#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_ ensembl_gene_id	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	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_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_dbSNP	i_default_gene_name	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_name_source	i_gene_type	i_havana_transcript	i_n_alt_count	i_n_alt_count_full	i_n_alt_count_val	i_n_ref_count	i_n_ref_count_full	i_n_ref_count_val	i_normal_vaf	i_normal_vaf_val	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_t_alt_count_full	i_t_alt_count_val	i_t_ref_count_full	i_t_ref_count_val	i_tier	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_vaf	i_tumor_vaf_val	i_type	i_ucsc_cons	i_variant	t_alt_count	t_ref_count
COIL	8161	genome.wustl.edu	37	17	55028339	55028339	+	Silent	SNP	T	T	C			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr17:55028339T>C	ENST00000240316.4	-	2	298	c.264A>G	c.(262-264)agA>agG	p.R88R		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	88						Cajal body (GO:0015030)|cytoplasm (GO:0005737)|female germ cell nucleus (GO:0001674)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	disulfide oxidoreductase activity (GO:0015036)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					CAGCAACTCCTCTCTCTTCTA	0.368													ENSG00000121058																																					0													35.0	37.0	37.0					17																	55028339		2185	4276	6461	SO:0001819	synonymous_variant	0			-	U06632	CCDS11592.1	17q22	2012-10-02			ENSG00000121058	ENSG00000121058			2184	protein-coding gene	gene with protein product		600272				7971277	Standard	NM_004645		Approved	CLN80, p80-coilin	uc002iuu.3	P38432	OTTHUMG00000178126	ENST00000240316.4:c.264A>G	17.37:g.55028339T>C			B2R931	Silent	SNP	NULL	p.R88	ENST00000240316.4	37	c.264	CCDS11592.1	17																																																																																			-	COIL	-	NULL		0.368	COIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COIL	HGNC	protein_coding	OTTHUMT00000440618.1	0	0	0	29	29	45	0.00	0.00	T			55028339	-1	18	21	17	25	tier1	no_errors	ENST00000240316	ensembl	human	known	74_37	silent	51.43	45.65	SNP	0.004	C	18	17
ACTN4	81	genome.wustl.edu	37	19	39195638	39195638	+	Silent	SNP	C	C	T			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr19:39195638C>T	ENST00000252699.2	+	4	538	c.462C>T	c.(460-462)gcC>gcT	p.A154A	ACTN4_ENST00000390009.3_Intron|ACTN4_ENST00000424234.2_Intron	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	154	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TTAGGTTCGCCATCCAGGACA	0.577													ENSG00000130402																									Colon(168;199 1940 10254 46213 46384)												0													153.0	115.0	128.0					19																	39195638		2203	4300	6503	SO:0001819	synonymous_variant	0			-	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.462C>T	19.37:g.39195638C>T			A4K467|D6PXK4|O76048	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,pfscan_CH-domain,pfscan_EF_hand_dom	p.A154	ENST00000252699.2	37	c.462	CCDS12518.1	19																																																																																			-	ACTN4	-	superfamily_CH-domain,pfscan_CH-domain		0.577	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTN4	HGNC	protein_coding	OTTHUMT00000268091.1	0	0	1	80	80	97	0.00	1.02	C			39195638	+1	33	22	35	56	tier1	no_errors	ENST00000252699	ensembl	human	known	74_37	silent	48.53	28.21	SNP	1.000	T	33	35
NUP210P1	255330	genome.wustl.edu	37	3	126382250	126382250	+	RNA	SNP	C	C	T			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr3:126382250C>T	ENST00000357061.3	+	0	217					NR_034158.1				nucleoporin 210kDa pseudogene 1																		CACTGGTGAGCGCTTCCAGGC	0.572													ENSG00000198284																																					0																																												0			-	BC042038		3q21.2	2011-08-16	2011-08-16	2011-08-16	ENSG00000198284	ENSG00000198284			27399	pseudogene	pseudogene			"""chromosome 3 open reading frame 46"""	C3orf46			Standard	NR_034158		Approved		uc003eje.1		OTTHUMG00000159577		3.37:g.126382250C>T				R	SNP	-	NULL	ENST00000357061.3	37	NULL		3																																																																																			-	NUP210P1	-	-		0.572	NUP210P1-002	KNOWN	basic	processed_transcript	NUP210P1	HGNC	pseudogene	OTTHUMT00000356320.1	0	0	0	38	38	40	0.00	0.00	C	NR_034158		126382250	+1	27	28	19	33	tier1	no_errors	ENST00000357061	ensembl	human	known	74_37	rna	58.70	45.90	SNP	0.424	T	27	19
BNC2	54796	genome.wustl.edu	37	9	16552635	16552635	+	Missense_Mutation	SNP	T	T	A			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	T	T	T	A	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr9:16552635T>A	ENST00000380672.4	-	5	619	c.562A>T	c.(562-564)Atc>Ttc	p.I188F	BNC2_ENST00000380666.2_Missense_Mutation_p.I188F|BNC2_ENST00000545497.1_Missense_Mutation_p.I93F|BNC2_ENST00000380667.2_Missense_Mutation_p.I121F	NM_017637.5	NP_060107.3			basonuclin 2											NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TCCAGCAGGATCTTTAGCCGC	0.557													ENSG00000173068																																					0													125.0	94.0	105.0					9																	16552635		2203	4300	6503	SO:0001583	missense	0			-	AK092247	CCDS6482.2	9p22.2	2013-05-20			ENSG00000173068	ENSG00000173068		"""Zinc fingers, C2H2-type"""	30988	protein-coding gene	gene with protein product		608669				14702039	Standard	XM_006716784		Approved	BSN2, FLJ20043	uc003zml.3	Q6ZN30	OTTHUMG00000019593	ENST00000380672.4:c.562A>T	9.37:g.16552635T>A	ENSP00000370047:p.Ile188Phe			Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I188F	ENST00000380672.4	37	c.562	CCDS6482.2	9	.	.	.	.	.	.	.	.	.	.	T	32	5.141932	0.94560	.	.	ENSG00000173068	ENST00000380672;ENST00000418777;ENST00000456672;ENST00000436939;ENST00000380667;ENST00000545497;ENST00000544198;ENST00000380666;ENST00000540340	T;T;T;T;T	0.03717	3.83;3.83;3.83;3.83;3.83	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.20007	0.0481	M	0.77103	2.36	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.995;0.987;0.999;1.0;0.995;0.999	D;D;D;D;D;D;D	0.91635	0.998;0.969;0.974;0.994;0.999;0.969;0.986	T	0.00085	-1.2098	10	0.87932	D	0	-21.817	16.6512	0.85203	0.0:0.0:0.0:1.0	.	93;121;225;188;14;146;188	F5H586;B1APH0;Q06HC4;Q6ZN30-2;B4E3J2;Q5H9S4;Q6ZN30	.;.;.;.;.;.;BNC2_HUMAN	F	188;145;225;216;121;93;14;188;188	ENSP00000370047:I188F;ENSP00000408370:I145F;ENSP00000370042:I121F;ENSP00000444640:I93F;ENSP00000370041:I188F	ENSP00000370041:I188F	I	-	1	0	BNC2	16542635	1.000000	0.71417	1.000000	0.80357	0.773000	0.43773	8.040000	0.89188	2.333000	0.79357	0.482000	0.46254	ATC	-	BNC2	-	NULL		0.557	BNC2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BNC2	HGNC	protein_coding	OTTHUMT00000216901.5	0	0	0	45	45	70	0.00	0.00	T	NM_017637		16552635	-1	22	29	36	43	tier1	no_errors	ENST00000380672	ensembl	human	known	74_37	missense	37.93	40.28	SNP	1.000	A	22	36
RCC1	1104	genome.wustl.edu	37	1	28858479	28858479	+	Missense_Mutation	SNP	G	G	T			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr1:28858479G>T	ENST00000373833.6	+	6	523	c.238G>T	c.(238-240)Gtg>Ttg	p.V80L	RCC1_ENST00000373832.1_Missense_Mutation_p.V80L|RCC1_ENST00000429051.1_3'UTR|RCC1_ENST00000373831.3_Missense_Mutation_p.V111L|RCC1_ENST00000398958.2_Missense_Mutation_p.V80L			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	80					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		CATGCACACCGTGTGTCTAAG	0.607													ENSG00000180198																																					0													58.0	59.0	59.0					1																	28858479		2203	4300	6503	SO:0001583	missense	0			-	X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"""chromosome condensation 1"""	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.238G>T	1.37:g.28858479G>T	ENSP00000362939:p.Val80Leu		Q16269|Q6NT97	Missense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.V111L	ENST00000373833.6	37	c.331	CCDS323.1	1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.278594	0.59758	.	.	ENSG00000180198	ENST00000398958;ENST00000427469;ENST00000434290;ENST00000373833;ENST00000419074;ENST00000373832;ENST00000373831;ENST00000411533;ENST00000430407	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	5.86	5.86	0.93980	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	T	0.81389	0.4812	N	0.11255	0.115	0.80722	D	1	B;D;D	0.58268	0.024;0.969;0.982	B;P;P	0.54499	0.044;0.754;0.754	T	0.81061	-0.1103	10	0.30078	T	0.28	-15.316	16.9762	0.86313	0.0:0.0:1.0:0.0	.	111;97;80	P18754-2;E9PAT9;P18754	.;.;RCC1_HUMAN	L	80;80;88;80;80;80;111;97;80	ENSP00000381931:V80L;ENSP00000402740:V80L;ENSP00000405258:V88L;ENSP00000362939:V80L;ENSP00000402260:V80L;ENSP00000362938:V80L;ENSP00000362937:V111L;ENSP00000413644:V97L;ENSP00000394650:V80L	ENSP00000362937:V111L	V	+	1	0	RCC1	28731066	1.000000	0.71417	0.981000	0.43875	0.999000	0.98932	9.324000	0.96373	2.784000	0.95788	0.650000	0.86243	GTG	-	RCC1	-	pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens		0.607	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RCC1	HGNC	protein_coding	OTTHUMT00000010323.3	0	0	0	63	63	70	0.00	0.00	G	NM_001269		28858479	+1	25	28	38	34	tier1	no_errors	ENST00000373831	ensembl	human	known	74_37	missense	39.68	45.16	SNP	1.000	T	25	38
SLFN12L	100506736	genome.wustl.edu	37	17	33806526	33806526	+	Nonsense_Mutation	SNP	G	G	A			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr17:33806526G>A	ENST00000260908.7	-	2	820	c.703C>T	c.(703-705)Cga>Tga	p.R235*	RP11-686D22.9_ENST00000587076.1_RNA|SLFN12L_ENST00000361112.4_Nonsense_Mutation_p.R264*|SLFN12L_ENST00000449046.1_Nonsense_Mutation_p.R266*	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	235						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TCTGTAATTCGTTGTAACAAC	0.313													ENSG00000205045																																					0													112.0	90.0	97.0					17																	33806526		692	1590	2282	SO:0001587	stop_gained	0			-	AK172761	CCDS56026.1	17q12	2011-05-24				ENSG00000205045			33920	protein-coding gene	gene with protein product		614956				9846487	Standard	NM_001195790		Approved		uc021tuy.1	Q6IEE8		ENST00000260908.7:c.703C>T	17.37:g.33806526G>A	ENSP00000437635:p.Arg235*		F5H6G3	Nonsense_Mutation	SNP	pfam_ATPase_AAA-4	p.R266*	ENST00000260908.7	37	c.796	CCDS56026.1	17	.	.	.	.	.	.	.	.	.	.	G	41	8.939927	0.99010	.	.	ENSG00000205045	ENST00000260908;ENST00000361112;ENST00000449046	.	.	.	2.62	-1.25	0.09405	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.2986	0.04156	0.3031:0.0:0.4575:0.2393	.	.	.	.	X	235;264;266	.	ENSP00000437635:R235X	R	-	1	2	SLFN12L	30830639	0.000000	0.05858	0.000000	0.03702	0.166000	0.22503	-1.111000	0.03303	0.015000	0.14971	0.411000	0.27672	CGA	-	SLFN12L	-	pfam_ATPase_AAA-4		0.313	SLFN12L-004	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	SLFN12L	HGNC	protein_coding	OTTHUMT00000395748.2	0	0	0	62	62	132	0.00	0.00	G	XM_496206		33806526	-1	42	45	44	58	tier1	no_errors	ENST00000449046	ensembl	human	known	74_37	nonsense	48.84	43.69	SNP	0.000	A	42	44
LRRFIP2	9209	genome.wustl.edu	37	3	37096646	37096646	+	Silent	SNP	A	A	G	rs201693185		TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr3:37096646A>G	ENST00000336686.4	-	26	1961	c.1881T>C	c.(1879-1881)aaT>aaC	p.N627N	LRRFIP2_ENST00000354379.4_Silent_p.N306N|LRRFIP2_ENST00000421276.2_Silent_p.N330N|LRRFIP2_ENST00000396428.2_Silent_p.N409N|MLH1_ENST00000536378.1_Intron|LRRFIP2_ENST00000440230.1_Silent_p.N330N|LRRFIP2_ENST00000421307.1_Silent_p.N627N			Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	627					Wnt signaling pathway (GO:0016055)		LRR domain binding (GO:0030275)	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						TAATTTGTCTATTGGCATCTC	0.388													ENSG00000093167																																					1	Whole gene deletion(1)	ovary(1)											221.0	221.0	221.0					3																	37096646		2201	4299	6500	SO:0001819	synonymous_variant	0			-	AF115509	CCDS2664.1, CCDS2665.1, CCDS46791.1, CCDS63592.1	3p22.1	2008-07-18			ENSG00000093167	ENSG00000093167			6703	protein-coding gene	gene with protein product		614043				10366446	Standard	NM_017724		Approved	HUFI-2	uc003cgp.2	Q9Y608	OTTHUMG00000130796	ENST00000336686.4:c.1881T>C	3.37:g.37096646A>G			A8K649|A8MXR0|B4DY63|Q68CV3|Q9NXH5	Silent	SNP	pfam_Leu-rich_rep_flightless-int_pr,superfamily_bHLH_dom,superfamily_Prefoldin	p.N627	ENST00000336686.4	37	c.1881	CCDS2664.1	3																																																																																			rs201693185	LRRFIP2	-	pfam_Leu-rich_rep_flightless-int_pr,superfamily_Prefoldin		0.388	LRRFIP2-001	KNOWN	basic|CCDS	protein_coding	LRRFIP2	HGNC	protein_coding	OTTHUMT00000253335.3	0	0	0	30	30	91	0.00	0.00	A	NM_006309		37096646	-1	19	35	28	41	tier1	no_errors	ENST00000336686	ensembl	human	known	74_37	silent	40.43	46.05	SNP	0.995	G	19	28
NRXN1	9378	genome.wustl.edu	37	2	50148734	50148734	+	3'UTR	SNP	G	G	T			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr2:50148734G>T	ENST00000406316.2	-	0	6258				NRXN1_ENST00000401710.1_3'UTR|NRXN1_ENST00000404971.1_3'UTR|NRXN1_ENST00000342183.5_3'UTR	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1						adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTTTGTGTTGGTTTTTGTGTT	0.413													ENSG00000179915																																					0																																										SO:0001624	3_prime_UTR_variant	0			-	AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.*348C>A	2.37:g.50148734G>T			A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	R	SNP	-	NULL	ENST00000406316.2	37	NULL	CCDS54360.1	2																																																																																			-	NRXN1	-	-		0.413	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	0	0	0	93	93	168	0.00	0.00	G			50148734	-1	42	55	59	45	tier1	no_errors	ENST00000484192	ensembl	human	known	74_37	rna	41.58	55.00	SNP	0.985	T	42	59
LOXL2	4017	genome.wustl.edu	37	8	23225664	23225664	+	Silent	SNP	G	G	A			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr8:23225664G>A	ENST00000389131.3	-	2	570	c.201C>T	c.(199-201)caC>caT	p.H67H	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	67	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				aging (GO:0007568)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|collagen fibril organization (GO:0030199)|endothelial cell migration (GO:0043542)|endothelial cell proliferation (GO:0001935)|epithelial to mesenchymal transition (GO:0001837)|histone modification (GO:0016570)|negative regulation of transcription, DNA-templated (GO:0045892)|oxidation-reduction process (GO:0055114)|positive regulation of chondrocyte differentiation (GO:0032332)|protein deamination (GO:0018277)|response to copper ion (GO:0046688)|response to hypoxia (GO:0001666)|sprouting angiogenesis (GO:0002040)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|chromosome (GO:0005694)|extracellular space (GO:0005615)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|electron carrier activity (GO:0009055)|methylated histone binding (GO:0035064)|oligosaccharide binding (GO:0070492)|protein-lysine 6-oxidase activity (GO:0004720)|scavenger receptor activity (GO:0005044)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GGCCCTCGCTGTGCTTCCTCT	0.652													ENSG00000134013																																					0													73.0	62.0	65.0					8																	23225664		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U89942	CCDS34864.1	8p21.3	2008-05-15				ENSG00000134013			6666	protein-coding gene	gene with protein product		606663				9722957	Standard	NM_002318		Approved	WS9-14	uc003xdh.1	Q9Y4K0		ENST00000389131.3:c.201C>T	8.37:g.23225664G>A			B2R5Q0|Q53HV3|Q9BW70|Q9Y5Y8	Silent	SNP	pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR	p.H67	ENST00000389131.3	37	c.201	CCDS34864.1	8																																																																																			-	LOXL2	-	pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR		0.652	LOXL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOXL2	HGNC	protein_coding	OTTHUMT00000375603.1	0	0	0	62	62	60	0.00	0.00	G			23225664	-1	36	8	39	26	tier1	no_errors	ENST00000389131	ensembl	human	known	74_37	silent	48.00	23.53	SNP	1.000	A	36	39
KCNJ2	3759	genome.wustl.edu	37	17	68172115	68172115	+	Missense_Mutation	SNP	G	G	A			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr17:68172115G>A	ENST00000243457.3	+	2	1318	c.935G>A	c.(934-936)cGt>cAt	p.R312H	KCNJ2_ENST00000535240.1_Missense_Mutation_p.R312H	NM_000891.2	NP_000882.1	P63252	KCNJ2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	312					cardiac muscle cell action potential involved in contraction (GO:0086002)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|magnesium ion transport (GO:0015693)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane repolarization during action potential (GO:0086011)|membrane repolarization during cardiac muscle cell action potential (GO:0086013)|positive regulation of potassium ion transmembrane transport (GO:1901381)|potassium ion import (GO:0010107)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of membrane repolarization (GO:0060306)|regulation of resting membrane potential (GO:0060075)|regulation of skeletal muscle contraction via regulation of action potential (GO:0014861)|relaxation of cardiac muscle (GO:0055119)|relaxation of skeletal muscle (GO:0090076)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of membrane (GO:0031224)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|voltage-gated potassium channel activity involved in cardiac muscle cell action potential repolarization (GO:0086008)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					ACACAGTGCCGTAGCTCTTAT	0.468													ENSG00000123700																																					0													61.0	63.0	62.0					17																	68172115		2203	4300	6503	SO:0001583	missense	0			-	AF011904	CCDS11688.1	17q24.3	2014-09-17				ENSG00000123700		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6263	protein-coding gene	gene with protein product		600681				7696590, 11240146, 16382105	Standard	NM_000891		Approved	Kir2.1, IRK1, LQT7	uc002jir.3	P63252		ENST00000243457.3:c.935G>A	17.37:g.68172115G>A	ENSP00000243457:p.Arg312His		O15110|P48049	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.1	p.R312H	ENST00000243457.3	37	c.935	CCDS11688.1	17	.	.	.	.	.	.	.	.	.	.	G	22.2	4.252522	0.80135	.	.	ENSG00000123700	ENST00000535240;ENST00000243457	D;D	0.94897	-3.55;-3.55	5.77	5.77	0.91146	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98513	0.9504	H	0.97440	4.005	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98959	1.0797	9	.	.	.	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	312	P63252	IRK2_HUMAN	H	312	ENSP00000441848:R312H;ENSP00000243457:R312H	.	R	+	2	0	KCNJ2	65683710	1.000000	0.71417	0.984000	0.44739	0.880000	0.50808	9.813000	0.99286	2.885000	0.99019	0.655000	0.94253	CGT	-	KCNJ2	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir		0.468	KCNJ2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KCNJ2	HGNC	protein_coding	OTTHUMT00000450889.1	0	0	0	56	56	66	0.00	0.00	G	NM_000891		68172115	+1	23	34	29	30	tier1	no_errors	ENST00000243457	ensembl	human	known	74_37	missense	44.23	53.12	SNP	1.000	A	23	29
FBN2	2201	genome.wustl.edu	37	5	127713448	127713448	+	Missense_Mutation	SNP	C	C	T			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr5:127713448C>T	ENST00000508053.1	-	19	2820	c.1846G>A	c.(1846-1848)Gtt>Att	p.V616I	FBN2_ENST00000508989.1_Missense_Mutation_p.V583I|FBN2_ENST00000511489.1_5'UTR|FBN2_ENST00000262464.4_Missense_Mutation_p.V616I			P35556	FBN2_HUMAN	fibrillin 2	616	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				anatomical structure morphogenesis (GO:0009653)|bone trabecula formation (GO:0060346)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of bone mineralization (GO:0030501)|positive regulation of osteoblast differentiation (GO:0045669)|sequestering of TGFbeta in extracellular matrix (GO:0035583)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCCATACCAACACAGTTTTTT	0.388													ENSG00000138829																																					0													142.0	146.0	144.0					5																	127713448		2203	4300	6503	SO:0001583	missense	0			-	U03272	CCDS34222.1	5q23-q31	2008-08-01	2008-08-01			ENSG00000138829			3604	protein-coding gene	gene with protein product	"""fibrillin 5"""	612570	"""congenital contractural arachnodactyly"""	CCA		1852206, 8120105	Standard	NM_001999		Approved	DA9	uc003kuu.3	P35556		ENST00000508053.1:c.1846G>A	5.37:g.127713448C>T	ENSP00000424571:p.Val616Ile		B4DU01|Q59ES6	Missense_Mutation	SNP	pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.V616I	ENST00000508053.1	37	c.1846	CCDS34222.1	5	.	.	.	.	.	.	.	.	.	.	C	12.14	1.849620	0.32699	.	.	ENSG00000138829	ENST00000262464;ENST00000508053;ENST00000508989	D;D;D	0.87256	-2.23;-2.23;-2.23	4.21	4.21	0.49690	EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.64402	D	0.000018	D	0.89065	0.6609	L	0.37466	1.105	0.31154	N	0.705108	B;P	0.50156	0.091;0.932	B;P	0.61592	0.079;0.891	D	0.86131	0.1575	10	0.30854	T	0.27	.	17.8845	0.88850	0.0:1.0:0.0:0.0	.	583;616	D6RJI3;P35556	.;FBN2_HUMAN	I	616;616;583	ENSP00000262464:V616I;ENSP00000424571:V616I;ENSP00000425596:V583I	ENSP00000262464:V616I	V	-	1	0	FBN2	127741347	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.322000	0.33689	2.648000	0.89879	0.655000	0.94253	GTT	-	FBN2	-	pirsf_FBN,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom		0.388	FBN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN2	HGNC	protein_coding	OTTHUMT00000371618.2	0	0	0	70	70	121	0.00	0.00	C	NM_001999		127713448	-1	28	64	47	63	tier1	no_errors	ENST00000262464	ensembl	human	known	74_37	missense	37.33	49.61	SNP	1.000	T	28	47
GPR110	266977	genome.wustl.edu	37	6	46991854	46991854	+	Missense_Mutation	SNP	G	G	A	rs200254260		TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr6:46991854G>A	ENST00000371253.2	-	5	592	c.377C>T	c.(376-378)aCg>aTg	p.T126M	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000371243.2_Missense_Mutation_p.T126M	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	126					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						TGCTCCAGCCGTGTGAAGGTA	0.507													ENSG00000153292	G|||	1	0.000199681	0.0	0.0	5008	,	,		19636	0.0		0.001	False		,,,				2504	0.0																0													133.0	107.0	116.0					6																	46991854		2203	4300	6503	SO:0001583	missense	0			GMAF=0.0005	AB083618	CCDS4920.1, CCDS34471.1	6p21.1	2014-08-08			ENSG00000153292	ENSG00000153292		"""-"", ""GPCR / Class B : Orphans"""	18990	protein-coding gene	gene with protein product						12435584, 14623098	Standard	XM_005249006		Approved	hGPCR36, PGR19	uc003oyt.3	Q5T601	OTTHUMG00000014795	ENST00000371253.2:c.377C>T	6.37:g.46991854G>A	ENSP00000360299:p.Thr126Met		Q5KU15|Q5T5Z9|Q5T600|Q86SM1|Q8IXE3|Q8IZF8|Q96DQ1|Q9H615	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt	p.T126M	ENST00000371253.2	37	c.377	CCDS34471.1	6	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	3.862	-0.029771	0.07589	.	.	ENSG00000153292	ENST00000371252;ENST00000371253;ENST00000371243	T	0.34667	1.35	5.51	-4.45	0.03546	.	0.774716	0.11793	N	0.528966	T	0.07954	0.0199	L	0.53249	1.67	0.23519	N	0.997509	B;B	0.33694	0.421;0.166	B;B	0.21360	0.034;0.007	T	0.13980	-1.0489	10	0.44086	T	0.13	0.2375	0.85	0.01170	0.4025:0.1169:0.2197:0.2609	.	126;126	Q5T601-2;Q5T601	.;GP110_HUMAN	M	126	ENSP00000360299:T126M	ENSP00000360289:T126M	T	-	2	0	GPR110	47099813	0.000000	0.05858	0.001000	0.08648	0.051000	0.14879	-0.674000	0.05233	-0.469000	0.06911	-0.140000	0.14226	ACG	rs200254260	GPR110	-	NULL		0.507	GPR110-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR110	HGNC	protein_coding	OTTHUMT00000040810.2	0	0	0	57	57	108	0.00	0.00	G	NM_153840		46991854	-1	27	53	37	59	tier1	no_errors	ENST00000371253	ensembl	human	known	74_37	missense	42.19	47.32	SNP	0.001	A	27	37
TAF1	6872	genome.wustl.edu	37	X	70587351	70587351	+	Missense_Mutation	SNP	A	A	T			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chrX:70587351A>T	ENST00000373790.4	+	2	234	c.183A>T	c.(181-183)gaA>gaT	p.E61D	TAF1_ENST00000423759.1_Missense_Mutation_p.E61D|TAF1_ENST00000276072.3_Missense_Mutation_p.E61D|TAF1_ENST00000449580.1_Missense_Mutation_p.E61D	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	61	Protein kinase 1.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TTTTTCAGGAATGTAAGAAGC	0.517													ENSG00000147133																																					0													89.0	71.0	77.0					X																	70587351		2203	4300	6503	SO:0001583	missense	0			-		CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.183A>T	X.37:g.70587351A>T	ENSP00000362895:p.Glu61Asp		A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.E61D	ENST00000373790.4	37	c.183	CCDS35325.1	X	.	.	.	.	.	.	.	.	.	.	.	19.36	3.812109	0.70797	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.13196	2.61;2.68;2.7;2.64	4.51	-0.246	0.13022	TAFII-230 TBP-binding (2);	0.000000	0.85682	D	0.000000	T	0.13841	0.0335	L	0.33485	1.01	0.49213	D	0.999763	B;P	0.40970	0.085;0.734	B;P	0.47915	0.054;0.561	T	0.03384	-1.1042	10	0.59425	D	0.04	.	9.0001	0.36077	0.7387:0.0:0.2613:0.0	.	61;61	P21675;P21675-2	TAF1_HUMAN;.	D	61	ENSP00000362895:E61D;ENSP00000389000:E61D;ENSP00000406549:E61D;ENSP00000276072:E61D	ENSP00000276072:E61D	E	+	3	2	TAF1	70504076	1.000000	0.71417	0.996000	0.52242	0.985000	0.73830	1.476000	0.35420	-0.077000	0.12752	-0.283000	0.09986	GAA	-	TAF1	-	pirsf_TAF1_animal,pfam_TAF_II_230-bd,superfamily_TAF_II_230-bd		0.517	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	HGNC	protein_coding	OTTHUMT00000058995.2	0	0	0	60	60	138	0.00	0.00	A	NM_004606		70587351	+1	17	59	44	80	tier1	no_errors	ENST00000449580	ensembl	human	known	74_37	missense	27.87	42.45	SNP	0.997	T	17	44
COL20A1	57642	genome.wustl.edu	37	20	61952385	61952385	+	Silent	SNP	C	C	T	rs115782548	byFrequency	TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr20:61952385C>T	ENST00000358894.6	+	26	3274	c.3174C>T	c.(3172-3174)ccC>ccT	p.P1058P	COL20A1_ENST00000326996.6_Silent_p.P1058P|COL20A1_ENST00000435874.1_Silent_p.P1065P|COL20A1_ENST00000422202.1_Silent_p.P1065P	NM_020882.2	NP_065933.2	Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1058					extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)				NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					AGACCTGCCCCGCCTTCGTGT	0.612													ENSG00000101203																																					0													24.0	29.0	27.0					20																	61952385		1886	4092	5978	SO:0001819	synonymous_variant	0			-	BC043183	CCDS46628.1	20q13.33	2014-02-12			ENSG00000101203	ENSG00000101203		"""Collagens"", ""Fibronectin type III domain containing"""	14670	protein-coding gene	gene with protein product						10819331	Standard	NM_020882		Approved	KIAA1510	uc011aau.2	Q9P218	OTTHUMG00000032964	ENST00000358894.6:c.3174C>T	20.37:g.61952385C>T			Q4VXQ4|Q6PI59|Q8WUT2|Q96CY9|Q9BQU6|Q9BQU7	Silent	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.P1058	ENST00000358894.6	37	c.3174	CCDS46628.1	20																																																																																			-	COL20A1	-	NULL		0.612	COL20A1-006	KNOWN	basic|CCDS	protein_coding	COL20A1	HGNC	protein_coding	OTTHUMT00000144595.2	1	1	0	146	146	63	0.68	0.00	C	NM_020882		61952385	+1	82	30	81	25	tier1	no_errors	ENST00000326996	ensembl	human	known	74_37	silent	50.31	53.57	SNP	0.008	T	82	81
YEATS2	55689	genome.wustl.edu	37	3	183495458	183495458	+	Missense_Mutation	SNP	C	C	G			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr3:183495458C>G	ENST00000305135.5	+	19	2901	c.2706C>G	c.(2704-2706)atC>atG	p.I902M		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	902					chromatin organization (GO:0006325)|histone H3 acetylation (GO:0043966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|mitotic spindle (GO:0072686)	TBP-class protein binding (GO:0017025)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TAAAAGTCATCTCTGGACAGA	0.438													ENSG00000163872																																					0													89.0	86.0	87.0					3																	183495458		2062	4224	6286	SO:0001583	missense	0			-	AB033023	CCDS43175.1	3q27.3	2004-08-18			ENSG00000163872	ENSG00000163872			25489	protein-coding gene	gene with protein product		613373				10574462	Standard	NM_018023		Approved	FLJ10201, FLJ12841, FLJ13308, KIAA1197	uc003fly.2	Q9ULM3	OTTHUMG00000156898	ENST00000305135.5:c.2706C>G	3.37:g.183495458C>G	ENSP00000306983:p.Ile902Met		A7E2B9|D3DNS9|Q641P6|Q9NW96	Missense_Mutation	SNP	pfam_YEATS,pfscan_YEATS	p.I902M	ENST00000305135.5	37	c.2706	CCDS43175.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.55|16.55	3.154720|3.154720	0.57259|0.57259	.|.	.|.	ENSG00000163872|ENSG00000163872	ENST00000421660;ENST00000305135|ENST00000432781	T|.	0.23348|.	1.91|.	5.68|5.68	3.88|3.88	0.44766|0.44766	.|.	0.063063|.	0.64402|.	D|.	0.000007|.	T|T	0.29556|0.29556	0.0737|0.0737	N|N	0.24115|0.24115	0.695|0.695	0.29492|0.29492	N|N	0.855548|0.855548	D|.	0.67145|.	0.996|.	P|.	0.59703|.	0.862|.	T|T	0.19582|0.19582	-1.0301|-1.0301	10|5	0.72032|.	D|.	0.01|.	-21.8247|-21.8247	6.6736|6.6736	0.23082|0.23082	0.1812:0.6628:0.0:0.156|0.1812:0.6628:0.0:0.156	.|.	902|.	Q9ULM3|.	YETS2_HUMAN|.	M|V	902|88	ENSP00000306983:I902M|.	ENSP00000306983:I902M|.	I|L	+|+	3|1	3|0	YEATS2|YEATS2	184978152|184978152	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.937000|0.937000	0.57800|0.57800	0.557000|0.557000	0.23454|0.23454	1.376000|1.376000	0.46267|0.46267	0.655000|0.655000	0.94253|0.94253	ATC|CTC	-	YEATS2	-	NULL		0.438	YEATS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YEATS2	HGNC	protein_coding	OTTHUMT00000346507.2	0	0	0	73	73	167	0.00	0.00	C	NM_018023		183495458	+1	37	55	42	74	tier1	no_errors	ENST00000305135	ensembl	human	known	74_37	missense	46.84	42.31	SNP	1.000	G	37	42
ZNF114	163071	genome.wustl.edu	37	19	48789076	48789076	+	Missense_Mutation	SNP	A	A	T			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr19:48789076A>T	ENST00000595607.1	+	6	689	c.195A>T	c.(193-195)aaA>aaT	p.K65N	ZNF114_ENST00000597695.1_Missense_Mutation_p.K31N|ZNF114_ENST00000315849.1_Missense_Mutation_p.K65N|ZNF114_ENST00000600687.1_Missense_Mutation_p.K65N			Q8NC26	ZN114_HUMAN	zinc finger protein 114	65	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(6)|lung(11)	18		all_epithelial(76;8.01e-05)|all_lung(116;0.000112)|Lung NSC(112;0.000192)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;7.56e-05)|all cancers(93;0.000113)|Epithelial(262;0.00962)|GBM - Glioblastoma multiforme(486;0.0153)		TTCTTCCTAAAAGAACATTTC	0.443													ENSG00000178150																																					0													91.0	84.0	86.0					19																	48789076		2203	4300	6503	SO:0001583	missense	0			-	BC014935	CCDS12713.1, CCDS74412.1	19q13.32	2013-01-08			ENSG00000178150	ENSG00000178150		"""Zinc fingers, C2H2-type"", ""-"""	12894	protein-coding gene	gene with protein product		603996					Standard	XM_005258580		Approved	MGC17986	uc002pim.1	Q8NC26		ENST00000595607.1:c.195A>T	19.37:g.48789076A>T	ENSP00000469998:p.Lys65Asn		A8K6B0|Q08AQ6	Missense_Mutation	SNP	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K65N	ENST00000595607.1	37	c.195	CCDS12713.1	19	.	.	.	.	.	.	.	.	.	.	A	9.460	1.092844	0.20471	.	.	ENSG00000178150	ENST00000315849	T	0.05081	3.5	1.98	-0.171	0.13331	Krueppel-associated box (1);	.	.	.	.	T	0.03695	0.0105	N	0.08118	0	0.09310	N	1	D	0.59357	0.985	P	0.47827	0.558	T	0.41395	-0.9511	9	0.17832	T	0.49	.	5.4509	0.16565	0.6977:0.0:0.3023:0.0	.	65	Q8NC26	ZN114_HUMAN	N	65	ENSP00000318898:K65N	ENSP00000318898:K65N	K	+	3	2	ZNF114	53480888	0.000000	0.05858	0.000000	0.03702	0.209000	0.24338	0.638000	0.24674	-0.119000	0.11830	0.338000	0.21704	AAA	-	ZNF114	-	pfscan_Krueppel-associated_box		0.443	ZNF114-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF114	HGNC	protein_coding	OTTHUMT00000465601.1	0	0	0	59	59	145	0.00	0.00	A	NM_153608		48789076	+1	40	63	36	60	tier1	no_errors	ENST00000315849	ensembl	human	known	74_37	missense	52.63	50.00	SNP	0.000	T	40	36
OR5AS1	219447	genome.wustl.edu	37	11	55798441	55798441	+	Missense_Mutation	SNP	C	C	A			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr11:55798441C>A	ENST00000313555.1	+	1	547	c.547C>A	c.(547-549)Cct>Act	p.P183T		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	183						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TGATATCCCACCTCTTCTGGC	0.423													ENSG00000181785																																					0													283.0	280.0	281.0					11																	55798441		2201	4296	6497	SO:0001583	missense	0			-	AB065543	CCDS31516.1	11q11	2012-08-09			ENSG00000181785	ENSG00000181785		"""GPCR / Class A : Olfactory receptors"""	15261	protein-coding gene	gene with protein product							Standard	NM_001001921		Approved		uc010riw.2	Q8N127	OTTHUMG00000166830	ENST00000313555.1:c.547C>A	11.37:g.55798441C>A	ENSP00000324111:p.Pro183Thr		Q6IFB8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.P183T	ENST00000313555.1	37	c.547	CCDS31516.1	11	.	.	.	.	.	.	.	.	.	.	C	12.55	1.972077	0.34754	.	.	ENSG00000181785	ENST00000313555	T	0.00216	8.53	5.46	3.45	0.39498	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34628	U	0.003818	T	0.00552	0.0018	M	0.81942	2.565	0.20764	N	0.999852	D	0.89917	1.0	D	0.91635	0.999	T	0.34950	-0.9808	10	0.72032	D	0.01	.	12.9354	0.58311	0.2943:0.7057:0.0:0.0	.	183	Q8N127	O5AS1_HUMAN	T	183	ENSP00000324111:P183T	ENSP00000324111:P183T	P	+	1	0	OR5AS1	55555017	0.000000	0.05858	0.824000	0.32777	0.215000	0.24574	0.303000	0.19210	1.279000	0.44446	-0.195000	0.12781	CCT	-	OR5AS1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.423	OR5AS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AS1	HGNC	protein_coding	OTTHUMT00000391538.1	0	0	0	12	12	98	0.00	0.00	C	NM_001001921		55798441	+1	15	30	16	39	tier1	no_errors	ENST00000313555	ensembl	human	known	74_37	missense	48.39	43.48	SNP	0.576	A	15	16
SF1	7536	genome.wustl.edu	37	11	64544038	64544038	+	Missense_Mutation	SNP	G	G	A			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr11:64544038G>A	ENST00000377390.3	-	2	429	c.92C>T	c.(91-93)aCa>aTa	p.T31I	SF1_ENST00000422298.2_5'UTR|SF1_ENST00000377387.1_Missense_Mutation_p.T156I|SF1_ENST00000433274.2_Missense_Mutation_p.T5I|SF1_ENST00000377394.3_Missense_Mutation_p.T31I|SF1_ENST00000334944.5_Missense_Mutation_p.T31I|AP001462.6_ENST00000594089.1_lincRNA|SF1_ENST00000227503.9_Missense_Mutation_p.T31I	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	31					Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						TGGAATCACTGTCTTCTGTTC	0.428													ENSG00000168066																																					0													165.0	153.0	157.0					11																	64544038		2201	4297	6498	SO:0001583	missense	0			-	D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.92C>T	11.37:g.64544038G>A	ENSP00000366607:p.Thr31Ile		B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1	p.T31I	ENST00000377390.3	37	c.92	CCDS31599.1	11	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086311	0.55861	.	.	ENSG00000168066	ENST00000377387;ENST00000377390;ENST00000227503;ENST00000377394;ENST00000334944;ENST00000433274;ENST00000432725;ENST00000416674	T;T;T;T;T;T	0.48522	0.84;0.85;0.86;0.87;0.84;0.81	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.55210	0.1906	L	0.42581	1.335	0.80722	D	1	D;B;B;B;B;B	0.54964	0.969;0.291;0.291;0.192;0.291;0.291	P;B;B;B;B;B	0.54629	0.757;0.056;0.056;0.042;0.091;0.13	T	0.54490	-0.8286	10	0.49607	T	0.09	.	16.7043	0.85367	0.0:0.0:1.0:0.0	.	31;31;31;31;31;156	Q14820;Q15637-6;Q15637-4;Q15637;Q15637-2;Q15637-5	.;.;.;SF01_HUMAN;.;.	I	156;31;31;31;31;5;5;31	ENSP00000366604:T156I;ENSP00000366607:T31I;ENSP00000227503:T31I;ENSP00000366611:T31I;ENSP00000334414:T31I;ENSP00000396793:T5I	ENSP00000227503:T31I	T	-	2	0	SF1	64300614	1.000000	0.71417	0.983000	0.44433	0.956000	0.61745	7.619000	0.83057	2.540000	0.85666	0.563000	0.77884	ACA	-	SF1	-	NULL		0.428	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SF1	HGNC	protein_coding	OTTHUMT00000143242.1	0	0	0	64	64	105	0.00	0.00	G	NM_004630		64544038	-1	32	35	31	47	tier1	no_errors	ENST00000377390	ensembl	human	known	74_37	missense	50.79	42.68	SNP	0.998	A	32	31
STXBP5L	9515	genome.wustl.edu	37	3	120941941	120941941	+	Missense_Mutation	SNP	G	G	T			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr3:120941941G>T	ENST00000273666.6	+	11	1319	c.1048G>T	c.(1048-1050)Gta>Tta	p.V350L	STXBP5L_ENST00000497029.1_Missense_Mutation_p.V350L|STXBP5L_ENST00000472879.1_Missense_Mutation_p.V350L|STXBP5L_ENST00000492541.1_Missense_Mutation_p.V350L|STXBP5L_ENST00000471454.1_Missense_Mutation_p.V350L	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	350					exocytosis (GO:0006887)|glucose homeostasis (GO:0042593)|negative regulation of insulin secretion (GO:0046676)|positive regulation of protein secretion (GO:0050714)|protein transport (GO:0015031)|regulation of exocytosis (GO:0017157)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGCAATTACAGTACTTGAAAT	0.348													ENSG00000145087																																					0													150.0	143.0	145.0					3																	120941941		1874	4106	5980	SO:0001583	missense	0			-	AB023223	CCDS43137.1	3q13.33-q21.1	2013-01-10			ENSG00000145087	ENSG00000145087		"""WD repeat domain containing"""	30757	protein-coding gene	gene with protein product		609381				10231032, 14767561	Standard	NM_014980		Approved	KIAA1006, LLGL4	uc003eec.4	Q9Y2K9	OTTHUMG00000159426	ENST00000273666.6:c.1048G>T	3.37:g.120941941G>T	ENSP00000273666:p.Val350Leu		Q4G1B4|Q6PIC3	Missense_Mutation	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.V350L	ENST00000273666.6	37	c.1048	CCDS43137.1	3	.	.	.	.	.	.	.	.	.	.	G	21.8	4.199801	0.79015	.	.	ENSG00000145087	ENST00000273666;ENST00000471454;ENST00000472879;ENST00000497029;ENST00000492541;ENST00000471262	T;T;T;T;T;T	0.40756	1.71;1.72;1.52;1.02;1.51;1.72	4.5	4.5	0.54988	WD40 repeat-like-containing domain (1);Lethal giant larvae homologue 2 (1);	0.000000	0.85682	D	0.000000	T	0.62454	0.2429	M	0.62723	1.935	0.80722	D	1	B;D	0.71674	0.014;0.998	B;D	0.80764	0.03;0.994	T	0.66280	-0.5963	10	0.62326	D	0.03	-33.7259	17.3968	0.87448	0.0:0.0:1.0:0.0	.	350;350	E9PFI2;Q9Y2K9	.;STB5L_HUMAN	L	350	ENSP00000273666:V350L;ENSP00000420019:V350L;ENSP00000419627:V350L;ENSP00000420287:V350L;ENSP00000420666:V350L;ENSP00000420167:V350L	ENSP00000273666:V350L	V	+	1	0	STXBP5L	122424631	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.657000	0.98554	2.316000	0.78162	0.462000	0.41574	GTA	-	STXBP5L	-	pfam_LLGL2,superfamily_WD40_repeat_dom		0.348	STXBP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP5L	HGNC	protein_coding	OTTHUMT00000355256.3	0	0	0	35	35	153	0.00	0.00	G			120941941	+1	23	53	24	71	tier1	no_errors	ENST00000273666	ensembl	human	known	74_37	missense	48.94	42.74	SNP	1.000	T	23	24
ACSL4	2182	genome.wustl.edu	37	X	108904872	108904872	+	Missense_Mutation	SNP	G	G	A	rs122458138		TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chrX:108904872G>A	ENST00000469796.2	-	14	2104	c.1708C>T	c.(1708-1710)Cgt>Tgt	p.R570C	ACSL4_ENST00000340800.2_Missense_Mutation_p.R570C|ACSL4_ENST00000348502.6_Missense_Mutation_p.R529C			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	570			R -> S (in MRX63). {ECO:0000269|PubMed:11889465}.		cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	TCTTTCTTACGATCTGTTAAG	0.343													ENSG00000068366																									Pancreas(188;358 2127 38547 41466 45492)												0			GRCh37	CM020684	ACSL4	M	rs122458138						134.0	112.0	120.0					X																	108904872		2203	4299	6502	SO:0001583	missense	0			-	BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.1708C>T	X.37:g.108904872G>A	ENSP00000419171:p.Arg570Cys		D3DUY2|O60848|O60849|Q5JWV8	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.R570C	ENST00000469796.2	37	c.1708	CCDS14548.1	X	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627204	0.87560	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	T;T;T	0.60672	0.17;0.17;0.17	4.67	4.67	0.58626	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	D	0.88062	0.6336	H	0.99922	4.955	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.94281	0.7520	10	0.87932	D	0	-11.9297	17.1389	0.86748	0.0:0.0:1.0:0.0	.	570	O60488	ACSL4_HUMAN	C	529;570;570	ENSP00000262835:R529C;ENSP00000419171:R570C;ENSP00000339787:R570C	ENSP00000339787:R570C	R	-	1	0	ACSL4	108791528	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	7.841000	0.86834	2.055000	0.61198	0.506000	0.49869	CGT	-	ACSL4	-	pfam_AMP-dep_Synth/Lig		0.343	ACSL4-003	KNOWN	basic|CCDS	protein_coding	ACSL4	HGNC	protein_coding	OTTHUMT00000358155.2	0	0	0	39	39	108	0.00	0.00	G	NM_004458		108904872	-1	25	38	29	43	tier1	no_errors	ENST00000340800	ensembl	human	known	74_37	missense	46.30	46.91	SNP	1.000	A	25	29
ASPM	259266	genome.wustl.edu	37	1	197071130	197071130	+	Missense_Mutation	SNP	C	C	A			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	C	C	C	A	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr1:197071130C>A	ENST00000367409.4	-	18	7507	c.7251G>T	c.(7249-7251)agG>agT	p.R2417S	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2417	IQ 25. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATGATCTAAACCTACTCTGAA	0.393													ENSG00000066279																																					0													112.0	115.0	114.0					1																	197071130		2203	4299	6502	SO:0001583	missense	0			-	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.7251G>T	1.37:g.197071130C>A	ENSP00000356379:p.Arg2417Ser		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.R2417S	ENST00000367409.4	37	c.7251	CCDS1389.1	1	.	.	.	.	.	.	.	.	.	.	c	8.424	0.847121	0.17034	.	.	ENSG00000066279	ENST00000367409;ENST00000367406	T	0.72167	-0.63	4.13	0.467	0.16721	.	0.722320	0.13128	N	0.411644	T	0.73426	0.3585	L	0.60012	1.86	0.80722	D	1	P;B	0.49358	0.923;0.236	D;B	0.69824	0.966;0.349	T	0.68981	-0.5266	10	0.22109	T	0.4	.	1.3491	0.02169	0.1437:0.3672:0.142:0.347	.	403;2417	E7EQ84;Q8IZT6	.;ASPM_HUMAN	S	2417;403	ENSP00000356379:R2417S	ENSP00000356376:R403S	R	-	3	2	ASPM	195337753	0.000000	0.05858	0.131000	0.22000	0.994000	0.84299	-0.457000	0.06745	0.341000	0.23771	0.558000	0.71614	AGG	-	ASPM	-	pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS		0.393	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	0	0	0	54	54	134	0.00	0.00	C	NM_018136		197071130	-1	54	129	25	67	tier1	no_errors	ENST00000367409	ensembl	human	known	74_37	missense	68.35	65.82	SNP	0.022	A	54	25
TTN	7273	genome.wustl.edu	37	2	179416435	179416435	+	Missense_Mutation	SNP	G	G	C			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	G	G	G	C	G	G	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr2:179416435G>C	ENST00000591111.1	-	285	86493	c.86269C>G	c.(86269-86271)Cgt>Ggt	p.R28757G	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R27830G|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R30398G|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R21458G|TTN_ENST00000460472.2_Missense_Mutation_p.R21333G|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R21525G|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28757	Fibronectin type-III 109. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCATATACACGGAATTGGTAA	0.393													ENSG00000155657																																					0													129.0	124.0	125.0					2																	179416435		1854	4108	5962	SO:0001583	missense	0			-	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.86269C>G	2.37:g.179416435G>C	ENSP00000465570:p.Arg28757Gly		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.R27830G	ENST00000591111.1	37	c.83488		2	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605754	0.46527	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.60797	0.16;0.16;0.16;0.16	5.75	5.75	0.90469	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.85600	0.5734	H	0.98833	4.345	0.58432	D	0.999994	D;D;D;D	0.56287	0.975;0.975;0.975;0.975	P;P;P;P	0.60682	0.878;0.878;0.878;0.878	D	0.91056	0.4882	9	0.87932	D	0	.	19.94	0.97155	0.0:0.0:1.0:0.0	.	21333;21458;21525;28757	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	27830;21333;21525;21458;21330	ENSP00000343764:R27830G;ENSP00000434586:R21333G;ENSP00000340554:R21525G;ENSP00000352154:R21458G	ENSP00000340554:R21525G	R	-	1	0	TTN	179124681	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.074000	0.76791	2.721000	0.93114	0.650000	0.86243	CGT	-	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	0	0	0	62	62	207	0.00	0.00	G	NM_133378		179416435	-1	32	53	35	76	tier1	no_errors	ENST00000342992	ensembl	human	known	74_37	missense	47.76	40.77	SNP	1.000	C	32	35
MORC2	22880	genome.wustl.edu	37	22	31328907	31328907	+	Missense_Mutation	SNP	C	C	T			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr22:31328907C>T	ENST00000397641.3	-	22	2899	c.2491G>A	c.(2491-2493)Gtg>Atg	p.V831M	MORC2-AS1_ENST00000441558.1_RNA|MORC2_ENST00000215862.4_Missense_Mutation_p.V769M			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2	831						cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						TCTGTGGGCACGTAGTCAAAC	0.622													ENSG00000133422																																					0													253.0	228.0	236.0					22																	31328907		2203	4300	6503	SO:0001583	missense	0			-	AB020659	CCDS33636.1	22q12.2	2005-06-15	2005-06-15	2005-06-15	ENSG00000133422	ENSG00000133422			23573	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 1"", ""zinc finger, CW type with coiled-coil domain 1"""	ZCWCC1		14607086	Standard	XM_005261391		Approved	ZCW3, KIAA0852, AC004542.C22.1	uc003aje.1	Q9Y6X9	OTTHUMG00000151193	ENST00000397641.3:c.2491G>A	22.37:g.31328907C>T	ENSP00000380763:p.Val831Met		B2RNB1|Q9UF28|Q9Y6V2	Missense_Mutation	SNP	pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,superfamily_Carb-bd_dom,pfscan_Znf_CW	p.V831M	ENST00000397641.3	37	c.2491		22	.	.	.	.	.	.	.	.	.	.	C	22.0	4.223703	0.79576	.	.	ENSG00000133422	ENST00000397641;ENST00000215862	T;T	0.14144	2.53;2.53	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.32346	0.0826	L	0.44542	1.39	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.00201	-1.1926	10	0.30854	T	0.27	.	20.3854	0.98941	0.0:1.0:0.0:0.0	.	831	Q9Y6X9	MORC2_HUMAN	M	831;769	ENSP00000380763:V831M;ENSP00000215862:V769M	ENSP00000215862:V769M	V	-	1	0	MORC2	29658907	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.487000	0.81328	2.825000	0.97269	0.655000	0.94253	GTG	-	MORC2	-	NULL		0.622	MORC2-001	KNOWN	basic|appris_principal	protein_coding	MORC2	HGNC	protein_coding	OTTHUMT00000321710.2	0	0	0	49	49	110	0.00	0.00	C	NM_014941		31328907	-1	26	40	41	52	tier1	no_errors	ENST00000397641	ensembl	human	known	74_37	missense	38.81	43.48	SNP	1.000	T	26	41
PRADC1	84279	genome.wustl.edu	37	2	73455974	73455974	+	Missense_Mutation	SNP	C	C	G			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr2:73455974C>G	ENST00000258083.2	-	4	462	c.395G>C	c.(394-396)aGt>aCt	p.S132T	PRADC1_ENST00000480093.1_Intron	NM_032319.1	NP_115695.1	Q9BSG0	PADC1_HUMAN	protease-associated domain containing 1	132	PA.					extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				endometrium(1)|large_intestine(1)|lung(2)	4						GCGCTGGGTACTGTCCTGGAT	0.622													ENSG00000135617																																					0													43.0	38.0	39.0					2																	73455974		2203	4300	6503	SO:0001583	missense	0			-	BC005069	CCDS1924.1	2p13.2	2012-10-31	2011-04-15	2011-04-15	ENSG00000135617	ENSG00000135617			16047	protein-coding gene	gene with protein product	"""protease-associated domain-containing glycoprotein 21 kDa"""		"""chromosome 2 open reading frame 7"""	C2orf7		15498570	Standard	NM_032319		Approved	MGC13004, PAP21, hPAP21	uc002siy.3	Q9BSG0	OTTHUMG00000129773	ENST00000258083.2:c.395G>C	2.37:g.73455974C>G	ENSP00000258083:p.Ser132Thr		Q2Z1P2	Missense_Mutation	SNP	pfam_Protease-assoc_domain	p.S132T	ENST00000258083.2	37	c.395	CCDS1924.1	2	.	.	.	.	.	.	.	.	.	.	C	13.51	2.259574	0.39995	.	.	ENSG00000135617	ENST00000258083	T	0.43294	0.95	4.64	4.64	0.57946	Protease-associated domain, PA (1);	0.110172	0.64402	D	0.000007	T	0.38639	0.1048	L	0.54965	1.715	0.42369	D	0.992443	B	0.23650	0.089	B	0.28553	0.091	T	0.28396	-1.0045	10	0.42905	T	0.14	-12.2771	10.2533	0.43381	0.0:0.9077:0.0:0.0923	.	132	Q9BSG0	PADC1_HUMAN	T	132	ENSP00000258083:S132T	ENSP00000258083:S132T	S	-	2	0	PRADC1	73309482	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.837000	0.62796	2.576000	0.86940	0.655000	0.94253	AGT	-	PRADC1	-	pfam_Protease-assoc_domain		0.622	PRADC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRADC1	HGNC	protein_coding	OTTHUMT00000251989.1	0	0	0	53	53	70	0.00	0.00	C	NM_032319		73455974	-1	28	30	35	31	tier1	no_errors	ENST00000258083	ensembl	human	known	74_37	missense	44.44	49.18	SNP	1.000	G	28	35
CFP	5199	genome.wustl.edu	37	X	47486725	47486725	+	Missense_Mutation	SNP	C	C	T			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chrX:47486725C>T	ENST00000396992.3	-	5	701	c.581G>A	c.(580-582)gGg>gAg	p.G194E	CFP_ENST00000480317.1_5'Flank|CFP_ENST00000247153.3_Missense_Mutation_p.G194E|CFP_ENST00000377005.2_Missense_Mutation_p.G194E	NM_001145252.1	NP_001138724.1	P27918	PROP_HUMAN	complement factor properdin	194	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|defense response to bacterium (GO:0042742)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						GGCCCAGGCCCCGTGTGCTGT	0.652													ENSG00000126759																																					0													24.0	27.0	26.0					X																	47486725		2194	4279	6473	SO:0001583	missense	0			-	M83652	CCDS14282.1	Xp11.4	2014-09-17	2006-03-02	2006-03-02	ENSG00000126759	ENSG00000126759		"""Complement system"""	8864	protein-coding gene	gene with protein product		300383	"""properdin P factor, complement"""	PFC		1783405	Standard	NM_001145252		Approved		uc004dih.3	P27918	OTTHUMG00000021451	ENST00000396992.3:c.581G>A	X.37:g.47486725C>T	ENSP00000380189:p.Gly194Glu		O15134|O15135|O15136|O75826	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.G194E	ENST00000396992.3	37	c.581	CCDS14282.1	X	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745191	0.69418	.	.	ENSG00000126759	ENST00000396992;ENST00000247153;ENST00000377005;ENST00000469388	T;T;T;T	0.62364	0.03;0.03;0.03;0.03	5.63	5.63	0.86233	.	0.183427	0.46442	D	0.000288	D	0.86477	0.5942	H	0.97852	4.09	0.53688	D	0.999978	D;D	0.89917	0.999;1.0	D;D	0.91635	0.987;0.999	D	0.90916	0.4779	10	0.72032	D	0.01	.	13.9691	0.64228	0.0:1.0:0.0:0.0	.	130;194	B3KVK6;P27918	.;PROP_HUMAN	E	194;194;194;59	ENSP00000380189:G194E;ENSP00000247153:G194E;ENSP00000366204:G194E;ENSP00000418258:G59E	ENSP00000247153:G194E	G	-	2	0	CFP	47371669	0.995000	0.38212	0.969000	0.41365	0.598000	0.36846	5.368000	0.66133	2.370000	0.80446	0.596000	0.82720	GGG	-	CFP	-	superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.652	CFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFP	HGNC	protein_coding	OTTHUMT00000056435.2	0	0	0	89	89	33	0.00	0.00	C	NM_002621		47486725	-1	32	15	58	14	tier1	no_errors	ENST00000247153	ensembl	human	known	74_37	missense	35.56	51.72	SNP	1.000	T	32	58
LUC7L3	51747	genome.wustl.edu	37	17	48827881	48827881	+	Missense_Mutation	SNP	T	T	G			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr17:48827881T>G	ENST00000505658.1	+	10	1347	c.1158T>G	c.(1156-1158)gaT>gaG	p.D386E	LUC7L3_ENST00000240304.1_Missense_Mutation_p.D386E|LUC7L3_ENST00000544170.1_Missense_Mutation_p.D310E|LUC7L3_ENST00000393227.2_Missense_Mutation_p.D386E			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	386	Arg/Ser-rich.				mRNA splice site selection (GO:0006376)|RNA splicing (GO:0008380)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|U1 snRNP (GO:0005685)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)	p.D386fs*2(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						GATCTGATGATAAAAAAAGTA	0.353													ENSG00000108848																																					1	Insertion - Frameshift(1)	haematopoietic_and_lymphoid_tissue(1)											126.0	128.0	127.0					17																	48827881		2203	4300	6503	SO:0001583	missense	0			-		CCDS11573.1	17q21.33	2010-02-17			ENSG00000108848	ENSG00000108848			24309	protein-coding gene	gene with protein product	"""cisplatin resistance associated overexpressed protein"", ""CRE-associated protein"""	609434				10631324, 12565863	Standard	NM_016424		Approved	LUC7A, CROP, OA48-18, CREAP-1, FLJ11063, CRA, hLuc7A	uc002iss.3	O95232	OTTHUMG00000162257	ENST00000505658.1:c.1158T>G	17.37:g.48827881T>G	ENSP00000425092:p.Asp386Glu		B3KN54|D3DTY1|Q6PHR9|Q9NUY0|Q9P2S7	Missense_Mutation	SNP	pfam_Luc7-rel	p.D386E	ENST00000505658.1	37	c.1158	CCDS11573.1	17	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	21.2|21.2|21.2	4.108921|4.108921|4.108921	0.77096|0.77096|0.77096	.|.|.	.|.|.	ENSG00000108848|ENSG00000108848|ENSG00000108848	ENST00000505658;ENST00000393227;ENST00000240304;ENST00000544170|ENST00000503728|ENST00000513969	T;T;T;T|.|.	0.62105|.|.	1.61;0.05;1.61;1.61|.|.	5.95|5.95|5.95	4.87|4.87|4.87	0.63330|0.63330|0.63330	.|.|.	0.093051|.|.	0.64402|.|.	D|.|.	0.000001|.|.	T|T|.	0.37758|0.37758|.	0.1015|0.1015|.	N|N|N	0.14661|0.14661|0.14661	0.345|0.345|0.345	0.43632|0.43632|0.43632	D|D|D	0.996022|0.996022|0.996022	B;B;B|.|.	0.20261|.|.	0.001;0.01;0.043|.|.	B;B;B|.|.	0.15870|.|.	0.008;0.014;0.014|.|.	T|T|.	0.16867|0.16867|.	-1.0388|-1.0388|.	10|5|.	0.38643|.|.	T|.|.	0.18|.|.	-18.8694|-18.8694|-18.8694	9.0747|9.0747|9.0747	0.36513|0.36513|0.36513	0.0:0.1406:0.0:0.8594|0.0:0.1406:0.0:0.8594|0.0:0.1406:0.0:0.8594	.|.|.	310;386;386|.|.	B4DJ96;O95232;A8K3C5|.|.	.;LC7L3_HUMAN;.|.|.	E|R|E	386;386;386;310|35|37	ENSP00000425092:D386E;ENSP00000376919:D386E;ENSP00000240304:D386E;ENSP00000444253:D310E|.|.	ENSP00000240304:D386E|.|.	D|I|X	+|+|+	3|2|1	2|0|0	LUC7L3|LUC7L3|LUC7L3	46182880|46182880|46182880	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	1.910000|1.910000|1.910000	0.39927|0.39927|0.39927	1.065000|1.065000|1.065000	0.40693|0.40693|0.40693	0.533000|0.533000|0.533000	0.62120|0.62120|0.62120	GAT|ATA|TAA	-	LUC7L3	-	NULL		0.353	LUC7L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LUC7L3	HGNC	protein_coding	OTTHUMT00000368205.2	0	0	0	41	41	83	0.00	0.00	T	NM_016424		48827881	+1	18	62	32	45	tier1	no_errors	ENST00000240304	ensembl	human	known	74_37	missense	36.00	57.94	SNP	1.000	G	18	32
BTBD11	121551	genome.wustl.edu	37	12	108004005	108004005	+	Missense_Mutation	SNP	C	C	T			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr12:108004005C>T	ENST00000280758.5	+	5	2210	c.1682C>T	c.(1681-1683)gCg>gTg	p.A561V	BTBD11_ENST00000490090.2_Missense_Mutation_p.A561V|BTBD11_ENST00000357167.4_Missense_Mutation_p.A98V|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000420571.2_Missense_Mutation_p.A561V	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	561						integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AAGCTGGATGCGGTGGCCATC	0.582											OREG0022090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000151136																																					0													137.0	119.0	125.0					12																	108004005		2203	4300	6503	SO:0001583	missense	0			-	AK091276	CCDS31893.1, CCDS41827.1	12q24.11	2013-10-02			ENSG00000151136	ENSG00000151136		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23844	protein-coding gene	gene with protein product							Standard	XM_005268645		Approved	FLJ33957, ABTB2B	uc001tmk.1	A6QL63	OTTHUMG00000150413	ENST00000280758.5:c.1682C>T	12.37:g.108004005C>T	ENSP00000280758:p.Ala561Val	21	A4FU41|B3KXG3|C9J019|C9JK80|E9PHS4|Q3ZTQ4|Q52M89|Q6ZV99|Q8N245	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.A561V	ENST00000280758.5	37	c.1682	CCDS31893.1	12	.	.	.	.	.	.	.	.	.	.	C	34	5.343882	0.95807	.	.	ENSG00000151136	ENST00000280758;ENST00000420571;ENST00000490090;ENST00000550706;ENST00000415943;ENST00000357167	T;T;T;T;T;T	0.51071	1.16;1.23;1.2;0.73;0.72;0.96	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.51550	0.1681	N	0.08118	0	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.994;0.986;0.996;0.988	T	0.59669	-0.7411	10	0.42905	T	0.14	.	19.3929	0.94592	0.0:1.0:0.0:0.0	.	561;98;561;561	A6QL63-2;E9PHS4;A6QL63;A6QL63-3	.;.;BTBDB_HUMAN;.	V	561;561;561;192;195;98	ENSP00000280758:A561V;ENSP00000413889:A561V;ENSP00000447319:A561V;ENSP00000447606:A192V;ENSP00000407416:A195V;ENSP00000349690:A98V	ENSP00000280758:A561V	A	+	2	0	BTBD11	106528135	1.000000	0.71417	0.979000	0.43373	0.886000	0.51366	7.773000	0.85462	2.572000	0.86782	0.462000	0.41574	GCG	-	BTBD11	-	NULL		0.582	BTBD11-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BTBD11	HGNC	protein_coding	OTTHUMT00000318003.1	0	0	1	40	40	124	0.00	0.80	C	NM_152322		108004005	+1	29	48	23	39	tier1	no_errors	ENST00000280758	ensembl	human	known	74_37	missense	55.77	55.17	SNP	1.000	T	29	23
MLC1	23209	genome.wustl.edu	37	22	50518372	50518372	+	Missense_Mutation	SNP	A	A	G			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_IV	WXS	Hybrid_Capture_Illumina_Seq			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr22:50518372A>G	ENST00000311597.5	-	5	1004	c.398T>C	c.(397-399)cTa>cCa	p.L133P	MLC1_ENST00000450140.2_Intron|MLC1_ENST00000538737.1_Intron|MLC1_ENST00000431262.2_Missense_Mutation_p.L103P|MLC1_ENST00000535444.1_Missense_Mutation_p.L54P|MLC1_ENST00000395876.2_Missense_Mutation_p.L133P	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	133					caveolin-mediated endocytosis (GO:0072584)|cellular response to cholesterol (GO:0071397)|ion transport (GO:0006811)|positive regulation of intracellular transport (GO:0032388)|protein oligomerization (GO:0051259)|regulation of response to osmotic stress (GO:0047484)|transport (GO:0006810)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)	protein complex binding (GO:0032403)|protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		GTTCAGGACTAGTTTGCATCC	0.473													ENSG00000100427																																					0													193.0	168.0	176.0					22																	50518372		2203	4300	6503	SO:0001583	missense	0			-	D25217	CCDS14083.1	22q13.33	2007-03-20			ENSG00000100427	ENSG00000100427			17082	protein-coding gene	gene with protein product		605908				7584026, 7584028	Standard	XR_430476		Approved	MLC, KIAA0027, LVM, VL	uc003bjg.1	Q15049	OTTHUMG00000150236	ENST00000311597.5:c.398T>C	22.37:g.50518372A>G	ENSP00000310375:p.Leu133Pro		B3KW61|B7Z659|Q5JZ83|Q8TAG4|Q96RP5|Q9UGY8	Missense_Mutation	SNP	NULL	p.L133P	ENST00000311597.5	37	c.398	CCDS14083.1	22	.	.	.	.	.	.	.	.	.	.	A	18.26	3.584913	0.65992	.	.	ENSG00000100427	ENST00000395876;ENST00000311597;ENST00000431262;ENST00000535444;ENST00000442311	D;D;D;D;D	0.96651	-4.04;-4.04;-3.66;-3.88;-4.08	5.12	5.12	0.69794	.	0.000000	0.64402	D	0.000001	D	0.97642	0.9227	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98397	1.0566	10	0.87932	D	0	-15.396	13.9052	0.63831	1.0:0.0:0.0:0.0	.	103;133	B7Z659;Q15049	.;MLC1_HUMAN	P	133;133;103;54;103	ENSP00000379216:L133P;ENSP00000310375:L133P;ENSP00000415877:L103P;ENSP00000438910:L54P;ENSP00000401385:L103P	ENSP00000310375:L133P	L	-	2	0	MLC1	48860499	1.000000	0.71417	0.612000	0.29024	0.459000	0.32528	8.051000	0.89446	1.918000	0.55548	0.459000	0.35465	CTA	-	MLC1	-	NULL		0.473	MLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLC1	HGNC	protein_coding	OTTHUMT00000316979.2	0	0	1	69	69	186	0.00	0.53	A	NM_015166		50518372	-1	37	59	48	73	tier1	no_errors	ENST00000311597	ensembl	human	known	74_37	missense	43.53	44.70	SNP	0.997	G	37	48
KCNG4	93107	genome.wustl.edu	37	16	84256307	84256307	+	Missense_Mutation	SNP	G	G	T			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr16:84256307G>T	ENST00000308251.4	-	3	1144	c.1076C>A	c.(1075-1077)aCg>aAg	p.T359K		NM_172347.2	NP_758857.1	Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	359					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GAGCCCCAGCGTCTGCAGCCC	0.662													ENSG00000168418																																					0													17.0	17.0	17.0					16																	84256307		2198	4296	6494	SO:0001583	missense	0			-	AF348984	CCDS10945.1	16q24.1	2011-07-05			ENSG00000168418	ENSG00000168418		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	19697	protein-coding gene	gene with protein product		607603				12060745, 16382104	Standard	NM_172347		Approved	Kv6.4	uc010voc.2	Q8TDN1	OTTHUMG00000137638	ENST00000308251.4:c.1076C>A	16.37:g.84256307G>T	ENSP00000312129:p.Thr359Lys		Q96H24	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.T359K	ENST00000308251.4	37	c.1076	CCDS10945.1	16	.	.	.	.	.	.	.	.	.	.	G	24.1	4.491469	0.84962	.	.	ENSG00000168418	ENST00000308251	T	0.63096	-0.02	5.61	4.65	0.58169	Ion transport (1);	0.048222	0.85682	D	0.000000	T	0.76821	0.4041	M	0.67700	2.07	0.80722	D	1	D	0.69078	0.997	D	0.69824	0.966	T	0.79671	-0.1706	10	0.66056	D	0.02	.	15.7048	0.77569	0.0:0.1369:0.863:0.0	.	359	Q8TDN1	KCNG4_HUMAN	K	359	ENSP00000312129:T359K	ENSP00000312129:T359K	T	-	2	0	KCNG4	82813808	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.750000	0.68712	1.346000	0.45694	0.655000	0.94253	ACG	-	KCNG4	-	pfam_Ion_trans_dom,prints_K_chnl		0.662	KCNG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNG4	HGNC	protein_coding	OTTHUMT00000269079.2	0	0	0	24	24	10	0.00	0.00	G	NM_172347		84256307	-1	4	0	25	9	tier1	no_errors	ENST00000308251	ensembl	human	known	74_37	missense	13.79	0.00	SNP	1.000	T	4	25
POU4F3	5459	genome.wustl.edu	37	5	145719326	145719326	+	Silent	SNP	C	C	T			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr5:145719326C>T	ENST00000230732.4	+	2	425	c.336C>T	c.(334-336)caC>caT	p.H112H	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	112					auditory receptor cell differentiation (GO:0042491)|axon extension (GO:0048675)|inner ear morphogenesis (GO:0042472)|neuromuscular process controlling balance (GO:0050885)|neuron apoptotic process (GO:0051402)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|retinal ganglion cell axon guidance (GO:0031290)|sensory perception of sound (GO:0007605)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACGCCGTGCACCAGGGCCTCG	0.662													ENSG00000091010																																					0													116.0	101.0	106.0					5																	145719326		2203	4299	6502	SO:0001819	synonymous_variant	0			-	U10060	CCDS4281.1	5q32	2011-06-20	2007-07-13		ENSG00000091010	ENSG00000091010		"""Homeoboxes / POU class"""	9220	protein-coding gene	gene with protein product		602460	"""POU domain class 4, transcription factor 3"""	DFNA15		9506947	Standard	NM_002700		Approved	BRN3C	uc003loa.2	Q15319	OTTHUMG00000129684	ENST00000230732.4:c.336C>T	5.37:g.145719326C>T			O60557|Q2M3F8	Silent	SNP	pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_D-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU	p.H112	ENST00000230732.4	37	c.336	CCDS4281.1	5																																																																																			-	POU4F3	-	NULL		0.662	POU4F3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU4F3	HGNC	protein_coding	OTTHUMT00000251887.2	0	0	0	40	40	27	0.00	0.00	C	NM_002700		145719326	+1	21	1	18	9	tier1	no_errors	ENST00000230732	ensembl	human	known	74_37	silent	53.85	10.00	SNP	1.000	T	21	18
RNA5-8SP6	100873336	genome.wustl.edu	37	Y	10037819	10037819	+	RNA	SNP	T	T	G	rs5005396		TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chrY:10037819T>G	ENST00000515896.1	+	0	56									RNA, 5.8S ribosomal pseudogene 6																		CAGCTAGCTGTGAGAATTAAT	0.527													ENSG00000251705																																					0																																												0			-			Yp11.2	2012-08-07	2012-08-07	2012-08-07	ENSG00000251705	ENSG00000251705			41960	pseudogene	RNA, pseudogene			"""RNA, 5.8S ribosomal 6"""	RN5-8S6			Standard	NG_033474		Approved						Y.37:g.10037819T>G				R	SNP	-	NULL	ENST00000515896.1	37	NULL		Y																																																																																			-	R5-8SP6	-	-		0.527	RNA5-8SP6-201	KNOWN	basic	rRNA	R5-8SP6	HGNC	rRNA		0	0	0	61	61	6	0.00	0.00	T			10037819	+1	7	0	75	3	tier1	no_errors	ENST00000515896	ensembl	human	known	74_37	rna	8.54	0.00	SNP	1.000	G	7	75
CXCL5	6374	genome.wustl.edu	37	4	74864215	74864217	+	In_Frame_Del	DEL	CAG	CAG	-	rs139966143	byFrequency	TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	CAG	CAG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr4:74864215_74864217delCAG	ENST00000296027.4	-	1	279_281	c.82_84delCTG	c.(82-84)ctgdel	p.L28del		NM_002994.3	NP_002985.1	P42830	CXCL5_HUMAN	chemokine (C-X-C motif) ligand 5	28					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|chemotaxis (GO:0006935)|immune response (GO:0006955)|positive regulation of cell proliferation (GO:0008284)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			CTGGCTGCGTCAGCAGCAGCAGC	0.7													ENSG00000163735																																					0										159,4049		24,111,1969						-0.9	0.4			15	307,7843		42,223,3810	no	coding	CXCL5	NM_002994.3		66,334,5779	A1A1,A1R,RR		3.7669,3.7785,3.7708				466,11892				SO:0001651	inframe_deletion	0				X78686	CCDS34006.1	4q13.3	2013-02-25	2002-08-22	2002-08-23		ENSG00000163735		"""Endogenous ligands"""	10642	protein-coding gene	gene with protein product		600324	"""small inducible cytokine subfamily B (Cys-X-Cys), member 5 (epithelial-derived neutrophil-activating peptide 78)"""	SCYB5		7929219	Standard	NM_002994		Approved	ENA-78	uc003hhk.4	P42830		ENST00000296027.4:c.82_84delCTG	4.37:g.74864224_74864226delCAG	ENSP00000296027:p.Leu28del		Q96QE1	In_Frame_Del	DEL	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC	p.L28in_frame_del	ENST00000296027.4	37	c.84_82	CCDS34006.1	4																																																																																				CXCL5	-	superfamily_Chemokine_IL8-like_dom		0.700	CXCL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCL5	HGNC	protein_coding	OTTHUMT00000362749.1	0	0	0	34	34	4	0.00	0.00	CAG	NM_002994		74864217	-1	4	0	19	1	tier1	no_errors	ENST00000296027	ensembl	human	known	74_37	in_frame_del	17.39	0.00	DEL	0.072:0.215:0.363	-	4	19
FBXL12	54850	genome.wustl.edu	37	19	9931256	9931261	+	5'Flank	DEL	ATACAC	ATACAC	-	rs71188840|rs375527443|rs368108275		TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	ATACAC	ATACAC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr19:9931256_9931261delATACAC	ENST00000247977.4	-	0	0				AC008752.1_ENST00000401283.1_RNA|FBXL12_ENST00000586073.1_5'Flank|SNORA70_ENST00000363367.1_RNA|FBXL12_ENST00000585379.1_Intron|FBXL12_ENST00000592067.1_5'Flank|FBXL12_ENST00000588922.1_5'Flank|FBXL12_ENST00000589626.1_5'Flank|FBXL12_ENST00000586469.1_5'Flank|FBXL12_ENST00000586651.1_5'Flank	NM_017703.1	NP_060173.1	Q9NXK8	FXL12_HUMAN	F-box and leucine-rich repeat protein 12						protein ubiquitination (GO:0016567)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|ubiquitin ligase complex (GO:0000151)				endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						atatatatatataCACACACACACAC	0.442													ENSG00000216102																																					0																																										SO:0001631	upstream_gene_variant	0				AK000195	CCDS12218.1	19p13.2	2011-06-09				ENSG00000127452		"""F-boxes / Leucine-rich repeats"""	13611	protein-coding gene	gene with protein product		609079				10531037	Standard	XM_005259964		Approved	FLJ20188, Fbl12	uc002mme.3	Q9NXK8			19.37:g.9931256_9931261delATACAC	Exception_encountered		B3KSJ8|Q9H5K4	R	DEL	-	NULL	ENST00000247977.4	37	NULL	CCDS12218.1	19																																																																																				AC008752.1	-	-		0.442	FBXL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000216102	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000450265.1	0	0	0	0	0	0	0.00	0.00	ATACAC	NM_017703		9931261	+1	0	0	0	0	tier1	no_errors	ENST00000401283	ensembl	human	novel	74_37	rna	0.00	0.00	DEL	0.001:0.002:0.004:0.003:0.003:0.001	-	0	0
EOMES	8320	genome.wustl.edu	37	3	27763427	27763428	+	In_Frame_Ins	INS	-	-	CGGCGC	rs368178421|rs1874198|rs3062761	byFrequency	TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr3:27763427_27763428insCGGCGC	ENST00000295743.4	-	1	561_562	c.358_359insGCGCCG	c.(358-360)gcc>gGCGCCGcc	p.119_120insGA	EOMES_ENST00000449599.1_In_Frame_Ins_p.119_120insGA|EOMES_ENST00000537516.1_Intron|EOMES_ENST00000461503.1_Intron			O95936	EOMES_HUMAN	eomesodermin	119	Ala-rich.		A -> G (in dbSNP:rs12715125).		brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|CD8-positive, alpha-beta T cell differentiation involved in immune response (GO:0002302)|cell differentiation involved in embryonic placenta development (GO:0060706)|cerebral cortex neuron differentiation (GO:0021895)|cerebral cortex regionalization (GO:0021796)|endoderm formation (GO:0001706)|endodermal cell fate specification (GO:0001714)|interferon-gamma production (GO:0032609)|mesoderm formation (GO:0001707)|mesodermal to mesenchymal transition involved in gastrulation (GO:0060809)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|olfactory bulb development (GO:0021772)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neuron differentiation (GO:0045664)|skeletal muscle cell differentiation (GO:0035914)|stem cell maintenance (GO:0019827)|trophectodermal cell differentiation (GO:0001829)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						ggcggcggcggctgcagcggcg	0.767													ENSG00000163508		2685	0.536142	0.3147	0.5274	5008	,	,		7250	0.8363		0.3837	False		,,,				2504	0.6892																0										101,91,844		44,2,11,38,13,410						-0.4	0.1		dbSNP_102	1	316,357,1963		136,0,44,143,71,924	no	codingComplex	EOMES	NM_005442.2		180,2,55,181,84,1334	A1A1,A1A2,A1R,A2A2,A2R,RR		25.5311,18.5328,23.5566				417,448,2807				SO:0001652	inframe_insertion	0				BC025363	CCDS2646.1, CCDS63585.1	3p24.1	2011-06-13	2010-06-24		ENSG00000163508	ENSG00000163508		"""T-boxes"""	3372	protein-coding gene	gene with protein product	"""T-box brain2"""	604615	"""eomesodermin (Xenopus laevis) homolog"""			9888994, 9434949	Standard	NM_005442		Approved	TBR2	uc003cdy.4	O95936	OTTHUMG00000130570	ENST00000295743.4:c.358_359insGCGCCG	3.37:g.27763427_27763428insCGGCGC	ENSP00000295743:p.Ala119_Ala120insGlyAla		B7Z4I2|B7ZA51|G3XAI5|Q8TAZ2|Q9UPM7	In_Frame_Ins	INS	pfam_TF_T-box,superfamily_p53-like_TF_D-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.120in_frame_insGA	ENST00000295743.4	37	c.359_358	CCDS2646.1	3																																																																																				EOMES	-	NULL		0.767	EOMES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EOMES	HGNC	protein_coding	OTTHUMT00000252995.1	0	0	0	0	0	0	0.00	0.00	-	NM_005442		27763428	-1	0	0	0	0	tier1	no_errors	ENST00000449599	ensembl	human	known	74_37	in_frame_ins	0.00	0.00	INS	0.116:0.075	CGGCGC	0	0
FOXD4L5	653427	genome.wustl.edu	37	9	70177160	70177160	+	Missense_Mutation	SNP	G	G	A			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr9:70177160G>A	ENST00000377420.1	-	1	1655	c.824C>T	c.(823-825)gCc>gTc	p.A275V		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	275					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(5)|lung(2)	7						ATAGACGGGGGCCGAGAGCAG	0.697													ENSG00000204779																																					0													2.0	3.0	3.0					9																	70177160		439	1198	1637	SO:0001583	missense	0			-		CCDS47977.1	9q13	2008-07-21			ENSG00000204779	ENSG00000204779			18522	protein-coding gene	gene with protein product						12234674	Standard	NM_001126334		Approved	bA15J10.2, OTTHUMG00000013332	uc010moc.3	Q5VV16	OTTHUMG00000013332	ENST00000377420.1:c.824C>T	9.37:g.70177160G>A	ENSP00000366637:p.Ala275Val			Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.A275V	ENST00000377420.1	37	c.824	CCDS47977.1	9	.	.	.	.	.	.	.	.	.	.	g	14.27	2.486724	0.44249	.	.	ENSG00000204779	ENST00000377420	D	0.94184	-3.37	1.07	1.07	0.20283	.	0.184523	0.25634	U	0.029334	D	0.85809	0.5783	L	0.34521	1.04	0.29104	N	0.881274	B	0.28850	0.225	B	0.15870	0.014	T	0.79529	-0.1766	10	0.56958	D	0.05	.	7.6881	0.28552	0.0:0.0:1.0:0.0	.	275	Q5VV16	FX4L5_HUMAN	V	275	ENSP00000366637:A275V	ENSP00000366637:A275V	A	-	2	0	FOXD4L5	69466980	0.000000	0.05858	0.786000	0.31890	0.259000	0.26198	-1.488000	0.02308	0.534000	0.28695	0.074000	0.15403	GCC	-	FOXD4L5	-	NULL		0.697	FOXD4L5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXD4L5	HGNC	protein_coding	OTTHUMT00000037122.1	1	1	0	104	104	0	0.95	0.00	G	NM_001126334		70177160	-1	21	0	112	0	tier1	no_errors	ENST00000377420	ensembl	human	known	74_37	missense	15.79	0.00	SNP	0.999	A	21	112
LINC00200	399706	genome.wustl.edu	37	10	1205736	1205736	+	lincRNA	SNP	A	A	G	rs60415666		TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr10:1205736A>G	ENST00000425630.1	+	0	29					NR_015376.2				long intergenic non-protein coding RNA 200																		ATGAGGGATGACGCAGGCACA	0.667													ENSG00000229205																																					0													15.0	18.0	17.0					10																	1205736		687	1591	2278			0			-	AK097673		10p15.3	2012-10-12	2011-08-11	2011-08-11	ENSG00000229205	ENSG00000229205		"""Long non-coding RNAs"""	30974	non-coding RNA	RNA, long non-coding			"""chromosome 10 open reading frame 139"", ""non-protein coding RNA 200"""	C10orf139, NCRNA00200			Standard	NR_015376		Approved	FLJ40354	uc010qag.1		OTTHUMG00000017539		10.37:g.1205736A>G				R	SNP	-	NULL	ENST00000425630.1	37	NULL		10																																																																																			rs60415666	LINC00200	-	-		0.667	LINC00200-001	KNOWN	basic	lincRNA	LINC00200	HGNC	lincRNA	OTTHUMT00000046417.2	0	0	0	26	26	0	0.00	0.00	A	NR_015376		1205736	+1	4	0	12	3	tier1	no_errors	ENST00000425630	ensembl	human	known	74_37	rna	25.00	0.00	SNP	0.155	G	4	12
PRAMEF5	343068	genome.wustl.edu	37	1	13366043	13366043	+	Missense_Mutation	SNP	T	T	C			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr1:13366043T>C	ENST00000376168.1	+	3	587	c.487T>C	c.(487-489)Tac>Cac	p.Y163H		NM_001013407.1	NP_001013425.1	Q5TYX0	PRAM5_HUMAN	PRAME family member 5	163					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					central_nervous_system(1)|kidney(3)	4	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGGATGAATACCTCACCTG	0.473													ENSG00000204502																																					0													1.0	1.0	1.0					1																	13366043		14	23	37	SO:0001583	missense	0			-		CCDS72708.1	1p36.21	2014-07-15			ENSG00000204502			"""-"""	27995	protein-coding gene	gene with protein product			"""PRAME family member 23"""	PRAMEF23			Standard	NM_001013407		Approved	PRAMEF5L	uc001auu.1	Q5TYX0	OTTHUMG00000009505	ENST00000376168.1:c.487T>C	1.37:g.13366043T>C	ENSP00000365338:p.Tyr163His		A2BDD6|A4FU31	Missense_Mutation	SNP	NULL	p.Y163H	ENST00000376168.1	37	c.487	CCDS30596.1	1	.	.	.	.	.	.	.	.	.	.	.	6.256	0.415292	0.11870	.	.	ENSG00000204502	ENST00000376168	T	0.04917	3.53	1.13	1.13	0.20643	.	0.307559	0.30940	N	0.008569	T	0.03095	0.0091	N	0.12471	0.22	0.80722	P	0.0	.	.	.	.	.	.	T	0.34976	-0.9807	7	0.19147	T	0.46	.	4.4783	0.11755	0.0:0.0:0.0:1.0	.	.	.	.	H	163	ENSP00000365338:Y163H	ENSP00000365338:Y163H	Y	+	1	0	PRAMEF5	13238630	0.002000	0.14202	0.002000	0.10522	0.164000	0.22412	1.152000	0.31663	0.768000	0.33290	0.136000	0.15936	TAC	-	PRAMEF5	-	NULL		0.473	PRAMEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF5	HGNC	protein_coding	OTTHUMT00000026271.1	0	0	0	19	19	0	0.00	0.00	T	NM_001013407		13366043	+1	3	0	9	0	tier1	no_errors	ENST00000376168	ensembl	human	known	74_37	missense	25.00	0.00	SNP	0.002	C	3	9
RNA5-8SP6	100873336	genome.wustl.edu	37	Y	10037863	10037863	+	RNA	DEL	C	C	-	rs373540942		TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chrY:10037863delC	ENST00000515896.1	+	0	100									RNA, 5.8S ribosomal pseudogene 6																		ATCGACACTTCGAACGCACTT	0.552													ENSG00000251705																																					0																																												0						Yp11.2	2012-08-07	2012-08-07	2012-08-07	ENSG00000251705	ENSG00000251705			41960	pseudogene	RNA, pseudogene			"""RNA, 5.8S ribosomal 6"""	RN5-8S6			Standard	NG_033474		Approved						Y.37:g.10037863delC				R	DEL	-	NULL	ENST00000515896.1	37	NULL		Y																																																																																				R5-8SP6	-	-		0.552	RNA5-8SP6-201	KNOWN	basic	rRNA	R5-8SP6	HGNC	rRNA		0	0	0	42	42	3	0.00	0.00	C			10037863	+1	6	0	56	2	tier1	no_errors	ENST00000515896	ensembl	human	known	74_37	rna	9.68	0.00	DEL	1.000	-	6	56
CYP11B1	1584	genome.wustl.edu	37	8	143961100	143961100	+	Missense_Mutation	SNP	G	G	A			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chr8:143961100G>A	ENST00000292427.4	-	1	162	c.130C>T	c.(130-132)Cgt>Tgt	p.R44C	CYP11B1_ENST00000517471.1_Missense_Mutation_p.R44C|CYP11B1_ENST00000377675.3_Missense_Mutation_p.R44C	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	44					aldosterone biosynthetic process (GO:0032342)|C21-steroid hormone biosynthetic process (GO:0006700)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|glucocorticoid biosynthetic process (GO:0006704)|glucose homeostasis (GO:0042593)|immune response (GO:0006955)|mineralocorticoid biosynthetic process (GO:0006705)|regulation of blood pressure (GO:0008217)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid 11-beta-monooxygenase activity (GO:0004507)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Cimetidine(DB00501)|Clotrimazole(DB00257)|Etomidate(DB00292)|Fluconazole(DB00196)|Hydrocortisone(DB00741)|Ketoconazole(DB01026)|Metoclopramide(DB01233)|Metyrapone(DB01011)|Miconazole(DB01110)|Mitotane(DB00648)|Phenytoin(DB00252)|Spironolactone(DB00421)	TTGCCTGGACGCCGGGGCATG	0.647									Familial Hyperaldosteronism type I				ENSG00000160882																																					0													65.0	61.0	63.0					8																	143961100		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Dexamethasone Sensitive Aldosteronism, FH-I	-	D16153	CCDS6392.1, CCDS34953.1	8q21-q22	2013-06-19	2003-01-14		ENSG00000160882	ENSG00000160882	1.14.15.4	"""Cytochrome P450s"""	2591	protein-coding gene	gene with protein product	"""steroid 11-beta-monooxygenase"""	610613	"""cytochrome P450, subfamily XIB (steroid 11-beta-hydroxylase), polypeptide 1"""	CYP11B		1303253	Standard	XM_005250807		Approved	P450C11, FHI, CPN1	uc003yxi.3	P15538	OTTHUMG00000164637	ENST00000292427.4:c.130C>T	8.37:g.143961100G>A	ENSP00000292427:p.Arg44Cys		Q14095|Q4VAQ8|Q4VAQ9|Q9UML2	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450	p.R44C	ENST00000292427.4	37	c.130	CCDS6392.1	8	.	.	.	.	.	.	.	.	.	.	G	2.671	-0.277599	0.05679	.	.	ENSG00000160882	ENST00000292427;ENST00000517471;ENST00000377675	T;T;T	0.74947	-0.33;-0.32;-0.89	2.96	0.184	0.15086	.	1.068100	0.07430	N	0.895534	T	0.37019	0.0988	N	0.00538	-1.39	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.08055	0.001;0.003;0.001	T	0.26395	-1.0104	10	0.35671	T	0.21	.	1.7769	0.03023	0.5406:0.0:0.1791:0.2803	.	44;44;44	Q4VAR0;Q4VAQ9;P15538	.;.;C11B1_HUMAN	C	44	ENSP00000292427:R44C;ENSP00000428043:R44C;ENSP00000366903:R44C	ENSP00000292427:R44C	R	-	1	0	CYP11B1	143958102	0.000000	0.05858	0.000000	0.03702	0.091000	0.18340	0.270000	0.18607	0.327000	0.23409	0.305000	0.20034	CGT	-	CYP11B1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial		0.647	CYP11B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP11B1	HGNC	protein_coding	OTTHUMT00000379475.2	0	0	0	41	41	3	0.00	0.00	G			143961100	-1	20	2	22	1	tier1	no_errors	ENST00000292427	ensembl	human	known	74_37	missense	47.62	66.67	SNP	0.099	A	20	22
MT-CO2	4513	genome.wustl.edu	37	M	8091	8091	+	Missense_Mutation	SNP	G	G	C			TCGA-FX-A8OO-01A-11D-A36J-09	TCGA-FX-A8OO-10A-01D-A36M-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	3def8194-e7e6-4872-be76-50bedf6b1339	bdc4ce01-8e6f-4cfb-9850-8e48d99cc23d	g.chrM:8091G>C	ENST00000361739.1	+	1	506	c.506G>C	c.(505-507)gGc>gCc	p.G169A	MT-ATP6_ENST00000361899.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-TW_ENST00000387382.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TR_ENST00000387439.1_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-TA_ENST00000387392.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-ND3_ENST00000361227.2_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA			P00403	COX2_HUMAN	mitochondrially encoded cytochrome c oxidase II	169					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|respiratory chain complex IV (GO:0045277)	copper ion binding (GO:0005507)|cytochrome-c oxidase activity (GO:0004129)			endometrium(5)|kidney(8)|lung(2)|pancreas(3)|prostate(1)	19						CCCCACATTAGGCTTAAAAAC	0.473													ENSG00000198712																																					0																																										SO:0001583	missense	0			-			mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198712	ENSG00000198712		"""Mitochondrial respiratory chain complex / Complex IV"""	7421	protein-coding gene	gene with protein product		516040	"""cytochrome c oxidase II"""	MTCO2		1712754, 1989603	Standard			Approved	COX2, CO2		P00403		ENST00000361739.1:c.506G>C	M.37:g.8091G>C	ENSP00000354876:p.Gly169Ala		Q37526	Missense_Mutation	SNP	pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2	p.G169A	ENST00000361739.1	37	c.506		MT																																																																																			-	MT-CO2	-	pfam_Cyt_c_oxidase_su2_C,superfamily_Cupredoxin,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2		0.473	MT-CO2-201	KNOWN	basic|appris_principal	protein_coding	MT-CO2	HGNC	protein_coding		0	0	0	117	117	0	0.00	0.00	G	YP_003024029		8091	+1	83	3	3	0	tier1	no_errors	ENST00000361739	ensembl	human	known	74_37	missense	96.51	100.00	SNP	NULL	C	83	3
