#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ACTR5	79913	genome.wustl.edu	37	20	37400366	37400366	+	Silent	SNP	C	C	T			TCGA-AC-A3YJ-01A-11D-A22X-09	TCGA-AC-A3YJ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fecea7a-e8f4-4d95-bcd6-52cf363104e7	aee3b032-58c1-4ba5-ae5f-9008ca914a5b	g.chr20:37400366C>T	ENST00000243903.4	+	9	1768	c.1731C>T	c.(1729-1731)atC>atT	p.I577I		NM_024855.3	NP_079131.3	Q9H9F9	ARP5_HUMAN	ARP5 actin-related protein 5 homolog (yeast)	577					DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|UV-damage excision repair (GO:0070914)	cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleus (GO:0005634)				kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				ATGTCCCCATCCGCCTGCCGA	0.562																																						dbGAP											0													49.0	43.0	45.0					20																	37400366		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK022847	CCDS13308.1	20q12	2011-07-06	2001-11-28		ENSG00000101442	ENSG00000101442		"""INO80 complex subunits"""	14671	protein-coding gene	gene with protein product	"""INO80 complex subunit M"""		"""ARP5 (actin-related protein 5, yeast) homolog"""			16230350	Standard	NM_024855		Approved	FLJ12785, Arp5, INO80M	uc002xjd.2	Q9H9F9	OTTHUMG00000032456	ENST00000243903.4:c.1731C>T	20.37:g.37400366C>T			Q86WF7|Q8IUY5|Q8N724|Q9BRN0|Q9BVB7	Silent	SNP	pfam_Actin-like,smart_Actin-like	p.I577	ENST00000243903.4	37	c.1731	CCDS13308.1	20																																																																																			ACTR5	-	NULL	ENSG00000101442		0.562	ACTR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTR5	HGNC	protein_coding	OTTHUMT00000079205.2	89	0.00	0	C	NM_024855		37400366	37400366	+1	no_errors	ENST00000243903	ensembl	human	known	69_37n	silent	39	36.07	22	SNP	1.000	T
ATXN3L	92552	genome.wustl.edu	37	X	13337899	13337899	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A3YJ-01A-11D-A22X-09	TCGA-AC-A3YJ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fecea7a-e8f4-4d95-bcd6-52cf363104e7	aee3b032-58c1-4ba5-ae5f-9008ca914a5b	g.chrX:13337899C>T	ENST00000380622.2	-	1	619	c.155G>A	c.(154-156)gGa>gAa	p.G52E	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	52	Josephin. {ECO:0000255|PROSITE- ProRule:PRU00331}.				protein deubiquitination (GO:0016579)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	omega peptidase activity (GO:0008242)|ubiquitin-specific protease activity (GO:0004843)			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						ACTGGTGACTCCTCCTTCTGC	0.418																																						dbGAP											0													224.0	186.0	197.0					X																	13337899		1568	3582	5150	-	-	-	SO:0001583	missense	0				CCDS48080.1	Xp22	2010-09-30			ENSG00000123594	ENSG00000123594			24173	protein-coding gene	gene with protein product		300920					Standard	NM_001135995		Approved	MJDL	uc010ned.3	Q9H3M9	OTTHUMG00000021146	ENST00000380622.2:c.155G>A	X.37:g.13337899C>T	ENSP00000369996:p.Gly52Glu		B2RNY8	Missense_Mutation	SNP	pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Josephin,pfscan_Ubiquitin-int_motif,prints_Josephin	p.G52E	ENST00000380622.2	37	c.155	CCDS48080.1	X	.	.	.	.	.	.	.	.	.	.	C	18.15	3.561004	0.65538	.	.	ENSG00000123594	ENST00000380622	T	0.19938	2.11	0.943	0.943	0.19531	.	0.000000	0.85682	D	0.000000	T	0.42359	0.1199	M	0.83852	2.665	0.47621	D	0.999475	D	0.76494	0.999	D	0.72625	0.978	T	0.38308	-0.9667	10	0.87932	D	0	.	7.4471	0.27217	0.0:1.0:0.0:0.0	.	52	Q9H3M9	ATX3L_HUMAN	E	52	ENSP00000369996:G52E	ENSP00000369996:G52E	G	-	2	0	ATXN3L	13247820	1.000000	0.71417	0.127000	0.21898	0.633000	0.38033	3.261000	0.51530	0.740000	0.32651	0.422000	0.28245	GGA	ATXN3L	-	pfam_Josephin,pfscan_Josephin,prints_Josephin	ENSG00000123594		0.418	ATXN3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN3L	HGNC	protein_coding	OTTHUMT00000055785.2	67	0.00	0	C	NM_001135995		13337899	13337899	-1	no_errors	ENST00000380622	ensembl	human	known	69_37n	missense	30	47.37	27	SNP	0.999	T
C11orf95	65998	genome.wustl.edu	37	11	63533672	63533672	+	lincRNA	SNP	C	C	A			TCGA-AC-A3YJ-01A-11D-A22X-09	TCGA-AC-A3YJ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fecea7a-e8f4-4d95-bcd6-52cf363104e7	aee3b032-58c1-4ba5-ae5f-9008ca914a5b	g.chr11:63533672C>A	ENST00000546282.2	-	0	738				C11orf95_ENST00000433688.1_lincRNA																							TCACAGTGGTCTGAATATTTC	0.652																																						dbGAP											0													29.0	31.0	31.0					11																	63533672		692	1591	2283	-	-	-			0																															11.37:g.63533672C>A				RNA	SNP	-	NULL	ENST00000546282.2	37	NULL		11																																																																																			C11orf95	-	-	ENSG00000188070		0.652	RP11-466C23.4-001	KNOWN	basic	lincRNA	C11orf95	HGNC	lincRNA	OTTHUMT00000396567.2	63	0.00	0	C			63533672	63533672	-1	no_errors	ENST00000433688	ensembl	human	known	69_37n	rna	33	29.79	14	SNP	1.000	A
C20orf27	54976	genome.wustl.edu	37	20	3736174	3736174	+	Silent	SNP	G	G	A	rs543589017		TCGA-AC-A3YJ-01A-11D-A22X-09	TCGA-AC-A3YJ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fecea7a-e8f4-4d95-bcd6-52cf363104e7	aee3b032-58c1-4ba5-ae5f-9008ca914a5b	g.chr20:3736174G>A	ENST00000379772.3	-	4	1053	c.243C>T	c.(241-243)cgC>cgT	p.R81R	C20orf27_ENST00000217195.8_Silent_p.R106R	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN	chromosome 20 open reading frame 27	81										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						CAGGTGCCTCGCGGACATCCT	0.622																																						dbGAP											0													78.0	63.0	68.0					20																	3736174		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK000557	CCDS33436.1, CCDS58763.1	20p13	2011-01-25			ENSG00000101220	ENSG00000101220			15873	protein-coding gene	gene with protein product	"""hypothetical protein LOC54976"""					11780052	Standard	NM_001258429		Approved	FLJ20550	uc002wjh.2	Q9GZN8	OTTHUMG00000031753	ENST00000379772.3:c.243C>T	20.37:g.3736174G>A			A8K4J0|D3DVX8|Q5JX81|Q9NWX3	Missense_Mutation	SNP	NULL	p.A75V	ENST00000379772.3	37	c.224	CCDS58763.1	20	.	.	.	.	.	.	.	.	.	.	G	5.717	0.316744	0.10845	.	.	ENSG00000101220	ENST00000399683	.	.	.	4.15	-8.3	0.01005	.	.	.	.	.	T	0.29158	0.0725	.	.	.	0.32949	D	0.519521	.	.	.	.	.	.	T	0.22452	-1.0216	4	.	.	.	-1.3339	4.1291	0.10141	0.2662:0.1288:0.4967:0.1083	.	.	.	.	V	75	.	.	A	-	2	0	C20orf27	3684174	0.100000	0.21855	0.001000	0.08648	0.653000	0.38743	-0.774000	0.04684	-2.448000	0.00545	-1.134000	0.01955	GCG	C20orf27	-	NULL	ENSG00000101220		0.622	C20orf27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf27	HGNC	protein_coding	OTTHUMT00000077750.2	80	0.00	0	G	NM_001039140		3736174	3736174	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000399683	ensembl	human	known	69_37n	missense	38	24.00	12	SNP	0.038	A
CACNA1G	8913	genome.wustl.edu	37	17	48701409	48701409	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A3YJ-01A-11D-A22X-09	TCGA-AC-A3YJ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fecea7a-e8f4-4d95-bcd6-52cf363104e7	aee3b032-58c1-4ba5-ae5f-9008ca914a5b	g.chr17:48701409G>A	ENST00000359106.5	+	36	6202	c.6202G>A	c.(6202-6204)Ggc>Agc	p.G2068S	CACNA1G_ENST00000507336.1_Missense_Mutation_p.G2057S|CACNA1G_ENST00000512389.1_Missense_Mutation_p.G1964S|CACNA1G_ENST00000514717.1_Missense_Mutation_p.G1918S|CACNA1G_ENST00000503485.1_Missense_Mutation_p.G1941S|CTB-22K21.2_ENST00000502435.1_RNA|CACNA1G_ENST00000514079.1_Missense_Mutation_p.G1982S|CACNA1G_ENST00000515165.1_Missense_Mutation_p.G1975S|CACNA1G_ENST00000513964.1_Missense_Mutation_p.G1930S|CACNA1G_ENST00000515411.1_Missense_Mutation_p.G2005S|CACNA1G_ENST00000507609.1_Missense_Mutation_p.G1968S|CACNA1G_ENST00000513689.2_Missense_Mutation_p.G1978S|CACNA1G_ENST00000429973.2_Missense_Mutation_p.G1957S|CACNA1G_ENST00000354983.4_Missense_Mutation_p.G2034S|CACNA1G_ENST00000502264.1_Missense_Mutation_p.G1997S|CACNA1G_ENST00000360761.4_Missense_Mutation_p.G1952S|CACNA1G_ENST00000358244.5_Missense_Mutation_p.G1941S|CACNA1G_ENST00000515765.1_Missense_Mutation_p.G2012S|CACNA1G_ENST00000507510.2_Missense_Mutation_p.G2023S|CACNA1G_ENST00000510366.1_Missense_Mutation_p.G1923S|CACNA1G_ENST00000510115.1_Missense_Mutation_p.G1989S|CACNA1G_ENST00000514181.1_Missense_Mutation_p.G1950S|CACNA1G_ENST00000507896.1_Missense_Mutation_p.G1964S|CACNA1G_ENST00000442258.2_Missense_Mutation_p.G1934S|CACNA1G_ENST00000352832.5_Missense_Mutation_p.G1941S|CACNA1G_ENST00000505165.1_Missense_Mutation_p.G1975S	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2068					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGGACACAGGGGCTGGGGGCT	0.617																																						dbGAP											0													38.0	42.0	40.0					17																	48701409		1897	4111	6008	-	-	-	SO:0001583	missense	0			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.6202G>A	17.37:g.48701409G>A	ENSP00000352011:p.Gly2068Ser		D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.G2068S	ENST00000359106.5	37	c.6202	CCDS45730.1	17	.	.	.	.	.	.	.	.	.	.	g	5.655	0.305514	0.10678	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.96334	-3.88;-3.88;-3.82;-3.88;-3.89;-3.9;-3.98;-3.95;-3.94;-3.97;-3.86;-3.84;-3.94;-3.86;-3.83;-3.9;-3.86;-3.86;-3.9;-3.88;-3.84;-3.9;-3.86;-3.9;-3.9	5.17	-1.71	0.08133	.	2.442690	0.01189	N	0.007299	D	0.91499	0.7316	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.06786	0.001;0.0;0.0;0.001;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.0;0.001;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.10450	0.004;0.001;0.003;0.005;0.001;0.003;0.005;0.001;0.005;0.0;0.0;0.003;0.001;0.001;0.005;0.001;0.002;0.001;0.001;0.0;0.004;0.0;0.001;0.001;0.0	D	0.83467	0.0057	10	0.09084	T	0.74	.	10.3855	0.44136	0.7116:0.0:0.2884:0.0	.	1918;1930;1923;2005;1978;1950;1982;1941;1968;1964;1975;1997;1964;2057;1957;2012;1975;2045;2023;1941;1934;1989;1952;2068;1941	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.	S	1952;1941;2034;1934;1997;1964;1930;1918;1923;1941;2023;2057;1978;1968;1989;1975;1950;2012;1982;1941;2068;1957;2005;1975;1964	ENSP00000353990:G1952S;ENSP00000339302:G1941S;ENSP00000347078:G2034S;ENSP00000409759:G1934S;ENSP00000425522:G1997S;ENSP00000426261:G1964S;ENSP00000425451:G1930S;ENSP00000422407:G1918S;ENSP00000426814:G1923S;ENSP00000427238:G1941S;ENSP00000423112:G2023S;ENSP00000420918:G2057S;ENSP00000426172:G1978S;ENSP00000423045:G1968S;ENSP00000427173:G1989S;ENSP00000426098:G1975S;ENSP00000425698:G1950S;ENSP00000426232:G2012S;ENSP00000423317:G1982S;ENSP00000350979:G1941S;ENSP00000352011:G2068S;ENSP00000414388:G1957S;ENSP00000423155:G2005S;ENSP00000422268:G1975S;ENSP00000421518:G1964S	ENSP00000339302:G1941S	G	+	1	0	CACNA1G	46056408	0.147000	0.22687	0.689000	0.30133	0.434000	0.31775	0.437000	0.21543	-0.054000	0.13266	0.555000	0.69702	GGC	CACNA1G	-	NULL	ENSG00000006283		0.617	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1	72	0.00	0	G	NM_018896		48701409	48701409	+1	no_errors	ENST00000359106	ensembl	human	known	69_37n	missense	25	37.50	15	SNP	0.002	A
CACNA2D3	55799	genome.wustl.edu	37	3	54604012	54604012	+	Missense_Mutation	SNP	G	G	T	rs372465588		TCGA-AC-A3YJ-01A-11D-A22X-09	TCGA-AC-A3YJ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fecea7a-e8f4-4d95-bcd6-52cf363104e7	aee3b032-58c1-4ba5-ae5f-9008ca914a5b	g.chr3:54604012G>T	ENST00000474759.1	+	8	817	c.769G>T	c.(769-771)Gtg>Ttg	p.V257L	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.V257L|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.V257L|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.V163L	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	257	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.					integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	TCCGAAAGACGTGGTCATTTT	0.428																																						dbGAP											0													143.0	134.0	137.0					3																	54604012		1967	4168	6135	-	-	-	SO:0001583	missense	0			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.769G>T	3.37:g.54604012G>T	ENSP00000419101:p.Val257Leu		B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.V257L	ENST00000474759.1	37	c.769	CCDS54598.1	3	.	.	.	.	.	.	.	.	.	.	G	16.99	3.273741	0.59649	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624;ENST00000438476	T;T;T;T	0.13196	2.61;2.61;2.61;2.61	5.4	5.4	0.78164	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	T	0.12135	0.0295	L	0.31120	0.905	0.46279	D	0.998965	B	0.25007	0.116	B	0.28011	0.085	T	0.06881	-1.0802	10	0.42905	T	0.14	.	12.8462	0.57831	0.0746:0.0:0.9253:0.0	.	257	Q8IZS8	CA2D3_HUMAN	L	257;257;257;163;163;162	ENSP00000389506:V257L;ENSP00000419101:V257L;ENSP00000288197:V257L;ENSP00000417279:V163L	ENSP00000288197:V257L	V	+	1	0	CACNA2D3	54579052	1.000000	0.71417	0.999000	0.59377	0.967000	0.64934	6.677000	0.74503	2.705000	0.92388	0.650000	0.86243	GTG	CACNA2D3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000157445		0.428	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA2D3	HGNC	protein_coding	OTTHUMT00000351402.1	42	0.00	0	G			54604012	54604012	+1	no_errors	ENST00000288197	ensembl	human	known	69_37n	missense	34	10.53	4	SNP	1.000	T
CDH23	64072	genome.wustl.edu	37	10	73545397	73545397	+	Missense_Mutation	SNP	G	G	A	rs368828743	byFrequency	TCGA-AC-A3YJ-01A-11D-A22X-09	TCGA-AC-A3YJ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fecea7a-e8f4-4d95-bcd6-52cf363104e7	aee3b032-58c1-4ba5-ae5f-9008ca914a5b	g.chr10:73545397G>A	ENST00000224721.6	+	43	5742	c.5737G>A	c.(5737-5739)Gtc>Atc	p.V1913I		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1908	Cadherin 18. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GACAGGGATCGTCACTGTGAA	0.582													G|||	2	0.000399361	0.0	0.0	5008	,	,		20830	0.002		0.0	False		,,,				2504	0.0					dbGAP											0													41.0	48.0	46.0					10																	73545397		2103	4213	6316	-	-	-	SO:0001583	missense	0			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.5737G>A	10.37:g.73545397G>A	ENSP00000224721:p.Val1913Ile		C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V1911I	ENST00000224721.6	37	c.5731		10	.	.	.	.	.	.	.	.	.	.	G	11.31	1.601360	0.28534	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	5.2	-0.778	0.10977	Cadherin (4);Cadherin-like (1);	0.397421	0.25060	N	0.033452	T	0.21186	0.0510	N	0.02266	-0.62	0.80722	D	1	B	0.18461	0.028	B	0.24006	0.05	T	0.36504	-0.9745	9	0.02654	T	1	.	12.3907	0.55356	0.4743:0.0:0.5257:0.0	.	1908	Q9H251	CAD23_HUMAN	I	1913;1908;1911	.	ENSP00000224721:V1913I	V	+	1	0	CDH23	73215403	0.405000	0.25336	0.957000	0.39632	0.961000	0.63080	0.674000	0.25218	-0.049000	0.13379	-0.380000	0.06706	GTC	CDH23	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000107736		0.582	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000051227.4	37	0.00	0	G	NM_052836		73545397	73545397	+1	no_errors	ENST00000224721	ensembl	human	known	69_37n	missense	19	26.92	7	SNP	0.655	A
CFHR3	10878	genome.wustl.edu	37	1	196748946	196748946	+	Frame_Shift_Del	DEL	T	T	-			TCGA-AC-A3YJ-01A-11D-A22X-09	TCGA-AC-A3YJ-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fecea7a-e8f4-4d95-bcd6-52cf363104e7	aee3b032-58c1-4ba5-ae5f-9008ca914a5b	g.chr1:196748946delT	ENST00000367425.4	+	3	365	c.273delT	c.(271-273)tatfs	p.Y91fs	CFHR3_ENST00000471440.2_Frame_Shift_Del_p.Y91fs|CFHR3_ENST00000391985.3_Frame_Shift_Del_p.Y91fs	NM_021023.5	NP_066303.2	Q02985	FHR3_HUMAN	complement factor H-related 3	91	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.					blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						ATTTTCCTTATTTGGAAAATG	0.308																																						dbGAP											0													23.0	29.0	28.0					1																	196748946		1939	4136	6075	-	-	-	SO:0001589	frameshift_variant	0			X68679	CCDS30958.1, CCDS53453.1	1q32	2014-09-17		2006-02-28	ENSG00000116785	ENSG00000116785		"""Complement system"""	16980	protein-coding gene	gene with protein product	"""complement factor H related 3"""	605336		CFHL3		8428964, 10380701	Standard	NM_021023		Approved	FHR-3, HLF4, FHR3, DOWN16	uc001gtl.3	Q02985	OTTHUMG00000035929	ENST00000367425.4:c.273delT	1.37:g.196748946delT	ENSP00000356395:p.Tyr91fs		B4DPR0|Q9UJ16	Frame_Shift_Del	DEL	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.L92fs	ENST00000367425.4	37	c.273	CCDS30958.1	1																																																																																			CFHR3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000116785		0.308	CFHR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFHR3	HGNC	protein_coding	OTTHUMT00000087505.2	47	0.00	0	T	NM_021023		196748946	196748946	+1	no_errors	ENST00000367425	ensembl	human	known	69_37n	frame_shift_del	60	11.76	8	DEL	0.002	-
COPA	1314	genome.wustl.edu	37	1	160280027	160280027	+	Silent	SNP	G	G	A			TCGA-AC-A3YJ-01A-11D-A22X-09	TCGA-AC-A3YJ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fecea7a-e8f4-4d95-bcd6-52cf363104e7	aee3b032-58c1-4ba5-ae5f-9008ca914a5b	g.chr1:160280027G>A	ENST00000241704.7	-	12	1327	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	COPA_ENST00000368069.3_Silent_p.F366F	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	366					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATGACATATTGAATACTGGAA	0.413																																						dbGAP											0													125.0	130.0	128.0					1																	160280027		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.1098C>T	1.37:g.160280027G>A			Q5T201|Q8IXZ9	Silent	SNP	pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F366	ENST00000241704.7	37	c.1098	CCDS1202.1	1																																																																																			COPA	-	pfam_Coatomer_WD-assoc_reg,pirsf_Coatomer_asu	ENSG00000122218		0.413	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COPA	HGNC	protein_coding	OTTHUMT00000080638.1	43	0.00	0	G	NM_004371		160280027	160280027	-1	no_errors	ENST00000368069	ensembl	human	known	69_37n	silent	39	26.42	14	SNP	1.000	A
COPA	1314	genome.wustl.edu	37	1	160280035	160280035	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A3YJ-01A-11D-A22X-09	TCGA-AC-A3YJ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fecea7a-e8f4-4d95-bcd6-52cf363104e7	aee3b032-58c1-4ba5-ae5f-9008ca914a5b	g.chr1:160280035G>A	ENST00000241704.7	-	12	1319	c.1090C>T	c.(1090-1092)Cca>Tca	p.P364S	COPA_ENST00000368069.3_Missense_Mutation_p.P364S	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	364					COPI coating of Golgi vesicle (GO:0048205)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|pancreatic juice secretion (GO:0030157)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTGAATACTGGAAACTTGGAA	0.413																																						dbGAP											0													118.0	124.0	122.0					1																	160280035		2203	4300	6503	-	-	-	SO:0001583	missense	0			U24105	CCDS1202.1, CCDS41424.1	1q23.2	2014-01-30			ENSG00000122218	ENSG00000122218		"""WD repeat domain containing"", ""Endogenous ligands"""	2230	protein-coding gene	gene with protein product	"""proxenin"", ""xenin"""	601924				8647451	Standard	NM_004371		Approved	HEP-COP	uc001fvv.4	P53621	OTTHUMG00000033111	ENST00000241704.7:c.1090C>T	1.37:g.160280035G>A	ENSP00000241704:p.Pro364Ser		Q5T201|Q8IXZ9	Missense_Mutation	SNP	pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P364S	ENST00000241704.7	37	c.1090	CCDS1202.1	1	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711373	0.48517	.	.	ENSG00000122218	ENST00000368069;ENST00000241704	T;T	0.63417	2.61;-0.04	4.94	4.01	0.46588	Coatomer, WD associated region (1);	0.000000	0.85682	D	0.000000	T	0.49508	0.1561	M	0.79011	2.435	0.80722	D	1	B;B	0.20368	0.009;0.044	B;B	0.22386	0.023;0.039	T	0.54569	-0.8274	10	0.36615	T	0.2	-9.4057	14.0126	0.64507	0.0:0.1528:0.8472:0.0	.	364;364	P53621;P53621-2	COPA_HUMAN;.	S	364	ENSP00000357048:P364S;ENSP00000241704:P364S	ENSP00000241704:P364S	P	-	1	0	COPA	158546659	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	9.077000	0.94016	1.279000	0.44446	-0.282000	0.10007	CCA	COPA	-	pfam_Coatomer_WD-assoc_reg,pirsf_Coatomer_asu	ENSG00000122218		0.413	COPA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COPA	HGNC	protein_coding	OTTHUMT00000080638.1	40	0.00	0	G	NM_004371		160280035	160280035	-1	no_errors	ENST00000368069	ensembl	human	known	69_37n	missense	40	24.53	13	SNP	1.000	A
DXO	1797	genome.wustl.edu	37	6	31938577	31938577	+	Silent	SNP	G	G	A			TCGA-AC-A3YJ-01A-11D-A22X-09	TCGA-AC-A3YJ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fecea7a-e8f4-4d95-bcd6-52cf363104e7	aee3b032-58c1-4ba5-ae5f-9008ca914a5b	g.chr6:31938577G>A	ENST00000375349.3	-	4	1029	c.618C>T	c.(616-618)ccC>ccT	p.P206P	DXO_ENST00000375356.3_Silent_p.P206P|DXO_ENST00000478221.1_Intron|DXO_ENST00000337523.5_Silent_p.P206P|STK19_ENST00000375331.2_5'Flank|STK19_ENST00000375333.2_5'Flank			O77932	DXO_HUMAN	decapping exoribonuclease	206					metabolic process (GO:0008152)|mRNA catabolic process (GO:0006402)|nuclear mRNA surveillance (GO:0071028)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|RNA destabilization (GO:0050779)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|magnesium ion binding (GO:0000287)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|RNA pyrophosphohydrolase activity (GO:0034353)										CCTCCCCAGAGGGGTCTGGGG	0.617																																						dbGAP											0													30.0	34.0	32.0					6																	31938577		1510	2709	4219	-	-	-	SO:0001819	synonymous_variant	0			AF059252	CCDS4732.1	6p21.3	2013-09-11	2013-09-11	2013-09-11	ENSG00000204348	ENSG00000204348			2992	protein-coding gene	gene with protein product		605996	"""DOM-3 (C. elegans) homolog Z"", ""dom-3 homolog Z (C. elegans)"""	DOM3Z		9799600, 23523372	Standard	NM_005510		Approved		uc003nyp.1	O77932	OTTHUMG00000031272	ENST00000375349.3:c.618C>T	6.37:g.31938577G>A			A2CER3|B0UZ80|O15004|O78127|O78128|Q5ST60|Q6IPZ2|Q9NPK4	Missense_Mutation	SNP	pfam_RAI1	p.P13L	ENST00000375349.3	37	c.38	CCDS4732.1	6	.	.	.	.	.	.	.	.	.	.	G	8.309	0.821604	0.16678	.	.	ENSG00000204348	ENST00000495340	T	0.32272	1.46	4.84	-1.83	0.07833	.	0.055388	0.64402	D	0.000001	T	0.12817	0.0311	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	T	0.15665	-1.0429	7	0.41790	T	0.15	-20.8296	1.5924	0.02656	0.4118:0.2409:0.2242:0.1231	.	.	.	.	L	13	ENSP00000419588:P13L	ENSP00000419588:P13L	P	-	2	0	DOM3Z	32046556	0.470000	0.25854	0.992000	0.48379	0.991000	0.79684	-0.453000	0.06778	-0.238000	0.09724	0.561000	0.74099	CCT	DOM3Z	-	NULL	ENSG00000204348		0.617	DXO-006	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	DOM3Z	HGNC	protein_coding	OTTHUMT00000076592.3	38	0.00	0	G			31938577	31938577	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000495340	ensembl	human	novel	69_37n	missense	30	21.05	8	SNP	0.062	A
ERCC8	1161	genome.wustl.edu	37	5	60170337	60170337	+	3'UTR	SNP	A	A	G	rs3117	byFrequency	TCGA-AC-A3YJ-01A-11D-A22X-09	TCGA-AC-A3YJ-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fecea7a-e8f4-4d95-bcd6-52cf363104e7	aee3b032-58c1-4ba5-ae5f-9008ca914a5b	g.chr5:60170337A>G	ENST00000265038.5	-	0	1338				ERCC8_ENST00000543101.1_3'UTR|ERCC8_ENST00000426742.2_3'UTR|ERCC8_ENST00000462279.1_5'UTR	NM_000082.3	NP_000073.1	Q13216	ERCC8_HUMAN	excision repair cross-complementation group 8						cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|positive regulation of DNA repair (GO:0045739)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|response to oxidative stress (GO:0006979)|response to UV (GO:0009411)|response to X-ray (GO:0010165)|transcription-coupled nucleotide-excision repair (GO:0006283)	Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)|protein complex (GO:0043234)	protein complex binding (GO:0032403)			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				AATATTACCCACATTTAGGGC	0.303													A|||	1536	0.306709	0.3926	0.3026	5008	,	,		18946	0.0516		0.4304	False		,,,				2504	0.3292					dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			U28413	CCDS3978.1	5q12.1	2014-09-17	2014-03-07		ENSG00000049167	ENSG00000049167		"""WD repeat domain containing"""	3439	protein-coding gene	gene with protein product		609412	"""Cockayne syndrome 1 (classical)"", ""excision repair cross-complementing rodent repair deficiency, complementation group 8"""	CKN1		8596535	Standard	NM_000082		Approved	CSA	uc003jsm.3	Q13216	OTTHUMG00000097741	ENST00000265038.5:c.*105T>C	5.37:g.60170337A>G			B2RB64|Q6FHX5|Q96GB9	RNA	SNP	-	NULL	ENST00000265038.5	37	NULL	CCDS3978.1	5																																																																																			ERCC8	-	-	ENSG00000049167		0.303	ERCC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERCC8	HGNC	protein_coding	OTTHUMT00000214971.2	59	0.00	0	A	NM_000082		60170337	60170337	-1	no_errors	ENST00000462279	ensembl	human	known	69_37n	rna	29	12.12	4	SNP	0.000	G
FAM195B	348262	genome.wustl.edu	37	17	79781072	79781072	+	3'UTR	SNP	C	C	T			TCGA-AC-A3YJ-01A-11D-A22X-09	TCGA-AC-A3YJ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fecea7a-e8f4-4d95-bcd6-52cf363104e7	aee3b032-58c1-4ba5-ae5f-9008ca914a5b	g.chr17:79781072C>T	ENST00000574190.1	-	0	2032				FAM195B_ENST00000575090.1_5'UTR|FAM195B_ENST00000576431.1_3'UTR|FAM195B_ENST00000576679.1_3'UTR|FAM195B_ENST00000575061.1_3'UTR|AC174470.1_ENST00000457257.1_Intron|FAM195B_ENST00000538396.1_Intron|FAM195B_ENST00000455127.2_3'UTR|FAM195B_ENST00000573478.1_3'UTR|FAM195B_ENST00000576730.1_Intron|FAM195B_ENST00000570507.1_3'UTR|FAM195B_ENST00000572645.1_Intron			C9JLW8	F195B_HUMAN	family with sequence similarity 195, member B																		AGGAGGGAACCGACACCTCGC	0.677																																						dbGAP											0													21.0	26.0	25.0					17																	79781072		692	1591	2283	-	-	-	SO:0001624	3_prime_UTR_variant	0				CCDS45814.1, CCDS74178.1, CCDS74179.1	17q25.3	2010-02-17			ENSG00000225663	ENSG00000225663			28007	protein-coding gene	gene with protein product							Standard	NM_001093767		Approved		uc010wuz.1	C9JLW8		ENST00000574190.1:c.*51G>A	17.37:g.79781072C>T			Q6ZUL0	RNA	SNP	-	NULL	ENST00000574190.1	37	NULL	CCDS45814.1	17																																																																																			FAM195B	-	-	ENSG00000225663		0.677	FAM195B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	FAM195B	HGNC	protein_coding	OTTHUMT00000439686.1	106	0.92	1	C	NM_001093767		79781072	79781072	-1	no_errors	ENST00000575090	ensembl	human	putative	69_37n	rna	30	37.50	18	SNP	0.025	T
LCT	3938	genome.wustl.edu	37	2	136570331	136570331	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A3YJ-01A-11D-A22X-09	TCGA-AC-A3YJ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fecea7a-e8f4-4d95-bcd6-52cf363104e7	aee3b032-58c1-4ba5-ae5f-9008ca914a5b	g.chr2:136570331C>T	ENST00000264162.2	-	7	1913	c.1903G>A	c.(1903-1905)Gtc>Atc	p.V635I	Y_RNA_ENST00000363794.1_RNA	NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	635	4 X approximate repeats.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	glycosylceramidase activity (GO:0017042)|lactase activity (GO:0000016)			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)	Vitamin C(DB00126)	TCCACAAAGACGGGGTGTGCA	0.577																																						dbGAP											0													100.0	86.0	91.0					2																	136570331		2203	4300	6503	-	-	-	SO:0001583	missense	0			X07994	CCDS2178.1	2q21	2014-09-17			ENSG00000115850	ENSG00000115850	3.2.1.108, 3.2.1.62		6530	protein-coding gene	gene with protein product		603202					Standard	NM_002299		Approved		uc002tuu.1	P09848	OTTHUMG00000131738	ENST00000264162.2:c.1903G>A	2.37:g.136570331C>T	ENSP00000264162:p.Val635Ile		Q4ZG58	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.V635I	ENST00000264162.2	37	c.1903	CCDS2178.1	2	.	.	.	.	.	.	.	.	.	.	c	0.269	-0.994517	0.02145	.	.	ENSG00000115850	ENST00000264162;ENST00000455227	T	0.49139	0.79	5.49	3.2	0.36748	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.456697	0.23302	N	0.049673	T	0.13713	0.0332	N	0.00750	-1.22	0.21020	N	0.999808	B	0.06786	0.001	B	0.08055	0.003	T	0.32587	-0.9901	10	0.02654	T	1	-20.7357	8.1813	0.31313	0.0:0.1444:0.14:0.7155	.	635	P09848	LPH_HUMAN	I	635;67	ENSP00000264162:V635I	ENSP00000264162:V635I	V	-	1	0	LCT	136286801	0.479000	0.25925	0.998000	0.56505	0.569000	0.35902	0.670000	0.25157	0.914000	0.36822	-0.285000	0.09966	GTC	LCT	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF	ENSG00000115850		0.577	LCT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LCT	HGNC	protein_coding	OTTHUMT00000254657.1	117	0.00	0	C	NM_002299		136570331	136570331	-1	no_errors	ENST00000264162	ensembl	human	known	69_37n	missense	52	42.22	38	SNP	0.722	T
LGI1	9211	genome.wustl.edu	37	10	95557106	95557106	+	Missense_Mutation	SNP	G	G	A	rs201376381	byFrequency	TCGA-AC-A3YJ-01A-11D-A22X-09	TCGA-AC-A3YJ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fecea7a-e8f4-4d95-bcd6-52cf363104e7	aee3b032-58c1-4ba5-ae5f-9008ca914a5b	g.chr10:95557106G>A	ENST00000371418.4	+	8	1480	c.1220G>A	c.(1219-1221)cGt>cAt	p.R407H	LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Missense_Mutation_p.R359H	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	407					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				AGTTCCCAGCGTCCTGTAATT	0.433													G|||	2	0.000399361	0.0	0.0	5008	,	,		20760	0.002		0.0	False		,,,				2504	0.0					dbGAP											0													107.0	95.0	99.0					10																	95557106		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"""epilepsy, partial"""	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.1220G>A	10.37:g.95557106G>A	ENSP00000360472:p.Arg407His		A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Missense_Mutation	SNP	pfam_EPTP,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.R407H	ENST00000371418.4	37	c.1220	CCDS7431.1	10	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.31	1.601257	0.28534	.	.	ENSG00000108231	ENST00000542308;ENST00000371418	D;D	0.89939	-2.59;-2.59	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	D	0.87128	0.6100	L	0.56769	1.78	0.58432	D	0.999998	B;B	0.24920	0.054;0.114	B;B	0.30572	0.017;0.117	D	0.84314	0.0512	10	0.42905	T	0.14	-7.4477	12.725	0.57166	0.0782:0.0:0.9218:0.0	.	359;407	O95970-3;O95970	.;LGI1_HUMAN	H	359;407	ENSP00000440763:R359H;ENSP00000360472:R407H	ENSP00000360472:R407H	R	+	2	0	LGI1	95547096	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.491000	0.66887	2.567000	0.86603	0.655000	0.94253	CGT	LGI1	-	pfam_EPTP,superfamily_WD40_repeat_dom	ENSG00000108231		0.433	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI1	HGNC	protein_coding	OTTHUMT00000049445.1	27	0.00	0	G	NM_005097		95557106	95557106	+1	no_errors	ENST00000371418	ensembl	human	known	69_37n	missense	12	47.83	11	SNP	1.000	A
MUC19	283463	genome.wustl.edu	37	12	40805978	40805978	+	5'UTR	SNP	C	C	A	rs200678879		TCGA-AC-A3YJ-01A-11D-A22X-09	TCGA-AC-A3YJ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fecea7a-e8f4-4d95-bcd6-52cf363104e7	aee3b032-58c1-4ba5-ae5f-9008ca914a5b	g.chr12:40805978C>A	ENST00000454784.4	+	0	303				RP11-115F18.1_ENST00000552757.1_RNA			Q7Z5P9	MUC19_HUMAN	mucin 19, oligomeric						cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				lung(2)	2						AGAAGACAGCCCAGCAGGTAC	0.403																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0			AY236870		12q12	2012-04-20	2006-03-14		ENSG00000205592	ENSG00000205592		"""Mucins"""	14362	protein-coding gene	gene with protein product		612170				12882755	Standard	NM_173600		Approved	FLJ35746	uc021qxa.1	Q7Z5P9	OTTHUMG00000060732	ENST00000454784.4:c.-431C>A	12.37:g.40805978C>A			Q8NA85	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_VWC_out,smart_Unchr_dom_Cys-rich	p.P84T	ENST00000454784.4	37	c.250		12	.	.	.	.	.	.	.	.	.	.	C	6.577	0.474762	0.12521	.	.	ENSG00000205592	ENST00000425730	.	.	.	2.88	0.903	0.19296	.	.	.	.	.	T	0.17959	0.0431	N	0.14661	0.345	0.09310	N	1	.	.	.	.	.	.	T	0.27706	-1.0066	6	0.18710	T	0.47	.	5.1811	0.15160	0.267:0.5169:0.216:0.0	.	.	.	.	T	84	.	ENSP00000395253:P84T	P	+	1	0	MUC19	39092245	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.004000	0.12878	0.219000	0.20840	-0.283000	0.09986	CCA	MUC19	-	NULL	ENSG00000205592		0.403	MUC19-001	NOVEL	non_canonical_conserved|non_canonical_genome_sequence_error|basic|appris_principal	protein_coding	MUC19	HGNC	protein_coding	OTTHUMT00000384257.6	48	0.00	0	C	XM_003403524		40805978	40805978	+1	no_stop_codon:bad_bp_length_for_coding_region	ENST00000425730	ensembl	human	novel	69_37n	missense	23	20.69	6	SNP	0.002	A
NASP	4678	genome.wustl.edu	37	1	46066130	46066130	+	Intron	SNP	G	G	T			TCGA-AC-A3YJ-01A-11D-A22X-09	TCGA-AC-A3YJ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fecea7a-e8f4-4d95-bcd6-52cf363104e7	aee3b032-58c1-4ba5-ae5f-9008ca914a5b	g.chr1:46066130G>T	ENST00000350030.3	+	3	194				NASP_ENST00000372052.4_Intron|NASP_ENST00000537798.1_Intron|NASP_ENST00000351223.3_Intron|NASP_ENST00000402363.3_Splice_Site	NM_002482.3	NP_002473.2	P49321	NASP_HUMAN	nuclear autoantigenic sperm protein (histone-binding)						blastocyst development (GO:0001824)|cell cycle (GO:0007049)|cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone exchange (GO:0043486)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	Hsp90 protein binding (GO:0051879)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	17	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.211)					gaatcatacagtaagtactgt	0.323																																						dbGAP											0													81.0	83.0	83.0					1																	46066130		1327	2308	3635	-	-	-	SO:0001627	intron_variant	0			M97856	CCDS524.1, CCDS525.1, CCDS55597.1	1p34.1	2013-01-10			ENSG00000132780	ENSG00000132780		"""Tetratricopeptide (TTC) repeat domain containing"""	7644	protein-coding gene	gene with protein product		603185				1426632	Standard	NM_002482		Approved	FLB7527, FLJ31599, FLJ35510, MGC19722, MGC20372, MGC2297, DKFZp547F162, PRO1999	uc001coi.2	P49321	OTTHUMG00000007826	ENST00000350030.3:c.108-1797G>T	1.37:g.46066130G>T			A8K6H2|B4DQP3|D3DQ07|F5H3J2|Q53GW5|Q5T622|Q5T625|Q96A69|Q9BTW2	Splice_Site	SNP	-	e2+1	ENST00000350030.3	37	c.113+1	CCDS524.1	1																																																																																			NASP	-	-	ENSG00000132780		0.323	NASP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NASP	HGNC	protein_coding	OTTHUMT00000021533.2	50	0.00	0	G	NM_002482		46066130	46066130	+1	no_errors	ENST00000402363	ensembl	human	known	69_37n	splice_site	28	12.50	4	SNP	0.896	T
NAV1	89796	genome.wustl.edu	37	1	201751394	201751394	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A3YJ-01A-11D-A22X-09	TCGA-AC-A3YJ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fecea7a-e8f4-4d95-bcd6-52cf363104e7	aee3b032-58c1-4ba5-ae5f-9008ca914a5b	g.chr1:201751394G>A	ENST00000367296.4	+	6	2174	c.1754G>A	c.(1753-1755)cGc>cAc	p.R585H	NAV1_ENST00000367295.1_Missense_Mutation_p.R194H|NAV1_ENST00000367297.4_Missense_Mutation_p.R585H|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367302.1_Missense_Mutation_p.R598H|NAV1_ENST00000367300.3_Missense_Mutation_p.R585H|NAV1_ENST00000295624.6_Missense_Mutation_p.R585H	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	585					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GGTCGGGACCGCCTGAGTGAT	0.587																																						dbGAP											0													79.0	83.0	82.0					1																	201751394		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.1754G>A	1.37:g.201751394G>A	ENSP00000356265:p.Arg585His		A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Missense_Mutation	SNP	smart_AAA+_ATPase	p.R585H	ENST00000367296.4	37	c.1754	CCDS1414.2	1	.	.	.	.	.	.	.	.	.	.	G	15.02	2.710396	0.48517	.	.	ENSG00000134369	ENST00000367302;ENST00000367296;ENST00000295624;ENST00000367297;ENST00000367300;ENST00000391966;ENST00000367295	T;T;T;T;T;T	0.46451	0.87;0.87;0.87;0.87;0.87;0.87	5.28	5.28	0.74379	.	0.050977	0.85682	D	0.000000	T	0.44117	0.1278	N	0.04508	-0.205	0.44660	D	0.997646	B;B;D;B	0.89917	0.064;0.058;1.0;0.01	B;B;D;B	0.79784	0.005;0.032;0.993;0.003	T	0.54583	-0.8272	10	0.39692	T	0.17	-27.9338	18.7035	0.91629	0.0:0.0:1.0:0.0	.	194;585;93;585	Q8NEY1-5;Q8NEY1;A8MYI2;Q8NEY1-3	.;NAV1_HUMAN;.;.	H	598;585;585;585;585;93;194	ENSP00000356271:R598H;ENSP00000356265:R585H;ENSP00000295624:R585H;ENSP00000356266:R585H;ENSP00000356269:R585H;ENSP00000356264:R194H	ENSP00000295624:R585H	R	+	2	0	NAV1	200018017	1.000000	0.71417	0.986000	0.45419	0.736000	0.42039	7.374000	0.79633	2.755000	0.94549	0.655000	0.94253	CGC	NAV1	-	NULL	ENSG00000134369		0.587	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAV1	HGNC	protein_coding	OTTHUMT00000087013.1	99	0.00	0	G	NM_020443		201751394	201751394	+1	no_errors	ENST00000367296	ensembl	human	known	69_37n	missense	84	11.46	11	SNP	0.994	A
PHF8	23133	genome.wustl.edu	37	X	54069225	54069225	+	Silent	SNP	C	C	T			TCGA-AC-A3YJ-01A-11D-A22X-09	TCGA-AC-A3YJ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fecea7a-e8f4-4d95-bcd6-52cf363104e7	aee3b032-58c1-4ba5-ae5f-9008ca914a5b	g.chrX:54069225C>T	ENST00000357988.5	-	2	403	c.45G>A	c.(43-45)ccG>ccA	p.P15P	PHF8_ENST00000338946.6_5'UTR|PHF8_ENST00000338154.6_5'UTR|PHF8_ENST00000462182.1_5'Flank|PHF8_ENST00000322659.8_5'UTR	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	15					brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GGGCGGGAGGCGGCAGCACGC	0.637											OREG0019805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0																																										-	-	-	SO:0001819	synonymous_variant	0			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.45G>A	X.37:g.54069225C>T		997	B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Silent	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.P15	ENST00000357988.5	37	c.45	CCDS55420.1	X																																																																																			PHF8	-	NULL	ENSG00000172943		0.637	PHF8-001	KNOWN	basic|CCDS	protein_coding	PHF8	HGNC	protein_coding	OTTHUMT00000056784.2	142	0.00	0	C	NM_015107		54069225	54069225	-1	no_errors	ENST00000357988	ensembl	human	known	69_37n	silent	102	23.13	31	SNP	0.000	T
PLCH1	23007	genome.wustl.edu	37	3	155311894	155311894	+	Silent	SNP	G	G	A			TCGA-AC-A3YJ-01A-11D-A22X-09	TCGA-AC-A3YJ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fecea7a-e8f4-4d95-bcd6-52cf363104e7	aee3b032-58c1-4ba5-ae5f-9008ca914a5b	g.chr3:155311894G>A	ENST00000340059.7	-	3	269	c.270C>T	c.(268-270)gaC>gaT	p.D90D	PLCH1_ENST00000460012.1_Silent_p.D72D|PLCH1_ENST00000414191.1_Silent_p.D72D|PLCH1_ENST00000447496.2_Silent_p.D90D|PLCH1_ENST00000494598.1_Silent_p.D90D|PLCH1_ENST00000334686.6_Silent_p.D72D	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	90	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGCAGCTGGGGTCGAAGTTCC	0.527																																						dbGAP											0													66.0	61.0	63.0					3																	155311894		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.270C>T	3.37:g.155311894G>A			Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.D90	ENST00000340059.7	37	c.270	CCDS46939.1	3																																																																																			PLCH1	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	ENSG00000114805		0.527	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	94	0.00	0	G	NM_014996		155311894	155311894	-1	no_errors	ENST00000340059	ensembl	human	known	69_37n	silent	33	43.10	25	SNP	0.982	A
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-AC-A3YJ-01A-11D-A22X-09	TCGA-AC-A3YJ-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fecea7a-e8f4-4d95-bcd6-52cf363104e7	aee3b032-58c1-4ba5-ae5f-9008ca914a5b	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	20	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	19	45.71	16	SNP	1.000	G
POFUT2	23275	genome.wustl.edu	37	21	46687385	46687385	+	Intron	SNP	G	G	T	rs568259423		TCGA-AC-A3YJ-01A-11D-A22X-09	TCGA-AC-A3YJ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fecea7a-e8f4-4d95-bcd6-52cf363104e7	aee3b032-58c1-4ba5-ae5f-9008ca914a5b	g.chr21:46687385G>T	ENST00000349485.5	-	8	1163				POFUT2_ENST00000471540.1_Intron|POFUT2_ENST00000331343.7_Missense_Mutation_p.T419N	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2						fucose metabolic process (GO:0006004)|mesoderm formation (GO:0001707)|protein O-linked fucosylation (GO:0036066)|regulation of epithelial to mesenchymal transition (GO:0010717)|regulation of gene expression (GO:0010468)|regulation of secretion (GO:0051046)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	peptide-O-fucosyltransferase activity (GO:0046922)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		GAGGCAAACAGTATGGAAATG	0.512													G|||	1	0.000199681	0.0	0.0	5008	,	,		21630	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													179.0	152.0	161.0					21																	46687385		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			AJ203079	CCDS13719.1, CCDS13721.1	21q22.3	2013-03-06	2004-06-07	2004-06-09	ENSG00000186866	ENSG00000186866	2.4.1.221	"""Fucosyltransferases"""	14683	protein-coding gene	gene with protein product	"""peptide-O-fucosyltransferase"", ""GDP-fucose protein O-fucosyltransferase 2"""	610249	"""chromosome 21 open reading frame 80"""	C21orf80			Standard	NM_133635		Approved	KIAA0958, FUT13	uc002zhc.3	Q9Y2G5	OTTHUMG00000084874	ENST00000349485.5:c.1136+119C>A	21.37:g.46687385G>T			Q6PJV1|Q7Z4N0|Q8WWU6|Q9BQS4|Q9BQS5|Q9UFY3	Missense_Mutation	SNP	pfam_GDP-Fuc_O-FucTrfase,superfamily_DUF749	p.T419N	ENST00000349485.5	37	c.1256	CCDS13719.1	21	.	.	.	.	.	.	.	.	.	.	G	11.43	1.637673	0.29157	.	.	ENSG00000186866	ENST00000331343	.	.	.	1.62	0.705	0.18127	.	.	.	.	.	T	0.18383	0.0441	.	.	.	0.09310	N	0.999999	B	0.24483	0.104	B	0.18561	0.022	T	0.22243	-1.0222	6	.	.	.	.	3.9891	0.09529	0.233:0.0:0.767:0.0	.	419	Q9Y2G5-1	.	N	419	.	.	T	-	2	0	POFUT2	45511813	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	-2.140000	0.01301	0.236000	0.21180	-0.136000	0.14681	ACT	POFUT2	-	NULL	ENSG00000186866		0.512	POFUT2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	POFUT2	HGNC	protein_coding	OTTHUMT00000192573.2	45	0.00	0	G	NM_015227		46687385	46687385	-1	no_errors	ENST00000331343	ensembl	human	known	69_37n	missense	35	10.26	4	SNP	0.003	T
PTEN	5728	genome.wustl.edu	37	10	89692868	89692868	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AC-A3YJ-01A-11D-A22X-09	TCGA-AC-A3YJ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fecea7a-e8f4-4d95-bcd6-52cf363104e7	aee3b032-58c1-4ba5-ae5f-9008ca914a5b	g.chr10:89692868delC	ENST00000371953.3	+	5	1709	c.352delC	c.(352-354)catfs	p.H118fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	118	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(5)|p.Y27fs*1(2)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGATGACAATCATGTTGCAGC	0.398		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												dbGAP	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	50	Whole gene deletion(37)|Deletion - Frameshift(8)|Unknown(5)	prostate(16)|central_nervous_system(11)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)											136.0	126.0	129.0					10																	89692868		2203	4298	6501	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.352delC	10.37:g.89692868delC	ENSP00000361021:p.His118fs		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.H118fs	ENST00000371953.3	37	c.352	CCDS31238.1	10																																																																																			PTEN	-	pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ	ENSG00000171862		0.398	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTEN	HGNC	protein_coding	OTTHUMT00000049241.1	132	0.00	0	C	NM_000314		89692868	89692868	+1	no_errors	ENST00000371953	ensembl	human	known	69_37n	frame_shift_del	73	11.11	10	DEL	1.000	-
RABEP1	9135	genome.wustl.edu	37	17	5266230	5266232	+	In_Frame_Del	DEL	TGG	TGG	-			TCGA-AC-A3YJ-01A-11D-A22X-09	TCGA-AC-A3YJ-10A-01D-A22X-09	TGG	TGG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fecea7a-e8f4-4d95-bcd6-52cf363104e7	aee3b032-58c1-4ba5-ae5f-9008ca914a5b	g.chr17:5266230_5266232delTGG	ENST00000546142.2	+	10	1774_1776	c.1587_1589delTGG	c.(1585-1590)cttggt>ctt	p.G530del	RABEP1_ENST00000262477.6_In_Frame_Del_p.G530del|NUP88_ENST00000573169.1_Intron|RABEP1_ENST00000341923.6_In_Frame_Del_p.G530del|RABEP1_ENST00000408982.2_In_Frame_Del_p.G530del|RABEP1_ENST00000537505.1_In_Frame_Del_p.G487del|RP11-420A6.2_ENST00000572792.1_RNA			Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	530					apoptotic process (GO:0006915)|endocytosis (GO:0006897)|membrane fusion (GO:0061025)|protein transport (GO:0015031)	early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GAAATAAACTTGGTAGACGTTGT	0.414																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AF098638	CCDS42243.1, CCDS45592.1	17p13.2	2008-02-05				ENSG00000029725			17677	protein-coding gene	gene with protein product		603616				8521472	Standard	NM_001291582		Approved	neurocrescin, RAB5EP, RABPT5, rabaptin-5	uc002gbm.4	Q15276		ENST00000546142.2:c.1587_1589delTGG	17.37:g.5266230_5266232delTGG	ENSP00000437701:p.Gly530del		B2RAG7|O95369|Q8IVX3	In_Frame_Del	DEL	pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin	p.G530in_frame_del	ENST00000546142.2	37	c.1587_1589	CCDS45592.1	17																																																																																			RABEP1	-	pfam_Rabaptin_coiled-coil	ENSG00000029725		0.414	RABEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABEP1	HGNC	protein_coding	OTTHUMT00000439349.1	89	0.00	0	TGG	NM_004703		5266230	5266232	+1	no_errors	ENST00000262477	ensembl	human	known	69_37n	in_frame_del	52	23.19	16	DEL	1.000:1.000:1.000	-
ROCK1P1	727758	genome.wustl.edu	37	18	117294	117294	+	RNA	SNP	T	T	C			TCGA-AC-A3YJ-01A-11D-A22X-09	TCGA-AC-A3YJ-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fecea7a-e8f4-4d95-bcd6-52cf363104e7	aee3b032-58c1-4ba5-ae5f-9008ca914a5b	g.chr18:117294T>C	ENST00000608049.1	+	0	720					NR_033770.1				Rho-associated, coiled-coil containing protein kinase 1 pseudogene 1																		ACTTAATTTGTCCATGTAAAG	0.368																																						dbGAP											0																																										-	-	-			0					18p11.32	2012-10-04			ENSG00000263006	ENSG00000263006			37832	pseudogene	pseudogene							Standard	NR_033770		Approved		uc002kke.3		OTTHUMG00000177913		18.37:g.117294T>C				RNA	SNP	-	NULL	ENST00000608049.1	37	NULL		18																																																																																			ROCK1P1	-	-	ENSG00000263006		0.368	ROCK1P1-003	KNOWN	basic	processed_transcript	ROCK1P1	HGNC	pseudogene	OTTHUMT00000472417.1	53	0.00	0	T			117294	117294	+1	no_errors	ENST00000576266	ensembl	human	known	69_37n	rna	42	25.00	14	SNP	0.992	C
SF1	7536	genome.wustl.edu	37	11	64533497	64533497	+	Silent	SNP	G	G	A			TCGA-AC-A3YJ-01A-11D-A22X-09	TCGA-AC-A3YJ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fecea7a-e8f4-4d95-bcd6-52cf363104e7	aee3b032-58c1-4ba5-ae5f-9008ca914a5b	g.chr11:64533497G>A	ENST00000377390.3	-	13	2050	c.1713C>T	c.(1711-1713)ccC>ccT	p.P571P	SF1_ENST00000433274.2_Silent_p.P545P|SF1_ENST00000377387.1_Intron|SF1_ENST00000227503.9_Intron|SF1_ENST00000489544.1_5'Flank|SF1_ENST00000377394.3_Intron|SF1_ENST00000334944.5_Silent_p.P571P|SF1_ENST00000422298.2_Intron	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	571	Pro-rich.				Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|mRNA 3'-splice site recognition (GO:0000389)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of smooth muscle cell proliferation (GO:0048662)|regulation of steroid biosynthetic process (GO:0050810)|regulation of transcription, DNA-templated (GO:0006355)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|ribosome (GO:0005840)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GCTGGACCCCGGGGGGCAGGG	0.731																																						dbGAP											0													12.0	16.0	15.0					11																	64533497		2065	4177	6242	-	-	-	SO:0001819	synonymous_variant	0			D26120	CCDS8080.1, CCDS8081.1, CCDS31599.1, CCDS44642.1, CCDS44642.2, CCDS53660.1, CCDS53661.1	11q13	2014-09-17	2001-12-19	2002-01-11	ENSG00000168066	ENSG00000168066		"""Zinc fingers, CCHC domain containing"""	12950	protein-coding gene	gene with protein product		601516	"""zinc finger protein 162"""	ZNF162		7912130, 9573336	Standard	NM_201997		Approved	ZFM1, ZCCHC25	uc001oaz.2	Q15637	OTTHUMG00000066833	ENST00000377390.3:c.1713C>T	11.37:g.64533497G>A			B7Z1Q1|C9JJE2|Q14818|Q14819|Q15913|Q8IY00|Q92744|Q92745|Q969H7|Q9BW01|Q9UEI0	Missense_Mutation	SNP	NULL	p.R291W	ENST00000377390.3	37	c.871	CCDS31599.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.91|11.91	1.779829|1.779829	0.31502|0.31502	.|.	.|.	ENSG00000168066|ENSG00000168066	ENST00000413725|ENST00000486867	.|T	.|0.55052	.|0.54	5.3|5.3	3.41|3.41	0.39046|0.39046	.|.	.|.	.|.	.|.	.|.	T|T	0.56992|0.56992	0.2023|0.2023	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.56613|0.56613	-0.7950|-0.7950	5|6	0.87932|0.87932	D|D	0|0	.|.	6.0743|6.0743	0.19907|0.19907	0.0887:0.0:0.5585:0.3528|0.0887:0.0:0.5585:0.3528	.|.	.|.	.|.	.|.	L|W	141|291	.|ENSP00000419062:R291W	ENSP00000395927:P141L|ENSP00000419062:R291W	P|R	-|-	2|1	0|2	SF1|SF1	64290073|64290073	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	0.719000|0.719000	0.25881|0.25881	0.603000|0.603000	0.29913|0.29913	0.561000|0.561000	0.74099|0.74099	CCG|CGG	SF1	-	NULL	ENSG00000168066		0.731	SF1-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SF1	HGNC	protein_coding	OTTHUMT00000143242.1	18	0.00	0	G	NM_004630		64533497	64533497	-1	no_start_codon:no_stop_codon:bad_bp_length_for_coding_region	ENST00000486867	ensembl	human	putative	69_37n	missense	6	50.00	6	SNP	1.000	A
SLC2A3	6515	genome.wustl.edu	37	12	8074173	8074173	+	Silent	SNP	A	A	G			TCGA-AC-A3YJ-01A-11D-A22X-09	TCGA-AC-A3YJ-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fecea7a-e8f4-4d95-bcd6-52cf363104e7	aee3b032-58c1-4ba5-ae5f-9008ca914a5b	g.chr12:8074173A>G	ENST00000075120.7	-	10	1567	c.1327T>C	c.(1327-1329)Ttg>Ctg	p.L443L	SLC2A3_ENST00000543435.1_5'Flank	NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	443					carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|L-ascorbic acid metabolic process (GO:0019852)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		GTAAAAGCCAAGAAGGTAATG	0.453																																					Colon(96;424 1461 14416 20933 23688)	dbGAP											0													74.0	71.0	72.0					12																	8074173		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M20681	CCDS8586.1	12p13.3	2013-05-22			ENSG00000059804	ENSG00000059804		"""Solute carriers"""	11007	protein-coding gene	gene with protein product		138170		GLUT3			Standard	NM_006931		Approved		uc001qtr.3	P11169	OTTHUMG00000133685	ENST00000075120.7:c.1327T>C	12.37:g.8074173A>G			B2R606|D3DUU6|Q6I9U2|Q9UG15	Silent	SNP	pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	p.L443	ENST00000075120.7	37	c.1327	CCDS8586.1	12																																																																																			SLC2A3	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt	ENSG00000059804		0.453	SLC2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A3	HGNC	protein_coding	OTTHUMT00000257914.1	47	0.00	0	A	NM_006931		8074173	8074173	-1	no_errors	ENST00000075120	ensembl	human	known	69_37n	silent	42	12.50	6	SNP	0.998	G
SPEG	10290	genome.wustl.edu	37	2	220353572	220353572	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A3YJ-01A-11D-A22X-09	TCGA-AC-A3YJ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fecea7a-e8f4-4d95-bcd6-52cf363104e7	aee3b032-58c1-4ba5-ae5f-9008ca914a5b	g.chr2:220353572C>T	ENST00000312358.7	+	34	8231	c.8099C>T	c.(8098-8100)cCg>cTg	p.P2700L	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2700	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cardiac muscle cell development (GO:0055013)|in utero embryonic development (GO:0001701)|muscle organ development (GO:0007517)|negative regulation of cell proliferation (GO:0008285)|respiratory system development (GO:0060541)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTGTGGAAGCCGGGAGACAGC	0.637																																						dbGAP											0													24.0	27.0	26.0					2																	220353572		2053	4183	6236	-	-	-	SO:0001583	missense	0			BC006346	CCDS42824.1, CCDS54432.1	2q35	2013-01-11	2006-04-27	2006-04-27	ENSG00000072195	ENSG00000072195		"""Immunoglobulin superfamily / I-set domain containing"""	16901	protein-coding gene	gene with protein product		615950	"""aortic preferentially expressed gene 1"""	APEG1		8663449, 10973969	Standard	NM_005876		Approved	MGC12676, KIAA1297, SPEGalpha, SPEGbeta, BPEG	uc010fwg.3	Q15772	OTTHUMG00000058925	ENST00000312358.7:c.8099C>T	2.37:g.220353572C>T	ENSP00000311684:p.Pro2700Leu		A8K0G6|A8MRU0|Q27J74|Q695L1|Q6FGA6|Q6ZQW1|Q6ZTL8|Q9P2P9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.P2700L	ENST00000312358.7	37	c.8099	CCDS42824.1	2	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536292	0.65085	.	.	ENSG00000072195	ENST00000312358;ENST00000265327	T	0.58797	0.31	4.38	4.38	0.52667	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.36972	N	0.002302	T	0.75170	0.3813	M	0.81112	2.525	0.80722	D	1	D	0.89917	1.0	P	0.62298	0.9	T	0.80197	-0.1482	10	0.66056	D	0.02	.	17.1282	0.86720	0.0:1.0:0.0:0.0	.	2700	Q15772	SPEG_HUMAN	L	2700	ENSP00000311684:P2700L	ENSP00000265327:P2700L	P	+	2	0	SPEG	220061816	1.000000	0.71417	0.950000	0.38849	0.987000	0.75469	7.562000	0.82300	2.272000	0.75746	0.563000	0.77884	CCG	SPEG	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000072195		0.637	SPEG-004	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SPEG	HGNC	protein_coding	OTTHUMT00000130252.2	144	0.00	0	C	NM_005876		220353572	220353572	+1	no_errors	ENST00000312358	ensembl	human	novel	69_37n	missense	48	46.67	42	SNP	1.000	T
UNC79	57578	genome.wustl.edu	37	14	93962758	93962758	+	Splice_Site	SNP	G	G	T			TCGA-AC-A3YJ-01A-11D-A22X-09	TCGA-AC-A3YJ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fecea7a-e8f4-4d95-bcd6-52cf363104e7	aee3b032-58c1-4ba5-ae5f-9008ca914a5b	g.chr14:93962758G>T	ENST00000393151.2	+	6	714	c.714G>T	c.(712-714)gtG>gtT	p.V238V	UNC79_ENST00000555664.1_Splice_Site_p.V238V|UNC79_ENST00000256339.4_Splice_Site_p.V61V|UNC79_ENST00000553484.1_Splice_Site_p.V238V			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	238					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						ACATTACAGTGTATCATTGTC	0.279																																						dbGAP											0													77.0	79.0	79.0					14																	93962758		2202	4281	6483	-	-	-	SO:0001630	splice_region_variant	0			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.713-1G>T	14.37:g.93962758G>T			B5MDL6|Q6ZUT7	Silent	SNP	superfamily_ARM-type_fold	p.V238	ENST00000393151.2	37	c.714		14																																																																																			UNC79	-	NULL	ENSG00000133958		0.279	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	33	0.00	0	G	XM_028395	Silent	93962758	93962758	+1	no_errors	ENST00000553484	ensembl	human	known	69_37n	silent	23	11.54	3	SNP	0.987	T
USF1	7391	genome.wustl.edu	37	1	161009775	161009775	+	Missense_Mutation	SNP	G	G	C			TCGA-AC-A3YJ-01A-11D-A22X-09	TCGA-AC-A3YJ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fecea7a-e8f4-4d95-bcd6-52cf363104e7	aee3b032-58c1-4ba5-ae5f-9008ca914a5b	g.chr1:161009775G>C	ENST00000368021.3	-	11	1072	c.868C>G	c.(868-870)Ctg>Gtg	p.L290V	USF1_ENST00000368020.1_Missense_Mutation_p.L290V|USF1_ENST00000435396.1_Missense_Mutation_p.L231V|TSTD1_ENST00000423014.2_5'Flank|TSTD1_ENST00000318289.10_5'Flank|USF1_ENST00000368019.1_Missense_Mutation_p.L262V|F11R_ENST00000289779.3_5'Flank|TSTD1_ENST00000368023.3_5'Flank|TSTD1_ENST00000368024.1_5'Flank|TSTD1_ENST00000466967.1_5'Flank	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	290	Leucine-zipper.				carbon catabolite regulation of transcription (GO:0045990)|cellular response to insulin stimulus (GO:0032869)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|late viral transcription (GO:0019086)|lipid homeostasis (GO:0055088)|negative regulation of fibrinolysis (GO:0051918)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter by glucose (GO:0000432)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter by glucose (GO:0000430)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CGAAGCAGCAGATTCTTGTTT	0.488																																						dbGAP											0													109.0	98.0	102.0					1																	161009775		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC035505	CCDS1214.1	1q22-q23	2013-05-21			ENSG00000158773	ENSG00000158773		"""Basic helix-loop-helix proteins"""	12593	protein-coding gene	gene with protein product		191523				8486371	Standard	NM_007122		Approved	UEF, MLTFI, bHLHb11	uc031pqv.1	P22415	OTTHUMG00000031472	ENST00000368021.3:c.868C>G	1.37:g.161009775G>C	ENSP00000357000:p.Leu290Val		B2RBZ4|Q5SY46|Q7Z5Y1	Missense_Mutation	SNP	pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	p.L290V	ENST00000368021.3	37	c.868	CCDS1214.1	1	.	.	.	.	.	.	.	.	.	.	G	11.88	1.769958	0.31320	.	.	ENSG00000158773	ENST00000368020;ENST00000368021;ENST00000435396;ENST00000368019;ENST00000528768	D;D;D;D	0.92752	-3.08;-3.08;-3.1;-3.06	5.28	5.28	0.74379	.	0.078088	0.53938	D	0.000045	T	0.82121	0.4968	L	0.36672	1.1	0.34340	D	0.688651	B	0.23128	0.08	B	0.17098	0.017	T	0.77715	-0.2484	10	0.33141	T	0.24	-15.6795	14.2962	0.66316	0.0:0.0:1.0:0.0	.	290	P22415	USF1_HUMAN	V	290;290;231;262;154	ENSP00000356999:L290V;ENSP00000357000:L290V;ENSP00000390109:L231V;ENSP00000356998:L262V	ENSP00000356998:L262V	L	-	1	2	USF1	159276399	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	3.112000	0.50368	2.746000	0.94184	0.655000	0.94253	CTG	USF1	-	NULL	ENSG00000158773		0.488	USF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USF1	HGNC	protein_coding	OTTHUMT00000077050.1	81	0.00	0	G	NM_007122		161009775	161009775	-1	no_errors	ENST00000368020	ensembl	human	known	69_37n	missense	70	16.67	14	SNP	0.997	C
USP32	84669	genome.wustl.edu	37	17	58289418	58289418	+	Missense_Mutation	SNP	T	T	C			TCGA-AC-A3YJ-01A-11D-A22X-09	TCGA-AC-A3YJ-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fecea7a-e8f4-4d95-bcd6-52cf363104e7	aee3b032-58c1-4ba5-ae5f-9008ca914a5b	g.chr17:58289418T>C	ENST00000300896.4	-	19	2340	c.2146A>G	c.(2146-2148)Ata>Gta	p.I716V	USP32_ENST00000592339.1_Missense_Mutation_p.I386V	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	716					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CTATTTGCTATAAAAGACATC	0.303																																						dbGAP											0													84.0	82.0	83.0					17																	58289418		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF533230	CCDS32697.1	17q23.3	2013-01-10	2005-08-08		ENSG00000170832	ENSG00000170832		"""Ubiquitin-specific peptidases"", ""EF-hand domain containing"""	19143	protein-coding gene	gene with protein product		607740	"""ubiquitin specific protease 32"""			12838346	Standard	NM_032582		Approved	NY-REN-60, USP10	uc002iyo.1	Q8NFA0		ENST00000300896.4:c.2146A>G	17.37:g.58289418T>C	ENSP00000300896:p.Ile716Val		Q7Z5T3|Q9BX85|Q9Y591	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Pept_C19_DUSP,smart_EF_hand_Ca-bd,smart_Pept_C19_DUSP,pfscan_EF_HAND_2,pfscan_Peptidase_C19,prints_Recoverin	p.I716V	ENST00000300896.4	37	c.2146	CCDS32697.1	17	.	.	.	.	.	.	.	.	.	.	T	15.39	2.820017	0.50633	.	.	ENSG00000170832	ENST00000300896	T	0.44881	0.91	4.93	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.28632	0.0709	L	0.27053	0.805	0.80722	D	1	B	0.31026	0.304	B	0.25884	0.064	T	0.07558	-1.0766	10	0.17369	T	0.5	.	14.8903	0.70604	0.0:0.0:0.0:1.0	.	716	Q8NFA0	UBP32_HUMAN	V	716	ENSP00000300896:I716V	ENSP00000300896:I716V	I	-	1	0	USP32	55644200	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.004000	0.70709	1.975000	0.57531	0.533000	0.62120	ATA	USP32	-	NULL	ENSG00000170832		0.303	USP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP32	HGNC	protein_coding	OTTHUMT00000449235.2	86	0.00	0	T	NM_032582		58289418	58289418	-1	no_errors	ENST00000300896	ensembl	human	known	69_37n	missense	48	35.14	26	SNP	1.000	C
USP34	9736	genome.wustl.edu	37	2	61472411	61472411	+	Missense_Mutation	SNP	A	A	T			TCGA-AC-A3YJ-01A-11D-A22X-09	TCGA-AC-A3YJ-10A-01D-A22X-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fecea7a-e8f4-4d95-bcd6-52cf363104e7	aee3b032-58c1-4ba5-ae5f-9008ca914a5b	g.chr2:61472411A>T	ENST00000398571.2	-	51	6637	c.6561T>A	c.(6559-6561)aaT>aaA	p.N2187K		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2187	USP.				positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CCTCAGCATCATTAAAAAGAT	0.294																																						dbGAP											0													88.0	80.0	82.0					2																	61472411		1817	4080	5897	-	-	-	SO:0001583	missense	0			AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.6561T>A	2.37:g.61472411A>T	ENSP00000381577:p.Asn2187Lys		A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.N2187K	ENST00000398571.2	37	c.6561	CCDS42686.1	2	.	.	.	.	.	.	.	.	.	.	A	17.47	3.398876	0.62177	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571;ENST00000453734	T;T	0.08896	3.04;3.04	5.34	2.87	0.33458	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.36441	0.0967	H	0.95114	3.625	0.49389	D	0.999787	D	0.62365	0.991	D	0.77004	0.989	T	0.30416	-0.9979	10	0.87932	D	0	.	9.208	0.37300	0.7227:0.0:0.2773:0.0	.	2187	Q70CQ2	UBP34_HUMAN	K	2035;2035;2187;465	ENSP00000381577:N2187K;ENSP00000410559:N465K	ENSP00000263989:N2035K	N	-	3	2	USP34	61325915	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.090000	0.30902	0.388000	0.25054	-0.356000	0.07607	AAT	USP34	-	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	ENSG00000115464		0.294	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP34	HGNC	protein_coding	OTTHUMT00000325650.4	56	0.00	0	A			61472411	61472411	-1	no_errors	ENST00000398571	ensembl	human	known	69_37n	missense	43	17.31	9	SNP	1.000	T
VTCN1	79679	genome.wustl.edu	37	1	117695947	117695947	+	Missense_Mutation	SNP	C	C	T	rs12092598		TCGA-AC-A3YJ-01A-11D-A22X-09	TCGA-AC-A3YJ-10A-01D-A22X-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fecea7a-e8f4-4d95-bcd6-52cf363104e7	aee3b032-58c1-4ba5-ae5f-9008ca914a5b	g.chr1:117695947C>T	ENST00000369458.3	-	4	568	c.490G>A	c.(490-492)Gag>Aag	p.E164K	VTCN1_ENST00000359008.4_Missense_Mutation_p.E167K|VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000328189.3_Missense_Mutation_p.E48K|VTCN1_ENST00000539893.1_Missense_Mutation_p.E69K	NM_024626.3	NP_078902.2			V-set domain containing T cell activation inhibitor 1											large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		CGCAAGGTCTCTGAGCTGGCA	0.542																																						dbGAP											0													62.0	64.0	63.0					1																	117695947		2203	4300	6503	-	-	-	SO:0001583	missense	0			BX648021	CCDS894.1, CCDS58019.1, CCDS58020.1	1p12	2013-01-29			ENSG00000134258	ENSG00000134258		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	28873	protein-coding gene	gene with protein product	"""B7 family member, H4"", ""B7 superfamily member 1"""	608162				12818165, 12818166	Standard	NM_024626		Approved	B7-H4, FLJ22418, B7S1, B7X, B7H4	uc001ehb.3	Q7Z7D3	OTTHUMG00000012118	ENST00000369458.3:c.490G>A	1.37:g.117695947C>T	ENSP00000358470:p.Glu164Lys			Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.E167K	ENST00000369458.3	37	c.499	CCDS894.1	1	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470246	0.63625	.	.	ENSG00000134258	ENST00000369458;ENST00000359008;ENST00000328189;ENST00000539893	T;T;T;T	0.23754	3.39;3.39;1.89;4.09	5.34	5.34	0.76211	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.188142	0.37857	N	0.001908	T	0.15912	0.0383	N	0.14661	0.345	0.39421	D	0.966927	D;B	0.54964	0.969;0.408	P;B	0.53313	0.723;0.27	T	0.01561	-1.1324	10	0.41790	T	0.15	-13.9302	14.0737	0.64877	0.0:0.8496:0.1504:0.0	rs12092598;rs12092598	48;164	Q7Z7D3-2;Q7Z7D3	.;VTCN1_HUMAN	K	164;167;48;69	ENSP00000358470:E164K;ENSP00000351899:E167K;ENSP00000328168:E48K;ENSP00000444724:E69K	ENSP00000328168:E48K	E	-	1	0	VTCN1	117497470	0.900000	0.30661	0.997000	0.53966	0.996000	0.88848	1.584000	0.36589	2.937000	0.99478	0.650000	0.86243	GAG	VTCN1	-	pfscan_Ig-like	ENSG00000134258		0.542	VTCN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	VTCN1	HGNC	protein_coding	OTTHUMT00000033500.2	57	0.00	0	C	NM_024626		117695947	117695947	-1	no_errors	ENST00000359008	ensembl	human	known	69_37n	missense	22	35.29	12	SNP	0.993	T
ZFP3	124961	genome.wustl.edu	37	17	4995115	4995115	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A3YJ-01A-11D-A22X-09	TCGA-AC-A3YJ-10A-01D-A22X-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fecea7a-e8f4-4d95-bcd6-52cf363104e7	aee3b032-58c1-4ba5-ae5f-9008ca914a5b	g.chr17:4995115G>T	ENST00000318833.3	+	2	652	c.316G>T	c.(316-318)Gga>Tga	p.G106*		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	106					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						TACACATCAGGGAGATACAAC	0.433																																						dbGAP											0													53.0	55.0	54.0					17																	4995115		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			BX647638	CCDS11067.1	17p13.2	2013-01-08	2012-11-27		ENSG00000180787	ENSG00000180787		"""Zinc fingers, C2H2-type"""	12861	protein-coding gene	gene with protein product		194480	"""zinc finger protein homologous to Zfp-3 in mouse"", ""zinc finger protein 3 homolog (mouse)"""				Standard	NM_153018		Approved	FLJ30726, ZNF752	uc002gaq.3	Q96NJ6		ENST00000318833.3:c.316G>T	17.37:g.4995115G>T	ENSP00000320347:p.Gly106*		A5PLL4	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G106*	ENST00000318833.3	37	c.316	CCDS11067.1	17	.	.	.	.	.	.	.	.	.	.	G	38	6.646760	0.97730	.	.	ENSG00000180787	ENST00000318833	.	.	.	3.75	2.77	0.32553	.	0.266015	0.20018	N	0.100968	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.9732	9.3521	0.38145	0.0:0.2189:0.7811:0.0	.	.	.	.	X	106	.	ENSP00000320347:G106X	G	+	1	0	ZFP3	4935839	0.000000	0.05858	0.018000	0.16275	0.794000	0.44872	0.166000	0.16583	1.162000	0.42619	0.563000	0.77884	GGA	ZFP3	-	NULL	ENSG00000180787		0.433	ZFP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP3	HGNC	protein_coding	OTTHUMT00000438979.1	55	0.00	0	G	NM_153018		4995115	4995115	+1	no_errors	ENST00000318833	ensembl	human	known	69_37n	nonsense	29	12.12	4	SNP	0.336	T
ZNF229	7772	genome.wustl.edu	37	19	44933891	44933891	+	Silent	SNP	T	T	C			TCGA-AC-A3YJ-01A-11D-A22X-09	TCGA-AC-A3YJ-10A-01D-A22X-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6fecea7a-e8f4-4d95-bcd6-52cf363104e7	aee3b032-58c1-4ba5-ae5f-9008ca914a5b	g.chr19:44933891T>C	ENST00000588931.1	-	6	1498	c.1065A>G	c.(1063-1065)ggA>ggG	p.G355G	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000291187.4_Silent_p.G349G	NM_014518.2	NP_055333.2	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	355					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TGAACCCCTTTCCACAGACAT	0.512																																						dbGAP											0													87.0	88.0	88.0					19																	44933891		2022	4215	6237	-	-	-	SO:0001819	synonymous_variant	0			AF192979	CCDS42574.1, CCDS62706.1	19q13.2	2013-01-08				ENSG00000278318		"""Zinc fingers, C2H2-type"", ""-"""	13022	protein-coding gene	gene with protein product							Standard	XM_006723372		Approved		uc002oze.1	Q9UJW7		ENST00000588931.1:c.1065A>G	19.37:g.44933891T>C			B2RWN3|Q59FV2|Q86WL9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G355	ENST00000588931.1	37	c.1065	CCDS42574.1	19																																																																																			ZNF229	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000167383		0.512	ZNF229-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF229	HGNC	protein_coding	OTTHUMT00000460833.1	81	0.00	0	T	NM_014518		44933891	44933891	-1	no_errors	ENST00000588931	ensembl	human	known	69_37n	silent	25	35.90	14	SNP	0.979	C
