#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	G	G	A			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chrUnknown:0G>A								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								4559	SO:0001628	intergenic_variant	0																															Unknown.37:g.0G>A			4559		Nonsense_Mutation	SNP	HMMPfam_Oxidored_q1,HMMPfam_NADH_dehy_S2_C	p.W30*		37	c.89		MT																																																																																			-	HMMPfam_Oxidored_q1	0	0					MT-ND2			G			4559	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000361453	ensembl	human	known	54_36p	nonsense	SNP	NULL	A
Unknown	0	genome.wustl.edu	37	Unknown	0	0	+	IGR	SNP	C	C	T			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	C	C					Unknown	Invalid:failed_liftOver	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chrUnknown:0C>T								None (None upstream) : None (None downstream)																								0.0																																																0			MT																																								11629	SO:0001628	intergenic_variant	4538																															Unknown.37:g.0C>T			11629		Missense_Mutation	SNP	HMMPfam_Oxidored_q5_N,HMMPfam_Oxidored_q1	p.S290L		37	c.869		MT																																																																																			-	HMMPfam_Oxidored_q1	0	0					MT-ND4			C			11629	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000361381	ensembl	human	known	54_36p	missense	SNP	NULL	T
TMEM184A	202915	genome.wustl.edu	37	7	1590564	1590564	+	Missense_Mutation	SNP	G	G	A	rs201764681		TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr7:1590564G>A	ENST00000297477.5	-	3	590	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	92					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		AGGAGCAGGCGGATGATGTAA	0.627													G|||	1	0.000199681	0.0	0.0	5008	,	,		14761	0.001		0.0	False		,,,				2504	0.0															0			7							CYS/ARG	0,4406		0,0,2203	93.0	102.0	99.0		274	5.2	1.0	7		99	1,8599	1.2+/-3.3	0,1,4299	no	missense	TMEM184A	NM_001097620.1	180	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	92/414	1590564	1,13005	2203	4300	6503	1557090	SO:0001583	missense	202915				CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.274C>T	7.37:g.1590564G>A	ENSP00000297477:p.Arg92Cys		1557090	Q8TBQ6	Missense_Mutation	SNP	HMMPfam_DUF300	p.R92C	ENST00000297477.5	37	c.274	CCDS43537.1	7	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	19.13	3.767768	0.69878	0.0	1.16E-4	ENSG00000164855	ENST00000297477;ENST00000319010;ENST00000414730;ENST00000441933;ENST00000431208	T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54	5.15	5.15	0.70609	.	0.000000	0.85682	U	0.000000	D	0.83083	0.5177	H	0.97365	3.99	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.89578	0.3818	10	0.87932	D	0	-5.0589	18.6128	0.91293	0.0:0.0:1.0:0.0	.	92	Q6ZMB5	T184A_HUMAN	C	92	ENSP00000297477:R92C;ENSP00000325945:R92C;ENSP00000398382:R92C;ENSP00000389092:R92C;ENSP00000403499:R92C	ENSP00000297477:R92C	R	-	1	0	TMEM184A	1557090	1.000000	0.71417	1.000000	0.80357	0.743000	0.42351	9.650000	0.98490	2.396000	0.81511	0.407000	0.27541	CGC	-	HMMPfam_DUF300		0.627	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM184A	protein_coding	OTTHUMT00000239229.4	G	NM_152689		1557090	-1	no_errors	NM_001097620	genbank	human	validated	54_36p	missense	SNP	1.000	A
KREMEN2	79412	genome.wustl.edu	37	16	3015034	3015034	+	Splice_Site	SNP	G	G	T			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr16:3015034G>T	ENST00000303746.5	+	2	846	c.269G>T	c.(268-270)cGt>cTt	p.R90L	PKMYT1_ENST00000571102.1_5'Flank|KREMEN2_ENST00000571007.1_Splice_Site_p.R90L|KREMEN2_ENST00000572045.1_Splice_Site_p.R90L|KREMEN2_ENST00000319500.6_Splice_Site_p.R90L|KREMEN2_ENST00000575885.1_Splice_Site_p.R90L|KREMEN2_ENST00000575769.1_Splice_Site_p.R90L			Q8NCW0	KREM2_HUMAN	kringle containing transmembrane protein 2	90	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(1)|large_intestine(1)	4						AACTTCTGCCGGTGAGGGGCG	0.746																																																0			16											2.0	3.0	3.0					16																	3015034		1534	3289	4823	2955035	SO:0001630	splice_region_variant	79412			BC003533	CCDS10483.1, CCDS10484.1, CCDS58412.1, CCDS58413.1	16p13.11	2008-08-04			ENSG00000131650	ENSG00000131650			18797	protein-coding gene	gene with protein product		609899				12050670	Standard	NM_172229		Approved	MGC10791, KRM2	uc002csg.3	Q8NCW0	OTTHUMG00000128976	ENST00000303746.5:c.269+1G>T	16.37:g.3015034G>T			2955035	B4DXF6|I3L2S2|Q8N2J4|Q8NCW1|Q96GL8|Q9BTP9	Missense_Mutation	SNP	superfamily_Kringle-like,HMMSmart_SM00130,HMMPfam_Kringle,PatternScan_KRINGLE_1,HMMSmart_SM00321,HMMPfam_WSC,superfamily_Spermadhesin CUB domain,HMMPfam_CUB,HMMSmart_SM00042	p.R90L	ENST00000303746.5	37	c.269	CCDS10483.1	16	.	.	.	.	.	.	.	.	.	.	G	35	5.462513	0.96240	.	.	ENSG00000131650	ENST00000303746;ENST00000319500	D;D	0.93906	-3.31;-3.31	4.69	4.69	0.59074	Kringle (5);Kringle-like fold (1);Kringle, conserved site (1);	0.000000	0.44483	D	0.000459	D	0.98220	0.9411	H	0.99090	4.425	0.58432	D	0.999998	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.999;0.999;0.997;0.998;0.997;0.999	D	0.99577	1.0972	10	0.87932	D	0	.	15.1111	0.72359	0.0:0.0:1.0:0.0	.	90;90;90;90;90;90	B4DXF6;Q53F67;Q8NCW0-2;Q8NCW0-4;Q8NCW0-3;Q8NCW0	.;.;.;.;.;KREM2_HUMAN	L	90	ENSP00000304422:R90L;ENSP00000322079:R90L	ENSP00000304422:R90L	R	+	2	0	KREMEN2	2955035	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.479000	0.66813	2.142000	0.66516	0.561000	0.74099	CGT	-	superfamily_Kringle-like,HMMSmart_SM00130,HMMPfam_Kringle,PatternScan_KRINGLE_1		0.746	KREMEN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KREMEN2	protein_coding	OTTHUMT00000250964.2	G	NM_145347	Missense_Mutation	2955035	+1	no_errors	NM_172229	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
COPS7A	50813	genome.wustl.edu	37	12	6838451	6838451	+	Silent	SNP	G	G	A			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr12:6838451G>A	ENST00000543155.1	+	5	848	c.366G>A	c.(364-366)ctG>ctA	p.L122L	COPS7A_ENST00000534947.1_Silent_p.L122L|COPS7A_ENST00000538410.1_Silent_p.L122L|COPS7A_ENST00000229251.3_Silent_p.L122L|COPS7A_ENST00000534877.1_Silent_p.L122L|COPS7A_ENST00000542150.1_3'UTR|COPS7A_ENST00000539735.1_Silent_p.L122L	NM_001164094.1	NP_001157566.1	Q9UBW8	CSN7A_HUMAN	COP9 signalosome subunit 7A	122	PCI.				cullin deneddylation (GO:0010388)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						CTCTTGCCCTGCGTAATGTGC	0.577																																																0			12											187.0	149.0	162.0					12																	6838451		2203	4300	6503	6708712	SO:0001819	synonymous_variant	50813			AF193844	CCDS8558.1	12p13.31	2013-03-14	2013-03-14		ENSG00000111652	ENSG00000111652			16758	protein-coding gene	gene with protein product			"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 7A"", ""COP9 constitutive photomorphogenic homolog subunit 7A (Arabidopsis)"""				Standard	NM_001164093		Approved	CSN7A	uc001qqh.3	Q9UBW8	OTTHUMG00000169182	ENST00000543155.1:c.366G>A	12.37:g.6838451G>A			6708712	A8K9A6|Q9NVX3|Q9UJW4	Silent	SNP	HMMPfam_PCI,HMMSmart_SM00088	p.L122	ENST00000543155.1	37	c.366	CCDS8558.1	12																																																																																			-	HMMPfam_PCI,HMMSmart_SM00088		0.577	COPS7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPS7A	protein_coding	OTTHUMT00000402740.1	G			6708712	+1	no_errors	NM_016319	genbank	human	provisional	54_36p	silent	SNP	1.000	A
RREB1	6239	genome.wustl.edu	37	6	7230840	7230840	+	Silent	SNP	G	G	C			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr6:7230840G>C	ENST00000349384.6	+	10	2822	c.2508G>C	c.(2506-2508)gcG>gcC	p.A836A	RREB1_ENST00000379933.3_Silent_p.A836A|RREB1_ENST00000334984.6_Silent_p.A836A|RREB1_ENST00000379938.2_Silent_p.A836A	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	836					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCGCAGAGGCGCCGGCCGCTG	0.692																																																0			6											7.0	7.0	7.0					6																	7230840		1858	3589	5447	7175839	SO:0001819	synonymous_variant	6239			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.2508G>C	6.37:g.7230840G>C			7175839	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1,superfamily_SSF57667	p.A836	ENST00000349384.6	37	c.2508	CCDS34336.1	6																																																																																			-	NULL		0.692	RREB1-002	KNOWN	basic|CCDS	protein_coding	RREB1	protein_coding	OTTHUMT00000352985.1	G			7175839	+1	no_errors	NM_001003699	genbank	human	validated	54_36p	silent	SNP	0.000	C
TP53	7157	genome.wustl.edu	37	17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	rs11540652		TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr17:7577538C>T	ENST00000269305.4	-	7	932	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000420246.2_Missense_Mutation_p.R248Q|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Interacts with the 53BP2 SH3 domain.|Required for interaction with ZNF385A.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:7682763}.|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:2263646, ECO:0000269|PubMed:7682763, ECO:0000269|PubMed:7887414}.|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1978757, ECO:0000269|PubMed:8829627}.		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	725	Substitution - Missense(698)|Whole gene deletion(8)|Deletion - In frame(7)|Unknown(6)|Insertion - Frameshift(3)|Deletion - Frameshift(2)|Complex - compound substitution(1)	large_intestine(138)|breast(83)|haematopoietic_and_lymphoid_tissue(74)|lung(71)|upper_aerodigestive_tract(63)|central_nervous_system(46)|oesophagus(37)|urinary_tract(37)|ovary(36)|stomach(35)|endometrium(23)|skin(18)|prostate(11)|bone(10)|biliary_tract(9)|liver(9)|pancreas(7)|vulva(3)|kidney(3)|cervix(3)|peritoneum(2)|thyroid(2)|soft_tissue(1)|pituitary(1)|adrenal_gland(1)|small_intestine(1)|thymus(1)	17	GRCh37	CM920675	TP53	M	rs11540652	C	GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG,GLN/ARG	0,4406		0,0,2203	152.0	112.0	126.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	743,743,743,743,347,347,347	3.7	1.0	17	dbSNP_120	126	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense,missense,missense,missense,missense	TP53	NM_000546.4,NM_001126112.1,NM_001126113.1,NM_001126114.1,NM_001126115.1,NM_001126116.1,NM_001126117.1	43,43,43,43,43,43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	248/394,248/394,248/347,248/342,116/262,116/210,116/215	7577538	1,13005	2203	4300	6503	7518263	SO:0001583	missense	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.743G>A	17.37:g.7577538C>T	ENSP00000269305:p.Arg248Gln		7518263	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain	p.R248Q	ENST00000269305.4	37	c.743	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822907	0.90873	0.0	1.16E-4	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	D;D;D;D;D;D;D;D	0.99864	-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28;-7.28	4.62	3.65	0.41850	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99840	0.9927	M	0.88640	2.97	0.58432	A	0.999994	D;D;D;D;D;D	0.89917	1.0;0.994;1.0;1.0;1.0;1.0	D;P;D;D;D;D	0.91635	0.996;0.882;0.999;0.995;0.996;0.995	D	0.96819	0.9602	9	0.72032	D	0.01	-9.5643	10.6687	0.45745	0.0:0.9059:0.0:0.0941	rs11540652;rs11540652	248;248;155;248;248;248	P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;P53_HUMAN;.;.	Q	248;248;248;248;248;248;237;155;116;155	ENSP00000410739:R248Q;ENSP00000352610:R248Q;ENSP00000269305:R248Q;ENSP00000398846:R248Q;ENSP00000391127:R248Q;ENSP00000391478:R248Q;ENSP00000425104:R116Q;ENSP00000423862:R155Q	ENSP00000269305:R248Q	R	-	2	0	TP53	7518263	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	5.884000	0.69729	1.305000	0.44909	0.462000	0.41574	CGG	-	HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	protein_coding	OTTHUMT00000367397.1	C	NM_000546		7518263	-1	no_errors	NM_000546	genbank	human	reviewed	54_36p	missense	SNP	1.000	T
KLRC1	3821	genome.wustl.edu	37	12	10603159	10603159	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr12:10603159C>G	ENST00000359151.3	-	3	388	c.207G>C	c.(205-207)gaG>gaC	p.E69D	KLRC1_ENST00000536188.1_Missense_Mutation_p.E69D|KLRC1_ENST00000408006.3_Missense_Mutation_p.E69D|KLRC1_ENST00000544822.1_Missense_Mutation_p.E69D|KLRC1_ENST00000347831.5_Missense_Mutation_p.E69D	NM_002259.4	NP_002250	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	69					cell surface receptor signaling pathway (GO:0007166)|regulation of immune response (GO:0050776)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						CAATGAGCTTCTCTGGAGCTG	0.423																																																0			12											103.0	100.0	101.0					12																	10603159		2203	4300	6503	10494426	SO:0001583	missense	3821			U54782	CCDS8625.1, CCDS8626.1	12p13	2010-06-30			ENSG00000134545	ENSG00000134545		"""Killer cell lectin-like receptors"", ""CD molecules"""	6374	protein-coding gene	gene with protein product	"""NKG2-1/B activating NK receptor"""	161555		NKG2		9598306	Standard	NM_002259		Approved	NKG2-A, NKG2-B, CD159a	uc001qyl.3	P26715		ENST00000359151.3:c.207G>C	12.37:g.10603159C>G	ENSP00000352064:p.Glu69Asp		10494426		Missense_Mutation	SNP	superfamily_C-type lectin-like,HMMSmart_SM00034,HMMPfam_Lectin_C	p.E69D	ENST00000359151.3	37	c.207	CCDS8625.1	12	.	.	.	.	.	.	.	.	.	.	C	10.17	1.277216	0.23307	.	.	ENSG00000134545	ENST00000536188;ENST00000359151;ENST00000408006;ENST00000347831;ENST00000544822	T;T;T;T;T	0.09723	2.95;2.95;2.95;2.95;2.95	3.7	2.8	0.32819	.	0.392328	0.21993	N	0.066130	T	0.32376	0.0827	M	0.87456	2.885	0.26075	N	0.981164	D;D	0.69078	0.982;0.997	D;D	0.77557	0.939;0.99	T	0.06881	-1.0802	10	0.62326	D	0.03	.	7.3555	0.26717	0.0:0.8697:0.0:0.1303	.	69;69	P26715-2;P26715	.;NKG2A_HUMAN	D	69	ENSP00000441432:E69D;ENSP00000352064:E69D;ENSP00000385304:E69D;ENSP00000256965:E69D;ENSP00000438038:E69D	ENSP00000256965:E69D	E	-	3	2	KLRC1	10494426	0.001000	0.12720	0.839000	0.33178	0.034000	0.12701	-0.012000	0.12699	0.842000	0.35045	0.467000	0.42956	GAG	-	NULL		0.423	KLRC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KLRC1	protein_coding	OTTHUMT00000400115.1	C	NM_002259		10494426	-1	no_errors	NM_002259	genbank	human	reviewed	54_36p	missense	SNP	0.713	G
HERC2P3	283755	genome.wustl.edu	37	15	20643883	20643883	+	RNA	SNP	G	G	A	rs139661202	byFrequency	TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr15:20643883G>A	ENST00000428453.1	-	0	3576							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TGACACGTCCGCATGTCAGAG	0.498													.|||	7	0.00139776	0.0053	0.0	5008	,	,		15207	0.0		0.0	False		,,,				2504	0.0															0			15						G		14,4364		0,14,2175	89.0	75.0	80.0			1.8	1.0	15	dbSNP_134	80	0,8534		0,0,4267	no	intergenic				0,14,6442	AA,AG,GG		0.0,0.3198,0.1084			20643883	14,12898	2189	4267	6456	18903897			400322			AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20643883G>A			18903897		Missense_Mutation	SNP	HMMPfam_MIB_HERC2	p.R963W	ENST00000428453.1	37	c.2887		15																																																																																			-	NULL		0.498	HERC2P3-014	KNOWN	basic	processed_transcript	HERC2P2	pseudogene	OTTHUMT00000347772.2	G	NG_008269		18903897	-1	no_errors	ENST00000324413	ensembl	human	known	54_36p	missense	SNP	1.000	A
TEP1	7011	genome.wustl.edu	37	14	20844277	20844277	+	Missense_Mutation	SNP	C	C	T	rs201759110		TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr14:20844277C>T	ENST00000262715.5	-	42	6275	c.6235G>A	c.(6235-6237)Ggg>Agg	p.G2079R	TEP1_ENST00000556935.1_Missense_Mutation_p.G1971R|TEP1_ENST00000545983.1_Missense_Mutation_p.G417R	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	2079					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)	p.G2079R(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TCCCGGCCCCCGGTGGCCAGG	0.577													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17308	0.0		0.0	False		,,,				2504	0.0															1	Substitution - Missense(1)	endometrium(1)	14											74.0	84.0	81.0					14																	20844277		2203	4300	6503	19914117	SO:0001583	missense	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.6235G>A	14.37:g.20844277C>T	ENSP00000262715:p.Gly2079Arg		19914117	A0AUV9	Missense_Mutation	SNP	HMMPfam_TEP1_N,HMMPfam_TROVE,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_NACHT,HMMSmart_SM00320,superfamily_WD40 repeat-like,PatternScan_WD_REPEATS_1,HMMPfam_WD40	p.G2079R	ENST00000262715.5	37	c.6235	CCDS9548.1	14	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	24.1	4.492190	0.84962	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935;ENST00000545983	T;T;T	0.72051	-0.62;-0.62;-0.62	5.52	5.52	0.82312	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.052122	0.85682	D	0.000000	D	0.88228	0.6380	H	0.94183	3.505	0.42493	D	0.992902	D;D;D;D	0.89917	0.999;1.0;1.0;1.0	D;D;D;D	0.71184	0.943;0.953;0.968;0.972	D	0.91430	0.5165	10	0.87932	D	0	-16.7161	16.3566	0.83237	0.0:1.0:0.0:0.0	.	417;1971;1422;2079	B4E0B6;G3V5X7;G3V2A4;Q99973	.;.;.;TEP1_HUMAN	R	2079;2079;1971;417	ENSP00000262715:G2079R;ENSP00000452574:G1971R;ENSP00000438849:G417R	ENSP00000262715:G2079R	G	-	1	0	TEP1	19914117	0.917000	0.31117	0.966000	0.40874	0.970000	0.65996	3.936000	0.56568	2.590000	0.87494	0.563000	0.77884	GGG	-	superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40		0.577	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	protein_coding	OTTHUMT00000073563.2	C	NM_007110		19914117	-1	no_errors	NM_007110	genbank	human	reviewed	54_36p	missense	SNP	0.913	T
Unknown	0	genome.wustl.edu	37	16	20167340	20167340	+	IGR	SNP	T	T	C			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr16:20167340T>C								GPR139 (82101 upstream) : RP11-204E4.3 (52906 downstream)																							AATGAATCAGTGGAGCTTAGA	0.512																																																0			16																																								20074841	SO:0001628	intergenic_variant	0																															16.37:g.20167340T>C			20074841		RNA	SNP	-	NULL		37	NULL		16																																																																																			-	-	0	0.512					LOC100131046			T			20074841	+1	pseudogene	XR_037711	genbank	human	model	54_36p	rna	SNP	0.355	C
OXSM	54995	genome.wustl.edu	37	3	25835759	25835759	+	Missense_Mutation	SNP	A	A	G			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr3:25835759A>G	ENST00000280701.3	+	3	1253	c.1154A>G	c.(1153-1155)cAt>cGt	p.H385R	OXSM_ENST00000420173.2_Missense_Mutation_p.H302R	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	385					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GCAACAGGACATCTGCTGGGA	0.453																																																0			3											95.0	91.0	93.0					3																	25835759		2203	4300	6503	25810763	SO:0001583	missense	54995			BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"""beta-ketoacyl synthase"""	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.1154A>G	3.37:g.25835759A>G	ENSP00000280701:p.His385Arg		25810763		Missense_Mutation	SNP	superfamily_Thiolase-like,HMMPfam_ketoacyl-synt,PatternScan_B_KETOACYL_SYNTHASE,HMMPfam_Ketoacyl-synt_C	p.H385R	ENST00000280701.3	37	c.1154	CCDS2643.1	3	.	.	.	.	.	.	.	.	.	.	A	23.4	4.411013	0.83340	.	.	ENSG00000151093	ENST00000280701;ENST00000420173	.	.	.	5.52	5.52	0.82312	Beta-ketoacyl synthase, C-terminal (1);Thiolase-like, subgroup (1);Thiolase-like (1);	0.000000	0.85682	D	0.000000	D	0.87928	0.6301	H	0.97131	3.945	0.41880	D	0.990313	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92201	0.5768	9	0.87932	D	0	-15.295	15.6637	0.77209	1.0:0.0:0.0:0.0	.	302;385	Q9NWU1-2;Q9NWU1	.;OXSM_HUMAN	R	385;302	.	ENSP00000280701:H385R	H	+	2	0	OXSM	25810763	1.000000	0.71417	0.995000	0.50966	0.961000	0.63080	9.278000	0.95766	2.095000	0.63458	0.533000	0.62120	CAT	-	superfamily_Thiolase-like,HMMPfam_Ketoacyl-synt_C		0.453	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXSM	protein_coding	OTTHUMT00000252876.2	A	NM_017897		25810763	+1	no_errors	NM_017897	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
CLIC6	54102	genome.wustl.edu	37	21	36081021	36081021	+	Missense_Mutation	SNP	A	A	G	rs150066189		TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr21:36081021A>G	ENST00000360731.3	+	5	1688	c.1688A>G	c.(1687-1689)cAt>cGt	p.H563R	CLIC6_ENST00000349499.2_Missense_Mutation_p.H545R			Q96NY7	CLIC6_HUMAN	chloride intracellular channel 6	563	GST C-terminal.					chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	voltage-gated chloride channel activity (GO:0005247)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19						GGGACCCAACATCCCGAATCT	0.403													A|||	1	0.000199681	0.0008	0.0	5008	,	,		20409	0.0		0.0	False		,,,				2504	0.0															0			21						A	ARG/HIS	1,4405	2.1+/-5.4	0,1,2202	71.0	61.0	64.0		1634	4.8	0.8	21	dbSNP_134	64	0,8600		0,0,4300	no	missense	CLIC6	NM_053277.1	29	0,1,6502	GG,GA,AA		0.0,0.0227,0.0077	possibly-damaging	545/687	36081021	1,13005	2203	4300	6503	35002891	SO:0001583	missense	54102			AF426169	CCDS13638.1	21q22.12	2012-09-26			ENSG00000159212	ENSG00000159212		"""Ion channels / Chloride channels : Intracellular"""	2065	protein-coding gene	gene with protein product		615321		CLIC1L		10830953	Standard	NM_053277		Approved	CLIC5	uc002yuf.1	Q96NY7	OTTHUMG00000086237	ENST00000360731.3:c.1688A>G	21.37:g.36081021A>G	ENSP00000353959:p.His563Arg		35002891	A8K0U8|Q8IX31	Missense_Mutation	SNP	superfamily_Thioredoxin-like,superfamily_Glutathione S-transferase (GST) C-terminal domain	p.H545R	ENST00000360731.3	37	c.1634		21	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	A	16.16	3.043858	0.55110	2.27E-4	0.0	ENSG00000159212	ENST00000360731;ENST00000349499	D;D	0.93604	-3.25;-3.25	4.77	4.77	0.60923	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96873	0.8979	M	0.87682	2.9	0.54753	D	0.999989	D;D	0.76494	0.999;0.999	D;D	0.85130	0.992;0.997	D	0.97631	1.0142	10	0.87932	D	0	-1.0608	14.744	0.69477	1.0:0.0:0.0:0.0	.	563;545	Q96NY7;Q96NY7-2	CLIC6_HUMAN;.	R	563;545	ENSP00000353959:H563R;ENSP00000290332:H545R	ENSP00000290332:H545R	H	+	2	0	CLIC6	35002891	1.000000	0.71417	0.827000	0.32855	0.002000	0.02628	9.047000	0.93823	2.128000	0.65567	0.533000	0.62120	CAT	-	superfamily_Glutathione S-transferase (GST) C-terminal domain		0.403	CLIC6-001	KNOWN	basic|appris_candidate_longest	protein_coding	CLIC6	protein_coding	OTTHUMT00000194156.1	A			35002891	+1	no_errors	NM_053277	genbank	human	reviewed	54_36p	missense	SNP	0.998	G
ABCD2	225	genome.wustl.edu	37	12	39994461	39994461	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr12:39994461G>A	ENST00000308666.3	-	6	1693	c.1558C>T	c.(1558-1560)Ctc>Ttc	p.L520F		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	520	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				fatty acid beta-oxidation (GO:0006635)|positive regulation of fatty acid beta-oxidation (GO:0032000)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)|very long-chain fatty acid metabolic process (GO:0000038)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						ATTCTGAAGAGAGAACTTTTC	0.363																																																0			12											79.0	87.0	84.0					12																	39994461		2203	4300	6503	38280728	SO:0001583	missense	225			U28150	CCDS8734.1	12q12	2012-05-16			ENSG00000173208	ENSG00000173208		"""ATP binding cassette transporters / subfamily D"""	66	protein-coding gene	gene with protein product		601081		ALDL1		8577752	Standard	NM_005164		Approved	ALDR, ALDRP	uc001rmb.2	Q9UBJ2	OTTHUMG00000169337	ENST00000308666.3:c.1558C>T	12.37:g.39994461G>A	ENSP00000310688:p.Leu520Phe		38280728	B2RAM3|Q13210|Q2M3H9	Missense_Mutation	SNP	HMMPfam_ABC_membrane_2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran,PatternScan_ABC_TRANSPORTER_1	p.L520F	ENST00000308666.3	37	c.1558	CCDS8734.1	12	.	.	.	.	.	.	.	.	.	.	G	29.6	5.019627	0.93462	.	.	ENSG00000173208	ENST00000308666	D	0.97016	-4.21	5.64	5.64	0.86602	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	D	0.97623	0.9221	L	0.60067	1.865	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97214	0.9873	9	.	.	.	-25.9989	19.712	0.96099	0.0:0.0:1.0:0.0	.	520	Q9UBJ2	ABCD2_HUMAN	F	520	ENSP00000310688:L520F	.	L	-	1	0	ABCD2	38280728	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.847000	0.86896	2.656000	0.90262	0.460000	0.39030	CTC	-	superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_ABC_tran		0.363	ABCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD2	protein_coding	OTTHUMT00000403591.1	G	NM_005164		38280728	-1	no_errors	NM_005164	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
GFAP	2670	genome.wustl.edu	37	17	42992478	42992478	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr17:42992478C>T	ENST00000253408.5	-	1	442	c.377G>A	c.(376-378)cGg>cAg	p.R126Q	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000435360.2_Missense_Mutation_p.R126Q|GFAP_ENST00000586793.1_Missense_Mutation_p.R126Q	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	126	Coil 1B.|Rod.				astrocyte development (GO:0014002)|Bergmann glial cell differentiation (GO:0060020)|extracellular matrix organization (GO:0030198)|intermediate filament organization (GO:0045109)|long-term synaptic potentiation (GO:0060291)|negative regulation of neuron projection development (GO:0010977)|neuron projection regeneration (GO:0031102)|positive regulation of Schwann cell proliferation (GO:0010625)|regulation of neurotransmitter uptake (GO:0051580)|response to wounding (GO:0009611)	astrocyte projection (GO:0097449)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament (GO:0005882)|membrane (GO:0016020)	structural constituent of cytoskeleton (GO:0005200)			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TTGATCGAGCCGCAGCCGCAG	0.642																																																0			17											38.0	38.0	38.0					17																	42992478		2203	4300	6503	40348004	SO:0001583	missense	2670			S40719	CCDS11491.1, CCDS45708.1, CCDS59296.1	17q21	2013-01-16						"""Intermediate filaments type III"""	4235	protein-coding gene	gene with protein product	"""intermediate filament protein"""	137780				9693047	Standard	NM_002055		Approved	FLJ45472	uc002ihq.3	P14136		ENST00000253408.5:c.377G>A	17.37:g.42992478C>T	ENSP00000253408:p.Arg126Gln		40348004	B2RD44|D3DX59|E9PAX3|Q53H98|Q5D055|Q6ZQS3|Q7Z5J6|Q7Z5J7|Q96KS4|Q96P18|Q9UFD0	Missense_Mutation	SNP	HMMPfam_Filament_head,HMMPfam_Filament,PatternScan_IF	p.R126Q	ENST00000253408.5	37	c.377	CCDS11491.1	17	.	.	.	.	.	.	.	.	.	.	C	1.104	-0.660170	0.03454	.	.	ENSG00000131095	ENST00000253408;ENST00000421021;ENST00000435360;ENST00000376990	D;D;D	0.87334	-2.24;-2.24;-2.24	4.58	2.58	0.30949	Filament (1);	0.300687	0.32918	N	0.005483	T	0.48259	0.1490	N	0.00107	-2.115	0.36989	D	0.894715	B;B	0.24882	0.113;0.004	B;B	0.15484	0.013;0.003	T	0.61964	-0.6954	10	0.02654	T	1	.	6.8944	0.24247	0.0:0.6226:0.0:0.3774	.	126;126	E9PAX3;P14136	.;GFAP_HUMAN	Q	126;101;126;126	ENSP00000253408:R126Q;ENSP00000403962:R126Q;ENSP00000366189:R126Q	ENSP00000253408:R126Q	R	-	2	0	GFAP	40348004	1.000000	0.71417	0.995000	0.50966	0.217000	0.24651	2.649000	0.46656	1.286000	0.44565	0.462000	0.41574	CGG	-	HMMPfam_Filament		0.642	GFAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFAP	protein_coding	OTTHUMT00000448701.1	C	NM_002055		40348004	-1	no_errors	NM_002055	genbank	human	reviewed	54_36p	missense	SNP	0.697	T
SUMO3	6612	genome.wustl.edu	37	21	46233960	46233960	+	Silent	SNP	G	G	T			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr21:46233960G>T	ENST00000397898.3	-	2	163	c.81C>A	c.(79-81)tcC>tcA	p.S27S	SUMO3_ENST00000332859.6_Silent_p.S27S|SUMO3_ENST00000479153.1_5'UTR|SUMO3_ENST00000411651.2_Silent_p.S27S|SUMO3_ENST00000397893.3_Silent_p.S27S					small ubiquitin-like modifier 3											prostate(1)	1				Colorectal(79;0.058)		ACTGCACCACGGAGCCGTCCT	0.597																																																0			21											192.0	174.0	180.0					21																	46233960		2203	4300	6503	45058388	SO:0001819	synonymous_variant	6612				CCDS33587.1, CCDS68220.1	21q22.3	2013-06-05	2013-06-05	2004-05-19	ENSG00000184900	ENSG00000184900			11124	protein-coding gene	gene with protein product		602231	"""SMT3 (suppressor of mif two 3, yeast) homolog 1"", ""SMT3 suppressor of mif two 3 homolog 3 (yeast)"", ""SMT3 suppressor of mif two 3 homolog 3 (S. cerevisiae)"""	SMT3H1		9119407	Standard	NM_006936		Approved	SMT3A	uc002zfz.1	P55854	OTTHUMG00000090256	ENST00000397898.3:c.81C>A	21.37:g.46233960G>T			45058388		Silent	SNP	superfamily_Ubiquitin-like,HMMSmart_SM00213,HMMPfam_ubiquitin	p.S27	ENST00000397898.3	37	c.81		21																																																																																			-	superfamily_Ubiquitin-like,HMMSmart_SM00213,HMMPfam_ubiquitin		0.597	SUMO3-002	NOVEL	basic|exp_conf	protein_coding	SUMO3	protein_coding	OTTHUMT00000206561.1	G			45058388	-1	no_errors	NM_006936	genbank	human	validated	54_36p	silent	SNP	0.558	T
PANX2	56666	genome.wustl.edu	37	22	50617477	50617477	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr22:50617477C>T	ENST00000395842.2	+	3	1805	c.1805C>T	c.(1804-1806)cCt>cTt	p.P602L	PANX2_ENST00000159647.5_Missense_Mutation_p.P602L	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	602					ion transport (GO:0006811)|protein hexamerization (GO:0034214)|response to ischemia (GO:0002931)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gap junction hemi-channel activity (GO:0055077)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GCTGTGGCCCCTCTGACACCA	0.697																																																0			22											24.0	23.0	23.0					22																	50617477		2187	4295	6482	48959604	SO:0001583	missense	56666				CCDS14085.2, CCDS54544.1	22q13.33	2011-12-05			ENSG00000073150	ENSG00000073150		"""Ion channels / Pannexins"""	8600	protein-coding gene	gene with protein product		608421				14702039, 14597722	Standard	NM_052839		Approved	hPANX2, PX2	uc003bjn.4	Q96RD6	OTTHUMG00000044649	ENST00000395842.2:c.1805C>T	22.37:g.50617477C>T	ENSP00000379183:p.Pro602Leu		48959604	B7Z684|Q96RD5|Q9UGX8	Missense_Mutation	SNP	NULL	p.P592L	ENST00000395842.2	37	c.1775	CCDS14085.2	22	.	.	.	.	.	.	.	.	.	.	C	10.31	1.315072	0.23908	.	.	ENSG00000073150	ENST00000159647;ENST00000395842;ENST00000401643	T;T	0.23348	1.92;1.91	3.72	2.66	0.31614	.	0.664997	0.13437	N	0.387990	T	0.15652	0.0377	N	0.19112	0.55	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17837	-1.0356	10	0.49607	T	0.09	-0.2941	7.5061	0.27545	0.1667:0.7427:0.0:0.0906	.	602;602	Q96RD6-1;Q96RD6	.;PANX2_HUMAN	L	602;602;279	ENSP00000159647:P602L;ENSP00000379183:P602L	ENSP00000159647:P602L	P	+	2	0	PANX2	48959604	0.887000	0.30362	0.109000	0.21407	0.466000	0.32739	4.034000	0.57289	0.872000	0.35775	0.313000	0.20887	CCT	-	NULL		0.697	PANX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PANX2	protein_coding	OTTHUMT00000075010.3	C	NM_052839		48959604	+1	no_errors	NM_052839	genbank	human	reviewed	54_36p	missense	SNP	0.000	T
APEH	327	genome.wustl.edu	37	3	49713594	49713594	+	Missense_Mutation	SNP	A	A	T			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr3:49713594A>T	ENST00000296456.5	+	6	948	c.548A>T	c.(547-549)gAc>gTc	p.D183V	APEH_ENST00000438011.1_Missense_Mutation_p.D183V	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	183					beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		AAAGCCTTGGACGTCAGTGCC	0.582																																																0			3											57.0	57.0	57.0					3																	49713594		2203	4300	6503	49688598	SO:0001583	missense	327			D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882	ENST00000296456.5:c.548A>T	3.37:g.49713594A>T	ENSP00000296456:p.Asp183Val		49688598	Q9BQ33|Q9P0Y2	Missense_Mutation	SNP	superfamily_Peptidase_S9A_N,superfamily_SSF53474,HMMPfam_Peptidase_S9,PatternScan_PRO_ENDOPEP_SER	p.D183V	ENST00000296456.5	37	c.548	CCDS2801.1	3	.	.	.	.	.	.	.	.	.	.	A	12.53	1.966768	0.34659	.	.	ENSG00000164062	ENST00000296456;ENST00000449966;ENST00000442186;ENST00000438011;ENST00000457042	T;T;T	0.52983	0.86;0.87;0.64	5.03	5.03	0.67393	Peptidase S9A/B/C, oligopeptidase, N-terminal beta-propeller (1);	0.100179	0.64402	D	0.000003	T	0.28665	0.0710	N	0.14661	0.345	0.47737	D	0.9995	B;B	0.25563	0.129;0.027	B;B	0.23275	0.045;0.03	T	0.11397	-1.0589	10	0.42905	T	0.14	-16.3055	8.3533	0.32316	0.8453:0.0:0.1547:0.0	.	183;183	C9JIF9;P13798	.;ACPH_HUMAN	V	183;82;108;183;180	ENSP00000296456:D183V;ENSP00000415862:D183V;ENSP00000410366:D180V	ENSP00000296456:D183V	D	+	2	0	APEH	49688598	1.000000	0.71417	0.827000	0.32855	0.925000	0.55904	4.138000	0.58017	1.894000	0.54839	0.482000	0.46254	GAC	-	superfamily_Peptidase_S9A_N		0.582	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APEH	protein_coding	OTTHUMT00000346415.2	A			49688598	+1	no_errors	NM_001640	genbank	human	reviewed	54_36p	missense	SNP	0.787	T
PARP8	79668	genome.wustl.edu	37	5	50073958	50073958	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr5:50073958C>G	ENST00000281631.5	+	8	732	c.574C>G	c.(574-576)Ctt>Gtt	p.L192V	PARP8_ENST00000503750.2_Missense_Mutation_p.L192V|PARP8_ENST00000514342.2_5'UTR|PARP8_ENST00000505697.2_Missense_Mutation_p.L192V|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Missense_Mutation_p.L192V|PARP8_ENST00000505554.1_Missense_Mutation_p.L171V	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	192						intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TGTTAGCTTTCTTGATGTAAG	0.259																																																0			5											100.0	99.0	99.0					5																	50073958		2202	4294	6496	50109715	SO:0001583	missense	79668			AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.574C>G	5.37:g.50073958C>G	ENSP00000281631:p.Leu192Val		50109715	Q3KRB7|Q6DHZ1|Q9H754	Missense_Mutation	SNP	superfamily_ADP-ribosylation,HMMPfam_PARP	p.L192V	ENST00000281631.5	37	c.574	CCDS3954.1	5	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920245	0.73098	.	.	ENSG00000151883	ENST00000505697;ENST00000503750;ENST00000281631;ENST00000514067;ENST00000505554	.	.	.	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000002	T	0.72843	0.3511	L	0.46157	1.445	0.80722	D	1	P;D;P	0.56035	0.956;0.974;0.956	D;D;D	0.67725	0.931;0.953;0.931	T	0.69749	-0.5061	8	.	.	.	-15.8092	17.0861	0.86611	0.0:1.0:0.0:0.0	.	84;192;192	B4DQ81;Q8N3A8-2;Q8N3A8	.;.;PARP8_HUMAN	V	192;192;192;192;171	.	.	L	+	1	0	PARP8	50109715	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.127000	0.50484	2.716000	0.92895	0.650000	0.86243	CTT	-	NULL		0.259	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP8	protein_coding	OTTHUMT00000214035.3	C	NM_024615		50109715	+1	no_errors	NM_024615	genbank	human	provisional	54_36p	missense	SNP	1.000	G
HNRNPA1L2	144983	genome.wustl.edu	37	13	53217390	53217390	+	Nonsense_Mutation	SNP	G	G	T			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr13:53217390G>T	ENST00000357495.2	+	1	823	c.763G>T	c.(763-765)Gga>Tga	p.G255*	HNRNPA1L2_ENST00000398039.1_Nonsense_Mutation_p.G255*|HNRNPA1L2_ENST00000342657.3_Nonsense_Mutation_p.G255*			Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2	255	Gly-rich.				alternative mRNA splicing, via spliceosome (GO:0000380)|mRNA transport (GO:0051028)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			cervix(1)|large_intestine(1)|lung(5)	7						aagcaattttggaggtggtgg	0.478																																																0			13											18.0	19.0	19.0					13																	53217390		1733	3268	5001	52115391	SO:0001587	stop_gained	144983				CCDS31980.1	13q14.3	2013-02-12			ENSG00000139675	ENSG00000139675		"""RNA binding motif (RRM) containing"""	27067	protein-coding gene	gene with protein product						12477932	Standard	NM_001011724		Approved	LOC144983	uc001vgy.1	Q32P51	OTTHUMG00000016972	ENST00000357495.2:c.763G>T	13.37:g.53217390G>T	ENSP00000350090:p.Gly255*		52115391	Q5TBS2	Nonsense_Mutation	SNP	superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1	p.G255*	ENST00000357495.2	37	c.763	CCDS31980.1	13	.	.	.	.	.	.	.	.	.	.	g	14.98	2.698468	0.48307	.	.	ENSG00000139675	ENST00000342657;ENST00000398039;ENST00000357495	.	.	.	0.352	0.352	0.16051	.	0.171187	0.22115	U	0.064432	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	6.5752	0.22562	2.0E-4:0.0:0.9998:0.0	.	.	.	.	X	255	.	ENSP00000341285:G255X	G	+	1	0	HNRNPA1L2	52115391	0.997000	0.39634	0.900000	0.35374	0.384000	0.30261	2.075000	0.41538	0.455000	0.26910	0.089000	0.15464	GGA	-	NULL		0.478	HNRNPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPA1L2	protein_coding	OTTHUMT00000045098.1	G	NM_001011724		52115391	+1	no_errors	NM_001011724	genbank	human	validated	54_36p	nonsense	SNP	0.013	T
GSTA4	2941	genome.wustl.edu	37	6	52843335	52843335	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr6:52843335C>A	ENST00000370959.1	-	7	719	c.602G>T	c.(601-603)gGc>gTc	p.G201V	GSTA4_ENST00000486559.1_5'UTR|GSTA4_ENST00000541324.1_Missense_Mutation_p.G108V|GSTA4_ENST00000370960.1_Missense_Mutation_p.G108V|Y_RNA_ENST00000516297.1_RNA			O15217	GSTA4_HUMAN	glutathione S-transferase alpha 4	201	GST C-terminal.				glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)			endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	CTTCTTGCTGCCAGGTTCAAG	0.378																																																0			6											155.0	141.0	146.0					6																	52843335		2203	4300	6503	52951294	SO:0001583	missense	2941			AF020918	CCDS4948.1	6p12.2	2012-06-21	2008-11-26		ENSG00000170899	ENSG00000170899	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4629	protein-coding gene	gene with protein product		605450	"""glutathione S-transferase A4"""			9480897	Standard	NM_001512		Approved		uc003pbf.3	O15217	OTTHUMG00000014868	ENST00000370959.1:c.602G>T	6.37:g.52843335C>A	ENSP00000359998:p.Gly201Val		52951294	B2RD15|Q5T7Q8|Q6P4G1|Q9BX18|Q9H414	Missense_Mutation	SNP	superfamily_Thioredoxin-like,HMMPfam_GST_N,superfamily_Glutathione S-transferase (GST) C-terminal domain,HMMPfam_GST_C	p.G201V	ENST00000370959.1	37	c.602	CCDS4948.1	6	.	.	.	.	.	.	.	.	.	.	C	27.0	4.786677	0.90367	.	.	ENSG00000170899	ENST00000370963;ENST00000541324;ENST00000370960;ENST00000370959	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.49	5.49	0.81192	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.096519	0.64402	D	0.000001	T	0.60353	0.2262	M	0.89968	3.075	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.68213	-0.5468	10	0.87932	D	0	-24.8963	19.343	0.94352	0.0:1.0:0.0:0.0	.	201	O15217	GSTA4_HUMAN	V	201;108;108;201	ENSP00000360002:G201V;ENSP00000439439:G108V;ENSP00000359999:G108V;ENSP00000359998:G201V	ENSP00000359998:G201V	G	-	2	0	GSTA4	52951294	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.568000	0.67385	2.741000	0.93983	0.650000	0.86243	GGC	-	superfamily_Glutathione S-transferase (GST) C-terminal domain		0.378	GSTA4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTA4	protein_coding	OTTHUMT00000040946.1	C	NM_001512		52951294	-1	no_errors	NM_001512	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
CTCFL	140690	genome.wustl.edu	37	20	56083841	56083841	+	Missense_Mutation	SNP	G	G	A			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr20:56083841G>A	ENST00000608263.1	-	8	2156	c.1495C>T	c.(1495-1497)Cgt>Tgt	p.R499C	CTCFL_ENST00000433949.3_Missense_Mutation_p.R294C|CTCFL_ENST00000423479.3_Missense_Mutation_p.R499C|CTCFL_ENST00000502686.2_Missense_Mutation_p.R237C|CTCFL_ENST00000608440.1_Missense_Mutation_p.R499C|CTCFL_ENST00000608425.1_Missense_Mutation_p.R499C|CTCFL_ENST00000429804.3_Missense_Mutation_p.R449C|CTCFL_ENST00000422869.2_Missense_Mutation_p.R499C|CTCFL_ENST00000432255.2_Missense_Mutation_p.R355C|CTCFL_ENST00000371196.2_Missense_Mutation_p.R499C|CTCFL_ENST00000243914.3_Missense_Mutation_p.R499C|CTCFL_ENST00000539382.1_Missense_Mutation_p.R294C|CTCFL_ENST00000609232.1_Missense_Mutation_p.R499C|CTCFL_ENST00000608903.1_Missense_Mutation_p.R237C	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	499					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GTCATATGACGTTCCTAAGAG	0.428																																																0			20											104.0	92.0	96.0					20																	56083841		2203	4300	6503	55517247	SO:0001583	missense	140690				CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1495C>T	20.37:g.56083841G>A	ENSP00000476783:p.Arg499Cys		55517247	A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Missense_Mutation	SNP	HMMPfam_zf-C2H2,HMMSmart_SM00355,superfamily_C2H2 and C2HC zinc fingers,PatternScan_ZINC_FINGER_C2H2_1	p.R499C	ENST00000608263.1	37	c.1495	CCDS13459.1	20	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002101	0.74932	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000502686;ENST00000432255;ENST00000539382;ENST00000422869	T;T;T;T;T;T;T;T;T	0.60797	0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16;0.16	5.39	2.19	0.27852	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.39407	N	0.001369	T	0.49457	0.1558	N	0.25332	0.735	0.80722	D	1	P;P;P;D;D;P;P	0.67145	0.953;0.84;0.655;0.996;0.996;0.84;0.84	B;B;B;P;P;B;B	0.52159	0.348;0.116;0.076;0.691;0.691;0.116;0.07	T	0.45906	-0.9229	10	0.49607	T	0.09	-18.417	7.9527	0.30025	0.1492:0.0:0.7209:0.1299	.	499;355;499;449;499;499;499	A6XGM9;A6XGM8;A6XGM2;E7EUE3;A1L4C6;A6XGL8;Q8NI51	.;.;.;.;.;.;CTCFL_HUMAN	C	499;499;499;449;499;237;355;294;499	ENSP00000415579:R499C;ENSP00000243914:R499C;ENSP00000360239:R499C;ENSP00000415329:R449C;ENSP00000392034:R499C;ENSP00000437999:R237C;ENSP00000409344:R355C;ENSP00000439998:R294C;ENSP00000399061:R499C	ENSP00000243914:R499C	R	-	1	0	CTCFL	55517247	1.000000	0.71417	0.027000	0.17364	0.013000	0.08279	6.194000	0.72082	0.752000	0.32923	0.655000	0.94253	CGT	-	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1		0.428	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	CTCFL	protein_coding	OTTHUMT00000472040.1	G	NM_080618		55517247	-1	no_errors	NM_080618	genbank	human	reviewed	54_36p	missense	SNP	1.000	A
ZNF468	90333	genome.wustl.edu	37	19	53344477	53344477	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr19:53344477C>G	ENST00000595646.1	-	4	1190	c.1070G>C	c.(1069-1071)tGt>tCt	p.C357S	ZNF468_ENST00000243639.4_3'UTR|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000390651.4_Missense_Mutation_p.C304S|ZNF468_ENST00000396409.4_Missense_Mutation_p.C304S			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	357					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		ACATTCATTACATGTGTAAGG	0.373																																																0			19											110.0	112.0	111.0					19																	53344477		2203	4300	6503	58036289	SO:0001583	missense	90333			AK023558	CCDS33094.1, CCDS62781.1	19q13.41	2013-01-08				ENSG00000204604		"""Zinc fingers, C2H2-type"", ""-"""	33105	protein-coding gene	gene with protein product						16144304	Standard	NM_001277120		Approved		uc002qaf.3	Q5VIY5		ENST00000595646.1:c.1070G>C	19.37:g.53344477C>G	ENSP00000470381:p.Cys357Ser		58036289	A8MV20|Q5CZB8|Q5VIY4|Q68DI7	Missense_Mutation	SNP	superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,HMMPfam_zf-C2H2	p.C357S	ENST00000595646.1	37	c.1070	CCDS33094.1	19	.	.	.	.	.	.	.	.	.	.	-	16.18	3.051166	0.55218	.	.	ENSG00000204604	ENST00000243639;ENST00000396409;ENST00000390651;ENST00000393865	D;D	0.85171	-1.95;-1.95	1.92	1.92	0.25849	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.93795	0.8016	H	0.95187	3.635	0.30543	N	0.766244	D	0.89917	1.0	D	0.91635	0.999	D	0.89612	0.3842	9	0.87932	D	0	.	10.8221	0.46610	0.0:1.0:0.0:0.0	.	357	Q5VIY5	ZN468_HUMAN	S	357;304;304;107	ENSP00000379690:C304S;ENSP00000445669:C304S	ENSP00000243639:C357S	C	-	2	0	ZNF468	58036289	0.999000	0.42202	0.495000	0.27527	0.865000	0.49528	6.098000	0.71458	1.048000	0.40298	0.416000	0.27883	TGT	-	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1		0.373	ZNF468-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF468	protein_coding	OTTHUMT00000463098.1	C	NM_001008801		58036289	-1	no_errors	NM_001008801	genbank	human	validated	54_36p	missense	SNP	0.536	G
GUSB	2990	genome.wustl.edu	37	7	65447157	65447157	+	Missense_Mutation	SNP	G	G	C	rs535382125		TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr7:65447157G>C	ENST00000304895.4	-	1	144	c.14C>G	c.(13-15)tCg>tGg	p.S5W	GUSB_ENST00000345660.6_Missense_Mutation_p.S5W|GUSB_ENST00000476486.1_5'Flank|GUSB_ENST00000421103.1_Missense_Mutation_p.S5W	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	5					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	beta-glucuronidase activity (GO:0004566)			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						GGCAACCGCCGACCCCCGGGC	0.756																																																0			7											3.0	4.0	4.0					7																	65447157		1692	3490	5182	65084592	SO:0001583	missense	2990			M15182	CCDS5530.1, CCDS64665.1	7q11.21	2012-10-02			ENSG00000169919	ENSG00000169919	3.2.1.31		4696	protein-coding gene	gene with protein product		611499				3468507	Standard	NM_000181		Approved		uc003tun.3	P08236	OTTHUMG00000023735	ENST00000304895.4:c.14C>G	7.37:g.65447157G>C	ENSP00000302728:p.Ser5Trp		65084592	B4E1F6|E9PCV0|Q549U0|Q96CL9	Missense_Mutation	SNP	superfamily_Galactose-binding domain-like,HMMPfam_Glyco_hydro_2_N,HMMPfam_Glyco_hydro_2,superfamily_beta-Galactosidase/glucuronidase domain,HMMPfam_Glyco_hydro_2_C,superfamily_(Trans)glycosidases,PatternScan_GLYCOSYL_HYDROL_F2_1,PatternScan_GLYCOSYL_HYDROL_F2_2	p.S5W	ENST00000304895.4	37	c.14	CCDS5530.1	7	.	.	.	.	.	.	.	.	.	.	G	14.70	2.613542	0.46631	.	.	ENSG00000169919	ENST00000304895;ENST00000421103;ENST00000345660	D;D;D	0.95788	-3.81;-3.7;-3.62	4.35	-3.96	0.04106	.	2.564990	0.01354	N	0.011998	D	0.91219	0.7233	L	0.40543	1.245	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.80061	-0.1540	10	0.37606	T	0.19	.	5.5809	0.17248	0.4052:0.2508:0.344:0.0	.	5;5	E9PCV0;P08236	.;BGLR_HUMAN	W	5	ENSP00000302728:S5W;ENSP00000391390:S5W;ENSP00000340734:S5W	ENSP00000302728:S5W	S	-	2	0	GUSB	65084592	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-3.100000	0.00604	-0.790000	0.04492	-1.088000	0.02184	TCG	-	NULL		0.756	GUSB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUSB	protein_coding	OTTHUMT00000251637.3	G	NM_000181		65084592	-1	no_errors	NM_000181	genbank	human	validated	54_36p	missense	SNP	0.000	C
SKOR1	390598	genome.wustl.edu	37	15	68118526	68118526	+	Silent	SNP	C	C	T			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr15:68118526C>T	ENST00000380035.2	+	2	418	c.360C>T	c.(358-360)cgC>cgT	p.R120R	SKOR1_ENST00000554240.1_Silent_p.R81R|SKOR1_ENST00000341418.5_Silent_p.R306R|SKOR1_ENST00000389002.1_Silent_p.R111R|SKOR1_ENST00000554054.1_Silent_p.R92R			P84550	SKOR1_HUMAN	SKI family transcriptional corepressor 1	120					negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)			endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(7)|urinary_tract(1)	23						ACAACCGCCGCGTGGCCCTGG	0.637																																																0			15											75.0	73.0	74.0					15																	68118526		2200	4298	6498	65905580	SO:0001819	synonymous_variant	390598				CCDS58374.1	15q23	2011-08-04	2010-06-23	2010-06-23	ENSG00000188779	ENSG00000188779		"""SKI transcriptional corepressors"""	21326	protein-coding gene	gene with protein product	"""transcriptional corepressor CORL1"", ""functional smad suppressing element 15"", ""corepressor for LBX1"""	611273	"""Lbxcor1 homolog (mouse)"""	LBXCOR1		15528197	Standard	NM_001258024		Approved	CORL1, FUSSEL15	uc031qsn.1	P84550		ENST00000380035.2:c.360C>T	15.37:g.68118526C>T			65905580	A6NIP4|A6NJY0|Q2VWA5	Silent	SNP	HMMPfam_Ski_Sno,superfamily_Putativ_DNA_bind,superfamily_SAND_like,HMMPfam_c-SKI_SMAD_bind	p.R111	ENST00000380035.2	37	c.333		15																																																																																			-	HMMPfam_Ski_Sno,superfamily_Putativ_DNA_bind		0.637	SKOR1-003	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	LBXCOR1	protein_coding	OTTHUMT00000410832.1	C	NM_001031807		65905580	+1	no_errors	NM_001031807	genbank	human	provisional	54_36p	silent	SNP	0.998	T
SLC12A4	6560	genome.wustl.edu	37	16	67986208	67986208	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr16:67986208C>T	ENST00000316341.3	-	7	936	c.796G>A	c.(796-798)Gtg>Atg	p.V266M	SLC12A4_ENST00000338335.3_Missense_Mutation_p.V266M|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000576616.1_Missense_Mutation_p.V266M|SLC12A4_ENST00000422611.2_Missense_Mutation_p.V268M|SLC12A4_ENST00000572037.1_Missense_Mutation_p.V218M|SLC12A4_ENST00000541864.2_Missense_Mutation_p.V235M|SLC12A4_ENST00000537830.2_Missense_Mutation_p.V260M	NM_001145961.1|NM_005072.4	NP_001139433.1|NP_005063.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	266					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCCACAAACACCACCAGGGTC	0.483																																																0			16											182.0	172.0	175.0					16																	67986208		2198	4300	6498	66543709	SO:0001583	missense	6560				CCDS10855.1, CCDS54030.1, CCDS54031.1, CCDS54032.1	16q22.1	2013-07-18	2013-07-18		ENSG00000124067	ENSG00000124067		"""Solute carriers"""	10913	protein-coding gene	gene with protein product		604119				8663127	Standard	NM_005072		Approved	KCC1	uc010ceu.2	Q9UP95	OTTHUMG00000137535	ENST00000316341.3:c.796G>A	16.37:g.67986208C>T	ENSP00000318557:p.Val266Met		66543709	B4DF69|B4DR04|B4DZ82|B7ZAV0|F5H066|F5H0S9|F5H3C0|O60632|O75893|Q13953|Q96LD5	Missense_Mutation	SNP	HMMPfam_AA_permease,HMMPfam_KCl_Cotrans_1	p.V266M	ENST00000316341.3	37	c.796	CCDS10855.1	16	.	.	.	.	.	.	.	.	.	.	C	22.2	4.253101	0.80135	.	.	ENSG00000124067	ENST00000422611;ENST00000541864;ENST00000537830;ENST00000338335;ENST00000316341	D;D;D;D;D	0.98732	-5.1;-5.1;-5.1;-5.1;-5.1	4.86	4.86	0.63082	Amino acid permease domain (1);	0.000000	0.85682	D	0.000000	D	0.99453	0.9806	H	0.96460	3.825	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.993;0.999;0.999;0.997;0.995;0.998	D	0.98272	1.0504	10	0.87932	D	0	.	18.337	0.90291	0.0:1.0:0.0:0.0	.	268;266;235;260;266;266	F5H3C0;B4DF30;F5H066;F5H0S9;Q9UP95-2;Q9UP95	.;.;.;.;.;S12A4_HUMAN	M	268;235;260;266;266	ENSP00000395983:V268M;ENSP00000438334:V235M;ENSP00000445962:V260M;ENSP00000343374:V266M;ENSP00000318557:V266M	ENSP00000318557:V266M	V	-	1	0	SLC12A4	66543709	1.000000	0.71417	1.000000	0.80357	0.716000	0.41182	7.776000	0.85560	2.425000	0.82216	0.305000	0.20034	GTG	-	HMMPfam_AA_permease		0.483	SLC12A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A4	protein_coding	OTTHUMT00000268864.4	C	NM_005072		66543709	-1	no_errors	NM_005072	genbank	human	validated	54_36p	missense	SNP	1.000	T
TAF1	6872	genome.wustl.edu	37	X	70608604	70608604	+	Nonsense_Mutation	SNP	G	G	A			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chrX:70608604G>A	ENST00000373790.4	+	17	2634	c.2583G>A	c.(2581-2583)tgG>tgA	p.W861*	TAF1_ENST00000423759.1_Nonsense_Mutation_p.W882*|TAF1_ENST00000449580.1_Nonsense_Mutation_p.W861*|TAF1_ENST00000276072.3_Nonsense_Mutation_p.W882*	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	861	Histone acetyltransferase (HAT).				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				ACTCAAACTGGTGGGTGCTTA	0.433																																																0			X											168.0	143.0	151.0					X																	70608604		2203	4300	6503	70525329	SO:0001587	stop_gained	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.2583G>A	X.37:g.70608604G>A	ENSP00000362895:p.Trp861*		70525329	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Nonsense_Mutation	SNP	HMMPfam_TBP-binding,superfamily_TAF_II_230,superfamily_Bromodomain,HMMSmart_BROMO,HMMPfam_Bromodomain,PatternScan_BROMODOMAIN_1	p.W882*	ENST00000373790.4	37	c.2646	CCDS35325.1	X	.	.	.	.	.	.	.	.	.	.	.	42	9.310952	0.99133	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	.	.	.	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.9102	0.88931	0.0:0.0:1.0:0.0	.	.	.	.	X	861;861;882;882	.	ENSP00000276072:W882X	W	+	3	0	TAF1	70525329	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.249000	0.74217	0.594000	0.82650	TGG	-	NULL		0.433	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	protein_coding	OTTHUMT00000058995.2	G	NM_004606		70525329	+1	no_errors	NM_004606	genbank	human	reviewed	54_36p	nonsense	SNP	1.000	A
TAF1	6872	genome.wustl.edu	37	X	70614011	70614011	+	Missense_Mutation	SNP	A	A	C			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chrX:70614011A>C	ENST00000373790.4	+	22	3370	c.3319A>C	c.(3319-3321)Atg>Ctg	p.M1107L	TAF1_ENST00000423759.1_Missense_Mutation_p.M1128L|TAF1_ENST00000449580.1_Missense_Mutation_p.M1107L|TAF1_ENST00000276072.3_Missense_Mutation_p.M1128L	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1107					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CATTGAGAACATGTTGCAGAA	0.453																																																0			X											125.0	97.0	107.0					X																	70614011		2203	4300	6503	70530736	SO:0001583	missense	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.3319A>C	X.37:g.70614011A>C	ENSP00000362895:p.Met1107Leu		70530736	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	HMMPfam_Bromodomain,HMMSmart_BROMO,superfamily_Bromodomain,HMMPfam_TBP-binding,superfamily_TAF_II_230,PatternScan_BROMODOMAIN_1	p.M1128L	ENST00000373790.4	37	c.3382	CCDS35325.1	X	.	.	.	.	.	.	.	.	.	.	.	14.87	2.663066	0.47572	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.16457	2.34;2.34;2.34;2.34	5.24	4.0	0.46444	.	0.000000	0.85682	D	0.000000	T	0.13200	0.0320	N	0.17723	0.515	0.58432	D	0.999999	B;B;B	0.26975	0.161;0.165;0.161	B;B;B	0.34038	0.174;0.147;0.105	T	0.10086	-1.0645	10	0.56958	D	0.05	.	10.9881	0.47532	0.8461:0.1539:0.0:0.0	.	1107;1107;1128	P21675-4;P21675;P21675-2	.;TAF1_HUMAN;.	L	1107;1107;1128;1128	ENSP00000362895:M1107L;ENSP00000389000:M1107L;ENSP00000406549:M1128L;ENSP00000276072:M1128L	ENSP00000276072:M1128L	M	+	1	0	TAF1	70530736	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.033000	0.76504	1.744000	0.51775	0.430000	0.28490	ATG	-	NULL		0.453	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	protein_coding	OTTHUMT00000058995.2	A	NM_004606		70530736	+1	no_errors	NM_004606	genbank	human	reviewed	54_36p	missense	SNP	1.000	C
RNF157	114804	genome.wustl.edu	37	17	74222861	74222861	+	Intron	SNP	G	G	A	rs575447764		TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr17:74222861G>A	ENST00000269391.6	-	1	221				RNF157_ENST00000592271.1_Intron|RNF157_ENST00000319945.6_Intron	NM_052916.2	NP_443148.1	Q96PX1	RN157_HUMAN	ring finger protein 157								zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			CCAACACCTCGTTGCTCAGGA	0.522													G|||	1	0.000199681	0.0008	0.0	5008	,	,		21203	0.0		0.0	False		,,,				2504	0.0				GBM(186;507 2120 27388 27773 52994)											0			17																																								71734456	SO:0001627	intron_variant	643159			AK091467	CCDS32740.1	17q25.3	2004-02-27			ENSG00000141576	ENSG00000141576		"""RING-type (C3HC4) zinc fingers"""	29402	protein-coding gene	gene with protein product						11572484	Standard	NM_052916		Approved	KIAA1917	uc002jqz.3	Q96PX1	OTTHUMG00000132627	ENST00000269391.6:c.88+13372C>T	17.37:g.74222861G>A			71734456	Q8NB72|Q96N56	Silent	SNP	HMMPfam_bZIP_1,HMMSmart_SM00338,PatternScan_BZIP_BASIC	p.N9	ENST00000269391.6	37	c.27	CCDS32740.1	17																																																																																			-	NULL		0.522	RNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC643159	protein_coding	OTTHUMT00000255874.2	G	XM_290732		71734456	-1	pseudogene	XM_928637	genbank	human	model	54_36p	silent	SNP	0.992	A
UCP2	7351	genome.wustl.edu	37	11	73689120	73689120	+	Missense_Mutation	SNP	G	G	T			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr11:73689120G>T	ENST00000310473.3	-	4	990	c.148C>A	c.(148-150)Cca>Aca	p.P50T	UCP2_ENST00000542615.1_5'Flank|UCP2_ENST00000536983.1_Missense_Mutation_p.P50T	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	50					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to amino acid starvation (GO:0034198)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|female pregnancy (GO:0007565)|liver regeneration (GO:0097421)|mitochondrial transport (GO:0006839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|positive regulation of cell death (GO:0010942)|proton transport (GO:0015992)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					GCGCGCACTGGCCCCTGACTT	0.592																																					Colon(191;388 2040 43557 45622 48925)											0			11											34.0	37.0	36.0					11																	73689120		2200	4293	6493	73366768	SO:0001583	missense	7351			U76367	CCDS8228.1	11q13	2014-02-12						"""Solute carriers"""	12518	protein-coding gene	gene with protein product		601693	"""body mass index QTL 4"", ""body mass index quantitative trait 4"""	BMIQ4		9196039, 11381268	Standard	NM_003355		Approved	SLC25A8	uc001oup.1	P55851		ENST00000310473.3:c.148C>A	11.37:g.73689120G>T	ENSP00000312029:p.Pro50Thr		73366768	Q4PJH8|Q53HM3	Missense_Mutation	SNP	superfamily_Mitoch_carrier,HMMPfam_Mito_carr	p.P50T	ENST00000310473.3	37	c.148	CCDS8228.1	11	.	.	.	.	.	.	.	.	.	.	G	6.257	0.415452	0.11870	.	.	ENSG00000175567	ENST00000310473;ENST00000536983;ENST00000544615	T;T;T	0.78003	-1.14;-1.14;-1.14	6.07	-3.01	0.05463	Mitochondrial carrier domain (2);	1.058660	0.07231	N	0.862570	T	0.65450	0.2692	L	0.40543	1.245	0.09310	N	1	B;B	0.10296	0.0;0.003	B;B	0.14023	0.002;0.01	T	0.48258	-0.9051	10	0.22706	T	0.39	0.0056	8.3689	0.32404	0.2627:0.3992:0.3382:0.0	.	50;50	F5GX45;P55851	.;UCP2_HUMAN	T	50;50;23	ENSP00000312029:P50T;ENSP00000441147:P50T;ENSP00000439951:P23T	ENSP00000312029:P50T	P	-	1	0	UCP2	73366768	0.000000	0.05858	0.589000	0.28718	0.242000	0.25591	-0.606000	0.05654	-0.349000	0.08274	-0.819000	0.03115	CCA	-	superfamily_Mitoch_carrier,HMMPfam_Mito_carr		0.592	UCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCP2	protein_coding	OTTHUMT00000398108.1	G	NM_003355		73366768	-1	no_errors	NM_003355	genbank	human	reviewed	54_36p	missense	SNP	0.014	T
WWP1P1	339843	genome.wustl.edu	37	3	98379278	98379278	+	IGR	SNP	T	T	C			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr3:98379278T>C								AC021660.1 (36390 upstream) : ST3GAL6-AS1 (53895 downstream)																							ATTGAAAAAGTTGGCAAAGAT	0.383																																																0			3																																								99861968	SO:0001628	intergenic_variant	339843																															3.37:g.98379278T>C			99861968		RNA	SNP	-	NULL		37	NULL		3																																																																																			-	-	0	0.383					LOC339843			T			99861968	+1	pseudogene	XR_016598	genbank	human	model	54_36p	rna	SNP	1.000	C
KLF10	7071	genome.wustl.edu	37	8	103664187	103664187	+	Missense_Mutation	SNP	T	T	C			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	T	T					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr8:103664187T>C	ENST00000285407.6	-	3	673	c.373A>G	c.(373-375)Act>Gct	p.T125A	KLF10_ENST00000395884.3_Missense_Mutation_p.T114A	NM_005655.2	NP_005646.1	Q13118	KLF10_HUMAN	Kruppel-like factor 10	125					bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular response to peptide (GO:1901653)|cellular response to starvation (GO:0009267)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoclast differentiation (GO:0045672)|regulation of circadian rhythm (GO:0042752)|skeletal system development (GO:0001501)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			GGTTTGGCAGTATCTGAGAGT	0.483											OREG0018913	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(16;495 519 2144 16528 44005)											0			8											76.0	82.0	80.0					8																	103664187		2203	4300	6503	103733363	SO:0001583	missense	7071			U21847	CCDS6294.1, CCDS47905.1	8q22.3	2014-09-17	2004-11-29	2004-12-01	ENSG00000155090	ENSG00000155090		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11810	protein-coding gene	gene with protein product		601878	"""TGFB inducible early growth response"""	TIEG		8584037, 9721211	Standard	NM_001032282		Approved	EGRA, TIEG1	uc011lhk.1	Q13118	OTTHUMG00000164735	ENST00000285407.6:c.373A>G	8.37:g.103664187T>C	ENSP00000285407:p.Thr125Ala	1375	103733363	A8MVH0|B2R794|L0R4P6|L0R679|O75411|Q503B2	Missense_Mutation	SNP	superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1	p.T125A	ENST00000285407.6	37	c.373	CCDS6294.1	8	.	.	.	.	.	.	.	.	.	.	T	0.033	-1.322135	0.01320	.	.	ENSG00000155090	ENST00000285407;ENST00000395884	T;T	0.12361	2.69;2.74	5.84	-11.7	0.00046	.	1.169960	0.05896	N	0.629056	T	0.04137	0.0115	N	0.05383	-0.06	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.24977	-1.0145	10	0.11794	T	0.64	.	5.985	0.19430	0.0935:0.4524:0.2851:0.1689	.	125;114	Q13118;O75411	KLF10_HUMAN;.	A	125;114	ENSP00000285407:T125A;ENSP00000379222:T114A	ENSP00000285407:T125A	T	-	1	0	KLF10	103733363	0.000000	0.05858	0.000000	0.03702	0.264000	0.26372	-1.847000	0.01675	-2.099000	0.00849	-0.290000	0.09829	ACT	-	NULL		0.483	KLF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLF10	protein_coding	OTTHUMT00000379967.1	T			103733363	-1	no_errors	NM_005655	genbank	human	validated	54_36p	missense	SNP	0.001	C
CXorf57	55086	genome.wustl.edu	37	X	105855952	105855952	+	Splice_Site	SNP	C	C	T			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chrX:105855952C>T	ENST00000372548.4	+	1	751	c.642C>T	c.(640-642)agC>agT	p.S214S	CXorf57_ENST00000372544.2_Splice_Site_p.S214S	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	214							poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						ACAACTTTAGCGGTAAGTGTT	0.413																																																0			X											72.0	75.0	74.0					X																	105855952		2203	4299	6502	105742608	SO:0001630	splice_region_variant	55086			AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.643+1C>T	X.37:g.105855952C>T			105742608	H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Silent	SNP	superfamily_Nucleic acid-binding proteins	p.S214	ENST00000372548.4	37	c.642	CCDS14519.1	X																																																																																			-	NULL		0.413	CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf57	protein_coding	OTTHUMT00000057800.2	C	NM_018015	Silent	105742608	+1	no_errors	NM_018015	genbank	human	validated	54_36p	silent	SNP	0.191	T
ST6GAL2	84620	genome.wustl.edu	37	2	107446614	107446614	+	Missense_Mutation	SNP	A	A	G			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr2:107446614A>G	ENST00000409382.3	-	5	1836	c.1226T>C	c.(1225-1227)cTt>cCt	p.L409P	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.L409P|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.L409P	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	409					growth (GO:0040007)|multicellular organismal development (GO:0007275)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,6-sialyltransferase activity (GO:0003835)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TTTAGGATGAAGAATGTAAAA	0.378																																																0			2											137.0	136.0	137.0					2																	107446614		2203	4300	6503	106813046	SO:0001583	missense	84620			AB059555	CCDS2073.1, CCDS46380.1	2q11-q12	2008-02-05	2005-02-07	2005-02-07	ENSG00000144057	ENSG00000144057	2.4.99.2		10861	protein-coding gene	gene with protein product		608472	"""sialyltransferase 2 (monosialoganglioside sialyltransferase)"""	SIAT2			Standard	NM_032528		Approved	KIAA1877, St6gal2, St6GalII	uc002tdr.3	Q96JF0	OTTHUMG00000130923	ENST00000409382.3:c.1226T>C	2.37:g.107446614A>G	ENSP00000386942:p.Leu409Pro		106813046	D3DVK3|Q53QP4|Q86Y44|Q8IUG7|Q96HE4	Missense_Mutation	SNP	HMMPfam_Glyco_transf_29,superfamily_Glycoside hydrolase/deacetylase	p.L409P	ENST00000409382.3	37	c.1226	CCDS2073.1	2	.	.	.	.	.	.	.	.	.	.	A	23.1	4.377580	0.82682	.	.	ENSG00000144057	ENST00000361686;ENST00000409382;ENST00000409087	T;T;T	0.35236	1.32;1.32;1.32	6.06	6.06	0.98353	Glycoside hydrolase/deacetylase, beta/alpha-barrel (1);	0.000000	0.85682	D	0.000000	T	0.64527	0.2606	M	0.82630	2.6	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.996	T	0.69577	-0.5108	10	0.87932	D	0	-26.9201	15.7905	0.78357	1.0:0.0:0.0:0.0	.	409;409	Q96JF0-2;Q96JF0	.;SIAT2_HUMAN	P	409	ENSP00000355273:L409P;ENSP00000386942:L409P;ENSP00000387332:L409P	ENSP00000355273:L409P	L	-	2	0	ST6GAL2	106813046	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	9.339000	0.96797	2.324000	0.78689	0.533000	0.62120	CTT	-	HMMPfam_Glyco_transf_29,superfamily_Glycoside hydrolase/deacetylase		0.378	ST6GAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ST6GAL2	protein_coding	OTTHUMT00000330065.1	A	NM_032528		106813046	-1	no_errors	NM_032528	genbank	human	validated	54_36p	missense	SNP	1.000	G
ANK2	287	genome.wustl.edu	37	4	114177019	114177019	+	Silent	SNP	G	G	A	rs139123934		TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr4:114177019G>A	ENST00000357077.4	+	11	1172	c.1119G>A	c.(1117-1119)gcG>gcA	p.A373A	ANK2_ENST00000506722.1_Silent_p.A352A|ANK2_ENST00000264366.6_Silent_p.A373A|ANK2_ENST00000394537.3_Silent_p.A373A	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	373					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACGTTGCTGCGCACTGTGGCC	0.532													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18571	0.0		0.0	False		,,,				2504	0.0															0			4						G	,,	1,4405	2.1+/-5.4	0,1,2202	169.0	148.0	155.0		1056,1119,1119	-4.0	1.0	4	dbSNP_134	155	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	ANK2	NM_001127493.1,NM_001148.4,NM_020977.3	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	352/1864,373/3958,373/1873	114177019	1,13005	2203	4300	6503	114396468	SO:0001819	synonymous_variant	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.1119G>A	4.37:g.114177019G>A			114396468	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank,HMMPfam_ZU5,PatternScan_ALDEHYDE_DEHYDR_GLU,superfamily_DEATH_like,HMMSmart_DEATH,HMMPfam_Death	p.A373	ENST00000357077.4	37	c.1119	CCDS3702.1	4																																																																																			-	superfamily_ANK,HMMSmart_ANK,HMMPfam_Ank		0.532	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	protein_coding	OTTHUMT00000256422.2	G	NM_001148		114396468	+1	no_errors	NM_001148	genbank	human	reviewed	54_36p	silent	SNP	0.732	A
TES	26136	genome.wustl.edu	37	7	115889146	115889146	+	Silent	SNP	A	A	G			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	A	A					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr7:115889146A>G	ENST00000358204.4	+	3	401	c.186A>G	c.(184-186)aaA>aaG	p.K62K	AC073130.3_ENST00000444244.1_RNA|TES_ENST00000537767.1_Intron|AC002066.1_ENST00000446355.2_RNA|TES_ENST00000485009.1_3'UTR|TES_ENST00000393481.2_Silent_p.K53K	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	62					negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|protein complex (GO:0043234)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			AGGATCGAAAAGTGGGAAAAC	0.353																																																0			7											78.0	77.0	77.0					7																	115889146		2203	4300	6503	115676382	SO:0001819	synonymous_variant	26136			AJ250865	CCDS5763.1, CCDS5764.1	7q31.2	2004-04-20			ENSG00000135269	ENSG00000135269			14620	protein-coding gene	gene with protein product		606085				10950921	Standard	NM_015641		Approved	DKFZP586B2022, TESS-2, TESTIN	uc003vho.3	Q9UGI8	OTTHUMG00000023092	ENST00000358204.4:c.186A>G	7.37:g.115889146A>G			115676382	A4D0U6|Q9GZQ1|Q9HAJ9	Silent	SNP	HMMPfam_PET,HMMSmart_SM00132,PatternScan_LIM_DOMAIN_1,HMMPfam_LIM,superfamily_Glucocorticoid receptor-like (DNA-binding domain)	p.K62	ENST00000358204.4	37	c.186	CCDS5763.1	7																																																																																			-	NULL		0.353	TES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TES	protein_coding	OTTHUMT00000059413.2	A	NM_015641		115676382	+1	no_errors	NM_015641	genbank	human	reviewed	54_36p	silent	SNP	1.000	G
TRAM1L1	133022	genome.wustl.edu	37	4	118005645	118005645	+	Missense_Mutation	SNP	G	G	C	rs562701564		TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr4:118005645G>C	ENST00000310754.4	-	1	1091	c.905C>G	c.(904-906)tCg>tGg	p.S302W		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	302	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.				protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GCAACTGGACGACAGAACAGC	0.448																																																0			4											120.0	110.0	113.0					4																	118005645		2203	4300	6503	118225093	SO:0001583	missense	133022			AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.905C>G	4.37:g.118005645G>C	ENSP00000309402:p.Ser302Trp		118225093	Q8N2L7	Missense_Mutation	SNP	HMMPfam_TRAM1,HMMSmart_TLC,HMMPfam_TRAM_LAG1_CLN8	p.S302W	ENST00000310754.4	37	c.905	CCDS3707.1	4	.	.	.	.	.	.	.	.	.	.	G	13.34	2.207663	0.39003	.	.	ENSG00000174599	ENST00000310754	D	0.85088	-1.94	3.74	3.74	0.42951	TRAM/LAG1/CLN8 homology domain (3);	0.111598	0.64402	D	0.000012	D	0.88190	0.6370	L	0.48642	1.525	0.50467	D	0.999873	D	0.69078	0.997	D	0.73708	0.981	D	0.87955	0.2726	10	0.56958	D	0.05	-24.3637	11.3444	0.49552	0.0:0.0:1.0:0.0	.	302	Q8N609	TR1L1_HUMAN	W	302	ENSP00000309402:S302W	ENSP00000309402:S302W	S	-	2	0	TRAM1L1	118225093	1.000000	0.71417	0.324000	0.25361	0.336000	0.28762	4.487000	0.60293	2.385000	0.81259	0.650000	0.86243	TCG	-	HMMSmart_TLC,HMMPfam_TRAM_LAG1_CLN8		0.448	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRAM1L1	protein_coding	OTTHUMT00000256513.1	G	NM_152402		118225093	-1	no_errors	NM_152402	genbank	human	validated	54_36p	missense	SNP	0.397	C
MMP17	4326	genome.wustl.edu	37	12	132328609	132328609	+	Missense_Mutation	SNP	C	C	A			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr12:132328609C>A	ENST00000360564.1	+	6	1053	c.951C>A	c.(949-951)gaC>gaA	p.D317E	MMP17_ENST00000535182.1_3'UTR|MMP17_ENST00000535291.1_Missense_Mutation_p.D233E|MMP17_ENST00000535004.1_5'Flank	NM_016155.4	NP_057239.4	Q9ULZ9	MMP17_HUMAN	matrix metallopeptidase 17 (membrane-inserted)	317					positive regulation of catalytic activity (GO:0043085)	anchored component of membrane (GO:0031225)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)	5	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.82e-07)|Epithelial(86;1.51e-06)|all cancers(50;2.35e-05)	Marimastat(DB00786)	AGCCCCCAGACAACCGGTCCA	0.677																																																0			12																																								130894562	SO:0001583	missense	4326			X89576	CCDS31927.1	12q24.3	2005-08-08	2005-08-08		ENSG00000198598	ENSG00000198598			7163	protein-coding gene	gene with protein product		602285	"""matrix metalloproteinase 17 (membrane-inserted)"""			9878265	Standard	NM_016155		Approved	MT4-MMP	uc001ujc.1	Q9ULZ9	OTTHUMG00000168050	ENST00000360564.1:c.951C>A	12.37:g.132328609C>A	ENSP00000353767:p.Asp317Glu		130894562	Q14850	Missense_Mutation	SNP	"HMMPfam_PG_binding_1,superfamily_PGBD-like,HMMSmart_SM00235,superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Peptidase_M10,PatternScan_ZINC_PROTEASE,superfamily_Hemopexin-like domain,HMMPfam_Hemopexin,HMMSmart_SM00120"	p.D317E	ENST00000360564.1	37	c.951	CCDS31927.1	12	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.025179	0.00414	.	.	ENSG00000198598	ENST00000360564;ENST00000535291;ENST00000534865	T;T;T	0.16457	2.34;2.36;2.59	4.65	0.562	0.17290	.	1.077680	0.07092	N	0.838886	T	0.08179	0.0204	L	0.28274	0.84	0.58432	D	0.999999	B	0.06786	0.001	B	0.08055	0.003	T	0.47699	-0.9097	10	0.02654	T	1	.	0.4315	0.00472	0.2398:0.3336:0.1721:0.2545	.	317	Q9ULZ9	MMP17_HUMAN	E	317;233;158	ENSP00000353767:D317E;ENSP00000441106:D233E;ENSP00000442104:D158E	ENSP00000353767:D317E	D	+	3	2	MMP17	130894562	0.981000	0.34729	0.006000	0.13384	0.028000	0.11728	0.446000	0.21694	0.118000	0.18165	-0.137000	0.14449	GAC	-	NULL		0.677	MMP17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP17	protein_coding	OTTHUMT00000397757.1	C	NM_016155		130894562	+1	no_errors	NM_016155	genbank	human	reviewed	54_36p	missense	SNP	0.981	A
GPR107	57720	genome.wustl.edu	37	9	132904268	132904268	+	IGR	SNP	G	G	A	rs74994578	byFrequency	TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr9:132904268G>A	ENST00000372406.1	+	0	7353				AL360004.1_ENST00000358748.1_Silent_p.P38P	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107							integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				CAGCTCTTACGGGACAGAAGT	0.617													G|||	691	0.137979	0.0688	0.0533	5008	,	,		18408	0.3056		0.1093	False		,,,				2504	0.1483															0			9																																								131944089	SO:0001628	intergenic_variant	0			AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"""GPCR / Unclassified : 7TM orphan receptors"""	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804		9.37:g.132904268G>A			131944089	A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Silent	SNP	NULL	p.P38	ENST00000372406.1	37	c.114	CCDS48041.1	9																																																																																			-	NULL		0.617	GPR107-003	NOVEL	basic|CCDS	protein_coding	ENSG00000196979	protein_coding	OTTHUMT00000054643.2	G			131944089	-1	no_errors	ENST00000358748	ensembl	human	known	54_36p	silent	SNP	0.001	A
ATR	545	genome.wustl.edu	37	3	142274948	142274948	+	Missense_Mutation	SNP	C	C	G			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr3:142274948C>G	ENST00000350721.4	-	10	2233	c.2112G>C	c.(2110-2112)aaG>aaC	p.K704N	ATR_ENST00000383101.3_Missense_Mutation_p.K640N	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ATR serine/threonine kinase	704					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to UV (GO:0034644)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|multicellular organismal development (GO:0007275)|negative regulation of DNA replication (GO:0008156)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|protein autophosphorylation (GO:0046777)|regulation of protein binding (GO:0043393)|replicative senescence (GO:0090399)|response to drug (GO:0042493)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|PML body (GO:0016605)|XY body (GO:0001741)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|MutLalpha complex binding (GO:0032405)|MutSalpha complex binding (GO:0032407)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CAAATTCTTTCTTGACAATGT	0.348								Other conserved DNA damage response genes																																								0			3											95.0	97.0	97.0					3																	142274948		2203	4300	6503	143757638	SO:0001583	missense	545			U76308	CCDS3124.1	3q23	2014-06-17	2014-06-17		ENSG00000175054	ENSG00000175054			882	protein-coding gene	gene with protein product	"""MEC1, mitosis entry checkpoint 1, homolog (S. cerevisiae)"""	601215	"""ataxia telangiectasia and Rad3 related"""			8978690, 8610130	Standard	NM_001184		Approved	FRP1, SCKL, SCKL1, MEC1	uc003eux.4	Q13535	OTTHUMG00000159234	ENST00000350721.4:c.2112G>C	3.37:g.142274948C>G	ENSP00000343741:p.Lys704Asn		143757638	Q59HB2|Q7KYL3|Q93051|Q9BXK4	Missense_Mutation	SNP	superfamily_ARM repeat,HMMPfam_HEAT,HMMPfam_UME,HMMSmart_SM00802,superfamily_TPR-like,HMMPfam_FAT,superfamily_Protein kinase-like (PK-like),HMMPfam_PI3_PI4_kinase,HMMSmart_SM00146,PatternScan_PI3_4_KINASE_2,HMMPfam_FATC	p.K704N	ENST00000350721.4	37	c.2112	CCDS3124.1	3	.	.	.	.	.	.	.	.	.	.	C	18.70	3.680644	0.68042	.	.	ENSG00000175054	ENST00000350721;ENST00000383101	T;T	0.68479	-0.33;-0.33	4.82	3.02	0.34903	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.61540	0.2355	L	0.32530	0.975	0.53005	D	0.99996	D	0.59767	0.986	P	0.50970	0.655	T	0.58487	-0.7628	10	0.36615	T	0.2	-14.3305	11.2165	0.48830	0.0:0.8503:0.0:0.1497	.	704	Q13535	ATR_HUMAN	N	704;640	ENSP00000343741:K704N;ENSP00000372581:K640N	ENSP00000343741:K704N	K	-	3	2	ATR	143757638	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.090000	0.30902	0.740000	0.32651	0.585000	0.79938	AAG	-	superfamily_ARM repeat		0.348	ATR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATR	protein_coding	OTTHUMT00000353995.2	C	NM_001184		143757638	-1	no_errors	NM_001184	genbank	human	reviewed	54_36p	missense	SNP	1.000	G
NUDT17	200035	genome.wustl.edu	37	1	145589324	145589324	+	Missense_Mutation	SNP	G	G	C			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr1:145589324G>C	ENST00000334513.5	-	1	115	c.104C>G	c.(103-105)aCg>aGg	p.T35R	NUDT17_ENST00000444015.2_5'Flank	NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 17	35							hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AATGGGCCACGTCCCGAGCCC	0.692											OREG0013751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																				0			1											13.0	13.0	13.0					1																	145589324		2188	4283	6471	144300681	SO:0001583	missense	200035			BC046352	CCDS72865.1	1q21.1	2008-02-05			ENSG00000186364	ENSG00000186364		"""Nudix motif containing"""	26618	protein-coding gene	gene with protein product						12477932	Standard	NM_001012758		Approved	FLJ34433	uc001eoe.3	P0C025	OTTHUMG00000013752	ENST00000334513.5:c.104C>G	1.37:g.145589324G>C	ENSP00000334437:p.Thr35Arg	1695	144300681		Missense_Mutation	SNP	PatternScan_NUDIX,superfamily_NUDIX_hydrolase,HMMPfam_NUDIX	p.T35R	ENST00000334513.5	37	c.104	CCDS30830.1	1	.	.	.	.	.	.	.	.	.	.	G	11.81	1.748781	0.30955	.	.	ENSG00000186364	ENST00000334513	.	.	.	3.93	3.93	0.45458	.	0.303089	0.31156	N	0.008150	T	0.10723	0.0262	N	0.08118	0	0.27823	N	0.941715	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.16129	-1.0413	9	0.59425	D	0.04	-13.192	11.3342	0.49494	0.0:0.0:1.0:0.0	.	35;35	B4DNV8;P0C025	.;NUD17_HUMAN	R	35	.	ENSP00000334437:T35R	T	-	2	0	NUDT17	144300681	0.998000	0.40836	0.997000	0.53966	0.154000	0.21943	2.433000	0.44793	2.026000	0.59711	0.585000	0.79938	ACG	-	NULL		0.692	NUDT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT17	protein_coding	OTTHUMT00000038541.3	G	XM_496395		144300681	-1	no_errors	NM_001012758	genbank	human	validated	54_36p	missense	SNP	0.301	C
SEMA6C	10500	genome.wustl.edu	37	1	151110197	151110197	+	Missense_Mutation	SNP	C	C	T			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr1:151110197C>T	ENST00000341697.3	-	10	2437	c.746G>A	c.(745-747)cGg>cAg	p.R249Q				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	249	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCTCCCCAGCCGAGCATCCTC	0.567																																																0			1											123.0	110.0	115.0					1																	151110197		2203	4300	6503	149376821	SO:0001583	missense	10500			AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.746G>A	1.37:g.151110197C>T	ENSP00000344148:p.Arg249Gln		149376821	D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	superfamily_Sema domain,HMMSmart_SM00630,HMMPfam_Sema,HMMPfam_PSI,superfamily_Plexin repeat	p.R249Q	ENST00000341697.3	37	c.746	CCDS984.1	1	.	.	.	.	.	.	.	.	.	.	C	18.71	3.682165	0.68042	.	.	ENSG00000143434	ENST00000368914;ENST00000368912;ENST00000368913;ENST00000341697;ENST00000392792	T;T;T;T	0.09911	2.93;2.93;2.93;2.93	4.48	4.48	0.54585	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.137048	0.46442	D	0.000289	T	0.07638	0.0192	N	0.14661	0.345	0.29353	N	0.865176	D;D;D;D	0.76494	0.985;0.999;0.996;0.999	P;D;P;D	0.80764	0.792;0.975;0.77;0.994	T	0.20605	-1.0270	10	0.32370	T	0.25	.	10.5429	0.45043	0.0:0.8038:0.1962:0.0	.	249;209;249;249	B4DZD4;Q9H3T2-2;Q9H3T2-3;Q9H3T2	.;.;.;SEM6C_HUMAN	Q	249;209;249;249;249	ENSP00000357910:R249Q;ENSP00000357908:R209Q;ENSP00000357909:R249Q;ENSP00000344148:R249Q	ENSP00000344148:R249Q	R	-	2	0	SEMA6C	149376821	0.052000	0.20516	0.986000	0.45419	0.881000	0.50899	1.510000	0.35790	2.323000	0.78572	0.561000	0.74099	CGG	-	superfamily_Sema domain,HMMSmart_SM00630,HMMPfam_Sema		0.567	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	SEMA6C	protein_coding	OTTHUMT00000034074.1	C	NM_030913		149376821	-1	no_errors	NM_030913	genbank	human	reviewed	54_36p	missense	SNP	0.729	T
PNMA5	114824	genome.wustl.edu	37	X	152159634	152159634	+	Missense_Mutation	SNP	G	G	T			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chrX:152159634G>T	ENST00000439251.1	-	2	947	c.509C>A	c.(508-510)cCa>cAa	p.P170Q	PNMA5_ENST00000452693.1_Missense_Mutation_p.P170Q|PNMA5_ENST00000535214.1_Missense_Mutation_p.P170Q|PNMA5_ENST00000361887.5_Missense_Mutation_p.P170Q	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	170					positive regulation of apoptotic process (GO:0043065)					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTTCGCCTGGGCTAGGGGA	0.522																																																0			X											96.0	86.0	90.0					X																	152159634		2203	4300	6503	151910290	SO:0001583	missense	114824			AB067521	CCDS14718.1	Xq28	2012-02-09	2012-02-09		ENSG00000198883	ENSG00000198883		"""Paraneoplastic Ma antigens"""	18743	protein-coding gene	gene with protein product	"""paraneoplastic antigen family 5"""	300916	"""paraneoplastic antigen like 5"""			16214224	Standard	NM_052926		Approved	KIAA1934	uc004fgy.4	Q96PV4	OTTHUMG00000024184	ENST00000439251.1:c.509C>A	X.37:g.152159634G>T	ENSP00000388850:p.Pro170Gln		151910290	B4DI72|B7Z9Y9|Q495L5|Q8NET3	Missense_Mutation	SNP	NULL	p.P170Q	ENST00000439251.1	37	c.509	CCDS14718.1	X	.	.	.	.	.	.	.	.	.	.	G	12.54	1.968141	0.34754	.	.	ENSG00000198883	ENST00000361887;ENST00000535214;ENST00000439251;ENST00000452693	T;T;T;T	0.10960	2.82;2.82;2.82;2.82	3.05	1.14	0.20703	.	.	.	.	.	T	0.18593	0.0446	L	0.39633	1.23	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.13098	-1.0522	9	0.39692	T	0.17	.	4.8779	0.13665	0.0:0.2365:0.5168:0.2467	.	170	Q96PV4	PNMA5_HUMAN	Q	170	ENSP00000354834:P170Q;ENSP00000445775:P170Q;ENSP00000388850:P170Q;ENSP00000392342:P170Q	ENSP00000354834:P170Q	P	-	2	0	PNMA5	151910290	0.016000	0.18221	0.000000	0.03702	0.054000	0.15201	1.864000	0.39469	0.181000	0.19994	0.468000	0.43344	CCA	-	NULL		0.522	PNMA5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PNMA5	protein_coding	OTTHUMT00000060925.1	G	NM_052926		151910290	-1	no_errors	NM_001103150	genbank	human	validated	54_36p	missense	SNP	0.029	T
Unknown	0	genome.wustl.edu	37	1	166245886	166245886	+	IGR	SNP	G	G	A			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr1:166245886G>A								FAM78B (109680 upstream) : RP11-479J7.2 (58234 downstream)																							CCTCCTCCCCGCCCACCTCTG	0.582																																																0			1																																								164512510	SO:0001628	intergenic_variant	284685																															1.37:g.166245886G>A			164512510		RNA	SNP	-	NULL		37	NULL		1																																																																																			-	-	0	0.582					LOC284685			G			164512510	-1	pseudogene	XR_017685	genbank	human	model	54_36p	rna	SNP	1.000	A
Unknown	0	genome.wustl.edu	37	3	163719601	163719601	+	IGR	SNP	C	C	T			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	C	C					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr3:163719601C>T								AC092962.1 (346432 upstream) : MIR1263 (169657 downstream)																							TCACAAAGCTCTCCTCCAGGT	0.468																																																0			3																																								165202295	SO:0001628	intergenic_variant	0																															3.37:g.163719601C>T			165202295		Silent	SNP	HMMPfam_Neugrin	p.E122		37	c.366		3																																																																																			-	HMMPfam_Neugrin	0	0.468					ENSG00000214210			C			165202295	-1	no_start_codon	ENST00000397815	ensembl	human	known	54_36p	silent	SNP	0.000	T
FMO6P	388714	genome.wustl.edu	37	1	171130316	171130316	+	3'UTR	SNP	G	G	A	rs200384864		TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr1:171130316G>A	ENST00000236166.3	+	0	1480							O60774	FMO6_HUMAN	flavin containing monooxygenase 6 pseudogene							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)										TGGCCCTGGAGGTGTACTTTG	0.557																																																0			1																																								169396940	SO:0001624	3_prime_UTR_variant	388714			AK130511		1q24.3	2011-08-04	2006-12-04	2006-12-04	ENSG00000117507	ENSG00000117507			24024	pseudogene	pseudogene			"""flavin containing monooxygenase 6"""	FMO6		15077013	Standard	NR_002601		Approved		uc001ghj.1	O60774	OTTHUMG00000035503	ENST00000236166.3:c.*113G>A	1.37:g.171130316G>A			169396940		Silent	SNP	superfamily_SSF51905,HMMPfam_FMO-like	p.E467	ENST00000236166.3	37	c.1401		1																																																																																			-	HMMPfam_FMO-like		0.557	FMO6P-003	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	FMO6P	protein_coding	OTTHUMT00000385941.4	G	XM_371326		169396940	+1	no_errors	ENST00000236166	ensembl	human	known	54_36p	silent	SNP	0.988	A
HNRNPA1P39	402112	genome.wustl.edu	37	2	175175054	175175054	+	IGR	SNP	G	G	A			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr2:175175054G>A								Y_RNA (45345 upstream) : AC018470.4 (15700 downstream)																							ttccctccaagaccaaagttg	0.532																																																0			2																																								174883300	SO:0001628	intergenic_variant	402112																															2.37:g.175175054G>A			174883300		RNA	SNP	-	NULL		37	NULL		2																																																																																			-	-	0	0.532					LOC402112			G			174883300	-1	pseudogene	XR_017084	genbank	human	model	54_36p	rna	SNP	0.622	A
PRIMPOL	201973	genome.wustl.edu	37	4	185616499	185616499	+	IGR	SNP	G	G	C			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr4:185616499G>C	ENST00000314970.6	+	0	2289				MLF1IP_ENST00000281453.5_Silent_p.A400A|MLF1IP_ENST00000506535.1_5'Flank	NM_152683.2	NP_689896	Q96LW4	PRIPO_HUMAN	primase and polymerase (DNA-directed)						mitochondrial DNA replication (GO:0006264)|replication fork processing (GO:0031297)|response to UV (GO:0009411)|translesion synthesis (GO:0019985)	mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA primase activity (GO:0003896)|DNA-directed DNA polymerase activity (GO:0003887)|manganese ion binding (GO:0030145)	p.A400A(1)									GATGGCTTTCGGCTCCCAGAA	0.388																																																1	Substitution - coding silent(1)	large_intestine(1)	4											149.0	158.0	155.0					4																	185616499		2203	4300	6503	185853493	SO:0001628	intergenic_variant	79682			AK057729	CCDS3837.1, CCDS75211.1, CCDS75212.1	4q35.1	2013-09-27	2013-09-27	2013-09-27	ENSG00000164306	ENSG00000164306			26575	protein-coding gene	gene with protein product		615421	"""coiled-coil domain containing 111"""	CCDC111		12477932	Standard	XM_005262814		Approved	FLJ33167	uc003iwk.2	Q96LW4	OTTHUMG00000160495		4.37:g.185616499G>C			185853493	D3DP55|D6RDM1|Q5HYJ9	Silent	SNP	NULL	p.A400	ENST00000314970.6	37	c.1200	CCDS3837.1	4																																																																																			-	NULL		0.388	PRIMPOL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLF1IP	protein_coding	OTTHUMT00000360827.1	G	NM_152683		185853493	-1	no_errors	NM_024629	genbank	human	validated	54_36p	silent	SNP	0.256	C
NGEF	25791	genome.wustl.edu	37	2	233791839	233791839	+	Silent	SNP	G	G	A			TCGA-23-2643-01A-01D-1526-09	TCGA-23-2643-10A-01D-1526-09	G	G					Unknown	Unknown	Somatic	4	Capture	none	1	dbGAP	Illumina GAIIx	91bb7ed6-82bd-4a6f-b10d-cbda2ef56ef9	27491c94-d3bf-4000-832b-63700f6a506d	g.chr2:233791839G>A	ENST00000264051.3	-	4	719	c.441C>T	c.(439-441)gcC>gcT	p.A147A	NGEF_ENST00000373552.4_Silent_p.A55A|NGEF_ENST00000409079.1_Silent_p.A55A	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	147	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42. {ECO:0000250}.			A -> T (in Ref. 4; CAC00686). {ECO:0000305}.	apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TGGGGCTGTCGGCCAGGGCCG	0.632																																																0			2											29.0	34.0	33.0					2																	233791839		2201	4299	6500	233500083	SO:0001819	synonymous_variant	25791			AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.441C>T	2.37:g.233791839G>A			233500083	B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Silent	SNP	superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,superfamily_SH3-domain,HMMPfam_SH3_1,HMMSmart_SM00326	p.A147	ENST00000264051.3	37	c.441	CCDS2500.1	2																																																																																			-	NULL		0.632	NGEF-001	KNOWN	basic|CCDS	protein_coding	NGEF	protein_coding	OTTHUMT00000257051.2	G	XM_044799		233500083	-1	no_errors	NM_019850	genbank	human	validated	54_36p	silent	SNP	0.907	A
