#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_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	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
DPH6	89978	genome.wustl.edu	37	15	35530020	35530020	+	Intron	SNP	A	A	T			TCGA-GM-A2DF-01A-11D-A17W-09	TCGA-GM-A2DF-10C-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7456abd5-303e-4e6f-bf4e-47efefc7310f	12ca0b20-2f39-43df-a572-28f4069502de	g.chr15:35530020A>T	ENST00000560386.1	-	4	200				ANP32AP1_ENST00000560832.1_RNA			Q7L8W6	DPH6_HUMAN	diphthamine biosynthesis 6						peptidyl-diphthamide biosynthetic process from peptidyl-histidine (GO:0017183)		ATP binding (GO:0005524)|diphthine-ammonia ligase activity (GO:0017178)										GGCTACGTGGAGGGCCTggag	0.562																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS10043.1, CCDS45213.1	15q14	2013-06-19	2013-06-19	2013-05-02	ENSG00000134146	ENSG00000134146	6.3.1.14		30543	protein-coding gene	gene with protein product	"""diphthine--ammonia ligase"""		"""ATP binding domain 4"", ""DPH6 homolog (S. cerevisiae)"""	ATPBD4		23169644, 23468660	Standard	NM_080650		Approved	MGC14798		Q7L8W6	OTTHUMG00000129759	ENST00000560386.1:c.3239-17237T>A	15.37:g.35530020A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWG1|Q96HJ6	RNA	SNP	-	NULL	ENST00000560386.1	37	NULL		15																																																																																			ANP32AP1	-	-	ENSG00000259516		0.562	DPH6-003	KNOWN	basic	processed_transcript	ANP32AP1	HGNC	protein_coding	OTTHUMT00000417824.1	280	0.00	0	A	NM_080650		35530020	35530020	+1	no_errors	ENST00000560832	ensembl	human	known	69_37n	rna	208	11.11	26	SNP	1.000	T
ARHGEF7	8874	genome.wustl.edu	37	13	111927099	111927099	+	Missense_Mutation	SNP	G	G	A			TCGA-GM-A2DF-01A-11D-A17W-09	TCGA-GM-A2DF-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7456abd5-303e-4e6f-bf4e-47efefc7310f	12ca0b20-2f39-43df-a572-28f4069502de	g.chr13:111927099G>A	ENST00000375741.2	+	12	1547	c.1297G>A	c.(1297-1299)Gat>Aat	p.D433N	ARHGEF7_ENST00000426073.2_Missense_Mutation_p.D255N|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.D340N|ARHGEF7_ENST00000544132.1_Missense_Mutation_p.D89N|ARHGEF7_ENST00000483189.1_3'UTR|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.D412N|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.D255N|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.D177N|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.D330N|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.D255N|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.D255N|ARHGEF7_ENST00000375739.2_Missense_Mutation_p.D383N	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	433	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			AGATAGACAAGATATTCAAAA	0.328																																						dbGAP											0													90.0	91.0	90.0					13																	111927099		2203	4300	6503	-	-	-	SO:0001583	missense	0			D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.1297G>A	13.37:g.111927099G>A	ENSP00000364893:p.Asp433Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,prints_SH3_domain,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.D433N	ENST00000375741.2	37	c.1297	CCDS45068.1	13	.	.	.	.	.	.	.	.	.	.	G	19.99	3.928227	0.73327	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000370623;ENST00000545635;ENST00000466143;ENST00000544132;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737;ENST00000375723;ENST00000478679	T;T;T;T;T;T;T;T;T;T;T	0.62941	-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01;-0.01	4.74	4.74	0.60224	Dbl homology (DH) domain (5);	0.096084	0.64402	D	0.000001	T	0.78691	0.4323	M	0.76170	2.325	0.80722	D	1	B;D;P;P;D;D	0.63880	0.271;0.966;0.736;0.778;0.993;0.991	P;D;P;P;D;D	0.71414	0.591;0.969;0.835;0.803;0.973;0.954	T	0.79813	-0.1645	10	0.46703	T	0.11	.	18.0938	0.89482	0.0:0.0:1.0:0.0	.	177;330;177;383;433;412	E9PDQ5;B7Z6G2;B7Z344;Q14155-2;Q14155;Q14155-3	.;.;.;.;ARHG7_HUMAN;.	N	412;433;383;340;410;255;89;255;255;255;330;255;177	ENSP00000325994:D412N;ENSP00000364893:D433N;ENSP00000364891:D383N;ENSP00000359657:D340N;ENSP00000418067:D255N;ENSP00000218789:D255N;ENSP00000364888:D255N;ENSP00000397068:D255N;ENSP00000364889:D330N;ENSP00000364875:D255N;ENSP00000417596:D177N	ENSP00000218789:D255N	D	+	1	0	ARHGEF7	110725100	1.000000	0.71417	1.000000	0.80357	0.433000	0.31745	8.485000	0.90448	2.325000	0.78763	0.655000	0.94253	GAT	ARHGEF7	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	ENSG00000102606		0.328	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	ARHGEF7	HGNC	protein_coding		166	0.00	0	G	NM_001113511		111927099	111927099	+1	no_errors	ENST00000375741	ensembl	human	known	69_37n	missense	104	35.40	57	SNP	1.000	A
ATP2B3	492	genome.wustl.edu	37	X	152825329	152825329	+	Missense_Mutation	SNP	G	G	A	rs201753621		TCGA-GM-A2DF-01A-11D-A17W-09	TCGA-GM-A2DF-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7456abd5-303e-4e6f-bf4e-47efefc7310f	12ca0b20-2f39-43df-a572-28f4069502de	g.chrX:152825329G>A	ENST00000349466.2	+	17	3094	c.2768G>A	c.(2767-2769)cGc>cAc	p.R923H	ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000393842.1_Missense_Mutation_p.R909H|ATP2B3_ENST00000359149.3_Missense_Mutation_p.R923H|ATP2B3_ENST00000263519.4_Missense_Mutation_p.R923H|ATP2B3_ENST00000370186.1_Missense_Mutation_p.R909H|ATP2B3_ENST00000370181.2_Missense_Mutation_p.R909H			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	923					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCATCTCCCGCACCATGATG	0.632													G|||	1	0.000264901	0.0	0.0	3775	,	,		14574	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													105.0	81.0	89.0					X																	152825329		2203	4300	6503	-	-	-	SO:0001583	missense	0			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.2768G>A	X.37:g.152825329G>A	ENSP00000343886:p.Arg923His	Somatic		WXS	Illumina GAIIx	Phase_IV	B7WNR8|B7WNY5|Q12995|Q16858	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.R923H	ENST00000349466.2	37	c.2768	CCDS35440.1	X	1	6.027727546714888E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	27.3	4.817847	0.90790	.	.	ENSG00000067842	ENST00000370186;ENST00000349466;ENST00000393842;ENST00000359149;ENST00000263519;ENST00000370181	D;D;D;D;D;D	0.89681	-2.55;-2.55;-2.55;-2.55;-2.55;-2.55	5.32	5.32	0.75619	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.063724	0.56097	D	0.000039	D	0.93690	0.7984	H	0.94964	3.605	0.47621	D	0.999473	D;P	0.54047	0.964;0.923	P;B	0.47528	0.549;0.413	D	0.95413	0.8500	10	0.87932	D	0	-20.949	16.7389	0.85454	0.0:0.0:1.0:0.0	.	923;923	Q16720;Q16720-2	AT2B3_HUMAN;.	H	909;923;909;923;923;909	ENSP00000359205:R909H;ENSP00000343886:R923H;ENSP00000377425:R909H;ENSP00000352062:R923H;ENSP00000263519:R923H;ENSP00000359200:R909H	ENSP00000263519:R923H	R	+	2	0	ATP2B3	152478523	0.995000	0.38212	0.822000	0.32727	0.943000	0.58893	5.225000	0.65294	2.212000	0.71576	0.529000	0.55759	CGC	ATP2B3	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_PMCA	ENSG00000067842		0.632	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B3	HGNC	protein_coding	OTTHUMT00000060957.1	82	0.00	0	G	NM_021949		152825329	152825329	+1	no_errors	ENST00000263519	ensembl	human	known	69_37n	missense	69	18.82	16	SNP	0.785	A
AZI2	64343	genome.wustl.edu	37	3	28381938	28381938	+	Frame_Shift_Del	DEL	T	T	-			TCGA-GM-A2DF-01A-11D-A17W-09	TCGA-GM-A2DF-10C-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7456abd5-303e-4e6f-bf4e-47efefc7310f	12ca0b20-2f39-43df-a572-28f4069502de	g.chr3:28381938delT	ENST00000479665.1	-	2	702	c.171delA	c.(169-171)aaafs	p.K57fs	AZI2_ENST00000334100.6_Frame_Shift_Del_p.K57fs|AZI2_ENST00000420543.2_Frame_Shift_Del_p.K57fs|AZI2_ENST00000457172.1_Frame_Shift_Del_p.K57fs|AZI2_ENST00000295748.3_5'UTR	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	57	Homodimerization. {ECO:0000250}.				dendritic cell differentiation (GO:0097028)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|interferon-alpha production (GO:0032607)|interferon-gamma production (GO:0032609)|interleukin-6 production (GO:0032635)|mitotic cell cycle (GO:0000278)|T cell activation (GO:0042110)|tumor necrosis factor production (GO:0032640)	cytoplasm (GO:0005737)				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						AAGAGTTCTCTTTCTCTGAAT	0.318																																						dbGAP											0													65.0	64.0	64.0					3																	28381938		2202	4299	6501	-	-	-	SO:0001589	frameshift_variant	0			AC093142	CCDS2647.1, CCDS46782.1, CCDS46783.1	3p23	2006-03-01			ENSG00000163512	ENSG00000163512			24002	protein-coding gene	gene with protein product		609916				10580148	Standard	NM_001134432		Approved	NAP1, FLJ21939, AZ2	uc003ceb.4	Q9H6S1	OTTHUMG00000130573	ENST00000479665.1:c.171delA	3.37:g.28381938delT	ENSP00000419371:p.Lys57fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K3M2|C9JB40|H7BXU6|Q86W99|Q9BQF1	Frame_Shift_Del	DEL	NULL	p.E58fs	ENST00000479665.1	37	c.171	CCDS2647.1	3																																																																																			AZI2	-	NULL	ENSG00000163512		0.318	AZI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AZI2	HGNC	protein_coding	OTTHUMT00000252998.2	118	0.00	0	T	NM_203326		28381938	28381938	-1	no_errors	ENST00000479665	ensembl	human	known	69_37n	frame_shift_del	108	11.38	14	DEL	0.998	-
CCDC181	57821	genome.wustl.edu	37	1	169391472	169391472	+	Missense_Mutation	SNP	G	G	C			TCGA-GM-A2DF-01A-11D-A17W-09	TCGA-GM-A2DF-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7456abd5-303e-4e6f-bf4e-47efefc7310f	12ca0b20-2f39-43df-a572-28f4069502de	g.chr1:169391472G>C	ENST00000367806.3	-	3	349	c.197C>G	c.(196-198)tCt>tGt	p.S66C	CCDC181_ENST00000367805.3_Missense_Mutation_p.S66C|CCDC181_ENST00000491570.1_5'UTR|CCDC181_ENST00000545005.1_Missense_Mutation_p.S66C	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	66						nucleus (GO:0005634)											GTCAGGATCAGAATGCCGTTT	0.378																																						dbGAP											0													102.0	93.0	96.0					1																	169391472		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.197C>G	1.37:g.169391472G>C	ENSP00000356780:p.Ser66Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	NULL	p.S66C	ENST00000367806.3	37	c.197		1	.	.	.	.	.	.	.	.	.	.	G	11.51	1.661028	0.29515	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.25414	1.81;1.81;1.81;1.8	5.27	5.27	0.74061	.	0.721976	0.13368	N	0.393166	T	0.30947	0.0781	L	0.57536	1.79	0.28454	N	0.916199	D;D;D	0.67145	0.995;0.996;0.996	P;P;P	0.58873	0.847;0.794;0.794	T	0.12116	-1.0560	9	0.59425	D	0.04	-0.5461	11.5359	0.50636	0.0823:0.0:0.9177:0.0	.	66;66;66	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	C	66	ENSP00000356779:S66C;ENSP00000356780:S66C;ENSP00000442297:S66C;ENSP00000411000:S66C	ENSP00000356779:S66C	S	-	2	0	C1orf114	167658096	1.000000	0.71417	0.983000	0.44433	0.037000	0.13140	4.919000	0.63383	2.457000	0.83068	0.563000	0.77884	TCT	C1orf114	-	NULL	ENSG00000117477		0.378	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	C1orf114	HGNC	protein_coding	OTTHUMT00000086099.1	95	0.00	0	G	NM_021179		169391472	169391472	-1	no_errors	ENST00000367806	ensembl	human	known	69_37n	missense	95	12.84	14	SNP	0.303	C
C3orf30	152405	genome.wustl.edu	37	3	118865255	118865255	+	Silent	SNP	C	C	T	rs374022269		TCGA-GM-A2DF-01A-11D-A17W-09	TCGA-GM-A2DF-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7456abd5-303e-4e6f-bf4e-47efefc7310f	12ca0b20-2f39-43df-a572-28f4069502de	g.chr3:118865255C>T	ENST00000295622.1	+	1	259	c.219C>T	c.(217-219)aaC>aaT	p.N73N	IGSF11_ENST00000354673.2_5'Flank|RP11-484M3.5_ENST00000490594.1_5'Flank|IGSF11_ENST00000425327.2_5'Flank|IGSF11_ENST00000441144.2_5'Flank	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	73										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		AAGCTACCAACGGAGTAGCTG	0.502																																						dbGAP											0													73.0	56.0	62.0					3																	118865255		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK057421	CCDS2984.1	3q13.32	2011-08-09			ENSG00000163424	ENSG00000163424			26553	protein-coding gene	gene with protein product							Standard	NM_152539		Approved	FLJ32859	uc003ecb.1	Q96M34	OTTHUMG00000159349	ENST00000295622.1:c.219C>T	3.37:g.118865255C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A1L4B7	Missense_Mutation	SNP	NULL	p.R37W	ENST00000295622.1	37	c.109	CCDS2984.1	3	.	.	.	.	.	.	.	.	.	.	C	2.001	-0.429447	0.04701	.	.	ENSG00000163424	ENST00000460150	.	.	.	3.31	-2.3	0.06785	.	.	.	.	.	T	0.19725	0.0474	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25047	-1.0143	4	.	.	.	0.0076	2.0643	0.03599	0.1415:0.412:0.254:0.1925	.	.	.	.	W	37	.	.	R	+	1	2	C3orf30	120347945	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.693000	0.05121	-0.535000	0.06307	-1.305000	0.01319	CGG	C3orf30	-	NULL	ENSG00000163424		0.502	C3orf30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf30	HGNC	protein_coding	OTTHUMT00000354838.1	34	0.00	0	C	NM_152539		118865255	118865255	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000460150	ensembl	human	putative	69_37n	missense	18	18.18	4	SNP	0.000	T
CCDC168	643677	genome.wustl.edu	37	13	103385602	103385602	+	Silent	SNP	G	G	A			TCGA-GM-A2DF-01A-11D-A17W-09	TCGA-GM-A2DF-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7456abd5-303e-4e6f-bf4e-47efefc7310f	12ca0b20-2f39-43df-a572-28f4069502de	g.chr13:103385602G>A	ENST00000322527.2	-	1	3557	c.3558C>T	c.(3556-3558)atC>atT	p.I1186I		NM_001146197.1	NP_001139669.1	Q8NDH2	CC168_HUMAN	coiled-coil domain containing 168	1186																	AGTTGGTGACGATACTTATTT	0.413																																						dbGAP											0													164.0	132.0	142.0					13																	103385602		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0				CCDS73596.1	13q33.1	2014-06-17	2011-08-09	2011-08-09	ENSG00000175820	ENSG00000175820			26851	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 40"""	C13orf40			Standard	NM_001146197		Approved	FLJ40176	uc001vpm.3	Q8NDH2	OTTHUMG00000187287	ENST00000322527.2:c.3558C>T	13.37:g.103385602G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N800	Silent	SNP	NULL	p.I1186	ENST00000322527.2	37	c.3558		13																																																																																			CCDC168	-	NULL	ENSG00000175820		0.413	CCDC168-201	KNOWN	basic|appris_principal	protein_coding	CCDC168	HGNC	protein_coding		138	0.00	0	G	NM_001146197		103385602	103385602	-1	no_errors	ENST00000322527	ensembl	human	known	69_37n	silent	113	12.40	16	SNP	0.000	A
CYP4F30P	100132708	genome.wustl.edu	37	2	131438159	131438159	+	RNA	DEL	A	A	-			TCGA-GM-A2DF-01A-11D-A17W-09	TCGA-GM-A2DF-10C-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7456abd5-303e-4e6f-bf4e-47efefc7310f	12ca0b20-2f39-43df-a572-28f4069502de	g.chr2:131438159delA	ENST00000438109.1	+	0	537					NR_023391.1		Q9H0H9	C4F30_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 30, pseudogene																		TCCTAGGCACAGATGGTAATG	0.567																																						dbGAP											0																																										-	-	-			0			AK093281		2q21.1	2013-11-11	2011-07-29	2011-07-29	ENSG00000214081	ENSG00000214081		"""Cytochrome P450s"""	25270	pseudogene	pseudogene			"""chromosome 2 open reading frame 14"""	C2orf14			Standard	NR_023391		Approved	DKFZp434F1719, 4F-se9[6:7:8]	uc002trt.3	Q9H0H9	OTTHUMG00000154046		2.37:g.131438159delA		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	DEL	-	NULL	ENST00000438109.1	37	NULL		2																																																																																			CYP4F30P	-	-	ENSG00000214081		0.567	CYP4F30P-002	KNOWN	basic	processed_transcript	CYP4F30P	HGNC	pseudogene	OTTHUMT00000333660.1	8	0.00	0	A	NR_023391		131438159	131438159	+1	no_errors	ENST00000397485	ensembl	human	known	69_37n	rna	6	33.33	3	DEL	0.102	-
DDX21	9188	genome.wustl.edu	37	10	70723131	70723131	+	Missense_Mutation	SNP	G	G	A			TCGA-GM-A2DF-01A-11D-A17W-09	TCGA-GM-A2DF-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7456abd5-303e-4e6f-bf4e-47efefc7310f	12ca0b20-2f39-43df-a572-28f4069502de	g.chr10:70723131G>A	ENST00000354185.4	+	4	790	c.692G>A	c.(691-693)cGg>cAg	p.R231Q	RN7SL373P_ENST00000577512.1_RNA	NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	231	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|osteoblast differentiation (GO:0001649)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GCACAGGCACGGACAGGAACT	0.473																																						dbGAP											0													146.0	126.0	133.0					10																	70723131		2203	4300	6503	-	-	-	SO:0001583	missense	0			U41387	CCDS31211.1, CCDS73144.1	10q21	2013-05-13	2012-02-23		ENSG00000165732	ENSG00000165732		"""DEAD-boxes"""	2744	protein-coding gene	gene with protein product		606357	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 21"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 21"""			8614622, 18180292	Standard	NM_004728		Approved	RH-II/GU, GURDB	uc001jov.2	Q9NR30	OTTHUMG00000018366	ENST00000354185.4:c.692G>A	10.37:g.70723131G>A	ENSP00000346120:p.Arg231Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDL0|Q13436|Q5VX41|Q68D35	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R231Q	ENST00000354185.4	37	c.692	CCDS31211.1	10	.	.	.	.	.	.	.	.	.	.	G	35	5.522724	0.96431	.	.	ENSG00000165732	ENST00000354185	T	0.54279	0.58	5.4	5.4	0.78164	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.52306	0.1726	N	0.16478	0.41	0.80722	D	1	D	0.67145	0.996	P	0.57720	0.826	T	0.42447	-0.9451	10	0.14656	T	0.56	-1.0263	19.5444	0.95285	0.0:0.0:1.0:0.0	.	231	Q9NR30	DDX21_HUMAN	Q	231	ENSP00000346120:R231Q	ENSP00000346120:R231Q	R	+	2	0	DDX21	70393137	1.000000	0.71417	0.994000	0.49952	0.916000	0.54674	7.588000	0.82629	2.683000	0.91414	0.655000	0.94253	CGG	DDX21	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd	ENSG00000165732		0.473	DDX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX21	HGNC	protein_coding	OTTHUMT00000048374.1	106	0.00	0	G	NM_004728		70723131	70723131	+1	no_errors	ENST00000354185	ensembl	human	known	69_37n	missense	73	10.98	9	SNP	1.000	A
DEF6	50619	genome.wustl.edu	37	6	35277530	35277530	+	Silent	SNP	C	C	T			TCGA-GM-A2DF-01A-11D-A17W-09	TCGA-GM-A2DF-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7456abd5-303e-4e6f-bf4e-47efefc7310f	12ca0b20-2f39-43df-a572-28f4069502de	g.chr6:35277530C>T	ENST00000316637.5	+	2	185	c.180C>T	c.(178-180)gaC>gaT	p.D60D	DEF6_ENST00000542066.1_5'UTR	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	60	Poly-Asp.					cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						ATGATGATGACGGCCCTGTGT	0.577																																						dbGAP											0													170.0	125.0	141.0					6																	35277530		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ276095	CCDS4802.1	6p21.33-p21.1	2013-01-10	2001-11-28		ENSG00000023892	ENSG00000023892		"""Pleckstrin homology (PH) domain containing"""	2760	protein-coding gene	gene with protein product	"""SWAP-70-like adaptor protein of T cells"""	610094	"""differentially expressed in FDCP (mouse homolog) 6"""			19251698	Standard	NM_022047		Approved	IBP, SLAT, SWAP70L	uc003okk.3	Q9H4E7	OTTHUMG00000014563	ENST00000316637.5:c.180C>T	6.37:g.35277530C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86VF4	Missense_Mutation	SNP	NULL	p.R6W	ENST00000316637.5	37	c.16	CCDS4802.1	6	.	.	.	.	.	.	.	.	.	.	C	5.498	0.276948	0.10403	.	.	ENSG00000023892	ENST00000444278	.	.	.	5.22	-5.26	0.02772	.	.	.	.	.	T	0.48960	0.1529	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61282	-0.7094	4	.	.	.	-23.35	14.2879	0.66258	0.0:0.4543:0.0:0.5457	.	.	.	.	W	6	.	.	R	+	1	2	DEF6	35385508	0.000000	0.05858	0.663000	0.29738	0.581000	0.36288	-2.560000	0.00921	-0.952000	0.03649	-2.100000	0.00362	CGG	DEF6	-	NULL	ENSG00000023892		0.577	DEF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEF6	HGNC	protein_coding	OTTHUMT00000040276.1	65	0.00	0	C	NM_022047		35277530	35277530	+1	no_start_codon:pseudogene:no_stop_codon	ENST00000444278	ensembl	human	known	69_37n	missense	61	28.24	24	SNP	0.753	T
DENND4B	9909	genome.wustl.edu	37	1	153912704	153912704	+	Missense_Mutation	SNP	G	G	C	rs567357573		TCGA-GM-A2DF-01A-11D-A17W-09	TCGA-GM-A2DF-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7456abd5-303e-4e6f-bf4e-47efefc7310f	12ca0b20-2f39-43df-a572-28f4069502de	g.chr1:153912704G>C	ENST00000361217.4	-	11	1949	c.1531C>G	c.(1531-1533)Cgg>Ggg	p.R511G		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	511					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGCAGGGTCCGAGGGGAGAGG	0.602																																						dbGAP											0													44.0	45.0	45.0					1																	153912704		1901	4121	6022	-	-	-	SO:0001583	missense	0			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.1531C>G	1.37:g.153912704G>C	ENSP00000354597:p.Arg511Gly	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T4K0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.R511G	ENST00000361217.4	37	c.1531	CCDS44228.1	1	.	.	.	.	.	.	.	.	.	.	G	19.80	3.894565	0.72639	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.07444	3.19;3.19	4.72	1.59	0.23543	.	0.071171	0.56097	D	0.000033	T	0.03305	0.0096	L	0.44542	1.39	0.45342	D	0.998337	B	0.13145	0.007	B	0.10450	0.005	T	0.18461	-1.0336	10	0.87932	D	0	-24.7135	9.8153	0.40849	0.0:0.1264:0.6009:0.2726	.	511	O75064	DEN4B_HUMAN	G	511;522	ENSP00000354597:R511G;ENSP00000357635:R522G	ENSP00000354597:R511G	R	-	1	2	DENND4B	152179328	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.252000	0.32874	1.152000	0.42452	0.563000	0.77884	CGG	DENND4B	-	NULL	ENSG00000198837		0.602	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	HGNC	protein_coding	OTTHUMT00000090278.2	88	0.00	0	G	XM_375806		153912704	153912704	-1	no_errors	ENST00000361217	ensembl	human	known	69_37n	missense	63	12.50	9	SNP	1.000	C
DISP2	85455	genome.wustl.edu	37	15	40661552	40661552	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A2DF-01A-11D-A17W-09	TCGA-GM-A2DF-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7456abd5-303e-4e6f-bf4e-47efefc7310f	12ca0b20-2f39-43df-a572-28f4069502de	g.chr15:40661552C>T	ENST00000267889.3	+	8	3326	c.3239C>T	c.(3238-3240)gCc>gTc	p.A1080V	RP11-64K12.4_ENST00000558421.1_RNA|LINC00594_ENST00000561261.1_lincRNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1080					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		ATGCTGCCTGCCACAGTGCTG	0.602																																						dbGAP											0													46.0	42.0	44.0					15																	40661552		2201	4298	6499	-	-	-	SO:0001583	missense	0			AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.3239C>T	15.37:g.40661552C>T	ENSP00000267889:p.Ala1080Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6AHW3|Q9C0C1	Missense_Mutation	SNP	pfscan_SSD	p.A1080V	ENST00000267889.3	37	c.3239	CCDS10056.1	15	.	.	.	.	.	.	.	.	.	.	C	21.2	4.118378	0.77323	.	.	ENSG00000140323	ENST00000267889	T	0.11712	2.75	4.88	4.88	0.63580	.	0.106709	0.64402	D	0.000005	T	0.28333	0.0700	L	0.58101	1.795	0.80722	D	1	D	0.63046	0.992	P	0.61592	0.891	T	0.00981	-1.1492	10	0.66056	D	0.02	-12.7197	18.2241	0.89911	0.0:1.0:0.0:0.0	.	1080	A7MBM2	DISP2_HUMAN	V	1080	ENSP00000267889:A1080V	ENSP00000267889:A1080V	A	+	2	0	DISP2	38448844	1.000000	0.71417	0.896000	0.35187	0.843000	0.47879	7.637000	0.83313	2.527000	0.85204	0.511000	0.50034	GCC	DISP2	-	NULL	ENSG00000140323		0.602	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DISP2	HGNC	protein_coding	OTTHUMT00000252249.1	36	0.00	0	C	NM_033510		40661552	40661552	+1	no_errors	ENST00000267889	ensembl	human	known	69_37n	missense	17	22.73	5	SNP	1.000	T
DKC1	1736	genome.wustl.edu	37	X	153996568	153996568	+	Intron	SNP	G	G	A			TCGA-GM-A2DF-01A-11D-A17W-09	TCGA-GM-A2DF-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7456abd5-303e-4e6f-bf4e-47efefc7310f	12ca0b20-2f39-43df-a572-28f4069502de	g.chrX:153996568G>A	ENST00000369550.5	+	8	850				SNORA36A_ENST00000384221.1_RNA	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin						cell proliferation (GO:0008283)|pseudouridine synthesis (GO:0001522)|RNA processing (GO:0006396)|rRNA processing (GO:0006364)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)|RNA binding (GO:0003723)|telomerase activity (GO:0003720)			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTGTGTGTGTGTATCTTAGGA	0.448									Congenital Dyskeratosis																													dbGAP											0													230.0	200.0	210.0					X																	153996568		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0	Familial Cancer Database	Zinsser-Engman-Cole syndrome, Dyskeratosis Congenita	AJ224481	CCDS14761.1, CCDS76062.1	Xq28	2014-09-17			ENSG00000130826	ENSG00000130826			2890	protein-coding gene	gene with protein product		300126		DKC		9590285, 9888995	Standard	NM_001142463		Approved	XAP101, dyskerin, NAP57, NOLA4	uc004fmm.3	O60832	OTTHUMG00000024242	ENST00000369550.5:c.641-9G>A	X.37:g.153996568G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	F5BSB3|O43845|Q96G67|Q9Y505	Silent	SNP	pfam_Dyskerin-like,pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom,tigrfam_Pseudouridine_synthase-related	p.V207	ENST00000369550.5	37	c.621	CCDS14761.1	X																																																																																			DKC1	-	superfamily_PsdUridine_synth_cat_dom,tigrfam_Pseudouridine_synthase-related	ENSG00000130826		0.448	DKC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DKC1	HGNC	protein_coding	OTTHUMT00000061180.5	257	0.00	0	G	NM_001363		153996568	153996568	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000437719	ensembl	human	novel	69_37n	silent	248	11.70	33	SNP	0.000	A
EMR2	30817	genome.wustl.edu	37	19	14865766	14865766	+	Splice_Site	SNP	C	C	A			TCGA-GM-A2DF-01A-11D-A17W-09	TCGA-GM-A2DF-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7456abd5-303e-4e6f-bf4e-47efefc7310f	12ca0b20-2f39-43df-a572-28f4069502de	g.chr19:14865766C>A	ENST00000315576.3	-	14	2041	c.1590G>T	c.(1588-1590)caG>caT	p.Q530H	EMR2_ENST00000594294.1_Splice_Site_p.Q481H|EMR2_ENST00000601345.1_Splice_Site_p.Q519H|EMR2_ENST00000346057.1_Splice_Site_p.Q481H|EMR2_ENST00000392965.3_Intron|EMR2_ENST00000392967.2_Splice_Site_p.Q519H|EMR2_ENST00000595839.1_Splice_Site_p.Q388H|EMR2_ENST00000596991.2_Splice_Site_p.Q519H|EMR2_ENST00000353876.1_Splice_Site_p.Q437H|EMR2_ENST00000594076.1_Splice_Site_p.Q437H|EMR2_ENST00000353005.1_Splice_Site_p.Q388H|EMR2_ENST00000392964.3_Splice_Site_p.G195*	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	530					cell adhesion (GO:0007155)|cell migration (GO:0016477)|G-protein coupled receptor signaling pathway (GO:0007186)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|leading edge membrane (GO:0031256)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chondroitin sulfate binding (GO:0035374)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						AGGGTCTCACCTGCACATCGT	0.517																																						dbGAP											0													125.0	97.0	107.0					19																	14865766		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF114491	CCDS32935.1, CCDS59361.1	19p13.1	2014-08-08	2003-11-26			ENSG00000127507		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	3337	protein-coding gene	gene with protein product		606100	"""egf-like module containing, mucin-like, hormone receptor-like sequence 2"""				Standard	NM_013447		Approved	CD312	uc002mzp.2	Q9UHX3		ENST00000315576.3:c.1590+1G>T	19.37:g.14865766C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQ96|E7ESD7|E9PBR1|E9PEL6|E9PFQ5|E9PG91|Q8NG96|Q9Y4B1	Nonsense_Mutation	SNP	prints_GPCR_2_CD97	p.G195*	ENST00000315576.3	37	c.583	CCDS32935.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	28.8|28.8	4.948246|4.948246	0.92593|0.92593	.|.	.|.	ENSG00000127507|ENSG00000127507	ENST00000392964|ENST00000315576;ENST00000392967;ENST00000346057;ENST00000353876;ENST00000353005	.|T;T;T;T;T	.|0.37411	.|1.2;1.2;1.2;1.2;1.2	4.05|4.05	4.05|4.05	0.47172|0.47172	.|.	.|.	.|.	.|.	.|.	.|T	.|0.54143	.|0.1840	M|M	0.64567|0.64567	1.98|1.98	0.80722|0.80722	D|D	1|1	.|P;D;P;P;D;D;D	.|0.89917	.|0.553;1.0;0.937;0.887;0.997;0.999;0.999	.|B;D;P;P;P;D;D	.|0.76071	.|0.373;0.987;0.561;0.646;0.894;0.928;0.967	.|T	.|0.53408	.|-0.8443	.|8	.|.	.|.	.|.	.|.	12.4281|12.4281	0.55559|0.55559	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|437;530;388;481;530;530;519	.|Q9UHX3-4;A0JNV7;Q9UHX3-5;Q9UHX3-3;A8K6W1;Q9UHX3;Q9UHX3-2	.|.;.;.;.;.;EMR2_HUMAN;.	X|H	195|530;519;481;437;388	.|ENSP00000319883:Q530H;ENSP00000376694:Q519H;ENSP00000263380:Q481H;ENSP00000319454:Q437H;ENSP00000319838:Q388H	.|.	G|Q	-|-	1|3	0|2	EMR2|EMR2	14726766|14726766	1.000000|1.000000	0.71417|0.71417	0.993000|0.993000	0.49108|0.49108	0.061000|0.061000	0.15899|0.15899	4.577000|4.577000	0.60922|0.60922	2.172000|2.172000	0.68678|0.68678	0.508000|0.508000	0.49915|0.49915	GGA|CAG	EMR2	-	NULL	ENSG00000127507		0.517	EMR2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	EMR2	HGNC	protein_coding	OTTHUMT00000466502.2	61	0.00	0	C		Missense_Mutation	14865766	14865766	-1	no_errors	ENST00000392964	ensembl	human	known	69_37n	nonsense	30	26.83	11	SNP	0.999	A
GLB1	2720	genome.wustl.edu	37	3	33055654	33055654	+	Missense_Mutation	SNP	G	G	A			TCGA-GM-A2DF-01A-11D-A17W-09	TCGA-GM-A2DF-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7456abd5-303e-4e6f-bf4e-47efefc7310f	12ca0b20-2f39-43df-a572-28f4069502de	g.chr3:33055654G>A	ENST00000399402.3	-	15	1669	c.1538C>T	c.(1537-1539)tCa>tTa	p.S513L	GLB1_ENST00000497796.1_5'UTR|GLB1_ENST00000445488.2_Missense_Mutation_p.S591L|GLB1_ENST00000307363.5_Missense_Mutation_p.S543L|GLB1_ENST00000307377.8_Missense_Mutation_p.S412L	NM_001079811.1	NP_001073279	P16278	BGAL_HUMAN	galactosidase, beta 1	543					carbohydrate metabolic process (GO:0005975)|galactose catabolic process (GO:0019388)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|glycosphingolipid metabolic process (GO:0006687)|keratan sulfate catabolic process (GO:0042340)|keratan sulfate metabolic process (GO:0042339)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)	beta-galactosidase activity (GO:0004565)|galactoside binding (GO:0016936)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				GTAGTTGGATGAGTTGTGGGC	0.572																																						dbGAP											0													107.0	111.0	109.0					3																	33055654		1986	4155	6141	-	-	-	SO:0001583	missense	0			M22590	CCDS43061.1, CCDS43062.1, CCDS46785.1	3p22.3	2012-10-02			ENSG00000170266	ENSG00000170266	3.2.1.23		4298	protein-coding gene	gene with protein product		611458	"""elastin receptor 1, 67kDa"", ""elastin receptor 1 (67kD)"""	ELNR1		110522, 3143362	Standard	NM_000404		Approved	EBP	uc003cfi.1	P16278	OTTHUMG00000155781	ENST00000399402.3:c.1538C>T	3.37:g.33055654G>A	ENSP00000382333:p.Ser513Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7H8|B7Z6B0|P16279	Missense_Mutation	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.S591L	ENST00000399402.3	37	c.1772	CCDS43062.1	3	.	.	.	.	.	.	.	.	.	.	G	13.48	2.250127	0.39797	.	.	ENSG00000170266	ENST00000399402;ENST00000307363;ENST00000445488;ENST00000307377	D;D;D;D	0.92446	-3.04;-3.04;-3.04;-3.04	5.82	5.82	0.92795	Galactose-binding domain-like (1);	0.220616	0.47852	D	0.000206	D	0.89560	0.6750	L	0.45137	1.4	0.09310	N	1	B;B;B;B	0.18166	0.005;0.026;0.002;0.017	B;B;B;B	0.25987	0.012;0.065;0.003;0.005	T	0.76721	-0.2855	10	0.25751	T	0.34	-1.9082	17.6606	0.88192	0.0:0.0:1.0:0.0	.	543;412;543;591	Q53G40;E7EQ29;P16278;B7Z6Q5	.;.;BGAL_HUMAN;.	L	513;543;591;412	ENSP00000382333:S513L;ENSP00000306920:S543L;ENSP00000393377:S591L;ENSP00000305920:S412L	ENSP00000306920:S543L	S	-	2	0	GLB1	33030658	0.983000	0.35010	0.013000	0.15412	0.069000	0.16628	6.771000	0.74996	2.770000	0.95276	0.650000	0.86243	TCA	GLB1	-	superfamily_Galactose-bd-like	ENSG00000170266		0.572	GLB1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	GLB1	HGNC	protein_coding	OTTHUMT00000341570.2	104	0.00	0	G	NM_000404		33055654	33055654	-1	no_errors	ENST00000445488	ensembl	human	known	69_37n	missense	61	40.20	41	SNP	0.011	A
ING1	3621	genome.wustl.edu	37	13	111366554	111366554	+	5'Flank	SNP	C	C	G			TCGA-GM-A2DF-01A-11D-A17W-09	TCGA-GM-A2DF-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7456abd5-303e-4e6f-bf4e-47efefc7310f	12ca0b20-2f39-43df-a572-28f4069502de	g.chr13:111366554C>G	ENST00000375774.3	+	0	0				ING1_ENST00000375775.3_Intron|ING1_ENST00000338450.7_Intron|CARS2_ENST00000535398.1_5'Flank|ING1_ENST00000333219.7_Missense_Mutation_p.L20V	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1						cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GGAGGACTACCTGGACTCCAT	0.612																																						dbGAP											0													78.0	62.0	67.0					13																	111366554		2203	4300	6503	-	-	-	SO:0001631	upstream_gene_variant	0				CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"""Zinc fingers, PHD-type"""	6062	protein-coding gene	gene with protein product	"""inhibitor of growth 1"", ""tumor suppressor ING1"", ""growth inhibitor ING1"", ""growth inhibitory protein ING1"""	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346		13.37:g.111366554C>G	Exception_encountered	Somatic		WXS	Illumina GAIIx	Phase_IV	O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Missense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.L20V	ENST00000375774.3	37	c.58	CCDS9517.1	13	.	.	.	.	.	.	.	.	.	.	C	12.64	1.998125	0.35226	.	.	ENSG00000153487	ENST00000333219	.	.	.	3.29	3.29	0.37713	.	.	.	.	.	T	0.66781	0.2824	M	0.80332	2.49	0.80722	D	1	B	0.30634	0.288	B	0.39339	0.297	T	0.66763	-0.5841	8	0.38643	T	0.18	.	10.7902	0.46428	0.1905:0.8095:0.0:0.0	.	20	Q5T9H0	.	V	20	.	ENSP00000328436:L20V	L	+	1	2	ING1	110164555	0.998000	0.40836	1.000000	0.80357	0.412000	0.31113	0.578000	0.23773	1.375000	0.46248	0.561000	0.74099	CTG	ING1	-	NULL	ENSG00000153487		0.612	ING1-004	KNOWN	basic|CCDS	protein_coding	ING1	HGNC	protein_coding	OTTHUMT00000045770.2	31	0.00	0	C	NM_005537		111366554	111366554	+1	no_errors	ENST00000333219	ensembl	human	known	69_37n	missense	23	72.29	60	SNP	1.000	G
ING1	3621	genome.wustl.edu	37	13	111368180	111368180	+	Silent	SNP	C	C	G			TCGA-GM-A2DF-01A-11D-A17W-09	TCGA-GM-A2DF-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7456abd5-303e-4e6f-bf4e-47efefc7310f	12ca0b20-2f39-43df-a572-28f4069502de	g.chr13:111368180C>G	ENST00000375774.3	+	1	852	c.390C>G	c.(388-390)ctC>ctG	p.L130L	ING1_ENST00000375775.3_Intron|ING1_ENST00000464141.1_Intron|ING1_ENST00000338450.7_Intron|CARS2_ENST00000535398.1_5'Flank|ING1_ENST00000333219.7_Intron	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	130					cell cycle (GO:0007049)|chromatin modification (GO:0016568)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell death (GO:0010941)	nucleus (GO:0005634)	methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TCTCCCCGCTCAGCCCGGCCA	0.736																																						dbGAP											0													7.0	9.0	9.0					13																	111368180		1999	4086	6085	-	-	-	SO:0001819	synonymous_variant	0				CCDS9515.1, CCDS9516.1, CCDS9517.1, CCDS9518.1	13q34	2013-01-28			ENSG00000153487	ENSG00000153487		"""Zinc fingers, PHD-type"""	6062	protein-coding gene	gene with protein product	"""inhibitor of growth 1"", ""tumor suppressor ING1"", ""growth inhibitor ING1"", ""growth inhibitory protein ING1"""	601566				8944021, 9186514	Standard	NM_198219		Approved	p33ING1, p33ING1b, p24ING1c, p33, p47, p47ING1a	uc001vri.3	Q9UK53	OTTHUMG00000017346	ENST00000375774.3:c.390C>G	13.37:g.111368180C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O00532|O43658|Q53ZR3|Q5T9G8|Q5T9G9|Q5T9H0|Q5T9H1|Q9H007|Q9HD98|Q9HD99|Q9NS83|Q9P0U6|Q9UBC6|Q9UIJ1|Q9UIJ2|Q9UIJ3|Q9UIJ4|Q9UK52	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.L130	ENST00000375774.3	37	c.390	CCDS9517.1	13																																																																																			ING1	-	NULL	ENSG00000153487		0.736	ING1-004	KNOWN	basic|CCDS	protein_coding	ING1	HGNC	protein_coding	OTTHUMT00000045770.2	14	0.00	0	C	NM_005537		111368180	111368180	+1	no_errors	ENST00000375774	ensembl	human	known	69_37n	silent	20	74.36	58	SNP	0.000	G
KLHL26	55295	genome.wustl.edu	37	19	18779780	18779780	+	Missense_Mutation	SNP	G	G	A			TCGA-GM-A2DF-01A-11D-A17W-09	TCGA-GM-A2DF-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7456abd5-303e-4e6f-bf4e-47efefc7310f	12ca0b20-2f39-43df-a572-28f4069502de	g.chr19:18779780G>A	ENST00000300976.4	+	3	1663	c.1573G>A	c.(1573-1575)Gac>Aac	p.D525N	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	525										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CCGCTGCTTCGACGTGCTGGC	0.701																																						dbGAP											0													51.0	49.0	50.0					19																	18779780		2203	4298	6501	-	-	-	SO:0001583	missense	0				CCDS12384.1	19p13.11	2013-10-15	2013-02-22		ENSG00000167487	ENSG00000167487		"""Kelch-like"", ""BTB/POZ domain containing"""	25623	protein-coding gene	gene with protein product			"""kelch-like 26 (Drosophila)"""				Standard	XM_006722785		Approved		uc002njz.1	Q53HC5	OTTHUMG00000183114	ENST00000300976.4:c.1573G>A	19.37:g.18779780G>A	ENSP00000300976:p.Asp525Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TAP0|Q9NUX3	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.D525N	ENST00000300976.4	37	c.1573	CCDS12384.1	19	.	.	.	.	.	.	.	.	.	.	G	17.56	3.421109	0.62622	.	.	ENSG00000167487	ENST00000300976	T	0.66815	-0.23	4.49	4.49	0.54785	Galactose oxidase, beta-propeller (1);	0.000000	0.85682	D	0.000000	T	0.56247	0.1972	L	0.37750	1.13	0.80722	D	1	D	0.55605	0.972	B	0.40602	0.334	T	0.58831	-0.7567	9	.	.	.	.	16.1797	0.81890	0.0:0.0:1.0:0.0	.	525	Q53HC5	KLH26_HUMAN	N	525	ENSP00000300976:D525N	.	D	+	1	0	KLHL26	18640780	1.000000	0.71417	0.991000	0.47740	0.979000	0.70002	9.558000	0.98132	2.060000	0.61445	0.462000	0.41574	GAC	KLHL26	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin	ENSG00000167487		0.701	KLHL26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL26	HGNC	protein_coding	OTTHUMT00000465145.1	23	0.00	0	G	NM_018316		18779780	18779780	+1	no_errors	ENST00000300976	ensembl	human	known	69_37n	missense	9	35.71	5	SNP	1.000	A
LRP6	4040	genome.wustl.edu	37	12	12397448	12397448	+	Missense_Mutation	SNP	T	T	C			TCGA-GM-A2DF-01A-11D-A17W-09	TCGA-GM-A2DF-10C-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7456abd5-303e-4e6f-bf4e-47efefc7310f	12ca0b20-2f39-43df-a572-28f4069502de	g.chr12:12397448T>C	ENST00000261349.4	-	2	273	c.197A>G	c.(196-198)tAc>tGc	p.Y66C	LRP6_ENST00000543091.1_Missense_Mutation_p.Y66C	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	66	Beta-propeller 1.				anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				ATCACTCCAGTATATCAAGCC	0.438																																						dbGAP											0													122.0	102.0	109.0					12																	12397448		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.197A>G	12.37:g.12397448T>C	ENSP00000261349:p.Tyr66Cys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q17RZ2	Missense_Mutation	SNP	pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EGF-like,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.Y66C	ENST00000261349.4	37	c.197	CCDS8647.1	12	.	.	.	.	.	.	.	.	.	.	T	16.80	3.224420	0.58668	.	.	ENSG00000070018	ENST00000261349;ENST00000543091	D;D	0.93426	-3.22;-3.22	5.04	5.04	0.67666	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.48286	U	0.000199	D	0.95680	0.8595	M	0.72576	2.205	0.80722	D	1	D;P	0.89917	1.0;0.633	D;B	0.66351	0.943;0.227	D	0.95016	0.8156	10	0.37606	T	0.19	.	14.9552	0.71107	0.0:0.0:0.0:1.0	.	66;66	F5H7J9;O75581	.;LRP6_HUMAN	C	66	ENSP00000261349:Y66C;ENSP00000442472:Y66C	ENSP00000261349:Y66C	Y	-	2	0	LRP6	12288715	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.538000	0.45710	2.123000	0.65237	0.377000	0.23210	TAC	LRP6	-	pirsf_Low_density_Lipo_rcpt-rel_p5/6,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt	ENSG00000070018		0.438	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP6	HGNC	protein_coding	OTTHUMT00000400137.1	126	0.00	0	T			12397448	12397448	-1	no_errors	ENST00000261349	ensembl	human	known	69_37n	missense	84	18.27	19	SNP	1.000	C
MARCO	8685	genome.wustl.edu	37	2	119750776	119750776	+	Nonsense_Mutation	SNP	G	G	A			TCGA-GM-A2DF-01A-11D-A17W-09	TCGA-GM-A2DF-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7456abd5-303e-4e6f-bf4e-47efefc7310f	12ca0b20-2f39-43df-a572-28f4069502de	g.chr2:119750776G>A	ENST00000327097.4	+	16	1464	c.1329G>A	c.(1327-1329)tgG>tgA	p.W443*	MARCO_ENST00000541757.1_Nonsense_Mutation_p.W365*	NM_006770.3	NP_006761.1	Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	443	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic cell clearance (GO:0043277)|cell surface receptor signaling pathway (GO:0007166)|innate immune response (GO:0045087)|pattern recognition receptor signaling pathway (GO:0002221)	collagen trimer (GO:0005581)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GTGGTACCTGGGGGACAATTT	0.522																																					GBM(8;18 374 7467 11269 32796)	dbGAP											0													174.0	164.0	167.0					2																	119750776		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF035819	CCDS2124.1	2q14.2	2011-10-11			ENSG00000019169	ENSG00000019169			6895	protein-coding gene	gene with protein product	"""scavenger receptor class A, member 2"""	604870				9468508, 7867067, 10331948	Standard	NM_006770		Approved	SCARA2	uc002tln.1	Q9UEW3	OTTHUMG00000131400	ENST00000327097.4:c.1329G>A	2.37:g.119750776G>A	ENSP00000318916:p.Trp443*	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DW79|Q9Y5S3	Nonsense_Mutation	SNP	pfam_Collagen,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt	p.W443*	ENST00000327097.4	37	c.1329	CCDS2124.1	2	.	.	.	.	.	.	.	.	.	.	G	37	6.092443	0.97276	.	.	ENSG00000019169	ENST00000327097;ENST00000541757	.	.	.	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.144	0.81551	0.0:0.0:1.0:0.0	.	.	.	.	X	443;365	.	.	W	+	3	0	MARCO	119467246	1.000000	0.71417	1.000000	0.80357	0.165000	0.22458	6.932000	0.75869	2.884000	0.98904	0.655000	0.94253	TGG	MARCO	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt	ENSG00000019169		0.522	MARCO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCO	HGNC	protein_coding	OTTHUMT00000254190.2	112	0.00	0	G	NM_006770		119750776	119750776	+1	no_errors	ENST00000327097	ensembl	human	known	69_37n	nonsense	102	11.30	13	SNP	1.000	A
OGG1	4968	genome.wustl.edu	37	3	9798276	9798276	+	Missense_Mutation	SNP	G	G	A			TCGA-GM-A2DF-01A-11D-A17W-09	TCGA-GM-A2DF-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7456abd5-303e-4e6f-bf4e-47efefc7310f	12ca0b20-2f39-43df-a572-28f4069502de	g.chr3:9798276G>A	ENST00000344629.7	+	5	1212	c.869G>A	c.(868-870)gGa>gAa	p.G290E	OGG1_ENST00000449570.2_Missense_Mutation_p.G290E|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000302003.7_Missense_Mutation_p.G290E|OGG1_ENST00000302036.7_Missense_Mutation_p.G290E|OGG1_ENST00000302008.8_Missense_Mutation_p.G290E|OGG1_ENST00000339511.5_Missense_Mutation_p.G290E|OGG1_ENST00000349503.5_Intron			O15527	OGG1_HUMAN	8-oxoguanine DNA glycosylase	290					acute inflammatory response (GO:0002526)|base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|cellular response to cadmium ion (GO:0071276)|depurination (GO:0045007)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|regulation of protein import into nucleus, translocation (GO:0033158)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	8-oxo-7,8-dihydroguanine DNA N-glycosylase activity (GO:0034039)|damaged DNA binding (GO:0003684)|endonuclease activity (GO:0004519)|oxidized purine nucleobase lesion DNA N-glycosylase activity (GO:0008534)			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					CAGGCGAAGGGACCGAGCCCC	0.597								Base excision repair (BER), DNA glycosylases																														dbGAP											0													59.0	61.0	60.0					3																	9798276		2203	4300	6503	-	-	-	SO:0001583	missense	0			U96710	CCDS2576.1, CCDS2577.1, CCDS2578.1, CCDS2579.1, CCDS2580.1, CCDS2581.1, CCDS43046.1, CCDS46742.1	3p26	2010-11-23			ENSG00000114026	ENSG00000114026	3.2.2.-, 4.2.99.18		8125	protein-coding gene	gene with protein product	"""8-hydroxyguanine DNA glycosylase"", ""OGG1 type 1e"", ""OGG1 type 1d"", ""OGG1 type 1g"", ""OGG1 type 1h"""	601982				9207108, 10449904	Standard	NM_002542		Approved	HMMH, HOGG1, OGH1, MUTM	uc003bsj.3	O15527	OTTHUMG00000097091	ENST00000344629.7:c.869G>A	3.37:g.9798276G>A	ENSP00000342851:p.Gly290Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1E3|O00390|O00670|O00705|O14876|O95488|P78554|Q9BW42|Q9UIK0|Q9UIK1|Q9UIK2|Q9UL34|Q9Y2C0|Q9Y2C1|Q9Y6C3|Q9Y6C4	Missense_Mutation	SNP	pfam_OGG_N,pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,smart_HhH-GPD_domain,tigrfam_Ogg	p.G290E	ENST00000344629.7	37	c.869	CCDS2581.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.18|14.18	2.458302|2.458302	0.43634|0.43634	.|.	.|.	ENSG00000114026|ENSG00000114026	ENST00000441094;ENST00000416333|ENST00000302003;ENST00000344629;ENST00000302036;ENST00000339511;ENST00000449570;ENST00000302008	.|T;T;T;T;T;T	.|0.51817	.|0.69;0.69;0.69;0.69;0.69;0.69	5.43|5.43	5.43|5.43	0.79202|0.79202	.|HhH-GPD domain (1);DNA glycosylase (1);Helix-turn-helix, base-excision DNA repair, C-terminal (1);	.|0.291442	.|0.41194	.|D	.|0.000931	T|T	0.36826|0.36826	0.0981|0.0981	N|N	0.08118|0.08118	0|0	0.37088|0.37088	D|D	0.899287|0.899287	.|P;P;D;P;P;P;P;P	.|0.55800	.|0.55;0.926;0.973;0.719;0.886;0.94;0.55;0.74	.|B;B;P;B;B;P;B;B	.|0.48488	.|0.306;0.444;0.494;0.314;0.16;0.579;0.306;0.073	T|T	0.49504|0.49504	-0.8933|-0.8933	5|10	.|0.56958	.|D	.|0.05	-10.1959|-10.1959	14.9856|14.9856	0.71345|0.71345	0.0:0.1415:0.8584:0.0|0.0:0.1415:0.8584:0.0	.|.	.|290;290;290;290;290;290;290;290	.|E5KPN1;O15527-3;E5KPM5;E5KPM7;E5KPM9;E5KPN0;O15527;O15527-2	.|.;.;.;.;.;.;OGG1_HUMAN;.	N|E	188;57|290	.|ENSP00000305584:G290E;ENSP00000342851:G290E;ENSP00000306561:G290E;ENSP00000345520:G290E;ENSP00000403598:G290E;ENSP00000305527:G290E	.|ENSP00000305584:G290E	D|G	+|+	1|2	0|0	OGG1|OGG1	9773276|9773276	0.466000|0.466000	0.25823|0.25823	0.742000|0.742000	0.31022|0.31022	0.287000|0.287000	0.27160|0.27160	2.268000|2.268000	0.43338|0.43338	2.695000|2.695000	0.91970|0.91970	0.655000|0.655000	0.94253|0.94253	GAC|GGA	OGG1	-	superfamily_DNA_glycosylase,smart_HhH-GPD_domain,tigrfam_Ogg	ENSG00000114026		0.597	OGG1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	OGG1	HGNC	protein_coding	OTTHUMT00000214223.2	42	0.00	0	G	NM_016821		9798276	9798276	+1	no_errors	ENST00000302036	ensembl	human	known	69_37n	missense	34	32.00	16	SNP	0.129	A
OR4D6	219983	genome.wustl.edu	37	11	59225149	59225149	+	Missense_Mutation	SNP	C	C	A			TCGA-GM-A2DF-01A-11D-A17W-09	TCGA-GM-A2DF-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7456abd5-303e-4e6f-bf4e-47efefc7310f	12ca0b20-2f39-43df-a572-28f4069502de	g.chr11:59225149C>A	ENST00000300127.2	+	1	739	c.716C>A	c.(715-717)aCg>aAg	p.T239K		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	239						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.T239M(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						GCCCTCTCCACGTGCACGTCC	0.582																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											120.0	107.0	111.0					11																	59225149		2201	4295	6496	-	-	-	SO:0001583	missense	0			AB065803	CCDS31562.1	11q12.1	2012-08-09			ENSG00000166884	ENSG00000166884		"""GPCR / Class A : Olfactory receptors"""	15175	protein-coding gene	gene with protein product							Standard	NM_001004708		Approved		uc010rku.2	Q8NGJ1	OTTHUMG00000167340	ENST00000300127.2:c.716C>A	11.37:g.59225149C>A	ENSP00000300127:p.Thr239Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNP7|Q6IFF5|Q96R74	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.T239K	ENST00000300127.2	37	c.716	CCDS31562.1	11	.	.	.	.	.	.	.	.	.	.	C	17.59	3.428495	0.62844	.	.	ENSG00000166884	ENST00000300127	T	0.35605	1.3	6.01	5.09	0.68999	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000039	T	0.77370	0.4120	H	0.99565	4.63	0.48830	D	0.99971	D	0.89917	1.0	D	0.97110	1.0	D	0.87848	0.2656	10	0.87932	D	0	-21.7031	15.3738	0.74587	0.1406:0.8594:0.0:0.0	.	239	Q8NGJ1	OR4D6_HUMAN	K	239	ENSP00000300127:T239K	ENSP00000300127:T239K	T	+	2	0	OR4D6	58981725	1.000000	0.71417	1.000000	0.80357	0.207000	0.24258	7.721000	0.84768	1.516000	0.48900	0.655000	0.94253	ACG	OR4D6	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt	ENSG00000166884		0.582	OR4D6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4D6	HGNC	protein_coding	OTTHUMT00000394234.1	92	0.00	0	C	NM_001004708		59225149	59225149	+1	no_errors	ENST00000300127	ensembl	human	known	69_37n	missense	68	12.82	10	SNP	1.000	A
OR10G4	390264	genome.wustl.edu	37	11	123886964	123886964	+	Missense_Mutation	SNP	G	G	A			TCGA-GM-A2DF-01A-11D-A17W-09	TCGA-GM-A2DF-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7456abd5-303e-4e6f-bf4e-47efefc7310f	12ca0b20-2f39-43df-a572-28f4069502de	g.chr11:123886964G>A	ENST00000320891.4	+	1	683	c.683G>A	c.(682-684)cGc>cAc	p.R228H		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CTGCGGATCCGCACCTCAGAT	0.522																																						dbGAP											0													183.0	149.0	161.0					11																	123886964		2201	4299	6500	-	-	-	SO:0001583	missense	0			AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.683G>A	11.37:g.123886964G>A	ENSP00000325076:p.Arg228His	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6IEW0	Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.R228H	ENST00000320891.4	37	c.683	CCDS31702.1	11	.	.	.	.	.	.	.	.	.	.	g	1.352	-0.591230	0.03799	.	.	ENSG00000254737	ENST00000320891	T	0.39229	1.09	3.33	0.339	0.15979	GPCR, rhodopsin-like superfamily (1);	0.420315	0.20410	N	0.092861	T	0.19167	0.0460	N	0.17723	0.515	0.09310	N	1	B	0.11235	0.004	B	0.15870	0.014	T	0.24799	-1.0150	10	0.07175	T	0.84	.	4.7756	0.13178	0.3277:0.2947:0.3776:0.0	.	228	Q8NGN3	O10G4_HUMAN	H	228	ENSP00000325076:R228H	ENSP00000325076:R228H	R	+	2	0	OR10G4	123392174	0.000000	0.05858	0.480000	0.27341	0.267000	0.26476	-0.072000	0.11486	-0.027000	0.13873	-0.233000	0.12211	CGC	OR10G4	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000254737		0.522	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G4	HGNC	protein_coding	OTTHUMT00000387268.1	329	0.00	0	G	NM_001004462		123886964	123886964	+1	no_errors	ENST00000320891	ensembl	human	known	69_37n	missense	178	20.18	45	SNP	0.008	A
PTPRF	5792	genome.wustl.edu	37	1	44086512	44086512	+	Missense_Mutation	SNP	G	G	C			TCGA-GM-A2DF-01A-11D-A17W-09	TCGA-GM-A2DF-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7456abd5-303e-4e6f-bf4e-47efefc7310f	12ca0b20-2f39-43df-a572-28f4069502de	g.chr1:44086512G>C	ENST00000359947.4	+	32	5708	c.5368G>C	c.(5368-5370)Ggg>Cgg	p.G1790R	PTPRF_ENST00000438120.1_Missense_Mutation_p.G1781R|PTPRF_ENST00000372413.3_Missense_Mutation_p.G1781R|PTPRF_ENST00000372414.3_Missense_Mutation_p.G1790R|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000422171.2_Missense_Mutation_p.G1149R	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1790	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				cell adhesion (GO:0007155)|cell migration (GO:0016477)|negative regulation of receptor binding (GO:1900121)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	heparin binding (GO:0008201)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TTCCCAGGATGGGCAGTCAAG	0.562																																						dbGAP											0													69.0	60.0	63.0					1																	44086512		2203	4300	6503	-	-	-	SO:0001583	missense	0			Y00815	CCDS489.2, CCDS490.2	1p34	2013-02-11			ENSG00000142949	ENSG00000142949		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9670	protein-coding gene	gene with protein product		179590		LAR		7558042	Standard	NM_130440		Approved		uc001cjr.3	P10586	OTTHUMG00000007501	ENST00000359947.4:c.5368G>C	1.37:g.44086512G>C	ENSP00000353030:p.Gly1790Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DPX6|D3DPX7|Q5T021|Q5T022|Q5W9G2|Q86WS0	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.G1790R	ENST00000359947.4	37	c.5368	CCDS489.2	1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	33|33|33	5.215089|5.215089|5.215089	0.95104|0.95104|0.95104	.|.|.	.|.|.	ENSG00000142949|ENSG00000142949|ENSG00000142949	ENST00000359947;ENST00000438120;ENST00000372414;ENST00000372413;ENST00000422171;ENST00000372407|ENST00000429895|ENST00000412568;ENST00000414879	D;D;D;D;D;D|.|.	0.83335|.|.	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71|.|.	5.13|5.13|5.13	5.13|5.13|5.13	0.70059|0.70059|0.70059	Protein-tyrosine phosphatase, receptor/non-receptor type (3);|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	0.72969|0.72969|0.72969	0.3527|0.3527|0.3527	L|L|L	0.60067|0.60067|0.60067	1.865|1.865|1.865	0.80722|0.80722|0.80722	D|D|D	1|1|1	P;D;D;D;D|.|.	0.89917|.|.	0.768;0.993;0.992;1.0;1.0|.|.	B;P;D;D;D|.|.	0.97110|.|.	0.255;0.903;0.946;1.0;0.998|.|.	T|T|T	0.69793|0.69793|0.69793	-0.5049|-0.5049|-0.5049	9|5|5	0.41790|.|.	T|.|.	0.15|.|.	.|.|.	19.4788|19.4788|19.4788	0.95000|0.95000|0.95000	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	1435;1149;1367;1781;1790|.|.	Q59FI2;F2Z3B8;Q5W9G3;P10586-2;P10586|.|.	.;.;.;.;PTPRF_HUMAN|.|.	R|I|S	1790;1781;1790;1781;1149;862|1435|1173;1214	ENSP00000353030:G1790R;ENSP00000398822:G1781R;ENSP00000361491:G1790R;ENSP00000361490:G1781R;ENSP00000387885:G1149R;ENSP00000361484:G862R|.|.	ENSP00000353030:G1790R|.|.	G|M|W	+|+|+	1|3|2	0|0|0	PTPRF|PTPRF|PTPRF	43859099|43859099|43859099	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.995000|0.995000|0.995000	0.86356|0.86356|0.86356	9.414000|9.414000|9.414000	0.97362|0.97362|0.97362	2.774000|2.774000|2.774000	0.95407|0.95407|0.95407	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GGG|ATG|TGG	PTPRF	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt	ENSG00000142949		0.562	PTPRF-001	KNOWN	basic|CCDS	protein_coding	PTPRF	HGNC	protein_coding	OTTHUMT00000019710.1	72	0.00	0	G			44086512	44086512	+1	no_errors	ENST00000359947	ensembl	human	known	69_37n	missense	50	16.67	10	SNP	1.000	C
RASIP1	54922	genome.wustl.edu	37	19	49230688	49230688	+	Splice_Site	SNP	C	C	T			TCGA-GM-A2DF-01A-11D-A17W-09	TCGA-GM-A2DF-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7456abd5-303e-4e6f-bf4e-47efefc7310f	12ca0b20-2f39-43df-a572-28f4069502de	g.chr19:49230688C>T	ENST00000222145.4	-	6	2038		c.e6-1		RASIP1_ENST00000594232.1_5'Flank	NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1						angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|negative regulation of autophagy (GO:0010507)|regulation of Rho GTPase activity (GO:0032319)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	Golgi apparatus (GO:0005794)				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		TAATCTTTTCCTGTGGAACAG	0.453																																						dbGAP											0													86.0	85.0	85.0					19																	49230688		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			BC028614	CCDS12731.1	19q13.33	2008-02-05				ENSG00000105538			24716	protein-coding gene	gene with protein product		609623				15031288	Standard	NM_017805		Approved	FLJ20401, RAIN	uc002pki.3	Q5U651		ENST00000222145.4:c.1834-1G>A	19.37:g.49230688C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6U676	Splice_Site	SNP	-	e5-1	ENST00000222145.4	37	c.1834-1	CCDS12731.1	19	.	.	.	.	.	.	.	.	.	.	C	23.0	4.367386	0.82463	.	.	ENSG00000105538	ENST00000222145	.	.	.	5.46	5.46	0.80206	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1725	0.86833	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RASIP1	53922500	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.190000	0.72057	2.742000	0.94016	0.591000	0.81541	.	RASIP1	-	-	ENSG00000105538		0.453	RASIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASIP1	HGNC	protein_coding	OTTHUMT00000466185.1	87	0.00	0	C	NM_017805	Intron	49230688	49230688	-1	no_errors	ENST00000222145	ensembl	human	known	69_37n	splice_site	46	24.59	15	SNP	1.000	T
RIOK1	83732	genome.wustl.edu	37	6	7393371	7393371	+	Silent	SNP	C	C	T			TCGA-GM-A2DF-01A-11D-A17W-09	TCGA-GM-A2DF-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7456abd5-303e-4e6f-bf4e-47efefc7310f	12ca0b20-2f39-43df-a572-28f4069502de	g.chr6:7393371C>T	ENST00000379834.2	+	2	618	c.111C>T	c.(109-111)gaC>gaT	p.D37D		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	37							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					AGAAGGATGACATTCTGTTTG	0.368																																						dbGAP											0													136.0	123.0	127.0					6																	7393371		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC006104	CCDS4500.1	6p24.3	2012-12-10	2012-12-10		ENSG00000124784	ENSG00000124784			18656	protein-coding gene	gene with protein product			"""RIO kinase 1 (yeast)"""				Standard	NM_031480		Approved	AD034, FLJ30006, bA288G3.1, RRP10	uc003mxn.3	Q9BRS2	OTTHUMG00000014207	ENST00000379834.2:c.111C>T	6.37:g.7393371C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RB28|Q8NDC8|Q96NV9	Silent	SNP	pfam_RIO-like_kinase,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio1	p.D37	ENST00000379834.2	37	c.111	CCDS4500.1	6																																																																																			RIOK1	-	pirsf_Ser/Thr_kinase_Rio1	ENSG00000124784		0.368	RIOK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIOK1	HGNC	protein_coding	OTTHUMT00000039780.2	103	0.00	0	C	NM_031480		7393371	7393371	+1	no_errors	ENST00000379834	ensembl	human	known	69_37n	silent	128	12.33	18	SNP	0.000	T
RXRG	6258	genome.wustl.edu	37	1	165380213	165380213	+	Silent	SNP	G	G	A			TCGA-GM-A2DF-01A-11D-A17W-09	TCGA-GM-A2DF-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7456abd5-303e-4e6f-bf4e-47efefc7310f	12ca0b20-2f39-43df-a572-28f4069502de	g.chr1:165380213G>A	ENST00000359842.5	-	5	1058	c.756C>T	c.(754-756)tcC>tcT	p.S252S	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	252	Hinge.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	TGTCACCATAGGATTCTGTCT	0.463																																						dbGAP											0													169.0	137.0	148.0					1																	165380213		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.756C>T	1.37:g.165380213G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NIP1|Q6IBU7	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_DUF3345,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF	p.S252	ENST00000359842.5	37	c.756	CCDS1248.1	1																																																																																			RXRG	-	superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000143171		0.463	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RXRG	HGNC	protein_coding	OTTHUMT00000083794.2	112	0.00	0	G	NM_006917		165380213	165380213	-1	no_errors	ENST00000359842	ensembl	human	known	69_37n	silent	116	10.08	13	SNP	0.999	A
SETD2	29072	genome.wustl.edu	37	3	47163294	47163294	+	Silent	SNP	A	A	C			TCGA-GM-A2DF-01A-11D-A17W-09	TCGA-GM-A2DF-10C-01D-A17W-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7456abd5-303e-4e6f-bf4e-47efefc7310f	12ca0b20-2f39-43df-a572-28f4069502de	g.chr3:47163294A>C	ENST00000409792.3	-	3	2874	c.2832T>G	c.(2830-2832)gcT>gcG	p.A944A		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	944					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCTCCCTGGAAGCAAATCCCT	0.408			"""N, F, S, Mis"""		clear cell renal carcinoma																																	dbGAP		Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													115.0	116.0	115.0					3																	47163294		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.2832T>G	3.37:g.47163294A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	pfam_SET_dom,superfamily_Ferritin/RR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom	p.F578V	ENST00000409792.3	37	c.1732	CCDS2749.2	3																																																																																			SETD2	-	NULL	ENSG00000181555		0.408	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	HGNC	protein_coding	OTTHUMT00000257479.2	93	0.00	0	A	NM_014159		47163294	47163294	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000445387	ensembl	human	known	69_37n	missense	52	17.46	11	SNP	0.134	C
SLC24A4	123041	genome.wustl.edu	37	14	92922791	92922791	+	Missense_Mutation	SNP	C	C	T			TCGA-GM-A2DF-01A-11D-A17W-09	TCGA-GM-A2DF-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7456abd5-303e-4e6f-bf4e-47efefc7310f	12ca0b20-2f39-43df-a572-28f4069502de	g.chr14:92922791C>T	ENST00000532405.1	+	12	1320	c.1094C>T	c.(1093-1095)cCg>cTg	p.P365L	SLC24A4_ENST00000393265.2_Missense_Mutation_p.P301L|SLC24A4_ENST00000556739.1_3'UTR|SLC24A4_ENST00000351924.5_Missense_Mutation_p.P329L|SLC24A4_ENST00000531433.1_Missense_Mutation_p.P346L|SLC24A4_ENST00000298877.1_Missense_Mutation_p.P348L			Q8NFF2	NCKX4_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 4	365					amelogenesis (GO:0097186)|cellular calcium ion homeostasis (GO:0006874)|ion transport (GO:0006811)|response to stimulus (GO:0050896)|sensory perception of smell (GO:0007608)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(20)|ovary(2)|skin(1)	36		all_cancers(154;0.0347)|all_epithelial(191;0.163)		Colorectal(1;0.00242)|COAD - Colon adenocarcinoma(157;0.047)|Epithelial(152;0.0781)|READ - Rectum adenocarcinoma(1;0.176)|all cancers(159;0.182)		AGCAGTAAGCCGCTTCAAAAC	0.542											OREG0022876	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									NSCLC(10;315 435 10383 28450 38798)	dbGAP											0													100.0	78.0	86.0					14																	92922791		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF520704	CCDS9903.1, CCDS45155.1, CCDS45156.1, CCDS9903.2, CCDS45155.2	14q32.12	2013-05-22			ENSG00000140090	ENSG00000140090		"""Solute carriers"""	10978	protein-coding gene	gene with protein product		609840					Standard	NM_153646		Approved	NCKX4	uc001yak.3	Q8NFF2	OTTHUMG00000167589	ENST00000532405.1:c.1094C>T	14.37:g.92922791C>T	ENSP00000431840:p.Pro365Leu	Somatic	1293	WXS	Illumina GAIIx	Phase_IV	B4DHE7|B9ZVY2|Q8N8U6|Q8NCX1|Q8NFF0|Q8NFF1	Missense_Mutation	SNP	pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger-like	p.P365L	ENST00000532405.1	37	c.1094	CCDS9903.2	14	.	.	.	.	.	.	.	.	.	.	C	8.536	0.872138	0.17322	.	.	ENSG00000140090	ENST00000393265;ENST00000531433;ENST00000532405;ENST00000298877;ENST00000351924;ENST00000318079	T;T;T;T;T	0.67523	-0.27;0.15;0.15;-0.27;-0.26	4.81	4.81	0.61882	.	1.232450	0.05859	N	0.622657	T	0.63510	0.2517	L	0.45581	1.43	0.50813	D	0.999896	B;B;B	0.16396	0.017;0.017;0.006	B;B;B	0.15052	0.012;0.012;0.003	T	0.40553	-0.9557	10	0.33141	T	0.24	.	12.361	0.55203	0.0:0.9185:0.0:0.0815	.	346;301;365	Q8NFF2-3;Q8NFF2-2;Q8NFF2	.;.;NCKX4_HUMAN	L	301;346;365;348;329;217	ENSP00000376948:P301L;ENSP00000433302:P346L;ENSP00000431840:P365L;ENSP00000298877:P348L;ENSP00000337789:P329L	ENSP00000298877:P348L	P	+	2	0	SLC24A4	91992544	0.989000	0.36119	0.995000	0.50966	0.051000	0.14879	2.755000	0.47540	2.216000	0.71823	0.561000	0.74099	CCG	SLC24A4	-	tigrfam_K-dep_Na/Ca-exchanger-like	ENSG00000140090		0.542	SLC24A4-001	KNOWN	basic|CCDS	protein_coding	SLC24A4	HGNC	protein_coding	OTTHUMT00000395240.1	50	0.00	0	C	NM_153646		92922791	92922791	+1	no_errors	ENST00000532405	ensembl	human	known	69_37n	missense	34	12.82	5	SNP	0.981	T
SNAP25	6616	genome.wustl.edu	37	20	10279990	10279990	+	Missense_Mutation	SNP	G	G	A			TCGA-GM-A2DF-01A-11D-A17W-09	TCGA-GM-A2DF-10C-01D-A17W-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7456abd5-303e-4e6f-bf4e-47efefc7310f	12ca0b20-2f39-43df-a572-28f4069502de	g.chr20:10279990G>A	ENST00000254976.2	+	7	693	c.482G>A	c.(481-483)cGt>cAt	p.R161H	SNAP25_ENST00000304886.2_Missense_Mutation_p.R161H|SNAP25_ENST00000495883.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	161	t-SNARE coiled-coil homology 2. {ECO:0000255|PROSITE-ProRule:PRU00202}.				energy reserve metabolic process (GO:0006112)|glutamate secretion (GO:0014047)|long-term synaptic potentiation (GO:0060291)|neurotransmitter secretion (GO:0007269)|neurotransmitter uptake (GO:0001504)|regulation of establishment of protein localization (GO:0070201)|regulation of insulin secretion (GO:0050796)|regulation of neuron projection development (GO:0010975)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|growth cone (GO:0030426)|membrane (GO:0016020)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|SNARE complex (GO:0031201)|synaptobrevin 2-SNAP-25-syntaxin-1a-complexin I complex (GO:0070032)|trans-Golgi network (GO:0005802)	calcium-dependent protein binding (GO:0048306)			endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	GGGAACCTCCGTCACATGGCC	0.502																																						dbGAP											0													126.0	117.0	120.0					20																	10279990		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS13109.1, CCDS13110.1	20p12-p11.2	2008-08-01	2002-08-29		ENSG00000132639	ENSG00000132639			11132	protein-coding gene	gene with protein product	"""resistance to inhibitors of cholinesterase 4 homolog"""	600322	"""synaptosomal-associated protein, 25kD"""	SNAP		8661740, 10692432	Standard	NM_003081		Approved	SNAP-25, RIC-4, RIC4, SEC9, bA416N4.2, dJ1068F16.2	uc002wnr.2	P60880	OTTHUMG00000031863	ENST00000254976.2:c.482G>A	20.37:g.10279990G>A	ENSP00000254976:p.Arg161His	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RAU4|D3DW16|D3DW17|P13795|P36974|P70557|P70558|Q53EM2|Q5U0B5|Q8IXK3|Q96FM2|Q9BR45	Missense_Mutation	SNP	pfam_T_SNARE_dom,pfam_SNAP-25,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.R161H	ENST00000254976.2	37	c.482	CCDS13110.1	20	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274911	0.80580	.	.	ENSG00000132639	ENST00000254976;ENST00000304886	.	.	.	6.17	6.17	0.99709	Target SNARE coiled-coil domain (3);	0.000000	0.85682	D	0.000000	T	0.75882	0.3910	L	0.52266	1.64	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.69307	0.943;0.963	T	0.71414	-0.4600	9	0.41790	T	0.15	-7.2293	20.8794	0.99867	0.0:0.0:1.0:0.0	.	161;161	P60880-2;P60880	.;SNP25_HUMAN	H	161	.	ENSP00000254976:R161H	R	+	2	0	SNAP25	10227990	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CGT	SNAP25	-	pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom	ENSG00000132639		0.502	SNAP25-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SNAP25	HGNC	protein_coding	OTTHUMT00000077976.3	57	0.00	0	G	NM_130811		10279990	10279990	+1	no_errors	ENST00000254976	ensembl	human	known	69_37n	missense	36	14.29	6	SNP	1.000	A
SPINK5	11005	genome.wustl.edu	37	5	147477448	147477448	+	Missense_Mutation	SNP	C	C	G			TCGA-GM-A2DF-01A-11D-A17W-09	TCGA-GM-A2DF-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7456abd5-303e-4e6f-bf4e-47efefc7310f	12ca0b20-2f39-43df-a572-28f4069502de	g.chr5:147477448C>G	ENST00000256084.7	+	11	943	c.901C>G	c.(901-903)Caa>Gaa	p.Q301E	SPINK5_ENST00000476608.1_3'UTR|SPINK5_ENST00000359874.3_Missense_Mutation_p.Q301E|SPINK5_ENST00000398454.1_Missense_Mutation_p.Q301E	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	301	Kazal-like 5. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTCAATATCAAAATCAGGC	0.328																																						dbGAP											0													91.0	82.0	85.0					5																	147477448		1819	4081	5900	-	-	-	SO:0001583	missense	0			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.901C>G	5.37:g.147477448C>G	ENSP00000256084:p.Gln301Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Missense_Mutation	SNP	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal	p.Q301E	ENST00000256084.7	37	c.901	CCDS43382.1	5	.	.	.	.	.	.	.	.	.	.	C	11.30	1.598225	0.28445	.	.	ENSG00000133710	ENST00000398454;ENST00000359874;ENST00000508733;ENST00000256084	T;T;T;T	0.06449	3.3;3.3;3.3;3.3	5.58	0.041	0.14211	Proteinase inhibitor I1, Kazal (1);	0.921446	0.09051	N	0.855805	T	0.08133	0.0203	M	0.66939	2.045	0.09310	N	1	B;B;B;B	0.31383	0.129;0.321;0.129;0.185	B;B;B;B	0.35727	0.103;0.205;0.071;0.209	T	0.42882	-0.9425	10	0.02654	T	1	-0.1166	9.6192	0.39710	0.538:0.3423:0.1197:0.0	.	282;301;301;301	B4DWS3;Q9NQ38-3;Q9NQ38;Q9NQ38-2	.;.;ISK5_HUMAN;.	E	301;301;282;301	ENSP00000381472:Q301E;ENSP00000352936:Q301E;ENSP00000421519:Q282E;ENSP00000256084:Q301E	ENSP00000256084:Q301E	Q	+	1	0	SPINK5	147457641	0.001000	0.12720	0.136000	0.22124	0.332000	0.28634	0.065000	0.14466	0.051000	0.15978	0.655000	0.94253	CAA	SPINK5	-	smart_Prot_inh_Kazal	ENSG00000133710		0.328	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPINK5	HGNC	protein_coding	OTTHUMT00000259215.2	108	0.00	0	C	NM_001127698		147477448	147477448	+1	no_errors	ENST00000359874	ensembl	human	known	69_37n	missense	73	22.34	21	SNP	0.026	G
THSD7B	80731	genome.wustl.edu	37	2	138000041	138000041	+	Missense_Mutation	SNP	C	C	G			TCGA-GM-A2DF-01A-11D-A17W-09	TCGA-GM-A2DF-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7456abd5-303e-4e6f-bf4e-47efefc7310f	12ca0b20-2f39-43df-a572-28f4069502de	g.chr2:138000041C>G	ENST00000409968.1	+	10	2343	c.2165C>G	c.(2164-2166)aCt>aGt	p.T722S	THSD7B_ENST00000413152.2_Missense_Mutation_p.T691S|THSD7B_ENST00000272643.3_Missense_Mutation_p.T722S|THSD7B_ENST00000543459.1_Intron			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	722	TSP type-1 8. {ECO:0000255|PROSITE- ProRule:PRU00210}.					integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCAGATTCTACTCGACCTGAA	0.448																																						dbGAP											0													133.0	126.0	128.0					2																	138000041		1948	4137	6085	-	-	-	SO:0001583	missense	0					2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.2165C>G	2.37:g.138000041C>G	ENSP00000387145:p.Thr722Ser	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.T722S	ENST00000409968.1	37	c.2165		2	.	.	.	.	.	.	.	.	.	.	C	5.274	0.235972	0.10023	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152	T;T;T	0.21932	2.53;2.37;1.98	5.78	3.96	0.45880	.	0.252758	0.46758	N	0.000276	T	0.12347	0.0300	L	0.35793	1.09	0.19300	N	0.99998	B;B	0.06786	0.001;0.0	B;B	0.10450	0.005;0.005	T	0.34229	-0.9837	10	0.07030	T	0.85	.	5.596	0.17327	0.0:0.6157:0.1631:0.2211	.	722;691	Q9C0I4;C9JKN6	THS7B_HUMAN;.	S	722;722;691	ENSP00000387145:T722S;ENSP00000272643:T722S;ENSP00000413841:T691S	ENSP00000272643:T722S	T	+	2	0	THSD7B	137716511	0.031000	0.19500	0.997000	0.53966	0.237000	0.25408	1.054000	0.30455	1.441000	0.47550	0.655000	0.94253	ACT	THSD7B	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	ENSG00000144229		0.448	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	THSD7B	HGNC	protein_coding	OTTHUMT00000331769.2	172	0.00	0	C	XM_046570.9		138000041	138000041	+1	no_errors	ENST00000272643	ensembl	human	known	69_37n	missense	86	18.87	20	SNP	0.217	G
TP53	7157	genome.wustl.edu	37	17	7577610	7577610	+	Splice_Site	SNP	T	T	C			TCGA-GM-A2DF-01A-11D-A17W-09	TCGA-GM-A2DF-10C-01D-A17W-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7456abd5-303e-4e6f-bf4e-47efefc7310f	12ca0b20-2f39-43df-a572-28f4069502de	g.chr17:7577610T>C	ENST00000269305.4	-	7	862		c.e7-2		TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(43)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	AGAGCCAACCTAGGAGATAAC	0.522		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	53	Unknown(43)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(1)	lung(16)|liver(7)|upper_aerodigestive_tract(5)|biliary_tract(5)|ovary(5)|breast(4)|bone(4)|central_nervous_system(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|urinary_tract(1)|oesophagus(1)											88.0	74.0	79.0					17																	7577610		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.673-2A>G	17.37:g.7577610T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	-	e6-2	ENST00000269305.4	37	c.673-2	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	T	17.76	3.468043	0.63625	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	3.35	3.35	0.38373	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.3302	0.43818	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518335	1.000000	0.71417	0.324000	0.25361	0.557000	0.35523	7.634000	0.83273	1.750000	0.51863	0.379000	0.24179	.	TP53	-	-	ENSG00000141510		0.522	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	58	0.00	0	T	NM_000546	Intron	7577610	7577610	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	splice_site	33	25.00	11	SNP	0.999	C
ZNF496	84838	genome.wustl.edu	37	1	247464502	247464502	+	Silent	SNP	C	C	A			TCGA-GM-A2DF-01A-11D-A17W-09	TCGA-GM-A2DF-10C-01D-A17W-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	7456abd5-303e-4e6f-bf4e-47efefc7310f	12ca0b20-2f39-43df-a572-28f4069502de	g.chr1:247464502C>A	ENST00000294753.4	-	9	1547	c.1083G>T	c.(1081-1083)ggG>ggT	p.G361G	ZNF496_ENST00000462139.1_5'UTR|ZNF496_ENST00000366498.2_Silent_p.G397G	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	361					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear body (GO:0016604)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			AGTCCTCGTCCCCAGAGCTGG	0.627																																						dbGAP											0													58.0	66.0	63.0					1																	247464502		2195	4282	6477	-	-	-	SO:0001819	synonymous_variant	0			BC007263	CCDS1631.1	1q44	2013-01-09			ENSG00000162714	ENSG00000162714		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	23713	protein-coding gene	gene with protein product		613911				12477932	Standard	NM_032752		Approved	ZKSCAN17, MGC15548, ZSCAN49	uc001ico.3	Q96IT1	OTTHUMG00000041164	ENST00000294753.4:c.1083G>T	1.37:g.247464502C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TBS2	Silent	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.G397	ENST00000294753.4	37	c.1191	CCDS1631.1	1																																																																																			ZNF496	-	NULL	ENSG00000162714		0.627	ZNF496-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF496	HGNC	protein_coding	OTTHUMT00000098655.2	49	0.00	0	C	NM_032752		247464502	247464502	-1	no_errors	ENST00000366498	ensembl	human	known	69_37n	silent	31	16.22	6	SNP	0.709	A
