#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_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	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_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	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_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	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_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ACTA2	59	genome.wustl.edu	37	10	90701048	90701048	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0JM-01A-21W-A071-09	TCGA-AO-A0JM-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f070142b-f44e-4264-8919-dde7d02ad835	e8905dd3-81d6-424c-8329-33aba5498151	g.chr10:90701048C>T	ENST00000458208.1	-	6	1028	c.554G>A	c.(553-555)cGa>cAa	p.R185Q	ACTA2-AS1_ENST00000437930.4_RNA|STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000480297.1_5'UTR|ACTA2-AS1_ENST00000596007.1_RNA|ACTA2_ENST00000224784.6_Missense_Mutation_p.R185Q	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	185			R -> Q (in AAT6). {ECO:0000269|PubMed:19409525}.		glomerular mesangial cell development (GO:0072144)|muscle contraction (GO:0006936)|regulation of blood pressure (GO:0008217)|response to virus (GO:0009615)|vascular smooth muscle contraction (GO:0014829)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|smooth muscle contractile fiber (GO:0030485)	ATP binding (GO:0005524)|protein kinase binding (GO:0019901)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		AGTGAGATCTCGGCCAGCCAG	0.562																																						dbGAP											0													142.0	112.0	122.0					10																	90701048		2203	4300	6503	-	-	-	SO:0001583	missense	0			X13839	CCDS7392.1	10q23.31	2014-09-17			ENSG00000107796	ENSG00000107796			130	protein-coding gene	gene with protein product		102620				2398629	Standard	NM_001141945		Approved	ACTSA	uc001kfp.3	P62736	OTTHUMG00000018700	ENST00000458208.1:c.554G>A	10.37:g.90701048C>T	ENSP00000402373:p.Arg185Gln		B2R8A4|P03996|P04108|Q6FI19	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.R185Q	ENST00000458208.1	37	c.554	CCDS7392.1	10	.	.	.	.	.	.	.	.	.	.	C	26.6	4.750428	0.89753	.	.	ENSG00000107796	ENST00000224784;ENST00000458208;ENST00000544901	D;D	0.94497	-3.44;-3.44	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	D	0.98175	0.9397	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98903	1.0777	10	0.87932	D	0	.	18.7419	0.91777	0.0:1.0:0.0:0.0	.	185	P62736	ACTA_HUMAN	Q	185;185;140	ENSP00000224784:R185Q;ENSP00000402373:R185Q	ENSP00000224784:R185Q	R	-	2	0	ACTA2	90691028	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.769000	0.85360	2.762000	0.94881	0.655000	0.94253	CGA	ACTA2	-	pfam_Actin-like,smart_Actin-like	ENSG00000107796		0.562	ACTA2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTA2	HGNC	protein_coding	OTTHUMT00000049264.1	104	0.00	0	C	NM_001613		90701048	90701048	-1	no_errors	ENST00000224784	ensembl	human	known	69_37n	missense	66	19.51	16	SNP	1.000	T
ADAMTS13	11093	genome.wustl.edu	37	9	136319570	136319570	+	Silent	SNP	C	C	T			TCGA-AO-A0JM-01A-21W-A071-09	TCGA-AO-A0JM-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f070142b-f44e-4264-8919-dde7d02ad835	e8905dd3-81d6-424c-8329-33aba5498151	g.chr9:136319570C>T	ENST00000371929.3	+	24	3522	c.3078C>T	c.(3076-3078)gcC>gcT	p.A1026A	ADAMTS13_ENST00000356589.2_Silent_p.A995A|ADAMTS13_ENST00000371910.1_5'Flank|ADAMTS13_ENST00000355699.2_Silent_p.A1026A|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000371916.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1026	TSP type-1 7. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CATGTTCGGCCAGCTGTGGCC	0.652																																						dbGAP											0													104.0	86.0	92.0					9																	136319570		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.3078C>T	9.37:g.136319570C>T			Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Silent	SNP	pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.A1026	ENST00000371929.3	37	c.3078	CCDS6970.1	9																																																																																			ADAMTS13	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000160323		0.652	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAMTS13	HGNC	protein_coding	OTTHUMT00000054920.1	22	0.00	0	C	NM_139025		136319570	136319570	+1	no_errors	ENST00000371929	ensembl	human	known	69_37n	silent	15	21.05	4	SNP	1.000	T
ADAMTS5	11096	genome.wustl.edu	37	21	28337771	28337771	+	Missense_Mutation	SNP	C	C	G			TCGA-AO-A0JM-01A-21W-A071-09	TCGA-AO-A0JM-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f070142b-f44e-4264-8919-dde7d02ad835	e8905dd3-81d6-424c-8329-33aba5498151	g.chr21:28337771C>G	ENST00000284987.5	-	1	1061	c.940G>C	c.(940-942)Gcc>Ccc	p.A314P		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	314	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				defense response to bacterium (GO:0042742)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|proteolysis (GO:0006508)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.A314S(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						TTCACCACGGCCAGGCGGATG	0.587																																					Esophageal Squamous(53;683 1080 10100 14424 45938)	dbGAP											1	Substitution - Missense(1)	kidney(1)											121.0	104.0	110.0					21																	28337771		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF142099	CCDS13579.1	21q21.3	2008-07-31	2008-07-31		ENSG00000154736	ENSG00000154736		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	221	protein-coding gene	gene with protein product	"""aggrecanase-2"""	605007	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 5 (aggrecanase-2)"""			10438522	Standard	NM_007038		Approved	ADMP-2, ADAMTS11	uc002ymg.3	Q9UNA0	OTTHUMG00000078686	ENST00000284987.5:c.940G>C	21.37:g.28337771C>G	ENSP00000284987:p.Ala314Pro		Q52LV4|Q9UKP2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS	p.A314P	ENST00000284987.5	37	c.940	CCDS13579.1	21	.	.	.	.	.	.	.	.	.	.	C	17.14	3.313832	0.60414	.	.	ENSG00000154736	ENST00000284987	T	0.65364	-0.15	4.88	4.88	0.63580	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.376313	0.27981	N	0.017080	T	0.67702	0.2921	M	0.61387	1.9	0.49130	D	0.999755	D	0.53151	0.958	P	0.47573	0.55	T	0.73849	-0.3853	10	0.87932	D	0	.	18.2347	0.89946	0.0:1.0:0.0:0.0	.	314	Q9UNA0	ATS5_HUMAN	P	314	ENSP00000284987:A314P	ENSP00000284987:A314P	A	-	1	0	ADAMTS5	27259642	1.000000	0.71417	0.993000	0.49108	0.991000	0.79684	3.006000	0.49529	2.522000	0.85027	0.655000	0.94253	GCC	ADAMTS5	-	pfam_Peptidase_M12B,pfscan_Peptidase_M12B	ENSG00000154736		0.587	ADAMTS5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS5	HGNC	protein_coding	OTTHUMT00000171648.1	98	0.00	0	C			28337771	28337771	-1	no_errors	ENST00000284987	ensembl	human	known	69_37n	missense	63	14.86	11	SNP	1.000	G
ARHGAP36	158763	genome.wustl.edu	37	X	130220600	130220600	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0JM-01A-21W-A071-09	TCGA-AO-A0JM-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f070142b-f44e-4264-8919-dde7d02ad835	e8905dd3-81d6-424c-8329-33aba5498151	g.chrX:130220600C>T	ENST00000276211.5	+	11	1792	c.1447C>T	c.(1447-1449)Cgg>Tgg	p.R483W	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R347W|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R471W	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	483					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TGCTGAAGCCCGGGCTGCTGT	0.512																																						dbGAP											0													96.0	85.0	89.0					X																	130220600		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1447C>T	X.37:g.130220600C>T	ENSP00000276211:p.Arg483Trp		B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.R483W	ENST00000276211.5	37	c.1447	CCDS14628.1	X	.	.	.	.	.	.	.	.	.	.	C	1.038	-0.679766	0.03353	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.12255	2.7;2.71;2.72;2.72	4.32	1.52	0.23074	.	0.865783	0.09828	N	0.750599	T	0.06600	0.0169	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.37407	-0.9707	10	0.48119	T	0.1	.	4.3476	0.11139	0.0:0.4249:0.3636:0.2115	.	452;471;483	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	W	483;471;452;347	ENSP00000276211:R483W;ENSP00000359960:R471W;ENSP00000408515:R452W;ENSP00000359959:R347W	ENSP00000276211:R483W	R	+	1	2	ARHGAP36	130048281	0.016000	0.18221	0.000000	0.03702	0.079000	0.17450	0.505000	0.22642	0.178000	0.19917	-0.225000	0.12378	CGG	ARHGAP36	-	NULL	ENSG00000147256		0.512	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP36	HGNC	protein_coding	OTTHUMT00000355073.1	294	0.34	1	C	NM_144967		130220600	130220600	+1	no_errors	ENST00000276211	ensembl	human	known	69_37n	missense	100	15.25	18	SNP	0.001	T
ATM	472	genome.wustl.edu	37	11	108235935	108235935	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AO-A0JM-01A-21W-A071-09	TCGA-AO-A0JM-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f070142b-f44e-4264-8919-dde7d02ad835	e8905dd3-81d6-424c-8329-33aba5498151	g.chr11:108235935C>T	ENST00000452508.2	+	63	9166	c.8977C>T	c.(8977-8979)Cga>Tga	p.R2993*	ATM_ENST00000525178.1_3'UTR|C11orf65_ENST00000526725.1_Intron|C11orf65_ENST00000525729.1_Intron|ATM_ENST00000278616.4_Nonsense_Mutation_p.R2993*			Q13315	ATM_HUMAN	ATM serine/threonine kinase	2993					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	AGAATGCAAACGAAATCTCAG	0.413			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												dbGAP	yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0			GRCh37	CM960113	ATM	M							128.0	121.0	123.0					11																	108235935		2201	4298	6499	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.8977C>T	11.37:g.108235935C>T	ENSP00000388058:p.Arg2993*		B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Nonsense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.R2993*	ENST00000452508.2	37	c.8977	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	C	50	16.580870	0.99867	.	.	ENSG00000149311	ENST00000278616;ENST00000452508	.	.	.	5.52	3.44	0.39384	.	0.338429	0.29594	N	0.011712	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.6939	0.40145	0.2678:0.6297:0.1025:0.0	.	.	.	.	X	2993	.	ENSP00000278616:R2993X	R	+	1	2	ATM	107741145	1.000000	0.71417	0.986000	0.45419	0.835000	0.47333	1.651000	0.37302	1.333000	0.45449	-0.171000	0.13296	CGA	ATM	-	smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000149311		0.413	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	305	0.00	0	C	NM_000051		108235935	108235935	+1	no_errors	ENST00000278616	ensembl	human	known	69_37n	nonsense	82	62.90	139	SNP	1.000	T
BRPF3	27154	genome.wustl.edu	37	6	36178148	36178149	+	Missense_Mutation	DNP	TT	TT	AG			TCGA-AO-A0JM-01A-21W-A071-09	TCGA-AO-A0JM-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f070142b-f44e-4264-8919-dde7d02ad835	e8905dd3-81d6-424c-8329-33aba5498151	g.chr6:36178148_36178149TT>AG	ENST00000357641.6	+	6	2275_2276	c.2022_2023TT>AG	c.(2020-2025)atTTtc>atAGtc	p.F675V	BRPF3_ENST00000339717.7_Missense_Mutation_p.F675V|BRPF3_ENST00000543502.1_Missense_Mutation_p.F675V|BRPF3_ENST00000534694.1_Missense_Mutation_p.F675V|BRPF3_ENST00000534400.1_Missense_Mutation_p.F675V|BRPF3_ENST00000443324.2_Missense_Mutation_p.F675V	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	675	Bromo. {ECO:0000255|PROSITE- ProRule:PRU00035}.				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						AAGACACAATTTTCCACCGAGC	0.574																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			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	Exception_encountered	6.37:g.36178148_36178149delinsAG	ENSP00000350267:p.Phe675Val		A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Silent|Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain	p.I674|p.F675V	ENST00000357641.6	37	c.2022|c.2023	CCDS34437.1	6																																																																																			BRPF3	-	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	ENSG00000096070		0.574	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	BRPF3	HGNC	protein_coding	OTTHUMT00000040335.3	87|89	0.00	0	T	NM_015695		36178148|36178149	36178148|36178149	+1	no_errors	ENST00000357641	ensembl	human	known	69_37n	silent|missense	26	43.48|42.22	20|19	SNP	1.000	A|G
C3orf20	84077	genome.wustl.edu	37	3	14725873	14725873	+	Silent	SNP	C	C	T			TCGA-AO-A0JM-01A-21W-A071-09	TCGA-AO-A0JM-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f070142b-f44e-4264-8919-dde7d02ad835	e8905dd3-81d6-424c-8329-33aba5498151	g.chr3:14725873C>T	ENST00000253697.3	+	4	1061	c.609C>T	c.(607-609)agC>agT	p.S203S	C3orf20_ENST00000435614.1_Silent_p.S81S|C3orf20_ENST00000412910.1_Silent_p.S81S	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	203						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.S203S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GCTACAGCAGCGGACAGTTGT	0.542																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											93.0	78.0	83.0					3																	14725873		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.609C>T	3.37:g.14725873C>T			Q7L0U6|Q8NCP2|Q9H0I7	Silent	SNP	NULL	p.S203	ENST00000253697.3	37	c.609	CCDS33706.1	3																																																																																			C3orf20	-	NULL	ENSG00000131379		0.542	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf20	HGNC	protein_coding	OTTHUMT00000340586.1	106	0.93	1	C	NM_032137		14725873	14725873	+1	no_errors	ENST00000253697	ensembl	human	known	69_37n	silent	72	10.00	8	SNP	0.000	T
LSMEM1	286006	genome.wustl.edu	37	7	112124906	112124906	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0JM-01A-21W-A071-09	TCGA-AO-A0JM-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f070142b-f44e-4264-8919-dde7d02ad835	e8905dd3-81d6-424c-8329-33aba5498151	g.chr7:112124906G>A	ENST00000312849.4	+	2	396	c.35G>A	c.(34-36)gGc>gAc	p.G12D	LSMEM1_ENST00000439068.2_Missense_Mutation_p.G12D|LSMEM1_ENST00000429049.1_Missense_Mutation_p.G12D	NM_182597.2	NP_872403.1	Q8N8F7	LSME1_HUMAN	leucine-rich single-pass membrane protein 1	12						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											GGTTCTTGTGGCATTCAGGAA	0.433																																						dbGAP											0													158.0	149.0	152.0					7																	112124906		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK096894	CCDS5756.1	7q31.1	2013-03-08	2013-03-08	2013-03-08	ENSG00000181016	ENSG00000181016			22036	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 53"""	C7orf53			Standard	NM_182597		Approved	FLJ39575	uc011kmq.2	Q8N8F7	OTTHUMG00000155190	ENST00000312849.4:c.35G>A	7.37:g.112124906G>A	ENSP00000323304:p.Gly12Asp		Q49AR6	Missense_Mutation	SNP	NULL	p.G12D	ENST00000312849.4	37	c.35	CCDS5756.1	7	.	.	.	.	.	.	.	.	.	.	G	15.31	2.794533	0.50102	.	.	ENSG00000181016	ENST00000439068;ENST00000312849;ENST00000429049	.	.	.	5.81	0.162	0.14981	.	1.174850	0.05956	N	0.639796	T	0.31389	0.0795	L	0.39633	1.23	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.24977	-1.0145	9	0.10636	T	0.68	-14.4815	8.7004	0.34323	0.4913:0.0:0.5087:0.0	.	12	Q8N8F7	CG053_HUMAN	D	12	.	ENSP00000323304:G12D	G	+	2	0	C7orf53	111912142	0.003000	0.15002	0.000000	0.03702	0.659000	0.38960	0.838000	0.27572	0.073000	0.16731	-0.136000	0.14681	GGC	C7orf53	-	NULL	ENSG00000181016		0.433	LSMEM1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C7orf53	HGNC	protein_coding	OTTHUMT00000338716.2	240	0.00	0	G	NM_182597		112124906	112124906	+1	no_errors	ENST00000312849	ensembl	human	known	69_37n	missense	117	20.41	30	SNP	0.000	A
C7orf60	154743	genome.wustl.edu	37	7	112462138	112462138	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AO-A0JM-01A-21W-A071-09	TCGA-AO-A0JM-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f070142b-f44e-4264-8919-dde7d02ad835	e8905dd3-81d6-424c-8329-33aba5498151	g.chr7:112462138C>T	ENST00000297145.4	-	5	1044	c.879G>A	c.(877-879)tgG>tgA	p.W293*	C7orf60_ENST00000485446.1_5'Flank	NM_152556.2	NP_689769.2	Q1RMZ1	BMT2_HUMAN	chromosome 7 open reading frame 60	293							rRNA (adenine) methyltransferase activity (GO:0016433)			breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						TAGCAATCTTCCAGCTTTTCA	0.383																																						dbGAP											0													118.0	106.0	110.0					7																	112462138		1853	4106	5959	-	-	-	SO:0001587	stop_gained	0				CCDS43634.1	7q31.1	2011-01-11	2008-06-19		ENSG00000164603	ENSG00000164603			26475	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31818"""						Standard	NM_152556		Approved	DKFZp762M126, FLJ31818	uc003vgo.1	Q1RMZ1	OTTHUMG00000155233	ENST00000297145.4:c.879G>A	7.37:g.112462138C>T	ENSP00000297145:p.Trp293*		Q8N3D0|Q96MV7	Nonsense_Mutation	SNP	pfam_DUF3321	p.W293*	ENST00000297145.4	37	c.879	CCDS43634.1	7	.	.	.	.	.	.	.	.	.	.	C	17.33	3.363008	0.61403	.	.	ENSG00000164603	ENST00000297145;ENST00000432572;ENST00000358032	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-5.577	20.327	0.98704	0.0:1.0:0.0:0.0	.	.	.	.	X	293;275;240	.	ENSP00000297145:W293X	W	-	3	0	C7orf60	112249374	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.070000	0.71220	2.794000	0.96219	0.650000	0.86243	TGG	C7orf60	-	pfam_DUF3321	ENSG00000164603		0.383	C7orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7orf60	HGNC	protein_coding	OTTHUMT00000338923.1	138	0.00	0	C	NM_152556		112462138	112462138	-1	no_errors	ENST00000297145	ensembl	human	known	69_37n	nonsense	91	20.18	23	SNP	1.000	T
CHST9	83539	genome.wustl.edu	37	18	24496830	24496831	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AO-A0JM-01A-21W-A071-09	TCGA-AO-A0JM-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f070142b-f44e-4264-8919-dde7d02ad835	e8905dd3-81d6-424c-8329-33aba5498151	g.chr18:24496830_24496831insA	ENST00000284224.8	-	6	1001_1002	c.724_725insT	c.(724-726)tacfs	p.Y242fs	CHST9_ENST00000581714.1_Frame_Shift_Ins_p.Y242fs|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000578701.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	242					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					GGAGATGTTGTATGCAGAGGAA	0.391																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"""Sulfotransferases, membrane-bound"""	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.725dupT	18.37:g.24496831_24496831dupA	ENSP00000284224:p.Tyr242fs		Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Frame_Shift_Ins	INS	pfam_Sulfotransferase	p.Y242fs	ENST00000284224.8	37	c.725_724	CCDS42422.1	18																																																																																			CHST9	-	pfam_Sulfotransferase	ENSG00000154080		0.391	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST9	HGNC	protein_coding	OTTHUMT00000446549.1	343	0.00	0	-	NM_031422		24496830	24496831	-1	no_errors	ENST00000284224	ensembl	human	known	69_37n	frame_shift_ins	281	20.40	72	INS	0.218:0.145	A
DOCK7	85440	genome.wustl.edu	37	1	62979249	62979249	+	Missense_Mutation	SNP	C	C	A			TCGA-AO-A0JM-01A-21W-A071-09	TCGA-AO-A0JM-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f070142b-f44e-4264-8919-dde7d02ad835	e8905dd3-81d6-424c-8329-33aba5498151	g.chr1:62979249C>A	ENST00000340370.5	-	32	4072	c.4055G>T	c.(4054-4056)aGc>aTc	p.S1352I	DOCK7_ENST00000251157.5_Missense_Mutation_p.S1383I	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1383					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AAAGGTCAAGCTATTCATTCG	0.378																																						dbGAP											0													101.0	95.0	97.0					1																	62979249		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.4055G>T	1.37:g.62979249C>A	ENSP00000340742:p.Ser1352Ile		Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Missense_Mutation	SNP	pfam_DOCK,pfam_DUF3398,superfamily_ARM-type_fold	p.S1383I	ENST00000340370.5	37	c.4148	CCDS30734.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.4|23.4	4.408245|4.408245	0.83340|0.83340	.|.	.|.	ENSG00000116641|ENSG00000116641	ENST00000371140;ENST00000251157;ENST00000340370;ENST00000395441|ENST00000454575	T;T|.	0.01947|.	4.54;4.54|.	5.63|5.63	5.63|5.63	0.86233|0.86233	.|.	0.132316|.	0.64402|.	D|.	0.000004|.	T|.	0.68760|.	0.3036|.	L|L	0.43152|0.43152	1.355|1.355	0.80722|0.80722	D|D	1|1	D;D;D;D;D;P|.	0.69078|.	0.99;0.991;0.997;0.997;0.958;0.917|.	P;P;D;D;P;P|.	0.68483|.	0.811;0.823;0.958;0.958;0.823;0.755|.	T|.	0.63559|.	-0.6610|.	10|.	0.46703|.	T|.	0.11|.	.|.	19.6914|19.6914	0.96002|0.96002	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1383;1383;1352;1352;1352;1383|.	Q96N67;Q96N67-2;Q96N67-5;Q96N67-4;Q96N67-3;Q96N67-6|.	DOCK7_HUMAN;.;.;.;.;.|.	I|Y	1383;1383;1352;122|554	ENSP00000251157:S1383I;ENSP00000340742:S1352I|.	ENSP00000251157:S1383I|.	S|X	-|-	2|3	0|2	DOCK7|DOCK7	62751837|62751837	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	7.818000|7.818000	0.86416|0.86416	2.644000|2.644000	0.89710|0.89710	0.563000|0.563000	0.77884|0.77884	AGC|TAG	DOCK7	-	NULL	ENSG00000116641		0.378	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	HGNC	protein_coding	OTTHUMT00000036806.1	277	0.00	0	C	NM_033407		62979249	62979249	-1	no_errors	ENST00000251157	ensembl	human	known	69_37n	missense	214	18.01	47	SNP	1.000	A
EHBP1L1	254102	genome.wustl.edu	37	11	65350997	65350998	+	Frame_Shift_Ins	INS	-	-	G			TCGA-AO-A0JM-01A-21W-A071-09	TCGA-AO-A0JM-10A-01W-A071-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f070142b-f44e-4264-8919-dde7d02ad835	e8905dd3-81d6-424c-8329-33aba5498151	g.chr11:65350997_65350998insG	ENST00000309295.4	+	9	3119_3120	c.2854_2855insG	c.(2854-2856)tggfs	p.W952fs		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	952						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ATCTGGGGCTTGGGGGGCCCAG	0.54																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.2860dupG	11.37:g.65351003_65351003dupG	ENSP00000312671:p.Trp952fs		Q8TB89|Q9H7M7	Frame_Shift_Ins	INS	pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.A954fs	ENST00000309295.4	37	c.2854_2855	CCDS44649.1	11																																																																																			EHBP1L1	-	NULL	ENSG00000173442		0.540	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHBP1L1	HGNC	protein_coding	OTTHUMT00000390145.1	18	0.00	0	-	XM_170658		65350997	65350998	+1	no_errors	ENST00000309295	ensembl	human	known	69_37n	frame_shift_ins	14	12.50	2	INS	0.003:0.028	G
FBXO24	26261	genome.wustl.edu	37	7	100187289	100187289	+	Intron	SNP	G	G	T			TCGA-AO-A0JM-01A-21W-A071-09	TCGA-AO-A0JM-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f070142b-f44e-4264-8919-dde7d02ad835	e8905dd3-81d6-424c-8329-33aba5498151	g.chr7:100187289G>T	ENST00000241071.6	+	2	361				FBXO24_ENST00000360609.2_Intron|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000465843.1_Intron|FBXO24_ENST00000468962.1_Intron|FBXO24_ENST00000498195.1_Intron|FBXO24_ENST00000427939.2_Missense_Mutation_p.R9L	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24						protein ubiquitination (GO:0016567)	ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CAGCAGGAACGGGGGGGCCAA	0.647																																						dbGAP											0													31.0	35.0	34.0					7																	100187289		692	1591	2283	-	-	-	SO:0001627	intron_variant	0			AF174604	CCDS5698.1, CCDS5699.1, CCDS5699.2, CCDS55138.1	7q22	2005-10-07	2004-06-15		ENSG00000106336	ENSG00000106336		"""F-boxes /  ""other"""""	13595	protein-coding gene	gene with protein product		609097	"""F-box only protein 24"""			10531035, 10531037	Standard	NM_012172		Approved	FBX24	uc011kjz.1	O75426	OTTHUMG00000159543	ENST00000241071.6:c.40-311G>T	7.37:g.100187289G>T			A4D2D4|B4DX91|B4DY42|Q9H0G1	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like,pfscan_Reg_chr_condens	p.R9L	ENST00000241071.6	37	c.26	CCDS5698.1	7	.	.	.	.	.	.	.	.	.	.	g	3.510	-0.100027	0.07010	.	.	ENSG00000106336	ENST00000427939	T	0.14022	2.54	2.59	0.365	0.16131	.	.	.	.	.	T	0.09555	0.0235	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31916	-0.9926	8	0.87932	D	0	.	4.4001	0.11383	0.2602:0.4827:0.2571:0.0	.	9	B4DX91	.	L	9	ENSP00000416558:R9L	ENSP00000416558:R9L	R	+	2	0	FBXO24	100025225	0.719000	0.27986	0.002000	0.10522	0.217000	0.24651	0.736000	0.26130	0.416000	0.25844	-0.993000	0.02533	CGG	FBXO24	-	NULL	ENSG00000106336		0.647	FBXO24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO24	HGNC	protein_coding	OTTHUMT00000356104.1	23	0.00	0	G			100187289	100187289	+1	no_errors	ENST00000427939	ensembl	human	known	69_37n	missense	4	63.64	7	SNP	0.000	T
FSD1	79187	genome.wustl.edu	37	19	4311943	4311943	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0JM-01A-21W-A071-09	TCGA-AO-A0JM-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f070142b-f44e-4264-8919-dde7d02ad835	e8905dd3-81d6-424c-8329-33aba5498151	g.chr19:4311943G>A	ENST00000221856.6	+	7	742	c.595G>A	c.(595-597)Gtg>Atg	p.V199M	FSD1_ENST00000598010.1_3'UTR|FSD1_ENST00000597590.1_Missense_Mutation_p.V199M	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	199	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		TGACCACTACGTGCTGGAGTA	0.632																																						dbGAP											0													117.0	83.0	95.0					19																	4311943		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF316829	CCDS12127.1	19p13.3	2013-02-11	2005-03-01			ENSG00000105255		"""Fibronectin type III domain containing"""	13745	protein-coding gene	gene with protein product		609828	"""fibronectin type 3 and SPRY domain containing 1"""			11267680	Standard	NM_024333		Approved	MGC3213, MIR1	uc002lzy.2	Q9BTV5		ENST00000221856.6:c.595G>A	19.37:g.4311943G>A	ENSP00000221856:p.Val199Met		B2RDT0|Q9BXN0|Q9HAG4	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.V199M	ENST00000221856.6	37	c.595	CCDS12127.1	19	.	.	.	.	.	.	.	.	.	.	G	19.46	3.831731	0.71258	.	.	ENSG00000105255	ENST00000221856	T	0.57436	0.4	5.33	5.33	0.75918	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.062822	0.64402	D	0.000006	T	0.70842	0.3270	M	0.85197	2.74	0.36279	D	0.855638	D	0.59767	0.986	D	0.65773	0.938	T	0.77536	-0.2551	10	0.42905	T	0.14	.	10.026	0.42072	0.0922:0.0:0.9078:0.0	.	199	Q9BTV5	FSD1_HUMAN	M	199	ENSP00000221856:V199M	ENSP00000221856:V199M	V	+	1	0	FSD1	4262943	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	5.153000	0.64888	2.491000	0.84063	0.561000	0.74099	GTG	FSD1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000105255		0.632	FSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSD1	HGNC	protein_coding	OTTHUMT00000458091.1	20	0.00	0	G	NM_024333		4311943	4311943	+1	no_errors	ENST00000221856	ensembl	human	known	69_37n	missense	4	50.00	4	SNP	1.000	A
FBXO27	126433	genome.wustl.edu	37	19	39517580	39517580	+	Missense_Mutation	SNP	T	T	C			TCGA-AO-A0JM-01A-21W-A071-09	TCGA-AO-A0JM-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f070142b-f44e-4264-8919-dde7d02ad835	e8905dd3-81d6-424c-8329-33aba5498151	g.chr19:39517580T>C	ENST00000292853.4	-	5	757	c.638A>G	c.(637-639)cAg>cGg	p.Q213R	FBXO27_ENST00000509137.2_Missense_Mutation_p.Q213R|FBXO27_ENST00000600828.1_Missense_Mutation_p.Q212R	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	213	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)	glycoprotein binding (GO:0001948)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TAGAACAGTCTGGTTGGCGTC	0.562																																						dbGAP											0													192.0	178.0	183.0					19																	39517580		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF436061	CCDS12527.1	19q13.2	2008-02-05	2004-06-15			ENSG00000161243		"""F-boxes /  ""other"""""	18753	protein-coding gene	gene with protein product		609099	"""F-box only protein 27"""			126433	Standard	NM_178820		Approved	Fbg5, Fbx27	uc002okh.3	Q8NI29		ENST00000292853.4:c.638A>G	19.37:g.39517580T>C	ENSP00000292853:p.Gln213Arg		Q96C87	Missense_Mutation	SNP	pfam_F-box-assoc_dom,pfam_F-box_dom_cyclin-like,superfamily_Galactose-bd-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like,pfscan_F-box-assoc_dom	p.Q213R	ENST00000292853.4	37	c.638	CCDS12527.1	19	.	.	.	.	.	.	.	.	.	.	T	7.820	0.717503	0.15372	.	.	ENSG00000161243	ENST00000292853;ENST00000509137	T;T	0.31510	1.49;1.49	4.06	3.05	0.35203	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);	0.308416	0.22761	N	0.055942	T	0.16257	0.0391	N	0.13168	0.305	0.09310	N	0.999995	B	0.24721	0.11	B	0.34301	0.179	T	0.28996	-1.0026	10	0.12103	T	0.63	-6.4061	5.5688	0.17184	0.0:0.1225:0.0:0.8775	.	213	Q8NI29	FBX27_HUMAN	R	213	ENSP00000292853:Q213R;ENSP00000437662:Q213R	ENSP00000292853:Q213R	Q	-	2	0	FBXO27	44209420	0.002000	0.14202	0.351000	0.25721	0.231000	0.25187	0.253000	0.18296	1.830000	0.53286	0.402000	0.26972	CAG	FBXO27	-	pfam_F-box-assoc_dom,superfamily_Galactose-bd-like,pfscan_F-box-assoc_dom	ENSG00000161243		0.562	FBXO27-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXO27	HGNC	protein_coding	OTTHUMT00000463281.1	178	0.00	0	T			39517580	39517580	-1	no_errors	ENST00000292853	ensembl	human	known	69_37n	missense	25	62.69	42	SNP	0.360	C
GBE1	2632	genome.wustl.edu	37	3	81698093	81698093	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0JM-01A-21W-A071-09	TCGA-AO-A0JM-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f070142b-f44e-4264-8919-dde7d02ad835	e8905dd3-81d6-424c-8329-33aba5498151	g.chr3:81698093G>C	ENST00000429644.2	-	5	1248	c.605C>G	c.(604-606)tCt>tGt	p.S202C	GBE1_ENST00000489715.1_Missense_Mutation_p.S161C	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	202					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		TCCCACATGAGATTCATAAAT	0.348									Glycogen Storage Disease, type IV																													dbGAP											0													45.0	43.0	43.0					3																	81698093		1803	4058	5861	-	-	-	SO:0001583	missense	0	Familial Cancer Database	Andersen Disease, Brancher deficiency		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"""glycogen branching enzyme"", ""Andersen disease"", ""glycogen storage disease type IV"""	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.605C>G	3.37:g.81698093G>C	ENSP00000410833:p.Ser202Cys		B3KWV3|Q96EN0	Missense_Mutation	SNP	pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom	p.S202C	ENST00000429644.2	37	c.605	CCDS54612.1	3	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004081	0.35320	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715	D;D	0.86030	-2.06;-2.06	5.92	4.99	0.66335	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.108219	0.64402	D	0.000004	T	0.72755	0.3500	N	0.05608	-0.01	0.43745	D	0.99624	B;B	0.06786	0.001;0.001	B;B	0.08055	0.002;0.003	T	0.67225	-0.5724	10	0.36615	T	0.2	-31.991	16.5856	0.84727	0.0:0.1301:0.8699:0.0	.	161;202	E9PGM4;Q04446	.;GLGB_HUMAN	C	202;253;161	ENSP00000410833:S202C;ENSP00000419638:S161C	ENSP00000264326:S253C	S	-	2	0	GBE1	81780783	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.454000	0.60068	2.795000	0.96236	0.655000	0.94253	TCT	GBE1	-	superfamily_Glycoside_hydrolase_SF	ENSG00000114480		0.348	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBE1	HGNC	protein_coding	OTTHUMT00000352760.2	51	0.00	0	G			81698093	81698093	-1	no_errors	ENST00000429644	ensembl	human	known	69_37n	missense	40	18.37	9	SNP	1.000	C
GABRR3	200959	genome.wustl.edu	37	3	97726675	97726675	+	RNA	SNP	C	C	G			TCGA-AO-A0JM-01A-21W-A071-09	TCGA-AO-A0JM-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f070142b-f44e-4264-8919-dde7d02ad835	e8905dd3-81d6-424c-8329-33aba5498151	g.chr3:97726675C>G	ENST00000472788.1	-	0	688					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3 (gene/pseudogene)						gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			large_intestine(2)|lung(1)	3					Adinazolam(DB00546)|Bromazepam(DB01558)|Cinolazepam(DB01594)|Clotiazepam(DB01559)|Diazepam(DB00829)|Estazolam(DB01215)|Fludiazepam(DB01567)|Flurazepam(DB00690)|Halazepam(DB00801)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Prazepam(DB01588)|Quazepam(DB01589)|Temazepam(DB00231)|Triazolam(DB00897)	GAGAAAGGGACATATGTTCTT	0.378																																						dbGAP											0													174.0	164.0	167.0					3																	97726675		1930	4146	6076	-	-	-			0			Y18994	CCDS54617.1	3q11.2	2014-03-25	2014-03-25		ENSG00000183185	ENSG00000183185		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	17969	protein-coding gene	gene with protein product	"""GABA(A) receptor, rho 3"""		"""gamma-aminobutyric acid (GABA) receptor, rho 3"", ""gamma-aminobutyric acid (GABA) A receptor, rho 3"""			10542332	Standard	NM_001105580		Approved		uc021xbp.1	A8MPY1	OTTHUMG00000159135		3.37:g.97726675C>G			Q9UIV9	Missense_Mutation	SNP	NULL	p.M229I	ENST00000472788.1	37	c.687		3																																																																																			GABRR3	-	NULL	ENSG00000183185		0.378	GABRR3-002	KNOWN	not_organism_supported|basic	polymorphic_pseudogene	GABRR3	HGNC	polymorphic_pseudogene	OTTHUMT00000353445.2	71	0.00	0	C			97726675	97726675	-1	pseudogene	ENST00000472788	ensembl	human	known	69_37n	missense	36	38.33	23	SNP	1.000	G
GOSR1	9527	genome.wustl.edu	37	17	28817222	28817222	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AO-A0JM-01A-21W-A071-09	TCGA-AO-A0JM-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f070142b-f44e-4264-8919-dde7d02ad835	e8905dd3-81d6-424c-8329-33aba5498151	g.chr17:28817222C>T	ENST00000225724.5	+	5	499	c.427C>T	c.(427-429)Cga>Tga	p.R143*	GOSR1_ENST00000581721.1_Nonsense_Mutation_p.R143*|GOSR1_ENST00000451249.2_Nonsense_Mutation_p.R141*|GOSR1_ENST00000467337.2_Nonsense_Mutation_p.R78*	NM_001007024.1|NM_001007025.1|NM_004871.2	NP_001007025.1|NP_001007026.1|NP_004862.1	O95249	GOSR1_HUMAN	golgi SNAP receptor complex member 1	143					ER to Golgi vesicle-mediated transport (GO:0006888)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)	p.R143*(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	12						GGGATCAGTACGAAAAGATAT	0.313																																						dbGAP											1	Substitution - Nonsense(1)	large_intestine(1)											78.0	72.0	74.0					17																	28817222		2203	4299	6502	-	-	-	SO:0001587	stop_gained	0			AF047438	CCDS11258.1, CCDS45643.1, CCDS45644.1	17q11	2011-04-15			ENSG00000108587	ENSG00000108587			4430	protein-coding gene	gene with protein product	"""golgi integral membrane protein 2"""	604026				8638159, 9653160, 15004235	Standard	XM_005258072		Approved	GOS28, P28, GS28, GOS-28, GOLIM2	uc002hfe.3	O95249	OTTHUMG00000132796	ENST00000225724.5:c.427C>T	17.37:g.28817222C>T	ENSP00000225724:p.Arg143*		J3KST5|O75392	Nonsense_Mutation	SNP	NULL	p.R143*	ENST00000225724.5	37	c.427	CCDS11258.1	17	.	.	.	.	.	.	.	.	.	.	C	17.01	3.278231	0.59758	.	.	ENSG00000108587	ENST00000225724;ENST00000451249;ENST00000414833;ENST00000427274	.	.	.	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.9771	18.2606	0.90034	0.0:1.0:0.0:0.0	.	.	.	.	X	143;141;78;141	.	ENSP00000225724:R143X	R	+	1	2	GOSR1	25841348	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.580000	0.53907	2.658000	0.90341	0.563000	0.77884	CGA	GOSR1	-	NULL	ENSG00000108587		0.313	GOSR1-001	KNOWN	basic|CCDS	protein_coding	GOSR1	HGNC	protein_coding	OTTHUMT00000256208.2	101	0.00	0	C			28817222	28817222	+1	no_errors	ENST00000225724	ensembl	human	known	69_37n	nonsense	71	21.74	20	SNP	1.000	T
GTF3C3	9330	genome.wustl.edu	37	2	197662581	197662581	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0JM-01A-21W-A071-09	TCGA-AO-A0JM-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f070142b-f44e-4264-8919-dde7d02ad835	e8905dd3-81d6-424c-8329-33aba5498151	g.chr2:197662581C>T	ENST00000263956.3	-	2	243	c.154G>A	c.(154-156)Gaa>Aaa	p.E52K	GTF3C3_ENST00000409364.3_Missense_Mutation_p.E52K	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	52					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						GATGGAACTTCAGAGTCATCG	0.348																																						dbGAP											0													152.0	150.0	151.0					2																	197662581		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF133123	CCDS2316.1, CCDS56153.1	2q33.1	2013-01-10	2002-08-29		ENSG00000119041	ENSG00000119041		"""General transcription factors"", ""Tetratricopeptide (TTC) repeat domain containing"""	4666	protein-coding gene	gene with protein product		604888	"""general transcription factor IIIC, polypeptide 3 (102kD)"""			10373544	Standard	NM_001206774		Approved	TFiiiC2-102, TFIIIC102	uc002uts.3	Q9Y5Q9	OTTHUMG00000154633	ENST00000263956.3:c.154G>A	2.37:g.197662581C>T	ENSP00000263956:p.Glu52Lys		Q4ZG48|Q86XJ8|Q8WX84|Q96B44|Q9H5I8|Q9NT97	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E52K	ENST00000263956.3	37	c.154	CCDS2316.1	2	.	.	.	.	.	.	.	.	.	.	C	17.41	3.383639	0.61845	.	.	ENSG00000119041	ENST00000263956;ENST00000409364	T;T	0.45668	0.89;0.91	5.42	5.42	0.78866	.	0.367766	0.27522	N	0.018984	T	0.30230	0.0758	N	0.14661	0.345	0.34421	D	0.697454	P;B	0.40534	0.72;0.016	B;B	0.41202	0.35;0.007	T	0.32824	-0.9892	10	0.25106	T	0.35	-14.3037	16.0793	0.80989	0.0:1.0:0.0:0.0	.	52;52	Q9Y5Q9-2;Q9Y5Q9	.;TF3C3_HUMAN	K	52	ENSP00000263956:E52K;ENSP00000386465:E52K	ENSP00000263956:E52K	E	-	1	0	GTF3C3	197370826	0.994000	0.37717	0.988000	0.46212	0.995000	0.86356	4.105000	0.57797	2.820000	0.97059	0.650000	0.86243	GAA	GTF3C3	-	NULL	ENSG00000119041		0.348	GTF3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C3	HGNC	protein_coding	OTTHUMT00000256104.1	68	0.00	0	C			197662581	197662581	-1	no_errors	ENST00000263956	ensembl	human	known	69_37n	missense	34	29.17	14	SNP	0.995	T
GTSE1	51512	genome.wustl.edu	37	22	46712078	46712078	+	Missense_Mutation	SNP	G	G	A			TCGA-AO-A0JM-01A-21W-A071-09	TCGA-AO-A0JM-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f070142b-f44e-4264-8919-dde7d02ad835	e8905dd3-81d6-424c-8329-33aba5498151	g.chr22:46712078G>A	ENST00000454366.1	+	7	1413	c.1201G>A	c.(1201-1203)Gat>Aat	p.D401N		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	382					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|microtubule-based process (GO:0007017)	cytoplasmic microtubule (GO:0005881)|membrane (GO:0016020)				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CAAGCGGGTCGATGTTTCTGA	0.662																																					GBM(153;542 1915 12487 29016 50495)	dbGAP											0													31.0	36.0	34.0					22																	46712078		2203	4298	6501	-	-	-	SO:0001583	missense	0			AF223408	CCDS14074.2	22q13.2-q13.3	2008-06-10			ENSG00000075218	ENSG00000075218			13698	protein-coding gene	gene with protein product		607477				10974554, 10984615, 12750368	Standard	NM_016426		Approved	GTSE-1, B99	uc011aqy.2	Q9NYZ3	OTTHUMG00000150486	ENST00000454366.1:c.1201G>A	22.37:g.46712078G>A	ENSP00000415430:p.Asp401Asn		B0QYM3|Q20WK2|Q53GX5|Q5R3I6|Q6DHX4|Q9BRE0|Q9UGZ9|Q9Y557	Missense_Mutation	SNP	NULL	p.D401N	ENST00000454366.1	37	c.1201	CCDS14074.2	22	.	.	.	.	.	.	.	.	.	.	G	11.49	1.653130	0.29425	.	.	ENSG00000075218	ENST00000454366;ENST00000361934	T	0.06849	3.25	4.95	-3.65	0.04502	.	2.743480	0.00698	N	0.000768	T	0.03477	0.0100	N	0.08118	0	0.09310	N	1	B;B	0.24618	0.107;0.107	B;B	0.13407	0.005;0.009	T	0.32348	-0.9910	10	0.21014	T	0.42	-0.3178	1.6707	0.02811	0.4458:0.1798:0.2449:0.1295	.	382;361	Q9NYZ3;B4DZT6	GTSE1_HUMAN;.	N	401;361	ENSP00000415430:D401N	ENSP00000354634:D361N	D	+	1	0	GTSE1	45090742	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.929000	0.03976	-0.233000	0.09797	0.650000	0.86243	GAT	GTSE1	-	NULL	ENSG00000075218		0.662	GTSE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTSE1	HGNC	protein_coding	OTTHUMT00000318360.2	78	0.00	0	G	NM_016426		46712078	46712078	+1	no_errors	ENST00000454366	ensembl	human	known	69_37n	missense	18	67.86	38	SNP	0.000	A
MALAT1	378938	genome.wustl.edu	37	11	65272844	65272844	+	lincRNA	SNP	G	G	C			TCGA-AO-A0JM-01A-21W-A071-09	TCGA-AO-A0JM-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f070142b-f44e-4264-8919-dde7d02ad835	e8905dd3-81d6-424c-8329-33aba5498151	g.chr11:65272844G>C	ENST00000534336.1	+	0	7612					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		AGGAATGCTTGAAGTACCCCT	0.438																																						dbGAP											0													49.0	48.0	48.0					11																	65272844		874	1988	2862	-	-	-			0			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65272844G>C				RNA	SNP	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-	ENSG00000251562		0.438	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	80	0.00	0	G	NR_002819		65272844	65272844	+1	no_errors	ENST00000534336	ensembl	human	known	69_37n	rna	153	17.74	33	SNP	0.011	C
MALAT1	378938	genome.wustl.edu	37	11	65273176	65273176	+	lincRNA	SNP	G	G	A			TCGA-AO-A0JM-01A-21W-A071-09	TCGA-AO-A0JM-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f070142b-f44e-4264-8919-dde7d02ad835	e8905dd3-81d6-424c-8329-33aba5498151	g.chr11:65273176G>A	ENST00000534336.1	+	0	7944					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		AACTATGTTAGAAAAGGCCAT	0.408																																						dbGAP											0													126.0	116.0	119.0					11																	65273176		874	1988	2862	-	-	-			0			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65273176G>A				RNA	SNP	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-	ENSG00000251562		0.408	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	174	0.00	0	G	NR_002819		65273176	65273176	+1	no_errors	ENST00000534336	ensembl	human	known	69_37n	rna	285	16.86	58	SNP	0.274	A
MTF2	22823	genome.wustl.edu	37	1	93594865	93594865	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A0JM-01A-21W-A071-09	TCGA-AO-A0JM-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f070142b-f44e-4264-8919-dde7d02ad835	e8905dd3-81d6-424c-8329-33aba5498151	g.chr1:93594865G>C	ENST00000370298.4	+	11	1309	c.1020G>C	c.(1018-1020)aaG>aaC	p.K340N	MTF2_ENST00000540243.1_Missense_Mutation_p.K238N|MTF2_ENST00000545708.1_Missense_Mutation_p.K238N|MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000370303.4_Intron	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	340					chromatin modification (GO:0016568)|negative regulation of histone H3-K27 methylation (GO:0061086)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|segment specification (GO:0007379)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	DNA binding (GO:0003677)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		TAAAGAAGAAGAAGCATTTGT	0.323																																						dbGAP											0													81.0	84.0	83.0					1																	93594865		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ010014	CCDS742.1, CCDS53340.1, CCDS53341.1	1p22.1	2013-01-28			ENSG00000143033	ENSG00000143033		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	29535	protein-coding gene	gene with protein product	"""polycomb-like 2"", ""tudor domain containing 19A"""	609882				15563832	Standard	NM_007358		Approved	M96, PCL2, TDRD19A	uc009wdj.3	Q9Y483	OTTHUMG00000010161	ENST00000370298.4:c.1020G>C	1.37:g.93594865G>C	ENSP00000359321:p.Lys340Asn		A6NGQ9|A8K2Q3|B1AKT5|B1AKT6|Q9UES9|Q9UP40	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.K340N	ENST00000370298.4	37	c.1020	CCDS742.1	1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.235180	0.79800	.	.	ENSG00000143033	ENST00000545708;ENST00000540243;ENST00000370298;ENST00000537953	T;T;T	0.27557	1.66;1.66;1.66	5.55	5.55	0.83447	.	0.045594	0.85682	D	0.000000	T	0.47135	0.1429	M	0.78637	2.42	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.67900	0.942;0.954	T	0.45234	-0.9275	10	0.54805	T	0.06	-5.1967	14.0911	0.64990	0.072:0.0:0.928:0.0	.	340;238	Q9Y483;B4DZG1	MTF2_HUMAN;.	N	238;238;340;238	ENSP00000444962:K238N;ENSP00000443295:K238N;ENSP00000359321:K340N	ENSP00000359321:K340N	K	+	3	2	MTF2	93367453	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.941000	0.75922	2.753000	0.94483	0.655000	0.94253	AAG	MTF2	-	NULL	ENSG00000143033		0.323	MTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTF2	HGNC	protein_coding	OTTHUMT00000028075.3	162	0.00	0	G	NM_007358		93594865	93594865	+1	no_errors	ENST00000370298	ensembl	human	known	69_37n	missense	140	19.54	34	SNP	1.000	C
MDM4	4194	genome.wustl.edu	37	1	204513770	204513770	+	Silent	SNP	T	T	G	rs201605126		TCGA-AO-A0JM-01A-21W-A071-09	TCGA-AO-A0JM-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f070142b-f44e-4264-8919-dde7d02ad835	e8905dd3-81d6-424c-8329-33aba5498151	g.chr1:204513770T>G	ENST00000367182.3	+	9	942	c.780T>G	c.(778-780)acT>acG	p.T260T	MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000367183.3_Intron|MDM4_ENST00000507825.2_Intron|MDM4_ENST00000454264.2_Intron|MDM4_ENST00000391947.2_3'UTR	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	MDM4, p53 regulator	260	Asp/Glu-rich (acidic).|Region II.				cell proliferation (GO:0008283)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|G0 to G1 transition (GO:0045023)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell proliferation (GO:0008284)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)	nucleus (GO:0005634)	enzyme binding (GO:0019899)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CTGCTGATACTGAACAAACAA	0.368			A		"""GBM, bladder, retinoblastoma"""																																	dbGAP		Dom	yes		1	1q32	4194	Mdm4 p53 binding protein homolog		M	0													143.0	142.0	142.0					1																	204513770		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF007111	CCDS1447.1, CCDS55674.1, CCDS55675.1, CCDS60396.1, CCDS73007.1, CCDS73008.1, CCDS73009.1	1q32	2014-03-03	2014-03-03		ENSG00000198625	ENSG00000198625			6974	protein-coding gene	gene with protein product		602704	"""mouse double minute 4, human homolog of; p53-binding protein"", ""Mdm4, transformed 3T3 cell double minute 4, p53 binding protein (mouse)"", ""Mdm4 p53 binding protein homolog (mouse)"""			9226370, 14660608	Standard	NM_002393		Approved	MDMX, HDMX	uc001hba.3	O15151	OTTHUMG00000035877	ENST00000367182.3:c.780T>G	1.37:g.204513770T>G			Q2M2Y2|Q32SL2|Q6GS18|Q8IV83	Silent	SNP	pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2,pfscan_Znf_RING	p.T260	ENST00000367182.3	37	c.780	CCDS1447.1	1																																																																																			MDM4	-	pirsf_p53_neg-reg_MDM_2/4	ENSG00000198625		0.368	MDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDM4	HGNC	protein_coding	OTTHUMT00000087415.2	93	0.00	0	T	NM_002393		204513770	204513770	+1	no_errors	ENST00000367182	ensembl	human	known	69_37n	silent	75	19.35	18	SNP	0.788	G
PHLPP2	23035	genome.wustl.edu	37	16	71697861	71697862	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-AO-A0JM-01A-21W-A071-09	TCGA-AO-A0JM-10A-01W-A071-09	CC	CC					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f070142b-f44e-4264-8919-dde7d02ad835	e8905dd3-81d6-424c-8329-33aba5498151	g.chr16:71697861_71697862delCC	ENST00000568954.1	-	13	2303_2304	c.1925_1926delGG	c.(1924-1926)gggfs	p.G642fs	PHLPP2_ENST00000360429.3_Frame_Shift_Del_p.G642fs|RNU6-208P_ENST00000362431.1_RNA|PHLPP2_ENST00000356272.3_Frame_Shift_Del_p.G642fs|PHLPP2_ENST00000567016.1_Frame_Shift_Del_p.G677fs|PHLPP2_ENST00000393524.2_Intron|RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000540628.1_5'UTR			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	642					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment membrane (GO:0042622)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GGTGCAGGTGCCCTACCAGGAC	0.46																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BX647823	CCDS32479.1, CCDS73910.1	16q22.2	2013-01-11	2009-05-26	2009-05-26	ENSG00000040199	ENSG00000040199		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	29149	protein-coding gene	gene with protein product		611066	"""PH domain and leucine rich repeat protein phosphatase-like"""	PHLPPL		17386267	Standard	NM_001289003		Approved	KIAA0931	uc002fax.3	Q6ZVD8		ENST00000568954.1:c.1925_1926delGG	16.37:g.71697861_71697862delCC	ENSP00000457991:p.Gly642fs		A1L374|Q9NV17|Q9Y2E3	Frame_Shift_Del	DEL	pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like	p.G642fs	ENST00000568954.1	37	c.1926_1925	CCDS32479.1	16																																																																																			PHLPP2	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000040199		0.460	PHLPP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHLPP2	HGNC	protein_coding	OTTHUMT00000434139.1	100	0.00	0	CC	NM_015020		71697861	71697862	-1	no_errors	ENST00000356272	ensembl	human	known	69_37n	frame_shift_del	54	11.48	7	DEL	0.959:1.000	-
PPP1R9A	55607	genome.wustl.edu	37	7	94915619	94915619	+	Missense_Mutation	SNP	A	A	C			TCGA-AO-A0JM-01A-21W-A071-09	TCGA-AO-A0JM-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f070142b-f44e-4264-8919-dde7d02ad835	e8905dd3-81d6-424c-8329-33aba5498151	g.chr7:94915619A>C	ENST00000433881.1	+	13	3391	c.2859A>C	c.(2857-2859)ttA>ttC	p.L953F	PPP1R9A_ENST00000340694.4_Missense_Mutation_p.L953F|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.L1177F|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.L1177F|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.L1237F|PPP1R9A_ENST00000289495.5_Missense_Mutation_p.L1159F			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	953	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			CTCAGTCCTTAGCACTGTCAT	0.453										HNSCC(28;0.073)																												dbGAP											0													86.0	72.0	77.0					7																	94915619		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2859A>C	7.37:g.94915619A>C	ENSP00000398870:p.Leu953Phe		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM	p.L1159F	ENST00000433881.1	37	c.3477	CCDS34683.1	7	.	.	.	.	.	.	.	.	.	.	A	11.23	1.577490	0.28180	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.39056	2.09;2.27;1.1;2.27;2.08;1.1	5.11	-5.75	0.02384	.	0.105878	0.34411	N	0.003991	T	0.38799	0.1054	L	0.33485	1.01	0.09310	N	1	P;P;D;D;P;B	0.57899	0.846;0.633;0.977;0.981;0.933;0.264	B;B;P;P;P;B	0.58873	0.372;0.297;0.847;0.708;0.542;0.054	T	0.44267	-0.9339	10	0.66056	D	0.02	.	9.2635	0.37627	0.4233:0.0:0.4749:0.1018	.	953;1159;1237;1177;1177;953	B7ZLX4;F8W7J9;E9PDX1;D6W5R0;E9PCK6;Q9ULJ8	.;.;.;.;.;NEB1_HUMAN	F	1237;953;1177;953;1159;1177	ENSP00000405514:L1237F;ENSP00000344524:L953F;ENSP00000411342:L1177F;ENSP00000398870:L953F;ENSP00000289495:L1159F;ENSP00000402893:L1177F	ENSP00000289495:L1159F	L	+	3	2	PPP1R9A	94753555	0.999000	0.42202	0.027000	0.17364	0.210000	0.24377	0.817000	0.27281	-0.982000	0.03515	-1.292000	0.01352	TTA	PPP1R9A	-	NULL	ENSG00000158528		0.453	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R9A	HGNC	protein_coding	OTTHUMT00000340662.1	148	0.00	0	A	NM_001166160		94915619	94915619	+1	no_errors	ENST00000289495	ensembl	human	known	69_37n	missense	93	21.19	25	SNP	0.091	C
PRKDC	5591	genome.wustl.edu	37	8	48761994	48761994	+	Missense_Mutation	SNP	T	T	G			TCGA-AO-A0JM-01A-21W-A071-09	TCGA-AO-A0JM-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f070142b-f44e-4264-8919-dde7d02ad835	e8905dd3-81d6-424c-8329-33aba5498151	g.chr8:48761994T>G	ENST00000314191.2	-	54	7129	c.7073A>C	c.(7072-7074)aAg>aCg	p.K2358T	PRKDC_ENST00000338368.3_Missense_Mutation_p.K2358T|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2359					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	CACAATAAACTTGTCCTCCAT	0.458								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	dbGAP											0													167.0	158.0	161.0					8																	48761994		1896	4130	6026	-	-	-	SO:0001583	missense	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.7073A>C	8.37:g.48761994T>G	ENSP00000313420:p.Lys2358Thr		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.K2358T	ENST00000314191.2	37	c.7073		8	.	.	.	.	.	.	.	.	.	.	T	19.17	3.775713	0.70107	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.65364	-0.15;-0.15	5.12	5.12	0.69794	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.78916	0.4359	M	0.80616	2.505	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.68621	0.959;0.959	T	0.82442	-0.0455	10	0.87932	D	0	.	14.4026	0.67060	0.0:0.0:0.0:1.0	.	2358;2359	E7EUY0;P78527	.;PRKDC_HUMAN	T	2358	ENSP00000313420:K2358T;ENSP00000345182:K2358T	ENSP00000313420:K2358T	K	-	2	0	PRKDC	48924547	1.000000	0.71417	0.997000	0.53966	0.553000	0.35397	7.337000	0.79256	2.054000	0.61138	0.533000	0.62120	AAG	PRKDC	-	superfamily_ARM-type_fold	ENSG00000253729		0.458	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		252	0.00	0	T	NM_001081640		48761994	48761994	-1	no_errors	ENST00000314191	ensembl	human	known	69_37n	missense	73	56.80	96	SNP	1.000	G
RASSF2	9770	genome.wustl.edu	37	20	4776604	4776604	+	Silent	SNP	G	G	A			TCGA-AO-A0JM-01A-21W-A071-09	TCGA-AO-A0JM-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f070142b-f44e-4264-8919-dde7d02ad835	e8905dd3-81d6-424c-8329-33aba5498151	g.chr20:4776604G>A	ENST00000379400.3	-	5	339	c.144C>T	c.(142-144)gaC>gaT	p.D48D	RASSF2_ENST00000379376.2_Silent_p.D48D|RASSF2_ENST00000478553.1_5'Flank	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	48					bone remodeling (GO:0046849)|cell cycle (GO:0007049)|epidermal growth factor receptor signaling pathway via I-kappaB kinase/NF-kappaB cascade (GO:0038168)|homeostasis of number of cells (GO:0048872)|negative regulation of NIK/NF-kappaB signaling (GO:1901223)|ossification (GO:0001503)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						CAATGAACTCGTCTTCTTCCT	0.547																																					Melanoma(158;1891 3343 50738)	dbGAP											0													64.0	62.0	63.0					20																	4776604		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D79990	CCDS13083.1	20p13	2011-08-12	2008-02-22		ENSG00000101265	ENSG00000101265			9883	protein-coding gene	gene with protein product	"""centromere protein 34"""	609492				8724849, 15806169	Standard	NM_014737		Approved	KIAA0168, CENP-34	uc002wld.3	P50749	OTTHUMG00000031790	ENST00000379400.3:c.144C>T	20.37:g.4776604G>A			A6NIX9|A8K5Z3|Q17S06|Q53HD0|Q6AHZ2|Q8IZA5	Silent	SNP	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH	p.D48	ENST00000379400.3	37	c.144	CCDS13083.1	20																																																																																			RASSF2	-	NULL	ENSG00000101265		0.547	RASSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF2	HGNC	protein_coding	OTTHUMT00000077828.1	118	0.00	0	G	NM_014737		4776604	4776604	-1	no_errors	ENST00000379376	ensembl	human	known	69_37n	silent	72	18.18	16	SNP	0.938	A
SNX6	58533	genome.wustl.edu	37	14	35045013	35045013	+	Silent	SNP	G	G	C			TCGA-AO-A0JM-01A-21W-A071-09	TCGA-AO-A0JM-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f070142b-f44e-4264-8919-dde7d02ad835	e8905dd3-81d6-424c-8329-33aba5498151	g.chr14:35045013G>C	ENST00000362031.4	-	11	936	c.906C>G	c.(904-906)ctC>ctG	p.L302L	SNX6_ENST00000355110.5_Silent_p.L178L|SNX6_ENST00000396534.3_Silent_p.L174L|SNX6_ENST00000396526.3_Silent_p.L174L	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	sorting nexin 6	290					intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome membrane (GO:0031901)|intracellular (GO:0005622)|nucleus (GO:0005634)	phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		CAGAAAGTTTGAGGTCTTCAT	0.313																																						dbGAP											0													40.0	44.0	42.0					14																	35045013		2201	4296	6497	-	-	-	SO:0001819	synonymous_variant	0			AF121856	CCDS9648.1, CCDS41942.1	14q13	2010-08-05			ENSG00000129515	ENSG00000129515		"""Sorting nexins"""	14970	protein-coding gene	gene with protein product		606098				11279102	Standard	XM_006720224		Approved		uc001wsf.1	Q9UNH7	OTTHUMG00000140213	ENST00000362031.4:c.906C>G	14.37:g.35045013G>C			C0H5W9|Q9Y449	Silent	SNP	pfam_Phox,pfam_Vps5_C,pfam_BAR_dom,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox	p.L302	ENST00000362031.4	37	c.906	CCDS41942.1	14																																																																																			SNX6	-	pfam_Vps5_C,pfam_BAR_dom,pirsf_Snx5_Snx6	ENSG00000129515		0.313	SNX6-002	KNOWN	downstream_ATG|basic|appris_principal|CCDS	protein_coding	SNX6	HGNC	protein_coding	OTTHUMT00000276642.3	71	0.00	0	G			35045013	35045013	-1	no_errors	ENST00000362031	ensembl	human	known	69_37n	silent	23	55.77	29	SNP	1.000	C
SRCAP	10847	genome.wustl.edu	37	16	30718895	30718895	+	Silent	SNP	G	G	A			TCGA-AO-A0JM-01A-21W-A071-09	TCGA-AO-A0JM-10A-01W-A071-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f070142b-f44e-4264-8919-dde7d02ad835	e8905dd3-81d6-424c-8329-33aba5498151	g.chr16:30718895G>A	ENST00000262518.4	+	6	880	c.495G>A	c.(493-495)gtG>gtA	p.V165V	SRCAP_ENST00000344771.4_Silent_p.V165V|SNORA30_ENST00000384028.1_RNA|SRCAP_ENST00000395059.2_Silent_p.V165V	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	165	HSA. {ECO:0000255|PROSITE- ProRule:PRU00549}.				histone acetylation (GO:0016573)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			TCCCACAGGTGGTGCGCATGG	0.552																																						dbGAP											0													40.0	35.0	36.0					16																	30718895		2197	4300	6497	-	-	-	SO:0001819	synonymous_variant	0			AB002307	CCDS10689.2	16p11.2	2009-08-06			ENSG00000080603	ENSG00000080603			16974	protein-coding gene	gene with protein product	"""Swi2/Snf2-related ATPase homolog (S. cerevisiae)"", ""domino homolog 1 (Drosophila)"""	611421				10347196, 9205841	Standard	NM_006662		Approved	KIAA0309, EAF1, SWR1, DOMO1	uc002dze.1	Q6ZRS2	OTTHUMG00000132393	ENST00000262518.4:c.495G>A	16.37:g.30718895G>A			B0JZA6|O15026|Q7Z744|Q9Y5L9	Silent	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like	p.V165	ENST00000262518.4	37	c.495	CCDS10689.2	16																																																																																			SRCAP	-	pfam_HSA,smart_HAS_subgr,pfscan_Helicase/SANT-assoc_DNA-bd	ENSG00000080603		0.552	SRCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRCAP	HGNC	protein_coding	OTTHUMT00000255523.1	54	0.00	0	G	NM_006662		30718895	30718895	+1	no_errors	ENST00000262518	ensembl	human	known	69_37n	silent	37	26.00	13	SNP	0.980	A
SYNE2	23224	genome.wustl.edu	37	14	64428284	64428284	+	Missense_Mutation	SNP	T	T	A			TCGA-AO-A0JM-01A-21W-A071-09	TCGA-AO-A0JM-10A-01W-A071-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f070142b-f44e-4264-8919-dde7d02ad835	e8905dd3-81d6-424c-8329-33aba5498151	g.chr14:64428284T>A	ENST00000344113.4	+	9	1041	c.829T>A	c.(829-831)Tat>Aat	p.Y277N	SYNE2_ENST00000357395.3_De_novo_Start_OutOfFrame|SYNE2_ENST00000554584.1_Missense_Mutation_p.Y277N|SYNE2_ENST00000358025.3_Missense_Mutation_p.Y277N	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	277	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CATCATGACCTATGTGGCACA	0.393																																						dbGAP											0													162.0	147.0	152.0					14																	64428284		1965	4163	6128	-	-	-	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.829T>A	14.37:g.64428284T>A	ENSP00000341781:p.Tyr277Asn		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.Y277N	ENST00000344113.4	37	c.829	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	T	19.72	3.879515	0.72294	.	.	ENSG00000054654	ENST00000358025;ENST00000344113;ENST00000554584;ENST00000261678	D;D;D	0.97186	-4.28;-4.28;-4.28	5.97	5.97	0.96955	Calponin homology domain (5);	0.000000	0.49916	D	0.000134	D	0.99127	0.9699	H	0.98089	4.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.99084	1.0838	10	0.87932	D	0	.	16.4608	0.84044	0.0:0.0:0.0:1.0	.	277;277	Q8WXH0;Q8WXH0-2	SYNE2_HUMAN;.	N	277	ENSP00000350719:Y277N;ENSP00000341781:Y277N;ENSP00000452570:Y277N	ENSP00000261678:Y277N	Y	+	1	0	SYNE2	63498037	1.000000	0.71417	0.909000	0.35828	0.973000	0.67179	7.453000	0.80700	2.288000	0.76882	0.533000	0.62120	TAT	SYNE2	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000054654		0.393	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	72	0.00	0	T	NM_182914		64428284	64428284	+1	no_errors	ENST00000358025	ensembl	human	known	69_37n	missense	45	23.73	14	SNP	0.994	A
SRSF5	6430	genome.wustl.edu	37	14	70235927	70235927	+	Missense_Mutation	SNP	C	C	T			TCGA-AO-A0JM-01A-21W-A071-09	TCGA-AO-A0JM-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f070142b-f44e-4264-8919-dde7d02ad835	e8905dd3-81d6-424c-8329-33aba5498151	g.chr14:70235927C>T	ENST00000553521.1	+	6	1778	c.325C>T	c.(325-327)Cgt>Tgt	p.R109C	SRSF5_ENST00000557154.1_Missense_Mutation_p.R109C|SRSF5_ENST00000394366.2_Missense_Mutation_p.R109C|SRSF5_ENST00000451983.2_Missense_Mutation_p.R109C|SRSF5_ENST00000553635.1_Missense_Mutation_p.R106C|SRSF5_ENST00000554021.1_Missense_Mutation_p.R109C|SRSF5_ENST00000556587.1_3'UTR|SRSF5_ENST00000555349.1_Missense_Mutation_p.R109C			Q13243	SRSF5_HUMAN	serine/arginine-rich splicing factor 5	109	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of cell cycle (GO:0051726)|response to wounding (GO:0009611)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			large_intestine(1)|liver(1)	2						AACAGAAAATCGTCTTATAGT	0.363																																						dbGAP											0													69.0	70.0	69.0					14																	70235927		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF020307	CCDS32109.1	14q24	2013-02-12	2010-06-22	2010-06-22	ENSG00000100650	ENSG00000100650		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10787	protein-coding gene	gene with protein product	"""SR splicing factor 5"""	600914	"""splicing factor, arginine/serine-rich 5"""	SFRS5		7686911, 20516191	Standard	XM_005267998		Approved	SRP40, HRS	uc001xlp.3	Q13243		ENST00000553521.1:c.325C>T	14.37:g.70235927C>T	ENSP00000452123:p.Arg109Cys		O14797|Q16662|Q49AD6|Q6FGE0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R109C	ENST00000553521.1	37	c.325	CCDS32109.1	14	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239098	0.58995	.	.	ENSG00000100650	ENST00000553521;ENST00000394366;ENST00000553369;ENST00000557154;ENST00000451983;ENST00000553635;ENST00000555349;ENST00000554021	T;T;T;T;T;T;T;T	0.40476	3.29;3.29;1.03;3.29;1.03;3.29;1.03;1.03	5.52	4.61	0.57282	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.85682	D	0.000000	T	0.77170	0.4091	H	0.97682	4.055	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.83275	0.95;0.996	D	0.86430	0.1760	10	0.87932	D	0	.	16.2207	0.82257	0.0:0.8669:0.1331:0.0	.	106;109	Q13243-3;Q13243	.;SRSF5_HUMAN	C	109;109;109;109;109;106;109;109	ENSP00000452123:R109C;ENSP00000377892:R109C;ENSP00000452449:R109C;ENSP00000451088:R109C;ENSP00000402734:R109C;ENSP00000451391:R106C;ENSP00000452090:R109C;ENSP00000450918:R109C	ENSP00000377892:R109C	R	+	1	0	SRSF5	69305680	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.778000	0.62368	1.281000	0.44480	0.655000	0.94253	CGT	SRSF5	-	NULL	ENSG00000100650		0.363	SRSF5-003	NOVEL	basic|appris_principal|CCDS	protein_coding	SRSF5	HGNC	protein_coding	OTTHUMT00000412456.1	71	0.00	0	C	NM_001039465		70235927	70235927	+1	no_errors	ENST00000451983	ensembl	human	known	69_37n	missense	59	22.37	17	SNP	1.000	T
TFAP2A	7020	genome.wustl.edu	37	6	10398921	10398921	+	Missense_Mutation	SNP	A	A	C			TCGA-AO-A0JM-01A-21W-A071-09	TCGA-AO-A0JM-10A-01W-A071-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f070142b-f44e-4264-8919-dde7d02ad835	e8905dd3-81d6-424c-8329-33aba5498151	g.chr6:10398921A>C	ENST00000482890.1	-	8	1395	c.1043T>G	c.(1042-1044)tTc>tGc	p.F348C	TFAP2A_ENST00000379608.3_Missense_Mutation_p.F342C|TFAP2A_ENST00000379613.3_Missense_Mutation_p.F350C|TFAP2A_ENST00000497266.1_5'UTR|TFAP2A_ENST00000319516.4_Missense_Mutation_p.F344C|TFAP2A_ENST00000379604.2_Missense_Mutation_p.F348C			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	348	H-S-H (helix-span-helix), dimerization.				anterior neuropore closure (GO:0021506)|basement membrane organization (GO:0071711)|bone morphogenesis (GO:0060349)|cellular response to iron ion (GO:0071281)|cornea development in camera-type eye (GO:0061303)|embryonic body morphogenesis (GO:0010172)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|embryonic pattern specification (GO:0009880)|epidermis morphogenesis (GO:0048730)|eyelid development in camera-type eye (GO:0061029)|face morphogenesis (GO:0060325)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|keratinocyte development (GO:0003334)|kidney development (GO:0001822)|lens induction in camera-type eye (GO:0060235)|metanephric nephron development (GO:0072210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription by competitive promoter binding (GO:0010944)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural crest cell development (GO:0014032)|oculomotor nerve formation (GO:0021623)|optic cup structural organization (GO:0003409)|optic vesicle morphogenesis (GO:0003404)|outflow tract morphogenesis (GO:0003151)|palate development (GO:0060021)|positive regulation of bone mineralization (GO:0030501)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of tooth mineralization (GO:0070172)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell differentiation (GO:0045595)|regulation of neuron differentiation (GO:0045664)|retina layer formation (GO:0010842)|sensory perception of sound (GO:0007605)|sympathetic nervous system development (GO:0048485)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				CAGGTCGGTGAACTCTTTGCA	0.577																																						dbGAP											0													105.0	113.0	111.0					6																	10398921		2203	4300	6503	-	-	-	SO:0001583	missense	0			X52611	CCDS4510.1, CCDS34337.1, CCDS43422.1	6p24.3	2013-09-19	2001-11-28		ENSG00000137203	ENSG00000137203			11742	protein-coding gene	gene with protein product		107580	"""transcription factor AP-2 alpha (activating enhancer-binding protein 2 alpha)"""	TFAP2, AP2TF		1916817, 3063603	Standard	NM_001032280		Approved	AP-2	uc003myr.3	P05549	OTTHUMG00000014235	ENST00000482890.1:c.1043T>G	6.37:g.10398921A>C	ENSP00000418541:p.Phe348Cys		Q13777|Q5TAV5|Q8N1C6	Missense_Mutation	SNP	pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_alpha_N	p.F348C	ENST00000482890.1	37	c.1043	CCDS4510.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.8|26.8	4.772831|4.772831	0.90108|0.90108	.|.	.|.	ENSG00000137203|ENSG00000137203	ENST00000379613;ENST00000379604;ENST00000319516;ENST00000379608;ENST00000482890|ENST00000466073	D;D;D;D;D|D	0.97114|0.96913	-4.25;-4.25;-4.25;-4.25;-4.25|-4.17	5.7|5.7	5.7|5.7	0.88788|0.88788	Transcription factor AP-2, C-terminal (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.93749|0.93749	0.8002|0.8002	M|M	0.88105|0.88105	2.93|2.93	0.80722|0.80722	D|D	1|1	D;D;D|B	0.89917|0.32918	1.0;0.999;1.0|0.39	D;D;D|B	0.85130|0.29862	0.997;0.946;0.996|0.108	D|D	0.94222|0.94222	0.7468|0.7468	10|9	0.87932|0.09843	D|T	0|0.71	-12.0716|-12.0716	15.9756|15.9756	0.80060|0.80060	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	344;348;342|301	Q5TAV5;P05549;Q8N1C6|C1K3N0	.;AP2A_HUMAN;.|.	C|A	350;348;344;342;348|301	ENSP00000368933:F350C;ENSP00000368924:F348C;ENSP00000316516:F344C;ENSP00000368928:F342C;ENSP00000418541:F348C|ENSP00000417495:S301A	ENSP00000316516:F344C|ENSP00000417495:S301A	F|S	-|-	2|1	0|0	TFAP2A|TFAP2A	10506907|10506907	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.339000|9.339000	0.96797|0.96797	2.171000|2.171000	0.68590|0.68590	0.533000|0.533000	0.62120|0.62120	TTC|TCA	TFAP2A	-	pfam_TF_AP2_C	ENSG00000137203		0.577	TFAP2A-007	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	TFAP2A	HGNC	protein_coding	OTTHUMT00000353619.2	116	0.00	0	A	NM_003220		10398921	10398921	-1	no_errors	ENST00000379604	ensembl	human	known	69_37n	missense	131	13.25	20	SNP	1.000	C
DAW1	164781	genome.wustl.edu	37	2	228769656	228769656	+	Silent	SNP	C	C	T			TCGA-AO-A0JM-01A-21W-A071-09	TCGA-AO-A0JM-10A-01W-A071-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	f070142b-f44e-4264-8919-dde7d02ad835	e8905dd3-81d6-424c-8329-33aba5498151	g.chr2:228769656C>T	ENST00000309931.2	+	8	743	c.660C>T	c.(658-660)gcC>gcT	p.A220A	DAW1_ENST00000373666.2_Silent_p.A220A|DAW1_ENST00000545118.1_Silent_p.A205A	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	220						cilium (GO:0005929)											GACATTCTGCCGAAATCATCT	0.413																																						dbGAP											0													140.0	138.0	139.0					2																	228769656		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.660C>T	2.37:g.228769656C>T			Q6ZRY1|Q8N776	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.A220	ENST00000309931.2	37	c.660	CCDS2470.1	2																																																																																			WDR69	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000123977		0.413	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR69	HGNC	protein_coding	OTTHUMT00000331745.1	265	0.00	0	C	NM_178821		228769656	228769656	+1	no_errors	ENST00000309931	ensembl	human	known	69_37n	silent	129	20.25	33	SNP	0.886	T
