#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_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_deletion_substructures	i_domain	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_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
PLEKHN1	84069	genome.wustl.edu	37	1	902140	902140	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr1:902140G>C	ENST00000379409.2	+	2	170	c.140G>C	c.(139-141)gGg>gCg	p.G47A	PLEKHN1_ENST00000379407.3_Missense_Mutation_p.G47A|PLEKHN1_ENST00000379410.3_Missense_Mutation_p.G47A			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	47										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GCTCGAAGCGGGGACGCCGCC	0.731																																																0			1											7.0	9.0	9.0					1																	902140		2079	4121	6200	892003	SO:0001583	missense	84069			AL136730	CCDS4.1, CCDS53256.1	1p36.33	2013-01-11			ENSG00000187583	ENSG00000187583		"""Pleckstrin homology (PH) domain containing"""	25284	protein-coding gene	gene with protein product						11230166	Standard	NM_032129		Approved	DKFZP434H2010	uc001acd.3	Q494U1	OTTHUMG00000040756	ENST00000379409.2:c.140G>C	1.37:g.902140G>C	ENSP00000368719:p.Gly47Ala		892003	Q494U2|Q5SV98|Q9H0M7	Missense_Mutation	SNP	superfamily_SSF50729,HMMSmart_PH,HMMPfam_PH	p.G47A	ENST00000379409.2	37	c.140		1	.	.	.	.	.	.	.	.	.	.	G	8.875	0.950146	0.18431	.	.	ENSG00000187583	ENST00000379410;ENST00000379407;ENST00000379409	T;T;T	0.46063	0.88;0.91;0.9	5.43	3.55	0.40652	.	0.777662	0.11411	N	0.566803	T	0.31358	0.0794	N	0.24115	0.695	0.35684	D	0.814311	P;B;B	0.49559	0.925;0.112;0.383	P;B;B	0.44561	0.453;0.079;0.106	T	0.25257	-1.0137	10	0.35671	T	0.21	.	8.8322	0.35091	0.1744:0.0:0.8256:0.0	.	47;47;47	Q494U1-3;Q494U1;Q494U1-2	.;PKHN1_HUMAN;.	A	47	ENSP00000368720:G47A;ENSP00000368717:G47A;ENSP00000368719:G47A	ENSP00000368717:G47A	G	+	2	0	PLEKHN1	892003	0.360000	0.24964	0.853000	0.33588	0.099000	0.18886	0.522000	0.22909	1.308000	0.44962	0.558000	0.71614	GGG	-	NULL		0.731	PLEKHN1-005	KNOWN	basic	protein_coding	PLEKHN1	protein_coding	OTTHUMT00000473256.1	G	NM_032129		892003	+1	no_errors	NM_032129	genbank	human	provisional	54_36p	missense	SNP	0.316	C
ITGAE	3682	genome.wustl.edu	37	17	3649118	3649118	+	Silent	SNP	C	C	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr17:3649118C>T	ENST00000263087.4	-	18	2357	c.2259G>A	c.(2257-2259)agG>agA	p.R753R		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	753					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|integrin-mediated signaling pathway (GO:0007229)	external side of plasma membrane (GO:0009897)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.R753R(1)		NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TGCTCCACTCCCTCAGGCAGC	0.582																																					NSCLC(182;635 2928 8995 38788)											1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)	17											122.0	95.0	104.0					17																	3649118		2203	4300	6503	3595867	SO:0001819	synonymous_variant	3682			L25851	CCDS32531.1	17p13	2010-03-23				ENSG00000083457		"""CD molecules"", ""Integrins"""	6147	protein-coding gene	gene with protein product		604682				8119947	Standard	NM_002208		Approved	CD103, HUMINAE	uc002fwo.4	P38570		ENST00000263087.4:c.2259G>A	17.37:g.3649118C>T			3595867	Q17RS6|Q9NZU9	Silent	SNP	superfamily_SSF69318,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_VWA,HMMSmart_Int_alpha,HMMPfam_FG-GAP,HMMPfam_Integrin_alpha2,superfamily_SSF69179,PatternScan_INTEGRIN_ALPHA,HMMPfam_Integrin_alpha	p.R753	ENST00000263087.4	37	c.2259	CCDS32531.1	17																																																																																			-	HMMPfam_Integrin_alpha2,superfamily_SSF69179		0.582	ITGAE-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ITGAE	protein_coding	OTTHUMT00000438169.1	C	NM_002208		3595867	-1	no_errors	NM_002208	genbank	human	reviewed	54_36p	silent	SNP	0.031	T
OR51D1	390038	genome.wustl.edu	37	11	4661045	4661045	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr11:4661045C>G	ENST00000357605.2	+	1	101	c.25C>G	c.(25-27)Cct>Gct	p.P9A		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	9						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTCTTGGTCCCTATCATAGC	0.478																																																0			11											144.0	138.0	140.0					11																	4661045		2201	4298	6499	4617621	SO:0001583	missense	390038			AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"""GPCR / Class A : Olfactory receptors"""	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.25C>G	11.37:g.4661045C>G	ENSP00000350222:p.Pro9Ala		4617621	B9EIK4	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.P9A	ENST00000357605.2	37	c.25	CCDS31357.1	11	.	.	.	.	.	.	.	.	.	.	C	9.655	1.142529	0.21205	.	.	ENSG00000197428	ENST00000357605	T	0.00001	9.91	4.59	2.72	0.32119	.	0.000000	0.39210	N	0.001426	T	0.00039	0.0001	N	0.14661	0.345	0.09310	N	1	B	0.27498	0.18	B	0.19391	0.025	T	0.00018	-1.2372	10	0.16896	T	0.51	.	6.4226	0.21752	0.0:0.7838:0.0:0.2162	.	9	Q8NGF3	O51D1_HUMAN	A	9	ENSP00000350222:P9A	ENSP00000350222:P9A	P	+	1	0	OR51D1	4617621	0.001000	0.12720	0.004000	0.12327	0.002000	0.02628	0.197000	0.17197	1.288000	0.44600	-0.259000	0.10710	CCT	-	superfamily_SSF81321		0.478	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51D1	protein_coding	OTTHUMT00000385956.1	C	NM_001004751		4617621	+1	no_errors	NM_001004751	genbank	human	provisional	54_36p	missense	SNP	0.004	G
ALOX12	239	genome.wustl.edu	37	17	6902279	6902279	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr17:6902279G>C	ENST00000251535.6	+	5	603	c.550G>C	c.(550-552)Gag>Cag	p.E184Q	RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000399541.2_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	184	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						TAGGGCTCTGGAGATGGCCCT	0.532																																																0			17											145.0	131.0	136.0					17																	6902279		2203	4300	6503	6843003	SO:0001583	missense	239			M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.550G>C	17.37:g.6902279G>C	ENSP00000251535:p.Glu184Gln		6843003	O95569|Q6ISF8|Q9UQM4	Missense_Mutation	SNP	HMMPfam_PLAT,HMMSmart_LH2,superfamily_Lipase_LipOase,superfamily_Lipoxygenase,HMMPfam_Lipoxygenase,PatternScan_LIPOXYGENASE_1,PatternScan_LIPOXYGENASE_2	p.E184Q	ENST00000251535.6	37	c.550	CCDS11084.1	17	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831006	0.71258	.	.	ENSG00000108839	ENST00000251535	T	0.75367	-0.93	4.95	3.98	0.46160	Lipoxygenase, C-terminal (3);	0.179879	0.47852	D	0.000218	T	0.79776	0.4504	M	0.69823	2.125	0.39987	D	0.974994	D	0.56746	0.977	P	0.58210	0.835	T	0.80231	-0.1468	10	0.51188	T	0.08	-4.7196	8.5303	0.33331	0.1021:0.0:0.8979:0.0	.	184	P18054	LOX12_HUMAN	Q	184	ENSP00000251535:E184Q	ENSP00000251535:E184Q	E	+	1	0	ALOX12	6843003	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	4.499000	0.60380	2.741000	0.93983	0.551000	0.68910	GAG	-	superfamily_Lipoxygenase,HMMPfam_Lipoxygenase		0.532	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12	protein_coding	OTTHUMT00000219922.2	G			6843003	+1	no_errors	NM_000697	genbank	human	validated	54_36p	missense	SNP	0.980	C
LAMA1	284217	genome.wustl.edu	37	18	7050767	7050767	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr18:7050767G>C	ENST00000389658.3	-	4	607	c.514C>G	c.(514-516)Ccc>Gcc	p.P172A		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	172	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				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)			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)				CTGTAGGTGGGTGGCCCTCGT	0.527																																																0			18											127.0	104.0	112.0					18																	7050767		2203	4300	6503	7040767	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.514C>G	18.37:g.7050767G>C	ENSP00000374309:p.Pro172Ala		7040767		Missense_Mutation	SNP	HMMSmart_SM00136,HMMPfam_Laminin_N,superfamily_Galactose-binding domain-like,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMSmart_SM00181,superfamily_EGF/Laminin,PatternScan_EGF_2,HMMSmart_SM00281,HMMPfam_Laminin_B,HMMPfam_Laminin_I,HMMPfam_Laminin_II,HMMSmart_SM00282,HMMPfam_Laminin_G_1,HMMPfam_Laminin_G_2	p.P172A	ENST00000389658.3	37	c.514	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	G	26.9	4.782168	0.90282	.	.	ENSG00000101680	ENST00000389658	T	0.75050	-0.9	5.96	5.96	0.96718	Laminin, N-terminal (3);	0.000000	0.85682	D	0.000000	D	0.83732	0.5318	M	0.63208	1.945	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76473	-0.2946	10	0.08599	T	0.76	.	20.422	0.99049	0.0:0.0:1.0:0.0	.	172	P25391	LAMA1_HUMAN	A	172	ENSP00000374309:P172A	ENSP00000374309:P172A	P	-	1	0	LAMA1	7040767	1.000000	0.71417	0.970000	0.41538	0.922000	0.55478	9.869000	0.99810	2.832000	0.97577	0.655000	0.94253	CCC	-	HMMSmart_SM00136,HMMPfam_Laminin_N,superfamily_Galactose-binding domain-like		0.527	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	protein_coding	OTTHUMT00000257369.1	G	NM_005559		7040767	-1	no_errors	NM_005559	genbank	human	validated	54_36p	missense	SNP	0.997	C
TP53	7157	genome.wustl.edu	37	17	7578203	7578203	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr17:7578203C>T	ENST00000269305.4	-	6	835	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	TP53_ENST00000359597.4_Missense_Mutation_p.V216M|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.V216M|TP53_ENST00000455263.2_Missense_Mutation_p.V216M|TP53_ENST00000413465.2_Missense_Mutation_p.V216M|TP53_ENST00000445888.2_Missense_Mutation_p.V216M	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	216	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.V216M(61)|p.V216del(8)|p.0?(8)|p.V216L(7)|p.?(5)|p.V84M(3)|p.V123M(3)|p.V216fs*6(2)|p.H214fs*5(2)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(1)|p.S215_V218>M(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCACCACCACACTATGTCGA	0.537		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	113	Substitution - Missense(74)|Deletion - In frame(11)|Deletion - Frameshift(8)|Whole gene deletion(8)|Unknown(5)|Insertion - Frameshift(4)|Complex - deletion inframe(2)|Insertion - In frame(1)	breast(17)|lung(14)|haematopoietic_and_lymphoid_tissue(12)|ovary(12)|upper_aerodigestive_tract(10)|large_intestine(9)|oesophagus(9)|biliary_tract(5)|central_nervous_system(5)|bone(5)|stomach(4)|liver(4)|pancreas(3)|soft_tissue(2)|urinary_tract(1)|skin(1)	17	GRCh37	CX952222	TP53	X							123.0	111.0	115.0					17																	7578203		2203	4300	6503	7518928	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.646G>A	17.37:g.7578203C>T	ENSP00000269305:p.Val216Met		7518928	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.V216M	ENST00000269305.4	37	c.646	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958421	0.92726	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	D;D;D;D;D;D;D;D	0.99868	-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32;-7.32	5.28	5.28	0.74379	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99889	0.9947	M	0.92169	3.28	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.97110	1.0;1.0;0.996;1.0;1.0;1.0;1.0	D	0.96411	0.9304	10	0.87932	D	0	-12.2832	16.7921	0.85592	0.0:1.0:0.0:0.0	.	177;216;216;123;216;216;216	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	M	216;216;216;216;216;216;205;123;84;123;84	ENSP00000410739:V216M;ENSP00000352610:V216M;ENSP00000269305:V216M;ENSP00000398846:V216M;ENSP00000391127:V216M;ENSP00000391478:V216M;ENSP00000425104:V84M;ENSP00000423862:V123M	ENSP00000269305:V216M	V	-	1	0	TP53	7518928	1.000000	0.71417	0.978000	0.43139	0.971000	0.66376	7.775000	0.85489	2.634000	0.89283	0.563000	0.77884	GTG	-	HMMPfam_P53,superfamily_p53-like transcription factors		0.537	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7518928	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
CPSF3	51692	genome.wustl.edu	37	2	9611541	9611541	+	Missense_Mutation	SNP	A	A	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr2:9611541A>T	ENST00000238112.3	+	17	2132	c.1926A>T	c.(1924-1926)aaA>aaT	p.K642N	CPSF3_ENST00000489403.1_3'UTR|IAH1_ENST00000482918.1_5'Flank|CPSF3_ENST00000460593.1_Missense_Mutation_p.K605N	NM_016207.3	NP_057291.1	Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	642					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|ribonucleoprotein complex (GO:0030529)	5'-3' exonuclease activity (GO:0008409)|endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		TGGACGGGAAAACTGCCAACC	0.413																																					Colon(194;1259 2048 3845 5218 19985)											0			2											195.0	164.0	175.0					2																	9611541		2203	4300	6503	9528992	SO:0001583	missense	51692			AF171877	CCDS1664.1	2p25.1	2009-01-06	2002-08-29		ENSG00000119203	ENSG00000119203			2326	protein-coding gene	gene with protein product		606029	"""cleavage and polyadenylation specific factor 3, 73kD subunit"""			8929409	Standard	NM_016207		Approved	CPSF-73, CPSF73, YSH1	uc002qzo.2	Q9UKF6	OTTHUMG00000090415	ENST00000238112.3:c.1926A>T	2.37:g.9611541A>T	ENSP00000238112:p.Lys642Asn		9528992	O14769|Q53RS2|Q96F36	Missense_Mutation	SNP	superfamily_Metallo-hydrolase/oxidoreductase,HMMPfam_Lactamase_B,HMMPfam_RMMBL	p.K642N	ENST00000238112.3	37	c.1926	CCDS1664.1	2	.	.	.	.	.	.	.	.	.	.	A	12.74	2.027755	0.35797	.	.	ENSG00000119203	ENST00000238112;ENST00000540142;ENST00000460593	T;T	0.44083	0.93;0.93	5.28	-1.64	0.08318	-end-processing endonuclease polyadenylation factor C-term (1);Pre-mRNA 3&apos (1);	0.113387	0.64402	D	0.000015	T	0.26048	0.0635	L	0.33753	1.03	0.58432	D	0.999999	B	0.09022	0.002	B	0.10450	0.005	T	0.12682	-1.0538	10	0.15499	T	0.54	-34.0436	11.2723	0.49147	0.4053:0.0:0.5947:0.0	.	642	Q9UKF6	CPSF3_HUMAN	N	642;364;605	ENSP00000238112:K642N;ENSP00000418957:K605N	ENSP00000238112:K642N	K	+	3	2	CPSF3	9528992	1.000000	0.71417	0.912000	0.35992	0.968000	0.65278	1.357000	0.34090	-0.121000	0.11787	-0.256000	0.11100	AAA	-	NULL		0.413	CPSF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF3	protein_coding	OTTHUMT00000206843.1	A	NM_016207		9528992	+1	no_errors	NM_016207	genbank	human	provisional	54_36p	missense	SNP	1.000	T
LHFPL4	375323	genome.wustl.edu	37	3	9594307	9594307	+	Silent	SNP	C	C	G	rs370835564		TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr3:9594307C>G	ENST00000287585.6	-	2	342	c.57G>C	c.(55-57)tcG>tcC	p.S19S	LHFPL4_ENST00000495730.1_5'Flank	NM_198560.2	NP_940962.1	Q86UP9	LHPL3_HUMAN	lipoma HMGIC fusion partner-like 4	33						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					CGATGGCCCGCGAGTTCCGCA	0.687																																																0			3											60.0	67.0	65.0					3																	9594307		2203	4300	6503	9569307	SO:0001819	synonymous_variant	375323			AY278320	CCDS33691.1	3p25.3	2006-06-13			ENSG00000156959	ENSG00000156959			29568	protein-coding gene	gene with protein product		610240				15905332	Standard	NM_198560		Approved		uc003bry.3	Q7Z7J7	OTTHUMG00000155066	ENST00000287585.6:c.57G>C	3.37:g.9594307C>G			9569307	A1L383|A4D0Q5	Silent	SNP	HMMPfam_L_HGMIC_fpl	p.S19	ENST00000287585.6	37	c.57	CCDS33691.1	3																																																																																			-	NULL		0.687	LHFPL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LHFPL4	protein_coding	OTTHUMT00000338298.1	C	NM_198560		9569307	-1	no_errors	NM_198560	genbank	human	reviewed	54_36p	silent	SNP	1.000	G
JAGN1	84522	genome.wustl.edu	37	3	9935022	9935022	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr3:9935022C>A	ENST00000307768.4	+	2	682	c.513C>A	c.(511-513)gaC>gaA	p.D171E		NM_032492.3	NP_115881.3			jagunal homolog 1 (Drosophila)											breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1)	10	Medulloblastoma(99;0.227)					AGCTCCTAGACTCTTGGTTCA	0.493																																																0			3											129.0	86.0	101.0					3																	9935022		2203	4300	6503	9910022	SO:0001583	missense	84522			AK074760	CCDS2588.1	3p25.2	2010-03-23			ENSG00000171135	ENSG00000171135			26926	protein-coding gene	gene with protein product						12477932	Standard	NM_032492		Approved	GL009, FLJ14602	uc003btt.4	Q8N5M9	OTTHUMG00000128523	ENST00000307768.4:c.513C>A	3.37:g.9935022C>A	ENSP00000306106:p.Asp171Glu		9910022		Missense_Mutation	SNP	HMMPfam_DUF1352	p.D171E	ENST00000307768.4	37	c.513	CCDS2588.1	3	.	.	.	.	.	.	.	.	.	.	C	9.185	1.024636	0.19433	.	.	ENSG00000171135	ENST00000307768;ENST00000543379	.	.	.	5.73	3.0	0.34707	.	0.000000	0.85682	D	0.000000	T	0.52677	0.1749	M	0.75264	2.295	0.46823	D	0.999219	P	0.34934	0.476	B	0.29267	0.1	T	0.49698	-0.8912	9	0.40728	T	0.16	-24.8943	10.8856	0.46965	0.0:0.794:0.0:0.206	.	171	Q8N5M9	JAGN1_HUMAN	E	171;169	.	ENSP00000306106:D171E	D	+	3	2	JAGN1	9910022	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	2.049000	0.41288	0.370000	0.24538	-1.169000	0.01745	GAC	-	HMMPfam_DUF1352		0.493	JAGN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAGN1	protein_coding	OTTHUMT00000250335.1	C	NM_032492		9910022	+1	no_errors	NM_032492	genbank	human	validated	54_36p	missense	SNP	1.000	A
ICAM5	7087	genome.wustl.edu	37	19	10406148	10406148	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr19:10406148G>A	ENST00000221980.4	+	10	2420	c.2357G>A	c.(2356-2358)gGg>gAg	p.G786E		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	786	Ig-like C2-type 9.			G -> R (in Ref. 2; AAC97931). {ECO:0000305}.	phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			gcgcccccgggggcccTCAAC	0.711																																																0			19											5.0	6.0	6.0					19																	10406148		2090	4148	6238	10267148	SO:0001583	missense	7087			U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.2357G>A	19.37:g.10406148G>A	ENSP00000221980:p.Gly786Glu		10267148	Q9Y6F3	Missense_Mutation	SNP	HMMPfam_ICAM_N,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMPfam_ig,HMMSmart_SM00408,HMMPfam_I-set	p.G786E	ENST00000221980.4	37	c.2357	CCDS12233.1	19	.	.	.	.	.	.	.	.	.	.	G	21.3	4.131648	0.77662	.	.	ENSG00000105376	ENST00000221980	T	0.10960	2.82	4.72	4.72	0.59763	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.51477	D	0.000094	T	0.22666	0.0547	L	0.41124	1.26	0.38153	D	0.938802	D	0.89917	1.0	D	0.97110	1.0	T	0.01549	-1.1327	10	0.35671	T	0.21	-36.6516	13.0387	0.58887	0.0:0.0:1.0:0.0	.	786	Q9UMF0	ICAM5_HUMAN	E	786	ENSP00000221980:G786E	ENSP00000221980:G786E	G	+	2	0	ICAM5	10267148	1.000000	0.71417	0.988000	0.46212	0.778000	0.44026	4.578000	0.60929	2.469000	0.83416	0.549000	0.68633	GGG	-	superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig		0.711	ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM5	protein_coding	OTTHUMT00000451217.1	G	NM_003259		10267148	+1	no_errors	NM_003259	genbank	human	reviewed	54_36p	missense	SNP	0.987	A
PRSS55	203074	genome.wustl.edu	37	8	10390534	10390534	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr8:10390534G>C	ENST00000328655.3	+	4	757	c.717G>C	c.(715-717)aaG>aaC	p.K239N	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.K239N	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	239	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						CCGGATACAAGAATGAGAGCT	0.483																																																0			8											120.0	102.0	108.0					8																	10390534		2203	4300	6503	10427944	SO:0001583	missense	203074			AY358867	CCDS5976.1, CCDS56523.1	8p23.1	2014-01-21			ENSG00000184647	ENSG00000184647		"""Serine peptidases / Serine peptidases"""	30824	protein-coding gene	gene with protein product		615144				12975309, 18844450	Standard	NM_198464		Approved	T-SP1, UNQ9391, CT153	uc003wta.3	Q6UWB4	OTTHUMG00000129345	ENST00000328655.3:c.717G>C	8.37:g.10390534G>C	ENSP00000333003:p.Lys239Asn		10427944	E5RJX5	Missense_Mutation	SNP	superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin,PatternScan_TRYPSIN_HIS,PatternScan_TRYPSIN_SER	p.K239N	ENST00000328655.3	37	c.717	CCDS5976.1	8	.	.	.	.	.	.	.	.	.	.	G	0.029	-1.349436	0.01266	.	.	ENSG00000184647	ENST00000328655;ENST00000522210	D;D	0.89270	-2.49;-2.49	5.42	-0.217	0.13149	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.179350	0.02646	N	0.105917	T	0.80303	0.4598	N	0.17838	0.53	0.09310	N	1	P	0.44521	0.837	B	0.38755	0.281	T	0.69506	-0.5127	10	0.18710	T	0.47	.	9.148	0.36944	0.0748:0.0:0.4447:0.4805	.	239	Q6UWB4	PRS55_HUMAN	N	239	ENSP00000333003:K239N;ENSP00000430459:K239N	ENSP00000333003:K239N	K	+	3	2	PRSS55	10427944	0.045000	0.20229	0.000000	0.03702	0.049000	0.14656	0.248000	0.18198	-0.187000	0.10516	-1.378000	0.01179	AAG	-	superfamily_Trypsin-like serine proteases,HMMSmart_SM00020,HMMPfam_Trypsin		0.483	PRSS55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNQ9391	protein_coding	OTTHUMT00000251493.3	G	NM_198464		10427944	+1	no_errors	NM_198464	genbank	human	validated	54_36p	missense	SNP	0.001	C
CASP9	842	genome.wustl.edu	37	1	15821826	15821826	+	Missense_Mutation	SNP	G	G	T	rs137972744	byFrequency	TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr1:15821826G>T	ENST00000333868.5	-	7	1084	c.990C>A	c.(988-990)gaC>gaA	p.D330E	CASP9_ENST00000348549.5_Missense_Mutation_p.D180E|CASP9_ENST00000375890.4_Missense_Mutation_p.D247E|CASP9_ENST00000546424.1_Missense_Mutation_p.D330E	NM_001229.3	NP_001220.2	P55211	CASP9_HUMAN	caspase 9, apoptosis-related cysteine peptidase	330					activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|aging (GO:0007568)|apoptotic process (GO:0006915)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell apoptotic process (GO:0034349)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of apoptotic process (GO:0043065)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of apoptotic process (GO:0042981)|regulation of response to DNA damage stimulus (GO:2001020)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|signal transduction in response to DNA damage (GO:0042770)	apoptosome (GO:0043293)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|enzyme activator activity (GO:0008047)|peptidase activity (GO:0008233)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		TAGATATGGCGTCCAGCTGGT	0.582																																																0			1											111.0	77.0	88.0					1																	15821826		2203	4300	6503	15694413	SO:0001583	missense	842			U60521	CCDS158.1, CCDS159.1, CCDS159.2, CCDS59995.1	1p36.21	2012-04-17	2005-08-17		ENSG00000132906	ENSG00000132906		"""Caspases"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1511	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 56"""	602234	"""caspase 9, apoptosis-related cysteine protease"""			8663294, 9390557	Standard	NM_001229		Approved	MCH6, ICE-LAP6, APAF-3, PPP1R56	uc001awn.4	P55211	OTTHUMG00000002256	ENST00000333868.5:c.990C>A	1.37:g.15821826G>T	ENSP00000330237:p.Asp330Glu		15694413	B4E1A3|O95348|Q53Y70|Q5JRU9|Q5UGI1|Q92852|Q9BQ62|Q9UEQ3|Q9UIJ8	Missense_Mutation	SNP	HMMSmart_SM00114,superfamily_DEATH domain,HMMPfam_CARD,superfamily_Caspase-like,HMMSmart_SM00115,HMMPfam_Peptidase_C14,PatternScan_CASPASE_HIS,PatternScan_CASPASE_CYS	p.D330E	ENST00000333868.5	37	c.990	CCDS158.1	1	.	.	.	.	.	.	.	.	.	.	G	16.82	3.227990	0.58777	.	.	ENSG00000132906	ENST00000546424;ENST00000333868;ENST00000348549;ENST00000375890;ENST00000447522	T;T;T;T;T	0.03386	3.95;3.95;3.95;3.95;3.95	5.06	-10.1	0.00402	Peptidase C14, caspase catalytic (1);Peptidase C14, caspase precursor p45, core (1);	0.000000	0.85682	D	0.000000	T	0.13500	0.0327	M	0.79475	2.455	0.32773	N	0.503528	D;D;D	0.89917	1.0;0.996;0.999	D;D;D	0.87578	0.998;0.977;0.994	T	0.58885	-0.7557	10	0.72032	D	0.01	.	18.4994	0.90876	0.7721:0.0:0.2279:0.0	.	180;330;330	P55211-2;P55211;F8VVS7	.;CASP9_HUMAN;.	E	330;330;180;247;247	ENSP00000449584:D330E;ENSP00000330237:D330E;ENSP00000255256:D180E;ENSP00000365051:D247E;ENSP00000396540:D247E	ENSP00000330237:D330E	D	-	3	2	CASP9	15694413	0.004000	0.15560	0.001000	0.08648	0.015000	0.08874	-1.326000	0.02685	-2.844000	0.00334	-0.910000	0.02820	GAC	-	superfamily_Caspase-like,HMMSmart_SM00115,HMMPfam_Peptidase_C14		0.582	CASP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASP9	protein_coding	OTTHUMT00000006438.1	G	NM_032996		15694413	-1	no_errors	NM_001229	genbank	human	reviewed	54_36p	missense	SNP	0.827	T
FLII	2314	genome.wustl.edu	37	17	18154772	18154772	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr17:18154772G>A	ENST00000327031.4	-	13	1628	c.1403C>T	c.(1402-1404)gCc>gTc	p.A468V	FLII_ENST00000584444.1_5'Flank|FLII_ENST00000579294.1_Missense_Mutation_p.A457V|FLII_ENST00000545457.2_Missense_Mutation_p.A413V|FLII_ENST00000379450.4_Missense_Mutation_p.A382V|FLII_ENST00000578558.1_Missense_Mutation_p.A467V	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	468					multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)	actin binding (GO:0003779)			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CCCGCTGGGGGCCCGGGCATC	0.657																																																0			17																																								18095497	SO:0001583	missense	2314			U01184	CCDS11192.1, CCDS58521.1, CCDS58522.1	17p11.2	2008-07-18	2001-11-28		ENSG00000177731	ENSG00000177731			3750	protein-coding gene	gene with protein product		600362	"""flightless I (Drosophila) homolog"""			7825574	Standard	NM_002018		Approved	FLI, FLIL, Fli1, MGC39265	uc002gsr.2	Q13045	OTTHUMG00000059389	ENST00000327031.4:c.1403C>T	17.37:g.18154772G>A	ENSP00000324573:p.Ala468Val		18095497	B4DIL0|F5H407|J3QLG3	Missense_Mutation	SNP	superfamily_SSF52047,HMMPfam_LRR_1,superfamily_SSF52058,HMMSmart_LRR_TYP,superfamily_SSF55753,HMMSmart_GEL,HMMPfam_Gelsolin	p.A468V	ENST00000327031.4	37	c.1403	CCDS11192.1	17	.	.	.	.	.	.	.	.	.	.	G	6.717	0.501035	0.12822	.	.	ENSG00000177731	ENST00000327031;ENST00000545457;ENST00000379450	T;T	0.36340	1.26;1.35	5.5	1.93	0.25924	.	0.780131	0.12415	N	0.470906	T	0.18551	0.0445	N	0.25890	0.77	0.09310	N	1	B;B;B;B;B	0.10296	0.0;0.0;0.003;0.0;0.0	B;B;B;B;B	0.08055	0.0;0.0;0.003;0.001;0.0	T	0.29610	-1.0006	10	0.08179	T	0.78	-13.3405	3.3715	0.07223	0.1494:0.1192:0.5137:0.2176	.	382;382;468;468;437	E7EPM0;B4DIL0;F5H407;Q13045;B4DIX0	.;.;.;FLII_HUMAN;.	V	468;468;382	ENSP00000324573:A468V;ENSP00000368763:A382V	ENSP00000324573:A468V	A	-	2	0	FLII	18095497	0.366000	0.25014	0.004000	0.12327	0.014000	0.08584	1.650000	0.37292	0.698000	0.31739	-0.219000	0.12488	GCC	-	superfamily_SSF55753		0.657	FLII-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLII	protein_coding	OTTHUMT00000132032.2	G	NM_002018		18095497	-1	no_errors	NM_002018	genbank	human	reviewed	54_36p	missense	SNP	0.000	A
FEM1AP4	729524	genome.wustl.edu	37	13	19240508	19240508	+	IGR	SNP	A	A	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr13:19240508A>T								LINC00388 (54693 upstream) : LINC00387 (6458 downstream)																							GCGCATCCTCAGTCCCTCGCA	0.597																																																0			13																																								18138508	SO:0001628	intergenic_variant	729524																															13.37:g.19240508A>T			18138508		RNA	SNP	-	NULL		37	NULL		13																																																																																			-	-	0	0.597					LOC729524			A			18138508	+1	pseudogene	XR_015575	genbank	human	model	54_36p	rna	SNP	1.000	T
HERC2P3	283755	genome.wustl.edu	37	15	20657723	20657723	+	RNA	SNP	C	C	A			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr15:20657723C>A	ENST00000428453.1	-	0	2235							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CTGAGCATCACCAGGAGGAAG	0.602																																																0			15											56.0	48.0	51.0					15																	20657723		2097	4192	6289	18917737			400322			AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20657723C>A			18917737		Missense_Mutation	SNP	HMMPfam_MIB_HERC2	p.V516L	ENST00000428453.1	37	c.1546		15																																																																																			-	NULL		0.602	HERC2P3-014	KNOWN	basic	processed_transcript	HERC2P2	pseudogene	OTTHUMT00000347772.2	C	NG_008269		18917737	-1	no_errors	ENST00000324413	ensembl	human	known	54_36p	missense	SNP	1.000	A
LZTR1	8216	genome.wustl.edu	37	22	21347964	21347964	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr22:21347964C>A	ENST00000215739.8	+	12	1633	c.1274C>A	c.(1273-1275)cCt>cAt	p.P425H	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.P406H	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	425					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TCCTGTTACCCTAAATGCACG	0.642																																																0			22											57.0	46.0	50.0					22																	21347964		2202	4300	6502	19677964	SO:0001583	missense	8216			D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.1274C>A	22.37:g.21347964C>A	ENSP00000215739:p.Pro425His		19677964	Q14776|Q20WK0	Missense_Mutation	SNP	superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612,HMMPfam_Kelch_2,superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_BTB	p.P425H	ENST00000215739.8	37	c.1274	CCDS33606.1	22	.	.	.	.	.	.	.	.	.	.	C	19.62	3.861301	0.71949	.	.	ENSG00000099949	ENST00000539817;ENST00000215739;ENST00000389355	T;T	0.61158	0.56;0.13	4.7	4.7	0.59300	BTB/POZ fold (2);	0.052223	0.85682	D	0.000000	T	0.72581	0.3478	M	0.69823	2.125	0.80722	D	1	D;D;D;D	0.89917	0.999;1.0;0.999;0.997	D;D;D;D	0.68621	0.915;0.959;0.915;0.912	T	0.75926	-0.3145	10	0.87932	D	0	-32.8927	13.0129	0.58741	0.0:1.0:0.0:0.0	.	406;384;425;384	B7Z3T9;Q6ZSY0;Q8N653;F5GXU8	.;.;LZTR1_HUMAN;.	H	384;425;406	ENSP00000215739:P425H;ENSP00000374006:P406H	ENSP00000215739:P425H	P	+	2	0	LZTR1	19677964	1.000000	0.71417	1.000000	0.80357	0.517000	0.34286	7.373000	0.79623	2.432000	0.82394	0.563000	0.77884	CCT	-	superfamily_POZ domain		0.642	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LZTR1	protein_coding	OTTHUMT00000320387.1	C	NM_006767		19677964	+1	no_errors	NM_006767	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
NBL1	4681	genome.wustl.edu	37	1	19983391	19983391	+	Silent	SNP	G	G	C			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr1:19983391G>C	ENST00000375136.3	+	4	618	c.315G>C	c.(313-315)gtG>gtC	p.V105V	NBL1_ENST00000289749.2_Silent_p.V140V|MINOS1-NBL1_ENST00000602662.1_Silent_p.V105V|NBL1_ENST00000548815.1_Silent_p.V104V	NM_001204085.1|NM_001204089.1|NM_001278164.1|NM_001278166.1	NP_001191014.1|NP_001191018.1|NP_001265093.1|NP_001265095.1	P41271	NBL1_HUMAN	neuroblastoma 1, DAN family BMP antagonist	105	CTCK.				determination of dorsal identity (GO:0048263)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of monocyte chemotaxis (GO:0090027)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)|positive regulation of neuron differentiation (GO:0045666)|sequestering of BMP from receptor via BMP binding (GO:0038098)|sequestering of BMP in extracellular matrix (GO:0035582)	extracellular space (GO:0005615)	BMP binding (GO:0036122)|morphogen activity (GO:0016015)|protein homodimerization activity (GO:0042803)			lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACGAGGAGGTGCCCAGGGTGG	0.647																																																0			1											51.0	46.0	48.0					1																	19983391		2202	4300	6502	19855978	SO:0001819	synonymous_variant	4681				CCDS196.1, CCDS41278.1, CCDS196.2, CCDS72720.1	1p36.3-p36.2	2013-02-26	2013-02-26		ENSG00000158747	ENSG00000158747			7650	protein-coding gene	gene with protein product	"""neuroblastoma candidate region, suppression of tumorigenicity 1"", ""neuroblastoma suppressor of tumorigenicity 1"", ""differential screening-selected gene aberrant in neuroblastoma"""	600613	"""neuroblastoma, suppression of tumorigenicity 1"""			7633401	Standard	NM_182744		Approved	D1S1733E, NB, DAN, NO3, DAND1	uc001bcj.2	P41271	OTTHUMG00000002700	ENST00000375136.3:c.315G>C	1.37:g.19983391G>C			19855978	A3KFI7|Q5TGZ2|Q5U0N4|Q96L68	Silent	SNP	HMMPfam_DAN,HMMSmart_CT	p.V140	ENST00000375136.3	37	c.420	CCDS196.2	1																																																																																			-	HMMPfam_DAN,HMMSmart_CT		0.647	NBL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBL1	protein_coding	OTTHUMT00000007681.4	G	NM_005380		19855978	+1	no_errors	NM_182744	genbank	human	reviewed	54_36p	silent	SNP	0.999	C
OSBPL1A	114876	genome.wustl.edu	37	18	21743245	21743245	+	Splice_Site	SNP	C	C	G			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr18:21743245C>G	ENST00000319481.3	-	28	2957	c.2751G>C	c.(2749-2751)agG>agC	p.R917S	OSBPL1A_ENST00000357041.4_Splice_Site_p.R535S|RP11-799B12.4_ENST00000583267.1_lincRNA|OSBPL1A_ENST00000399443.3_Splice_Site_p.R404S	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	917					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|late endosome (GO:0005770)|lysosomal membrane (GO:0005765)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|phospholipid binding (GO:0005543)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					GATGGAACCACCTGTTAAAAG	0.398																																																0			18											84.0	83.0	84.0					18																	21743245		2203	4300	6503	19997243	SO:0001630	splice_region_variant	114876			AF392449, AF274714	CCDS11884.1, CCDS11885.1, CCDS56056.1	18q11.2	2014-06-03	2014-06-03	2014-06-03	ENSG00000141447	ENSG00000141447		"""Oxysterol binding proteins"", ""Ankyrin repeat domain containing"""	16398	protein-coding gene	gene with protein product		606730	"""oxysterol binding protein-like 1B"""	OSBPL1B		11279184, 10588946	Standard	NM_080597		Approved	ORP-1, ORP1	uc002kve.3	Q9BXW6	OTTHUMG00000131944	ENST00000319481.3:c.2751-1G>C	18.37:g.21743245C>G			19997243	B7Z7D3|Q9BZF5|Q9NW87	Missense_Mutation	SNP	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,HMMSmart_SM00233,superfamily_PH domain-like,HMMPfam_Oxysterol_BP,PatternScan_OSBP	p.R917S	ENST00000319481.3	37	c.2751	CCDS11884.1	18	.	.	.	.	.	.	.	.	.	.	C	19.39	3.818116	0.71028	.	.	ENSG00000141447	ENST00000319481;ENST00000399443;ENST00000357041	T;T;T	0.33654	1.4;1.4;1.4	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.66973	0.2844	M	0.93763	3.455	0.80722	D	1	D	0.69078	0.997	D	0.80764	0.994	T	0.73780	-0.3875	10	0.66056	D	0.02	.	10.2946	0.43616	0.0:0.8499:0.0:0.1501	.	917	Q9BXW6	OSBL1_HUMAN	S	917;404;535	ENSP00000320291:R917S;ENSP00000382372:R404S;ENSP00000349545:R535S	ENSP00000320291:R917S	R	-	3	2	OSBPL1A	19997243	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.848000	0.55903	2.788000	0.95919	0.655000	0.94253	AGG	-	HMMPfam_Oxysterol_BP		0.398	OSBPL1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL1A	protein_coding	OTTHUMT00000254902.1	C	NM_080597	Missense_Mutation	19997243	-1	no_errors	NM_080597	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
ZNF208	7757	genome.wustl.edu	37	19	22154858	22154858	+	Missense_Mutation	SNP	A	A	C			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr19:22154858A>C	ENST00000397126.4	-	4	3126	c.2978T>G	c.(2977-2979)gTa>gGa	p.V993G	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2	O43345	ZN208_HUMAN	zinc finger protein 208	993					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AGTATGAATTACCTTATGTTT	0.343																																																0			19											57.0	62.0	60.0					19																	22154858		2087	4237	6324	21946698	SO:0001583	missense	7757			BC038199	CCDS54240.1	19p12	2013-01-08				ENSG00000160321		"""Zinc fingers, C2H2-type"", ""-"""	12999	protein-coding gene	gene with protein product	"""zinc finger protein 95"""	603977				9724325	Standard	NM_007153		Approved	PMIDP, ZNF95	uc021urr.1	O43345		ENST00000397126.4:c.2978T>G	19.37:g.22154858A>C	ENSP00000380315:p.Val993Gly		21946698		Missense_Mutation	SNP	superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_Multiheme cytochromes	p.V864G	ENST00000397126.4	37	c.2591	CCDS54240.1	19	.	.	.	.	.	.	.	.	.	.	a	7.719	0.696721	0.15106	.	.	ENSG00000160321	ENST00000397126;ENST00000428290	T	0.16897	2.31	2.56	-2.18	0.07037	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.17619	0.0423	.	.	.	0.09310	N	1	P	0.48911	0.917	P	0.48524	0.58	T	0.15838	-1.0423	8	0.62326	D	0.03	.	5.2974	0.15760	0.341:0.5485:0.0:0.1105	.	865	O43345	ZN208_HUMAN	G	993;865	ENSP00000380315:V993G	ENSP00000380315:V993G	V	-	2	0	ZNF208	21946698	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-1.075000	0.03423	-0.343000	0.08351	-1.224000	0.01588	GTA	-	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1		0.343	ZNF208-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF208	protein_coding	OTTHUMT00000464302.1	A	NM_007153		21946698	-1	no_start_codon	ENST00000340708	ensembl	human	known	54_36p	missense	SNP	0.186	C
Unknown	0	genome.wustl.edu	37	5	24171414	24171414	+	IGR	SNP	G	G	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr5:24171414G>T								Y_RNA (176702 upstream) : CTD-2074D8.1 (181003 downstream)																							CCTAGTTCAAGCTGACCAATG	0.453																																																0			5																																								24207171	SO:0001628	intergenic_variant	0																															5.37:g.24171414G>T			24207171		RNA	SNP	-	NULL		37	NULL		5																																																																																			-	-	0	0.453					LOC100130746			G			24207171	+1	pseudogene	XR_038810	genbank	human	model	54_36p	rna	SNP	0.273	T
TNRC6A	27327	genome.wustl.edu	37	16	24802935	24802935	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr16:24802935C>A	ENST00000395799.3	+	6	3101	c.2972C>A	c.(2971-2973)tCc>tAc	p.S991Y	TNRC6A_ENST00000315183.7_Missense_Mutation_p.S991Y	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	991	Sufficient for interaction with AGO1 and AGO4.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GAGGAACCATCCCCAGAATCT	0.493																																																0			16											51.0	52.0	51.0					16																	24802935		2197	4300	6497	24710436	SO:0001583	missense	27327			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.2972C>A	16.37:g.24802935C>A	ENSP00000379144:p.Ser991Tyr		24710436	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	PatternScan_TUBULIN_B_AUTOREG,HMMPfam_Ago_hook,superfamily_RNA-binding domain RBD	p.S991Y	ENST00000395799.3	37	c.2972	CCDS10624.2	16	.	.	.	.	.	.	.	.	.	.	C	25.4	4.629271	0.87560	.	.	ENSG00000090905	ENST00000315183;ENST00000395799	T;T	0.55234	0.53;0.57	5.44	5.44	0.79542	.	0.056990	0.64402	D	0.000001	T	0.75095	0.3803	M	0.77486	2.375	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.97110	1.0;0.998;0.996	T	0.77550	-0.2546	10	0.87932	D	0	-4.2834	19.6173	0.95639	0.0:1.0:0.0:0.0	.	738;991;991	Q8NDV7-2;Q8NDV7-6;Q8NDV7	.;.;TNR6A_HUMAN	Y	991	ENSP00000326900:S991Y;ENSP00000379144:S991Y	ENSP00000326900:S991Y	S	+	2	0	TNRC6A	24710436	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.398000	0.79919	2.700000	0.92200	0.655000	0.94253	TCC	-	NULL		0.493	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TNRC6A	protein_coding	OTTHUMT00000214081.1	C	NM_020847		24710436	+1	no_errors	NM_014494	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
PRKD1	5587	genome.wustl.edu	37	14	30068314	30068314	+	Silent	SNP	C	C	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr14:30068314C>T	ENST00000331968.5	-	15	2314	c.2085G>A	c.(2083-2085)cgG>cgA	p.R695R	PRKD1_ENST00000415220.2_Silent_p.R703R	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	695	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		AATGAAGGTGCCGCAAAGCCA	0.368																																																0			14											99.0	98.0	98.0					14																	30068314		2203	4300	6503	29138065	SO:0001819	synonymous_variant	5587				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2085G>A	14.37:g.30068314C>T			29138065	A6NL64|B2RAF6	Silent	SNP	superfamily_SSF57889,HMMSmart_C1,PatternScan_ZF_DAG_PE_1,HMMPfam_C1_1,superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST	p.R695	ENST00000331968.5	37	c.2085	CCDS9637.1	14																																																																																			-	superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase		0.368	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKD1	protein_coding	OTTHUMT00000276611.2	C	NM_002742		29138065	-1	no_errors	NM_002742	genbank	human	validated	54_36p	silent	SNP	0.700	T
TAB3	257397	genome.wustl.edu	37	X	30873557	30873557	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chrX:30873557G>T	ENST00000378933.1	-	3	402	c.225C>A	c.(223-225)aaC>aaA	p.N75K	TAB3_ENST00000378932.2_Missense_Mutation_p.N75K|TAB3_ENST00000378930.3_Missense_Mutation_p.N75K|TAB3_ENST00000288422.2_Missense_Mutation_p.N75K|TAB3_ENST00000378928.1_5'Flank|TAB3-AS2_ENST00000445240.1_RNA	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	75					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GGATACCCAGGTTAATATGTA	0.428																																					Pancreas(164;1598 1985 29022 43301 49529)											0			X											75.0	60.0	65.0					X																	30873557		2202	4300	6502	30783478	SO:0001583	missense	257397			AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.225C>A	X.37:g.30873557G>T	ENSP00000368215:p.Asn75Lys		30783478	A6NDD9|Q6VQR0	Missense_Mutation	SNP	HMMPfam_CUE,HMMSmart_SM00546,superfamily_NZF domain,HMMPfam_zf-RanBP,HMMSmart_SM00547,PatternScan_ZF_RANBP2_1	p.N75K	ENST00000378933.1	37	c.225	CCDS14226.1	X	.	.	.	.	.	.	.	.	.	.	G	14.52	2.558605	0.45590	.	.	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	5.44	2.57	0.30868	.	0.080255	0.85682	D	0.000000	T	0.78000	0.4215	L	0.52573	1.65	0.39983	D	0.974947	D;D	0.60575	0.988;0.979	P;P	0.53861	0.736;0.549	T	0.77011	-0.2746	10	0.87932	D	0	-3.7512	8.8452	0.35166	0.3661:0.0:0.6339:0.0	.	75;75	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	K	75	ENSP00000368215:N75K;ENSP00000368212:N75K;ENSP00000288422:N75K;ENSP00000368214:N75K	ENSP00000288422:N75K	N	-	3	2	TAB3	30783478	1.000000	0.71417	0.997000	0.53966	0.993000	0.82548	1.275000	0.33144	0.157000	0.19338	0.600000	0.82982	AAC	-	NULL		0.428	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K7IP3	protein_coding	OTTHUMT00000056173.1	G	NM_152787		30783478	-1	no_errors	NM_152787	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
KPNA6	23633	genome.wustl.edu	37	1	32627966	32627966	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr1:32627966C>T	ENST00000373625.3	+	9	845	c.752C>T	c.(751-753)tCt>tTt	p.S251F	KPNA6_ENST00000537234.1_Missense_Mutation_p.S248F|KPNA6_ENST00000469790.1_3'UTR|KPNA6_ENST00000545542.1_Missense_Mutation_p.S256F	NM_012316.4	NP_036448.1	O60684	IMA7_HUMAN	karyopherin alpha 6 (importin alpha 7)	251					maternal process involved in female pregnancy (GO:0060135)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein transporter activity (GO:0008565)			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CCACAGGTCTCTCCTTGTTTG	0.522																																																0			1											193.0	184.0	187.0					1																	32627966		2203	4300	6503	32400553	SO:0001583	missense	23633			AF060543	CCDS352.1	1p35.1	2013-02-14			ENSG00000025800	ENSG00000025800		"""Importins"", ""Armadillo repeat containing"""	6399	protein-coding gene	gene with protein product		610563				10523667	Standard	NM_012316		Approved	IPOA7, KPNA7, MGC17918, FLJ11249	uc001bug.3	O60684	OTTHUMG00000004333	ENST00000373625.3:c.752C>T	1.37:g.32627966C>T	ENSP00000362728:p.Ser251Phe		32400553	B2RDC7|D3DPP5|Q5VVU3	Missense_Mutation	SNP	HMMPfam_IBB,superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185	p.S251F	ENST00000373625.3	37	c.752	CCDS352.1	1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.172343	0.78452	.	.	ENSG00000025800	ENST00000373625;ENST00000373617;ENST00000537234;ENST00000545542;ENST00000446515	T;T;T;T	0.71461	-0.57;-0.57;-0.57;-0.57	5.34	5.34	0.76211	Armadillo-like helical (1);Armadillo-type fold (1);	0.097222	0.64402	D	0.000001	D	0.85600	0.5734	M	0.85197	2.74	0.80722	D	1	D;D;P	0.60575	0.985;0.988;0.83	D;D;B	0.65010	0.923;0.931;0.346	D	0.87358	0.2342	10	0.72032	D	0.01	-11.1469	19.4383	0.94807	0.0:1.0:0.0:0.0	.	256;256;251	F5GYL8;B4DWX3;O60684	.;.;IMA7_HUMAN	F	251;181;248;256;158	ENSP00000362728:S251F;ENSP00000444930:S248F;ENSP00000440609:S256F;ENSP00000415677:S158F	ENSP00000362719:S181F	S	+	2	0	KPNA6	32400553	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.620000	0.61226	2.697000	0.92050	0.655000	0.94253	TCT	-	superfamily_ARM repeat,HMMPfam_Arm,HMMSmart_SM00185		0.522	KPNA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KPNA6	protein_coding	OTTHUMT00000012527.4	C	NM_012316		32400553	+1	no_errors	NM_012316	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
CEP250	11190	genome.wustl.edu	37	20	34089716	34089716	+	Silent	SNP	C	C	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr20:34089716C>T	ENST00000397527.1	+	29	4663	c.3943C>T	c.(3943-3945)Ctg>Ttg	p.L1315L	CEP250_ENST00000342580.4_Silent_p.L1259L	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1315	Gln/Glu-rich.				centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|protein localization (GO:0008104)|protein localization to organelle (GO:0033365)|regulation of centriole-centriole cohesion (GO:0030997)	centriole (GO:0005814)|centrosome (GO:0005813)|cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule organizing center (GO:0005815)|protein complex (GO:0043234)|spindle pole centrosome (GO:0031616)	protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			AGAATCTGAGCTGATGGAACT	0.493																																																0			20											81.0	78.0	79.0					20																	34089716		2203	4300	6503	33553130	SO:0001819	synonymous_variant	11190			AF022655	CCDS13255.1	20q11.22	2014-02-20	2006-01-11	2006-01-11	ENSG00000126001	ENSG00000126001			1859	protein-coding gene	gene with protein product		609689	"""centrosomal protein 2"""	CEP2		9506584, 9647649	Standard	NM_007186		Approved	C-NAP1	uc021wco.1	Q9BV73	OTTHUMG00000032343	ENST00000397527.1:c.3943C>T	20.37:g.34089716C>T			33553130	E1P5Q3|O14812|O60588|Q9H450	Silent	SNP	superfamily_Prefoldin	p.L1315	ENST00000397527.1	37	c.3943	CCDS13255.1	20																																																																																			-	superfamily_Prefoldin		0.493	CEP250-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP250	protein_coding	OTTHUMT00000078877.7	C	NM_007186		33553130	+1	no_errors	NM_007186	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
IFNAR2	3455	genome.wustl.edu	37	21	34635590	34635590	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr21:34635590G>A	ENST00000342136.4	+	9	1659	c.1333G>A	c.(1333-1335)Gcc>Acc	p.A445T	IL10RB-AS1_ENST00000411998.1_RNA|IFNAR2_ENST00000404220.3_3'UTR|IFNAR2_ENST00000342101.3_3'UTR|AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000382241.3_Missense_Mutation_p.A445T			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	445					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|type I interferon binding (GO:0019962)|type I interferon receptor activity (GO:0004905)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	CGACTTAGAAGCCCCTCTGAT	0.502																																																0			21											256.0	258.0	257.0					21																	34635590		2203	4300	6503	33557460	SO:0001583	missense	3455				CCDS13621.1, CCDS13622.1, CCDS74782.1	21q22.1	2010-08-17			ENSG00000159110	ENSG00000159110		"""Interferons"""	5433	protein-coding gene	gene with protein product		602376		IFNABR		8181059	Standard	NM_207585		Approved		uc002yrd.3	P48551	OTTHUMG00000065127	ENST00000342136.4:c.1333G>A	21.37:g.34635590G>A	ENSP00000343957:p.Ala445Thr		33557460	A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7	Missense_Mutation	SNP	superfamily_Fibronectin type III,HMMPfam_Interfer-bind	p.A445T	ENST00000342136.4	37	c.1333	CCDS13621.1	21	.	.	.	.	.	.	.	.	.	.	G	13.56	2.274667	0.40194	.	.	ENSG00000159110	ENST00000382241;ENST00000342136	T;T	0.28454	1.61;1.61	4.74	0.603	0.17541	.	2.316730	0.02284	N	0.069638	T	0.19765	0.0475	L	0.29908	0.895	0.09310	N	1	P	0.39480	0.675	B	0.31614	0.133	T	0.16867	-1.0388	10	0.62326	D	0.03	.	2.7234	0.05207	0.0923:0.1608:0.416:0.3309	.	445	P48551	INAR2_HUMAN	T	445	ENSP00000371676:A445T;ENSP00000343957:A445T	ENSP00000343957:A445T	A	+	1	0	IFNAR2	33557460	0.001000	0.12720	0.000000	0.03702	0.228000	0.25075	0.826000	0.27407	0.004000	0.14682	0.650000	0.86243	GCC	-	NULL		0.502	IFNAR2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFNAR2	protein_coding	OTTHUMT00000139825.1	G			33557460	+1	no_errors	NM_207585	genbank	human	reviewed	54_36p	missense	SNP	0.000	A
RUNX1	861	genome.wustl.edu	37	21	36164573	36164573	+	Silent	SNP	G	G	A			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr21:36164573G>A	ENST00000344691.4	-	6	2798	c.1221C>T	c.(1219-1221)aaC>aaT	p.N407N	RUNX1_ENST00000399240.1_Silent_p.N343N|RUNX1_ENST00000325074.5_Silent_p.N422N|RUNX1_ENST00000437180.1_Silent_p.N434N|RUNX1_ENST00000300305.3_Silent_p.N434N	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	407	Pro/Ser/Thr-rich.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						CGGTGGAGGCGTTGGTGCAGG	0.711			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	0			21											10.0	10.0	10.0					21																	36164573		2091	4099	6190	35086443	SO:0001819	synonymous_variant	861			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.1221C>T	21.37:g.36164573G>A			35086443	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Silent	SNP	HMMPfam_Runt,superfamily_p53-like transcription factors,HMMPfam_RunxI	p.N434	ENST00000344691.4	37	c.1302	CCDS42922.1	21																																																																																			-	HMMPfam_RunxI		0.711	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	protein_coding	OTTHUMT00000194230.1	G			35086443	-1	no_errors	NM_001754	genbank	human	reviewed	54_36p	silent	SNP	1.000	A
ARAP2	116984	genome.wustl.edu	37	4	36075397	36075397	+	Missense_Mutation	SNP	T	T	C			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr4:36075397T>C	ENST00000303965.4	-	32	5146	c.4657A>G	c.(4657-4659)Ata>Gta	p.I1553V		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1553					regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTTTTGGTTATTGAACGTTTT	0.398																																																0			4											151.0	140.0	144.0					4																	36075397		2203	4300	6503	35751792	SO:0001583	missense	116984			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.4657A>G	4.37:g.36075397T>C	ENSP00000302895:p.Ile1553Val		35751792	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	HMMSmart_SM00454,superfamily_SAM/Pointed domain,HMMPfam_SAM_1,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_Pyk2-associated protein beta ARF-GAP domain,HMMPfam_ArfGap,HMMSmart_SM00105,superfamily_GTPase activation domain GAP,HMMSmart_SM00324,HMMPfam_RhoGAP,HMMPfam_RA	p.I1553V	ENST00000303965.4	37	c.4657	CCDS3441.1	4	.	.	.	.	.	.	.	.	.	.	T	15.54	2.863049	0.51482	.	.	ENSG00000047365	ENST00000303965	T	0.28666	1.6	5.41	5.41	0.78517	.	0.205870	0.43110	D	0.000606	T	0.18635	0.0447	L	0.32530	0.975	0.27693	N	0.946069	B	0.31625	0.332	B	0.26416	0.069	T	0.18903	-1.0322	10	0.02654	T	1	.	11.8348	0.52316	0.0:0.0:0.0:1.0	.	1553	Q8WZ64	ARAP2_HUMAN	V	1553	ENSP00000302895:I1553V	ENSP00000302895:I1553V	I	-	1	0	ARAP2	35751792	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.858000	0.48356	2.051000	0.60960	0.482000	0.46254	ATA	-	NULL		0.398	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	protein_coding	OTTHUMT00000215074.2	T	NM_015230		35751792	-1	no_errors	NM_015230	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
FREM2	341640	genome.wustl.edu	37	13	39338457	39338457	+	Silent	SNP	G	G	A	rs139030731		TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr13:39338457G>A	ENST00000280481.7	+	3	5496	c.5280G>A	c.(5278-5280)acG>acA	p.T1760T		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1760	Calx-beta 1.				cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ACAAGTTAACGTACCAGAATT	0.328																																																0			13						G		1,4405	2.1+/-5.4	0,1,2202	83.0	85.0	85.0		5280	0.2	1.0	13	dbSNP_134	85	1,8597	1.2+/-3.3	0,1,4298	no	coding-synonymous	FREM2	NM_207361.4		0,2,6500	AA,AG,GG		0.0116,0.0227,0.0154		1760/3170	39338457	2,13002	2203	4299	6502	38236457	SO:0001819	synonymous_variant	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.5280G>A	13.37:g.39338457G>A			38236457	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Silent	SNP	HMMSmart_SM00237,HMMPfam_Calx-beta	p.T1760	ENST00000280481.7	37	c.5280	CCDS31960.1	13																																																																																			-	HMMSmart_SM00237		0.328	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	protein_coding	OTTHUMT00000044599.2	G	NM_207361		38236457	+1	no_errors	NM_207361	genbank	human	reviewed	54_36p	silent	SNP	0.965	A
BRCA1	672	genome.wustl.edu	37	17	41276113	41276113	+	Start_Codon_SNP	SNP	T	T	C	rs80357287		TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr17:41276113T>C	ENST00000357654.3	-	2	119	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000491747.2_Start_Codon_SNP_p.M1V|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000493795.1_5'UTR|BRCA1_ENST00000471181.2_Start_Codon_SNP_p.M1V|BRCA1_ENST00000354071.3_Start_Codon_SNP_p.M1V|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000346315.3_Start_Codon_SNP_p.M1V|BRCA1_ENST00000351666.3_Start_Codon_SNP_p.M1V|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000352993.3_Start_Codon_SNP_p.M1V|BRCA1_ENST00000468300.1_Start_Codon_SNP_p.M1V|NBR2_ENST00000460115.1_RNA	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GATAAATCCATTTCTTTCTGT	0.289			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																												yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0			17	GRCh37	CM021503	BRCA1	M	rs80357287						93.0	80.0	85.0					17																	41276113		2202	4299	6501	38529639	SO:0001582	initiator_codon_variant	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.1A>G	17.37:g.41276113T>C	ENSP00000350283:p.Met1Val		38529639	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4,PatternScan_ZF_RING_1,HMMPfam_BRCT,HMMSmart_SM00292,superfamily_BRCT domain	p.M1V	ENST00000357654.3	37	c.1	CCDS11453.1	17	.	.	.	.	.	.	.	.	.	.	T	12.19	1.862518	0.32884	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000352993;ENST00000346315;ENST00000351666;ENST00000468300;ENST00000471181;ENST00000491747;ENST00000478531;ENST00000470026;ENST00000477152;ENST00000494123;ENST00000476777;ENST00000489037	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83;-1.83	3.83	3.83	0.44106	.	0.000000	0.53938	D	0.000057	D	0.90205	0.6938	.	.	.	0.80722	D	1	B;D;D;B;P;D;P	0.63880	0.323;0.993;0.993;0.452;0.956;0.993;0.924	B;D;D;P;P;D;P	0.65443	0.354;0.935;0.935;0.557;0.899;0.935;0.878	D	0.90483	0.4461	9	0.87932	D	0	-10.0057	8.9255	0.35637	0.0:0.0:0.0:1.0	.	1;1;1;1;1;1;1	E7ETR2;E7EMP0;Q5YLB2;P38398-3;Q6IN79;E9PFC7;P38398	.;.;.;.;.;.;BRCA1_HUMAN	V	1	ENSP00000350283:M1V;ENSP00000326002:M1V;ENSP00000312236:M1V;ENSP00000246907:M1V;ENSP00000338007:M1V;ENSP00000417148:M1V;ENSP00000418960:M1V;ENSP00000420705:M1V;ENSP00000420412:M1V;ENSP00000419274:M1V;ENSP00000419988:M1V;ENSP00000419103:M1V;ENSP00000417554:M1V;ENSP00000420781:M1V	ENSP00000246907:M1V	M	-	1	0	BRCA1	38529639	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	3.701000	0.54793	1.616000	0.50265	0.334000	0.21626	ATG	-	superfamily_RING/U-box		0.289	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA1	protein_coding	OTTHUMT00000348798.2	T	NM_007294	Missense_Mutation	38529639	-1	no_errors	NM_007294	genbank	human	reviewed	54_36p	missense	SNP	0.980	C
DNAH8	1769	genome.wustl.edu	37	6	38791347	38791347	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr6:38791347G>C	ENST00000359357.3	+	26	3333	c.3079G>C	c.(3079-3081)Gct>Cct	p.A1027P	SNORA8_ENST00000391284.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.A1244P|DNAH8_ENST00000441566.1_Missense_Mutation_p.A1027P			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1027					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGAATTTTTGGCTAACAACCC	0.318																																																0			6											80.0	82.0	81.0					6																	38791347		2202	4299	6501	38899325	SO:0001583	missense	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.3079G>C	6.37:g.38791347G>C	ENSP00000352312:p.Ala1027Pro		38899325	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	HMMPfam_DHC_N1,HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,PatternScan_THIOL_PROTEASE_HIS,HMMPfam_AAA_5,HMMPfam_Dynein_heavy	p.A1027P	ENST00000359357.3	37	c.3079		6	.	.	.	.	.	.	.	.	.	.	G	10.77	1.442921	0.25987	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.26223	1.79;1.78;1.75	5.82	4.95	0.65309	.	0.257150	0.38217	N	0.001767	T	0.17408	0.0418	M	0.66939	2.045	0.39563	D	0.969158	P	0.40794	0.729	B	0.38880	0.284	T	0.02378	-1.1168	10	0.39692	T	0.17	.	14.695	0.69115	0.0:0.0:0.8548:0.1452	.	1027	Q96JB1	DYH8_HUMAN	P	1232;1232;1027;1027	ENSP00000333363:A1232P;ENSP00000352312:A1027P;ENSP00000402294:A1027P	ENSP00000333363:A1232P	A	+	1	0	DNAH8	38899325	1.000000	0.71417	1.000000	0.80357	0.149000	0.21700	4.564000	0.60830	1.454000	0.47793	0.563000	0.77884	GCT	-	NULL		0.318	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	protein_coding	OTTHUMT00000043574.1	G	NM_001206927		38899325	+1	no_errors	NM_001371	genbank	human	validated	54_36p	missense	SNP	1.000	C
Unknown	0	genome.wustl.edu	37	1	39175762	39175762	+	IGR	SNP	G	G	A			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr1:39175762G>A								RP11-329N22.1 (233606 upstream) : RRAGC (128107 downstream)																							ACTATCCCGCGGCATAAGCCC	0.453																																																0			1																																								38948349	SO:0001628	intergenic_variant	0																															1.37:g.39175762G>A			38948349		RNA	SNP	-	NULL		37	NULL		1																																																																																			-	-	0	0.453					LOC400750			G			38948349	+1	pseudogene	XR_039444	genbank	human	model	54_36p	rna	SNP	0.997	A
MED14	9282	genome.wustl.edu	37	X	40540156	40540156	+	Missense_Mutation	SNP	T	T	C			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chrX:40540156T>C	ENST00000324817.1	-	20	2582	c.2464A>G	c.(2464-2466)Atc>Gtc	p.I822V	MED14_ENST00000496531.2_5'UTR	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	822	Interaction with SREBF1.				androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCCATTGGATACTAATCTAA	0.343																																																0			X											62.0	54.0	57.0					X																	40540156		2203	4300	6503	40425100	SO:0001583	missense	9282			AB006651	CCDS14254.1	Xp11.4	2008-05-14	2007-07-30	2007-07-30	ENSG00000180182	ENSG00000180182			2370	protein-coding gene	gene with protein product		300182	"""cofactor required for Sp1 transcriptional activation, subunit 2, 150kDa"""	CXorf4, CRSP2		9989412, 9598311	Standard	NM_004229		Approved	EXLM1, CRSP150, TRAP170, RGR1, CSRP	uc004dex.4	O60244	OTTHUMG00000024107	ENST00000324817.1:c.2464A>G	X.37:g.40540156T>C	ENSP00000323720:p.Ile822Val		40425100	Q4KMR7|Q9UNB3	Missense_Mutation	SNP	HMMPfam_MED14	p.I822V	ENST00000324817.1	37	c.2464	CCDS14254.1	X	.	.	.	.	.	.	.	.	.	.	T	13.22	2.171498	0.38315	.	.	ENSG00000180182	ENST00000324817	.	.	.	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.59280	0.2182	L	0.35793	1.09	0.80722	D	1	P	0.40970	0.734	P	0.50825	0.651	T	0.53795	-0.8388	9	0.19147	T	0.46	.	15.4564	0.75318	0.0:0.0:0.0:1.0	.	822	O60244	MED14_HUMAN	V	822	.	ENSP00000323720:I822V	I	-	1	0	MED14	40425100	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	5.751000	0.68720	2.034000	0.60081	0.486000	0.48141	ATC	-	NULL		0.343	MED14-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MED14	protein_coding	OTTHUMT00000060692.1	T	NM_004229		40425100	-1	no_errors	NM_004229	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
DMKN	93099	genome.wustl.edu	37	19	36004015	36004015	+	Missense_Mutation	SNP	A	A	C			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr19:36004015A>C	ENST00000339686.3	-	1	539	c.363T>G	c.(361-363)atT>atG	p.I121M	DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000419602.1_Missense_Mutation_p.I121M|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000418261.1_Missense_Mutation_p.I121M|DMKN_ENST00000424570.2_Missense_Mutation_p.I121M|DMKN_ENST00000402589.2_5'Flank|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000429837.1_Missense_Mutation_p.I121M|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000451297.2_Missense_Mutation_p.I121M|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000447113.2_Missense_Mutation_p.I121M|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000440396.1_Missense_Mutation_p.I121M|DMKN_ENST00000602781.1_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	121	Gly-rich.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CTCCGTGTCGAATGACATCTT	0.612																																																0			19											114.0	103.0	107.0					19																	36004015		2203	4300	6503	40695855	SO:0001583	missense	93099			BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.363T>G	19.37:g.36004015A>C	ENSP00000342012:p.Ile121Met		40695855	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	NULL	p.I121M	ENST00000339686.3	37	c.363	CCDS12463.1	19	.	.	.	.	.	.	.	.	.	.	A	10.64	1.406777	0.25378	.	.	ENSG00000161249	ENST00000339686;ENST00000392207;ENST00000429837;ENST00000419602;ENST00000447113;ENST00000440396;ENST00000418261;ENST00000424570;ENST00000451297	T;T;T;T;T;T;T;T	0.33865	1.98;1.78;1.76;1.39;1.43;1.45;1.45;1.48	4.08	-0.116	0.13555	.	0.441651	0.16776	N	0.200006	T	0.46268	0.1384	L	0.48642	1.525	0.09310	N	1	P;D;D;P;P;P;P	0.60575	0.9;0.988;0.988;0.9;0.835;0.835;0.835	P;D;D;P;P;P;P	0.72338	0.568;0.977;0.977;0.568;0.466;0.466;0.466	T	0.29882	-0.9997	10	0.87932	D	0	-5.9913	7.8386	0.29384	0.5271:0.0:0.4729:0.0	.	121;121;121;121;121;121;121	E7EUS0;Q6E0U4-7;Q6E0U4-3;Q6E0U4-5;C9J4P6;Q6E0U4-4;Q6E0U4	.;.;.;.;.;.;DMKN_HUMAN	M	121	ENSP00000342012:I121M;ENSP00000405503:I121M;ENSP00000391036:I121M;ENSP00000394908:I121M;ENSP00000415277:I121M;ENSP00000414743:I121M;ENSP00000388404:I121M;ENSP00000409513:I121M	ENSP00000342012:I121M	I	-	3	3	DMKN	40695855	0.003000	0.15002	0.001000	0.08648	0.003000	0.03518	0.554000	0.23407	-0.034000	0.13713	0.402000	0.26972	ATT	-	NULL		0.612	DMKN-001	KNOWN	basic|CCDS	protein_coding	DMKN	protein_coding	OTTHUMT00000109461.2	A	NM_033317		40695855	-1	no_errors	NM_033317	genbank	human	reviewed	54_36p	missense	SNP	0.002	C
FRMD5	84978	genome.wustl.edu	37	15	44168225	44168225	+	Intron	SNP	T	T	A			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr15:44168225T>A	ENST00000417257.1	-	14	1312				FRMD5_ENST00000402883.1_Intron|FRMD5_ENST00000484674.1_Intron	NM_032892.3	NP_116281.2	Q7Z6J6	FRMD5_HUMAN	FERM domain containing 5							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		GGCTTTATCTTCACTATATTG	0.458																																																0			15																																								41955517	SO:0001627	intron_variant	728758			BC007796	CCDS10107.2, CCDS73715.1, CCDS73716.1	15q15.3	2005-08-09			ENSG00000171877	ENSG00000171877			28214	protein-coding gene	gene with protein product							Standard	XM_005254729		Approved	MGC14161	uc001ztl.3	Q7Z6J6	OTTHUMG00000060475	ENST00000417257.1:c.1136-1565A>T	15.37:g.44168225T>A			41955517	Q8NBG4	RNA	SNP	-	NULL	ENST00000417257.1	37	NULL	CCDS10107.2	15																																																																																			-	-		0.458	FRMD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC728758	protein_coding	OTTHUMT00000133879.1	T	NM_032892		41955517	-1	pseudogene	NR_003571	genbank	human	provisional	54_36p	rna	SNP	1.000	A
SHCBP1	79801	genome.wustl.edu	37	16	46629506	46629506	+	Silent	SNP	T	T	A			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr16:46629506T>A	ENST00000303383.3	-	10	1688	c.1422A>T	c.(1420-1422)tcA>tcT	p.S474S		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	474					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)					breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				GAAACTCTGCTGATGTCCGCA	0.448																																																0			16											104.0	93.0	97.0					16																	46629506		2203	4300	6503	45187007	SO:0001819	synonymous_variant	79801			AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.1422A>T	16.37:g.46629506T>A			45187007	Q96N60|Q9BVS0|Q9H6P6	Silent	SNP	superfamily_Pectin lyase-like,HMMSmart_SM00710	p.S474	ENST00000303383.3	37	c.1422	CCDS10720.1	16																																																																																			-	superfamily_Pectin lyase-like,HMMSmart_SM00710		0.448	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHCBP1	protein_coding	OTTHUMT00000255740.1	T	NM_024745		45187007	-1	no_errors	NM_024745	genbank	human	validated	54_36p	silent	SNP	0.976	A
C21orf58	54058	genome.wustl.edu	37	21	47722406	47722406	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr21:47722406G>T	ENST00000291691.7	-	7	1942	c.806C>A	c.(805-807)gCc>gAc	p.A269D	C21orf58_ENST00000472607.1_5'UTR|C21orf58_ENST00000397680.1_Missense_Mutation_p.A163D|C21orf58_ENST00000397682.3_Missense_Mutation_p.A163D|C21orf58_ENST00000397679.1_Missense_Mutation_p.A163D|C21orf58_ENST00000397683.1_Missense_Mutation_p.A163D	NM_058180.3	NP_478060.2	P58505	CU058_HUMAN	chromosome 21 open reading frame 58	269										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		TACCTGCAGGGCTGGGGGCAG	0.572																																																0			21											27.0	24.0	25.0					21																	47722406		2203	4298	6501	46546834	SO:0001583	missense	54058				CCDS13735.1, CCDS68229.1	21q22.3	2008-07-07			ENSG00000160298	ENSG00000160298			1300	protein-coding gene	gene with protein product							Standard	XM_005261149		Approved		uc002zjf.3	P58505	OTTHUMG00000090634	ENST00000291691.7:c.806C>A	21.37:g.47722406G>T	ENSP00000291691:p.Ala269Asp		46546834	B3KPI1	Missense_Mutation	SNP	NULL	p.A269D	ENST00000291691.7	37	c.806	CCDS13735.1	21	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861937	0.51482	.	.	ENSG00000160298	ENST00000397683;ENST00000417060;ENST00000397682;ENST00000291691;ENST00000397679;ENST00000397680	T;T;T;T;T;T	0.48201	0.83;0.83;0.83;0.82;0.83;0.83	3.95	1.08	0.20341	.	0.921434	0.09024	N	0.859816	T	0.47857	0.1468	L	0.50333	1.59	0.09310	N	1	D;D;P	0.53745	0.962;0.962;0.899	P;P;B	0.52481	0.7;0.7;0.39	T	0.31861	-0.9928	10	0.40728	T	0.16	-2.8963	3.7141	0.08431	0.3123:0.1867:0.5011:0.0	.	269;163;269	P58505;Q8N7N9;P58505-2	CU058_HUMAN;.;.	D	163;231;163;269;163;163	ENSP00000380799:A163D;ENSP00000402356:A231D;ENSP00000380798:A163D;ENSP00000291691:A269D;ENSP00000380796:A163D;ENSP00000380797:A163D	ENSP00000291691:A269D	A	-	2	0	C21orf58	46546834	0.003000	0.15002	0.004000	0.12327	0.243000	0.25628	1.010000	0.29898	0.229000	0.21039	0.462000	0.41574	GCC	-	NULL		0.572	C21orf58-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C21orf58	protein_coding	OTTHUMT00000207283.1	G	NM_058180		46546834	-1	no_errors	NM_058180	genbank	human	validated	54_36p	missense	SNP	0.001	T
GABRA4	2557	genome.wustl.edu	37	4	46994890	46994890	+	Missense_Mutation	SNP	T	T	A			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr4:46994890T>A	ENST00000264318.3	-	2	1142	c.160A>T	c.(160-162)Agt>Tgt	p.S54C	GABRA4_ENST00000509316.1_5'UTR	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	54					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TCGAGCAAACTGTCCAGGATG	0.478																																					Ovarian(6;283 369 8234 12290 33402)											0			4											148.0	136.0	140.0					4																	46994890		2203	4300	6503	46689647	SO:0001583	missense	2557				CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.160A>T	4.37:g.46994890T>A	ENSP00000264318:p.Ser54Cys		46689647	Q8IYR7	Missense_Mutation	SNP	superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb	p.S54C	ENST00000264318.3	37	c.160	CCDS3473.1	4	.	.	.	.	.	.	.	.	.	.	T	11.53	1.665741	0.29604	.	.	ENSG00000109158	ENST00000264318	T	0.79940	-1.32	5.46	3.04	0.35103	Neurotransmitter-gated ion-channel ligand-binding (3);	0.221139	0.47852	D	0.000214	D	0.82733	0.5101	M	0.67700	2.07	0.34365	D	0.691362	D	0.54207	0.965	P	0.54544	0.755	D	0.85183	0.1005	10	0.87932	D	0	.	6.926	0.24416	0.0:0.1832:0.0:0.8168	.	54	P48169	GBRA4_HUMAN	C	54	ENSP00000264318:S54C	ENSP00000264318:S54C	S	-	1	0	GABRA4	46689647	0.999000	0.42202	1.000000	0.80357	0.966000	0.64601	0.379000	0.20585	0.385000	0.24970	0.377000	0.23210	AGT	-	superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD		0.478	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA4	protein_coding	OTTHUMT00000216893.1	T			46689647	-1	no_errors	NM_000809	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
COL7A1	1294	genome.wustl.edu	37	3	48624491	48624491	+	Missense_Mutation	SNP	C	C	G			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr3:48624491C>G	ENST00000328333.8	-	24	3297	c.3190G>C	c.(3190-3192)Gac>Cac	p.D1064H	COL7A1_ENST00000454817.1_Missense_Mutation_p.D1064H	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1064	Nonhelical region (NC1).|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGAGCATTGTCTTGAGTGGCA	0.622																																																0			3											75.0	63.0	67.0					3																	48624491		2202	4300	6502	48599495	SO:0001583	missense	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.3190G>C	3.37:g.48624491C>G	ENSP00000332371:p.Asp1064His		48599495	Q14054|Q16507	Missense_Mutation	SNP	superfamily_vWA-like,HMMSmart_SM00327,HMMPfam_VWA,HMMSmart_SM00060,HMMPfam_fn3,superfamily_Fibronectin type III,HMMPfam_Collagen,superfamily_BPTI-like,HMMPfam_Kunitz_BPTI,PatternScan_BPTI_KUNITZ_1	p.D1064H	ENST00000328333.8	37	c.3190	CCDS2773.1	3	.	.	.	.	.	.	.	.	.	.	C	11.71	1.719470	0.30503	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	T;T	0.78246	-1.16;-1.16	5.91	5.91	0.95273	von Willebrand factor, type A (1);	0.000000	0.47455	D	0.000228	D	0.82972	0.5153	L	0.29908	0.895	0.45777	D	0.998661	D	0.89917	1.0	D	0.81914	0.995	D	0.84197	0.0448	10	0.72032	D	0.01	.	18.4788	0.90804	0.0:1.0:0.0:0.0	.	1064	Q02388	CO7A1_HUMAN	H	1064	ENSP00000332371:D1064H;ENSP00000412569:D1064H	ENSP00000332371:D1064H	D	-	1	0	COL7A1	48599495	0.974000	0.33945	0.981000	0.43875	0.491000	0.33493	2.698000	0.47068	2.802000	0.96397	0.655000	0.94253	GAC	-	superfamily_vWA-like,HMMPfam_VWA		0.622	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	protein_coding	OTTHUMT00000257519.1	C	NM_000094		48599495	-1	no_errors	NM_000094	genbank	human	reviewed	54_36p	missense	SNP	0.991	G
CXorf67	340602	genome.wustl.edu	37	X	51151131	51151131	+	Silent	SNP	C	C	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chrX:51151131C>T	ENST00000342995.2	+	1	1365	c.1263C>T	c.(1261-1263)atC>atT	p.I421I				Q86X51	CX067_HUMAN	chromosome X open reading frame 67	421	Ser-rich.									breast(1)|endometrium(4)|large_intestine(1)|lung(11)|ovary(3)|prostate(1)	21						TCCTTCCCATCCCTCAGCAGT	0.617																																																0			X											97.0	69.0	79.0					X																	51151131		2203	4300	6503	51167871	SO:0001819	synonymous_variant	340602			BC046248		Xp11.22	2014-04-30			ENSG00000187690	ENSG00000187690			33738	protein-coding gene	gene with protein product						23959973	Standard	XR_113306		Approved			Q86X51	OTTHUMG00000187481	ENST00000342995.2:c.1263C>T	X.37:g.51151131C>T			51167871		Silent	SNP	NULL	p.I421	ENST00000342995.2	37	c.1263		X																																																																																			-	NULL		0.617	CXorf67-201	KNOWN	basic|appris_principal	protein_coding	LOC340602	protein_coding		C	NM_203407		51167871	+1	no_errors	NM_203407	genbank	human	predicted	54_36p	silent	SNP	0.003	T
HNRNPA1	3178	genome.wustl.edu	37	12	54676365	54676365	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr12:54676365G>T	ENST00000340913.6	+	6	645	c.592G>T	c.(592-594)Ggt>Tgt	p.G198C	CBX5_ENST00000209875.4_5'Flank|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.G198C|HNRNPA1_ENST00000546500.1_Missense_Mutation_p.G198C|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.G198C|RP11-968A15.8_ENST00000553061.1_RNA	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	198	Gly-rich.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						AGGTCGAAGTGGTTCTGGAAA	0.413																																					Colon(83;502 1289 8436 16406 24870)											0			12											90.0	90.0	90.0					12																	54676365		2203	4300	6503	52962632	SO:0001583	missense	3178			BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"""RNA binding motif (RRM) containing"""	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.592G>T	12.37:g.54676365G>T	ENSP00000341826:p.Gly198Cys		52962632	A8K4Z8|Q3MIB7|Q6PJZ7	Missense_Mutation	SNP	superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1	p.G198C	ENST00000340913.6	37	c.592	CCDS44909.1	12	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035231	0.54896	.	.	ENSG00000135486	ENST00000546500;ENST00000547617;ENST00000552494;ENST00000340913;ENST00000330752;ENST00000552591;ENST00000551133;ENST00000547276;ENST00000548688;ENST00000550482	D;D;D;D;D;D	0.89746	-2.56;-2.56;-2.56;-2.56;-2.56;-2.56	3.1	3.1	0.35709	.	0.000000	0.47852	D	0.000215	D	0.88325	0.6406	M	0.82630	2.6	0.38209	D	0.940428	D;D;D;D;B;D;D	0.58620	0.983;0.972;0.972;0.972;0.011;0.972;0.983	B;B;B;B;B;B;B	0.40825	0.184;0.341;0.341;0.341;0.015;0.341;0.284	D	0.91522	0.5235	10	0.87932	D	0	.	12.4584	0.55718	0.0:0.0:1.0:0.0	.	176;198;198;198;198;198;198	Q9BSM5;F8VRQ1;F8W6I7;F8VSB5;P09651-3;P09651-2;P09651	.;.;.;.;.;.;ROA1_HUMAN	C	198;198;198;198;198;198;198;198;217;69	ENSP00000448617:G198C;ENSP00000341826:G198C;ENSP00000333504:G198C;ENSP00000447260:G198C;ENSP00000447782:G217C;ENSP00000446486:G69C	ENSP00000333504:G198C	G	+	1	0	HNRNPA1	52962632	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	2.796000	0.47869	2.053000	0.61076	0.289000	0.19496	GGT	-	superfamily_RNA-binding domain RBD		0.413	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	HNRNPA1	protein_coding	OTTHUMT00000405480.1	G	NM_031157		52962632	+1	no_errors	NM_031157	genbank	human	reviewed	54_36p	missense	SNP	0.998	T
TMEM59	9528	genome.wustl.edu	37	1	54509155	54509155	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr1:54509155G>A	ENST00000234831.5	-	4	683	c.434C>T	c.(433-435)aCt>aTt	p.T145I	TMEM59_ENST00000371344.1_Missense_Mutation_p.T14I|TMEM59_ENST00000371348.1_Missense_Mutation_p.T14I|TMEM59_ENST00000371341.1_Missense_Mutation_p.T14I	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN	transmembrane protein 59	145					autophagy (GO:0006914)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of protein glycosylation in Golgi (GO:0090285)|negative regulation of protein processing (GO:0010955)|positive regulation of autophagy (GO:0010508)	extracellular vesicular exosome (GO:0070062)|Golgi cis cisterna (GO:0000137)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						CCTCACCAGAGTTAGAGGAAA	0.343																																																0			1											63.0	65.0	64.0					1																	54509155		2203	4300	6503	54281743	SO:0001583	missense	9528			AF047439	CCDS586.1	1p32.3	2008-05-14	2005-07-22	2005-07-22	ENSG00000116209	ENSG00000116209			1239	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 8"""	C1orf8		9653160	Standard	NM_004872		Approved	HSPC001	uc001cwp.3	Q9BXS4	OTTHUMG00000008437	ENST00000234831.5:c.434C>T	1.37:g.54509155G>A	ENSP00000234831:p.Thr145Ile		54281743	B3KQL7|O75393|Q4VBP9|Q5T705|Q96KX7	Missense_Mutation	SNP	NULL	p.T145I	ENST00000234831.5	37	c.434	CCDS586.1	1	.	.	.	.	.	.	.	.	.	.	G	16.79	3.219564	0.58560	.	.	ENSG00000116209	ENST00000371348;ENST00000371344;ENST00000234831;ENST00000371341;ENST00000371338;ENST00000420738;ENST00000440019;ENST00000452421	T;T	0.46819	0.86;0.86	5.64	5.64	0.86602	.	0.046450	0.85682	D	0.000000	T	0.66858	0.2832	M	0.65975	2.015	0.80722	D	1	B;B;D;B	0.69078	0.276;0.276;0.997;0.433	B;B;D;B	0.64321	0.1;0.1;0.924;0.175	T	0.63391	-0.6648	10	0.44086	T	0.13	-1.3707	19.8946	0.96949	0.0:0.0:1.0:0.0	.	156;156;145;145	E9PGZ9;Q5T704;D3DQ48;Q9BXS4	.;.;.;TMM59_HUMAN	I	14;14;145;14;156;14;14;156	ENSP00000234831:T145I;ENSP00000397772:T156I	ENSP00000234831:T145I	T	-	2	0	TMEM59	54281743	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.620000	0.83070	2.937000	0.99478	0.650000	0.86243	ACT	-	NULL		0.343	TMEM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM59	protein_coding	OTTHUMT00000023254.2	G	NM_004872		54281743	-1	no_errors	NM_004872	genbank	human	provisional	54_36p	missense	SNP	1.000	A
HCRTR2	3062	genome.wustl.edu	37	6	55119999	55119999	+	Silent	SNP	C	C	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr6:55119999C>T	ENST00000370862.3	+	3	804	c.468C>T	c.(466-468)atC>atT	p.I156I		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	156					circadian sleep/wake cycle process (GO:0022410)|feeding behavior (GO:0007631)|neuropeptide signaling pathway (GO:0007218)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neuropeptide receptor activity (GO:0008188)|orexin receptor activity (GO:0016499)			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGTATGCAATCTGTCACCCTT	0.468																																																0			6											157.0	132.0	140.0					6																	55119999		2203	4300	6503	55227958	SO:0001819	synonymous_variant	3062			AF041245	CCDS4956.1	6p12.1	2012-09-20			ENSG00000137252	ENSG00000137252		"""GPCR / Class A : Hypocretin (orexin) receptors"""	4849	protein-coding gene	gene with protein product		602393				9491897	Standard	NM_001526		Approved	OX2R	uc003pcl.3	O43614	OTTHUMG00000016150	ENST00000370862.3:c.468C>T	6.37:g.55119999C>T			55227958	Q5VTM0	Silent	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1,HMMPfam_Orexin_rec2	p.I156	ENST00000370862.3	37	c.468	CCDS4956.1	6																																																																																			-	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1		0.468	HCRTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCRTR2	protein_coding	OTTHUMT00000043392.1	C			55227958	+1	no_errors	NM_001526	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
PHACTR3	116154	genome.wustl.edu	37	20	58330315	58330315	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr20:58330315C>T	ENST00000371015.1	+	4	904	c.437C>T	c.(436-438)aCg>aTg	p.T146M	PHACTR3_ENST00000395639.4_Missense_Mutation_p.T105M|PHACTR3_ENST00000541461.1_Missense_Mutation_p.T105M|PHACTR3_ENST00000361300.4_Missense_Mutation_p.T105M|PHACTR3_ENST00000355648.4_Missense_Mutation_p.T105M|PHACTR3_ENST00000395636.2_Missense_Mutation_p.T105M|PHACTR3_ENST00000359926.3_Missense_Mutation_p.T143M	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	146						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AAGTCGGAGACGCTGACTTCA	0.572																																																0			20											59.0	54.0	55.0					20																	58330315		2203	4300	6503	57763710	SO:0001583	missense	116154			AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.437C>T	20.37:g.58330315C>T	ENSP00000360054:p.Thr146Met		57763710	B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	HMMSmart_SM00707,HMMPfam_RPEL	p.T146M	ENST00000371015.1	37	c.437	CCDS13480.1	20	.	.	.	.	.	.	.	.	.	.	C	4.076	0.011945	0.07912	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.30714	1.92;1.93;1.52;1.93;1.93;1.93;1.52	3.46	0.245	0.15512	.	1.496170	0.03843	N	0.270892	T	0.21267	0.0512	N	0.22421	0.69	0.09310	N	1	P;P;P	0.51791	0.948;0.661;0.832	B;B;B	0.40009	0.316;0.072;0.176	T	0.29852	-0.9998	10	0.31617	T	0.26	0.8975	8.7325	0.34507	0.0:0.7653:0.0:0.2347	.	105;146;143	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	M	143;146;105;105;105;105;105	ENSP00000353002:T143M;ENSP00000360054:T146M;ENSP00000379001:T105M;ENSP00000442483:T105M;ENSP00000347866:T105M;ENSP00000378998:T105M;ENSP00000354555:T105M	ENSP00000347866:T105M	T	+	2	0	PHACTR3	57763710	0.007000	0.16637	0.000000	0.03702	0.000000	0.00434	0.346000	0.19997	-0.045000	0.13468	-1.287000	0.01368	ACG	-	NULL		0.572	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHACTR3	protein_coding	OTTHUMT00000079923.3	C	NM_080672		57763710	+1	no_errors	NM_080672	genbank	human	reviewed	54_36p	missense	SNP	0.004	T
TRMT112P3	729667	genome.wustl.edu	37	17	61028259	61028259	+	lincRNA	SNP	C	C	A			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr17:61028259C>A	ENST00000582505.1	-	0	354																											GAACATACATCCAGACTCTGG	0.517																																																0			17																																								58381991			729667																															17.37:g.61028259C>A			58381991		RNA	SNP	-	NULL	ENST00000582505.1	37	NULL		17																																																																																			-	-		0.517	RP11-180P8.1-001	KNOWN	basic	lincRNA	LOC729667	lincRNA	OTTHUMT00000444762.1	C			58381991	-1	pseudogene	XR_016012	genbank	human	model	54_36p	rna	SNP	0.011	A
MS4A5	64232	genome.wustl.edu	37	11	60201361	60201361	+	Missense_Mutation	SNP	C	C	A	rs142678653		TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr11:60201361C>A	ENST00000300190.2	+	4	549	c.463C>A	c.(463-465)Cag>Aag	p.Q155K		NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	155						integral component of membrane (GO:0016021)				large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						CCAAAATAGTCAGTGTAAGGC	0.368																																																0			11						C	LYS/GLN	0,4406		0,0,2203	203.0	193.0	196.0		463	0.8	0.0	11	dbSNP_134	196	1,8599	1.2+/-3.3	0,1,4299	no	missense	MS4A5	NM_023945.2	53	0,1,6502	AA,AC,CC		0.0116,0.0,0.0077	benign	155/201	60201361	1,13005	2203	4300	6503	59957937	SO:0001583	missense	64232			AB013103	CCDS7987.1	11q12	2008-03-25			ENSG00000166930	ENSG00000166930			13374	protein-coding gene	gene with protein product		606499				11245982, 11401424	Standard	NM_023945		Approved	CD20L2	uc001npo.3	Q9H3V2	OTTHUMG00000167613	ENST00000300190.2:c.463C>A	11.37:g.60201361C>A	ENSP00000300190:p.Gln155Lys		59957937	Q9BZH1	Missense_Mutation	SNP	HMMPfam_CD20	p.Q155K	ENST00000300190.2	37	c.463	CCDS7987.1	11	.	.	.	.	.	.	.	.	.	.	C	0.439	-0.899369	0.02472	0.0	1.16E-4	ENSG00000166930	ENST00000300190	T	0.02197	4.4	3.99	0.843	0.18935	.	1.788210	0.02869	N	0.131265	T	0.04588	0.0125	M	0.63428	1.95	0.09310	N	1	B	0.25441	0.126	B	0.26094	0.066	T	0.53753	-0.8394	10	0.20046	T	0.44	5.9004	11.9447	0.52922	0.0:0.4185:0.5815:0.0	.	155	Q9H3V2	MS4A5_HUMAN	K	155	ENSP00000300190:Q155K	ENSP00000300190:Q155K	Q	+	1	0	MS4A5	59957937	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	0.226000	0.17776	0.077000	0.16863	0.655000	0.94253	CAG	-	HMMPfam_CD20		0.368	MS4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A5	protein_coding	OTTHUMT00000395392.1	C			59957937	+1	no_errors	NM_023945	genbank	human	reviewed	54_36p	missense	SNP	0.000	A
ZNF444	55311	genome.wustl.edu	37	19	56662105	56662105	+	Intron	SNP	C	C	T	rs144895745	byFrequency	TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr19:56662105C>T	ENST00000337080.3	+	3	664				ZNF444_ENST00000592949.1_Intron	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN	zinc finger protein 444						regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|endometrium(1)|lung(5)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0531)		CAGCTGACATCTGGGGGCGCT	0.502													C|||	106	0.0211661	0.0045	0.0245	5008	,	,		21009	0.0109		0.0328	False		,,,				2504	0.0399															0			19																																								61353917	SO:0001627	intron_variant	0			AB052954	CCDS12939.1, CCDS59426.1	19q13.43	2013-01-09			ENSG00000167685	ENSG00000167685		"""-"", ""Zinc fingers, C2H2-type"""	16052	protein-coding gene	gene with protein product		607874				11978792, 19760602	Standard	NM_001253792		Approved	ZSCAN17, FLJ11137, EZF2	uc002qmm.3	Q8N0Y2		ENST00000337080.3:c.297+3528C>T	19.37:g.56662105C>T			61353917	Q8TEQ9|Q8WU35|Q9NUU1	Silent	SNP	NULL	p.Q298	ENST00000337080.3	37	c.894	CCDS12939.1	19																																																																																			-	NULL		0.502	ZNF444-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000204533	protein_coding	OTTHUMT00000457503.1	C	NM_018337		61353917	-1	no_stop_codon	ENST00000376272	ensembl	human	known	54_36p	silent	SNP	0.905	T
AHNAK	79026	genome.wustl.edu	37	11	62286674	62286674	+	Missense_Mutation	SNP	T	T	C	rs144349823		TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr11:62286674T>C	ENST00000378024.4	-	5	15489	c.15215A>G	c.(15214-15216)aAa>aGa	p.K5072R	AHNAK_ENST00000525875.1_5'Flank|AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5072					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CACGTCGACTTTGAGTGCAGC	0.448													T|||	1	0.000199681	0.0008	0.0	5008	,	,		20695	0.0		0.0	False		,,,				2504	0.0															0			11						T	ARG/LYS,	3,4401	6.2+/-15.9	0,3,2199	151.0	156.0	155.0		15215,	3.6	0.6	11	dbSNP_134	155	0,8598		0,0,4299	no	missense,intron	AHNAK	NM_001620.1,NM_024060.2	26,	0,3,6498	CC,CT,TT		0.0,0.0681,0.0231	probably-damaging,	5072/5891,	62286674	3,12999	2202	4299	6501	62043250	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.15215A>G	11.37:g.62286674T>C	ENSP00000367263:p.Lys5072Arg		62043250	A1A586	Missense_Mutation	SNP	superfamily_PDZ,HMMPfam_PDZ,HMMSmart_PDZ,HMMPfam_CheC	p.K5072R	ENST00000378024.4	37	c.15215	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	T	10.75	1.437996	0.25900	6.81E-4	0.0	ENSG00000124942	ENST00000378024	T	0.01560	4.77	4.71	3.58	0.41010	.	0.000000	0.45606	D	0.000360	T	0.05777	0.0151	L	0.60904	1.88	0.09310	N	1	D	0.64830	0.994	D	0.79108	0.992	T	0.29579	-1.0007	10	0.16420	T	0.52	-4.8228	8.498	0.33141	0.0:0.1662:0.0:0.8338	.	5072	Q09666	AHNK_HUMAN	R	5072	ENSP00000367263:K5072R	ENSP00000367263:K5072R	K	-	2	0	AHNAK	62043250	.	.	0.625000	0.29200	0.064000	0.16182	.	.	0.774000	0.33427	0.443000	0.29094	AAA	-	NULL		0.448	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	protein_coding	OTTHUMT00000395572.1	T	NM_024060		62043250	-1	no_errors	NM_001620	genbank	human	validated	54_36p	missense	SNP	0.027	C
CDH19	28513	genome.wustl.edu	37	18	64172451	64172451	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr18:64172451G>T	ENST00000262150.2	-	12	2209	c.1917C>A	c.(1915-1917)ttC>ttA	p.F639L	CDH19_ENST00000540086.1_3'UTR	NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	0	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CATCATATTGGAATATATTCT	0.383																																																0			18											137.0	140.0	139.0					18																	64172451		2203	4300	6503	62323431	SO:0001583	missense	28513			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.1917C>A	18.37:g.64172451G>T	ENSP00000262150:p.Phe639Leu		62323431	O15098	Missense_Mutation	SNP	superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C	p.F639L	ENST00000262150.2	37	c.1917	CCDS11994.1	18	.	.	.	.	.	.	.	.	.	.	g	14.37	2.515753	0.44763	.	.	ENSG00000071991	ENST00000262150	T	0.75589	-0.95	5.18	4.3	0.51218	Cadherin, cytoplasmic domain (1);	0.124915	0.56097	D	0.000039	T	0.58163	0.2103	N	0.12887	0.27	0.80722	D	1	B	0.27192	0.171	B	0.34385	0.181	T	0.53975	-0.8362	10	0.29301	T	0.29	.	10.3884	0.44154	0.16:0.0:0.84:0.0	.	639	Q9H159	CAD19_HUMAN	L	639	ENSP00000262150:F639L	ENSP00000262150:F639L	F	-	3	2	CDH19	62323431	0.978000	0.34361	0.862000	0.33874	0.487000	0.33371	1.722000	0.38042	1.280000	0.44463	0.650000	0.86243	TTC	-	HMMPfam_Cadherin_C		0.383	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH19	protein_coding	OTTHUMT00000256219.1	G	NM_021153		62323431	-1	no_errors	NM_021153	genbank	human	reviewed	54_36p	missense	SNP	0.978	T
LRIG1	26018	genome.wustl.edu	37	3	66460577	66460577	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr3:66460577C>T	ENST00000273261.3	-	7	1435	c.911G>A	c.(910-912)aGc>aAc	p.S304N	LRIG1_ENST00000383703.3_Missense_Mutation_p.S304N	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	304					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CTGGCAGAAGCTCCAGCCCTT	0.567																																																0			3											142.0	145.0	144.0					3																	66460577		2203	4300	6503	66543267	SO:0001583	missense	26018			AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.911G>A	3.37:g.66460577C>T	ENSP00000273261:p.Ser304Asn		66543267	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	HMMPfam_LRRNT,HMMSmart_SM00013,superfamily_L domain-like,HMMSmart_SM00369,HMMPfam_LRR_1,HMMSmart_SM00365,HMMSmart_SM00082,HMMPfam_LRRCT,HMMPfam_I-set,superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408	p.S304N	ENST00000273261.3	37	c.911	CCDS33783.1	3	.	.	.	.	.	.	.	.	.	.	C	17.60	3.429372	0.62844	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.26223	1.75;1.75	5.14	4.27	0.50696	.	0.092218	0.85682	D	0.000000	T	0.28797	0.0714	L	0.41632	1.29	0.38047	D	0.935657	B;B;B	0.32425	0.371;0.092;0.161	B;B;B	0.40782	0.34;0.052;0.093	T	0.25047	-1.0143	10	0.59425	D	0.04	.	13.898	0.63785	0.0:0.926:0.0:0.074	.	304;328;304	Q96JA1-2;Q5XWD3;Q96JA1	.;.;LRIG1_HUMAN	N	304;304;231	ENSP00000273261:S304N;ENSP00000373208:S304N	ENSP00000273261:S304N	S	-	2	0	LRIG1	66543267	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.520000	0.45554	1.308000	0.44962	0.591000	0.81541	AGC	-	superfamily_L domain-like,HMMSmart_SM00369		0.567	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG1	protein_coding	OTTHUMT00000351930.1	C	NM_015541		66543267	-1	no_errors	NM_015541	genbank	human	validated	54_36p	missense	SNP	1.000	T
SLC30A5	64924	genome.wustl.edu	37	5	68413108	68413108	+	Missense_Mutation	SNP	A	A	C			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr5:68413108A>C	ENST00000396591.3	+	11	1934	c.1324A>C	c.(1324-1326)Agt>Cgt	p.S442R	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	442					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		GCTGACCAATAGTCTGGGCCT	0.443																																																0			5											262.0	256.0	258.0					5																	68413108		2203	4300	6503	68448864	SO:0001583	missense	64924			AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"""Solute carriers"""	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.1324A>C	5.37:g.68413108A>C	ENSP00000379836:p.Ser442Arg		68448864	B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP	HMMPfam_Cation_efflux	p.S442R	ENST00000396591.3	37	c.1324	CCDS3996.1	5	.	.	.	.	.	.	.	.	.	.	A	21.1	4.093166	0.76756	.	.	ENSG00000145740	ENST00000396591;ENST00000438236	D	0.85258	-1.96	5.53	5.53	0.82687	.	0.036392	0.85682	D	0.000000	D	0.93766	0.8007	M	0.91510	3.215	0.80722	D	1	D;D;P	0.56287	0.975;0.969;0.93	D;P;D	0.73380	0.98;0.891;0.967	D	0.94944	0.8094	10	0.87932	D	0	.	15.4857	0.75564	1.0:0.0:0.0:0.0	.	271;271;442	Q9H9X0;Q8TAD4-2;Q8TAD4	.;.;ZNT5_HUMAN	R	442;55	ENSP00000379836:S442R	ENSP00000379836:S442R	S	+	1	0	SLC30A5	68448864	1.000000	0.71417	1.000000	0.80357	0.460000	0.32559	9.139000	0.94554	2.324000	0.78689	0.533000	0.62120	AGT	-	HMMPfam_Cation_efflux		0.443	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A5	protein_coding	OTTHUMT00000254017.2	A			68448864	+1	no_errors	NM_022902	genbank	human	provisional	54_36p	missense	SNP	1.000	C
EDA	1896	genome.wustl.edu	37	X	69249373	69249373	+	Silent	SNP	A	A	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chrX:69249373A>T	ENST00000374552.4	+	5	968	c.726A>T	c.(724-726)ggA>ggT	p.G242G	EDA_ENST00000524573.1_Silent_p.G242G|EDA_ENST00000374553.2_Silent_p.G242G	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	242					cell differentiation (GO:0030154)|cell-matrix adhesion (GO:0007160)|ectoderm development (GO:0007398)|gene expression (GO:0010467)|hair follicle placode formation (GO:0060789)|immune response (GO:0006955)|odontogenesis of dentin-containing tooth (GO:0042475)|pigmentation (GO:0043473)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|salivary gland cavitation (GO:0060662)|signal transduction (GO:0007165)|trachea gland development (GO:0061153)	apical part of cell (GO:0045177)|collagen trimer (GO:0005581)|cytoskeleton (GO:0005856)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						ATAAAGCTGGAACTCGAGAAA	0.478											OREG0019846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			X											158.0	125.0	136.0					X																	69249373		2203	4300	6503	69166098	SO:0001819	synonymous_variant	1896			U59227	CCDS14394.1, CCDS35318.1, CCDS35319.1, CCDS43966.1, CCDS35318.2, CCDS35319.2, CCDS55436.1	Xq12-q13.1	2013-05-22	2004-08-09	2004-08-12	ENSG00000158813	ENSG00000158813		"""Tumor necrosis factor (ligand) superfamily"""	3157	protein-coding gene	gene with protein product		300451	"""ectodermal dysplasia 1, anhidrotic"", ""oligodontia 1"""	ED1, EDA2, ODT1		8696334, 18657636, 16583127	Standard	NM_001005612		Approved	EDA1, XLHED, HED, XHED, ED1-A1, ED1-A2, EDA-A1, EDA-A2	uc004dxs.3	Q92838	OTTHUMG00000021764	ENST00000374552.4:c.726A>T	X.37:g.69249373A>T		1113	69166098	A0AUZ2|A2A337|B7ZLU2|B7ZLU4|O75910|Q5JS00|Q5JUM7|Q9UP77|Q9Y6L0|Q9Y6L1|Q9Y6L2|Q9Y6L3|Q9Y6L4	Silent	SNP	HMMPfam_Collagen,superfamily_TNF-like,HMMPfam_TNF	p.G242	ENST00000374552.4	37	c.726	CCDS14394.1	X																																																																																			-	NULL		0.478	EDA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EDA	protein_coding	OTTHUMT00000057048.2	A	NM_001399		69166098	+1	no_errors	NM_001399	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
DLG3	1741	genome.wustl.edu	37	X	69671761	69671761	+	Missense_Mutation	SNP	C	C	G	rs374626814		TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chrX:69671761C>G	ENST00000374360.3	+	7	1263	c.1030C>G	c.(1030-1032)Ctg>Gtg	p.L344V	RNU4-81P_ENST00000363561.1_RNA|DLG3-AS1_ENST00000424211.1_RNA|DLG3_ENST00000194900.4_Missense_Mutation_p.L362V|DLG3_ENST00000374355.3_5'Flank|DLG3-AS1_ENST00000431103.1_RNA	NM_021120.3	NP_066943.2	Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	344					axon guidance (GO:0007411)|establishment of planar polarity (GO:0001736)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|negative regulation of cell proliferation (GO:0008285)|negative regulation of phosphatase activity (GO:0010923)|synaptic transmission (GO:0007268)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|extracellular space (GO:0005615)|growth cone (GO:0030426)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synapse (GO:0045202)|tight junction (GO:0005923)	phosphatase binding (GO:0019902)			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					TAATTCCAGCCTGGGTTATCT	0.547											OREG0019853	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			X											84.0	69.0	74.0					X																	69671761		2203	4300	6503	69588486	SO:0001583	missense	1741			U49089	CCDS14403.1, CCDS43967.1, CCDS55439.1	Xq13.1	2014-06-12	2008-12-15		ENSG00000082458	ENSG00000082458			2902	protein-coding gene	gene with protein product	"""neuroendocrine-dlg"", ""protein phosphatase 1, regulatory subunit 82"""	300189	"""discs, large homolog 3 (neuroendocrine-dlg, Drosophila)"""			9598320	Standard	NM_021120		Approved	NE-Dlg, SAP102, SAP-102, NEDLG, KIAA1232, MRX90, PPP1R82	uc004dyi.2	Q92796	OTTHUMG00000021778	ENST00000374360.3:c.1030C>G	X.37:g.69671761C>G	ENSP00000363480:p.Leu344Val	1116	69588486	B4E0H1|D3DVU5|Q5JUW6|Q5JUW7|Q9ULI8	Missense_Mutation	SNP	HMMPfam_MAGUK_N_PEST,superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMPfam_PDZ_assoc,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00072,PatternScan_GUANYLATE_KINASE_1,HMMPfam_Guanylate_kin,HMMPfam_Gua_kin_assoc_C	p.L344V	ENST00000374360.3	37	c.1030	CCDS14403.1	X	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202731	0.38905	.	.	ENSG00000082458	ENST00000194900;ENST00000374360	T;T	0.12984	2.66;2.63	3.93	3.93	0.45458	PDZ-associated domain of NMDA receptors (1);	0.142496	0.28996	U	0.013469	T	0.15739	0.0379	M	0.64997	1.995	0.80722	D	1	B	0.24823	0.112	B	0.17433	0.018	T	0.04065	-1.0980	9	.	.	.	.	14.2916	0.66281	0.0:1.0:0.0:0.0	.	344	Q92796	DLG3_HUMAN	V	362;344	ENSP00000194900:L362V;ENSP00000363480:L344V	.	L	+	1	2	DLG3	69588486	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.305000	0.43664	1.798000	0.52647	0.538000	0.68166	CTG	-	HMMPfam_PDZ_assoc		0.547	DLG3-001	KNOWN	basic|CCDS	protein_coding	DLG3	protein_coding	OTTHUMT00000057074.2	C	NM_021120		69588486	+1	no_errors	NM_021120	genbank	human	validated	54_36p	missense	SNP	1.000	G
C8orf34	116328	genome.wustl.edu	37	8	69445372	69445372	+	Missense_Mutation	SNP	A	A	G			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr8:69445372A>G	ENST00000539993.1	+	7	1384	c.835A>G	c.(835-837)Atg>Gtg	p.M279V	C8orf34_ENST00000518698.1_Missense_Mutation_p.M365V|C8orf34_ENST00000348340.2_Missense_Mutation_p.M279V|C8orf34_ENST00000337103.4_Missense_Mutation_p.M254V			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	279										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AGATGATGCAATGGAATTGCT	0.338																																																0			8											81.0	81.0	81.0					8																	69445372		2203	4299	6502	69607926	SO:0001583	missense	116328			AB056652	CCDS6203.1, CCDS6203.2	8q13	2009-10-01			ENSG00000165084	ENSG00000165084			30905	protein-coding gene	gene with protein product	"""vestibule 1"""						Standard	NM_052958		Approved	vest-1, VEST1	uc010lyz.3	Q49A92	OTTHUMG00000164438	ENST00000539993.1:c.835A>G	8.37:g.69445372A>G	ENSP00000438159:p.Met279Val		69607926	A8K5X1|G3XAM6|Q8N1X0|Q8N9M7|Q8ND19|Q96Q28	Missense_Mutation	SNP	NULL	p.M254V	ENST00000539993.1	37	c.760		8	.	.	.	.	.	.	.	.	.	.	A	15.34	2.804971	0.50315	.	.	ENSG00000165084	ENST00000518698;ENST00000539993;ENST00000348340;ENST00000337103	T;T;T	0.50548	0.74;0.79;0.78	5.54	5.54	0.83059	.	0.000000	0.85682	D	0.000000	T	0.63663	0.2530	L	0.60455	1.87	0.43841	D	0.996422	P;P	0.48911	0.917;0.917	D;D	0.63488	0.915;0.915	T	0.62120	-0.6921	9	.	.	.	-14.3505	15.6522	0.77108	1.0:0.0:0.0:0.0	.	279;279	Q49A92;Q49A92-3	CH034_HUMAN;.	V	365;279;279;254	ENSP00000427820:M365V;ENSP00000438159:M279V;ENSP00000337174:M254V	.	M	+	1	0	C8orf34	69607926	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.330000	0.90019	2.108000	0.64289	0.482000	0.46254	ATG	-	NULL		0.338	C8orf34-201	KNOWN	basic|appris_candidate	protein_coding	C8orf34	protein_coding		A	NM_052958		69607926	+1	no_errors	NM_052958	genbank	human	predicted	54_36p	missense	SNP	1.000	G
SMC5	23137	genome.wustl.edu	37	9	72920249	72920249	+	Silent	SNP	A	A	G			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr9:72920249A>G	ENST00000361138.5	+	11	1609	c.1551A>G	c.(1549-1551)caA>caG	p.Q517Q		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	517	Flexible hinge.				cellular senescence (GO:0090398)|double-strand break repair via homologous recombination (GO:0000724)|mitotic nuclear division (GO:0007067)|positive regulation of maintenance of mitotic sister chromatid cohesion (GO:0034184)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|telomere maintenance via recombination (GO:0000722)	cell junction (GO:0030054)|chromosome, telomeric region (GO:0000781)|nucleus (GO:0005634)|PML body (GO:0016605)|Smc5-Smc6 complex (GO:0030915)	ATP binding (GO:0005524)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TTGAAAGTCAAGAAGATATGG	0.308																																																0			9											82.0	88.0	86.0					9																	72920249		2203	4299	6502	72110069	SO:0001819	synonymous_variant	23137			AB011166	CCDS6632.1	9q21.11	2008-02-05	2006-07-06	2006-07-06	ENSG00000198887	ENSG00000198887		"""Structural maintenance of chromosomes proteins"""	20465	protein-coding gene	gene with protein product		609386	"""SMC5 structural maintenance of chromosomes 5-like 1 (yeast)"""	SMC5L1		9628581	Standard	NM_015110		Approved	KIAA0594	uc004ahr.2	Q8IY18	OTTHUMG00000019992	ENST00000361138.5:c.1551A>G	9.37:g.72920249A>G			72110069	A6NM81|O60335|Q05D92|Q5VZ60|Q96SB9	Silent	SNP	HMMPfam_SMC_N,superfamily_SSF52540	p.Q517	ENST00000361138.5	37	c.1551	CCDS6632.1	9																																																																																			-	HMMPfam_SMC_N,superfamily_SSF52540		0.308	SMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC5	protein_coding	OTTHUMT00000052603.1	A	NM_015110		72110069	+1	no_errors	NM_015110	genbank	human	validated	54_36p	silent	SNP	1.000	G
KLF9	687	genome.wustl.edu	37	9	73002792	73002792	+	Missense_Mutation	SNP	A	A	C			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr9:73002792A>C	ENST00000377126.2	-	2	1895	c.635T>G	c.(634-636)tTc>tGc	p.F212C		NM_001206.2	NP_001197.1	Q13886	KLF9_HUMAN	Kruppel-like factor 9	212					cellular response to thyroid hormone stimulus (GO:0097067)|embryo implantation (GO:0007566)|progesterone receptor signaling pathway (GO:0050847)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						ACTCCTCATGAAGCGCTTCTC	0.587																																																0			9											84.0	79.0	81.0					9																	73002792		2203	4300	6503	72192612	SO:0001583	missense	687			BC069431	CCDS6633.1	9q21.11	2013-01-08	2004-11-29	2004-12-01	ENSG00000119138	ENSG00000119138		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	1123	protein-coding gene	gene with protein product		602902	"""basic transcription element binding protein 1"""	BTEB1		1356762	Standard	NM_001206		Approved		uc004aht.3	Q13886	OTTHUMG00000019991	ENST00000377126.2:c.635T>G	9.37:g.73002792A>C	ENSP00000366330:p.Phe212Cys		72192612	B2R943|Q16196	Missense_Mutation	SNP	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.F212C	ENST00000377126.2	37	c.635	CCDS6633.1	9	.	.	.	.	.	.	.	.	.	.	A	24.1	4.495153	0.85069	.	.	ENSG00000119138	ENST00000377126	D	0.83755	-1.76	5.47	5.47	0.80525	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000008	D	0.92064	0.7485	M	0.87456	2.885	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93443	0.6795	10	0.87932	D	0	.	15.5459	0.76101	1.0:0.0:0.0:0.0	.	212	Q13886	KLF9_HUMAN	C	212	ENSP00000366330:F212C	ENSP00000366330:F212C	F	-	2	0	KLF9	72192612	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.255000	0.95524	2.058000	0.61347	0.533000	0.62120	TTC	-	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1		0.587	KLF9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF9	protein_coding	OTTHUMT00000052602.1	A	NM_001206		72192612	-1	no_errors	NM_001206	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
BCL7B	9275	genome.wustl.edu	37	7	72954225	72954225	+	Silent	SNP	C	C	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr7:72954225C>T	ENST00000223368.2	-	4	846	c.423G>A	c.(421-423)caG>caA	p.Q141Q	BCL7B_ENST00000411832.1_Intron|BCL7B_ENST00000482231.1_5'UTR	NM_001707.3	NP_001698.2	Q9BQE9	BCL7B_HUMAN	B-cell CLL/lymphoma 7B	141							actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	9		Lung NSC(55;0.0659)|all_lung(88;0.152)				CCAGGATCTCCTGGCCCAGCG	0.602																																																0			7											81.0	73.0	76.0					7																	72954225		2203	4300	6503	72592161	SO:0001819	synonymous_variant	9275			X89985	CCDS5550.1, CCDS56489.1, CCDS75613.1	7q11.23	2008-07-18			ENSG00000106635	ENSG00000106635			1005	protein-coding gene	gene with protein product		605846				8605326, 9806765	Standard	NM_001707		Approved		uc003tyf.2	Q9BQE9	OTTHUMG00000023412	ENST00000223368.2:c.423G>A	7.37:g.72954225C>T			72592161	A8K226|C9JWD3|D3DXF0|O43769|Q13845|Q6ZW75	Silent	SNP	HMMPfam_BCL_N	p.Q141	ENST00000223368.2	37	c.423	CCDS5550.1	7																																																																																			-	NULL		0.602	BCL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL7B	protein_coding	OTTHUMT00000252194.1	C	NM_001707		72592161	-1	no_errors	NM_001707	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
RNF213	57674	genome.wustl.edu	37	17	78321283	78321283	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr17:78321283G>A	ENST00000582970.1	+	29	9291	c.9148G>A	c.(9148-9150)Gtg>Atg	p.V3050M	RNF213_ENST00000336301.6_Missense_Mutation_p.V1123M|RNF213_ENST00000508628.2_Missense_Mutation_p.V3099M	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3050					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAAAAACTACGTGGCACTGCA	0.532																																																0			17											71.0	65.0	67.0					17																	78321283		2203	4300	6503	75935878	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.9148G>A	17.37:g.78321283G>A	ENSP00000464087:p.Val3050Met		75935878	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,superfamily_RING/U-box,HMMSmart_SM00184,HMMPfam_zf-C3HC4	p.V1123M	ENST00000582970.1	37	c.3367	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	G	13.83	2.354641	0.41700	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.22945	1.93	5.71	4.74	0.60224	.	0.236154	0.34460	N	0.003960	T	0.20333	0.0489	L	0.41236	1.265	0.32468	N	0.543231	P	0.45348	0.856	B	0.34418	0.182	T	0.31223	-0.9951	10	0.72032	D	0.01	.	14.6454	0.68756	0.0701:0.0:0.9299:0.0	.	1123	Q63HN8	RN213_HUMAN	M	3050;3099;1123	ENSP00000338218:V1123M	ENSP00000338218:V1123M	V	+	1	0	RNF213	75935878	1.000000	0.71417	0.921000	0.36526	0.954000	0.61252	7.878000	0.87231	1.420000	0.47138	0.563000	0.77884	GTG	-	NULL		0.532	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	protein_coding	OTTHUMT00000443298.1	G	NM_020914		75935878	+1	no_errors	NM_020914	genbank	human	validated	54_36p	missense	SNP	1.000	A
SUCLG1	8802	genome.wustl.edu	37	2	84686349	84686349	+	Silent	SNP	G	G	A			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr2:84686349G>A	ENST00000393868.2	-	1	255	c.45C>T	c.(43-45)gtC>gtT	p.V15V		NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	15					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	TGCTGCCGGAGACCATGGTAG	0.697																																					Ovarian(48;203 1101 37206 40305 50790)											0			2											13.0	15.0	14.0					2																	84686349		1819	3449	5268	84539860	SO:0001819	synonymous_variant	8802			Z68204	CCDS1967.2	2p11.3	2008-02-05	2008-01-08		ENSG00000163541	ENSG00000163541	6.2.1.4		11449	protein-coding gene	gene with protein product		611224	"""succinate-CoA ligase, GDP-forming, alpha subunit"""			9128182	Standard	NM_003849		Approved		uc002son.3	P53597	OTTHUMG00000130023	ENST00000393868.2:c.45C>T	2.37:g.84686349G>A			84539860	Q9BWB0|Q9UNP6	Silent	SNP	superfamily_NAD(P)-bd,HMMPfam_CoA_binding,superfamily_CoA_ligase,HMMPfam_Ligase_CoA,PatternScan_SUCCINYL_COA_LIG_1,PatternScan_SUCCINYL_COA_LIG_2	p.V15	ENST00000393868.2	37	c.45	CCDS1967.2	2																																																																																			-	NULL		0.697	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUCLG1	protein_coding	OTTHUMT00000252298.2	G	NM_003849		84539860	-1	no_errors	NM_003849	genbank	human	validated	54_36p	silent	SNP	0.983	A
MMRN1	22915	genome.wustl.edu	37	4	90856203	90856203	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr4:90856203G>A	ENST00000394980.1	+	7	1691	c.1372G>A	c.(1372-1374)Gaa>Aaa	p.E458K	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.E458K|MMRN1_ENST00000508372.1_Missense_Mutation_p.E200K			Q13201	MMRN1_HUMAN	multimerin 1	458					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TGATATAGTGGAACTAAGGAA	0.373																																																0			4											68.0	68.0	68.0					4																	90856203		2201	4299	6500	91075226	SO:0001583	missense	22915			U27109	CCDS3635.1	4q22	2008-02-05	2004-03-02	2004-03-02	ENSG00000138722	ENSG00000138722		"""EMI domain containing"""	7178	protein-coding gene	gene with protein product	"""glycoprotein Ia*"""	601456	"""multimerin"""	MMRN		7629143, 10828608	Standard	NM_007351		Approved	ECM, EMILIN4, GPIa*	uc003hst.3	Q13201	OTTHUMG00000130947	ENST00000394980.1:c.1372G>A	4.37:g.90856203G>A	ENSP00000378431:p.Glu458Lys		91075226	Q4W5L1|Q6P3T8|Q6ZUL9	Missense_Mutation	SNP	HMMPfam_EMI,superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,HMMSmart_SM00179,PatternScan_ASX_HYDROXYL,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00110,superfamily_TNF-like,HMMPfam_C1q	p.E458K	ENST00000394980.1	37	c.1372	CCDS3635.1	4	.	.	.	.	.	.	.	.	.	.	G	5.546	0.285666	0.10513	.	.	ENSG00000138722	ENST00000394980;ENST00000264790;ENST00000508372	T;T;T	0.70986	-0.16;-0.16;-0.53	5.12	3.38	0.38709	.	0.616341	0.16113	N	0.229002	T	0.56529	0.1991	L	0.27053	0.805	0.80722	D	1	B	0.21606	0.058	B	0.21151	0.033	T	0.47420	-0.9119	10	0.28530	T	0.3	.	11.774	0.51975	0.1454:0.0:0.8546:0.0	.	458	Q13201	MMRN1_HUMAN	K	458;458;200	ENSP00000378431:E458K;ENSP00000264790:E458K;ENSP00000426461:E200K	ENSP00000264790:E458K	E	+	1	0	MMRN1	91075226	0.972000	0.33761	0.042000	0.18584	0.034000	0.12701	2.175000	0.42491	0.806000	0.34183	0.591000	0.81541	GAA	-	NULL		0.373	MMRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMRN1	protein_coding	OTTHUMT00000253546.2	G	NM_007351		91075226	+1	no_errors	NM_007351	genbank	human	reviewed	54_36p	missense	SNP	0.546	A
COL1A2	1278	genome.wustl.edu	37	7	94040248	94040248	+	Silent	SNP	C	C	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr7:94040248C>T	ENST00000297268.6	+	22	1716	c.1245C>T	c.(1243-1245)ggC>ggT	p.G415G		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	415					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GCAGAGCTGGCGTCATGGTAA	0.463										HNSCC(75;0.22)																																						0			7											150.0	145.0	147.0					7																	94040248		2203	4300	6503	93878184	SO:0001819	synonymous_variant	1278			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.1245C>T	7.37:g.94040248C>T			93878184	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	HMMPfam_Collagen,HMMSmart_SM00038,HMMPfam_COLFI	p.G415	ENST00000297268.6	37	c.1245	CCDS34682.1	7																																																																																			-	HMMPfam_Collagen		0.463	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A2	protein_coding	OTTHUMT00000309045.2	C	NM_000089		93878184	+1	no_errors	NM_000089	genbank	human	reviewed	54_36p	silent	SNP	0.999	T
CNN3	1266	genome.wustl.edu	37	1	95369073	95369073	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr1:95369073G>C	ENST00000370206.4	-	2	448	c.65C>G	c.(64-66)tCc>tGc	p.S22C	CNN3_ENST00000394202.4_Missense_Mutation_p.S22C|CNN3_ENST00000487539.1_5'Flank|CNN3_ENST00000545882.1_5'UTR|CNN3_ENST00000538964.1_Missense_Mutation_p.S22C	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	22					actomyosin structure organization (GO:0031032)|epithelial cell differentiation (GO:0030855)	focal adhesion (GO:0005925)				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		ATCATACTTGGAAGCAATCTG	0.448																																																0			1											103.0	96.0	98.0					1																	95369073		2203	4300	6503	95141661	SO:0001583	missense	1266			BC025372	CCDS30775.1, CCDS65592.1, CCDS65593.1	1p22-p21	2010-07-08			ENSG00000117519	ENSG00000117519			2157	protein-coding gene	gene with protein product		602374				8526917	Standard	NM_001839		Approved		uc001dqz.4	Q15417	OTTHUMG00000010783	ENST00000370206.4:c.65C>G	1.37:g.95369073G>C	ENSP00000359225:p.Ser22Cys		95141661	B4DFK6|B4DP09|F8WA86|Q6FHA7	Missense_Mutation	SNP	superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,HMMSmart_SM00033,PatternScan_CALPONIN_1,HMMPfam_Calponin	p.S22C	ENST00000370206.4	37	c.65	CCDS30775.1	1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.458416	0.63401	.	.	ENSG00000117519	ENST00000370206;ENST00000538964;ENST00000394202	T;T;T	0.61274	0.12;0.12;0.12	5.85	4.93	0.64822	Calponin homology domain (2);	0.221248	0.44902	D	0.000416	T	0.52645	0.1747	M	0.82056	2.57	0.80722	D	1	P;B	0.45531	0.86;0.056	P;B	0.50440	0.641;0.082	T	0.62613	-0.6817	10	0.51188	T	0.08	-6.357	4.5552	0.12133	0.2034:0.0:0.6236:0.173	.	22;22	F8WA86;Q15417	.;CNN3_HUMAN	C	22	ENSP00000359225:S22C;ENSP00000437665:S22C;ENSP00000377752:S22C	ENSP00000359225:S22C	S	-	2	0	CNN3	95141661	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.932000	0.63476	1.458000	0.47871	0.655000	0.94253	TCC	-	superfamily_Calponin-homology domain CH-domain		0.448	CNN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNN3	protein_coding	OTTHUMT00000029702.2	G	NM_001839		95141661	-1	no_errors	NM_001839	genbank	human	validated	54_36p	missense	SNP	0.882	C
KLHL32	114792	genome.wustl.edu	37	6	97561812	97561812	+	Missense_Mutation	SNP	G	G	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr6:97561812G>T	ENST00000369261.4	+	7	1144	c.781G>T	c.(781-783)Gtc>Ttc	p.V261F	KLHL32_ENST00000544166.1_Intron|KLHL32_ENST00000536676.1_Missense_Mutation_p.V225F|KLHL32_ENST00000539200.1_Missense_Mutation_p.V192F	NM_052904.3	NP_443136.2	Q96NJ5	KLH32_HUMAN	kelch-like family member 32	261										breast(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(13)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		all_cancers(76;1.19e-06)|Acute lymphoblastic leukemia(125;5.83e-10)|all_hematologic(75;3.67e-07)|all_epithelial(107;0.00778)|Colorectal(196;0.122)		BRCA - Breast invasive adenocarcinoma(108;0.0558)		AACAGCCCTTGTCAACGAGGC	0.527																																																0			6											128.0	103.0	112.0					6																	97561812		2203	4300	6503	97668533	SO:0001583	missense	114792			AB067487	CCDS5038.1, CCDS69154.1, CCDS69155.1, CCDS75495.1	6q16.3	2013-02-22	2013-02-22	2007-01-09	ENSG00000186231	ENSG00000186231		"""Kelch-like"", ""BTB/POZ domain containing"""	21221	protein-coding gene	gene with protein product			"""BTB and kelch domain containing 5"", ""KIAA1900"", ""kelch-like 32 (Drosophila)"""	BKLHD5, KIAA1900			Standard	NM_052904		Approved		uc010kcm.1	Q96NJ5	OTTHUMG00000015247	ENST00000369261.4:c.781G>T	6.37:g.97561812G>T	ENSP00000358265:p.Val261Phe		97668533	B7Z346|B7Z4E2|E1P528|Q5THT0|Q96PY7	Missense_Mutation	SNP	superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMSmart_SM00612,HMMPfam_Kelch_1	p.V261F	ENST00000369261.4	37	c.781	CCDS5038.1	6	.	.	.	.	.	.	.	.	.	.	G	12.23	1.876450	0.33162	.	.	ENSG00000186231	ENST00000369261;ENST00000536676;ENST00000539200	T;T;T	0.76186	-0.96;-0.99;-1.0	5.09	5.09	0.68999	.	0.057585	0.64402	D	0.000001	T	0.61311	0.2337	M	0.74467	2.265	0.80722	D	1	B;B;B;P	0.35383	0.215;0.177;0.026;0.498	B;B;B;B	0.32928	0.107;0.049;0.018;0.155	T	0.71224	-0.4656	10	0.87932	D	0	.	8.5781	0.33612	0.2076:0.0:0.7924:0.0	.	192;225;261;261	B7Z4E2;B7Z346;Q96NJ5;Q6IQ08	.;.;KLH32_HUMAN;.	F	261;225;192	ENSP00000358265:V261F;ENSP00000440382:V225F;ENSP00000441527:V192F	ENSP00000358265:V261F	V	+	1	0	KLHL32	97668533	0.987000	0.35691	0.968000	0.41197	0.558000	0.35554	1.941000	0.40233	2.632000	0.89209	0.655000	0.94253	GTC	-	superfamily_Galactose oxidase central domain		0.527	KLHL32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL32	protein_coding	OTTHUMT00000041570.1	G	NM_052904		97668533	+1	no_errors	NM_052904	genbank	human	validated	54_36p	missense	SNP	1.000	T
PLPPR4	9890	genome.wustl.edu	37	1	99772459	99772459	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr1:99772459C>T	ENST00000370185.3	+	7	2682	c.2185C>T	c.(2185-2187)Cgg>Tgg	p.R729W	LPPR4_ENST00000457765.1_Missense_Mutation_p.R671W|LPPR4_ENST00000370184.1_Missense_Mutation_p.R571W	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		729					axonogenesis (GO:0007409)|inner ear development (GO:0048839)|phospholipid dephosphorylation (GO:0046839)	integral component of plasma membrane (GO:0005887)	lipid phosphatase activity (GO:0042577)|phosphatidate phosphatase activity (GO:0008195)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		CTCCACCCTGCGGAGAAAGGG	0.512																																																0			1											60.0	58.0	59.0					1																	99772459		2203	4300	6503	99545047	SO:0001583	missense	9890																														ENST00000370185.3:c.2185C>T	1.37:g.99772459C>T	ENSP00000359204:p.Arg729Trp		99545047	E7EPS1|O75043|Q5T9R9|Q86XQ5|Q8N3F1|Q96MP0	Missense_Mutation	SNP	superfamily_Acid phosphatase/Vanadium-dependent haloperoxidase,HMMPfam_PAP2,HMMSmart_SM00014	p.R729W	ENST00000370185.3	37	c.2185	CCDS757.1	1	.	.	.	.	.	.	.	.	.	.	C	17.25	3.341992	0.61073	.	.	ENSG00000117600	ENST00000370185;ENST00000457765;ENST00000370184	T;T;T	0.34859	1.88;1.78;1.34	6.02	-1.29	0.09288	.	0.056560	0.64402	D	0.000002	T	0.44973	0.1319	L	0.61218	1.895	0.53005	D	0.999968	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.55114	-0.8191	9	.	.	.	-23.2012	19.0244	0.92926	0.466:0.534:0.0:0.0	.	671;729	E7EPS1;Q7Z2D5	.;LPPR4_HUMAN	W	729;671;571	ENSP00000359204:R729W;ENSP00000394913:R671W;ENSP00000359203:R571W	.	R	+	1	2	RP4-788L13.1	99545047	0.994000	0.37717	0.889000	0.34880	0.978000	0.69477	0.990000	0.29642	-0.097000	0.12307	-0.828000	0.03084	CGG	-	NULL		0.512	LPPR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPPR4	protein_coding	OTTHUMT00000029670.2	C			99545047	+1	no_errors	NM_014839	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
TEX10	54881	genome.wustl.edu	37	9	103108399	103108399	+	Silent	SNP	G	G	A			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr9:103108399G>A	ENST00000374902.4	-	4	1268	c.1092C>T	c.(1090-1092)tcC>tcT	p.S364S	TEX10_ENST00000537512.1_Silent_p.S299S|TEX10_ENST00000535814.1_Silent_p.S367S	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	364						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TCCACAGAAGGGAAATAATAT	0.373																																																0			9											71.0	73.0	73.0					9																	103108399		2203	4299	6502	102148220	SO:0001819	synonymous_variant	54881			AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.1092C>T	9.37:g.103108399G>A			102148220	B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Silent	SNP	superfamily_ARM-type_fold,HMMPfam_HEAT	p.S364	ENST00000374902.4	37	c.1092	CCDS6748.1	9																																																																																			-	NULL		0.373	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX10	protein_coding	OTTHUMT00000053416.1	G	NM_017746		102148220	-1	no_errors	NM_017746	genbank	human	provisional	54_36p	silent	SNP	0.835	A
MORF4L2	9643	genome.wustl.edu	37	X	102931234	102931234	+	Missense_Mutation	SNP	T	T	G			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chrX:102931234T>G	ENST00000441076.2	-	4	1026	c.722A>C	c.(721-723)tAt>tCt	p.Y241S	MORF4L2_ENST00000492116.1_5'Flank|MORF4L2_ENST00000422154.2_Missense_Mutation_p.Y241S|MORF4L2_ENST00000451301.1_Missense_Mutation_p.Y241S|MORF4L2_ENST00000433176.2_Missense_Mutation_p.Y241S|MORF4L2_ENST00000360458.1_Missense_Mutation_p.Y241S|MORF4L2_ENST00000423833.2_Missense_Mutation_p.Y241S	NM_001142419.1|NM_012286.2	NP_001135891.1|NP_036418.1	Q15014	MO4L2_HUMAN	mortality factor 4 like 2	241	MRG. {ECO:0000255|PROSITE- ProRule:PRU00972}.				chromatin modification (GO:0016568)|chromatin organization (GO:0006325)|DNA repair (GO:0006281)|positive regulation of striated muscle cell differentiation (GO:0051155)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						AAGGGGCGTATAGGCCAACAT	0.433																																																0			X											90.0	75.0	80.0					X																	102931234		2203	4300	6503	102817890	SO:0001583	missense	9643			AF100620	CCDS14512.1	Xq22	2010-11-24			ENSG00000123562	ENSG00000123562			16849	protein-coding gene	gene with protein product	"""MORF-related gene X"""	300409				9891081, 7584026	Standard	NM_012286		Approved	KIAA0026, MRGX	uc011msa.2	Q15014	OTTHUMG00000022104	ENST00000441076.2:c.722A>C	X.37:g.102931234T>G	ENSP00000391969:p.Tyr241Ser		102817890	B3KP92|D3DXA5|Q567V0|Q8J026	Missense_Mutation	SNP	HMMPfam_MRG	p.Y241S	ENST00000441076.2	37	c.722	CCDS14512.1	X	.	.	.	.	.	.	.	.	.	.	T	16.46	3.128227	0.56721	.	.	ENSG00000123562	ENST00000360458;ENST00000372620;ENST00000433176;ENST00000422154;ENST00000451301;ENST00000372619;ENST00000441076;ENST00000423833	T;T;T;T;T;T;T	0.08720	3.06;3.06;3.06;3.06;3.06;3.06;3.06	4.79	4.79	0.61399	.	0.060084	0.64402	D	0.000002	T	0.16938	0.0407	L	0.42581	1.335	0.80722	D	1	P	0.36660	0.564	P	0.55055	0.767	T	0.10730	-1.0617	10	0.21014	T	0.42	-17.8344	11.5301	0.50604	0.0:0.0:0.0:1.0	.	241	Q15014	MO4L2_HUMAN	S	241;123;241;241;241;223;241;241	ENSP00000353643:Y241S;ENSP00000361703:Y123S;ENSP00000415476:Y241S;ENSP00000394417:Y241S;ENSP00000410532:Y241S;ENSP00000391969:Y241S;ENSP00000416120:Y241S	ENSP00000353643:Y241S	Y	-	2	0	MORF4L2	102817890	1.000000	0.71417	0.975000	0.42487	0.979000	0.70002	4.247000	0.58750	2.088000	0.63022	0.486000	0.48141	TAT	-	HMMPfam_MRG		0.433	MORF4L2-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MORF4L2	protein_coding	OTTHUMT00000057732.1	T	NM_012286		102817890	-1	no_errors	NM_012286	genbank	human	validated	54_36p	missense	SNP	1.000	G
XIAP	331	genome.wustl.edu	37	X	123040873	123040873	+	Missense_Mutation	SNP	G	G	C			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chrX:123040873G>C	ENST00000371199.3	+	7	1635	c.1336G>C	c.(1336-1338)Gag>Cag	p.E446Q	XIAP_ENST00000468691.1_3'UTR|XIAP_ENST00000434753.3_Missense_Mutation_p.E446Q|XIAP_ENST00000355640.3_Missense_Mutation_p.E446Q	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	446					apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|copper ion homeostasis (GO:0055070)|inhibition of cysteine-type endopeptidase activity involved in apoptotic process (GO:1990001)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of neuron apoptotic process (GO:0043524)|neuron apoptotic process (GO:0051402)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of protein ubiquitination (GO:0031398)|protein ubiquitination (GO:0016567)|regulation of BMP signaling pathway (GO:0030510)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of innate immune response (GO:0045088)|regulation of nucleotide-binding oligomerization domain containing signaling pathway (GO:0070424)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						GCGCCTGCAAGAGGAGAAGCT	0.358									X-linked Lymphoproliferative syndrome																																							0			X											81.0	77.0	78.0					X																	123040873		2203	4300	6503	122868554	SO:0001583	missense	331	Familial Cancer Database	XLP, Duncan syndrome, Familial Fatal Epstein-Barr Infection, incl. XLP2	U45880	CCDS14606.1	Xq25	2014-09-17	2008-03-04	2008-03-04	ENSG00000101966	ENSG00000101966		"""Baculoviral IAP repeat containing"""	592	protein-coding gene	gene with protein product		300079	"""baculoviral IAP repeat-containing 4"""	API3, BIRC4		8552191, 8654366	Standard	NM_001167		Approved	hILP	uc010nqu.3	P98170	OTTHUMG00000022336	ENST00000371199.3:c.1336G>C	X.37:g.123040873G>C	ENSP00000360242:p.Glu446Gln		122868554	D3DTF2|Q9NQ14	Missense_Mutation	SNP	PatternScan_ZF_RING_1,superfamily_SSF57924,HMMSmart_BIR,PatternScan_BIR_REPEAT_1,HMMPfam_BIR,HMMSmart_RING	p.E446Q	ENST00000371199.3	37	c.1336	CCDS14606.1	X	.	.	.	.	.	.	.	.	.	.	g	17.22	3.334287	0.60853	.	.	ENSG00000101966	ENST00000434753;ENST00000371199;ENST00000355640	T;T;T	0.04119	3.7;3.7;3.7	5.27	5.27	0.74061	Baculoviral inhibition of apoptosis protein repeat (1);	0.000000	0.64402	D	0.000002	T	0.26521	0.0648	M	0.87456	2.885	0.39301	D	0.964901	D	0.76494	0.999	D	0.74674	0.984	T	0.12785	-1.0534	9	.	.	.	-9.7786	17.6165	0.88069	0.0:0.0:1.0:0.0	.	446	P98170	XIAP_HUMAN	Q	446	ENSP00000395230:E446Q;ENSP00000360242:E446Q;ENSP00000347858:E446Q	.	E	+	1	0	XIAP	122868554	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.572000	0.60886	2.190000	0.69967	0.594000	0.82650	GAG	-	superfamily_SSF57924		0.358	XIAP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	XIAP	protein_coding	OTTHUMT00000058165.5	G	NM_001167		122868554	+1	no_errors	NM_001167	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
TENM1	10178	genome.wustl.edu	37	X	123518243	123518243	+	Missense_Mutation	SNP	T	T	A			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chrX:123518243T>A	ENST00000371130.3	-	29	6580	c.6517A>T	c.(6517-6519)Agt>Tgt	p.S2173C	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.S2180C	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2173					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										AGATCGTAACTATAACGCCAC	0.448																																																0			X											139.0	128.0	132.0					X																	123518243		2203	4300	6503	123345924	SO:0001583	missense	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.6517A>T	X.37:g.123518243T>A	ENSP00000360171:p.Ser2173Cys		123345924	B2RTR5|Q5JZ17	Missense_Mutation	SNP	HMMPfam_Ten_N,HMMSmart_EGF,HMMPfam_EGF_2,PatternScan_EGF_1,PatternScan_EGF_2,HMMPfam_EGF,superfamily_SSF57196,superfamily_SSF101898,HMMPfam_NHL,superfamily_N2O_reductase_N,HMMPfam_RHS_repeat	p.S2173C	ENST00000371130.3	37	c.6517	CCDS14609.1	X	.	.	.	.	.	.	.	.	.	.	T	17.07	3.295767	0.60086	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.86769	-2.17;-2.13	5.52	4.37	0.52481	.	0.041195	0.85682	D	0.000000	D	0.92825	0.7718	M	0.85945	2.785	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.73380	0.97;0.98;0.969	D	0.93222	0.6609	10	0.72032	D	0.01	.	9.9967	0.41905	0.0:0.0798:0.0:0.9202	.	2179;2180;2173	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	C	2173;2180	ENSP00000360171:S2173C;ENSP00000403954:S2180C	ENSP00000360171:S2173C	S	-	1	0	ODZ1	123345924	1.000000	0.71417	0.998000	0.56505	0.936000	0.57629	6.288000	0.72679	1.843000	0.53566	0.441000	0.28932	AGT	-	HMMPfam_RHS_repeat		0.448	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODZ1	protein_coding	OTTHUMT00000058985.1	T	NM_014253		123345924	-1	no_errors	NM_014253	genbank	human	provisional	54_36p	missense	SNP	1.000	A
TACC2	10579	genome.wustl.edu	37	10	123842938	123842938	+	Missense_Mutation	SNP	G	G	A			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr10:123842938G>A	ENST00000369005.1	+	4	1263	c.923G>A	c.(922-924)aGg>aAg	p.R308K	TACC2_ENST00000334433.3_Missense_Mutation_p.R308K|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.R308K|TACC2_ENST00000453444.2_Missense_Mutation_p.R308K|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.R308K	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	308					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GAATTCCTCAGGGCCTGCCAT	0.587																																																0			10											43.0	52.0	49.0					10																	123842938		2203	4300	6503	123832928	SO:0001583	missense	10579			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.923G>A	10.37:g.123842938G>A	ENSP00000358001:p.Arg308Lys		123832928	Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	HMMPfam_TACC	p.R308K	ENST00000369005.1	37	c.923	CCDS7626.1	10	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528485	0.27299	.	.	ENSG00000138162	ENST00000369005;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000453444;ENST00000340076	T;T;T;T;T	0.02812	4.16;4.15;4.16;4.16;4.15	5.25	2.1	0.27182	.	1.362200	0.05102	N	0.487248	T	0.01940	0.0061	N	0.14661	0.345	0.09310	N	1	B;B;B	0.17038	0.02;0.02;0.02	B;B;B	0.14578	0.011;0.011;0.011	T	0.41360	-0.9513	10	0.02654	T	1	0.0616	6.7022	0.23230	0.307:0.0:0.693:0.0	.	308;308;308	E9PBC6;E7EMZ9;O95359	.;.;TACC2_HUMAN	K	308;308;308;308;308;298	ENSP00000358001:R308K;ENSP00000424467:R308K;ENSP00000427618:R308K;ENSP00000334280:R308K;ENSP00000395048:R308K	ENSP00000334280:R308K	R	+	2	0	TACC2	123832928	0.000000	0.05858	0.001000	0.08648	0.043000	0.13939	0.595000	0.24029	0.742000	0.32697	0.555000	0.69702	AGG	-	NULL		0.587	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	protein_coding	OTTHUMT00000090004.1	G			123832928	+1	no_errors	NM_206862	genbank	human	reviewed	54_36p	missense	SNP	0.000	A
MAP3K5	4217	genome.wustl.edu	37	6	137019684	137019684	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr6:137019684C>T	ENST00000359015.4	-	4	1109	c.749G>A	c.(748-750)tGc>tAc	p.C250Y		NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	250					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		AAGAGGTAAGCAGATGGGTCC	0.413																																																0			6											121.0	106.0	111.0					6																	137019684		2203	4300	6503	137061377	SO:0001583	missense	4217			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.749G>A	6.37:g.137019684C>T	ENSP00000351908:p.Cys250Tyr		137061377	A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	HMMSmart_S_TKc,HMMPfam_Pkinase,superfamily_Kinase_like,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST,superfamily_SAM_homology	p.C250Y	ENST00000359015.4	37	c.749	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	C	20.8	4.056228	0.76074	.	.	ENSG00000197442	ENST00000359015;ENST00000367768	T	0.09630	2.96	5.69	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.21718	0.0523	M	0.70595	2.14	0.80722	D	1	D;D;D	0.76494	0.996;0.999;0.995	D;D;D	0.72982	0.979;0.977;0.913	T	0.01428	-1.1357	10	0.42905	T	0.14	.	15.9914	0.80208	0.1358:0.8642:0.0:0.0	.	330;95;250	Q59GL6;B4DF67;Q99683	.;.;M3K5_HUMAN	Y	250;330	ENSP00000351908:C250Y	ENSP00000351908:C250Y	C	-	2	0	MAP3K5	137061377	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.487000	0.81328	1.377000	0.46286	0.655000	0.94253	TGC	-	NULL		0.413	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	protein_coding	OTTHUMT00000042383.1	C			137061377	-1	no_errors	NM_005923	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
GABRQ	55879	genome.wustl.edu	37	X	151808926	151808926	+	Splice_Site	SNP	A	A	G			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chrX:151808926A>G	ENST00000370306.2	+	2	257	c.237A>G	c.(235-237)ggA>ggG	p.G79G		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	79					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CGAATTTTGGAGGTAAGGCAT	0.483																																																0			X											136.0	114.0	122.0					X																	151808926		2203	4300	6503	151559582	SO:0001630	splice_region_variant	55879			U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.238+1A>G	X.37:g.151808926A>G			151559582	A6NFN1|Q32MB4|Q9NZK8	Silent	SNP	superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD,PatternScan_NEUROTR_ION_CHANNEL,superfamily_Neu_channel_TM,HMMPfam_Neur_chan_memb	p.G79	ENST00000370306.2	37	c.237	CCDS14707.1	X																																																																																			-	superfamily_Neur_chan_LBD,HMMPfam_Neur_chan_LBD		0.483	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRQ	protein_coding	OTTHUMT00000058763.2	A	NM_018558	Silent	151559582	+1	no_errors	NM_018558	genbank	human	reviewed	54_36p	silent	SNP	1.000	G
ETV3L	440695	genome.wustl.edu	37	1	157067751	157067751	+	Missense_Mutation	SNP	C	C	A			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr1:157067751C>A	ENST00000454449.2	-	4	800	c.516G>T	c.(514-516)caG>caT	p.Q172H		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	172					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				CCACCATGGCCTGATGGGCAA	0.587																																																0			1											67.0	65.0	66.0					1																	157067751		2203	4300	6503	155334375	SO:0001583	missense	440695			AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"""ets variant gene 3-like"""				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.516G>T	1.37:g.157067751C>A	ENSP00000430271:p.Gln172His		155334375		Missense_Mutation	SNP	superfamily_SSF46785,HMMPfam_Ets,HMMSmart_ETS,PatternScan_ETS_DOMAIN_1,PatternScan_ETS_DOMAIN_2	p.Q172H	ENST00000454449.2	37	c.516	CCDS30893.1	1	.	.	.	.	.	.	.	.	.	.	C	2.119	-0.401797	0.04865	.	.	ENSG00000253831	ENST00000454449	T	0.08634	3.07	3.76	0.645	0.17782	.	.	.	.	.	T	0.01124	0.0037	N	0.08118	0	0.09310	N	1	B	0.30664	0.289	B	0.25405	0.06	T	0.46289	-0.9202	9	0.59425	D	0.04	.	4.3078	0.10956	0.4018:0.486:0.0:0.1121	.	172	Q6ZN32	ETV3L_HUMAN	H	172	ENSP00000430271:Q172H	ENSP00000430271:Q172H	Q	-	3	2	ETV3L	155334375	0.077000	0.21312	0.005000	0.12908	0.010000	0.07245	0.256000	0.18351	0.140000	0.18849	0.555000	0.69702	CAG	-	superfamily_SSF46785		0.587	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV3L	protein_coding	OTTHUMT00000099024.2	C	NM_001004341		155334375	-1	no_errors	NM_001004341	genbank	human	provisional	54_36p	missense	SNP	0.417	A
SYNJ2	8871	genome.wustl.edu	37	6	158502243	158502243	+	Silent	SNP	C	C	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr6:158502243C>T	ENST00000355585.4	+	19	2745	c.2670C>T	c.(2668-2670)gcC>gcT	p.A890A	SYNJ2_ENST00000367112.1_5'UTR|SYNJ2_ENST00000367122.2_Silent_p.A890A|SYNJ2_ENST00000367121.3_Silent_p.A890A	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	890	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|membrane (GO:0016020)	nucleotide binding (GO:0000166)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CCCTGGATGCCACTGTTGTAG	0.542																																																0			6											148.0	148.0	148.0					6																	158502243		2203	4300	6503	158422231	SO:0001819	synonymous_variant	8871			AB002346	CCDS5254.1	6q25.3	2008-05-15			ENSG00000078269	ENSG00000078269			11504	protein-coding gene	gene with protein product		609410					Standard	NM_003898		Approved	INPP5H	uc003qqx.2	O15056	OTTHUMG00000015904	ENST00000355585.4:c.2670C>T	6.37:g.158502243C>T			158422231	Q5TA13|Q5TA16|Q5TA19|Q86XK0|Q8IZA8|Q9H226	Silent	SNP	HMMPfam_Syja_N,superfamily_DNase I-like,HMMSmart_SM00128,HMMPfam_Exo_endo_phos,HMMPfam_DUF1866,superfamily_RNA-binding domain RBD	p.A890	ENST00000355585.4	37	c.2670	CCDS5254.1	6																																																																																			-	superfamily_DNase I-like,HMMPfam_DUF1866,superfamily_RNA-binding domain RBD		0.542	SYNJ2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNJ2	protein_coding	OTTHUMT00000042858.2	C			158422231	+1	no_errors	NM_003898	genbank	human	provisional	54_36p	silent	SNP	1.000	T
ATF6	22926	genome.wustl.edu	37	1	161771867	161771867	+	Silent	SNP	T	T	G			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr1:161771867T>G	ENST00000367942.3	+	7	781	c.714T>G	c.(712-714)ccT>ccG	p.P238P		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	238					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)|positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response (GO:0006990)|protein folding (GO:0006457)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to stress (GO:0006950)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)		Pseudoephedrine(DB00852)	TGTCTCAGCCTACTGTGGTAC	0.502																																																0			1											133.0	116.0	122.0					1																	161771867		2203	4300	6503	160038491	SO:0001819	synonymous_variant	22926			AB015856	CCDS1235.1	1q22-q23	2013-01-10			ENSG00000118217	ENSG00000118217		"""basic leucine zipper proteins"""	791	protein-coding gene	gene with protein product	"""activating transcription factor 6 alpha"""	605537				9837962, 9271374, 11256944	Standard	NM_007348		Approved	ATF6A	uc001gbs.3	P18850	OTTHUMG00000023961	ENST00000367942.3:c.714T>G	1.37:g.161771867T>G			160038491	O15139|Q5VW62|Q6IPB5|Q9UEC9	Silent	SNP	HMMSmart_BRLZ,HMMPfam_bZIP_1,PatternScan_BZIP_BASIC	p.P238	ENST00000367942.3	37	c.714	CCDS1235.1	1																																																																																			-	NULL		0.502	ATF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATF6	protein_coding	OTTHUMT00000060304.2	T	NM_007348		160038491	+1	no_errors	NM_007348	genbank	human	validated	54_36p	silent	SNP	0.062	G
GRM6	2916	genome.wustl.edu	37	5	178410092	178410092	+	Missense_Mutation	SNP	A	A	C			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr5:178410092A>C	ENST00000517717.1	-	10	2293	c.2255T>G	c.(2254-2256)aTc>aGc	p.I752S	RP11-281O15.4_ENST00000519491.1_RNA|GRM6_ENST00000231188.5_Missense_Mutation_p.I752S			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	752					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CAGGCAGCCGATGAGAGACAG	0.632																																																0			5											111.0	94.0	100.0					5																	178410092		2203	4300	6503	178342698	SO:0001583	missense	2916			U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.2255T>G	5.37:g.178410092A>C	ENSP00000430767:p.Ile752Ser		178342698		Missense_Mutation	SNP	superfamily_SSF53822,HMMPfam_ANF_receptor,PatternScan_G_PROTEIN_RECEP_F3_1,HMMPfam_NCD3G,PatternScan_G_PROTEIN_RECEP_F3_2,HMMPfam_7tm_3,PatternScan_G_PROTEIN_RECEP_F3_3	p.I752S	ENST00000517717.1	37	c.2255	CCDS4442.1	5	.	.	.	.	.	.	.	.	.	.	A	22.3	4.272267	0.80580	.	.	ENSG00000113262	ENST00000231188;ENST00000517717	D;D	0.88431	-2.38;-2.38	5.17	5.17	0.71159	GPCR, family 3, C-terminal (2);	.	.	.	.	D	0.91503	0.7317	L	0.49513	1.565	0.51482	D	0.999928	D;D	0.61697	0.957;0.99	P;P	0.62740	0.836;0.906	D	0.92021	0.5626	9	0.62326	D	0.03	.	13.262	0.60111	1.0:0.0:0.0:0.0	.	752;46	O15303;Q5HYM4	GRM6_HUMAN;.	S	752	ENSP00000231188:I752S;ENSP00000430767:I752S	ENSP00000231188:I752S	I	-	2	0	GRM6	178342698	1.000000	0.71417	0.963000	0.40424	0.642000	0.38348	7.344000	0.79328	2.091000	0.63221	0.254000	0.18369	ATC	-	HMMPfam_7tm_3		0.632	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM6	protein_coding	OTTHUMT00000253474.2	A			178342698	-1	no_errors	NM_000843	genbank	human	reviewed	54_36p	missense	SNP	0.994	C
LRP2BP	55805	genome.wustl.edu	37	4	186291955	186291955	+	Missense_Mutation	SNP	C	C	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr4:186291955C>T	ENST00000328559.7	-	7	1628	c.817G>A	c.(817-819)Gat>Aat	p.D273N	RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000505916.1_Missense_Mutation_p.D273N|LRP2BP_ENST00000362004.3_Missense_Mutation_p.D275N|LRP2BP_ENST00000510776.1_Missense_Mutation_p.D247N	NM_018409.3	NP_060879.2	Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	273						cytoplasm (GO:0005737)				breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		TGAACCTCATCATAGTCAGCG	0.502																																																0			4											124.0	101.0	109.0					4																	186291955		2203	4300	6503	186528949	SO:0001583	missense	55805			AB037746	CCDS3840.1	4q35.1	2011-05-03			ENSG00000109771	ENSG00000109771			25434	protein-coding gene	gene with protein product						10718198, 12508107	Standard	NM_018409		Approved	DKFZp761O0113	uc003ixj.2	Q9P2M1	OTTHUMG00000160460	ENST00000328559.7:c.817G>A	4.37:g.186291955C>T	ENSP00000332681:p.Asp273Asn		186528949	A6NJR7|A7E219|B3KX83|Q9NSN6	Missense_Mutation	SNP	superfamily_HCP-like,HMMPfam_TPR_2,HMMSmart_SM00671,HMMPfam_Sel1	p.D273N	ENST00000328559.7	37	c.817	CCDS3840.1	4	.	.	.	.	.	.	.	.	.	.	C	21.1	4.102604	0.76983	.	.	ENSG00000109771	ENST00000362004;ENST00000328559;ENST00000510776;ENST00000505916	T;T;T;T	0.49720	0.77;0.8;0.79;0.8	5.64	5.64	0.86602	Tetratricopeptide-like helical (1);	0.219163	0.47093	D	0.000258	T	0.57475	0.2056	L	0.29908	0.895	0.52501	D	0.999957	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.45205	-0.9277	10	0.21540	T	0.41	-39.9609	18.635	0.91374	0.0:1.0:0.0:0.0	.	247;273	G5E9Z9;Q9P2M1	.;LR2BP_HUMAN	N	275;273;247;273	ENSP00000354846:D275N;ENSP00000332681:D273N;ENSP00000424610:D247N;ENSP00000426203:D273N	ENSP00000332681:D273N	D	-	1	0	LRP2BP	186528949	0.999000	0.42202	0.957000	0.39632	0.250000	0.25880	5.295000	0.65692	2.937000	0.99478	0.650000	0.86243	GAT	-	superfamily_HCP-like		0.502	LRP2BP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LRP2BP	protein_coding	OTTHUMT00000360679.2	C	NM_018409		186528949	-1	no_errors	NM_018409	genbank	human	validated	54_36p	missense	SNP	0.998	T
ACTN2	88	genome.wustl.edu	37	1	236906286	236906286	+	Nonsense_Mutation	SNP	G	G	T			TCGA-42-2591-01A-01D-1526-09	TCGA-42-2591-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	e6556b91-c4cc-491c-863e-1b7a536eac50	188673ae-cf55-4e58-aff7-cc1b2d55ec07	g.chr1:236906286G>T	ENST00000366578.4	+	11	1364	c.1198G>T	c.(1198-1200)Gaa>Taa	p.E400*	ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000542672.1_Nonsense_Mutation_p.E400*|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	400					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GGAGCGCTTGGAACACCTGGC	0.522																																																0			1											114.0	106.0	109.0					1																	236906286		2203	4300	6503	234972909	SO:0001587	stop_gained	88			BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1198G>T	1.37:g.236906286G>T	ENSP00000355537:p.Glu400*		234972909	B1ANE4|B2RCS5|Q86TF4|Q86TI8	Nonsense_Mutation	SNP	superfamily_Calponin-homology domain CH-domain,HMMPfam_CH,PatternScan_ACTININ_1,HMMSmart_SM00033,PatternScan_ACTININ_2,superfamily_Spectrin repeat,HMMPfam_Spectrin,HMMSmart_SM00150,superfamily_EF-hand,HMMSmart_SM00054,HMMPfam_efhand,HMMPfam_efhand_Ca_insen	p.E400*	ENST00000366578.4	37	c.1198	CCDS1613.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.629463	0.98399	.	.	ENSG00000077522	ENST00000542672;ENST00000366578;ENST00000545611	.	.	.	5.47	5.47	0.80525	.	0.253444	0.44902	D	0.000419	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.6958	0.96026	0.0:0.0:1.0:0.0	.	.	.	.	X	400;400;169	.	ENSP00000355537:E400X	E	+	1	0	ACTN2	234972909	1.000000	0.71417	0.870000	0.34147	0.879000	0.50718	9.860000	0.99555	2.721000	0.93114	0.655000	0.94253	GAA	-	superfamily_Spectrin repeat		0.522	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACTN2	protein_coding	OTTHUMT00000096628.1	G	NM_001103		234972909	+1	no_errors	NM_001103	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	T
