	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157291.2	NM_145059	
KIR3DL1	3811	hgsc.bcm.edu	37	19	55331210	55331210	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr19:55331210T>A	ENST00000391728.4	+	4	431	c.398T>A	c.(397-399)cTg>cAg	p.L133Q	KIR3DL1_ENST00000358178.4_Missense_Mutation_p.L38Q|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.L133Q|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.L133Q|KIR3DL1_ENST00000402254.2_Missense_Mutation_p.L133Q|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.L133Q	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	133					immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.L133Q(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CCAGGTCCCCTGGTGAAATCA	0.488																																																1	Substitution - Missense(1)	ovary(1)	19											36.0	35.0	35.0					19																	55331210		2171	4108	6279	60023022	SO:0001583	missense	3811			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.398T>A	19.37:g.55331210T>A	ENSP00000375608:p.Leu133Gln		60023022	O43473|Q14946|Q16541	Missense_Mutation	SNP	ENST00000391728.4	37	CCDS42621.1	.	.	.	.	.	.	.	.	.	.	-	11.15	1.554026	0.27739	.	.	ENSG00000167633	ENST00000402254;ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T;T	0.03212	4.01;4.01;4.01;4.01;4.01;4.01	1.33	1.33	0.21861	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	2.036590	0.03406	U	0.204071	T	0.23492	0.0568	M	0.93594	3.435	0.09310	N	1	D;D;D;D	0.71674	0.995;0.995;0.992;0.998	P;D;P;D	0.69479	0.902;0.964;0.885;0.956	T	0.03443	-1.1036	10	0.87932	D	0	.	4.8237	0.13405	0.0:0.0:0.0:1.0	.	133;38;133;133	Q15702;Q14946;F6QF33;P43629	.;.;.;KI3L1_HUMAN	Q	133;133;133;111;133;133;38	ENSP00000384528:L133Q;ENSP00000443350:L133Q;ENSP00000442355:L133Q;ENSP00000375608:L133Q;ENSP00000326868:L133Q;ENSP00000350901:L38Q	ENSP00000326868:L133Q	L	+	2	0	KIR3DL1	60023022	0.000000	0.05858	0.002000	0.10522	0.035000	0.12851	0.254000	0.18314	0.874000	0.35823	0.155000	0.16302	CTG		0.488	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000141238.1	NM_013289	
LACTB2	51110	hgsc.bcm.edu	37	8	71553242	71553242	+	Silent	SNP	T	T	C			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr8:71553242T>C	ENST00000276590.4	-	5	672	c.636A>G	c.(634-636)caA>caG	p.Q212Q	LACTB2_ENST00000522447.1_Silent_p.Q212Q|LACTB2_ENST00000517601.1_Intron|RP11-382J12.1_ENST00000518553.1_Intron|RP11-382J12.1_ENST00000499227.2_Intron	NM_016027.2	NP_057111.1	Q53H82	LACB2_HUMAN	lactamase, beta 2	212						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)	p.Q212Q(1)		endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			GAGAAATGTATTGTTGAATTT	0.284																																																1	Substitution - coding silent(1)	ovary(1)	8											40.0	42.0	41.0					8																	71553242		2200	4286	6486	71715796	SO:0001819	synonymous_variant	51110			AF151841	CCDS6208.1	8q13.3	2005-10-14			ENSG00000147592	ENSG00000147592			18512	protein-coding gene	gene with protein product							Standard	NM_016027		Approved	CGI-83	uc003xyp.3	Q53H82	OTTHUMG00000164430	ENST00000276590.4:c.636A>G	8.37:g.71553242T>C			71715796	A8K2D6|Q9Y392	Silent	SNP	ENST00000276590.4	37	CCDS6208.1																																																																																				0.284	LACTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378748.1	NM_016027	
MCCC1	56922	hgsc.bcm.edu	37	3	182755055	182755055	+	Silent	SNP	G	G	A			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr3:182755055G>A	ENST00000265594.4	-	13	1691	c.1545C>T	c.(1543-1545)ctC>ctT	p.L515L	MCCC1_ENST00000492597.1_Silent_p.L406L|MCCC1_ENST00000489909.1_5'UTR|MCCC1_ENST00000539926.1_Silent_p.L380L	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	515					biotin metabolic process (GO:0006768)|branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|leucine catabolic process (GO:0006552)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|metal ion binding (GO:0046872)|methylcrotonoyl-CoA carboxylase activity (GO:0004485)	p.L515L(1)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CCTTGAGGATGAGACCCAGGG	0.488																																																1	Substitution - coding silent(1)	ovary(1)	3											119.0	103.0	109.0					3																	182755055		2203	4300	6503	184237749	SO:0001819	synonymous_variant	56922			AF310972	CCDS3241.1	3q27.1	2010-04-30	2010-04-30		ENSG00000078070	ENSG00000078070	6.4.1.4		6936	protein-coding gene	gene with protein product		609010	"""methylcrotonoyl-Coenzyme A carboxylase 1 (alpha)"""			11170888	Standard	XR_241502		Approved	MCCA	uc003fle.3	Q96RQ3	OTTHUMG00000158355	ENST00000265594.4:c.1545C>T	3.37:g.182755055G>A			184237749	Q59ES4|Q9H959|Q9NS97	Silent	SNP	ENST00000265594.4	37	CCDS3241.1	.	.	.	.	.	.	.	.	.	.	G	8.594	0.885355	0.17540	.	.	ENSG00000078070	ENST00000448585	.	.	.	5.93	4.13	0.48395	.	.	.	.	.	T	0.61362	0.2341	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57365	-0.7824	4	.	.	.	.	10.168	0.42893	0.2054:0.0:0.7946:0.0	.	.	.	.	L	468	.	.	S	-	2	0	MCCC1	184237749	1.000000	0.71417	0.999000	0.59377	0.902000	0.53008	2.140000	0.42159	0.825000	0.34637	0.561000	0.74099	TCA		0.488	MCCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350775.1	NM_020166	
PASD1	139135	hgsc.bcm.edu	37	X	150842507	150842507	+	Missense_Mutation	SNP	C	C	T			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chrX:150842507C>T	ENST00000370357.4	+	15	2269	c.2024C>T	c.(2023-2025)aCt>aTt	p.T675I		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	675						nucleus (GO:0005634)	signal transducer activity (GO:0004871)	p.T675I(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCCATAACTTCAGACTCA	0.502																																																1	Substitution - Missense(1)	ovary(1)	X											127.0	113.0	118.0					X																	150842507		2203	4300	6503	150593163	SO:0001583	missense	139135			AY270020	CCDS35431.1	Xq28	2009-08-06			ENSG00000166049	ENSG00000166049			20686	protein-coding gene	gene with protein product	"""cancer/testis antigen 63"""					15122589, 15162151	Standard	NM_173493		Approved	CT63	uc004fev.4	Q8IV76	OTTHUMG00000024169	ENST00000370357.4:c.2024C>T	X.37:g.150842507C>T	ENSP00000359382:p.Thr675Ile		150593163	Q3MNE0|Q69HD7|Q8N7X9	Missense_Mutation	SNP	ENST00000370357.4	37	CCDS35431.1	.	.	.	.	.	.	.	.	.	.	C	12.25	1.882086	0.33255	.	.	ENSG00000166049	ENST00000370357	T	0.33216	1.42	3.37	-5.77	0.02369	.	.	.	.	.	T	0.12518	0.0304	N	0.14661	0.345	0.09310	N	1	B	0.34241	0.444	B	0.29077	0.098	T	0.14420	-1.0473	9	0.72032	D	0.01	-0.0815	3.3403	0.07116	0.2213:0.4825:0.1737:0.1225	.	675	Q8IV76	PASD1_HUMAN	I	675	ENSP00000359382:T675I	ENSP00000359382:T675I	T	+	2	0	PASD1	150593163	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.225000	0.02956	-1.865000	0.01147	-1.548000	0.00902	ACT		0.502	PASD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060879.2	NM_173493	
PEG3	5178	hgsc.bcm.edu	37	19	57328940	57328940	+	Silent	SNP	T	T	C			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr19:57328940T>C	ENST00000326441.9	-	10	1233	c.870A>G	c.(868-870)aaA>aaG	p.K290K	ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Silent_p.K166K|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Silent_p.K290K|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Silent_p.K164K	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	290					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)	p.K290K(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CAGGCATAGTTTTTAGACCTG	0.453																																																1	Substitution - coding silent(1)	ovary(1)	19											43.0	49.0	47.0					19																	57328940		2200	4298	6498	62020752	SO:0001819	synonymous_variant	5178			AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.870A>G	19.37:g.57328940T>C			62020752	A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Silent	SNP	ENST00000326441.9	37	CCDS12948.1																																																																																				0.453	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2		
SUPT6H	6830	hgsc.bcm.edu	37	17	27030880	27030880	+	IGR	SNP	A	A	C			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr17:27030880A>C	ENST00000314616.6	+	0	6518				PROCA1_ENST00000301039.2_Missense_Mutation_p.L236W|PROCA1_ENST00000579650.1_5'Flank|PROCA1_ENST00000581289.1_3'UTR|PROCA1_ENST00000439862.3_Missense_Mutation_p.L238W	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)						chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L236W(1)		NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					CTTCTTAGTCAACTGGCCTTT	0.478																																																1	Substitution - Missense(1)	ovary(1)	17											99.0	104.0	102.0					17																	27030880		2203	4300	6503	24055007	SO:0001628	intergenic_variant	147011			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85			17.37:g.27030880A>C			24055007	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	ENST00000314616.6	37	CCDS32596.1	.	.	.	.	.	.	.	.	.	.	A	15.71	2.913275	0.52439	.	.	ENSG00000167525	ENST00000301039;ENST00000439862;ENST00000415329	T;T	0.05025	3.51;3.51	4.74	4.74	0.60224	.	0.402757	0.20110	N	0.099021	T	0.14227	0.0344	L	0.34521	1.04	0.09310	N	0.99999	D;D;D	0.76494	0.996;0.999;0.999	P;D;D	0.71414	0.908;0.973;0.973	T	0.03433	-1.1037	10	0.87932	D	0	-2.3458	10.8053	0.46514	1.0:0.0:0.0:0.0	.	264;238;236	Q8NCQ7;G5E9R8;Q8NCQ7-2	PRCA1_HUMAN;.;.	W	236;238;264	ENSP00000301039:L236W;ENSP00000411400:L238W	ENSP00000301039:L236W	L	-	2	0	PROCA1	24055007	0.287000	0.24315	0.378000	0.26068	0.745000	0.42441	4.909000	0.63314	2.101000	0.63845	0.533000	0.62120	TTG		0.478	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446422.2	NM_003170	
RRM2B	50484	hgsc.bcm.edu	37	8	103244508	103244508	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr8:103244508T>C	ENST00000251810.3	-	2	316	c.73A>G	c.(73-75)Agt>Ggt	p.S25G	RRM2B_ENST00000519317.1_Intron|RRM2B_ENST00000395912.2_Intron|RRM2B_ENST00000519962.1_Intron	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	25					deoxyribonucleoside diphosphate metabolic process (GO:0009186)|deoxyribonucleoside triphosphate metabolic process (GO:0009200)|deoxyribonucleotide biosynthetic process (GO:0009263)|DNA repair (GO:0006281)|kidney development (GO:0001822)|mitochondrial DNA replication (GO:0006264)|negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)|nucleobase-containing small molecule interconversion (GO:0015949)|nucleobase-containing small molecule metabolic process (GO:0055086)|renal system process (GO:0003014)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|ribonucleoside-diphosphate reductase activity, thioredoxin disulfide as acceptor (GO:0004748)	p.S25G(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000728)		Cladribine(DB00242)	TTTATTTCACTTTCGTTGGTG	0.343								Modulation of nucleotide pools																																								1	Substitution - Missense(1)	ovary(1)	8											99.0	101.0	100.0					8																	103244508		2203	4300	6503	103313684	SO:0001583	missense	50484			AB036532	CCDS34932.1, CCDS55267.1	8q23.1	2014-09-17			ENSG00000048392	ENSG00000048392			17296	protein-coding gene	gene with protein product		604712				10716435, 10980602, 17486094	Standard	NM_015713		Approved	p53R2	uc022azl.1	Q7LG56	OTTHUMG00000164776	ENST00000251810.3:c.73A>G	8.37:g.103244508T>C	ENSP00000251810:p.Ser25Gly		103313684	B4E2N4|Q17R22|Q75PQ6|Q75PQ7|Q75PY8|Q75PY9|Q86YE3|Q9NPD6|Q9NTD8|Q9NUW3	Missense_Mutation	SNP	ENST00000251810.3	37	CCDS34932.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.13|10.13	1.264741|1.264741	0.23136|0.23136	.|.	.|.	ENSG00000048392|ENSG00000048392	ENST00000522368|ENST00000251810;ENST00000522394	.|D;D	.|0.97480	.|-4.4;-1.81	5.61|5.61	3.15|3.15	0.36227|0.36227	.|Ferritin/ribonucleotide reductase-like (1);Ribonucleotide reductase-related (1);	.|0.663319	.|0.14900	.|N	.|0.291885	D|D	0.90143|0.90143	0.6920|0.6920	N|N	0.08118|0.08118	0|0	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.80377|0.80377	-0.1408|-0.1408	5|10	.|0.23302	.|T	.|0.38	.|.	7.2757|7.2757	0.26283|0.26283	0.0:0.0791:0.1447:0.7762|0.0:0.0791:0.1447:0.7762	.|.	.|25	.|Q7LG56	.|RIR2B_HUMAN	R|G	81|25	.|ENSP00000251810:S25G;ENSP00000429578:S25G	.|ENSP00000251810:S25G	K|S	-|-	2|1	0|0	RRM2B|RRM2B	103313684|103313684	1.000000|1.000000	0.71417|0.71417	0.001000|0.001000	0.08648|0.08648	0.049000|0.049000	0.14656|0.14656	2.748000|2.748000	0.47483|0.47483	0.370000|0.370000	0.24538|0.24538	0.528000|0.528000	0.53228|0.53228	AAG|AGT		0.343	RRM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380191.3		
RUSC2	9853	hgsc.bcm.edu	37	9	35556372	35556372	+	Missense_Mutation	SNP	G	G	T			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr9:35556372G>T	ENST00000455600.1	+	5	3479	c.2910G>T	c.(2908-2910)aaG>aaT	p.K970N		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	970						cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)	Rab GTPase binding (GO:0017137)	p.K970N(1)		NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			TGACGGAGAAGCCTCCAGCTG	0.527																																																1	Substitution - Missense(1)	ovary(1)	9											90.0	87.0	88.0					9																	35556372		2203	4300	6503	35546372	SO:0001583	missense	9853			AB002373	CCDS35008.1	9p13.2	2003-12-02			ENSG00000198853	ENSG00000198853			23625	protein-coding gene	gene with protein product		611053				9205841	Standard	NM_001135999		Approved	KIAA0375	uc003zww.3	Q8N2Y8	OTTHUMG00000019861	ENST00000455600.1:c.2910G>T	9.37:g.35556372G>T	ENSP00000393922:p.Lys970Asn		35546372	A2RU62|A7E2A9|O15080|Q5W134|Q641Q6|Q6P1W7	Missense_Mutation	SNP	ENST00000455600.1	37	CCDS35008.1	.	.	.	.	.	.	.	.	.	.	G	16.66	3.185278	0.57909	.	.	ENSG00000198853	ENST00000361226;ENST00000455600	T;T	0.28454	1.61;1.61	5.4	2.43	0.29744	.	0.110414	0.56097	D	0.000022	T	0.34048	0.0884	L	0.50333	1.59	0.40809	D	0.9834	P	0.52842	0.956	P	0.52554	0.702	T	0.10314	-1.0635	10	0.59425	D	0.04	-18.8091	5.9151	0.19050	0.4484:0.0:0.5516:0.0	.	970	Q8N2Y8	RUSC2_HUMAN	N	970	ENSP00000355177:K970N;ENSP00000393922:K970N	ENSP00000355177:K970N	K	+	3	2	RUSC2	35546372	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.697000	0.25556	0.569000	0.29329	0.561000	0.74099	AAG		0.527	RUSC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052309.1	XM_048462	
SERTAD4	56256	hgsc.bcm.edu	37	1	210412850	210412850	+	Missense_Mutation	SNP	G	G	A	rs148780972		TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr1:210412850G>A	ENST00000367012.3	+	3	418	c.188G>A	c.(187-189)aGg>aAg	p.R63K	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	63						nucleus (GO:0005634)		p.R63K(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		TCACATTACAGGGGAATTTCA	0.398																																																1	Substitution - Missense(1)	ovary(1)	1											84.0	87.0	86.0					1																	210412850		2203	4300	6503	208479473	SO:0001583	missense	56256			BC012083	CCDS1494.1	1q32.1-q41	2008-02-05			ENSG00000082497	ENSG00000082497			25236	protein-coding gene	gene with protein product						12477932	Standard	NM_019605		Approved	DJ667H12.2	uc001hhy.3	Q9NUC0	OTTHUMG00000036391	ENST00000367012.3:c.188G>A	1.37:g.210412850G>A	ENSP00000355979:p.Arg63Lys		208479473	B2RD32	Missense_Mutation	SNP	ENST00000367012.3	37	CCDS1494.1	.	.	.	.	.	.	.	.	.	.	g	19.37	3.813861	0.70912	.	.	ENSG00000082497	ENST00000367012	.	.	.	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.69369	0.3103	L	0.34521	1.04	0.35501	D	0.799816	D	0.58970	0.984	D	0.68192	0.956	T	0.73675	-0.3908	9	0.72032	D	0.01	-9.1065	20.8645	0.99794	0.0:0.0:1.0:0.0	.	63	Q9NUC0	SRTD4_HUMAN	K	63	.	ENSP00000355979:R63K	R	+	2	0	SERTAD4	208479473	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.475000	0.81041	2.937000	0.99478	0.651000	0.88453	AGG		0.398	SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088577.1	NM_019605	
SESN1	27244	hgsc.bcm.edu	37	6	109323516	109323516	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr6:109323516C>G	ENST00000356644.7	-	2	227	c.133G>C	c.(133-135)Gga>Cga	p.G45R	SESN1_ENST00000436639.2_Missense_Mutation_p.G104R|SESN1_ENST00000302071.2_5'UTR	NM_001199933.1	NP_001186862.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	45					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of cell proliferation (GO:0008285)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)	nucleus (GO:0005634)		p.G104R(1)		cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		GGTCCCTGTCCTAGTGGTCGA	0.423																																																1	Substitution - Missense(1)	ovary(1)	6											158.0	131.0	140.0					6																	109323516		2203	4300	6503	109430209	SO:0001583	missense	27244			AF033120	CCDS5070.1, CCDS56444.1, CCDS56445.1	6q21	2008-10-23			ENSG00000080546	ENSG00000080546			21595	protein-coding gene	gene with protein product		606103				9926927, 7938006	Standard	NM_014454		Approved	SEST1, PA26	uc003psu.3	Q9Y6P5	OTTHUMG00000015338	ENST00000356644.7:c.133G>C	6.37:g.109323516C>G	ENSP00000349061:p.Gly45Arg		109430209	Q2M2B7|Q5T316|Q9NV00|Q9UPD5|Q9Y6P6	Missense_Mutation	SNP	ENST00000356644.7	37	CCDS56445.1	.	.	.	.	.	.	.	.	.	.	C	14.78	2.637664	0.47049	.	.	ENSG00000080546	ENST00000436639;ENST00000356644	T;T	0.17054	2.3;2.31	5.58	4.71	0.59529	.	0.047911	0.85682	D	0.000000	T	0.23249	0.0562	L	0.57536	1.79	0.80722	D	1	B;D	0.89917	0.432;1.0	P;D	0.91635	0.513;0.999	T	0.05007	-1.0912	10	0.13853	T	0.58	-18.274	15.9296	0.79648	0.1361:0.8639:0.0:0.0	.	104;45	Q9Y6P5-2;Q9Y6P5	.;SESN1_HUMAN	R	104;45	ENSP00000393762:G104R;ENSP00000349061:G45R	ENSP00000349061:G45R	G	-	1	0	SESN1	109430209	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	7.398000	0.79919	1.345000	0.45676	-0.169000	0.13324	GGA		0.423	SESN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041738.4	NM_014454	
SIAH1	6477	hgsc.bcm.edu	37	16	48396301	48396301	+	Silent	SNP	G	G	C			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr16:48396301G>C	ENST00000380006.2	-	1	1492	c.39C>G	c.(37-39)acC>acG	p.T13T	SIAH1_ENST00000394725.2_Silent_p.T13T|SIAH1_ENST00000356721.3_Silent_p.T44T|SIAH1_ENST00000573005.1_5'Flank			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	13					anatomical structure morphogenesis (GO:0009653)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cell cycle (GO:0007049)|nervous system development (GO:0007399)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein catabolic process (GO:0030163)|protein destabilization (GO:0031648)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|proteolysis (GO:0006508)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	beta-catenin destruction complex (GO:0030877)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|protein C-terminus binding (GO:0008022)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.T13T(1)		endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				GACACTTCGAGGTACCGGTAG	0.448																																																1	Substitution - coding silent(1)	ovary(1)	16											80.0	74.0	76.0					16																	48396301		2200	4300	6500	46953802	SO:0001819	synonymous_variant	6477			U76247	CCDS10735.1, CCDS32444.1	16q12.1	2013-06-03	2012-02-23		ENSG00000196470	ENSG00000196470			10857	protein-coding gene	gene with protein product		602212	"""seven in absentia homolog 1 (Drosophila)"""			9403064, 9334332	Standard	NM_001006610		Approved	hSIAH1	uc002efo.1	Q8IUQ4	OTTHUMG00000175417	ENST00000380006.2:c.39C>G	16.37:g.48396301G>C			46953802	A0FKF3|O43269|Q49A58|Q92880	Silent	SNP	ENST00000380006.2	37	CCDS10735.1																																																																																				0.448	SIAH1-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256842.12		
SLC37A3	84255	hgsc.bcm.edu	37	7	140058560	140058560	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr7:140058560T>A	ENST00000326232.9	-	6	604	c.401A>T	c.(400-402)gAa>gTa	p.E134V	SLC37A3_ENST00000340308.3_Missense_Mutation_p.E134V|SLC37A3_ENST00000447932.2_Missense_Mutation_p.E134V|SLC37A3_ENST00000461089.1_5'UTR|SLC37A3_ENST00000429996.2_Intron	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	134					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)	p.E134V(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					ACGCAGCCATTCTGTGAGCGC	0.512																																					Esophageal Squamous(133;211 1716 4665 11387 37873)											1	Substitution - Missense(1)	ovary(1)	7											158.0	150.0	152.0					7																	140058560		2203	4300	6503	139705029	SO:0001583	missense	84255			AK074823	CCDS5858.1, CCDS5859.1, CCDS75669.1	7q34	2013-07-17	2013-07-17		ENSG00000157800	ENSG00000157800		"""Solute carriers"""	20651	protein-coding gene	gene with protein product							Standard	NM_001287498		Approved	DKFZp761N0624	uc003vvo.3	Q8NCC5	OTTHUMG00000157343	ENST00000326232.9:c.401A>T	7.37:g.140058560T>A	ENSP00000321498:p.Glu134Val		139705029	Q6PIU7|Q86SS4|Q9BQG7	Missense_Mutation	SNP	ENST00000326232.9	37	CCDS5859.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	27.6|27.6	4.844927|4.844927	0.91197|0.91197	.|.	.|.	ENSG00000157800|ENSG00000157800	ENST00000340308;ENST00000447932;ENST00000326232;ENST00000539816|ENST00000485861	T;T;T|.	0.57752|.	0.38;0.38;0.38|.	5.58|5.58	5.58|5.58	0.84498|0.84498	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);|.	0.107964|.	0.64402|.	D|.	0.000008|.	T|T	0.71651|0.71651	0.3365|0.3365	M|M	0.62016|0.62016	1.91|1.91	0.80722|0.80722	D|D	1|1	B;B;P;P;B|.	0.41978|.	0.256;0.34;0.619;0.767;0.242|.	B;B;B;P;B|.	0.47915|.	0.349;0.237;0.406;0.561;0.224|.	T|T	0.70769|0.70769	-0.4782|-0.4782	10|5	0.45353|.	T|.	0.12|.	-17.4281|-17.4281	15.759|15.759	0.78063|0.78063	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	106;134;134;134;134|.	B4DKF5;F5H743;Q8NCC5-2;Q8NCC5-3;Q8NCC5|.	.;.;.;.;SPX3_HUMAN|.	V|Y	134|59	ENSP00000343358:E134V;ENSP00000397481:E134V;ENSP00000321498:E134V|.	ENSP00000321498:E134V|.	E|N	-|-	2|1	0|0	SLC37A3|SLC37A3	139705029|139705029	1.000000|1.000000	0.71417|0.71417	0.972000|0.972000	0.41901|0.41901	0.957000|0.957000	0.61999|0.61999	7.897000|7.897000	0.87356|0.87356	2.121000|2.121000	0.65114|0.65114	0.533000|0.533000	0.62120|0.62120	GAA|AAT		0.512	SLC37A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348492.1	NM_032295	
SMC1A	8243	hgsc.bcm.edu	37	X	53436360	53436360	+	Silent	SNP	G	G	C			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chrX:53436360G>C	ENST00000322213.4	-	8	1456	c.1329C>G	c.(1327-1329)acC>acG	p.T443T	SMC1A_ENST00000375340.6_Silent_p.T209T	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	443					DNA repair (GO:0006281)|gene expression (GO:0010467)|meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic sister chromatid cohesion (GO:0007064)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle organization (GO:0007052)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of DNA endoreduplication (GO:0032876)|response to radiation (GO:0009314)|RNA splicing (GO:0008380)|signal transduction in response to DNA damage (GO:0042770)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin core heterodimer (GO:0008280)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|meiotic cohesin complex (GO:0030893)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)	p.T443T(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						ACTTGCTAGTGGTGATGTATT	0.493																																																1	Substitution - coding silent(1)	ovary(1)	X											248.0	177.0	201.0					X																	53436360		2203	4300	6503	53453085	SO:0001819	synonymous_variant	8243			S78271	CCDS14352.1, CCDS75985.1	Xp11.22-p11.21	2014-09-17	2006-07-06	2006-07-06	ENSG00000072501	ENSG00000072501		"""Structural maintenance of chromosomes proteins"""	11111	protein-coding gene	gene with protein product		300040	"""SMC1 (structural maintenance of chromosomes 1, yeast)-like 1"", ""SMC1 structural maintenance of chromosomes 1-like 1 (yeast)"""	SMC1L1		7757074	Standard	NM_006306		Approved	DXS423E, KIAA0178, SB1.8, Smcb	uc004dsg.3	Q14683	OTTHUMG00000021614	ENST00000322213.4:c.1329C>G	X.37:g.53436360G>C			53453085	O14995|Q16351|Q2M228	Silent	SNP	ENST00000322213.4	37	CCDS14352.1																																																																																				0.493	SMC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056756.2	NM_006306	
SRPRB	58477	hgsc.bcm.edu	37	3	133530019	133530019	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr3:133530019T>C	ENST00000466490.2	+	5	671	c.386T>C	c.(385-387)tTa>tCa	p.L129S		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	129					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|small GTPase mediated signal transduction (GO:0007264)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	GTP binding (GO:0005525)	p.L129S(1)		breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						CTTCAGTTCTTAGAGCGGTTT	0.453																																																1	Substitution - Missense(1)	ovary(1)	3											144.0	136.0	139.0					3																	133530019		2203	4300	6503	135012709	SO:0001583	missense	58477			AK075531	CCDS3081.1	3q22.1	2004-01-29			ENSG00000144867	ENSG00000144867			24085	protein-coding gene	gene with protein product						7844142, 10859309	Standard	NM_021203		Approved	APMCF1	uc003epx.2	Q9Y5M8	OTTHUMG00000159753	ENST00000466490.2:c.386T>C	3.37:g.133530019T>C	ENSP00000418401:p.Leu129Ser		135012709	Q6P595|Q8N2D8	Missense_Mutation	SNP	ENST00000466490.2	37	CCDS3081.1	.	.	.	.	.	.	.	.	.	.	T	25.6	4.652940	0.88056	.	.	ENSG00000144867	ENST00000466490	T	0.18016	2.24	5.44	5.44	0.79542	.	0.536673	0.17293	N	0.179571	T	0.45155	0.1328	M	0.76838	2.35	0.54753	D	0.999985	D	0.89917	1.0	D	0.91635	0.999	T	0.42865	-0.9426	10	0.72032	D	0.01	-7.3023	15.5068	0.75748	0.0:0.0:0.0:1.0	.	129	Q9Y5M8	SRPRB_HUMAN	S	129	ENSP00000418401:L129S	ENSP00000418401:L129S	L	+	2	0	SRPRB	135012709	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.486000	0.81215	2.076000	0.62316	0.454000	0.30748	TTA		0.453	SRPRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357170.2		
STX3	6809	hgsc.bcm.edu	37	11	59554600	59554600	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr11:59554600C>A	ENST00000337979.4	+	3	752	c.205C>A	c.(205-207)Cca>Aca	p.P69T	STX3_ENST00000529177.1_Missense_Mutation_p.P69T|STX3_ENST00000300150.7_Missense_Mutation_p.P38T|STX3_ENST00000437946.2_Intron|STX3_ENST00000535361.1_Missense_Mutation_p.P69T	NM_001178040.1|NM_004177.4	NP_001171511.1|NP_004168.1	Q13277	STX3_HUMAN	syntaxin 3	69					exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|long-term synaptic potentiation (GO:0060291)|membrane fusion (GO:0061025)|neuron projection development (GO:0031175)|neurotransmitter transport (GO:0006836)	apical plasma membrane (GO:0016324)|azurophil granule (GO:0042582)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|SNARE complex (GO:0031201)|specific granule (GO:0042581)|vacuole (GO:0005773)	arachidonic acid binding (GO:0050544)	p.P69T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						TGCACCGATTCCAGAGCCAAG	0.448																																																1	Substitution - Missense(1)	ovary(1)	11											131.0	117.0	121.0					11																	59554600		2201	4295	6496	59311176	SO:0001583	missense	6809			AJ002076	CCDS7975.1, CCDS53637.1	11q12.1	2008-02-05	2006-04-25	2006-04-25	ENSG00000166900	ENSG00000166900			11438	protein-coding gene	gene with protein product		600876	"""syntaxin 3A"""	STX3A		16598260, 16339081	Standard	NM_004177		Approved		uc001nog.3	Q13277	OTTHUMG00000167353	ENST00000337979.4:c.205C>A	11.37:g.59554600C>A	ENSP00000338562:p.Pro69Thr		59311176	B4DME0|O43750|O43751|Q15360	Missense_Mutation	SNP	ENST00000337979.4	37	CCDS7975.1	.	.	.	.	.	.	.	.	.	.	C	15.37	2.812716	0.50527	.	.	ENSG00000166900	ENST00000300150;ENST00000337979;ENST00000535361;ENST00000529177;ENST00000528805	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	5.01	5.01	0.66863	t-SNARE (1);Syntaxin, N-terminal (2);	0.057021	0.64402	D	0.000001	T	0.21718	0.0523	N	0.17723	0.515	0.80722	D	1	P;P	0.37663	0.604;0.604	B;P	0.45660	0.342;0.489	T	0.05146	-1.0903	10	0.30854	T	0.27	-18.1355	16.9086	0.86134	0.0:1.0:0.0:0.0	.	69;69	B4DME0;Q13277	.;STX3_HUMAN	T	38;69;69;69;21	ENSP00000300150:P38T;ENSP00000338562:P69T;ENSP00000441649:P69T;ENSP00000433248:P69T;ENSP00000431386:P21T	ENSP00000300150:P38T	P	+	1	0	STX3	59311176	0.999000	0.42202	0.968000	0.41197	0.986000	0.74619	4.048000	0.57390	2.312000	0.78011	0.650000	0.86243	CCA		0.448	STX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394264.1	NM_004177	
TTN	7273	hgsc.bcm.edu	37	2	179399720	179399720	+	Silent	SNP	G	G	A			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr2:179399720G>A	ENST00000591111.1	-	308	96923	c.96699C>T	c.(96697-96699)aaC>aaT	p.N32233N	TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN_ENST00000460472.2_Silent_p.N24809N|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.N31306N|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Silent_p.N25001N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Silent_p.N33874N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.N24934N|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585487.1_RNA			Q8WZ42	TITIN_HUMAN	titin	32233	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.N31304N(1)|p.N24809N(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTGTAAGATGTTTCTATGCC	0.348																																																2	Substitution - coding silent(2)	ovary(2)	2											84.0	79.0	81.0					2																	179399720		1860	4104	5964	179107966	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.96699C>T	2.37:g.179399720G>A			179107966	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37																																																																																					0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
IVL	3713	hgsc.bcm.edu	37	1	152883111	152883111	+	Missense_Mutation	SNP	A	A	T			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_III	WXS	454_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr1:152883111A>T	ENST00000368764.3	+	2	902	c.838A>T	c.(838-840)Atg>Ttg	p.M280L	IVL_ENST00000392667.2_Missense_Mutation_p.M134L			P07476	INVO_HUMAN	involucrin	280	39 X 10 AA approximate tandem repeats of [LP]-[EKG]-[LHVYQEK]-[PLSQE]-[EQDV]- [QHEKRGA]-Q-[EMVQLP]-[GKLE]-[QHVNLD].				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)	p.M280L(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGAGGAGCAGATGGGGCAGCT	0.637																																																1	Substitution - Missense(1)	ovary(1)	1											17.0	16.0	16.0					1																	152883111		2054	4013	6067	151149735	SO:0001583	missense	3713			BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.838A>T	1.37:g.152883111A>T	ENSP00000357753:p.Met280Leu		151149735	Q5T7P4	Missense_Mutation	SNP	ENST00000368764.3	37	CCDS1030.1	.	.	.	.	.	.	.	.	.	.	G	5.329	0.246034	0.10077	.	.	ENSG00000163207	ENST00000368764;ENST00000392667	T;T	0.09538	3.16;2.97	3.62	-1.79	0.07932	.	.	.	.	.	T	0.02012	0.0063	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44847	-0.9301	9	0.27785	T	0.31	.	10.6501	0.45642	0.1315:0.3007:0.5678:0.0	.	280	P07476	INVO_HUMAN	L	280;134	ENSP00000357753:M280L;ENSP00000376435:M134L	ENSP00000357753:M280L	M	+	1	0	IVL	151149735	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-2.175000	0.01263	-0.526000	0.06383	-1.032000	0.02404	ATG		0.637	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547	
ADAM22	53616	hgsc.bcm.edu	37	7	87782583	87782583	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr7:87782583G>C	ENST00000265727.7	+	21	1808	c.1729G>C	c.(1729-1731)Ggg>Cgg	p.G577R	ADAM22_ENST00000398204.4_Missense_Mutation_p.G577R|ADAM22_ENST00000398201.4_Missense_Mutation_p.G577R|ADAM22_ENST00000398209.3_Missense_Mutation_p.G577R|ADAM22_ENST00000315984.7_Missense_Mutation_p.G577R			Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	577	Cys-rich.				adult locomotory behavior (GO:0008344)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell adhesion (GO:0007162)	integral component of membrane (GO:0016021)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.G577R(2)		endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GAATATTGAAGGGACGGAGAA	0.438																																																2	Substitution - Missense(2)	ovary(2)	7											117.0	116.0	116.0					7																	87782583		1936	4134	6070	87620519	SO:0001583	missense	53616			AB009671	CCDS43608.1, CCDS43609.1, CCDS43610.1, CCDS47637.1	7q21	2008-07-18	2005-08-18		ENSG00000008277	ENSG00000008277		"""ADAM metallopeptidase domain containing"""	201	protein-coding gene	gene with protein product	"""metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2"""	603709	"""a disintegrin and metalloproteinase domain 22"""			9693107, 10524237	Standard	NM_021723		Approved	MDC2	uc003ujn.3	Q9P0K1	OTTHUMG00000137417	ENST00000265727.7:c.1729G>C	7.37:g.87782583G>C	ENSP00000265727:p.Gly577Arg		87620519	O75075|O75076|Q9P0K2|Q9UIA1|Q9UKK2	Missense_Mutation	SNP	ENST00000265727.7	37	CCDS47637.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.588711	0.86851	.	.	ENSG00000008277	ENST00000398204;ENST00000398201;ENST00000265727;ENST00000315984;ENST00000398209;ENST00000398203	T;T;T;T;T;T	0.27104	1.69;1.69;1.69;1.69;1.69;1.69	5.45	5.45	0.79879	ADAM, cysteine-rich (2);	0.000000	0.85682	D	0.000000	T	0.62588	0.2440	M	0.93106	3.38	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	T	0.72494	-0.4276	10	0.87932	D	0	.	18.0363	0.89303	0.0:0.0:1.0:0.0	.	629;577;577;577	E9PBH5;Q9P0K1-5;Q9P0K1;Q9P0K1-2	.;.;ADA22_HUMAN;.	R	577;577;577;577;577;544	ENSP00000381262:G577R;ENSP00000381260:G577R;ENSP00000265727:G577R;ENSP00000315900:G577R;ENSP00000381267:G577R;ENSP00000381261:G544R	ENSP00000265727:G577R	G	+	1	0	ADAM22	87620519	1.000000	0.71417	0.995000	0.50966	0.685000	0.39939	9.286000	0.95898	2.554000	0.86153	0.655000	0.94253	GGG		0.438	ADAM22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000268370.2	NM_021723	
BEND2	139105	hgsc.bcm.edu	37	X	18213448	18213448	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chrX:18213448G>C	ENST00000380033.4	-	7	1280	c.1148C>G	c.(1147-1149)gCc>gGc	p.A383G	BEND2_ENST00000380030.3_Intron	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	383								p.A383G(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						ATATGAAGAGGCTGGATATGG	0.388																																																1	Substitution - Missense(1)	ovary(1)	X											157.0	136.0	143.0					X																	18213448		2203	4300	6503	18123369	SO:0001583	missense	139105			AK128155	CCDS14184.1, CCDS55375.1	Xp22.22	2012-11-22	2008-10-03	2008-10-03	ENSG00000177324	ENSG00000177324		"""BEN domain containing"""	28509	protein-coding gene	gene with protein product			"""chromosome X open reading frame 20"""	CXorf20		12477932	Standard	NM_153346		Approved	MGC33653	uc004cyj.4	Q8NDZ0	OTTHUMG00000021211	ENST00000380033.4:c.1148C>G	X.37:g.18213448G>C	ENSP00000369372:p.Ala383Gly		18123369	E9PFY2|Q4V9S2|Q5JXE5	Missense_Mutation	SNP	ENST00000380033.4	37	CCDS14184.1	.	.	.	.	.	.	.	.	.	.	G	9.578	1.122706	0.20877	.	.	ENSG00000177324	ENST00000380033	T	0.26518	1.73	3.21	-4.31	0.03698	.	.	.	.	.	T	0.13415	0.0325	L	0.40543	1.245	0.09310	N	1	B	0.34015	0.435	B	0.29353	0.101	T	0.20174	-1.0283	9	0.22109	T	0.4	.	2.9725	0.05927	0.1345:0.1158:0.5276:0.2221	.	383	Q8NDZ0	BEND2_HUMAN	G	383	ENSP00000369372:A383G	ENSP00000369372:A383G	A	-	2	0	BEND2	18123369	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.325000	0.07976	-1.198000	0.02669	-0.255000	0.11280	GCC		0.388	BEND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055940.1	NM_153346	
DNAH9	1770	hgsc.bcm.edu	37	17	11572453	11572453	+	Missense_Mutation	SNP	C	C	T	rs556779874		TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr17:11572453C>T	ENST00000262442.4	+	16	2872	c.2804C>T	c.(2803-2805)cCg>cTg	p.P935L	DNAH9_ENST00000454412.2_Missense_Mutation_p.P935L	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	935	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.P935L(2)|p.P935R(1)|p.P935Q(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GTTTTCTATCCGTCTCTGGAG	0.468													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19701	0.0		0.0	False		,,,				2504	0.0															4	Substitution - Missense(4)	ovary(1)|NS(1)|lung(1)|kidney(1)	17											148.0	145.0	146.0					17																	11572453		2203	4300	6503	11513178	SO:0001583	missense	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.2804C>T	17.37:g.11572453C>T	ENSP00000262442:p.Pro935Leu		11513178	A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	C	17.97	3.519123	0.64634	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.37058	1.28;1.22	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.61274	0.2334	M	0.89414	3.03	0.80722	D	1	D	0.64830	0.994	P	0.54026	0.74	T	0.69595	-0.5103	10	0.59425	D	0.04	.	19.1973	0.93695	0.0:1.0:0.0:0.0	.	935	Q9NYC9	DYH9_HUMAN	L	935	ENSP00000262442:P935L;ENSP00000414874:P935L	ENSP00000262442:P935L	P	+	2	0	DNAH9	11513178	1.000000	0.71417	0.218000	0.23776	0.159000	0.22180	7.475000	0.81041	2.530000	0.85305	0.655000	0.94253	CCG		0.468	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372	
CACNA1G	8913	hgsc.bcm.edu	37	17	48678184	48678184	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr17:48678184C>G	ENST00000359106.5	+	18	3788	c.3788C>G	c.(3787-3789)tCc>tGc	p.S1263C	CACNA1G_ENST00000507336.1_Missense_Mutation_p.S1263C|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S1263C|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S1240C|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S1263C|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S1240C|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S1263C|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S1240C|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S1263C|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S1263C|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S1263C|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S1263C|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S1263C|CACNA1G_ENST00000416767.4_Missense_Mutation_p.S1263C|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S1240C|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S1263C|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S1240C|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S1263C|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S1263C|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S1240C|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S1263C|CACNA1G_ENST00000352832.5_Missense_Mutation_p.S1240C|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S1263C|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S1263C|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S1263C|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S1240C	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1263					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)	p.S1263C(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CCTCCTCAGTCCAGGTAAGTG	0.607																																																1	Substitution - Missense(1)	ovary(1)	17											44.0	50.0	48.0					17																	48678184		2089	4219	6308	46033183	SO:0001583	missense	8913			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.3788C>G	17.37:g.48678184C>G	ENSP00000352011:p.Ser1263Cys		46033183	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	ENST00000359106.5	37	CCDS45730.1	.	.	.	.	.	.	.	.	.	.	c	20.9	4.062970	0.76187	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896;ENST00000506520	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97642	-4.17;-4.17;-4.34;-4.1;-4.16;-4.16;-4.19;-4.26;-4.23;-4.24;-4.25;-4.12;-4.13;-4.2;-4.15;-4.1;-4.19;-4.14;-4.12;-4.19;-4.16;-4.12;-4.18;-4.13;-4.18;-4.18;-4.47	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	D	0.97879	0.9303	M	0.68317	2.08	0.58432	D	0.999999	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.989;0.999;1.0;0.999;1.0;0.999;0.998;1.0;0.999;0.999;1.0;0.999;0.998;1.0;0.999;0.999;0.988;0.998;1.0;0.999;0.999;0.998;1.0;0.999;0.982;0.993	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.87578	0.985;0.96;0.998;0.995;0.998;0.962;0.994;0.998;0.994;0.971;0.998;0.973;0.94;0.998;0.986;0.972;0.934;0.96;0.998;0.949;0.994;0.94;0.998;0.96;0.964;0.97	D	0.97847	1.0272	10	0.49607	T	0.09	.	13.7092	0.62659	0.1541:0.8459:0.0:0.0	.	1240;1263;1263;1263;1263;1263;1263;1263;1263;1263;1263;1240;1263;1263;1263;1263;1263;1240;1263;1240;1240;1240;1240;1263;1240;1263	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	C	1240;1240;1263;1240;1240;1240;1263;1263;1240;1263;1263;1263;1263;1263;1263;1240;1263;1263;1263;1263;1240;1263;1263;1263;1263;1263;78	ENSP00000353990:S1240C;ENSP00000339302:S1240C;ENSP00000392390:S1263C;ENSP00000347078:S1240C;ENSP00000409759:S1240C;ENSP00000425522:S1240C;ENSP00000426261:S1263C;ENSP00000425451:S1263C;ENSP00000422407:S1240C;ENSP00000426814:S1263C;ENSP00000427238:S1263C;ENSP00000423112:S1263C;ENSP00000420918:S1263C;ENSP00000426172:S1263C;ENSP00000423045:S1263C;ENSP00000427173:S1240C;ENSP00000426098:S1263C;ENSP00000425698:S1263C;ENSP00000426232:S1263C;ENSP00000423317:S1263C;ENSP00000350979:S1240C;ENSP00000352011:S1263C;ENSP00000414388:S1263C;ENSP00000423155:S1263C;ENSP00000422268:S1263C;ENSP00000421518:S1263C;ENSP00000427697:S78C	ENSP00000339302:S1240C	S	+	2	0	CACNA1G	46033183	0.998000	0.40836	0.992000	0.48379	0.889000	0.51656	4.018000	0.57174	2.453000	0.82957	0.655000	0.94253	TCC		0.607	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367895.1	NM_018896	
F13A1	2162	hgsc.bcm.edu	37	6	6222389	6222389	+	Missense_Mutation	SNP	C	C	A			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr6:6222389C>A	ENST00000264870.3	-	8	1254	c.989G>T	c.(988-990)gGa>gTa	p.G330V		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	330					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.G330V(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TGCTGGTATTCCAAGGCATCG	0.403																																																1	Substitution - Missense(1)	ovary(1)	6											107.0	92.0	97.0					6																	6222389		2203	4300	6503	6167388	SO:0001583	missense	2162			M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.989G>T	6.37:g.6222389C>A	ENSP00000264870:p.Gly330Val		6167388	Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	CCDS4496.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.4|25.4	4.639149|4.639149	0.87760|0.87760	.|.	.|.	ENSG00000124491|ENSG00000124491	ENST00000445223|ENST00000264870;ENST00000441301	.|D	.|0.99552	.|-6.15	5.76|5.76	5.76|5.76	0.90799|0.90799	.|Transglutaminase, conserved site (1);Transglutaminase-like (2);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.99819	.|0.9920	H|H	0.96547|0.96547	3.84|3.84	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	.|D	.|0.97142	.|0.9825	.|10	.|0.87932	.|D	.|0	.|.	18.9739|18.9739	0.92728|0.92728	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|267;330	.|F5H080;P00488	.|.;F13A_HUMAN	X|V	47|330;267	.|ENSP00000264870:G330V	.|ENSP00000264870:G330V	E|G	-|-	1|2	0|0	F13A1|F13A1	6167388|6167388	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.093000|7.093000	0.76937|0.76937	2.706000|2.706000	0.92434|0.92434	0.655000|0.655000	0.94253|0.94253	GAA|GGA		0.403	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129	
DST	667	hgsc.bcm.edu	37	6	56422287	56422287	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr6:56422287T>A	ENST00000361203.3	-	55	13844	c.13837A>T	c.(13837-13839)Aca>Tca	p.T4613S	DST_ENST00000370754.5_Missense_Mutation_p.T4793S|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Missense_Mutation_p.T2201S|DST_ENST00000370769.4_Missense_Mutation_p.T4615S|DST_ENST00000421834.2_Missense_Mutation_p.T2527S|DST_ENST00000446842.2_Missense_Mutation_p.T4289S|DST_ENST00000370788.2_Missense_Mutation_p.T2527S			Q03001	DYST_HUMAN	dystonin	4613					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.T4615S(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTATCAATTGTTAATTGATTG	0.348																																																1	Substitution - Missense(1)	ovary(1)	6											117.0	105.0	109.0					6																	56422287		1804	4070	5874	56530246	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.13837A>T	6.37:g.56422287T>A	ENSP00000354508:p.Thr4613Ser		56530246	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	T	18.38	3.610518	0.66558	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.51817	0.69;0.69;0.69;0.69;0.69;0.69;0.69	5.87	5.87	0.94306	.	0.000000	0.56097	D	0.000029	T	0.46386	0.1390	M	0.72894	2.215	0.24242	N	0.995352	P;P;P;P;P	0.52316	0.454;0.952;0.952;0.454;0.553	B;P;P;B;B	0.57720	0.266;0.826;0.826;0.138;0.281	T	0.52185	-0.8609	9	0.21540	T	0.41	.	8.8346	0.35104	0.0:0.1394:0.0:0.8606	.	2527;4615;4793;4613;2201	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	S	2201;4793;4615;2527;4289;2527;4613	ENSP00000244364:T2201S;ENSP00000359790:T4793S;ENSP00000359805:T4615S;ENSP00000400883:T2527S;ENSP00000393645:T4289S;ENSP00000359824:T2527S;ENSP00000354508:T4613S	ENSP00000244364:T2201S	T	-	1	0	DST	56530246	0.999000	0.42202	0.999000	0.59377	0.989000	0.77384	2.897000	0.48664	2.371000	0.80710	0.533000	0.62120	ACA		0.348	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
GRK1	6011	hgsc.bcm.edu	37	13	114325855	114325855	+	Missense_Mutation	SNP	C	C	T	rs117878269	byFrequency	TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	T	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr13:114325855C>T	ENST00000335678.6	+	3	1101	c.869C>T	c.(868-870)cCg>cTg	p.P290L		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	290	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)	p.A14V(1)		ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			CCTGGCTTCCCGGAGCCGCGC	0.602													c|||	11	0.00219649	0.0	0.0	5008	,	,		20033	0.0099		0.0	False		,,,				2504	0.001															1	Substitution - Missense(1)	ovary(1)	13							LEU/PRO	0,4026		0,0,2013	48.0	53.0	52.0		869	-3.5	0.0	13	dbSNP_132	52	3,8349		0,3,4173	yes	missense	GRK1	NM_002929.2	98	0,3,6186	TT,TC,CC		0.0359,0.0,0.0242	benign	290/564	114325855	3,12375	2013	4176	6189	113373856	SO:0001583	missense	6011					13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"""rhodopsin kinase"""	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.869C>T	13.37:g.114325855C>T	ENSP00000334876:p.Pro290Leu		113373856	Q53X14	Missense_Mutation	SNP	ENST00000335678.6	37		7	0.003205128205128205	0	0.0	0	0.0	7	0.012237762237762238	0	0.0	c	5.965	0.361949	0.11296	0.0	3.59E-4	ENSG00000185974	ENST00000335678	T	0.27104	1.69	4.43	-3.49	0.04724	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	2.005820	0.02051	N	0.050042	T	0.12347	0.0300	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.21586	-1.0241	9	0.72032	D	0.01	-1.7486	2.76	0.05303	0.5684:0.1554:0.0927:0.1836	.	290	Q15835	RK_HUMAN	L	290	ENSP00000334876:P290L	ENSP00000334876:P290L	P	+	2	0	GRK1	113373856	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.760000	0.04756	-1.023000	0.03342	-0.360000	0.07572	CCG		0.602	GRK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000470655.1	NM_002929	
IRAK3	11213	hgsc.bcm.edu	37	12	66638989	66638989	+	Missense_Mutation	SNP	T	T	G			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	T	T	G	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr12:66638989T>G	ENST00000261233.4	+	11	1682	c.1261T>G	c.(1261-1263)Ttg>Gtg	p.L421V	IRAK3_ENST00000457197.2_Missense_Mutation_p.L360V	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3									p.L421V(1)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GCTCTTCTGTTTGGCAGGCCG	0.463																																																1	Substitution - Missense(1)	ovary(1)	12											79.0	81.0	80.0					12																	66638989		2203	4300	6503	64925256	SO:0001583	missense	11213			AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.1261T>G	12.37:g.66638989T>G	ENSP00000261233:p.Leu421Val		64925256		Missense_Mutation	SNP	ENST00000261233.4	37	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	T	13.84	2.358208	0.41801	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.71698	-0.59;-0.59	5.89	-0.35	0.12606	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000006	T	0.72542	0.3473	L	0.41573	1.285	0.33194	D	0.551232	D;D	0.76494	0.999;0.999	D;D	0.83275	0.994;0.996	T	0.73594	-0.3933	9	.	.	.	-12.0483	8.8574	0.35236	0.0:0.5024:0.0:0.4976	.	360;421	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	V	421;360	ENSP00000261233:L421V;ENSP00000409852:L360V	.	L	+	1	2	IRAK3	64925256	0.000000	0.05858	0.995000	0.50966	0.031000	0.12232	-0.928000	0.03980	-0.065000	0.13021	-0.379000	0.06801	TTG		0.463	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1		
LPHN2	23266	hgsc.bcm.edu	37	1	82302706	82302706	+	Missense_Mutation	SNP	T	T	C			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr1:82302706T>C	ENST00000370728.1	+	5	682	c.37T>C	c.(37-39)Ttt>Ctt	p.F13L	LPHN2_ENST00000335786.5_Missense_Mutation_p.F13L|LPHN2_ENST00000370717.2_Missense_Mutation_p.F13L|LPHN2_ENST00000370725.1_Missense_Mutation_p.F13L|LPHN2_ENST00000370727.1_Missense_Mutation_p.F13L|LPHN2_ENST00000271029.4_Missense_Mutation_p.F13L|LPHN2_ENST00000370713.1_Missense_Mutation_p.F13L|LPHN2_ENST00000370723.1_Missense_Mutation_p.F13L|LPHN2_ENST00000319517.6_Missense_Mutation_p.F13L|LPHN2_ENST00000370730.1_Missense_Mutation_p.F13L|LPHN2_ENST00000370715.1_Missense_Mutation_p.F13L|LPHN2_ENST00000359929.3_Missense_Mutation_p.F13L|LPHN2_ENST00000370721.1_Missense_Mutation_p.F13L|LPHN2_ENST00000394879.1_Missense_Mutation_p.F13L|LPHN2_ENST00000469377.2_3'UTR			O95490	LPHN2_HUMAN	latrophilin 2	13					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)	p.F13L(1)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AAGTCTGTGGTTTATCATTGT	0.328																																																1	Substitution - Missense(1)	ovary(1)	1											177.0	172.0	173.0					1																	82302706		2203	4300	6503	82075294	SO:0001583	missense	23266			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.37T>C	1.37:g.82302706T>C	ENSP00000359763:p.Phe13Leu		82075294	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	ENST00000370728.1	37		.	.	.	.	.	.	.	.	.	.	T	8.164	0.790189	0.16258	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.67698	-0.27;-0.28;-0.28;-0.22;-0.22;-0.17;-0.23;-0.24;-0.23;-0.23;-0.22;-0.17;-0.22;-0.28	5.44	4.32	0.51571	.	0.625334	0.16213	N	0.224384	T	0.28200	0.0696	N	0.22421	0.69	0.33709	D	0.615571	B;B;B;B	0.22414	0.0;0.0;0.0;0.069	B;B;B;B	0.23419	0.001;0.001;0.001;0.046	T	0.06320	-1.0833	10	0.12430	T	0.62	.	7.1861	0.25801	0.0:0.2222:0.0:0.7778	.	13;13;13;13	O95490-3;O95490-4;O95490-2;B3KVU1	.;.;.;.	L	13	ENSP00000359756:F13L;ENSP00000359763:F13L;ENSP00000359765:F13L;ENSP00000359762:F13L;ENSP00000359760:F13L;ENSP00000359758:F13L;ENSP00000353006:F13L;ENSP00000359750:F13L;ENSP00000359748:F13L;ENSP00000322270:F13L;ENSP00000359752:F13L;ENSP00000378344:F13L;ENSP00000271029:F13L;ENSP00000337306:F13L	ENSP00000271029:F13L	F	+	1	0	LPHN2	82075294	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.429000	0.34903	2.070000	0.61991	0.383000	0.25322	TTT		0.328	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000027188.1	NM_012302	
NOS2	4843	hgsc.bcm.edu	37	17	26101406	26101406	+	Nonsense_Mutation	SNP	G	G	C			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr17:26101406G>C	ENST00000313735.6	-	12	1586	c.1353C>G	c.(1351-1353)taC>taG	p.Y451*		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	451					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)	p.Y451*(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	CACGGGACCGGTATTCATTCT	0.552																																																1	Substitution - Nonsense(1)	ovary(1)	17											96.0	92.0	94.0					17																	26101406		2203	4300	6503	23125533	SO:0001587	stop_gained	4843			U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.1353C>G	17.37:g.26101406G>C	ENSP00000327251:p.Tyr451*		23125533	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Nonsense_Mutation	SNP	ENST00000313735.6	37	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	G	39	7.373933	0.98245	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	.	.	.	5.67	4.67	0.58626	.	0.255358	0.34156	N	0.004219	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.8298	0.78741	0.0:0.1352:0.8648:0.0	.	.	.	.	X	451;412;451	.	ENSP00000305638:Y451X	Y	-	3	2	NOS2	23125533	1.000000	0.71417	1.000000	0.80357	0.758000	0.43043	3.086000	0.50159	2.667000	0.90743	0.561000	0.74099	TAC		0.552	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625	
PAPPA2	60676	hgsc.bcm.edu	37	1	176759015	176759015	+	Missense_Mutation	SNP	G	G	A			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr1:176759015G>A	ENST00000367662.3	+	18	5950	c.4786G>A	c.(4786-4788)Gag>Aag	p.E1596K		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1596	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E1596K(1)		NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						TGTGGTGTGTGAGCCACCCCC	0.478																																																1	Substitution - Missense(1)	ovary(1)	1											121.0	123.0	122.0					1																	176759015		2010	4168	6178	175025638	SO:0001583	missense	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.4786G>A	1.37:g.176759015G>A	ENSP00000356634:p.Glu1596Lys		175025638	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	ENST00000367662.3	37	CCDS41438.1	.	.	.	.	.	.	.	.	.	.	G	12.22	1.873308	0.33069	.	.	ENSG00000116183	ENST00000367662	T	0.76316	-1.01	5.51	1.59	0.23543	Complement control module (1);Sushi/SCR/CCP (2);	0.451574	0.25572	N	0.029753	T	0.58552	0.2130	N	0.22421	0.69	0.80722	D	1	B	0.06786	0.001	B	0.10450	0.005	T	0.38067	-0.9678	10	0.18276	T	0.48	-8.5939	7.0308	0.24967	0.431:0.0:0.569:0.0	.	1596	Q9BXP8	PAPP2_HUMAN	K	1596	ENSP00000356634:E1596K	ENSP00000356634:E1596K	E	+	1	0	PAPPA2	175025638	0.999000	0.42202	0.981000	0.43875	0.793000	0.44817	1.385000	0.34408	0.298000	0.22638	-0.259000	0.10710	GAG		0.478	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084763.1		
SACS	26278	hgsc.bcm.edu	37	13	23910712	23910712	+	Missense_Mutation	SNP	G	G	C			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr13:23910712G>C	ENST00000382292.3	-	9	7576	c.7303C>G	c.(7303-7305)Ctc>Gtc	p.L2435V	SACS_ENST00000402364.1_Missense_Mutation_p.L1685V|SACS_ENST00000382298.3_Missense_Mutation_p.L2435V			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2435					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)	p.L2288V(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCTCTAATGAGACTCCATATT	0.333																																																1	Substitution - Missense(1)	ovary(1)	13											64.0	66.0	66.0					13																	23910712		2202	4299	6501	22808712	SO:0001583	missense	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.7303C>G	13.37:g.23910712G>C	ENSP00000371729:p.Leu2435Val		22808712	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104408	0.37145	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.89123	-2.33;-2.47;-2.33	5.6	4.74	0.60224	.	0.067318	0.64402	N	0.000015	D	0.91815	0.7410	M	0.63428	1.95	0.37396	D	0.912641	D	0.63880	0.993	P	0.55923	0.787	D	0.93527	0.6866	10	0.54805	T	0.06	.	16.4828	0.84162	0.0:0.1312:0.8688:0.0	.	2435	Q9NZJ4	SACS_HUMAN	V	2435;1685;2435	ENSP00000371729:L2435V;ENSP00000385844:L1685V;ENSP00000371735:L2435V	ENSP00000371729:L2435V	L	-	1	0	SACS	22808712	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.623000	0.54224	1.351000	0.45789	0.561000	0.74099	CTC		0.333	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363	
TARS	6897	hgsc.bcm.edu	37	5	33461146	33461146	+	Missense_Mutation	SNP	C	C	G			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr5:33461146C>G	ENST00000265112.3	+	12	1701	c.1390C>G	c.(1390-1392)Cac>Gac	p.H464D	TARS_ENST00000502553.1_Missense_Mutation_p.H464D|TARS_ENST00000541634.1_Missense_Mutation_p.H360D|TARS_ENST00000509410.1_3'UTR|TARS_ENST00000414361.2_Missense_Mutation_p.H343D|TARS_ENST00000455217.2_Missense_Mutation_p.H497D	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	464					gene expression (GO:0010467)|threonyl-tRNA aminoacylation (GO:0006435)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|protein homodimerization activity (GO:0042803)|threonine-tRNA ligase activity (GO:0004829)	p.H464D(1)		NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	GGATGATGCTCACATATTCTG	0.448																																																1	Substitution - Missense(1)	ovary(1)	5											80.0	79.0	80.0					5																	33461146		2203	4300	6503	33496903	SO:0001583	missense	6897			AK095852	CCDS3899.1, CCDS58943.1	5p13.2	2012-10-02			ENSG00000113407	ENSG00000113407	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	11572	protein-coding gene	gene with protein product	"""threonine tRNA ligase 1, cytoplasmic"""	187790					Standard	NM_152295		Approved		uc011coc.3	P26639	OTTHUMG00000090683	ENST00000265112.3:c.1390C>G	5.37:g.33461146C>G	ENSP00000265112:p.His464Asp		33496903	A8K8I1|B4DEG8|Q96FP5|Q9BWA6	Missense_Mutation	SNP	ENST00000265112.3	37	CCDS3899.1	.	.	.	.	.	.	.	.	.	.	C	29.2	4.984845	0.93044	.	.	ENSG00000113407	ENST00000502553;ENST00000265112;ENST00000541634;ENST00000455217;ENST00000414361	T;T;T;T;T	0.69175	-0.38;-0.38;-0.38;-0.38;-0.38	6.17	6.17	0.99709	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.000000	0.85682	D	0.000000	D	0.92864	0.7730	H	0.99992	5.345	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.995;0.999	D;D;D;D	0.91635	0.999;0.991;0.929;0.991	D	0.95902	0.8916	10	0.87932	D	0	0.2031	20.8794	0.99867	0.0:1.0:0.0:0.0	.	343;497;360;464	E7ERI3;B4DEG8;G3XAN9;P26639	.;.;.;SYTC_HUMAN	D	464;464;360;497;343	ENSP00000424387:H464D;ENSP00000265112:H464D;ENSP00000438469:H360D;ENSP00000387710:H497D;ENSP00000394291:H343D	ENSP00000265112:H464D	H	+	1	0	TARS	33496903	1.000000	0.71417	0.987000	0.45799	0.991000	0.79684	7.792000	0.85828	2.941000	0.99782	0.655000	0.94253	CAC		0.448	TARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207367.1	NM_152295	
TP53	7157	hgsc.bcm.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr17:7578406C>T	ENST00000269305.4	-	5	713	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000420246.2_Missense_Mutation_p.R175H	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	175	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; does not induce SNAI1 degradation; reduces interaction with ZNF385A; dbSNP:rs28934578). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:8825920}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).		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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)	GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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"""	980	Substitution - Missense(944)|Deletion - Frameshift(17)|Whole gene deletion(8)|Deletion - In frame(8)|Complex - deletion inframe(3)	large_intestine(350)|breast(103)|upper_aerodigestive_tract(74)|stomach(70)|central_nervous_system(69)|oesophagus(67)|ovary(58)|lung(40)|haematopoietic_and_lymphoid_tissue(39)|urinary_tract(22)|prostate(17)|liver(14)|pancreas(11)|endometrium(10)|biliary_tract(10)|bone(9)|kidney(4)|cervix(4)|skin(3)|vulva(2)|soft_tissue(2)|penis(1)|adrenal_gland(1)	17	GRCh37	CM062017|CM951224	TP53	M	rs28934578						50.0	50.0	50.0					17																	7578406		2203	4300	6503	7519131	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.524G>A	17.37:g.7578406C>T	ENSP00000269305:p.Arg175His		7519131	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	.	.	.	.	.	.	.	.	.	.	C	31	5.079737	0.94050	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99889	-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55;-7.55	5.41	5.41	0.78517	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.101149	0.64402	D	0.000008	D	0.99908	0.9956	M	0.92784	3.345	0.80722	A	1	D;P;D;D;P;B;D	0.89917	0.999;0.578;1.0;0.998;0.632;0.213;0.999	D;B;D;D;B;B;D	0.91635	0.985;0.26;0.999;0.921;0.378;0.144;0.939	D	0.96278	0.9204	9	0.87932	D	0	-11.8679	17.0767	0.86588	0.0:1.0:0.0:0.0	rs28934578	136;175;175;82;175;175;175	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	H	175;175;175;175;175;175;164;82;43;82;43	ENSP00000410739:R175H;ENSP00000352610:R175H;ENSP00000269305:R175H;ENSP00000398846:R175H;ENSP00000391127:R175H;ENSP00000391478:R175H;ENSP00000425104:R43H;ENSP00000423862:R82H	ENSP00000269305:R175H	R	-	2	0	TP53	7519131	1.000000	0.71417	0.989000	0.46669	0.795000	0.44927	6.042000	0.70996	2.702000	0.92279	0.655000	0.94253	CGC		0.652	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
USH2A	7399	hgsc.bcm.edu	37	1	216011398	216011398	+	Missense_Mutation	SNP	T	T	A			TCGA-25-1318-01A-01W-0490-10	TCGA-25-1318-10A-01W-0490-10	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Sanger_PCR_WGA			SOLID	b7ee9284-b8cb-499f-833c-c9e86549b5b6	a77ae47c-0b62-4788-9e14-1b62dfdf3028	g.chr1:216011398T>A	ENST00000307340.3	-	47	9692	c.9306A>T	c.(9304-9306)caA>caT	p.Q3102H	USH2A_ENST00000366943.2_Missense_Mutation_p.Q3102H	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3102	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.Q3102H(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CAGTGGTAATTTGGGTTCCAT	0.363										HNSCC(13;0.011)																																						1	Substitution - Missense(1)	ovary(1)	1											244.0	221.0	229.0					1																	216011398		2203	4300	6503	214078021	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9306A>T	1.37:g.216011398T>A	ENSP00000305941:p.Gln3102His		214078021	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	13.72	2.321511	0.41096	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.53640	0.61;0.61	5.01	2.68	0.31781	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.341114	0.20952	N	0.082738	T	0.53417	0.1795	M	0.71296	2.17	0.42321	D	0.992257	D	0.71674	0.998	P	0.60173	0.87	T	0.55186	-0.8180	10	0.13853	T	0.58	.	4.0552	0.09813	0.1452:0.2297:0.0:0.6251	.	3102	O75445	USH2A_HUMAN	H	3102	ENSP00000305941:Q3102H;ENSP00000355910:Q3102H	ENSP00000305941:Q3102H	Q	-	3	2	USH2A	214078021	1.000000	0.71417	0.659000	0.29680	0.341000	0.28922	0.791000	0.26915	0.268000	0.21939	-0.266000	0.10368	CAA		0.363	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
