#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
SIRT3	23410	genome.wustl.edu	37	11	218843	218843	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr11:218843C>T	ENST00000382743.4	-	6	1270	c.1168G>A	c.(1168-1170)Gaa>Aaa	p.E390K	SIRT3_ENST00000529382.1_Missense_Mutation_p.E248K|SIRT3_ENST00000524564.1_Missense_Mutation_p.E326K|SIRT3_ENST00000525319.1_Missense_Mutation_p.E309K|SIRT3_ENST00000532956.1_Missense_Mutation_p.E336K	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIR3_HUMAN	sirtuin 3	390					aerobic respiration (GO:0009060)|peptidyl-lysine deacetylation (GO:0034983)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)	membrane (GO:0016020)|mitochondrion (GO:0005739)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|zinc ion binding (GO:0008270)			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		TTCCCAGTTTCCCGCTGCACA	0.602																																																0			11											115.0	98.0	104.0					11																	218843		2203	4300	6503	208843	SO:0001583	missense	23410			AF083108	CCDS7691.1, CCDS53590.1	11p15.5	2010-06-25	2010-06-25		ENSG00000142082	ENSG00000142082			14931	protein-coding gene	gene with protein product		604481	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 3"", ""sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae)"""			10381378, 18215119	Standard	NM_012239		Approved	SIR2L3	uc001lok.4	Q9NTG7	OTTHUMG00000119074	ENST00000382743.4:c.1168G>A	11.37:g.218843C>T	ENSP00000372191:p.Glu390Lys		208843	B7Z5U6|Q9Y6E8	Missense_Mutation	SNP	superfamily_SSF52467,HMMPfam_SIR2	p.E390K	ENST00000382743.4	37	c.1168	CCDS7691.1	11	.	.	.	.	.	.	.	.	.	.	C	12.60	1.987917	0.35036	.	.	ENSG00000142082	ENST00000382743;ENST00000525319;ENST00000524564;ENST00000532956;ENST00000529382	T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31	4.91	4.91	0.64330	.	0.305928	0.30159	N	0.010276	T	0.19685	0.0473	M	0.66439	2.03	0.50813	D	0.999892	P;P;P;P;P	0.50617	0.716;0.937;0.574;0.896;0.555	B;B;B;B;B	0.40741	0.297;0.191;0.056;0.339;0.143	T	0.01706	-1.1291	10	0.51188	T	0.08	-22.2293	11.0606	0.47944	0.0:0.9139:0.0:0.0861	.	336;390;309;326;390	E9PM75;B7Z7G4;E9PK80;E9PN58;Q9NTG7	.;.;.;.;SIRT3_HUMAN	K	390;309;326;336;248	ENSP00000372191:E390K;ENSP00000435464:E309K;ENSP00000432937:E326K;ENSP00000433077:E336K;ENSP00000437216:E248K	ENSP00000372191:E390K	E	-	1	0	SIRT3	208843	0.697000	0.27767	0.972000	0.41901	0.095000	0.18619	2.321000	0.43805	2.457000	0.83068	0.505000	0.49811	GAA	-	superfamily_SSF52467		0.602	SIRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIRT3	protein_coding	OTTHUMT00000239288.3	C			208843	-1	no_errors	NM_012239	genbank	human	validated	54_36p	missense	SNP	0.158	T
NRSN2	80023	genome.wustl.edu	37	20	334082	334082	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr20:334082G>T	ENST00000382291.3	+	4	658	c.418G>T	c.(418-420)Ggc>Tgc	p.G140C	NRSN2_ENST00000608736.1_Intron|NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000382285.2_Missense_Mutation_p.G140C	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	140						integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				GGCCATGATAGGCTGGCTGAG	0.637																																																0			20											58.0	53.0	54.0					20																	334082		2203	4300	6503	282082	SO:0001583	missense	80023			AL136915	CCDS12996.1	20p13	2008-02-04	2006-07-04	2006-07-04	ENSG00000125841	ENSG00000125841			16229	protein-coding gene	gene with protein product		610666	"""chromosome 20 open reading frame 98"""	C20orf98		16527258	Standard	NM_024958		Approved	dJ1103G7.6	uc002wdi.4	Q9GZP1	OTTHUMG00000031628	ENST00000382291.3:c.418G>T	20.37:g.334082G>T	ENSP00000371728:p.Gly140Cys		282082	A8K3B2|Q6FII5|Q9NUD3	Missense_Mutation	SNP	NULL	p.G140C	ENST00000382291.3	37	c.418	CCDS12996.1	20	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235555	0.39498	.	.	ENSG00000125841	ENST00000382291;ENST00000382285	T;T	0.17854	2.25;2.25	4.66	0.194	0.15143	.	0.471157	0.19173	N	0.120886	T	0.25754	0.0627	L	0.59436	1.845	0.19775	N	0.99996	D	0.56746	0.977	P	0.57548	0.823	T	0.05305	-1.0893	10	0.72032	D	0.01	-18.6503	6.2757	0.20979	0.4567:0.0:0.5433:0.0	.	140	Q9GZP1	NRSN2_HUMAN	C	140	ENSP00000371728:G140C;ENSP00000371722:G140C	ENSP00000371722:G140C	G	+	1	0	NRSN2	282082	0.178000	0.23122	0.221000	0.23827	0.365000	0.29674	0.323000	0.19593	0.204000	0.20548	0.643000	0.83706	GGC	-	NULL		0.637	NRSN2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	NRSN2	protein_coding	OTTHUMT00000077446.1	G	NM_024958		282082	+1	no_errors	NM_024958	genbank	human	validated	54_36p	missense	SNP	0.000	T
LOC101927708	101927708	genome.wustl.edu	37	11	3571845	3571845	+	RNA	SNP	T	T	G			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr11:3571845T>G	ENST00000527970.1	-	0	285																											tgatgtcaggtgatctgcccg	0.458																																																0			11																																								3528421			730993																															11.37:g.3571845T>G			3528421		RNA	SNP	-	NULL	ENST00000527970.1	37	NULL		11																																																																																			-	-		0.458	RP13-726E6.2-002	KNOWN	basic	processed_transcript	LOC730993	processed_transcript	OTTHUMT00000392273.1	T			3528421	-1	pseudogene	XR_038262	genbank	human	model	54_36p	rna	SNP	0.015	G
RLN1	6013	genome.wustl.edu	37	9	5339624	5339624	+	Silent	SNP	G	G	A			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr9:5339624G>A	ENST00000223862.1	-	1	249	c.123C>T	c.(121-123)cgC>cgT	p.R41R	RLN1_ENST00000487557.2_5'Flank|RLN1_ENST00000223858.4_Silent_p.R41R	NM_006911.2	NP_008842.1	P04808	REL1_HUMAN	relaxin 1	41					female pregnancy (GO:0007565)|signal transduction (GO:0007165)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			large_intestine(1)|lung(4)	5	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)		CAATCTGCGCGCGAACTAATT	0.512																																																0			9											36.0	40.0	39.0					9																	5339624		2200	4299	6499	5329624	SO:0001819	synonymous_variant	6013				CCDS6462.1	9p24.1	2013-02-26	2004-11-15		ENSG00000107018	ENSG00000107018		"""Endogenous ligands"""	10026	protein-coding gene	gene with protein product	"""prorelaxin H1"""	179730	"""relaxin 1 (H1)"""				Standard	NM_006911		Approved	H1	uc003zjb.2	P04808	OTTHUMG00000019495	ENST00000223862.1:c.123C>T	9.37:g.5339624G>A			5329624	Q99936|Q9UQJ1	Silent	SNP	superfamily_Insulin-like,HMMPfam_Insulin,HMMSmart_SM00078,PatternScan_INSULIN	p.R41	ENST00000223862.1	37	c.123	CCDS6462.1	9																																																																																			-	superfamily_Insulin-like,HMMPfam_Insulin,HMMSmart_SM00078		0.512	RLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLN1	protein_coding	OTTHUMT00000051617.1	G			5329624	-1	no_errors	NM_006911	genbank	human	reviewed	54_36p	silent	SNP	0.000	A
LAMA1	284217	genome.wustl.edu	37	18	7023221	7023221	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr18:7023221G>C	ENST00000389658.3	-	19	2736	c.2643C>G	c.(2641-2643)caC>caG	p.H881Q		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	881	Laminin EGF-like 8. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				ACCTTTCACAGTGGGCGCCAT	0.607																																																0			18											94.0	71.0	79.0					18																	7023221		2203	4300	6503	7013221	SO:0001583	missense	284217			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2643C>G	18.37:g.7023221G>C	ENSP00000374309:p.His881Gln		7013221		Missense_Mutation	SNP	HMMSmart_SM00136,HMMPfam_Laminin_N,superfamily_Galactose-binding domain-like,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_Concanavalin A-like lectins/glucanases,PatternScan_EGF_1,PatternScan_EGF_LAM_1,HMMSmart_SM00181,superfamily_EGF/Laminin,PatternScan_EGF_2,HMMSmart_SM00281,HMMPfam_Laminin_B,HMMPfam_Laminin_I,HMMPfam_Laminin_II,HMMSmart_SM00282,HMMPfam_Laminin_G_1,HMMPfam_Laminin_G_2	p.H881Q	ENST00000389658.3	37	c.2643	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	G	16.39	3.109014	0.56398	.	.	ENSG00000101680	ENST00000389658	T	0.61392	0.11	5.47	3.65	0.41850	EGF-like, laminin (4);	0.000000	0.85682	D	0.000000	T	0.59321	0.2185	L	0.41079	1.255	0.44852	D	0.997864	D	0.56287	0.975	P	0.57720	0.826	T	0.55611	-0.8114	10	0.41790	T	0.15	.	8.687	0.34243	0.2936:0.0:0.7064:0.0	.	881	P25391	LAMA1_HUMAN	Q	881	ENSP00000374309:H881Q	ENSP00000374309:H881Q	H	-	3	2	LAMA1	7013221	1.000000	0.71417	1.000000	0.80357	0.724000	0.41520	1.344000	0.33941	0.659000	0.30945	0.643000	0.83706	CAC	-	superfamily_Concanavalin A-like lectins/glucanases,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,HMMSmart_SM00181,PatternScan_EGF_LAM_1		0.607	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	protein_coding	OTTHUMT00000257369.1	G	NM_005559		7013221	-1	no_errors	NM_005559	genbank	human	validated	54_36p	missense	SNP	1.000	C
TP53	7157	genome.wustl.edu	37	17	7577529	7577529	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr17:7577529A>C	ENST00000269305.4	-	7	941	c.752T>G	c.(751-753)aTc>aGc	p.I251S	TP53_ENST00000359597.4_Missense_Mutation_p.I251S|TP53_ENST00000413465.2_Missense_Mutation_p.I251S|TP53_ENST00000455263.2_Missense_Mutation_p.I251S|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000420246.2_Missense_Mutation_p.I251S|TP53_ENST00000445888.2_Missense_Mutation_p.I251S	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	251	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in sporadic cancers; somatic mutation).|I -> M (in LFS; germline mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:17224074}.|I -> T (in sporadic cancers; somatic mutation).|I -> V (in sporadic cancers; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.I251S(11)|p.I251N(10)|p.0?(8)|p.I251T(4)|p.I251_T253delILT(4)|p.L252delL(3)|p.I251del(2)|p.P250_L252delPIL(2)|p.I251fs*12(1)|p.P250_T253delPILT(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(1)|p.I251fs*13(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGTGAGGATGGGCCTCCG	0.582		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	50	Substitution - Missense(25)|Deletion - In frame(14)|Whole gene deletion(8)|Deletion - Frameshift(2)|Insertion - Frameshift(1)	large_intestine(6)|stomach(6)|haematopoietic_and_lymphoid_tissue(6)|upper_aerodigestive_tract(5)|oesophagus(4)|liver(4)|bone(4)|breast(4)|central_nervous_system(3)|prostate(3)|ovary(2)|thyroid(1)|soft_tissue(1)|skin(1)	17											153.0	111.0	125.0					17																	7577529		2203	4300	6503	7518254	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.752T>G	17.37:g.7577529A>C	ENSP00000269305:p.Ile251Ser		7518254	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.I251S	ENST00000269305.4	37	c.752	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	A	18.86	3.713126	0.68730	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D;D	0.99855	-7.2;-7.2;-7.2;-7.2;-7.2;-7.2;-7.2	4.62	4.62	0.57501	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99851	0.9931	M	0.88105	2.93	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;1.0;0.999;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;1.0	D	0.96495	0.9367	10	0.87932	D	0	-1.7057	12.3101	0.54924	1.0:0.0:0.0:0.0	.	251;251;251;251;251	P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;P53_HUMAN;.;.	S	251;251;251;251;251;251;240;119	ENSP00000410739:I251S;ENSP00000352610:I251S;ENSP00000269305:I251S;ENSP00000398846:I251S;ENSP00000391127:I251S;ENSP00000391478:I251S;ENSP00000425104:I119S	ENSP00000269305:I251S	I	-	2	0	TP53	7518254	1.000000	0.71417	0.998000	0.56505	0.536000	0.34869	9.087000	0.94110	2.074000	0.62210	0.379000	0.24179	ATC	-	HMMPfam_P53,superfamily_p53-like transcription factors		0.582	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	A	NM_000546		7518254	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
PRAM1	84106	genome.wustl.edu	37	19	8564363	8564363	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr19:8564363G>T	ENST00000423345.4	-	2	849	c.329C>A	c.(328-330)cCt>cAt	p.P110H	PRAM1_ENST00000255612.3_Missense_Mutation_p.P110H			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	158	8 X 12 AA repeats of K-P-P-[PQ]-P-[EQ]- [VAF]-T-D-L-P-K.|Pro-rich.				integrin-mediated signaling pathway (GO:0007229)|regulation of neutrophil degranulation (GO:0043313)		lipid binding (GO:0008289)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						AGTGACCTCAGGCGGCGGGGG	0.642																																																0			19											55.0	57.0	57.0					19																	8564363		1616	3695	5311	8470363	SO:0001583	missense	84106			BC028012	CCDS45954.1, CCDS45954.2	19p13.2	2009-01-21				ENSG00000133246			30091	protein-coding gene	gene with protein product		606466				11301322, 15572693	Standard	NM_032152		Approved	PML-RAR	uc002mkd.3	Q96QH2		ENST00000423345.4:c.329C>A	19.37:g.8564363G>T	ENSP00000408342:p.Pro110His		8470363	Q8N6W7	Missense_Mutation	SNP	superfamily_SH3-domain,HMMPfam_SH3_2	p.P110H	ENST00000423345.4	37	c.329	CCDS45954.2	19	.	.	.	.	.	.	.	.	.	.	g	15.27	2.785155	0.49997	.	.	ENSG00000133246	ENST00000255612;ENST00000423345	T;T	0.30182	1.54;1.54	4.11	2.98	0.34508	.	0.000000	0.41712	D	0.000836	T	0.47820	0.1466	M	0.75264	2.295	0.09310	N	1	D;D	0.89917	1.0;0.999	D;D	0.74023	0.982;0.947	T	0.26224	-1.0109	10	0.87932	D	0	.	5.3255	0.15905	0.1122:0.2085:0.6793:0.0	.	110;158	Q96QH2-2;Q96QH2	.;PRAM_HUMAN	H	110	ENSP00000255612:P110H;ENSP00000408342:P110H	ENSP00000255612:P110H	P	-	2	0	PRAM1	8470363	0.011000	0.17503	0.228000	0.23943	0.163000	0.22366	1.524000	0.35942	2.283000	0.76528	0.586000	0.80456	CCT	-	NULL		0.642	PRAM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRAM1	protein_coding	OTTHUMT00000397040.3	G	NM_032152		8470363	-1	no_errors	NM_032152	genbank	human	reviewed	54_36p	missense	SNP	0.344	T
RP1L1	94137	genome.wustl.edu	37	8	10464495	10464495	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr8:10464495G>T	ENST00000382483.3	-	4	7336	c.7113C>A	c.(7111-7113)gaC>gaA	p.D2371E		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	2451					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCTCTTGTAGGTCATAACCTT	0.552																																																0			8											102.0	107.0	106.0					8																	10464495		1913	4116	6029	10501905	SO:0001583	missense	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.7113C>A	8.37:g.10464495G>T	ENSP00000371923:p.Asp2371Glu		10501905	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	superfamily_SSF89837,HMMPfam_DCX,HMMPfam_S-antigen	p.D2371E	ENST00000382483.3	37	c.7113	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	G	9.297	1.052198	0.19827	.	.	ENSG00000183638	ENST00000382483	T	0.04083	3.71	4.29	2.44	0.29823	.	.	.	.	.	T	0.01940	0.0061	N	0.08118	0	0.09310	N	1	P	0.37330	0.59	B	0.33196	0.159	T	0.39210	-0.9625	9	0.10902	T	0.67	-3.3776	3.5326	0.07782	0.2967:0.1999:0.5034:0.0	.	2371	A6NKC6	.	E	2371	ENSP00000371923:D2371E	ENSP00000371923:D2371E	D	-	3	2	RP1L1	10501905	0.000000	0.05858	0.002000	0.10522	0.016000	0.09150	0.417000	0.21214	0.539000	0.28788	0.555000	0.69702	GAC	-	NULL		0.552	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	protein_coding	OTTHUMT00000375673.1	G			10501905	-1	no_errors	NM_178857	genbank	human	validated	54_36p	missense	SNP	0.000	T
LDHAL6A	160287	genome.wustl.edu	37	11	18485528	18485528	+	Silent	SNP	C	C	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr11:18485528C>T	ENST00000280706.2	+	2	944	c.147C>T	c.(145-147)gtC>gtT	p.V49V	LDHAL6A_ENST00000396213.3_Silent_p.V49V	NM_144972.4	NP_659409.2	Q6ZMR3	LDH6A_HUMAN	lactate dehydrogenase A-like 6A	49					cellular carbohydrate metabolic process (GO:0044262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	L-lactate dehydrogenase activity (GO:0004459)			large_intestine(3)|lung(9)|urinary_tract(1)	13						ATGAACTTGTCCTTGTGGATG	0.388																																																0			11											167.0	139.0	149.0					11																	18485528		2199	4293	6492	18442104	SO:0001819	synonymous_variant	160287			AK131523	CCDS7841.1	11p15.1	2011-01-27			ENSG00000166800	ENSG00000166800			28335	protein-coding gene	gene with protein product						12477932	Standard	NM_001144071		Approved	MGC23940, LDH6A	uc001mop.1	Q6ZMR3	OTTHUMG00000167724	ENST00000280706.2:c.147C>T	11.37:g.18485528C>T			18442104	D3DQY5	Silent	SNP	superfamily_NAD(P)-bd,HMMPfam_Ldh_1_N,superfamily_Lactate_DH/Glyco_hydro_4_C,HMMPfam_Ldh_1_C,PatternScan_L_LDH	p.V49	ENST00000280706.2	37	c.147	CCDS7841.1	11																																																																																			-	superfamily_NAD(P)-bd,HMMPfam_Ldh_1_N		0.388	LDHAL6A-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LDHAL6A	protein_coding	OTTHUMT00000395904.1	C	NM_144972		18442104	+1	no_errors	NM_144972	genbank	human	validated	54_36p	silent	SNP	1.000	T
TTC39C	125488	genome.wustl.edu	37	18	21698196	21698196	+	Splice_Site	SNP	G	G	C			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr18:21698196G>C	ENST00000317571.3	+	8	1422	c.1186G>C	c.(1186-1188)Gtt>Ctt	p.V396L	TTC39C_ENST00000540918.2_Splice_Site_p.V89L|TTC39C_ENST00000304621.6_Splice_Site_p.V335L|RP11-799B12.2_ENST00000583782.1_RNA	NM_001135993.1	NP_001129465.1	Q8N584	TT39C_HUMAN	tetratricopeptide repeat domain 39C	396										breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	19						CTTGACTGCAGGTGAGTCGCC	0.493																																																0			18											101.0	89.0	93.0					18																	21698196		2203	4300	6503	19952194	SO:0001630	splice_region_variant	125488			AK091080	CCDS32804.1, CCDS45839.1, CCDS58616.1	18q11.2	2014-02-07	2008-06-23	2008-06-23	ENSG00000168234	ENSG00000168234		"""Tetratricopeptide (TTC) repeat domain containing"""	26595	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 17"""	C18orf17		14702039	Standard	NM_153211		Approved	FLJ33761, HsT2697	uc002kuw.3	Q8N584	OTTHUMG00000179403	ENST00000317571.3:c.1186+1G>C	18.37:g.21698196G>C			19952194	B7WP63|J3QRR1|Q0VAJ2|Q8N284	Missense_Mutation	SNP	HMMPfam_Deme6,superfamily_SSF48452	p.V335L	ENST00000317571.3	37	c.1003	CCDS45839.1	18	.	.	.	.	.	.	.	.	.	.	G	16.43	3.121708	0.56613	.	.	ENSG00000168234	ENST00000304621;ENST00000317571;ENST00000540918	T;T;T	0.44482	0.92;0.92;0.92	5.45	5.45	0.79879	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.41604	0.1166	L	0.52011	1.625	0.80722	D	1	P	0.38827	0.649	B	0.37692	0.256	T	0.26087	-1.0113	10	0.36615	T	0.2	-1.2893	18.0387	0.89313	0.0:0.0:1.0:0.0	.	396	Q8N584	TT39C_HUMAN	L	335;396;89	ENSP00000306598:V335L;ENSP00000323645:V396L;ENSP00000443016:V89L	ENSP00000306598:V335L	V	+	1	0	TTC39C	19952194	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	7.343000	0.79319	2.544000	0.85801	0.655000	0.94253	GTT	-	HMMPfam_Deme6,superfamily_SSF48452		0.493	TTC39C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC39C	protein_coding	OTTHUMT00000446107.1	G	NM_153211	Missense_Mutation	19952194	+1	no_errors	NM_153211	genbank	human	validated	54_36p	missense	SNP	1.000	C
DNAH3	55567	genome.wustl.edu	37	16	21132167	21132167	+	Nonsense_Mutation	SNP	G	G	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr16:21132167G>T	ENST00000261383.3	-	11	1592	c.1593C>A	c.(1591-1593)taC>taA	p.Y531*	CTC-508F8.1_ENST00000575612.1_RNA|DNAH3_ENST00000415178.1_Nonsense_Mutation_p.Y531*	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	531	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TAAGTGGTATGTATTTCAGCT	0.502																																																0			16											112.0	92.0	99.0					16																	21132167		2201	4300	6501	21039668	SO:0001587	stop_gained	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.1593C>A	16.37:g.21132167G>T	ENSP00000261383:p.Tyr531*		21039668	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Nonsense_Mutation	SNP	HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_Prefoldin,HMMPfam_Dynein_heavy	p.Y531*	ENST00000261383.3	37	c.1593	CCDS10594.1	16	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437132	0.83885	.	.	ENSG00000158486	ENST00000544558;ENST00000261383;ENST00000415178	.	.	.	3.45	1.41	0.22369	.	1.562080	0.03697	N	0.248041	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	4.4116	0.11436	0.1203:0.0:0.6611:0.2186	.	.	.	.	X	82;531;531	.	ENSP00000261383:Y531X	Y	-	3	2	DNAH3	21039668	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.424000	0.21330	0.430000	0.26230	-0.208000	0.12717	TAC	-	NULL		0.502	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH3	protein_coding	OTTHUMT00000207361.1	G	NM_017539		21039668	-1	no_errors	NM_017539	genbank	human	provisional	54_36p	nonsense	SNP	0.292	T
SLCO1A2	6579	genome.wustl.edu	37	12	21454177	21454177	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr12:21454177C>A	ENST00000307378.6	-	8	1336	c.616G>T	c.(616-618)Ggt>Tgt	p.G206C	SLCO1A2_ENST00000458504.1_Missense_Mutation_p.G74C|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.G204C|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.G74C|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.G206C	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	206					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	ATCAAAGGACCAATAATAGCT	0.328																																																0			12											67.0	62.0	64.0					12																	21454177		2203	4298	6501	21345444	SO:0001583	missense	6579				CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.616G>T	12.37:g.21454177C>A	ENSP00000305974:p.Gly206Cys		21345444	Q9UGP7|Q9UL38	Missense_Mutation	SNP	superfamily_MFS general substrate transporter,HMMPfam_OATP,superfamily_Kazal-type serine protease inhibitors,HMMPfam_Kazal_2	p.G206C	ENST00000307378.6	37	c.616	CCDS8686.1	12	.	.	.	.	.	.	.	.	.	.	C	15.55	2.866478	0.51588	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670	T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46	5.43	5.43	0.79202	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.93167	0.7824	H	0.96239	3.79	0.58432	D	0.999998	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.94763	0.7938	10	0.87932	D	0	.	17.6045	0.88034	0.0:1.0:0.0:0.0	.	186;204;206	Q8IV69;P46721-2;P46721	.;.;SO1A2_HUMAN	C	206;206;74;74;204	ENSP00000305974:G206C;ENSP00000393973:G206C;ENSP00000394854:G74C;ENSP00000439401:G74C;ENSP00000375088:G204C	ENSP00000305974:G206C	G	-	1	0	SLCO1A2	21345444	1.000000	0.71417	0.976000	0.42696	0.006000	0.05464	5.188000	0.65093	2.826000	0.97356	0.655000	0.94253	GGT	-	superfamily_MFS general substrate transporter,HMMPfam_OATP		0.328	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1A2	protein_coding	OTTHUMT00000343648.3	C	NM_021094		21345444	-1	no_errors	NM_021094	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
MLLT10	8028	genome.wustl.edu	37	10	21962363	21962363	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr10:21962363A>T	ENST00000307729.7	+	11	1314	c.1136A>T	c.(1135-1137)gAc>gTc	p.D379V	MLLT10_ENST00000377059.3_Missense_Mutation_p.D379V|MLLT10_ENST00000377072.3_Missense_Mutation_p.D379V|MLLT10_ENST00000446906.2_Missense_Mutation_p.D379V			P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	379	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						AGCTTTACAGACTCAGATCTG	0.448			T	"""MLL, PICALM, CDK6"""	AL																																		Dom	yes		10	10p12	8028	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10 (AF10)"""		L	0			10											138.0	145.0	143.0					10																	21962363		2203	4300	6503	22002369	SO:0001583	missense	8028			U13948	CCDS7135.1, CCDS55706.1, CCDS55707.1, CCDS55708.1	10p12	2013-01-28	2001-11-28		ENSG00000078403	ENSG00000078403		"""Zinc fingers, PHD-type"""	16063	protein-coding gene	gene with protein product		602409	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 10"""			7888665	Standard	NM_004641		Approved	AF10	uc021pny.1	P55197	OTTHUMG00000017799	ENST00000307729.7:c.1136A>T	10.37:g.21962363A>T	ENSP00000307411:p.Asp379Val		22002369	B1ANA8|Q5JT37|Q5VX90|Q66K63	Missense_Mutation	SNP	superfamily_FYVE_PHD_ZnF,HMMSmart_PHD,HMMPfam_PHD,PatternScan_ZF_PHD_1	p.D379V	ENST00000307729.7	37	c.1136	CCDS55708.1	10	.	.	.	.	.	.	.	.	.	.	A	16.12	3.032010	0.54790	.	.	ENSG00000078403	ENST00000377072;ENST00000446906;ENST00000307729;ENST00000396529;ENST00000377059	T;T;T;T	0.15952	2.39;2.39;2.38;2.39	5.97	5.97	0.96955	.	0.364684	0.31834	N	0.006990	T	0.23249	0.0562	N	0.14661	0.345	0.80722	D	1	D;B;P;B	0.63046	0.992;0.104;0.535;0.129	P;B;B;B	0.59546	0.859;0.035;0.31;0.048	T	0.05225	-1.0898	10	0.49607	T	0.09	.	16.4383	0.83889	1.0:0.0:0.0:0.0	.	225;379;379;379	F5H541;E9PBP4;Q5VX90;P55197	.;.;.;AF10_HUMAN	V	379;379;379;225;379	ENSP00000366272:D379V;ENSP00000401406:D379V;ENSP00000307411:D379V;ENSP00000366258:D379V	ENSP00000307411:D379V	D	+	2	0	MLLT10	22002369	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.165000	0.77544	2.287000	0.76781	0.482000	0.46254	GAC	-	NULL		0.448	MLLT10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLLT10	protein_coding	OTTHUMT00000047136.1	A			22002369	+1	no_errors	NM_004641	genbank	human	validated	54_36p	missense	SNP	1.000	T
ZNF676	163223	genome.wustl.edu	37	19	22363142	22363142	+	Silent	SNP	G	G	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr19:22363142G>T	ENST00000397121.2	-	3	1694	c.1377C>A	c.(1375-1377)acC>acA	p.T459T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	459					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TTGAGGACCAGGTGAAGGCTT	0.433																																																0			19											124.0	128.0	127.0					19																	22363142		2147	4265	6412	22154982	SO:0001819	synonymous_variant	163223			AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.1377C>A	19.37:g.22363142G>T			22154982	A8MVX5	Silent	SNP	superfamily_Krueppel-associated_box,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1	p.T459	ENST00000397121.2	37	c.1377	CCDS42539.1	19																																																																																			-	superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1		0.433	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF676	protein_coding	OTTHUMT00000464392.1	G	NM_001001411		22154982	-1	no_errors	NM_001001411	genbank	human	provisional	54_36p	silent	SNP	0.000	T
CST4	1472	genome.wustl.edu	37	20	23667727	23667727	+	Missense_Mutation	SNP	T	T	G			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr20:23667727T>G	ENST00000217423.3	-	2	410	c.340A>C	c.(340-342)Aag>Cag	p.K114Q		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	114					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|retina homeostasis (GO:0001895)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	cysteine-type endopeptidase inhibitor activity (GO:0004869)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GAACGTACCTTCTGCAGTTCT	0.567																																																0			20											205.0	164.0	178.0					20																	23667727		2203	4300	6503	23615727	SO:0001583	missense	1472				CCDS13159.1	20p11.2	2008-04-15			ENSG00000101441	ENSG00000101441			2476	protein-coding gene	gene with protein product		123857				1801729	Standard	NM_001899		Approved		uc002wto.1	P01036	OTTHUMG00000032083	ENST00000217423.3:c.340A>C	20.37:g.23667727T>G	ENSP00000217423:p.Lys114Gln		23615727	Q9UBI5|Q9UCS9	Missense_Mutation	SNP	HMMSmart_CY,HMMPfam_Cystatin,superfamily_SSF54403,PatternScan_CYSTATIN	p.K114Q	ENST00000217423.3	37	c.340	CCDS13159.1	20	.	.	.	.	.	.	.	.	.	.	T	12.41	1.930441	0.34096	.	.	ENSG00000101441	ENST00000217423	T	0.25085	1.82	1.94	0.826	0.18829	Proteinase inhibitor I25, cystatin (2);	0.470225	0.21911	U	0.067313	T	0.20210	0.0486	L	0.46567	1.45	0.09310	N	1	B	0.33528	0.416	B	0.38921	0.285	T	0.11817	-1.0572	10	0.40728	T	0.16	.	3.4618	0.07536	0.0:0.2185:0.0:0.7815	.	114	P01036	CYTS_HUMAN	Q	114	ENSP00000217423:K114Q	ENSP00000217423:K114Q	K	-	1	0	CST4	23615727	0.010000	0.17322	0.024000	0.17045	0.567000	0.35839	0.672000	0.25187	0.218000	0.20820	0.172000	0.16884	AAG	-	HMMSmart_CY,HMMPfam_Cystatin,superfamily_SSF54403		0.567	CST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CST4	protein_coding	OTTHUMT00000078349.2	T	NM_001899		23615727	-1	no_errors	NM_001899	genbank	human	reviewed	54_36p	missense	SNP	0.011	G
CDH2	1000	genome.wustl.edu	37	18	25532156	25532156	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr18:25532156G>C	ENST00000269141.3	-	16	3105	c.2682C>G	c.(2680-2682)ttC>ttG	p.F894L	CDH2_ENST00000399380.3_Missense_Mutation_p.F863L|AC015933.2_ENST00000423367.1_RNA	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	894					adherens junction organization (GO:0034332)|blood vessel morphogenesis (GO:0048514)|calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell adhesion mediated by cadherin (GO:0044331)|cell-cell junction organization (GO:0045216)|glial cell differentiation (GO:0010001)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|muscle cell differentiation (GO:0042692)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuronal stem cell maintenance (GO:0097150)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|striated muscle cell differentiation (GO:0051146)	apical plasma membrane (GO:0016324)|catenin complex (GO:0016342)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|synapse (GO:0045202)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|gamma-catenin binding (GO:0045295)			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CAAGTTTCTTGAACCGTGGCC	0.468																																																0			18											126.0	117.0	120.0					18																	25532156		2203	4300	6503	23786154	SO:0001583	missense	1000			S42303	CCDS11891.1	18q12.1	2010-01-26			ENSG00000170558	ENSG00000170558		"""CD molecules"", ""Cadherins / Major cadherins"""	1759	protein-coding gene	gene with protein product	"""N-cadherin"""	114020		NCAD		2384753, 7731968, 2216790	Standard	NM_001792		Approved	CDHN, CD325	uc002kwg.2	P19022	OTTHUMG00000059940	ENST00000269141.3:c.2682C>G	18.37:g.25532156G>C	ENSP00000269141:p.Phe894Leu		23786154	A8MWK3|B0YIY6|Q14923|Q8N173	Missense_Mutation	SNP	superfamily_Cadherin-like,HMMPfam_Cadherin_pro,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C	p.F894L	ENST00000269141.3	37	c.2682	CCDS11891.1	18	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674652	0.67928	.	.	ENSG00000170558	ENST00000269141;ENST00000399380	D;D	0.85556	-2.0;-2.0	5.43	5.43	0.79202	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.94288	0.8165	M	0.90977	3.165	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.97110	1.0;0.992	D	0.95175	0.8294	10	0.87932	D	0	.	19.2485	0.93913	0.0:0.0:1.0:0.0	.	863;894	A8MWK3;P19022	.;CADH2_HUMAN	L	894;863	ENSP00000269141:F894L;ENSP00000382312:F863L	ENSP00000269141:F894L	F	-	3	2	CDH2	23786154	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.240000	0.58701	2.563000	0.86464	0.591000	0.81541	TTC	-	HMMPfam_Cadherin_C		0.468	CDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH2	protein_coding	OTTHUMT00000133246.3	G	NM_001792		23786154	-1	no_errors	NM_001792	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
TM9SF4	9777	genome.wustl.edu	37	20	30753128	30753128	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr20:30753128C>T	ENST00000398022.2	+	18	2045	c.1810C>T	c.(1810-1812)Ctc>Ttc	p.L604F	TM9SF4_ENST00000217315.5_Missense_Mutation_p.L587F	NM_014742.3	NP_055557.2	Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	604						integral component of membrane (GO:0016021)				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCCCTCTCTCCTCTACTTTGG	0.562																																																0			20											295.0	205.0	236.0					20																	30753128		2203	4300	6503	30216789	SO:0001583	missense	9777			BC021107	CCDS13196.2	20q11.21	2004-04-19			ENSG00000101337	ENSG00000101337			30797	protein-coding gene	gene with protein product						9039502	Standard	NM_014742		Approved	KIAA0255, dJ836N17.2	uc002wxj.2	Q92544	OTTHUMG00000032206	ENST00000398022.2:c.1810C>T	20.37:g.30753128C>T	ENSP00000381104:p.Leu604Phe		30216789	B0QYT7|Q9NUA3	Missense_Mutation	SNP	HMMPfam_EMP70	p.L587F	ENST00000398022.2	37	c.1759	CCDS13196.2	20	.	.	.	.	.	.	.	.	.	.	C	24.5	4.537459	0.85917	.	.	ENSG00000101337	ENST00000398022;ENST00000217315	T;T	0.53857	1.18;0.6	4.66	3.69	0.42338	.	0.000000	0.85682	D	0.000000	T	0.64583	0.2611	L	0.49513	1.565	0.80722	D	1	P;D	0.76494	0.78;0.999	P;D	0.71184	0.565;0.972	T	0.68078	-0.5504	10	0.87932	D	0	-22.8226	13.2974	0.60305	0.0:0.9212:0.0:0.0788	.	511;604	B4DH88;Q92544	.;TM9S4_HUMAN	F	604;587	ENSP00000381104:L604F;ENSP00000217315:L587F	ENSP00000217315:L587F	L	+	1	0	TM9SF4	30216789	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.782000	0.62396	2.404000	0.81709	0.561000	0.74099	CTC	-	NULL		0.562	TM9SF4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TM9SF4	protein_coding	OTTHUMT00000323568.1	C	NM_014742		30216789	+1	no_errors	NM_014742	genbank	human	validated	54_36p	missense	SNP	1.000	T
CLDN17	26285	genome.wustl.edu	37	21	31538578	31538578	+	Nonsense_Mutation	SNP	C	C	A			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr21:31538578C>A	ENST00000286808.3	-	1	393	c.358G>T	c.(358-360)Gga>Tga	p.G120*		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	120					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						CCTGAAGTTCCCAGAAGGTAT	0.517																																																0			21											85.0	85.0	85.0					21																	31538578		2203	4300	6503	30460449	SO:0001587	stop_gained	26285			AJ250712	CCDS13586.1	21q22.1	2008-07-31			ENSG00000156282	ENSG00000156282		"""Claudins"""	2038	protein-coding gene	gene with protein product						12736707	Standard	NM_012131		Approved	MGC126552, MGC126554	uc011acv.2	P56750	OTTHUMG00000081873	ENST00000286808.3:c.358G>T	21.37:g.31538578C>A	ENSP00000286808:p.Gly120*		30460449	Q3MJB5|Q6UY37	Nonsense_Mutation	SNP	HMMPfam_PMP22_Claudin,PatternScan_CLAUDIN	p.G120*	ENST00000286808.3	37	c.358	CCDS13586.1	21	.	.	.	.	.	.	.	.	.	.	C	24.6	4.550480	0.86127	.	.	ENSG00000156282	ENST00000286808	.	.	.	4.69	3.78	0.43462	.	0.136127	0.48767	D	0.000172	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	.	12.5621	0.56288	0.3479:0.652:0.0:0.0	.	.	.	.	X	120	.	ENSP00000286808:G120X	G	-	1	0	CLDN17	30460449	0.033000	0.19621	0.977000	0.42913	0.939000	0.58152	0.509000	0.22707	1.534000	0.49203	0.655000	0.94253	GGA	-	HMMPfam_PMP22_Claudin		0.517	CLDN17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN17	protein_coding	OTTHUMT00000182261.1	C	NM_012131		30460449	-1	no_errors	NM_012131	genbank	human	provisional	54_36p	nonsense	SNP	0.001	A
CAPN13	92291	genome.wustl.edu	37	2	30987079	30987079	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr2:30987079G>T	ENST00000295055.8	-	6	794	c.618C>A	c.(616-618)caC>caA	p.H206Q	CAPN13_ENST00000534090.2_Missense_Mutation_p.H206Q|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	206	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				proteolysis (GO:0006508)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CAGGGGAAGAGTGCAGATGGA	0.592																																																0			2											68.0	70.0	69.0					2																	30987079		2111	4230	6341	30840583	SO:0001583	missense	92291				CCDS46252.1	2p22-p21	2008-02-05			ENSG00000162949	ENSG00000162949			16663	protein-coding gene	gene with protein product		610228				11675017	Standard	NM_144575		Approved	FLJ23523	uc021vfm.1	Q6MZZ7	OTTHUMG00000152053	ENST00000295055.8:c.618C>A	2.37:g.30987079G>T	ENSP00000295055:p.His206Gln		30840583	Q17RF0|Q580X1|Q8TE80	Missense_Mutation	SNP	superfamily_Cysteine proteinases,HMMSmart_SM00230,HMMPfam_Peptidase_C2,superfamily_Calpain large subunit middle domain (domain III),superfamily_EF-hand	p.H206Q	ENST00000295055.8	37	c.618	CCDS46252.1	2	.	.	.	.	.	.	.	.	.	.	G	10.15	1.271577	0.23221	.	.	ENSG00000162949	ENST00000295055;ENST00000534090	D;D	0.86769	-2.17;-2.17	5.44	0.526	0.17078	Peptidase C2, calpain, catalytic domain (3);	0.994734	0.08173	N	0.986702	T	0.75932	0.3917	N	0.20483	0.58	0.09310	N	1	B	0.20887	0.049	B	0.18263	0.021	T	0.63730	-0.6571	10	0.45353	T	0.12	.	5.6708	0.17721	0.2752:0.3085:0.4163:0.0	.	206	Q6MZZ7	CAN13_HUMAN	Q	206	ENSP00000295055:H206Q;ENSP00000431298:H206Q	ENSP00000295055:H206Q	H	-	3	2	CAPN13	30840583	0.000000	0.05858	0.004000	0.12327	0.018000	0.09664	0.047000	0.14056	0.666000	0.31087	0.462000	0.41574	CAC	-	superfamily_Cysteine proteinases,HMMSmart_SM00230,HMMPfam_Peptidase_C2		0.592	CAPN13-001	KNOWN	basic|CCDS	protein_coding	CAPN13	protein_coding	OTTHUMT00000325101.2	G	NM_144575		30840583	-1	no_errors	NM_144575	genbank	human	validated	54_36p	missense	SNP	0.001	T
CDH6	1004	genome.wustl.edu	37	5	31323027	31323027	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr5:31323027A>G	ENST00000265071.2	+	12	2250	c.1985A>G	c.(1984-1986)gAa>gGa	p.E662G		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	662					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TACAACGACGAAGGTGGTGGA	0.488																																																0			5											87.0	84.0	85.0					5																	31323027		2203	4300	6503	31358784	SO:0001583	missense	1004			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1985A>G	5.37:g.31323027A>G	ENSP00000265071:p.Glu662Gly		31358784	A8K5H5|Q9BWS0	Missense_Mutation	SNP	superfamily_Cadherin-like,HMMSmart_SM00112,HMMPfam_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C	p.E662G	ENST00000265071.2	37	c.1985	CCDS3894.1	5	.	.	.	.	.	.	.	.	.	.	A	27.0	4.795560	0.90453	.	.	ENSG00000113361	ENST00000265071	D	0.82344	-1.6	5.52	5.52	0.82312	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.93789	0.8014	H	0.95402	3.665	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95515	0.8589	10	0.87932	D	0	.	15.938	0.79729	1.0:0.0:0.0:0.0	.	662	P55285	CADH6_HUMAN	G	662	ENSP00000265071:E662G	ENSP00000265071:E662G	E	+	2	0	CDH6	31358784	1.000000	0.71417	0.997000	0.53966	0.994000	0.84299	9.201000	0.95017	2.222000	0.72286	0.533000	0.62120	GAA	-	HMMPfam_Cadherin_C		0.488	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH6	protein_coding	OTTHUMT00000207355.2	A	NM_004932		31358784	+1	no_errors	NM_004932	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
SKIV2L	6499	genome.wustl.edu	37	6	31931792	31931792	+	Missense_Mutation	SNP	T	T	G			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr6:31931792T>G	ENST00000375394.2	+	16	1863	c.1750T>G	c.(1750-1752)Tca>Gca	p.S584A	SKIV2L_ENST00000544581.1_Missense_Mutation_p.S391A	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	584					ATP catabolic process (GO:0006200)	nucleus (GO:0005634)|Ski complex (GO:0055087)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TGAGCAGGCCTCAGGCCTCAC	0.662																																																0			6											107.0	111.0	110.0					6																	31931792		1510	2709	4219	32039771	SO:0001583	missense	6499				CCDS4731.1	6p21	2010-02-17	2001-11-28		ENSG00000204351	ENSG00000204351			10898	protein-coding gene	gene with protein product		600478	"""superkiller viralicidic activity 2 (S. cerevisiae homolog)-like"""	SKIV2		7759100, 9799600	Standard	XM_006715168		Approved	HLP, DDX13, SKI2W, 170A	uc003nyn.1	Q15477	OTTHUMG00000031146	ENST00000375394.2:c.1750T>G	6.37:g.31931792T>G	ENSP00000364543:p.Ser584Ala		32039771	O15005|Q12902|Q15476|Q5ST66	Missense_Mutation	SNP	superfamily_SSF52540,HMMSmart_DEXDc,HMMPfam_DEAD,HMMSmart_HELICc,HMMPfam_Helicase_C,HMMPfam_DSHCT	p.S584A	ENST00000375394.2	37	c.1750	CCDS4731.1	6	.	.	.	.	.	.	.	.	.	.	T	12.17	1.856742	0.32791	.	.	ENSG00000204351	ENST00000375394;ENST00000433155;ENST00000544581	T;T	0.70516	-0.49;-0.49	5.69	4.5	0.54988	.	0.193399	0.43747	D	0.000538	T	0.19327	0.0464	N	0.04245	-0.25	0.31559	N	0.657755	B	0.18461	0.028	B	0.09377	0.004	T	0.09840	-1.0656	10	0.07644	T	0.81	-6.8039	7.4095	0.27009	0.1427:0.0:0.1492:0.7081	.	584	Q15477	SKIV2_HUMAN	A	584;426;391	ENSP00000364543:S584A;ENSP00000442645:S391A	ENSP00000364543:S584A	S	+	1	0	SKIV2L	32039771	0.998000	0.40836	0.953000	0.39169	0.997000	0.91878	3.196000	0.51020	0.958000	0.37956	0.533000	0.62120	TCA	-	superfamily_SSF52540		0.662	SKIV2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKIV2L	protein_coding	OTTHUMT00000076264.3	T			32039771	+1	no_errors	NM_006929	genbank	human	reviewed	54_36p	missense	SNP	0.965	G
Unknown	0	genome.wustl.edu	37	16	33380050	33380050	+	IGR	SNP	A	A	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr16:33380050A>T								RP11-23E10.4 (13237 upstream) : BMS1P8 (117112 downstream)																							TGCTCAAGGAAGAGCTGGAGG	0.552																																																0			16																																								33287551	SO:0001628	intergenic_variant	647211																															16.37:g.33380050A>T			33287551		RNA	SNP	-	NULL		37	NULL		16																																																																																			-	-	0	0.552					LOC647211			A			33287551	+1	pseudogene	XR_017499	genbank	human	model	54_36p	rna	SNP	1.000	T
KCTD17	79734	genome.wustl.edu	37	22	37458586	37458586	+	Silent	SNP	C	C	T	rs116956945	byFrequency	TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr22:37458586C>T	ENST00000403888.3	+	9	919	c.918C>T	c.(916-918)ccC>ccT	p.P306P	KCTD17_ENST00000402077.3_Silent_p.P282P	NM_001282684.1	NP_001269613.1	Q8N5Z5	KCD17_HUMAN	potassium channel tetramerization domain containing 17	306	Pro-rich.				protein homooligomerization (GO:0051260)		identical protein binding (GO:0042802)			NS(1)|breast(1)|endometrium(1)|lung(1)|prostate(1)	5						CAGAGGCACCCGGATGTGAGG	0.587													C|||	106	0.0211661	0.0045	0.0259	5008	,	,		12259	0.001		0.0447	False		,,,				2504	0.0368															0			22						C		42,4364	44.6+/-78.6	0,42,2161	55.0	56.0	55.0		846	1.5	1.0	22	dbSNP_132	55	472,8128	134.3+/-191.7	15,442,3843	no	coding-synonymous	KCTD17	NM_024681.2		15,484,6004	TT,TC,CC		5.4884,0.9532,3.952		282/298	37458586	514,12492	2203	4300	6503	35788532	SO:0001819	synonymous_variant	79734			BC025403	CCDS13940.2, CCDS74854.1, CCDS74855.1	22q12.3	2013-06-20	2013-06-20		ENSG00000100379	ENSG00000100379			25705	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 17"""			12477932	Standard	XM_005261741		Approved	FLJ12242	uc011amv.2	Q8N5Z5	OTTHUMG00000150532	ENST00000403888.3:c.918C>T	22.37:g.37458586C>T			35788532	B0QYA9|B0QYB0|O95517	Silent	SNP	superfamily_POZ domain,HMMSmart_SM00225,HMMPfam_K_tetra	p.P275	ENST00000403888.3	37	c.825		22																																																																																			-	NULL		0.587	KCTD17-002	KNOWN	basic	protein_coding	KCTD17	protein_coding	OTTHUMT00000318781.1	C	NM_024681		35788532	+1	no_errors	NM_024681	genbank	human	validated	54_36p	silent	SNP	1.000	T
CCNA1	8900	genome.wustl.edu	37	13	37007278	37007278	+	Missense_Mutation	SNP	C	C	A	rs370590641		TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr13:37007278C>A	ENST00000255465.4	+	2	481	c.217C>A	c.(217-219)Ccg>Acg	p.P73T	CCNA1_ENST00000463403.1_3'UTR|CCNA1_ENST00000418263.1_Missense_Mutation_p.P72T|CCNA1_ENST00000440264.1_Missense_Mutation_p.P29T|CCNA1_ENST00000449823.1_Missense_Mutation_p.P29T			P78396	CCNA1_HUMAN	cyclin A1	73					G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|male meiosis I (GO:0007141)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)				breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CACCAGAGCCCCGCTGGGCCA	0.592																																																0			13											76.0	74.0	75.0					13																	37007278		2203	4300	6503	35905278	SO:0001583	missense	8900			U66838	CCDS9357.1, CCDS45031.1	13q12.3-q13	2014-01-21			ENSG00000133101	ENSG00000133101			1577	protein-coding gene	gene with protein product		604036				9041194	Standard	NM_003914		Approved	CT146	uc001uvr.4	P78396	OTTHUMG00000016733	ENST00000255465.4:c.217C>A	13.37:g.37007278C>A	ENSP00000255465:p.Pro73Thr		35905278	B7Z7E3|Q5T3V0|Q5U0G2|Q8IY91	Missense_Mutation	SNP	superfamily_Cyclin-like,HMMPfam_Cyclin_N,PatternScan_CYCLINS,HMMSmart_SM00385,HMMPfam_Cyclin_C	p.P73T	ENST00000255465.4	37	c.217	CCDS9357.1	13	.	.	.	.	.	.	.	.	.	.	C	11.38	1.620574	0.28801	.	.	ENSG00000133101	ENST00000440264;ENST00000449823;ENST00000418263;ENST00000255465	T;T;T;T	0.13538	2.61;2.61;2.58;2.58	4.63	3.79	0.43588	.	0.877543	0.10026	N	0.725334	T	0.07369	0.0186	N	0.08118	0	0.24577	N	0.99389	B;B	0.17667	0.009;0.023	B;B	0.15870	0.013;0.014	T	0.38693	-0.9649	10	0.15952	T	0.53	.	10.1372	0.42715	0.0:0.9042:0.0:0.0958	.	72;73	P78396-2;P78396	.;CCNA1_HUMAN	T	29;29;72;73	ENSP00000400666:P29T;ENSP00000409873:P29T;ENSP00000396479:P72T;ENSP00000255465:P73T	ENSP00000255465:P73T	P	+	1	0	CCNA1	35905278	0.084000	0.21492	0.967000	0.41034	0.950000	0.60333	2.376000	0.44292	1.066000	0.40716	0.555000	0.69702	CCG	-	NULL		0.592	CCNA1-001	KNOWN	basic|CCDS	protein_coding	CCNA1	protein_coding	OTTHUMT00000044514.2	C	NM_003914		35905278	+1	no_errors	NM_003914	genbank	human	reviewed	54_36p	missense	SNP	0.976	A
BRPF3	27154	genome.wustl.edu	37	6	36168392	36168392	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr6:36168392A>G	ENST00000357641.6	+	2	546	c.293A>G	c.(292-294)aAa>aGa	p.K98R	BRPF3_ENST00000443324.2_Missense_Mutation_p.K98R|BRPF3_ENST00000339717.7_Missense_Mutation_p.K98R|BRPF3_ENST00000543502.1_Missense_Mutation_p.K98R|BRPF3_ENST00000534400.1_Missense_Mutation_p.K98R|BRPF3_ENST00000534694.1_Missense_Mutation_p.K98R	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	98					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						TCCAAGGGCAAAAAGAAGGAA	0.522																																																0			6											99.0	92.0	95.0					6																	36168392		2203	4300	6503	36276370	SO:0001583	missense	27154			AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.293A>G	6.37:g.36168392A>G	ENSP00000350267:p.Lys98Arg		36276370	A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	HMMPfam_EPL1,superfamily_FYVE_PHD_ZnF,HMMSmart_PHD,HMMPfam_PHD,PatternScan_ZF_PHD_1,superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1,superfamily_SSF63748,HMMPfam_PWWP,HMMSmart_PWWP	p.K98R	ENST00000357641.6	37	c.293	CCDS34437.1	6	.	.	.	.	.	.	.	.	.	.	A	13.35	2.209556	0.39003	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000454960;ENST00000543502;ENST00000443324;ENST00000534400	T;T;T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93;0.93;0.93	5.73	5.73	0.89815	Enhancer of polycomb-like, N-terminal (1);	0.194725	0.45867	D	0.000323	T	0.22126	0.0533	L	0.34521	1.04	0.46336	D	0.998991	B;B;B	0.18863	0.004;0.012;0.031	B;B;B	0.22152	0.015;0.026;0.038	T	0.04607	-1.0939	10	0.41790	T	0.15	.	16.0601	0.80834	1.0:0.0:0.0:0.0	.	98;98;98	B7ZLN5;Q17RB6;Q9ULD4	.;.;BRPF3_HUMAN	R	98	ENSP00000350267:K98R;ENSP00000345419:K98R;ENSP00000434501:K98R;ENSP00000413655:K98R;ENSP00000445352:K98R;ENSP00000387368:K98R;ENSP00000436504:K98R	ENSP00000345419:K98R	K	+	2	0	BRPF3	36276370	1.000000	0.71417	0.998000	0.56505	0.976000	0.68499	5.751000	0.68720	2.199000	0.70637	0.451000	0.29950	AAA	-	HMMPfam_EPL1		0.522	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	BRPF3	protein_coding	OTTHUMT00000040335.3	A	NM_015695		36276370	+1	no_errors	NM_015695	genbank	human	validated	54_36p	missense	SNP	1.000	G
NUP155	9631	genome.wustl.edu	37	5	37299662	37299662	+	Silent	SNP	C	C	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr5:37299662C>T	ENST00000231498.3	-	31	3773	c.3570G>A	c.(3568-3570)ggG>ggA	p.G1190G	NUP155_ENST00000513532.1_Silent_p.G1126G|NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000381843.2_Silent_p.G1131G	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1190					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGCAAATTCCCCATAAAGCT	0.363																																																0			5											71.0	73.0	72.0					5																	37299662		2203	4300	6503	37335419	SO:0001819	synonymous_variant	9631			AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.3570G>A	5.37:g.37299662C>T			37335419	Q9UBE9|Q9UFL5	Silent	SNP	HMMPfam_Nucleoporin	p.G1190	ENST00000231498.3	37	c.3570	CCDS3921.1	5																																																																																			-	HMMPfam_Nucleoporin		0.363	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP155	protein_coding	OTTHUMT00000207593.2	C	NM_153485, NM_004298		37335419	-1	no_errors	NM_153485	genbank	human	reviewed	54_36p	silent	SNP	0.839	T
GDNF	2668	genome.wustl.edu	37	5	37816140	37816140	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr5:37816140C>T	ENST00000326524.2	-	3	448	c.249G>A	c.(247-249)atG>atA	p.M83I	GDNF_ENST00000381826.4_Missense_Mutation_p.M74I|GDNF_ENST00000427982.1_Missense_Mutation_p.M100I|GDNF_ENST00000515058.1_Missense_Mutation_p.M57I|GDNF_ENST00000344622.4_Missense_Mutation_p.M57I	NM_000514.3	NP_000505.1	P39905	GDNF_HUMAN	glial cell derived neurotrophic factor	83					adult locomotory behavior (GO:0008344)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|enteric nervous system development (GO:0048484)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|metanephros development (GO:0001656)|mRNA stabilization (GO:0048255)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neuron projection development (GO:0031175)|organ induction (GO:0001759)|peristalsis (GO:0030432)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0072108)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|postganglionic parasympathetic nervous system development (GO:0021784)|postsynaptic membrane organization (GO:0001941)|regulation of dopamine uptake involved in synaptic transmission (GO:0051584)|regulation of morphogenesis of a branching structure (GO:0060688)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|ureteric bud formation (GO:0060676)	extracellular region (GO:0005576)	protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					GAAGCACTGCCATTTGTTTAT	0.483																																																0			5											84.0	89.0	87.0					5																	37816140		2203	4300	6503	37851897	SO:0001583	missense	2668				CCDS3922.1, CCDS3923.1, CCDS54845.1, CCDS54846.1, CCDS75237.1	5p13.1-p12	2014-01-30			ENSG00000168621	ENSG00000168621		"""Endogenous ligands"""	4232	protein-coding gene	gene with protein product	"""astrocyte-derived trophic factor"", ""glial cell line derived neurotrophic factor"", ""glial derived neurotrophic factor"""	600837				8493557	Standard	NM_199231		Approved	ATF1, ATF2, HFB1-GDNF	uc011cpg.2	P39905	OTTHUMG00000090809	ENST00000326524.2:c.249G>A	5.37:g.37816140C>T	ENSP00000317145:p.Met83Ile		37851897	B7WPK7|O95448|O95449|O95986|Q6FH33|Q96L44|Q9UD32|Q9UD33|Q9UMV2|Q9UP67|Q9UP97	Missense_Mutation	SNP	HMMPfam_TGF_beta,superfamily_Cystine-knot cytokines,HMMSmart_SM00204	p.M83I	ENST00000326524.2	37	c.249	CCDS3922.1	5	.	.	.	.	.	.	.	.	.	.	C	7.375	0.627552	0.14257	.	.	ENSG00000168621	ENST00000326524;ENST00000344622;ENST00000515058;ENST00000427982;ENST00000381826;ENST00000502572;ENST00000510177	D;D;D;D;D;T;T	0.93019	-3.13;-3.15;-3.15;-3.13;-3.15;-0.99;-0.99	5.9	3.99	0.46301	.	0.475283	0.27331	N	0.019841	D	0.87406	0.6169	L	0.36672	1.1	0.23346	N	0.997861	B;B;B;B	0.10296	0.0;0.003;0.002;0.0	B;B;B;B	0.14578	0.001;0.008;0.011;0.0	T	0.73366	-0.4005	10	0.33141	T	0.24	-0.1946	7.5777	0.27946	0.2436:0.6729:0.0:0.0835	.	83;74;100;57	P39905;P39905-4;P39905-3;P39905-2	GDNF_HUMAN;.;.;.	I	83;57;57;100;74;57;57	ENSP00000317145:M83I;ENSP00000339703:M57I;ENSP00000425928:M57I;ENSP00000409007:M100I;ENSP00000371248:M74I;ENSP00000423557:M57I;ENSP00000424592:M57I	ENSP00000317145:M83I	M	-	3	0	GDNF	37851897	0.984000	0.35163	1.000000	0.80357	0.998000	0.95712	0.315000	0.19451	2.806000	0.96561	0.655000	0.94253	ATG	-	NULL		0.483	GDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDNF	protein_coding	OTTHUMT00000207606.1	C	NM_000514		37851897	-1	no_errors	NM_000514	genbank	human	reviewed	54_36p	missense	SNP	0.487	T
ENTHD1	150350	genome.wustl.edu	37	22	40257812	40257812	+	Nonsense_Mutation	SNP	T	T	A			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr22:40257812T>A	ENST00000325157.6	-	3	800	c.550A>T	c.(550-552)Aag>Tag	p.K184*		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	184										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TTATACTTCTTCTCTGAAGCA	0.363																																																0			22											58.0	61.0	60.0					22																	40257812		2203	4300	6503	38587758	SO:0001587	stop_gained	150350			AK093154	CCDS13998.1	22q13.1	2006-06-26			ENSG00000176177	ENSG00000176177			26352	protein-coding gene	gene with protein product						12477932	Standard	NM_152512		Approved	FLJ25421	uc003ayg.3	Q8IYW4	OTTHUMG00000151098	ENST00000325157.6:c.550A>T	22.37:g.40257812T>A	ENSP00000317431:p.Lys184*		38587758	B0QYD5|Q5H9F7|Q96LK3	Nonsense_Mutation	SNP	superfamily_ENTH/VHS domain,HMMPfam_ENTH,HMMSmart_SM00273	p.K184*	ENST00000325157.6	37	c.550	CCDS13998.1	22	.	.	.	.	.	.	.	.	.	.	T	39	7.774816	0.98483	.	.	ENSG00000176177	ENST00000325157	.	.	.	6.17	6.17	0.99709	.	0.773311	0.12216	N	0.488782	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.4876	13.214	0.59844	0.0:0.0:0.0:1.0	.	.	.	.	X	184	.	ENSP00000317431:K184X	K	-	1	0	ENTHD1	38587758	1.000000	0.71417	0.793000	0.32043	0.891000	0.51852	1.659000	0.37387	2.371000	0.80710	0.533000	0.62120	AAG	-	NULL		0.363	ENTHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTHD1	protein_coding	OTTHUMT00000321302.1	T	NM_152512		38587758	-1	no_errors	NM_152512	genbank	human	provisional	54_36p	nonsense	SNP	0.948	A
KLHL40	131377	genome.wustl.edu	37	3	42727774	42727774	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr3:42727774G>A	ENST00000287777.4	+	1	764	c.664G>A	c.(664-666)Gag>Aag	p.E222K		NM_152393.2	NP_689606.2	Q2TBA0	KLH40_HUMAN	kelch-like family member 40	222	BACK.				multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)											CACCGTCTTCGAGAGCGTGCG	0.716																																																0			3											12.0	12.0	12.0					3																	42727774		2171	4249	6420	42702778	SO:0001583	missense	131377			AK056577	CCDS2703.1	3p21.33	2013-07-30	2013-02-22	2013-01-08	ENSG00000157119	ENSG00000157119		"""Kelch-like"", ""BTB/POZ domain containing"""	30372	protein-coding gene	gene with protein product	"""sarcosynapsin"", ""nemaline myopathy type 8"""	615340	"""kelch repeat and BTB (POZ) domain containing 5"", ""kelch-like 40 (Drosophila)"""	KBTBD5		23746549	Standard	NM_152393		Approved	SRYP, NEM8	uc003clv.1	Q2TBA0	OTTHUMG00000133045	ENST00000287777.4:c.664G>A	3.37:g.42727774G>A	ENSP00000287777:p.Glu222Lys		42702778	Q86SI1|Q96MR2	Missense_Mutation	SNP	superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,PatternScan_MGMT,HMMPfam_BACK,superfamily_Galactose oxidase central domain,HMMPfam_Kelch_1,HMMSmart_SM00612	p.E222K	ENST00000287777.4	37	c.664	CCDS2703.1	3	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230177	0.58777	.	.	ENSG00000157119	ENST00000287777	T	0.68479	-0.33	4.56	3.68	0.42216	BTB/Kelch-associated (2);	0.164086	0.53938	N	0.000060	T	0.59542	0.2201	L	0.41961	1.31	0.45272	D	0.998278	B	0.30021	0.265	B	0.33750	0.169	T	0.58825	-0.7568	10	0.41790	T	0.15	.	12.5689	0.56326	0.0808:0.0:0.9192:0.0	.	222	Q2TBA0	KBTB5_HUMAN	K	222	ENSP00000287777:E222K	ENSP00000287777:E222K	E	+	1	0	KBTBD5	42702778	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.308000	0.59129	1.154000	0.42482	0.655000	0.94253	GAG	-	HMMPfam_BACK		0.716	KLHL40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD5	protein_coding	OTTHUMT00000256651.1	G	NM_152393		42702778	+1	no_errors	NM_152393	genbank	human	validated	54_36p	missense	SNP	1.000	A
PLEKHH2	130271	genome.wustl.edu	37	2	43969963	43969963	+	Nonsense_Mutation	SNP	C	C	A			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr2:43969963C>A	ENST00000282406.4	+	22	3415	c.3305C>A	c.(3304-3306)tCa>tAa	p.S1102*		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1102	MyTH4. {ECO:0000255|PROSITE- ProRule:PRU00359}.				negative regulation of actin filament depolymerization (GO:0030835)	cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	actin binding (GO:0003779)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GCAAGACCCTCAAGGATGGAA	0.403																																																0			2											170.0	148.0	155.0					2																	43969963		2203	4300	6503	43823467	SO:0001587	stop_gained	130271			AB095948	CCDS1812.1	2p22	2013-01-10			ENSG00000152527	ENSG00000152527		"""Pleckstrin homology (PH) domain containing"""	30506	protein-coding gene	gene with protein product		612723					Standard	NM_172069		Approved	KIAA2028, PLEKHH1L	uc010yny.2	Q8IVE3	OTTHUMG00000128657	ENST00000282406.4:c.3305C>A	2.37:g.43969963C>A	ENSP00000282406:p.Ser1102*		43823467	Q5JPJ6|Q6P4Q1|Q8N3Q3	Nonsense_Mutation	SNP	superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMSmart_SM00139,HMMPfam_MyTH4,HMMSmart_SM00295,superfamily_Second domain of FERM,HMMPfam_FERM_M	p.S1102*	ENST00000282406.4	37	c.3305	CCDS1812.1	2	.	.	.	.	.	.	.	.	.	.	C	43	10.270048	0.99372	.	.	ENSG00000152527	ENST00000282406	.	.	.	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-17.3014	19.1716	0.93580	0.0:1.0:0.0:0.0	.	.	.	.	X	1102	.	ENSP00000282406:S1102X	S	+	2	0	PLEKHH2	43823467	1.000000	0.71417	0.998000	0.56505	0.950000	0.60333	7.487000	0.81328	2.516000	0.84829	0.563000	0.77884	TCA	-	HMMSmart_SM00139,HMMPfam_MyTH4		0.403	PLEKHH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH2	protein_coding	OTTHUMT00000250537.1	C	NM_172069		43823467	+1	no_errors	NM_172069	genbank	human	validated	54_36p	nonsense	SNP	1.000	A
ABCG8	64241	genome.wustl.edu	37	2	44071693	44071693	+	Silent	SNP	C	C	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr2:44071693C>T	ENST00000272286.2	+	2	201	c.111C>T	c.(109-111)taC>taT	p.Y37Y		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	37					ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|phospholipid transport (GO:0015914)|response to drug (GO:0042493)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein heterodimerization activity (GO:0046982)|sterol transporter activity (GO:0015248)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	ACAGCCTGTACTTCACCTACA	0.562																																																0			2											68.0	57.0	60.0					2																	44071693		2203	4300	6503	43925197	SO:0001819	synonymous_variant	64241			AF320294	CCDS1815.1	2p21	2012-03-14	2008-07-31		ENSG00000143921	ENSG00000143921		"""ATP binding cassette transporters / subfamily G"""	13887	protein-coding gene	gene with protein product	"""gallbladder disease 4"", ""sterolin 2"""	605460	"""ATP-binding cassette, sub-family G (WHITE), member 8 (sterolin 2)"""			11099417, 17626266	Standard	NM_022437		Approved	GBD4	uc002rtq.3	Q9H221	OTTHUMG00000128756	ENST00000272286.2:c.111C>T	2.37:g.44071693C>T			43925197	Q53QN8	Silent	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1,HMMPfam_ABC2_membrane	p.Y37	ENST00000272286.2	37	c.111	CCDS1815.1	2																																																																																			-	NULL		0.562	ABCG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG8	protein_coding	OTTHUMT00000250671.1	C	NM_022437		43925197	+1	no_errors	NM_022437	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
SLC12A5	57468	genome.wustl.edu	37	20	44682246	44682246	+	Silent	SNP	C	C	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr20:44682246C>T	ENST00000454036.2	+	20	2695	c.2646C>T	c.(2644-2646)ttC>ttT	p.F882F	SLC12A5_ENST00000243964.3_Silent_p.F859F	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	882					cellular ion homeostasis (GO:0006873)|chloride transmembrane transport (GO:1902476)|ion transport (GO:0006811)|learning (GO:0007612)|multicellular organism growth (GO:0035264)|potassium ion transport (GO:0006813)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)|thermosensory behavior (GO:0040040)|transmembrane transport (GO:0055085)|transport (GO:0006810)	dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGCGTATCTTCACTGTGGCCC	0.532																																																0			20											219.0	171.0	187.0					20																	44682246		2203	4300	6503	44115653	SO:0001819	synonymous_variant	57468			AB033002	CCDS13391.1, CCDS46610.1	20q13.12	2013-05-22	2010-04-20		ENSG00000124140	ENSG00000124140		"""Solute carriers"""	13818	protein-coding gene	gene with protein product		606726					Standard	NM_020708		Approved	KIAA1176, KCC2	uc010zxl.1	Q9H2X9	OTTHUMG00000032638	ENST00000454036.2:c.2646C>T	20.37:g.44682246C>T			44115653	A2RTX2|Q5VZ41|Q9H4Z0|Q9ULP4	Silent	SNP	HMMPfam_AA_permease	p.F859	ENST00000454036.2	37	c.2577	CCDS46610.1	20																																																																																			-	NULL		0.532	SLC12A5-003	KNOWN	basic|CCDS	protein_coding	SLC12A5	protein_coding	OTTHUMT00000471538.1	C			44115653	+1	no_errors	NM_020708	genbank	human	reviewed	54_36p	silent	SNP	1.000	T
FGF10	2255	genome.wustl.edu	37	5	44305238	44305238	+	Silent	SNP	A	A	G			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr5:44305238A>G	ENST00000264664.4	-	3	600	c.486T>C	c.(484-486)aaT>aaC	p.N162N		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	162					actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|blood vessel remodeling (GO:0001974)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching morphogenesis of an epithelial tube (GO:0048754)|bronchiole morphogenesis (GO:0060436)|bud elongation involved in lung branching (GO:0060449)|bud outgrowth involved in lung branching (GO:0060447)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic genitalia morphogenesis (GO:0030538)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell migration (GO:0010631)|epithelial cell proliferation (GO:0050673)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|ERK1 and ERK2 cascade (GO:0070371)|establishment of mitotic spindle orientation (GO:0000132)|Fc-epsilon receptor signaling pathway (GO:0038095)|female genitalia morphogenesis (GO:0048807)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|hair follicle morphogenesis (GO:0031069)|Harderian gland development (GO:0070384)|induction of positive chemotaxis (GO:0050930)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte proliferation (GO:0043616)|lacrimal gland development (GO:0032808)|limb bud formation (GO:0060174)|lung epithelium development (GO:0060428)|lung proximal/distal axis specification (GO:0061115)|lung saccule development (GO:0060430)|male genitalia morphogenesis (GO:0048808)|mammary gland bud formation (GO:0060615)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal-epithelial cell signaling involved in lung development (GO:0060496)|mesonephros development (GO:0001823)|metanephros development (GO:0001656)|metanephros morphogenesis (GO:0003338)|muscle cell fate commitment (GO:0042693)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|organ induction (GO:0001759)|otic vesicle formation (GO:0030916)|pancreas development (GO:0031016)|phosphatidylinositol-mediated signaling (GO:0048015)|pituitary gland development (GO:0021983)|positive chemotaxis (GO:0050918)|positive regulation of ATPase activity (GO:0032781)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in wound healing (GO:0060054)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of hair follicle cell proliferation (GO:0071338)|positive regulation of keratinocyte migration (GO:0051549)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of urothelial cell proliferation (GO:0050677)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation of white fat cell proliferation (GO:0070352)|prostatic bud formation (GO:0060513)|protein localization to cell surface (GO:0034394)|radial glial cell differentiation (GO:0060019)|regulation of activin receptor signaling pathway (GO:0032925)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)|regulation of saliva secretion (GO:0046877)|regulation of smoothened signaling pathway (GO:0008589)|response to estradiol (GO:0032355)|response to lipopolysaccharide (GO:0032496)|salivary gland development (GO:0007431)|secretion by lung epithelial cell involved in lung growth (GO:0061033)|semicircular canal fusion (GO:0060879)|smooth muscle cell differentiation (GO:0051145)|somatic stem cell maintenance (GO:0035019)|spleen development (GO:0048536)|submandibular salivary gland formation (GO:0060661)|tear secretion (GO:0070075)|thymus development (GO:0048538)|thyroid gland development (GO:0030878)|tissue regeneration (GO:0042246)|Type II pneumocyte differentiation (GO:0060510)|urothelial cell proliferation (GO:0050674)|white fat cell differentiation (GO:0050872)|wound healing (GO:0042060)	cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chemoattractant activity (GO:0042056)|fibroblast growth factor receptor binding (GO:0005104)|growth factor activity (GO:0008083)|heparin binding (GO:0008201)|type 2 fibroblast growth factor receptor binding (GO:0005111)			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					ATGCATAGGTATTGTATCCAT	0.383																																																0			5											243.0	212.0	223.0					5																	44305238		2203	4300	6503	44340995	SO:0001819	synonymous_variant	2255				CCDS3950.1	5p13-p12	2008-02-05			ENSG00000070193	ENSG00000070193			3666	protein-coding gene	gene with protein product		602115				9287324	Standard	NM_004465		Approved		uc003jog.1	O15520	OTTHUMG00000131153	ENST00000264664.4:c.486T>C	5.37:g.44305238A>G			44340995	C7FDY0|Q6FHR3|Q6FHT6|Q96P59	Silent	SNP	superfamily_Cytok_IL1_like,HMMSmart_FGF,HMMPfam_FGF,PatternScan_HBGF_FGF	p.N162	ENST00000264664.4	37	c.486	CCDS3950.1	5																																																																																			-	superfamily_Cytok_IL1_like,HMMSmart_FGF,HMMPfam_FGF		0.383	FGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF10	protein_coding	OTTHUMT00000253845.2	A	NM_004465		44340995	-1	no_errors	NM_004465	genbank	human	reviewed	54_36p	silent	SNP	1.000	G
NCCRP1	342897	genome.wustl.edu	37	19	39691103	39691103	+	Silent	SNP	A	A	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr19:39691103A>T	ENST00000339852.4	+	5	688	c.666A>T	c.(664-666)ggA>ggT	p.G222G		NM_001001414.1	NP_001001414.1	Q6ZVX7	FBX50_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	222	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.				positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						CTGGGAGAGGACCCCCTGGCC	0.657																																					Melanoma(107;1207 1556 14956 29427 52130)											0			19											53.0	62.0	59.0					19																	39691103		2203	4298	6501	44382943	SO:0001819	synonymous_variant	342897			AK123941, BC067874	CCDS12529.1	19q13.2	2013-07-31	2008-11-19		ENSG00000188505	ENSG00000188505			33739	protein-coding gene	gene with protein product		615901					Standard	NM_001001414		Approved	LOC342897, NCCRP-1, FBXO50	uc002okq.1	Q6ZVX7		ENST00000339852.4:c.666A>T	19.37:g.39691103A>T			44382943	Q6NVV5	Silent	SNP	HMMPfam_FBA,superfamily_Gal_bind_like	p.G222	ENST00000339852.4	37	c.666	CCDS12529.1	19																																																																																			-	HMMPfam_FBA,superfamily_Gal_bind_like		0.657	NCCRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCCRP1	protein_coding	OTTHUMT00000463829.1	A	NM_001001414		44382943	+1	no_errors	NM_001001414	genbank	human	provisional	54_36p	silent	SNP	0.381	T
FANCM	57697	genome.wustl.edu	37	14	45645514	45645514	+	Missense_Mutation	SNP	A	A	C			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr14:45645514A>C	ENST00000267430.5	+	14	3642	c.3557A>C	c.(3556-3558)aAt>aCt	p.N1186T	FANCM_ENST00000542564.2_Missense_Mutation_p.N1160T	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1186					DNA repair (GO:0006281)|replication fork processing (GO:0031297)|resolution of meiotic recombination intermediates (GO:0000712)	FANCM-MHF complex (GO:0071821)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|nuclease activity (GO:0004518)			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TTGTTGGACAATAATTCTGAA	0.373								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																							0			14											88.0	93.0	91.0					14																	45645514		2203	4300	6503	44715264	SO:0001583	missense	57697	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001672	CCDS32070.1	14q21.3	2014-09-17	2005-09-01	2005-09-01		ENSG00000187790		"""Fanconi anemia, complementation groups"""	23168	protein-coding gene	gene with protein product		609644	"""KIAA1596"""	KIAA1596		10997877, 16116422	Standard	NM_020937		Approved	FAAP250	uc001wwd.4	Q8IYD8		ENST00000267430.5:c.3557A>C	14.37:g.45645514A>C	ENSP00000267430:p.Asn1186Thr		44715264	B2RTQ9|Q3YFH9|Q8N9X6|Q9HCH6	Missense_Mutation	SNP	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00487,HMMPfam_DEAD,HMMSmart_SM00490,HMMPfam_Helicase_C,superfamily_Restriction endonuclease-like,HMMPfam_ERCC4,superfamily_RuvA domain 2-like	p.N1186T	ENST00000267430.5	37	c.3557	CCDS32070.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	10.04|10.04	1.240568|1.240568	0.22711|0.22711	.|.	.|.	ENSG00000187790|ENSG00000187790	ENST00000267430;ENST00000542564;ENST00000556250|ENST00000554809	T;T;T|.	0.17691|.	2.86;2.86;2.26|.	5.61|5.61	-2.93|-2.93	0.05598|0.05598	.|.	0.839320|.	0.10950|.	N|.	0.616142|.	T|T	0.31358|0.31358	0.0794|0.0794	L|L	0.47716|0.47716	1.5|1.5	0.09310|0.09310	N|N	1|1	B;B|.	0.31125|.	0.309;0.309|.	B;B|.	0.26770|.	0.049;0.073|.	T|T	0.35624|0.35624	-0.9781|-0.9781	10|5	0.10377|.	T|.	0.69|.	.|.	1.7647|1.7647	0.02999|0.02999	0.3534:0.2366:0.2946:0.1154|0.3534:0.2366:0.2946:0.1154	.|.	1160;1186|.	B2RTQ9;Q8IYD8|.	.;FANCM_HUMAN|.	T|H	1186;1160;702|118	ENSP00000267430:N1186T;ENSP00000442493:N1160T;ENSP00000452033:N702T|.	ENSP00000267430:N1186T|.	N|Q	+|+	2|3	0|2	FANCM|FANCM	44715264|44715264	0.000000|0.000000	0.05858|0.05858	0.009000|0.009000	0.14445|0.14445	0.387000|0.387000	0.30353|0.30353	-0.229000|-0.229000	0.09098|0.09098	-0.140000|-0.140000	0.11394|0.11394	-0.462000|-0.462000	0.05337|0.05337	AAT|CAA	-	NULL		0.373	FANCM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCM	protein_coding	OTTHUMT00000410474.1	A	XM_048128		44715264	+1	no_errors	NM_020937	genbank	human	reviewed	54_36p	missense	SNP	0.006	C
CELF1	10658	genome.wustl.edu	37	11	47497019	47497019	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr11:47497019C>T	ENST00000358597.3	-	10	1057	c.1058G>A	c.(1057-1059)gGg>gAg	p.G353E	CELF1_ENST00000539455.1_5'Flank|CELF1_ENST00000395290.2_Missense_Mutation_p.G352E|CELF1_ENST00000361904.3_Missense_Mutation_p.G350E|CELF1_ENST00000532048.1_Missense_Mutation_p.G379E|CELF1_ENST00000310513.5_Missense_Mutation_p.G349E|CELF1_ENST00000531165.1_Missense_Mutation_p.G381E|CELF1_ENST00000395292.2_Missense_Mutation_p.G350E			Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	353					embryo development (GO:0009790)|germ cell development (GO:0007281)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of translation (GO:0017148)|positive regulation of multicellular organism growth (GO:0040018)|regulation of RNA splicing (GO:0043484)|RNA interference (GO:0016246)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	BRE binding (GO:0042835)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation repressor activity, nucleic acid binding (GO:0000900)			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						CATGGTGCTCCCGGTGCCATT	0.522																																					Pancreas(163;1949 1966 9906 43218 43785)											0			11											80.0	80.0	80.0					11																	47497019		2201	4298	6499	47453595	SO:0001583	missense	10658			U63289	CCDS7938.1, CCDS7939.1, CCDS31482.1, CCDS53622.1, CCDS53623.1	11p11	2013-02-12	2010-02-19	2010-02-19				"""RNA binding motif (RRM) containing"""	2549	protein-coding gene	gene with protein product	"""CUG RNA-binding protein"", ""nuclear polyadenylated RNA-binding protein, 50-kD"", ""bruno-like 2"", ""embryo deadenylation element binding protein"""	601074	"""CUG triplet repeat, RNA-binding protein 1"", ""CUG triplet repeat, RNA binding protein 1"""	CUGBP1		8948631, 9371827	Standard	NM_006560		Approved	CUG-BP, hNab50, BRUNOL2, NAB50, CUGBP, NAPOR, EDEN-BP	uc001nfl.3	Q92879		ENST00000358597.3:c.1058G>A	11.37:g.47497019C>T	ENSP00000351409:p.Gly353Glu		47453595	B4E2U5|D3DQS0|F8W940|Q4LE52|Q9NP83|Q9NR06	Missense_Mutation	SNP	superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1	p.G353E	ENST00000358597.3	37	c.1058	CCDS31482.1	11	.	.	.	.	.	.	.	.	.	.	C	25.7	4.665811	0.88251	.	.	ENSG00000149187	ENST00000395290;ENST00000358597;ENST00000395292;ENST00000310513;ENST00000361904;ENST00000531165;ENST00000532048	T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42	5.4	5.4	0.78164	.	0.214337	0.48286	N	0.000193	T	0.51991	0.1707	L	0.40543	1.245	0.80722	D	1	P;P;P;P;P;P	0.45078	0.85;0.85;0.85;0.85;0.85;0.767	P;P;P;P;P;B	0.44477	0.451;0.451;0.451;0.451;0.451;0.264	T	0.52268	-0.8598	10	0.45353	T	0.12	-6.0827	19.1802	0.93620	0.0:1.0:0.0:0.0	.	352;381;379;349;350;353	F8W940;G5EA30;Q92879-4;Q92879-2;Q92879-3;Q92879	.;.;.;.;.;CELF1_HUMAN	E	352;353;350;349;350;381;379	ENSP00000378705:G352E;ENSP00000351409:G353E;ENSP00000378706:G350E;ENSP00000308386:G349E;ENSP00000354639:G350E;ENSP00000436864:G381E;ENSP00000435926:G379E	ENSP00000308386:G349E	G	-	2	0	CELF1	47453595	0.995000	0.38212	1.000000	0.80357	0.994000	0.84299	3.261000	0.51530	2.537000	0.85549	0.557000	0.71058	GGG	-	NULL		0.522	CELF1-024	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CUGBP1	protein_coding	OTTHUMT00000398352.1	C	NM_006560		47453595	-1	no_errors	NM_001025596	genbank	human	reviewed	54_36p	missense	SNP	0.991	T
BCAS1	8537	genome.wustl.edu	37	20	52675234	52675234	+	Silent	SNP	G	G	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr20:52675234G>T	ENST00000395961.3	-	2	190	c.24C>A	c.(22-24)ccC>ccA	p.P8P	BCAS1_ENST00000371435.2_Silent_p.P8P|BCAS1_ENST00000411563.1_Intron|BCAS1_ENST00000371440.3_Silent_p.P8P	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	8						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			CAACTCTTTGGGGAACACTCA	0.393																																																0			20											178.0	181.0	180.0					20																	52675234		2203	4300	6503	52108641	SO:0001819	synonymous_variant	8537			AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.24C>A	20.37:g.52675234G>T			52108641	A0AVG5|Q68CZ3	Silent	SNP	NULL	p.P8	ENST00000395961.3	37	c.24	CCDS13444.1	20																																																																																			-	NULL		0.393	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAS1	protein_coding	OTTHUMT00000079766.2	G	NM_003657		52108641	-1	no_errors	NM_003657	genbank	human	reviewed	54_36p	silent	SNP	0.073	T
A1CF	29974	genome.wustl.edu	37	10	52619624	52619624	+	Missense_Mutation	SNP	C	C	T	rs529819396		TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr10:52619624C>T	ENST00000373993.1	-	1	121	c.77G>A	c.(76-78)cGc>cAc	p.R26H	A1CF_ENST00000373997.3_Missense_Mutation_p.R26H|A1CF_ENST00000373995.3_5'UTR|A1CF_ENST00000282641.2_Missense_Mutation_p.R26H|A1CF_ENST00000395489.2_5'UTR|A1CF_ENST00000374001.2_Missense_Mutation_p.R26H|A1CF_ENST00000395495.1_Missense_Mutation_p.R26H			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor	26					cytidine to uridine editing (GO:0016554)|gene expression (GO:0010467)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|protein stabilization (GO:0050821)	apolipoprotein B mRNA editing enzyme complex (GO:0030895)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						ATATCCTGTGCGCTGGACCAG	0.483													C|||	1	0.000199681	0.0	0.0	5008	,	,		17519	0.001		0.0	False		,,,				2504	0.0															0			10											91.0	81.0	84.0					10																	52619624		2203	4300	6503	52289630	SO:0001583	missense	29974			AF271790	CCDS7241.1, CCDS7242.1, CCDS7243.1, CCDS73133.1	10q21.1	2013-02-12			ENSG00000148584	ENSG00000148584		"""RNA binding motif (RRM) containing"""	24086	protein-coding gene	gene with protein product						11815617, 11072063	Standard	NM_014576		Approved	ACF, ASP, ACF64, ACF65, APOBEC1CF	uc001jjj.3	Q9NQ94	OTTHUMG00000018240	ENST00000373993.1:c.77G>A	10.37:g.52619624C>T	ENSP00000363105:p.Arg26His		52289630	A1L4F2|A8K7G7|B7ZM14|Q5SZQ0|Q9NQ93|Q9NQX8|Q9NQX9|Q9NXC9|Q9NZD3	Missense_Mutation	SNP	superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,superfamily_dsRNA-binding domain-like	p.R26H	ENST00000373993.1	37	c.77	CCDS7242.1	10	.	.	.	.	.	.	.	.	.	.	C	28.1	4.894296	0.91889	.	.	ENSG00000148584	ENST00000374001;ENST00000373993;ENST00000373997;ENST00000282641;ENST00000395495;ENST00000414883	T;T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;2.57;1.98	5.83	5.83	0.93111	.	1.126430	0.06545	N	0.743895	T	0.73877	0.3643	M	0.86502	2.82	0.80722	D	1	D;D	0.89917	0.982;1.0	P;D	0.74023	0.495;0.982	T	0.65639	-0.6119	10	0.87932	D	0	.	17.6277	0.88097	0.0:1.0:0.0:0.0	.	26;26	Q9NQ94;Q9NQ94-2	A1CF_HUMAN;.	H	26	ENSP00000363113:R26H;ENSP00000363105:R26H;ENSP00000363109:R26H;ENSP00000282641:R26H;ENSP00000378873:R26H;ENSP00000397953:R26H	ENSP00000282641:R26H	R	-	2	0	A1CF	52289630	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.944000	0.75940	2.770000	0.95276	0.655000	0.94253	CGC	-	superfamily_RNA-binding domain RBD		0.483	A1CF-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	A1CF	protein_coding	OTTHUMT00000048086.2	C	NM_014576		52289630	-1	no_errors	NM_138932	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
SIGLEC16	400709	genome.wustl.edu	37	19	50475188	50475188	+	RNA	SNP	C	C	A			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr19:50475188C>A	ENST00000602139.1	+	0	1134							A6NMB1	SIG16_HUMAN	sialic acid binding Ig-like lectin 16 (gene/pseudogene)						cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|lung(6)	10						AGCAGCCCCCCAGCCAGGCTG	0.652																																																0			19																																								55167000			400709			BC030222		19q13.33	2014-03-20	2008-08-04	2008-08-04	ENSG00000161643	ENSG00000161643		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24851	protein-coding gene	gene with protein product			"""sialic acid binding Ig-like lectin, pseudogene 16"""	SIGLECP16		11986327, 18629938	Standard	NR_002825		Approved	Siglec-P16	uc002prf.3	A6NMB1	OTTHUMG00000183074		19.37:g.50475188C>A			55167000		Missense_Mutation	SNP	superfamily_Immunoglobulin,HMMPfam_V-set,HMMSmart_SM00409,HMMPfam_C2-set_2,HMMSmart_SM00408,HMMPfam_ig,PatternScan_IG_MHC	p.P386Q	ENST00000602139.1	37	c.1157		19	.	.	.	.	.	.	.	.	.	.	C	14.61	2.586550	0.46110	.	.	ENSG00000161643	ENST00000417280;ENST00000456956	.	.	.	1.92	1.92	0.25849	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.224042	0.32175	N	0.006475	T	0.57066	0.2028	.	.	.	0.09310	N	0.999998	D	0.89917	1.0	D	0.87578	0.998	T	0.37934	-0.9684	8	0.87932	D	0	.	7.3351	0.26605	0.0:1.0:0.0:0.0	.	370	A6NMB1	SIG16_HUMAN	Q	398;370	.	ENSP00000396157:P398Q	P	+	2	0	SIGLEC16	55167000	0.007000	0.16637	0.206000	0.23566	0.307000	0.27823	0.944000	0.29043	1.396000	0.46663	0.407000	0.27541	CCA	-	superfamily_Immunoglobulin,HMMSmart_SM00409,HMMSmart_SM00408,HMMPfam_ig		0.652	SIGLEC16-001	KNOWN	basic	processed_transcript	SIGLECP16	pseudogene	OTTHUMT00000464979.1	C	NR_002825		55167000	+1	no_errors	ENST00000356298	ensembl	human	known	54_36p	missense	SNP	0.816	A
SRP72	6731	genome.wustl.edu	37	4	57354175	57354175	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr4:57354175G>A	ENST00000342756.5	+	12	1941	c.1220G>A	c.(1219-1221)gGc>gAc	p.G407D	SRP72_ENST00000510663.1_Missense_Mutation_p.G346D	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	407					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CATAAACCAGGCATGGTGAGT	0.279																																																0			4											57.0	60.0	59.0					4																	57354175		2193	4290	6483	57048932	SO:0001583	missense	6731			AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"""Tetratricopeptide (TTC) repeat domain containing"""	11303	protein-coding gene	gene with protein product		602122	"""signal recognition particle 72kD"""			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.1220G>A	4.37:g.57354175G>A	ENSP00000342181:p.Gly407Asp		57048932	G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	superfamily_SSF48452,HMMPfam_TPR_1,HMMPfam_SRP72	p.G407D	ENST00000342756.5	37	c.1220	CCDS3506.1	4	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467353	0.84533	.	.	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663;ENST00000505314	T;T	0.37584	1.19;1.19	4.91	4.91	0.64330	Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.63896	0.2550	M	0.84846	2.72	0.80722	D	1	D;D;D	0.89917	1.0;0.994;0.995	D;P;P	0.77004	0.989;0.887;0.86	T	0.67248	-0.5718	10	0.51188	T	0.08	.	15.9856	0.80151	0.0:0.0:1.0:0.0	.	346;407;407	G5E9Z8;Q86X80;O76094	.;.;SRP72_HUMAN	D	407;352;346;168	ENSP00000342181:G407D;ENSP00000424576:G346D	ENSP00000342181:G407D	G	+	2	0	SRP72	57048932	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	8.266000	0.89871	2.712000	0.92718	0.650000	0.86243	GGC	-	superfamily_SSF48452		0.279	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP72	protein_coding	OTTHUMT00000250782.7	G			57048932	+1	no_errors	NM_006947	genbank	human	validated	54_36p	missense	SNP	1.000	A
SLC16A7	9194	genome.wustl.edu	37	12	60098800	60098800	+	Splice_Site	SNP	G	G	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr12:60098800G>T	ENST00000261187.4	+	2	381		c.e2+1		SLC16A7_ENST00000543448.1_Splice_Site|SLC16A7_ENST00000547379.1_Splice_Site|SLC16A7_ENST00000549588.1_Splice_Site|SLC16A7_ENST00000552432.1_Splice_Site|SLC16A7_ENST00000549465.1_Splice_Site|SLC16A7_ENST00000552024.1_Splice_Site	NM_004731.4	NP_004722.2	O60669	MOT2_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 7						lactate transmembrane transport (GO:0035873)|pyruvate transmembrane transport (GO:1901475)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	lactate transmembrane transporter activity (GO:0015129)|pyruvate secondary active transmembrane transporter activity (GO:0005477)|pyruvate transmembrane transporter activity (GO:0050833)|secondary active monocarboxylate transmembrane transporter activity (GO:0015355)|symporter activity (GO:0015293)			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Gamma Hydroxybutyric Acid(DB01440)|Niflumic Acid(DB04552)|Probenecid(DB01032)|Pyruvic acid(DB00119)	TACGCAGGAGGTAAGCTTCTT	0.353																																																0			12											68.0	65.0	66.0					12																	60098800		2203	4300	6503	58385067	SO:0001630	splice_region_variant	9194			AF049608	CCDS8961.1	12q14.1	2013-07-18	2013-07-18		ENSG00000118596	ENSG00000118596		"""Solute carriers"""	10928	protein-coding gene	gene with protein product		603654	"""solute carrier family 16 (monocarboxylic acid transporters), member 7"""			9786900	Standard	NM_004731		Approved	MCT2	uc001sqt.4	O60669	OTTHUMG00000169923	ENST00000261187.4:c.217+1G>T	12.37:g.60098800G>T			58385067	Q8NEM3|Q9UPB3	Splice_Site	SNP	-	e1+1	ENST00000261187.4	37	c.217+1	CCDS8961.1	12	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679435	0.88542	.	.	ENSG00000118596	ENST00000552432;ENST00000547379;ENST00000549465;ENST00000552024;ENST00000548610;ENST00000261187	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3075	0.98634	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC16A7	58385067	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	9.718000	0.98758	2.880000	0.98712	0.650000	0.86243	.	-	-		0.353	SLC16A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A7	protein_coding	OTTHUMT00000406587.1	G	NM_004731	Intron	58385067	+1	no_errors	NM_004731	genbank	human	provisional	54_36p	splice_site	SNP	1.000	T
ICE2	79664	genome.wustl.edu	37	15	60740277	60740277	+	Silent	SNP	A	A	G			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr15:60740277A>G	ENST00000261520.4	-	11	2421	c.2187T>C	c.(2185-2187)aaT>aaC	p.N729N	NARG2_ENST00000439632.1_Silent_p.N592N	NM_024611.4	NP_078887.2														breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						TATAAACAAAATTTCCTTCCT	0.363																																																0			15											98.0	94.0	95.0					15																	60740277		2203	4300	6503	58527569	SO:0001819	synonymous_variant	79664																														ENST00000261520.4:c.2187T>C	15.37:g.60740277A>G			58527569		Silent	SNP	HMMPfam_NARG2_C	p.N729	ENST00000261520.4	37	c.2187	CCDS10176.1	15																																																																																			-	HMMPfam_NARG2_C		0.363	NARG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NARG2	protein_coding	OTTHUMT00000256136.1	A			58527569	-1	no_errors	NM_024611	genbank	human	validated	54_36p	silent	SNP	0.997	G
CCDC86	79080	genome.wustl.edu	37	11	60617762	60617762	+	Silent	SNP	G	G	A			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr11:60617762G>A	ENST00000227520.5	+	4	1101	c.1047G>A	c.(1045-1047)caG>caA	p.Q349Q	RP11-804A23.4_ENST00000538705.1_RNA|CCDC86_ENST00000545580.1_Silent_p.Q93Q	NM_024098.3	NP_077003.1	Q9H6F5	CCD86_HUMAN	coiled-coil domain containing 86	349					viral process (GO:0016032)	nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(2)|liver(2)|lung(2)|urinary_tract(3)	10						CCCTGCTGCAGAAGCAGCCGC	0.637																																																0			11											33.0	41.0	38.0					11																	60617762		2203	4299	6502	60374338	SO:0001819	synonymous_variant	79080			AK025974	CCDS7993.1	11q12.2	2006-03-16			ENSG00000110104	ENSG00000110104			28359	protein-coding gene	gene with protein product		611293					Standard	NM_024098		Approved	MGC2574	uc001nqa.2	Q9H6F5	OTTHUMG00000167706	ENST00000227520.5:c.1047G>A	11.37:g.60617762G>A			60374338	B4DY99	Silent	SNP	NULL	p.Q349	ENST00000227520.5	37	c.1047	CCDS7993.1	11																																																																																			-	NULL		0.637	CCDC86-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC86	protein_coding	OTTHUMT00000395743.1	G	NM_024098		60374338	+1	no_errors	NM_024098	genbank	human	validated	54_36p	silent	SNP	1.000	A
CLVS1	157807	genome.wustl.edu	37	8	62370995	62370995	+	Missense_Mutation	SNP	G	G	T	rs562615173		TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr8:62370995G>T	ENST00000519846.1	+	6	1343	c.871G>T	c.(871-873)Gac>Tac	p.D291Y	CLVS1_ENST00000325897.4_Missense_Mutation_p.D291Y|CLVS1_ENST00000518592.1_Missense_Mutation_p.D12Y			Q8IUQ0	CLVS1_HUMAN	clavesin 1	291					lysosome organization (GO:0007040)	clathrin-coated vesicle (GO:0030136)|endosome (GO:0005768)|membrane (GO:0016020)|trans-Golgi network (GO:0005802)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|transporter activity (GO:0005215)			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						ACTCGGTCCCGACTACAGCGA	0.478																																																0			8											106.0	93.0	97.0					8																	62370995		2203	4300	6503	62533549	SO:0001583	missense	157807			AY094971	CCDS6176.1	8q12.1	2009-10-14	2009-10-14	2009-10-14		ENSG00000177182			23139	protein-coding gene	gene with protein product		611292	"""retinaldehyde binding protein 1-like 1"""	RLBP1L1		16802092, 19651769	Standard	NM_173519		Approved	MGC34646, CRALBPL, C6orf212L	uc003xuh.3	Q8IUQ0		ENST00000519846.1:c.871G>T	8.37:g.62370995G>T	ENSP00000428402:p.Asp291Tyr		62533549	B2R7M5|C8UZT3|Q8NB32	Missense_Mutation	SNP	superfamily_CRAL/TRIO N-terminal domain,HMMPfam_CRAL_TRIO_N,HMMPfam_CRAL_TRIO,superfamily_CRAL/TRIO domain,HMMSmart_SM00516	p.D291Y	ENST00000519846.1	37	c.871	CCDS6176.1	8	.	.	.	.	.	.	.	.	.	.	G	29.4	5.002983	0.93287	.	.	ENSG00000177182	ENST00000519846;ENST00000518592;ENST00000325897;ENST00000520712	T;T	0.80304	-1.36;-1.36	5.43	5.43	0.79202	Cellular retinaldehyde-binding/triple function, C-terminal (2);	0.000000	0.85682	D	0.000000	T	0.81178	0.4768	N	0.19112	0.55	0.80722	D	1	D	0.69078	0.997	P	0.58172	0.834	T	0.82210	-0.0570	10	0.49607	T	0.09	-6.6879	19.4372	0.94801	0.0:0.0:1.0:0.0	.	291	Q8IUQ0	CLVS1_HUMAN	Y	291;12;291;12	ENSP00000428402:D291Y;ENSP00000325506:D291Y	ENSP00000325506:D291Y	D	+	1	0	CLVS1	62533549	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.155000	0.94700	2.827000	0.97445	0.650000	0.86243	GAC	-	superfamily_CRAL/TRIO domain		0.478	CLVS1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RLBP1L1	protein_coding	OTTHUMT00000378323.1	G	NM_173519		62533549	+1	no_errors	NM_173519	genbank	human	validated	54_36p	missense	SNP	0.995	T
ZNF772	400720	genome.wustl.edu	37	19	57984796	57984796	+	Missense_Mutation	SNP	C	C	A	rs375447706		TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr19:57984796C>A	ENST00000343280.4	-	5	1576	c.1316G>T	c.(1315-1317)tGt>tTt	p.C439F	ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.C327F|ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000356584.3_Missense_Mutation_p.C398F|ZNF772_ENST00000425074.3_3'UTR|AC004076.9_ENST00000596831.1_Intron|AC004076.9_ENST00000415705.3_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	439					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		GGCTTTTCCACATTCACTGCA	0.428																																					Melanoma(5;289 436 14293 15924 30817)											0			19											116.0	101.0	106.0					19																	57984796		2203	4300	6503	62676608	SO:0001583	missense	400720			BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"""Zinc fingers, C2H2-type"", ""-"""	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.1316G>T	19.37:g.57984796C>A	ENSP00000341165:p.Cys439Phe		62676608	A6NJK9|B4DH56|B4DYS0	Missense_Mutation	SNP	superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2	p.C439F	ENST00000343280.4	37	c.1316	CCDS33133.1	19	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578940	0.65878	.	.	ENSG00000197128	ENST00000343280;ENST00000427512;ENST00000356584;ENST00000291809	D;D;D	0.85861	-2.04;-2.04;-2.04	3.72	3.72	0.42706	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93648	0.7971	M	0.93854	3.465	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.999;0.998;0.997	D	0.94925	0.8077	9	0.87932	D	0	.	13.0178	0.58768	0.0:1.0:0.0:0.0	.	327;398;439	Q68DY9-2;A6NJK9;Q68DY9	.;.;ZN772_HUMAN	F	439;327;398;364	ENSP00000341165:C439F;ENSP00000395967:C327F;ENSP00000348992:C398F	ENSP00000291809:C364F	C	-	2	0	ZNF772	62676608	1.000000	0.71417	0.982000	0.44146	0.882000	0.50991	6.500000	0.73687	1.917000	0.55516	0.305000	0.20034	TGT	-	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1		0.428	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF772	protein_coding	OTTHUMT00000397447.1	C	NM_001024596		62676608	-1	no_errors	NM_001024596	genbank	human	validated	54_36p	missense	SNP	1.000	A
SPG21	51324	genome.wustl.edu	37	15	65261653	65261653	+	Missense_Mutation	SNP	T	T	C			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr15:65261653T>C	ENST00000204566.2	-	7	903	c.608A>G	c.(607-609)aAt>aGt	p.N203S	SPG21_ENST00000433215.2_Missense_Mutation_p.N203S|SPG21_ENST00000416889.2_Missense_Mutation_p.N176S|SPG21_ENST00000559199.1_Missense_Mutation_p.N49S	NM_016630.3	NP_057714.1	Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 (autosomal recessive, Mast syndrome)	203					antigen receptor-mediated signaling pathway (GO:0050851)|cell death (GO:0008219)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|nucleus (GO:0005634)|trans-Golgi network transport vesicle (GO:0030140)	CD4 receptor binding (GO:0042609)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						ATTTTGACAATTCAAGGTAAG	0.328																																																0			15											106.0	111.0	109.0					15																	65261653		2202	4299	6501	63048706	SO:0001583	missense	51324			AF208861	CCDS10198.1, CCDS45279.1	15q21-q22	2008-02-05	2007-04-23		ENSG00000090487	ENSG00000090487			20373	protein-coding gene	gene with protein product	"""maspardin"""	608181				11113139, 14564668	Standard	XM_006720564		Approved	ACP33, GL010, BM-019, MAST	uc002aoe.3	Q9NZD8	OTTHUMG00000133098	ENST00000204566.2:c.608A>G	15.37:g.65261653T>C	ENSP00000204566:p.Asn203Ser		63048706	B4DW44|Q6ZMB6	Missense_Mutation	SNP	superfamily_SSF53474,HMMPfam_Abhydrolase_1	p.N203S	ENST00000204566.2	37	c.608	CCDS10198.1	15	.	.	.	.	.	.	.	.	.	.	T	27.5	4.836343	0.91117	.	.	ENSG00000090487	ENST00000204566;ENST00000416889;ENST00000433215	T;T;T	0.66815	-0.23;-0.23;-0.23	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.81138	0.4760	M	0.84683	2.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.99	T	0.79351	-0.1839	10	0.08381	T	0.77	-13.526	15.2533	0.73564	0.0:0.0:0.0:1.0	.	176;203	Q9NZD8-2;Q9NZD8	.;SPG21_HUMAN	S	203;176;203	ENSP00000204566:N203S;ENSP00000394846:N176S;ENSP00000404111:N203S	ENSP00000204566:N203S	N	-	2	0	SPG21	63048706	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.673000	0.83973	2.271000	0.75665	0.528000	0.53228	AAT	-	superfamily_SSF53474		0.328	SPG21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPG21	protein_coding	OTTHUMT00000256758.3	T	NM_016630		63048706	-1	no_errors	NM_016630	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
YTHDF3	253943	genome.wustl.edu	37	8	64099737	64099737	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr8:64099737G>A	ENST00000539294.1	+	4	1481	c.1165G>A	c.(1165-1167)Gaa>Aaa	p.E389K	YTHDF3_ENST00000521674.1_3'UTR|YTHDF3_ENST00000542911.2_Missense_Mutation_p.E200K|YTHDF3_ENST00000517371.1_Intron	NM_001277817.1|NM_001277818.1|NM_152758.4	NP_001264746.1|NP_001264747.1|NP_689971.4	Q7Z739	YTHD3_HUMAN	YTH domain family, member 3	390							N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			TTCTAGTGTAGAAGTGCATCC	0.433																																																0			8											99.0	96.0	97.0					8																	64099737		1951	4147	6098	64262291	SO:0001583	missense	253943			BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"""YTH domain family 3"""			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000539294.1:c.1165G>A	8.37:g.64099737G>A	ENSP00000473496:p.Glu389Lys		64262291	B3KXL4|Q63Z37|Q659A3	Missense_Mutation	SNP	HMMPfam_YTH	p.E389K	ENST00000539294.1	37	c.1165		8																																																																																			-	NULL		0.433	YTHDF3-201	KNOWN	basic|appris_principal	protein_coding	YTHDF3	protein_coding		G	NM_152758		64262291	+1	no_stop_codon	ENST00000339066	ensembl	human	known	54_36p	missense	SNP	0.997	A
EIF4BP9	100129692	genome.wustl.edu	37	X	65295825	65295825	+	IGR	SNP	C	C	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chrX:65295825C>T								VSIG4 (35858 upstream) : HEPH (86565 downstream)																							ACGTGACAAACGCACTGCACT	0.408																																																0			X																																								65212550	SO:0001628	intergenic_variant	0																															X.37:g.65295825C>T			65212550		Missense_Mutation	SNP	HMMPfam_HSF_DNA-bind,superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1	p.R270H		37	c.809		X																																																																																			-	superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1	0	0.408					LOC100129692			C			65212550	-1	no_errors	XM_001721387	genbank	human	model	54_36p	missense	SNP	1.000	T
FAM65A	79567	genome.wustl.edu	37	16	67576753	67576753	+	Silent	SNP	C	C	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr16:67576753C>T	ENST00000379312.3	+	13	2197	c.2076C>T	c.(2074-2076)tcC>tcT	p.S692S	CTD-2012K14.4_ENST00000564717.1_RNA|FAM65A_ENST00000422602.2_Silent_p.S708S|CTD-2012K14.3_ENST00000563083.1_RNA|FAM65A_ENST00000042381.4_Silent_p.S688S|FAM65A_ENST00000428437.2_Silent_p.S702S|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000540839.3_Silent_p.S708S	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	692	Pro-rich.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CTACCCTCTCCAGCCCCTCCA	0.572																																																0			16											203.0	212.0	209.0					16																	67576753		2198	4300	6498	66134254	SO:0001819	synonymous_variant	79567			AK127792	CCDS10840.1, CCDS54026.1, CCDS54027.1, CCDS54028.1	16q22.1	2008-02-05			ENSG00000039523	ENSG00000039523			25836	protein-coding gene	gene with protein product						11572484	Standard	NM_001193522		Approved	FLJ13725	uc010vjp.2	Q6ZS17	OTTHUMG00000137536	ENST00000379312.3:c.2076C>T	16.37:g.67576753C>T			66134254	B4DEQ9|B4DIM2|E9PBS3|Q4G0A4|Q7Z5R7|Q8NDA4|Q96J39|Q96PV8|Q9H8D9	Silent	SNP	superfamily_ARM-type_fold	p.S688	ENST00000379312.3	37	c.2064	CCDS54028.1	16	.	.	.	.	.	.	.	.	.	.	C	11.74	1.729548	0.30684	.	.	ENSG00000039523	ENST00000428437	.	.	.	5.25	1.08	0.20341	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.5387	5.6557	0.17640	0.146:0.63:0.0:0.224	.	.	.	.	X	683	.	.	Q	+	1	0	FAM65A	66134254	0.003000	0.15002	0.936000	0.37596	0.159000	0.22180	0.321000	0.19558	0.614000	0.30107	-0.384000	0.06662	CAG	-	NULL		0.572	FAM65A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM65A	protein_coding	OTTHUMT00000268866.3	C	NM_024519		66134254	+1	no_errors	NM_024519	genbank	human	validated	54_36p	silent	SNP	0.672	T
Unknown	0	genome.wustl.edu	37	9	68774069	68774069	+	IGR	SNP	C	C	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr9:68774069C>T								CR786580.1 (260882 upstream) : AL353763.2 (223339 downstream)																							GATCATATAACGGTCCTGTAG	0.453																																																0			9																																								68163889	SO:0001628	intergenic_variant	0																															9.37:g.68774069C>T			68163889		Missense_Mutation	SNP	HMMPfam_PGM_PMM_I,superfamily_A-D-PHexomutase_a/b/a-I/II/III,PatternScan_PGM_PMM,HMMPfam_PGM_PMM_II,HMMPfam_PGM_PMM_III	p.R237H		37	c.710		9																																																																																			-	superfamily_A-D-PHexomutase_a/b/a-I/II/III,HMMPfam_PGM_PMM_II	0	0.453					PGM5P2			C			68163889	-1	no_errors	ENST00000377476	ensembl	human	known	54_36p	missense	SNP	1.000	T
GPR142	350383	genome.wustl.edu	37	17	72368475	72368475	+	Silent	SNP	C	C	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr17:72368475C>T	ENST00000335666.4	+	4	1173	c.1125C>T	c.(1123-1125)ttC>ttT	p.F375F		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	375						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.F375F(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CCCGGGTCTTCGTCATGCTCT	0.662																																																1	Substitution - coding silent(1)	large_intestine(1)	17											116.0	98.0	104.0					17																	72368475		2203	4300	6503	69880070	SO:0001819	synonymous_variant	350383			AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.1125C>T	17.37:g.72368475C>T			69880070	A4CYJ8|Q86SL3	Silent	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.F375	ENST00000335666.4	37	c.1125	CCDS11698.1	17																																																																																			-	superfamily_SSF81321,HMMPfam_7tm_1		0.662	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR142	protein_coding	OTTHUMT00000442545.1	C	NM_181790		69880070	+1	no_errors	NM_181790	genbank	human	provisional	54_36p	silent	SNP	0.007	T
HID1	283987	genome.wustl.edu	37	17	72959930	72959930	+	Missense_Mutation	SNP	T	T	G			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr17:72959930T>G	ENST00000425042.2	-	3	369	c.292A>C	c.(292-294)Agc>Cgc	p.S98R	HID1_ENST00000532900.1_5'UTR	NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	98					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											AGCAGCCGGCTGCAGTTCAGG	0.657																																																0			17											54.0	48.0	50.0					17																	72959930		2203	4300	6503	70471525	SO:0001583	missense	283987				CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"""downregulated in multiple cancer 1"""	605752	"""chromosome 17 open reading frame 28"""	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.292A>C	17.37:g.72959930T>G	ENSP00000413520:p.Ser98Arg		70471525	Q8N5L6|Q8TE83|Q9NT34	Missense_Mutation	SNP	HMMPfam_Hid1	p.S98R	ENST00000425042.2	37	c.292	CCDS32726.1	17	.	.	.	.	.	.	.	.	.	.	T	16.42	3.119301	0.56505	.	.	ENSG00000167861	ENST00000425042;ENST00000534480	.	.	.	4.83	3.63	0.41609	.	0.286719	0.37623	N	0.002005	T	0.30070	0.0753	N	0.14661	0.345	0.35509	D	0.800495	B;B	0.31752	0.338;0.096	B;B	0.36134	0.109;0.218	T	0.41893	-0.9483	9	0.72032	D	0.01	-31.9497	6.3573	0.21408	0.2245:0.0795:0.0:0.696	.	98;98	Q8IV36-2;Q8IV36	.;CQ028_HUMAN	R	98	.	ENSP00000413520:S98R	S	-	1	0	C17orf28	70471525	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.762000	0.47597	1.819000	0.53055	0.528000	0.53228	AGC	-	HMMPfam_Hid1		0.657	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf28	protein_coding	OTTHUMT00000390011.2	T	NM_030630		70471525	-1	no_errors	NM_030630	genbank	human	validated	54_36p	missense	SNP	1.000	G
LPHN2	23266	genome.wustl.edu	37	1	82436208	82436208	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr1:82436208A>G	ENST00000370728.1	+	18	3577	c.2932A>G	c.(2932-2934)Aca>Gca	p.T978A	LPHN2_ENST00000370723.1_Missense_Mutation_p.T965A|LPHN2_ENST00000271029.4_Missense_Mutation_p.T978A|LPHN2_ENST00000370730.1_Missense_Mutation_p.T978A|LPHN2_ENST00000335786.5_Missense_Mutation_p.T978A|LPHN2_ENST00000370717.2_Missense_Mutation_p.T978A|LPHN2_ENST00000359929.3_Missense_Mutation_p.T965A|LPHN2_ENST00000370721.1_Missense_Mutation_p.T903A|LPHN2_ENST00000394879.1_Missense_Mutation_p.T965A|LPHN2_ENST00000370713.1_Missense_Mutation_p.T965A|LPHN2_ENST00000370727.1_Missense_Mutation_p.T978A|LPHN2_ENST00000370725.1_Missense_Mutation_p.T978A|LPHN2_ENST00000319517.6_Missense_Mutation_p.T965A|LPHN2_ENST00000370715.1_Missense_Mutation_p.T965A|LPHN2_ENST00000469377.2_Intron			O95490	LPHN2_HUMAN	latrophilin 2	978					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GAGCTATGGAACAGAAAAAGC	0.373																																																0			1											83.0	83.0	83.0					1																	82436208		2203	4300	6503	82208796	SO:0001583	missense	23266			AJ131581	CCDS689.1, CCDS72811.1	1p31.1	2014-08-08	2003-03-17	2003-05-02	ENSG00000117114	ENSG00000117114		"""-"", ""GPCR / Class B : Orphans"""	18582	protein-coding gene	gene with protein product		607018	"""latrophilin 1"""	LPHH1		10760572	Standard	XR_248786		Approved	KIAA0786, LEC1	uc001diu.3	O95490	OTTHUMG00000009844	ENST00000370728.1:c.2932A>G	1.37:g.82436208A>G	ENSP00000359763:p.Thr978Ala		82208796	A5XEI2|B1ALT8|B1ALT9|B1ALU0|B1ALU2|B1ALU4|B1ALU5|B1ALU6|O94882|Q5VX76|Q9UKY5|Q9UKY6	Missense_Mutation	SNP	HMMPfam_Gal_Lectin,HMMPfam_OLF,HMMSmart_SM00284,HMMSmart_SM00008,HMMPfam_HRM,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2,HMMPfam_Latrophilin	p.T965A	ENST00000370728.1	37	c.2893		1	.	.	.	.	.	.	.	.	.	.	A	14.49	2.550227	0.45383	.	.	ENSG00000117114	ENST00000370721;ENST00000370728;ENST00000370730;ENST00000370727;ENST00000370725;ENST00000370723;ENST00000359929;ENST00000370715;ENST00000370713;ENST00000319517;ENST00000370717;ENST00000394879;ENST00000271029;ENST00000335786	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22	5.83	5.83	0.93111	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.26448	0.0646	M	0.75264	2.295	0.58432	D	0.999998	B;B;B;B	0.11235	0.002;0.001;0.001;0.004	B;B;B;B	0.16289	0.015;0.011;0.005;0.009	T	0.23119	-1.0197	10	0.72032	D	0.01	.	11.2595	0.49074	0.9291:0.0:0.0709:0.0	.	978;965;965;965	O95490;O95490-3;O95490-4;O95490-2	LPHN2_HUMAN;.;.;.	A	903;978;978;978;978;965;965;965;965;965;978;965;978;978	ENSP00000359756:T903A;ENSP00000359763:T978A;ENSP00000359765:T978A;ENSP00000359762:T978A;ENSP00000359760:T978A;ENSP00000359758:T965A;ENSP00000353006:T965A;ENSP00000359750:T965A;ENSP00000359748:T965A;ENSP00000322270:T965A;ENSP00000359752:T978A;ENSP00000378344:T965A;ENSP00000271029:T978A;ENSP00000337306:T978A	ENSP00000271029:T978A	T	+	1	0	LPHN2	82208796	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.538000	0.82048	2.229000	0.72834	0.533000	0.62120	ACA	-	HMMPfam_7tm_2		0.373	LPHN2-007	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	LPHN2	protein_coding	OTTHUMT00000027188.1	A	NM_012302		82208796	+1	no_errors	NM_012302	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
HERC3	8916	genome.wustl.edu	37	4	89575201	89575201	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr4:89575201T>A	ENST00000402738.1	+	7	933	c.694T>A	c.(694-696)Tct>Act	p.S232T	HERC3_ENST00000264345.3_Missense_Mutation_p.S232T|HERC3_ENST00000407637.1_Missense_Mutation_p.S232T	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	232					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		AGATCGAGAATCTCCATGCCA	0.363																																																0			4											89.0	90.0	90.0					4																	89575201		2203	4300	6503	89794224	SO:0001583	missense	8916			D25215	CCDS34028.1	4q21	2012-02-23	2012-02-23		ENSG00000138641	ENSG00000138641			4876	protein-coding gene	gene with protein product		605200	"""hect domain and RLD 3"""			10702688	Standard	NM_014606		Approved	KIAA0032	uc003hrw.2	Q15034	OTTHUMG00000150436	ENST00000402738.1:c.694T>A	4.37:g.89575201T>A	ENSP00000385684:p.Ser232Thr		89794224	A8K1S5|Q8IXX3	Missense_Mutation	SNP	superfamily_RCC1/BLIP-II,PatternScan_RCC1_2,HMMPfam_RCC1,superfamily_Hect E3 ligase catalytic domain,HMMSmart_SM00119,HMMPfam_HECT	p.S232T	ENST00000402738.1	37	c.694	CCDS34028.1	4	.	.	.	.	.	.	.	.	.	.	T	13.52	2.261082	0.39995	.	.	ENSG00000138641	ENST00000402738;ENST00000407637;ENST00000264345	D;D;D	0.83837	-1.77;-1.77;-1.77	5.12	5.12	0.69794	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.200790	0.47093	D	0.000249	T	0.67646	0.2915	N	0.11818	0.18	0.80722	D	1	B;B	0.18461	0.009;0.028	B;B	0.18263	0.021;0.012	T	0.63010	-0.6732	10	0.22706	T	0.39	.	11.1389	0.48392	0.0:0.0:0.1541:0.8459	.	232;232	Q15034;Q8IXX3	HERC3_HUMAN;.	T	232	ENSP00000385684:S232T;ENSP00000384005:S232T;ENSP00000264345:S232T	ENSP00000264345:S232T	S	+	1	0	HERC3	89794224	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	2.139000	0.42149	2.152000	0.67230	0.533000	0.62120	TCT	-	superfamily_RCC1/BLIP-II,HMMPfam_RCC1		0.363	HERC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC3	protein_coding	OTTHUMT00000318081.2	T	NM_014606		89794224	+1	no_errors	NM_014606	genbank	human	provisional	54_36p	missense	SNP	0.989	A
FBLN5	10516	genome.wustl.edu	37	14	92344024	92344024	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr14:92344024C>T	ENST00000342058.4	-	10	1585	c.992G>A	c.(991-993)cGc>cAc	p.R331H	FBLN5_ENST00000556961.1_5'Flank|FBLN5_ENST00000267620.10_Missense_Mutation_p.R372H|FBLN5_ENST00000556154.1_Missense_Mutation_p.R336H	NM_006329.3	NP_006320.2	Q9UBX5	FBLN5_HUMAN	fibulin 5	331	EGF-like 6; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell-matrix adhesion (GO:0007160)|elastic fiber assembly (GO:0048251)|extracellular matrix organization (GO:0030198)|protein localization to cell surface (GO:0034394)|regulation of cell growth (GO:0001558)|regulation of removal of superoxide radicals (GO:2000121)	elastic fiber (GO:0071953)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				ACACATACAGCGGCTGTGGAA	0.542																																																0			14											85.0	76.0	79.0					14																	92344024		2203	4300	6503	91413777	SO:0001583	missense	10516			AJ133490	CCDS9898.1	14q31	2014-09-17				ENSG00000140092		"""Fibulins"""	3602	protein-coding gene	gene with protein product		604580				10640802	Standard	NM_006329		Approved	EVEC, UP50, DANCE, ARMD3	uc001xzx.4	Q9UBX5		ENST00000342058.4:c.992G>A	14.37:g.92344024C>T	ENSP00000345008:p.Arg331His		91413777	O75966|Q6IAL4|Q6UWA3	Missense_Mutation	SNP	superfamily_EGF/Laminin,HMMPfam_EGF_CA,PatternScan_EGF_CA,HMMSmart_SM00179,superfamily_Serine proterase inhibitors,HMMSmart_SM00181,PatternScan_ASX_HYDROXYL,PatternScan_EGF_2	p.R331H	ENST00000342058.4	37	c.992	CCDS9898.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.16|17.16	3.318764|3.318764	0.60524|0.60524	.|.	.|.	ENSG00000140092|ENSG00000140092	ENST00000554121|ENST00000267620;ENST00000342058;ENST00000556154	.|D;D;D	.|0.91577	.|-2.87;-1.78;-2.87	6.17|6.17	6.17|6.17	0.99709|0.99709	.|.	.|0.057080	.|0.64402	.|D	.|0.000001	D|D	0.89434|0.89434	0.6714|0.6714	M|M	0.69358|0.69358	2.11|2.11	0.58432|0.58432	D|D	0.999991|0.999991	.|B;B;B	.|0.22276	.|0.067;0.022;0.007	.|B;B;B	.|0.16289	.|0.015;0.007;0.001	D|D	0.85385|0.85385	0.1122|0.1122	5|10	.|0.56958	.|D	.|0.05	.|.	14.9567|14.9567	0.71120|0.71120	0.0:0.9326:0.0:0.0674|0.0:0.9326:0.0:0.0674	.|.	.|372;336;331	.|G3XA98;G3V4U0;Q9UBX5	.|.;.;FBLN5_HUMAN	T|H	40|372;331;336	.|ENSP00000267620:R372H;ENSP00000345008:R331H;ENSP00000451982:R336H	.|ENSP00000267620:R428H	A|R	-|-	1|2	0|0	FBLN5|FBLN5	91413777|91413777	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.935000|0.935000	0.57460|0.57460	2.572000|2.572000	0.45999|0.45999	2.941000|2.941000	0.99782|0.99782	0.655000|0.655000	0.94253|0.94253	GCT|CGC	-	HMMPfam_EGF_CA,HMMSmart_SM00179,HMMSmart_SM00181,superfamily_EGF/Laminin		0.542	FBLN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBLN5	protein_coding	OTTHUMT00000411787.1	C			91413777	-1	no_errors	NM_006329	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
KDM4D	55693	genome.wustl.edu	37	11	94731825	94731825	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr11:94731825G>C	ENST00000335080.5	+	3	2121	c.1289G>C	c.(1288-1290)aGc>aCc	p.S430T	KDM4D_ENST00000536741.1_Missense_Mutation_p.S430T	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	430					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	blood microparticle (GO:0072562)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AAGAAGCCCAGCTCAACTCCA	0.587																																																0			11											73.0	73.0	73.0					11																	94731825		2201	4298	6499	94371473	SO:0001583	missense	55693			AK001113	CCDS8302.1	11q21	2012-03-28	2009-04-06	2009-04-06	ENSG00000186280	ENSG00000186280		"""Chromatin-modifying enzymes / K-demethylases"""	25498	protein-coding gene	gene with protein product		609766	"""jumonji domain containing 2D"""	JMJD2D		15138608	Standard	NM_018039		Approved	FLJ10251	uc001pfe.3	Q6B0I6	OTTHUMG00000167838	ENST00000335080.5:c.1289G>C	11.37:g.94731825G>C	ENSP00000334181:p.Ser430Thr		94371473	B3KPC4|Q0VF39|Q9NT41|Q9NW76	Missense_Mutation	SNP	HMMPfam_JmjN,HMMSmart_JmjC,HMMPfam_JmjC	p.S430T	ENST00000335080.5	37	c.1289	CCDS8302.1	11	.	.	.	.	.	.	.	.	.	.	G	0.840	-0.742152	0.03088	.	.	ENSG00000186280	ENST00000335080	T	0.27890	1.64	3.92	-1.43	0.08884	.	2.040860	0.03520	U	0.220847	T	0.13841	0.0335	N	0.04508	-0.205	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.20874	-1.0262	10	0.13108	T	0.6	0.008	7.5499	0.27790	0.6166:0.0:0.3834:0.0	.	430	Q6B0I6	KDM4D_HUMAN	T	430	ENSP00000334181:S430T	ENSP00000334181:S430T	S	+	2	0	KDM4D	94371473	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.031000	0.13710	-0.271000	0.09272	0.655000	0.94253	AGC	-	NULL		0.587	KDM4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JMJD2D	protein_coding	OTTHUMT00000396558.2	G	NM_018039		94371473	+1	no_errors	NM_018039	genbank	human	validated	54_36p	missense	SNP	0.000	C
PDE6C	5146	genome.wustl.edu	37	10	95380445	95380445	+	Silent	SNP	G	G	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr10:95380445G>T	ENST00000371447.3	+	2	675	c.537G>T	c.(535-537)ctG>ctT	p.L179L		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	179	GAF 1.				phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|visual perception (GO:0007601)	plasma membrane (GO:0005886)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)			Caffeine(DB00201)	CTAAGAACCTGCTGGCAACCC	0.428																																																0			10											112.0	107.0	109.0					10																	95380445		2203	4300	6503	95370435	SO:0001819	synonymous_variant	5146			U31973	CCDS7429.1	10q24	2013-01-23			ENSG00000095464	ENSG00000095464	3.1.4.17	"""Phosphodiesterases"""	8787	protein-coding gene	gene with protein product		600827					Standard	NM_006204		Approved	PDEA2, ACHM5, COD4	uc001kiu.4	P51160	OTTHUMG00000018775	ENST00000371447.3:c.537G>T	10.37:g.95380445G>T			95370435	A6NCR6|Q5VY29	Silent	SNP	superfamily_SSF55781,HMMPfam_GAF,HMMSmart_GAF,superfamily_SSF109604,HMMSmart_HDc,HMMPfam_PDEase_I,PatternScan_PDEASE_I	p.L179	ENST00000371447.3	37	c.537	CCDS7429.1	10																																																																																			-	superfamily_SSF55781,HMMPfam_GAF,HMMSmart_GAF		0.428	PDE6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE6C	protein_coding	OTTHUMT00000049437.1	G	NM_006204		95370435	+1	no_errors	NM_006204	genbank	human	validated	54_36p	silent	SNP	1.000	T
LRRK1	79705	genome.wustl.edu	37	15	101595398	101595398	+	Silent	SNP	G	G	A			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr15:101595398G>A	ENST00000388948.3	+	27	4661	c.4302G>A	c.(4300-4302)gaG>gaA	p.E1434E	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000284395.5_Silent_p.E1431E	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGGCCCCAGAGATCAGGCCTC	0.602																																																0			15											50.0	50.0	50.0					15																	101595398		1975	4145	6120	99412921	SO:0001819	synonymous_variant	79705			AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.4302G>A	15.37:g.101595398G>A			99412921		Silent	SNP	superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank,superfamily_L domain-like,HMMSmart_SM00364,HMMSmart_SM00369,HMMPfam_LRR_1,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Miro,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220	p.E1434	ENST00000388948.3	37	c.4302	CCDS42086.1	15																																																																																			-	superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMPfam_Pkinase,HMMSmart_SM00220		0.602	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRK1	protein_coding	OTTHUMT00000384567.2	G	NM_024652		99412921	+1	no_errors	NM_024652	genbank	human	validated	54_36p	silent	SNP	1.000	A
OBFC1	79991	genome.wustl.edu	37	10	105658748	105658748	+	Silent	SNP	G	G	A	rs577905006		TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr10:105658748G>A	ENST00000224950.3	-	6	635	c.468C>T	c.(466-468)gaC>gaT	p.D156D	OBFC1_ENST00000369764.1_Silent_p.D156D|OBFC1_ENST00000466828.1_5'UTR	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	156					positive regulation of DNA replication (GO:0045740)|telomere maintenance (GO:0000723)|telomere maintenance via telomere lengthening (GO:0010833)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nuclear chromosome, telomeric region (GO:0000784)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Stn1-Ten1 complex (GO:0070188)	single-stranded DNA binding (GO:0003697)|single-stranded telomeric DNA binding (GO:0043047)			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		ACACTGGGTCGTCCACTTTAT	0.423													G|||	1	0.000199681	0.0008	0.0	5008	,	,		23383	0.0		0.0	False		,,,				2504	0.0															0			10											85.0	79.0	81.0					10																	105658748		2203	4300	6503	105648738	SO:0001819	synonymous_variant	79991			BC017400	CCDS7552.1	10q25.1	2011-06-14				ENSG00000107960			26200	protein-coding gene	gene with protein product		613128				12477932	Standard	NM_024928		Approved	FLJ22559, bA541N10.2	uc001kxm.3	Q9H668		ENST00000224950.3:c.468C>T	10.37:g.105658748G>A			105648738	D3DR99|Q5TCZ0	Silent	SNP	superfamily_Nucleic_acid_OB,HMMPfam_tRNA_anti,HMMPfam_DUF1879	p.D156	ENST00000224950.3	37	c.468	CCDS7552.1	10																																																																																			-	superfamily_Nucleic_acid_OB		0.423	OBFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OBFC1	protein_coding	OTTHUMT00000050174.1	G	NM_024928		105648738	-1	no_errors	NM_024928	genbank	human	validated	54_36p	silent	SNP	0.984	A
ZNF462	58499	genome.wustl.edu	37	9	109689187	109689187	+	Silent	SNP	T	T	C			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr9:109689187T>C	ENST00000277225.5	+	3	3283	c.2994T>C	c.(2992-2994)ggT>ggC	p.G998G	ZNF462_ENST00000457913.1_Silent_p.G998G|ZNF462_ENST00000441147.2_5'Flank			Q96JM2	ZN462_HUMAN	zinc finger protein 462	998					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CTCGTGGTGGTGGTTTGCCAG	0.478																																																0			9											96.0	102.0	100.0					9																	109689187		2203	4300	6503	108729008	SO:0001819	synonymous_variant	58499			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.2994T>C	9.37:g.109689187T>C			108729008	Q5T0T4|Q8N408	Silent	SNP	superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,HMMPfam_zf-C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_beta-sandwich domain of Sec23/24	p.G998	ENST00000277225.5	37	c.2994	CCDS35096.1	9																																																																																			-	superfamily_beta-sandwich domain of Sec23/24		0.478	ZNF462-001	KNOWN	basic|CCDS	protein_coding	ZNF462	protein_coding	OTTHUMT00000053532.2	T	NM_021224		108729008	+1	no_errors	NM_021224	genbank	human	validated	54_36p	silent	SNP	0.996	C
PHLDB2	90102	genome.wustl.edu	37	3	111604069	111604069	+	Missense_Mutation	SNP	A	A	G			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr3:111604069A>G	ENST00000431670.2	+	2	1556	c.1145A>G	c.(1144-1146)aAc>aGc	p.N382S	PHLDB2_ENST00000412622.1_Missense_Mutation_p.N382S|PHLDB2_ENST00000393923.3_Missense_Mutation_p.N409S|PHLDB2_ENST00000478922.1_Missense_Mutation_p.N382S|PHLDB2_ENST00000477695.1_Missense_Mutation_p.N382S|PHLDB2_ENST00000393925.3_Missense_Mutation_p.N382S|PHLDB2_ENST00000481953.1_Missense_Mutation_p.N382S	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	382						cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						ACCAGGAGGAACTTCTCTTGT	0.512																																																0			3											85.0	85.0	85.0					3																	111604069		2203	4300	6503	113086759	SO:0001583	missense	90102				CCDS2962.1, CCDS46885.1, CCDS46886.1	3q13.13	2013-01-10			ENSG00000144824	ENSG00000144824		"""Pleckstrin homology (PH) domain containing"""	29573	protein-coding gene	gene with protein product		610298				12376540	Standard	NM_145753		Approved	LL5beta, FLJ21791, LL5b	uc003dyg.3	Q86SQ0	OTTHUMG00000159282	ENST00000431670.2:c.1145A>G	3.37:g.111604069A>G	ENSP00000405405:p.Asn382Ser		113086759	A5PKZ3|Q59EA8|Q68CY3|Q6NT98|Q8N8U8|Q8NAB1|Q8NCU5	Missense_Mutation	SNP	superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH	p.N382S	ENST00000431670.2	37	c.1145	CCDS46886.1	3	.	.	.	.	.	.	.	.	.	.	A	15.71	2.913584	0.52439	.	.	ENSG00000144824	ENST00000359729;ENST00000393923;ENST00000431670;ENST00000412622;ENST00000498699;ENST00000478922;ENST00000477695;ENST00000393925;ENST00000481953	T;T;T;T;T;T	0.28666	1.6;1.6;1.61;1.62;1.6;1.61	5.78	5.78	0.91487	.	0.446886	0.26808	N	0.022382	T	0.20210	0.0486	N	0.11064	0.09	0.34877	D	0.744209	B;P;P;B;B	0.52316	0.156;0.873;0.952;0.417;0.417	B;B;P;B;B	0.47626	0.039;0.291;0.552;0.085;0.124	T	0.08638	-1.0712	10	0.07482	T	0.82	.	13.9178	0.63911	1.0:0.0:0.0:0.0	.	382;382;382;382;409	Q86SQ0;G5E9V3;E9PDY7;Q86SQ0-2;Q86SQ0-3	PHLB2_HUMAN;.;.;.;.	S	409;409;382;382;382;382;382;382;382	ENSP00000377500:N409S;ENSP00000405405:N382S;ENSP00000405292:N382S;ENSP00000418296:N382S;ENSP00000377502:N382S;ENSP00000418319:N382S	ENSP00000352764:N409S	N	+	2	0	PHLDB2	113086759	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	4.485000	0.60279	2.333000	0.79357	0.533000	0.62120	AAC	-	NULL		0.512	PHLDB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHLDB2	protein_coding	OTTHUMT00000354337.1	A	NM_145753		113086759	+1	no_errors	NM_145753	genbank	human	validated	54_36p	missense	SNP	1.000	G
ADAM30	11085	genome.wustl.edu	37	1	120438205	120438205	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr1:120438205G>A	ENST00000369400.1	-	1	913	c.755C>T	c.(754-756)gCt>gTt	p.A252V		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	252	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TACTTCAAGAGCCTTTAAGTG	0.338																																																0			1											87.0	91.0	90.0					1																	120438205		2203	4300	6503	120239728	SO:0001583	missense	11085			AF171932	CCDS907.1	1p12	2012-05-16	2005-08-18		ENSG00000134249	ENSG00000134249		"""ADAM metallopeptidase domain containing"""	208	protein-coding gene	gene with protein product		604779	"""a disintegrin and metalloproteinase domain 30"""				Standard	NM_021794		Approved	svph4	uc001eij.3	Q9UKF2	OTTHUMG00000012176	ENST00000369400.1:c.755C>T	1.37:g.120438205G>A	ENSP00000358407:p.Ala252Val		120239728	A8K8W8|Q5T3X6|Q9UKF1	Missense_Mutation	SNP	"HMMPfam_Pep_M12B_propep,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin,HMMPfam_Disintegrin,HMMSmart_SM00050,superfamily_Blood coagulation inhibitor (disintegrin),PatternScan_DISINTEGRIN_1,HMMSmart_SM00608,HMMPfam_ADAM_CR,PatternScan_EGF_2"	p.A252V	ENST00000369400.1	37	c.755	CCDS907.1	1	.	.	.	.	.	.	.	.	.	.	G	14.00	2.403588	0.42613	.	.	ENSG00000134249	ENST00000369400;ENST00000543066	T	0.10860	2.83	4.67	-0.778	0.10977	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.299086	0.23459	N	0.047947	T	0.09335	0.0230	M	0.68593	2.085	0.09310	N	1	P	0.38745	0.645	P	0.50537	0.643	T	0.10847	-1.0612	10	0.87932	D	0	.	9.7374	0.40397	0.0858:0.5645:0.3497:0.0	.	252	Q9UKF2	ADA30_HUMAN	V	252	ENSP00000358407:A252V	ENSP00000358407:A252V	A	-	2	0	ADAM30	120239728	0.000000	0.05858	0.000000	0.03702	0.076000	0.17211	-1.318000	0.02705	-0.323000	0.08602	0.563000	0.77884	GCT	-	"superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Reprolysin"		0.338	ADAM30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM30	protein_coding	OTTHUMT00000033678.1	G	NM_021794		120239728	-1	no_errors	NM_021794	genbank	human	reviewed	54_36p	missense	SNP	0.002	A
OR8D4	338662	genome.wustl.edu	37	11	123777825	123777825	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr11:123777825C>G	ENST00000321355.2	+	1	717	c.687C>G	c.(685-687)caC>caG	p.H229Q		NM_001005197.1	NP_001005197.1	Q8NGM9	OR8D4_HUMAN	olfactory receptor, family 8, subfamily D, member 4	229						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGCGCATCCACTCTAAAAAGG	0.433																																																0			11											103.0	102.0	102.0					11																	123777825		2202	4299	6501	123283035	SO:0001583	missense	338662			AB065761	CCDS31698.1	11q24.1	2012-08-09			ENSG00000181518	ENSG00000181518		"""GPCR / Class A : Olfactory receptors"""	14840	protein-coding gene	gene with protein product							Standard	NM_001005197		Approved		uc010saa.2	Q8NGM9	OTTHUMG00000165960	ENST00000321355.2:c.687C>G	11.37:g.123777825C>G	ENSP00000325381:p.His229Gln		123283035	Q6IFE9	Missense_Mutation	SNP	superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1	p.H229Q	ENST00000321355.2	37	c.687	CCDS31698.1	11	.	.	.	.	.	.	.	.	.	.	C	7.311	0.614930	0.14129	.	.	ENSG00000181518	ENST00000321355	T	0.35605	1.3	5.81	-0.494	0.12034	GPCR, rhodopsin-like superfamily (1);	1.095760	0.07015	N	0.825811	T	0.20659	0.0497	N	0.13352	0.335	0.09310	N	0.999991	B	0.14805	0.011	B	0.18871	0.023	T	0.26643	-1.0097	10	0.35671	T	0.21	.	5.9819	0.19411	0.1258:0.3875:0.0:0.4867	.	229	Q8NGM9	OR8D4_HUMAN	Q	229	ENSP00000325381:H229Q	ENSP00000325381:H229Q	H	+	3	2	OR8D4	123283035	0.000000	0.05858	0.006000	0.13384	0.748000	0.42578	-3.749000	0.00376	-0.351000	0.08249	0.655000	0.94253	CAC	-	superfamily_SSF81321,HMMPfam_7tm_1		0.433	OR8D4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D4	protein_coding	OTTHUMT00000387262.1	C	NM_001005197		123283035	+1	no_errors	NM_001005197	genbank	human	provisional	54_36p	missense	SNP	0.002	G
ADAD1	132612	genome.wustl.edu	37	4	123302167	123302167	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr4:123302167C>A	ENST00000296513.2	+	4	378	c.193C>A	c.(193-195)Ctt>Att	p.L65I	ADAD1_ENST00000388724.2_Missense_Mutation_p.L65I|ADAD1_ENST00000492454.1_3'UTR|ADAD1_ENST00000388725.2_Missense_Mutation_p.L47I	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	65					multicellular organismal development (GO:0007275)|RNA processing (GO:0006396)|spermatid development (GO:0007286)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						AGAGCCGTTGCTTTCCAAGAA	0.318																																																0			4											67.0	70.0	69.0					4																	123302167		2203	4300	6503	123521617	SO:0001583	missense	132612			AK057303	CCDS34058.1, CCDS54800.1, CCDS54801.1	4q27	2007-05-31			ENSG00000164113	ENSG00000164113			30713	protein-coding gene	gene with protein product		614130				7543294, 9541871	Standard	NM_139243		Approved	Tenr	uc003iep.3	Q96M93	OTTHUMG00000150128	ENST00000296513.2:c.193C>A	4.37:g.123302167C>A	ENSP00000296513:p.Leu65Ile		123521617	A6NKN4|B7WPB0|D3DNX2|Q8IWG6|Q8NA06	Missense_Mutation	SNP	superfamily_dsRNA-binding domain-like,HMMPfam_dsrm,HMMSmart_SM00358,HMMSmart_SM00552,PatternScan_THIOL_PROTEASE_HIS,HMMPfam_A_deamin	p.L65I	ENST00000296513.2	37	c.193	CCDS34058.1	4	.	.	.	.	.	.	.	.	.	.	C	9.371	1.070494	0.20147	.	.	ENSG00000164113	ENST00000446706;ENST00000296513;ENST00000439307;ENST00000388724;ENST00000388725	T;T;T	0.38077	1.16;1.17;1.19	5.23	1.59	0.23543	.	0.265860	0.21547	N	0.072795	T	0.26412	0.0645	L	0.32530	0.975	0.29358	N	0.864901	B;B	0.33103	0.348;0.397	B;B	0.38755	0.281;0.176	T	0.19745	-1.0296	10	0.21540	T	0.41	-9.5607	7.94	0.29952	0.0:0.5868:0.0:0.4132	.	65;65	Q96M93-2;Q96M93	.;ADAD1_HUMAN	I	65;65;65;65;47	ENSP00000296513:L65I;ENSP00000373376:L65I;ENSP00000373377:L47I	ENSP00000296513:L65I	L	+	1	0	ADAD1	123521617	0.010000	0.17322	0.970000	0.41538	0.133000	0.20885	-0.182000	0.09726	0.222000	0.20900	0.563000	0.77884	CTT	-	NULL		0.318	ADAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAD1	protein_coding	OTTHUMT00000316452.1	C	NM_139243		123521617	+1	no_errors	NM_139243	genbank	human	provisional	54_36p	missense	SNP	0.732	A
MKLN1	4289	genome.wustl.edu	37	7	131084026	131084026	+	Silent	SNP	T	T	A			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr7:131084026T>A	ENST00000352689.6	+	6	577	c.537T>A	c.(535-537)ctT>ctA	p.L179L	MKLN1_ENST00000421797.2_Silent_p.L87L|MKLN1_ENST00000429546.1_3'UTR	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	179	LisH. {ECO:0000255|PROSITE- ProRule:PRU00126}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					CTATTCGCCTTTGCCTAAAAC	0.378																																																0			7											131.0	132.0	131.0					7																	131084026		2203	4300	6503	130734566	SO:0001819	synonymous_variant	4289			AF047489	CCDS34754.1	7q32	2008-07-18			ENSG00000128585	ENSG00000128585			7109	protein-coding gene	gene with protein product		605623				10640805	Standard	NM_001145354		Approved	TWA2	uc011kpm.2	Q9UL63	OTTHUMG00000154880	ENST00000352689.6:c.537T>A	7.37:g.131084026T>A			130734566	A4D1M8|A6NG43|Q9NSK4|Q9NUS8	Silent	SNP	superfamily_Galactose-binding domain-like,HMMPfam_Muskelin_N,HMMSmart_SM00667,HMMPfam_Kelch_1,superfamily_Galactose oxidase central domain	p.L179	ENST00000352689.6	37	c.537	CCDS34754.1	7																																																																																			-	HMMPfam_Muskelin_N,HMMSmart_SM00667		0.378	MKLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MKLN1	protein_coding	OTTHUMT00000337473.4	T	NM_013255		130734566	+1	no_errors	NM_013255	genbank	human	validated	54_36p	silent	SNP	1.000	A
PCDH10	57575	genome.wustl.edu	37	4	134073742	134073742	+	Missense_Mutation	SNP	A	A	G	rs199658438		TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr4:134073742A>G	ENST00000264360.5	+	1	3273	c.2447A>G	c.(2446-2448)aAc>aGc	p.N816S		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	816					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CACCACCACAACCAGAATTAC	0.577																																																0			4											79.0	69.0	73.0					4																	134073742		2203	4300	6503	134293192	SO:0001583	missense	57575			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.2447A>G	4.37:g.134073742A>G	ENSP00000264360:p.Asn816Ser		134293192	Q4W5F6|Q96SF0	Missense_Mutation	SNP	HMMPfam_Cadherin_2,superfamily_Cadherin-like,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin,PatternScan_EGF_1	p.N816S	ENST00000264360.5	37	c.2447	CCDS34063.1	4	.	.	.	.	.	.	.	.	.	.	A	1.397	-0.579211	0.03854	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.50548	0.74	5.01	2.36	0.29203	.	0.133960	0.34067	N	0.004294	T	0.13756	0.0333	N	0.00677	-1.265	0.47153	D	0.999337	B;B	0.23540	0.087;0.001	B;B	0.17433	0.018;0.001	T	0.28839	-1.0031	10	0.05721	T	0.95	.	11.1991	0.48730	0.7084:0.2916:0.0:0.0	.	816;816	Q9P2E7;Q96SF0	PCD10_HUMAN;.	S	816	ENSP00000264360:N816S	ENSP00000264360:N816S	N	+	2	0	PCDH10	134293192	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.793000	0.47845	0.736000	0.32559	0.459000	0.35465	AAC	-	NULL		0.577	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	protein_coding	OTTHUMT00000364457.2	A	NM_032961		134293192	+1	no_errors	NM_032961	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
SLC35D3	340146	genome.wustl.edu	37	6	137245635	137245635	+	Missense_Mutation	SNP	C	C	G	rs141505785	byFrequency	TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr6:137245635C>G	ENST00000331858.4	+	2	1217	c.1052C>G	c.(1051-1053)gCa>gGa	p.A351G		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	351					carbohydrate transport (GO:0008643)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		GGTGGGGAGGCAGCAGGTGGC	0.682																																																0			6											38.0	40.0	40.0					6																	137245635		2203	4300	6503	137287328	SO:0001583	missense	340146				CCDS34544.1	6q23.2	2013-05-22			ENSG00000182747	ENSG00000182747		"""Solute carriers"""	15621	protein-coding gene	gene with protein product		612519		FRCL1			Standard	NM_001008783		Approved		uc003qhe.3	Q5M8T2	OTTHUMG00000015651	ENST00000331858.4:c.1052C>G	6.37:g.137245635C>G	ENSP00000333591:p.Ala351Gly		137287328	B4DI58|Q5QNZ6|Q6NX71	Missense_Mutation	SNP	HMMPfam_UAA	p.A351G	ENST00000331858.4	37	c.1052	CCDS34544.1	6	.	.	.	.	.	.	.	.	.	.	C	2.064	-0.414612	0.04766	.	.	ENSG00000182747	ENST00000331858	T	0.56103	0.48	6.06	1.22	0.21188	.	0.885835	0.09970	N	0.732419	T	0.12475	0.0303	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30880	-0.9963	10	0.27785	T	0.31	0.0043	5.7914	0.18363	0.2091:0.4691:0.2588:0.063	.	351	Q5M8T2	S35D3_HUMAN	G	351	ENSP00000333591:A351G	ENSP00000333591:A351G	A	+	2	0	SLC35D3	137287328	0.937000	0.31787	0.740000	0.30986	0.127000	0.20565	0.750000	0.26334	-0.063000	0.13065	-0.181000	0.13052	GCA	-	NULL		0.682	SLC35D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35D3	protein_coding	OTTHUMT00000042389.2	C	XM_294017		137287328	+1	no_errors	NM_001008783	genbank	human	provisional	54_36p	missense	SNP	0.342	G
PCDHB2	56133	genome.wustl.edu	37	5	140476703	140476703	+	Missense_Mutation	SNP	G	G	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr5:140476703G>T	ENST00000194155.4	+	1	2477	c.2329G>T	c.(2329-2331)Gtt>Ttt	p.V777F		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN	protocadherin beta 2	777					calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCCAACTTCGTTGCTCAGGG	0.507																																																0			5											89.0	92.0	91.0					5																	140476703		2203	4297	6500	140456887	SO:0001583	missense	56133			AF152495	CCDS4244.1	5q31	2010-01-26			ENSG00000112852	ENSG00000112852		"""Cadherins / Protocadherins : Clustered"""	8687	other	protocadherin		606328				10380929	Standard	NM_018936		Approved	PCDH-BETA2	uc003lil.3	Q9Y5E7	OTTHUMG00000129606	ENST00000194155.4:c.2329G>T	5.37:g.140476703G>T	ENSP00000194155:p.Val777Phe		140456887	Q4KMU1	Missense_Mutation	SNP	HMMPfam_Cadherin,HMMSmart_CA,PatternScan_CADHERIN_1,HMMPfam_Cadherin_2,superfamily_Cadherin	p.V777F	ENST00000194155.4	37	c.2329	CCDS4244.1	5	.	.	.	.	.	.	.	.	.	.	G	0.041	-1.284377	0.01398	.	.	ENSG00000112852	ENST00000194155	T	0.14766	2.48	4.34	3.46	0.39613	.	.	.	.	.	T	0.08846	0.0219	N	0.19112	0.55	0.09310	N	0.999996	B	0.06786	0.001	B	0.09377	0.004	T	0.28996	-1.0026	9	0.37606	T	0.19	.	7.488	0.27445	0.0:0.7328:0.1733:0.0939	.	777	Q9Y5E7	PCDB2_HUMAN	F	777	ENSP00000194155:V777F	ENSP00000194155:V777F	V	+	1	0	PCDHB2	140456887	0.000000	0.05858	0.499000	0.27577	0.170000	0.22686	-0.062000	0.11674	0.936000	0.37367	-0.153000	0.13522	GTT	-	NULL		0.507	PCDHB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB2	protein_coding	OTTHUMT00000251801.2	G	NM_018936		140456887	+1	no_errors	NM_018936	genbank	human	reviewed	54_36p	missense	SNP	0.001	T
PCDHB4	56131	genome.wustl.edu	37	5	140502109	140502109	+	Missense_Mutation	SNP	T	T	A			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr5:140502109T>A	ENST00000194152.1	+	1	529	c.529T>A	c.(529-531)Ttt>Att	p.F177I	AC005754.8_ENST00000606030.1_lincRNA	NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN	protocadherin beta 4	177	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATTCTCATTTTCACATTCT	0.453																																																0			5											58.0	59.0	59.0					5																	140502109		2203	4300	6503	140482293	SO:0001583	missense	56131			AF152497	CCDS4246.1	5q31	2010-01-26			ENSG00000081818	ENSG00000081818		"""Cadherins / Protocadherins : Clustered"""	8689	other	protocadherin		606330				10380929	Standard	NM_018938		Approved	PCDH-BETA4	uc003lip.1	Q9Y5E5	OTTHUMG00000129617	ENST00000194152.1:c.529T>A	5.37:g.140502109T>A	ENSP00000194152:p.Phe177Ile		140482293	Q4V761	Missense_Mutation	SNP	HMMPfam_Cadherin_2,superfamily_Cadherin,PatternScan_CADHERIN_1,HMMPfam_Cadherin,HMMSmart_CA	p.F177I	ENST00000194152.1	37	c.529	CCDS4246.1	5	.	.	.	.	.	.	.	.	.	.	T	20.1	3.938392	0.73557	.	.	ENSG00000081818	ENST00000194152	T	0.71934	-0.61	4.56	4.56	0.56223	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.90807	0.7113	H	0.99851	4.845	0.43879	D	0.996492	D	0.58620	0.983	D	0.64321	0.924	D	0.94699	0.7881	9	0.87932	D	0	.	14.3668	0.66810	0.0:0.0:0.0:1.0	.	177	Q9Y5E5	PCDB4_HUMAN	I	177	ENSP00000194152:F177I	ENSP00000194152:F177I	F	+	1	0	PCDHB4	140482293	1.000000	0.71417	0.998000	0.56505	0.983000	0.72400	5.701000	0.68325	2.033000	0.60031	0.533000	0.62120	TTT	-	superfamily_Cadherin,HMMPfam_Cadherin,HMMSmart_CA		0.453	PCDHB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB4	protein_coding	OTTHUMT00000251812.2	T	NM_018938		140482293	+1	no_errors	NM_018938	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
RPL8	6132	genome.wustl.edu	37	8	146015206	146015206	+	Missense_Mutation	SNP	G	G	C			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr8:146015206G>C	ENST00000262584.3	-	6	989	c.757C>G	c.(757-759)Cag>Gag	p.Q253E	RPL8_ENST00000529163.1_5'UTR|ZNF34_ENST00000343459.4_5'Flank|ZNF34_ENST00000429371.2_5'Flank|RPL8_ENST00000394920.2_Missense_Mutation_p.Q253E|RPL8_ENST00000527914.1_Missense_Mutation_p.Q144E|RPL8_ENST00000528957.1_Missense_Mutation_p.Q253E	NM_000973.3	NP_000964.1	P62917	RL8_HUMAN	ribosomal protein L8	253					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			kidney(12)|lung(7)|prostate(1)	20	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;5.47e-39)|OV - Ovarian serous cystadenocarcinoma(54;6.38e-39)|all cancers(56;5.47e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.191)		TCTTTCTCCTGCACAGTCTTG	0.602																																																0			8											144.0	148.0	147.0					8																	146015206		2203	4300	6503	145986010	SO:0001583	missense	6132			Z28407	CCDS6433.1	8q24.3	2011-04-06			ENSG00000161016	ENSG00000161016		"""L ribosomal proteins"""	10368	protein-coding gene	gene with protein product		604177				7506540, 9582194	Standard	NM_033301		Approved	L8	uc003zec.3	P62917	OTTHUMG00000165249	ENST00000262584.3:c.757C>G	8.37:g.146015206G>C	ENSP00000262584:p.Gln253Glu		145986010	A8K094|D3DWN2|P25120|Q567Q7|Q969V7|Q9BWQ9	Missense_Mutation	SNP	superfamily_Nucleic acid-binding proteins,HMMPfam_Ribosomal_L2,HMMPfam_Ribosomal_L2_C,superfamily_Translation proteins SH3-like domain,PatternScan_RIBOSOMAL_L2	p.Q253E	ENST00000262584.3	37	c.757	CCDS6433.1	8	.	.	.	.	.	.	.	.	.	.	G	17.49	3.401497	0.62288	.	.	ENSG00000161016	ENST00000394920;ENST00000527914;ENST00000262584;ENST00000534813;ENST00000533397	T;T;T	0.41065	1.01;1.01;1.01	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.32585	0.0834	N	0.26042	0.785	0.80722	D	1	B;B	0.12013	0.0;0.005	B;B	0.11329	0.0;0.006	T	0.08806	-1.0704	10	0.42905	T	0.14	-5.2294	15.6573	0.77150	0.0:0.0:1.0:0.0	.	253;217	P62917;E9PIZ3	RL8_HUMAN;.	E	253;144;253;217;232	ENSP00000378378:Q253E;ENSP00000262584:Q253E;ENSP00000435313:Q232E	ENSP00000262584:Q253E	Q	-	1	0	RPL8	145986010	1.000000	0.71417	0.998000	0.56505	0.912000	0.54170	8.425000	0.90270	2.364000	0.80123	0.555000	0.69702	CAG	-	NULL		0.602	RPL8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL8	protein_coding	OTTHUMT00000382948.1	G	NM_000973		145986010	-1	no_errors	NM_000973	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
SETDB1	9869	genome.wustl.edu	37	1	150915106	150915106	+	Silent	SNP	G	G	C			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr1:150915106G>C	ENST00000271640.5	+	6	805	c.615G>C	c.(613-615)ctG>ctC	p.L205L	SETDB1_ENST00000368969.4_Silent_p.L205L|SETDB1_ENST00000368962.2_Silent_p.L205L|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368963.1_Silent_p.L205L	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	205					bone development (GO:0060348)|histone H3-K9 trimethylation (GO:0036124)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGCGAATTCTGGGCAAGAAGA	0.448																																																0			1											118.0	113.0	115.0					1																	150915106		2203	4300	6503	149181730	SO:0001819	synonymous_variant	9869			D31891	CCDS972.1, CCDS44217.1, CCDS58026.1	1q21	2013-01-23			ENSG00000143379	ENSG00000143379		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Tudor domain containing"""	10761	protein-coding gene	gene with protein product	"""tudor domain containing 21"""	604396				10343109	Standard	NM_001145415		Approved	KG1T, KIAA0067, ESET, KMT1E, TDRD21	uc001evu.2	Q15047	OTTHUMG00000035003	ENST00000271640.5:c.615G>C	1.37:g.150915106G>C			149181730	A6NEW2|Q5SZD8|Q5SZD9|Q5SZE0|Q5SZE7|Q96GM9	Silent	SNP	HMMSmart_TUDOR,HMMPfam_MBD,superfamily_DNA-binding_integrase-type,HMMSmart_MBD,superfamily_SSF82199,HMMSmart_PreSET,HMMPfam_Pre-SET,HMMPfam_SET,HMMSmart_SET,HMMSmart_PostSET	p.L205	ENST00000271640.5	37	c.615	CCDS44217.1	1																																																																																			-	NULL		0.448	SETDB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SETDB1	protein_coding	OTTHUMT00000084717.2	G			149181730	+1	no_errors	NM_012432	genbank	human	reviewed	54_36p	silent	SNP	1.000	C
PRUNE	58497	genome.wustl.edu	37	1	151001309	151001309	+	Nonsense_Mutation	SNP	C	C	A			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr1:151001309C>A	ENST00000271620.3	+	7	978	c.822C>A	c.(820-822)tgC>tgA	p.C274*	PRUNE_ENST00000368934.1_Intron|PRUNE_ENST00000467771.1_3'UTR|PRUNE_ENST00000271619.8_Intron|PRUNE_ENST00000368936.1_Nonsense_Mutation_p.C92*|PRUNE_ENST00000368935.1_Intron|PRUNE_ENST00000368937.1_Intron	NM_021222.1	NP_067045.1	Q86TP1	PRUNE_HUMAN	prune exopolyphosphatase	274						cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	inorganic diphosphatase activity (GO:0004427)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ATGCTTTCTGCCAGGCTCACA	0.483																																																0			1											181.0	152.0	162.0					1																	151001309		2203	4300	6503	149267933	SO:0001587	stop_gained	58497			U67085	CCDS977.1	1q21.2	2013-04-29	2013-04-29		ENSG00000143363	ENSG00000143363	3.6.1.11		13420	protein-coding gene	gene with protein product			"""prune homolog (Drosophila)"""			10602478, 11687967, 18700747	Standard	NM_021222		Approved	DRES-17, HTCD37	uc001ewh.1	Q86TP1	OTTHUMG00000035062	ENST00000271620.3:c.822C>A	1.37:g.151001309C>A	ENSP00000271620:p.Cys274*		149267933	B2RCH8|B4DFL7|Q5SZF9|Q659E5|Q6P4E0|Q8N654|Q96JU5|Q9C071|Q9C072|Q9UIV0	Nonsense_Mutation	SNP	HMMPfam_DHH,superfamily_DHH phosphoesterases,HMMPfam_DHHA2,PatternScan_GLYCOSYL_HYDROL_F5	p.C274*	ENST00000271620.3	37	c.822	CCDS977.1	1	.	.	.	.	.	.	.	.	.	.	C	38	7.060543	0.98036	.	.	ENSG00000143363	ENST00000450884;ENST00000271620;ENST00000302413;ENST00000368936	.	.	.	5.12	4.19	0.49359	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.9844	11.7433	0.51804	0.0:0.9123:0.0:0.0877	.	.	.	.	X	92;274;207;92	.	ENSP00000271620:C274X	C	+	3	2	PRUNE	149267933	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.097000	0.50251	2.661000	0.90470	0.603000	0.83216	TGC	-	superfamily_DHH phosphoesterases,HMMPfam_DHHA2		0.483	PRUNE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRUNE	protein_coding	OTTHUMT00000084885.1	C	NM_021222		149267933	+1	no_errors	NM_021222	genbank	human	provisional	54_36p	nonsense	SNP	0.996	A
GPR149	344758	genome.wustl.edu	37	3	154138981	154138981	+	Missense_Mutation	SNP	A	A	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr3:154138981A>T	ENST00000389740.2	-	3	1569	c.1470T>A	c.(1468-1470)gaT>gaA	p.D490E		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	490					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CAGAAAACGCATCCTTTTTGT	0.423																																																0			3											287.0	269.0	275.0					3																	154138981		1906	4118	6024	155621675	SO:0001583	missense	344758			AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.1470T>A	3.37:g.154138981A>T	ENSP00000374390:p.Asp490Glu		155621675		Missense_Mutation	SNP	NULL	p.D490E	ENST00000389740.2	37	c.1470	CCDS43162.1	3	.	.	.	.	.	.	.	.	.	.	A	1.852	-0.464692	0.04476	.	.	ENSG00000174948	ENST00000389740	.	.	.	4.88	-0.809	0.10864	.	1.008970	0.07930	N	0.977276	T	0.18087	0.0434	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.25082	-1.0142	9	0.72032	D	0.01	0.7639	5.5365	0.17013	0.391:0.1432:0.4658:0.0	.	490	Q86SP6	GP149_HUMAN	E	490	.	ENSP00000374390:D490E	D	-	3	2	GPR149	155621675	0.000000	0.05858	0.000000	0.03702	0.023000	0.10783	0.238000	0.18004	-0.401000	0.07644	0.372000	0.22366	GAT	-	NULL		0.423	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR149	protein_coding	OTTHUMT00000353430.1	A	XM_293580		155621675	-1	no_errors	NM_001038705	genbank	human	provisional	54_36p	missense	SNP	0.000	T
APCS	325	genome.wustl.edu	37	1	159558366	159558366	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr1:159558366C>G	ENST00000255040.2	+	2	637	c.540C>G	c.(538-540)gaC>gaG	p.D180E		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	180	Pentaxin.				acute-phase response (GO:0006953)|chaperone-mediated protein complex assembly (GO:0051131)|innate immune response (GO:0045087)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of exo-alpha-sialidase activity (GO:1903016)|negative regulation of glycoprotein metabolic process (GO:1903019)|negative regulation of monocyte differentiation (GO:0045656)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral process (GO:0048525)|negative regulation of wound healing (GO:0061045)|protein folding (GO:0006457)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|unfolded protein binding (GO:0051082)|virion binding (GO:0046790)			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					ACATGTGGGACTCTGTGCTGC	0.522																																																0			1											129.0	132.0	131.0					1																	159558366		2203	4300	6503	157824990	SO:0001583	missense	325				CCDS1186.1	1q21-q23	2012-10-02			ENSG00000132703	ENSG00000132703			584	protein-coding gene	gene with protein product	"""pentaxin-related"", ""9.5S alpha-1-glycoprotein"""	104770				2987268	Standard	NM_001639		Approved	SAP, PTX2, MGC88159	uc001ftv.3	P02743	OTTHUMG00000022741	ENST00000255040.2:c.540C>G	1.37:g.159558366C>G	ENSP00000255040:p.Asp180Glu		157824990		Missense_Mutation	SNP	HMMSmart_PTX,superfamily_ConA_like_lec_gl,HMMPfam_Pentaxin,PatternScan_PENTAXIN	p.D180E	ENST00000255040.2	37	c.540	CCDS1186.1	1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.628720	0.46944	.	.	ENSG00000132703	ENST00000255040	T	0.66815	-0.23	4.24	2.26	0.28386	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.049536	0.85682	D	0.000000	T	0.63010	0.2475	M	0.89353	3.025	0.39816	D	0.972774	P	0.44627	0.839	P	0.47827	0.558	T	0.67891	-0.5553	10	0.87932	D	0	-17.7821	4.8095	0.13337	0.0:0.5953:0.0:0.4047	.	180	P02743	SAMP_HUMAN	E	180	ENSP00000255040:D180E	ENSP00000255040:D180E	D	+	3	2	APCS	157824990	0.003000	0.15002	0.924000	0.36721	0.483000	0.33249	-0.096000	0.11059	1.029000	0.39812	0.650000	0.86243	GAC	-	HMMSmart_PTX,superfamily_ConA_like_lec_gl,HMMPfam_Pentaxin		0.522	APCS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APCS	protein_coding	OTTHUMT00000059024.2	C	NM_001639		157824990	+1	no_errors	NM_001639	genbank	human	reviewed	54_36p	missense	SNP	0.880	G
UBR3	130507	genome.wustl.edu	37	2	170857850	170857850	+	Missense_Mutation	SNP	G	G	A			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr2:170857850G>A	ENST00000272793.5	+	27	4005	c.3955G>A	c.(3955-3957)Gga>Aga	p.G1319R	UBR3_ENST00000418381.1_Missense_Mutation_p.G1319R|UBR3_ENST00000392631.1_Missense_Mutation_p.G140R			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1319					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TGGCTGGGAAGGAGGTGTTTA	0.289																																																0			2											132.0	127.0	129.0					2																	170857850		2203	4300	6503	170566096	SO:0001583	missense	130507			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.3955G>A	2.37:g.170857850G>A	ENSP00000272793:p.Gly1319Arg		170566096	B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	superfamily_RING/U-box,HMMPfam_zf-C3HC4	p.G172R	ENST00000272793.5	37	c.514		2	.	.	.	.	.	.	.	.	.	.	g	26.2	4.713773	0.89112	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381;ENST00000392631	T;T;T	0.48201	0.82;0.82;0.84	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.66076	0.2753	M	0.64567	1.98	0.52501	D	0.999958	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.997	T	0.60727	-0.7206	10	0.24483	T	0.36	.	18.7896	0.91968	0.0:0.0:1.0:0.0	.	1319;140;1319	Q6ZT12;Q6ZT12-2;E7EVK3	UBR3_HUMAN;.;.	R	1319;1319;1319;140	ENSP00000272793:G1319R;ENSP00000396068:G1319R;ENSP00000376408:G140R	ENSP00000272793:G1319R	G	+	1	0	UBR3	170566096	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	9.417000	0.97391	2.518000	0.84900	0.298000	0.19748	GGA	-	superfamily_RING/U-box		0.289	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	UBR3	protein_coding	OTTHUMT00000255290.2	G	NM_172070		170566096	+1	no_errors	NM_172070	genbank	human	validated	54_36p	missense	SNP	1.000	A
PEX5L	51555	genome.wustl.edu	37	3	179593160	179593160	+	Missense_Mutation	SNP	C	C	T			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr3:179593160C>T	ENST00000467460.1	-	6	941	c.611G>A	c.(610-612)gGa>gAa	p.G204E	PEX5L_ENST00000263962.8_Missense_Mutation_p.G202E|PEX5L_ENST00000467440.2_5'UTR|PEX5L-AS1_ENST00000466064.1_RNA|PEX5L_ENST00000468741.1_Missense_Mutation_p.G12E|PEX5L_ENST00000392649.3_Missense_Mutation_p.G96E|PEX5L_ENST00000476138.1_Missense_Mutation_p.G161E|PEX5L_ENST00000485199.1_Missense_Mutation_p.G169E|PEX5L_ENST00000472994.1_Missense_Mutation_p.G145E|PEX5L_ENST00000464614.1_Missense_Mutation_p.G96E|PEX5L_ENST00000465751.1_Missense_Mutation_p.G180E	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	204					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CTCTTTTGATCCAGTTCTAGA	0.378																																																0			3											199.0	176.0	184.0					3																	179593160		2203	4300	6503	181075854	SO:0001583	missense	51555			AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.611G>A	3.37:g.179593160C>T	ENSP00000419975:p.Gly204Glu		181075854	B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	superfamily_TPR-like,HMMPfam_TPR_1,HMMSmart_SM00028	p.G204E	ENST00000467460.1	37	c.611	CCDS3236.1	3	.	.	.	.	.	.	.	.	.	.	C	11.24	1.579567	0.28180	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751;ENST00000496721;ENST00000491640;ENST00000469198	D;D;D;D;D;D;D;D;D	0.87103	-2.18;-2.19;-2.16;-2.19;-2.21;-2.16;-2.16;-2.19;-2.16	5.88	5.88	0.94601	.	0.276343	0.35772	N	0.002985	T	0.75110	0.3805	N	0.08118	0	0.36850	D	0.887831	B;B;B;B;B;B	0.27416	0.049;0.02;0.063;0.178;0.137;0.085	B;B;B;B;B;B	0.28011	0.026;0.018;0.016;0.085;0.058;0.026	T	0.76686	-0.2868	10	0.66056	D	0.02	-22.1714	10.5477	0.45070	0.1261:0.6948:0.179:0.0	.	145;180;96;202;169;204	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	E	204;202;169;202;96;12;161;92;145;96;180;12;12;193	ENSP00000419975:G204E;ENSP00000263962:G202E;ENSP00000418440:G169E;ENSP00000376420:G96E;ENSP00000418665:G12E;ENSP00000420555:G161E;ENSP00000418054:G145E;ENSP00000417270:G96E;ENSP00000419348:G180E	ENSP00000263962:G202E	G	-	2	0	PEX5L	181075854	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.373000	0.44266	2.788000	0.95919	0.650000	0.86243	GGA	-	NULL		0.378	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PEX5L	protein_coding	OTTHUMT00000348577.1	C	NM_016559		181075854	-1	no_errors	NM_016559	genbank	human	provisional	54_36p	missense	SNP	1.000	T
NCKAP1	10787	genome.wustl.edu	37	2	183860498	183860498	+	Missense_Mutation	SNP	C	C	G			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr2:183860498C>G	ENST00000361354.4	-	7	1044	c.672G>C	c.(670-672)tgG>tgC	p.W224C	NCKAP1_ENST00000360982.2_Missense_Mutation_p.W230C	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1	224					apical protein localization (GO:0045176)|apoptotic process (GO:0006915)|basal protein localization (GO:0045175)|central nervous system development (GO:0007417)|embryonic body morphogenesis (GO:0010172)|embryonic foregut morphogenesis (GO:0048617)|embryonic heart tube development (GO:0035050)|endoderm development (GO:0007492)|establishment or maintenance of actin cytoskeleton polarity (GO:0030950)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|lamellipodium assembly (GO:0030032)|mesodermal cell migration (GO:0008078)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|paraxial mesoderm morphogenesis (GO:0048340)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|positive regulation of lamellipodium assembly (GO:0010592)|protein stabilization (GO:0050821)|Rac protein signal transduction (GO:0016601)|regulation of protein localization (GO:0032880)|somitogenesis (GO:0001756)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GGGCATTTCTCCACTGGTCAG	0.373																																																0			2											117.0	119.0	118.0					2																	183860498		2203	4300	6503	183568743	SO:0001583	missense	10787			AB014509	CCDS2287.1, CCDS2288.1	2q32	2009-08-14			ENSG00000061676	ENSG00000061676			7666	protein-coding gene	gene with protein product		604891				10673335, 12181570, 9344857	Standard	NM_013436		Approved	Nap1, HEM2, NAP125	uc002upb.4	Q9Y2A7	OTTHUMG00000132623	ENST00000361354.4:c.672G>C	2.37:g.183860498C>G	ENSP00000355348:p.Trp224Cys		183568743	O60329|Q53QN5|Q53S94|Q53Y35	Missense_Mutation	SNP	HMMPfam_Nckap1	p.W230C	ENST00000361354.4	37	c.690	CCDS2287.1	2	.	.	.	.	.	.	.	.	.	.	C	26.4	4.729511	0.89390	.	.	ENSG00000061676	ENST00000361354;ENST00000360982	T;T	0.37058	1.22;1.22	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.67961	0.2949	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75484	0.986;0.976	T	0.72265	-0.4344	10	0.87932	D	0	-4.9767	20.1438	0.98071	0.0:1.0:0.0:0.0	.	224;230	Q9Y2A7;Q9Y2A7-2	NCKP1_HUMAN;.	C	224;230	ENSP00000355348:W224C;ENSP00000354251:W230C	ENSP00000354251:W230C	W	-	3	0	NCKAP1	183568743	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.768000	0.95171	0.650000	0.86243	TGG	-	HMMPfam_Nckap1		0.373	NCKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP1	protein_coding	OTTHUMT00000255867.2	C	NM_205842		183568743	-1	no_errors	NM_205842	genbank	human	validated	54_36p	missense	SNP	1.000	G
CFH	3075	genome.wustl.edu	37	1	196716245	196716245	+	Silent	SNP	G	G	A			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr1:196716245G>A	ENST00000367429.4	+	22	3738	c.3498G>A	c.(3496-3498)ccG>ccA	p.P1166P		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1166					complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)			NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTTCAGATCCGTGTGTAATAT	0.323																																																0			1											78.0	78.0	78.0					1																	196716245		2203	4296	6499	194982868	SO:0001819	synonymous_variant	3075			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.3498G>A	1.37:g.196716245G>A			194982868	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Silent	SNP	superfamily_Complement control module/SCR domain,HMMPfam_Sushi,HMMSmart_SM00032	p.P1166	ENST00000367429.4	37	c.3498	CCDS1385.1	1																																																																																			-	superfamily_Complement control module/SCR domain		0.323	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFH	protein_coding	OTTHUMT00000086412.2	G	NM_000186		194982868	+1	no_errors	NM_000186	genbank	human	reviewed	54_36p	silent	SNP	0.018	A
PLCL1	5334	genome.wustl.edu	37	2	198950443	198950443	+	Silent	SNP	A	A	G			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr2:198950443A>G	ENST00000428675.1	+	2	2600	c.2202A>G	c.(2200-2202)ccA>ccG	p.P734P	PLCL1_ENST00000437704.2_Silent_p.P636P	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	734	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				gamma-aminobutyric acid signaling pathway (GO:0007214)|intracellular signal transduction (GO:0035556)|lipid metabolic process (GO:0006629)|positive regulation of receptor binding (GO:1900122)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|inositol 1,4,5 trisphosphate binding (GO:0070679)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AGAATTTCCCAAAGCCCAAGG	0.438																																																0			2											66.0	67.0	67.0					2																	198950443		2203	4300	6503	198658688	SO:0001819	synonymous_variant	5334			D42108	CCDS2326.1, CCDS2326.2	2q33	2014-06-13	2002-02-18	2002-02-22	ENSG00000115896	ENSG00000115896			9063	protein-coding gene	gene with protein product	"""phospholipase C related, but catalytically inactive protein"", ""protein phosphatase 1, regulatory subunit 127"""	600597	"""phospholipase C, epsilon"""	PLCE		7633416	Standard	NM_006226		Approved	PLC-L, PLCL, PRIP, PPP1R127	uc010fsp.3	Q15111	OTTHUMG00000132750	ENST00000428675.1:c.2202A>G	2.37:g.198950443A>G			198658688	Q3MJ90|Q53SD3|Q7Z3S3	Silent	SNP	superfamily_SSF50729,HMMPfam_PH,HMMSmart_PH,superfamily_SSF47473,HMMPfam_efhand_like,HMMSmart_PLCXc,HMMPfam_PI-PLC-X,superfamily_PLC-like_Pdiesterase_TIM-brl,HMMPfam_PI-PLC-Y,HMMSmart_PLCYc,superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2	p.P636	ENST00000428675.1	37	c.1908	CCDS2326.2	2																																																																																			-	superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2		0.438	PLCL1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCL1	protein_coding	OTTHUMT00000340210.1	A	NM_006226		198658688	+1	no_errors	NM_006226	genbank	human	provisional	54_36p	silent	SNP	1.000	G
PIKFYVE	200576	genome.wustl.edu	37	2	209188915	209188915	+	Missense_Mutation	SNP	C	C	A			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr2:209188915C>A	ENST00000264380.4	+	18	2398	c.2240C>A	c.(2239-2241)cCc>cAc	p.P747H		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	747					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GATGTTCGACCCACCTTGGTT	0.383																																																0			2											179.0	169.0	172.0					2																	209188915		2203	4300	6503	208897160	SO:0001583	missense	200576			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.2240C>A	2.37:g.209188915C>A	ENSP00000264380:p.Pro747His		208897160	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	"superfamily_FYVE/PHD zinc finger,HMMSmart_SM00064,HMMPfam_FYVE,superfamily_""Winged helix"" DNA-binding domain,HMMPfam_DEP,HMMSmart_SM00049,superfamily_GroEL-intermediate domain like,HMMPfam_Cpn60_TCP1,superfamily_GroEL apical domain-like,superfamily_SAICAR synthase-like,HMMSmart_SM00330,HMMPfam_PIP5K"	p.P747H	ENST00000264380.4	37	c.2240	CCDS2382.1	2	.	.	.	.	.	.	.	.	.	.	C	29.5	5.010947	0.93346	.	.	ENSG00000115020	ENST00000264380;ENST00000392200;ENST00000452564	T;T	0.78364	-1.17;-1.17	5.89	5.89	0.94794	.	0.000000	0.64402	D	0.000001	D	0.90920	0.7146	M	0.91038	3.17	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.989;0.999	D	0.92211	0.5776	10	0.87932	D	0	-13.6809	18.4332	0.90634	0.0:1.0:0.0:0.0	.	747;691	Q9Y2I7;E9PDH4	FYV1_HUMAN;.	H	747;323;691	ENSP00000264380:P747H;ENSP00000405736:P691H	ENSP00000264380:P747H	P	+	2	0	PIKFYVE	208897160	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.818000	0.86416	2.788000	0.95919	0.557000	0.71058	CCC	-	superfamily_GroEL-intermediate domain like,HMMPfam_Cpn60_TCP1,superfamily_GroEL apical domain-like		0.383	PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIP5K3	protein_coding	OTTHUMT00000256477.2	C	NM_015040		208897160	+1	no_errors	NM_015040	genbank	human	validated	54_36p	missense	SNP	0.998	A
NADK	65220	genome.wustl.edu	37	1	1684347	1684348	+	In_Frame_Ins	INS	-	-	CCT	rs139135464|rs71578334|rs150880809		TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	-	-					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr1:1684347_1684348insCCT	ENST00000341426.5	-	12	1557_1558	c.1336_1337insAGG	c.(1336-1338)ggc>gAGGgc	p.445_446insE	NADK_ENST00000341991.3_In_Frame_Ins_p.445_446insE|NADK_ENST00000342348.5_In_Frame_Ins_p.413_414insE|NADK_ENST00000378625.1_In_Frame_Ins_p.590_591insE|NADK_ENST00000344463.4_In_Frame_Ins_p.590_591insE	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase	445	Poly-Glu.			E -> EE (in Ref. 2; BAB14412). {ECO:0000305}.|G -> EG (in Ref. 3; BAH12420). {ECO:0000305}.	ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		CTTGACCTAGCcctcctcctcc	0.629																																																0			1																																								1674208	SO:0001652	inframe_insertion	65220			BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.1334_1336dupAGG	1.37:g.1684354_1684356dupCCT	ENSP00000341679:p.Glu445_Glu445dup		1674207	A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	In_Frame_Ins	INS	superfamily_NAD kinase (Pfam 01513),HMMPfam_NAD_kinase	p.446in_frame_insE	ENST00000341426.5	37	c.1337_1336	CCDS30565.1	1																																																																																			-	NULL		0.629	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	NADK	protein_coding	OTTHUMT00000002769.1	-	NM_023018		1674208	-1	no_errors	NM_023018	genbank	human	validated	54_36p	in_frame_ins	INS	0.003:0.004	CCT
CPNE9	151835	genome.wustl.edu	37	3	9767733	9767761	+	Splice_Site	DEL	AGCGTGAGTCTGAGGAGGAGGGCTTGGCA	AGCGTGAGTCTGAGGAGGAGGGCTTGGCA	-	rs574537034|rs555885422|rs376465868		TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	AGCGTGAGTCTGAGGAGGAGGGCTTGGCA	AGCGTGAGTCTGAGGAGGAGGGCTTGGCA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr3:9767733_9767761delAGCGTGAGTCTGAGGAGGAGGGCTTGGCA	ENST00000383832.3	+	18	1532_1534	c.1342_1344delAGCGTGAGTCTGAGGAGGAGGGCTTGGCA	c.(1342-1344)agcdel	p.S448fs	CPNE9_ENST00000383831.3_Splice_Site_p.S448fs	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	448	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					GGCCATCGTCAGCGTGAGTCTGAGGAGGAGGGCTTGGCAGGGAGGAGTA	0.515																																																0			3																																								9742761	SO:0001630	splice_region_variant	151835				CCDS2574.2	3p25.3	2008-10-30			ENSG00000144550	ENSG00000144550			24336	protein-coding gene	gene with protein product						9430674	Standard	XM_006712990		Approved	KIAA4217	uc003bsd.3	Q8IYJ1	OTTHUMG00000128418	ENST00000383832.3:c.1344+1AGCGTGAGTCTGAGGAGGAGGGCTTGGCA>-	3.37:g.9767733_9767761delAGCGTGAGTCTGAGGAGGAGGGCTTGGCA			9742733	A1L430|A6NDX6|A8MSP8	In_Frame_Del	DEL	superfamily_C2_CaLB,HMMSmart_C2,HMMPfam_C2,superfamily_SSF53300,HMMSmart_VWA,HMMPfam_Copine	p.S448in_frame_del	ENST00000383832.3	37	c.1342_1344	CCDS2574.2	3																																																																																			(deletion:cds_exon[9742633,9742735], intron[9742736,9743348])	superfamily_SSF53300,HMMSmart_VWA,HMMPfam_Copine		0.515	CPNE9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE9	protein_coding	OTTHUMT00000250205.4	AGCGTGAGTCTGAGGAGGAGGGCTTGGCA	NM_001033755	Frame_Shift_Del	9742761	+1	no_errors	NM_153635	genbank	human	validated	54_36p	in_frame_del	DEL	1.000:0.995:0.982	-
TEKT5	146279	genome.wustl.edu	37	16	10788177	10788183	+	Frame_Shift_Del	DEL	CAGTTCA	CAGTTCA	-	rs201673586|rs148458964		TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	CAGTTCA	CAGTTCA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr16:10788177_10788183delCAGTTCA	ENST00000283025.2	-	1	619_625	c.548_554delTGAACTG	c.(547-555)gtgaactgcfs	p.VNC183fs	RP11-109M19.1_ENST00000576710.1_RNA	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	183						cilium (GO:0005929)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CTGCAATGGGCAGTTCACCTCATTGGC	0.57																																																0			16																																								10695684	SO:0001589	frameshift_variant	146279				CCDS10542.1	16p13.13	2014-01-21			ENSG00000153060	ENSG00000153060			26554	protein-coding gene	gene with protein product							Standard	NM_144674		Approved	FLJ32871, CT149	uc002czz.1	Q96M29	OTTHUMG00000129750	ENST00000283025.2:c.548_554delTGAACTG	16.37:g.10788177_10788183delCAGTTCA	ENSP00000283025:p.Val183fs		10695678	A1L3Z3	Frame_Shift_Del	DEL	HMMPfam_Tektin	p.V183fs	ENST00000283025.2	37	c.554_548	CCDS10542.1	16																																																																																			(deletion:cds_exon[10695668,10696231])	HMMPfam_Tektin		0.570	TEKT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEKT5	protein_coding	OTTHUMT00000251963.1	CAGTTCA	NM_144674		10695684	-1	no_errors	NM_144674	genbank	human	provisional	54_36p	frame_shift_del	DEL	0.996:0.996:0.994:0.996:0.985:0.901:0.885	-
ZNF225	7768	genome.wustl.edu	37	19	44635843	44635843	+	Frame_Shift_Del	DEL	T	T	-			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr19:44635843delT	ENST00000262894.6	+	5	1356	c.1076delT	c.(1075-1077)cttfs	p.L359fs	ZNF225_ENST00000590612.1_Frame_Shift_Del_p.L359fs|ZNF225_ENST00000592780.1_3'UTR	NM_013362.2	NP_037494.2	Q9UK10	ZN225_HUMAN	zinc finger protein 225	359					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	16		Prostate(69;0.0352)|all_neural(266;0.202)				AGGCAAGATCTTTATAAGCAT	0.428																																																0			19											95.0	103.0	100.0					19																	44635843		2190	4291	6481	49327683	SO:0001589	frameshift_variant	7768			AF187991	CCDS46100.1	19q13.31	2013-01-08				ENSG00000256294		"""Zinc fingers, C2H2-type"", ""-"""	13018	protein-coding gene	gene with protein product							Standard	NM_013362		Approved		uc002oyj.1	Q9UK10		ENST00000262894.6:c.1076delT	19.37:g.44635843delT	ENSP00000262894:p.Leu359fs		49327683	A8K8S2|Q53F12|Q9NS46|Q9UID8	Frame_Shift_Del	DEL	superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.Y360fs	ENST00000262894.6	37	c.1076	CCDS46100.1	19																																																																																			(deletion:cds_exon[49326843,49328728])	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1		0.428	ZNF225-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF225	protein_coding	OTTHUMT00000460581.1	T			49327683	+1	no_errors	NM_013362	genbank	human	validated	54_36p	frame_shift_del	DEL	0.004	-
MST1R	4486	genome.wustl.edu	37	3	49935018	49935019	+	Frame_Shift_Del	DEL	TA	TA	-			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	TA	TA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr3:49935018_49935019delTA	ENST00000296474.3	-	6	2007_2008	c.1980_1981delTA	c.(1978-1983)actaacfs	p.N661fs	MST1R_ENST00000344206.4_Frame_Shift_Del_p.N661fs|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	661	IPT/TIG 1.				cellular component movement (GO:0006928)|defense response (GO:0006952)|innate immune response (GO:0045087)|macrophage colony-stimulating factor signaling pathway (GO:0038145)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|response to virus (GO:0009615)|signal transduction (GO:0007165)|single fertilization (GO:0007338)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|macrophage colony-stimulating factor receptor activity (GO:0005011)			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GGTGGCATGTTAGTCACGGTGA	0.599																																																0			3																																								49910023	SO:0001589	frameshift_variant	4486			X70040	CCDS2807.1, CCDS58833.1	3p21	2008-08-18			ENSG00000164078	ENSG00000164078		"""CD molecules"""	7381	protein-coding gene	gene with protein product		600168	"""PTK8 protein tyrosine kinase 8"""	RON, PTK8		8386824	Standard	NM_002447		Approved	CDw136, CD136	uc003cxy.4	Q04912	OTTHUMG00000156709	ENST00000296474.3:c.1980_1981delTA	3.37:g.49935018_49935019delTA	ENSP00000296474:p.Asn661fs		49910022	B5A944|B5A945|B5A946|B5A947	Frame_Shift_Del	DEL	superfamily_Sema domain,HMMSmart_SM00630,HMMPfam_Sema,superfamily_Plexin repeat,HMMPfam_PSI,HMMSmart_SM00423,superfamily_E set domains,HMMSmart_SM00429,HMMPfam_TIG,superfamily_Protein kinase-like (PK-like),HMMPfam_Pkinase_Tyr,HMMSmart_SM00219,HMMSmart_SM00220,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_TYR	p.N661fs	ENST00000296474.3	37	c.1981_1980	CCDS2807.1	3																																																																																			(deletion:cds_exon[49909957,49910122])	HMMSmart_SM00429,HMMPfam_TIG		0.599	MST1R-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MST1R	protein_coding	OTTHUMT00000345403.1	TA			49910023	-1	no_errors	NM_002447	genbank	human	validated	54_36p	frame_shift_del	DEL	0.002:0.001	-
ACADS	35	genome.wustl.edu	37	12	121177128	121177158	+	Frame_Shift_Del	DEL	CGTGACAGAGATGCCGGCAGAGCGGCACTAC	CGTGACAGAGATGCCGGCAGAGCGGCACTAC	-	rs183161718|rs28940875|rs371934737|rs374867417|rs368064268		TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	CGTGACAGAGATGCCGGCAGAGCGGCACTAC	CGTGACAGAGATGCCGGCAGAGCGGCACTAC					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr12:121177128_121177158delCGTGACAGAGATGCCGGCAGAGCGGCACTAC	ENST00000242592.4	+	10	1267_1297	c.1116_1146delCGTGACAGAGATGCCGGCAGAGCGGCACTAC	c.(1114-1146)tacgtgacagagatgccggcagagcggcactacfs	p.YVTEMPAERHY372fs	ACADS_ENST00000411593.2_Frame_Shift_Del_p.YVTEMPAERHY368fs|RP11-173P15.7_ENST00000542620.1_RNA	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	372					butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	GCATGGGCTACGTGACAGAGATGCCGGCAGAGCGGCACTACCGCGACGCCC	0.654																																																0			12	GRCh37	CM010009	ACADS	M	rs28940875																																			119661541	SO:0001589	frameshift_variant	35			M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"""acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"""			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.1116_1146delCGTGACAGAGATGCCGGCAGAGCGGCACTAC	12.37:g.121177128_121177158delCGTGACAGAGATGCCGGCAGAGCGGCACTAC	ENSP00000242592:p.Tyr372fs		119661511	P78331	Frame_Shift_Del	DEL	superfamily_AcylCoA_dehyd_NM,HMMPfam_Acyl-CoA_dh_N,HMMPfam_Acyl-CoA_dh_M,PatternScan_ACYL_COA_DH_1,HMMPfam_Acyl-CoA_dh_1,superfamily_AcylCoADH_C_like,PatternScan_ACYL_COA_DH_2	p.V373fs	ENST00000242592.4	37	c.1116_1146	CCDS9207.1	12																																																																																			(deletion:cds_exon[119661482,119661634])	HMMPfam_Acyl-CoA_dh_1,superfamily_AcylCoADH_C_like,PatternScan_ACYL_COA_DH_2		0.654	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACADS	protein_coding	OTTHUMT00000402861.1	CGTGACAGAGATGCCGGCAGAGCGGCACTAC	NM_000017		119661541	+1	no_errors	NM_000017	genbank	human	reviewed	54_36p	frame_shift_del	DEL	0.990:1.000:1.000:1.000:0.997:0.995:0.973:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.997:0.900:1.000:1.000:0.992:1.000:1.000:0.998:1.000:1.000:0.994:1.000:1.000:1.000:1.000:1.000:1.000	-
RC3H2	54542	genome.wustl.edu	37	9	125642575	125642584	+	Intron	DEL	CATCATTAGA	CATCATTAGA	-			TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	CATCATTAGA	CATCATTAGA					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr9:125642575_125642584delCATCATTAGA	ENST00000373670.1	-	6	1561				SNORD90_ENST00000391145.1_RNA|RC3H2_ENST00000423239.2_Intron|RC3H2_ENST00000357244.2_Intron|RC3H2_ENST00000335387.5_Intron|RC3H2_ENST00000373665.2_Intron			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2						B cell homeostasis (GO:0001782)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymph node development (GO:0048535)|multicellular organism growth (GO:0035264)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|post-embryonic development (GO:0009791)|posttranscriptional regulation of gene expression (GO:0010608)|protein polyubiquitination (GO:0000209)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CTATGAAATTCATCATTAGACACTTAGAAA	0.319																																																0			9																																								124682405	SO:0001627	intron_variant	0			AK000308	CCDS43874.1, CCDS48014.1	9q34	2013-01-18	2010-09-15	2007-02-06	ENSG00000056586	ENSG00000056586		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	21461	protein-coding gene	gene with protein product		615231	"""membrane associated DNA binding protein"", ""ring finger and CCCH-type zinc finger domains 2"""	MNAB		10938276	Standard	NM_001100588		Approved	FLJ20301, FLJ20713, RNF164	uc010mwc.1	Q9HBD1	OTTHUMG00000020632	ENST00000373670.1:c.961-171TCTAATGATG>-	9.37:g.125642575_125642584delCATCATTAGA			124682396	Q4VXB1|Q5JPD7|Q86ST6|Q8N3D6|Q96F27|Q9H5J2|Q9HBD2|Q9NWN9|Q9NXE1	RNA	DEL	-	NULL	ENST00000373670.1	37	NULL	CCDS43874.1	9																																																																																			(deletion:rna[124682313,124682419])	-		0.319	RC3H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORD90	protein_coding	OTTHUMT00000053966.1	CATCATTAGA	NM_018835		124682405	-1	no_errors	NR_003071	genbank	human	provisional	54_36p	rna	DEL	1.000:1.000:1.000:1.000:0.998:0.973:0.939:0.997:1.000:1.000	-
IRF5	3663	genome.wustl.edu	37	7	128587352	128587381	+	In_Frame_Del	DEL	ACTCTGCAGCCGCCCACTCTGCGGCCGCCT	ACTCTGCAGCCGCCCACTCTGCGGCCGCCT	-	rs199508964|rs113806178|rs60344245|rs566635242|rs202130620|rs375983447|rs534043449|rs79724471	byFrequency	TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	ACTCTGCAGCCGCCCACTCTGCGGCCGCCT	ACTCTGCAGCCGCCCACTCTGCGGCCGCCT					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr7:128587352_128587381delACTCTGCAGCCGCCCACTCTGCGGCCGCCT	ENST00000402030.2	+	6	574_603	c.502_531delACTCTGCAGCCGCCCACTCTGCGGCCGCCT	c.(502-531)actctgcagccgcccactctgcggccgcctdel	p.TLQPPTLRPP168del	IRF5_ENST00000473745.1_In_Frame_Del_p.TLQPPTLRPP168del|IRF5_ENST00000249375.4_In_Frame_Del_p.TLQPPTLRPP168del|IRF5_ENST00000357234.5_In_Frame_Del_p.TLQPPTLRPP184del|IRF5_ENST00000477535.1_Intron	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	168					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						GTGGCCGCCCACTCTGCAGCCGCCCACTCTGCGGCCGCCTACTCTGCAGC	0.652														2428	0.484824	0.534	0.366	5008	,	,		17245	0.4425		0.5338	False		,,,				2504	0.4959															1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)	7							,,,,	1942,1932		603,736,598					,,,,	0.1	0.9		dbSNP_129	14	3856,4082		1083,1690,1196	no	coding,intron,coding,coding,coding	IRF5	NM_032643.3,NM_001242452.1,NM_001098630.1,NM_001098629.1,NM_001098627.2	,,,,	1686,2426,1794	A1A1,A1R,RR		48.5765,49.8709,49.0857	,,,,	,,,,		5798,6014				128374617	SO:0001651	inframe_deletion	3663				CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.502_531delACTCTGCAGCCGCCCACTCTGCGGCCGCCT	7.37:g.128587352_128587381delACTCTGCAGCCGCCCACTCTGCGGCCGCCT	ENSP00000385352:p.Thr168_Pro177del		128374588	A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	Splice_Site	DEL	-	e6-1	ENST00000402030.2	37	c.541+9_541+1	CCDS5808.1	7																																																																																			(deletion:intron[128374580,128374609], cds_exon[128374610,128374825])	-		0.652	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF5	protein_coding	OTTHUMT00000350934.1	ACTCTGCAGCCGCCCACTCTGCGGCCGCCT	NM_001098627		128374617	+1	no_errors	NM_002200	genbank	human	reviewed	54_36p	splice_site_del	DEL	0.714:0.698:0.682:0.666:0.650:0.635:0.620:0.605:0.590:0.575:0.561:0.546:0.532:0.517:0.503:0.489:0.475:0.461:0.447:0.433:0.419:0.405:0.391:0.377:0.363:0.349:0.335:0.321:0.306:0.292	-
HIVEP2	3097	genome.wustl.edu	37	6	143074718	143074723	+	In_Frame_Del	DEL	AGCGTG	AGCGTG	-	rs374372846		TCGA-23-1029-01B-01W-0639-09	TCGA-23-1029-10A-01W-0639-09	AGCGTG	AGCGTG					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	f8a33d13-f6f8-4328-a895-4bfdb94015ab	3a5c9d27-bef8-48c4-9009-758f47424e85	g.chr6:143074718_143074723delAGCGTG	ENST00000367604.1	-	9	7501_7506	c.6862_6867delCACGCT	c.(6862-6867)cacgctdel	p.HA2288del	HIVEP2_ENST00000012134.2_In_Frame_Del_p.HA2288del|RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000367603.2_In_Frame_Del_p.HA2288del			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2288					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		ATGACTGCAAAGCGTGAGGACCTCGC	0.558																																					Esophageal Squamous(107;843 1510 13293 16805 42198)											0			6																																								143116416	SO:0001651	inframe_deletion	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.6862_6867delCACGCT	6.37:g.143074718_143074723delAGCGTG	ENSP00000356576:p.His2288_Ala2289del		143116411	Q02646|Q5THT5|Q9NS05	In_Frame_Del	DEL	HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667	p.HA2288in_frame_del	ENST00000367604.1	37	c.6867_6862	CCDS43510.1	6																																																																																			(deletion:cds_exon[143115937,143116761])	NULL		0.558	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	protein_coding	OTTHUMT00000042495.1	AGCGTG			143116416	-1	no_errors	NM_006734	genbank	human	provisional	54_36p	in_frame_del	DEL	0.000:0.000:0.000:0.000:0.591:0.697	-
