#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
ADCY5	111	genome.wustl.edu	37	3	123033083	123033083	+	Splice_Site	SNP	T	T	G			TCGA-AC-A2BM-01A-11D-A21Q-09	TCGA-AC-A2BM-11A-13D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ac1b3eef-a009-421f-971e-e7d88064e62b	ee2a49ba-7a24-4021-bbd5-b6b314828893	g.chr3:123033083T>G	ENST00000462833.1	-	12	3653	c.2441A>C	c.(2440-2442)aAg>aCg	p.K814T	ADCY5_ENST00000309879.5_Splice_Site_p.K464T|ADCY5_ENST00000491190.1_Splice_Site_p.K447T	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	814					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenosine receptor signaling pathway (GO:0001973)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TACACTCACCTTTACGCAGGA	0.562																																						dbGAP											0													106.0	81.0	89.0					3																	123033083		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			U65473	CCDS3022.1, CCDS56274.1	3q21.1	2013-02-04			ENSG00000173175	ENSG00000173175	4.6.1.1	"""Adenylate cyclases"""	236	protein-coding gene	gene with protein product		600293				10481931	Standard	NM_183357		Approved	AC5	uc003egh.2	O95622	OTTHUMG00000159517	ENST00000462833.1:c.2442+1A>C	3.37:g.123033083T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z8A6|Q7RTV7|Q8NFM3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.K814T	ENST00000462833.1	37	c.2441	CCDS3022.1	3	.	.	.	.	.	.	.	.	.	.	T	14.25	2.480697	0.44044	.	.	ENSG00000173175	ENST00000462833;ENST00000491190;ENST00000309879;ENST00000466617	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.64	4.42	0.53409	.	0.136393	0.50627	D	0.000105	T	0.43411	0.1246	L	0.61218	1.895	0.31661	N	0.64552	B;B	0.14012	0.005;0.009	B;B	0.14023	0.01;0.004	T	0.46830	-0.9163	10	0.21540	T	0.41	.	12.4136	0.55481	0.0:0.0:0.1402:0.8598	.	814;447	O95622;B3KWA8	ADCY5_HUMAN;.	T	814;447;464;373	ENSP00000419361:K814T;ENSP00000418537:K447T;ENSP00000308685:K464T;ENSP00000420082:K373T	ENSP00000308685:K464T	K	-	2	0	ADCY5	124515773	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	1.764000	0.38471	2.151000	0.67156	0.379000	0.24179	AAG	ADCY5	-	NULL	ENSG00000173175		0.562	ADCY5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY5	HGNC	protein_coding	OTTHUMT00000355889.4	42	0.00	0	T	XM_171048	Missense_Mutation	123033083	123033083	-1	no_errors	ENST00000462833	ensembl	human	known	69_37n	missense	29	34.09	15	SNP	1.000	G
AGL	178	genome.wustl.edu	37	1	100381025	100381025	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A2BM-01A-11D-A21Q-09	TCGA-AC-A2BM-11A-13D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ac1b3eef-a009-421f-971e-e7d88064e62b	ee2a49ba-7a24-4021-bbd5-b6b314828893	g.chr1:100381025G>T	ENST00000294724.4	+	31	4720	c.4242G>T	c.(4240-4242)atG>atT	p.M1414I	AGL_ENST00000361302.3_Missense_Mutation_p.M1398I|AGL_ENST00000361522.4_Missense_Mutation_p.M1397I|AGL_ENST00000370165.3_Missense_Mutation_p.M1414I|AGL_ENST00000370163.3_Missense_Mutation_p.M1414I|AGL_ENST00000370161.2_Missense_Mutation_p.M1398I|AGL_ENST00000361915.3_Missense_Mutation_p.M1414I	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1414					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CCCTTGGCATGAAAACTTTAG	0.333																																						dbGAP											0													75.0	82.0	79.0					1																	100381025		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.4242G>T	1.37:g.100381025G>T	ENSP00000294724:p.Met1414Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Missense_Mutation	SNP	pfam_GDE_C,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met	p.M1414I	ENST00000294724.4	37	c.4242	CCDS759.1	1	.	.	.	.	.	.	.	.	.	.	G	18.13	3.554478	0.65425	.	.	ENSG00000162688	ENST00000361915;ENST00000370165;ENST00000370163;ENST00000294724;ENST00000361302;ENST00000370161;ENST00000361522	T;T;T;T;T;T;T	0.69685	-0.42;-0.42;-0.42;-0.42;-0.42;-0.42;-0.42	5.91	5.91	0.95273	Six-hairpin glycosidase-like (1);	0.000000	0.85682	D	0.000000	T	0.67832	0.2935	M	0.73217	2.22	0.80722	D	1	P;P;P	0.38223	0.569;0.569;0.623	B;B;P	0.44647	0.327;0.327;0.456	T	0.67098	-0.5756	10	0.41790	T	0.15	.	20.2885	0.98538	0.0:0.0:1.0:0.0	.	1397;1398;1414	P35573-2;P35573-3;P35573	.;.;GDE_HUMAN	I	1414;1414;1414;1414;1398;1398;1397	ENSP00000355106:M1414I;ENSP00000359184:M1414I;ENSP00000359182:M1414I;ENSP00000294724:M1414I;ENSP00000354971:M1398I;ENSP00000359180:M1398I;ENSP00000354635:M1397I	ENSP00000294724:M1414I	M	+	3	0	AGL	100153613	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	9.334000	0.96470	2.791000	0.96007	0.650000	0.86243	ATG	AGL	-	pfam_GDE_C,superfamily_6-hairpin_glycosidase-like,tigrfam_Glycogen_debranch_met	ENSG00000162688		0.333	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AGL	HGNC	protein_coding	OTTHUMT00000029778.1	33	0.00	0	G	NM_000028		100381025	100381025	+1	no_errors	ENST00000294724	ensembl	human	known	69_37n	missense	26	13.33	4	SNP	1.000	T
APOBR	55911	genome.wustl.edu	37	16	28507458	28507458	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A2BM-01A-11D-A21Q-09	TCGA-AC-A2BM-11A-13D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ac1b3eef-a009-421f-971e-e7d88064e62b	ee2a49ba-7a24-4021-bbd5-b6b314828893	g.chr16:28507458G>A	ENST00000431282.1	+	3	1079	c.1069G>A	c.(1069-1071)Gcc>Acc	p.A357T	CLN3_ENST00000569430.1_5'Flank|CLN3_ENST00000567160.1_5'Flank|APOBR_ENST00000564831.1_Missense_Mutation_p.A366T|APOBR_ENST00000328423.5_Missense_Mutation_p.A357T			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	357	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GGCCGGGACAGCCTCAGGAGG	0.667																																						dbGAP											0													16.0	19.0	18.0					16																	28507458		1959	4109	6068	-	-	-	SO:0001583	missense	0			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.1069G>A	16.37:g.28507458G>A	ENSP00000416094:p.Ala357Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	NULL	p.A366T	ENST00000431282.1	37	c.1096		16	.	.	.	.	.	.	.	.	.	.	G	13.61	2.288719	0.40494	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.60299	0.2;0.2	3.92	-4.9	0.03094	.	.	.	.	.	T	0.34395	0.0896	N	0.19112	0.55	0.09310	N	1	B	0.30146	0.27	B	0.29524	0.103	T	0.20371	-1.0277	9	0.34782	T	0.22	6.3641	6.5262	0.22303	0.3857:0.1261:0.4882:0.0	.	357	Q9NS13	.	T	357	ENSP00000327669:A357T;ENSP00000416094:A357T	ENSP00000327669:A357T	A	+	1	0	APOBR	28414959	0.000000	0.05858	0.000000	0.03702	0.068000	0.16541	-2.026000	0.01434	-0.919000	0.03803	-0.382000	0.06688	GCC	APOBR	-	NULL	ENSG00000184730		0.667	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	APOBR	HGNC	protein_coding		16	0.00	0	G	NM_182804		28507458	28507458	+1	no_errors	ENST00000564831	ensembl	human	known	69_37n	missense	21	25.00	7	SNP	0.002	A
ASTN1	460	genome.wustl.edu	37	1	176863705	176863705	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A2BM-01A-11D-A21Q-09	TCGA-AC-A2BM-11A-13D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ac1b3eef-a009-421f-971e-e7d88064e62b	ee2a49ba-7a24-4021-bbd5-b6b314828893	g.chr1:176863705G>T	ENST00000367654.3	-	17	3168	c.2957C>A	c.(2956-2958)aCc>aAc	p.T986N	ASTN1_ENST00000367657.3_Missense_Mutation_p.T978N|ASTN1_ENST00000361833.2_Missense_Mutation_p.T978N|ASTN1_ENST00000424564.2_Missense_Mutation_p.T978N	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	986					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TACCCTCTGGGTCTGGTTGTT	0.567																																						dbGAP											0													60.0	65.0	64.0					1																	176863705		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2957C>A	1.37:g.176863705G>T	ENSP00000356626:p.Thr986Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EGF-like,smart_MACPF,pfscan_Fibronectin_type3	p.T986N	ENST00000367654.3	37	c.2957		1	.	.	.	.	.	.	.	.	.	.	G	25.4	4.638467	0.87760	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.36699	1.24;1.24;1.24;1.24	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.57213	0.2038	L	0.55990	1.75	0.80722	D	1	D;D	0.61080	0.989;0.989	D;D	0.75020	0.985;0.985	T	0.59418	-0.7458	10	0.87932	D	0	-31.5198	18.5488	0.91056	0.0:0.0:1.0:0.0	.	978;978	O14525-2;B1AJS1	.;.	N	978;978;986;978;978	ENSP00000356629:T978N;ENSP00000354536:T978N;ENSP00000356626:T986N;ENSP00000395041:T978N	ENSP00000354536:T978N	T	-	2	0	ASTN1	175130328	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.924000	0.92827	2.571000	0.86741	0.563000	0.77884	ACC	ASTN1	-	smart_MACPF	ENSG00000152092		0.567	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		24	0.00	0	G	NM_004319		176863705	176863705	-1	no_errors	ENST00000367654	ensembl	human	known	69_37n	missense	30	23.08	9	SNP	1.000	T
ASXL3	80816	genome.wustl.edu	37	18	31320369	31320369	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AC-A2BM-01A-11D-A21Q-09	TCGA-AC-A2BM-11A-13D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ac1b3eef-a009-421f-971e-e7d88064e62b	ee2a49ba-7a24-4021-bbd5-b6b314828893	g.chr18:31320369C>T	ENST00000269197.5	+	11	3001	c.3001C>T	c.(3001-3003)Cag>Tag	p.Q1001*		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1001					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGAGAAAGAACAGCCTCCCAG	0.438																																						dbGAP											0													31.0	31.0	31.0					18																	31320369		1848	4087	5935	-	-	-	SO:0001587	stop_gained	0			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.3001C>T	18.37:g.31320369C>T	ENSP00000269197:p.Gln1001*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZMX6|Q96MU3|Q9UFC5	Nonsense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.Q1001*	ENST00000269197.5	37	c.3001	CCDS45847.1	18	.	.	.	.	.	.	.	.	.	.	C	39	7.723467	0.98453	.	.	ENSG00000141431	ENST00000269197	.	.	.	5.93	5.93	0.95920	.	1.446310	0.04134	N	0.318422	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	20.3368	0.98748	0.0:1.0:0.0:0.0	.	.	.	.	X	1001	.	ENSP00000269197:Q1001X	Q	+	1	0	ASXL3	29574367	0.991000	0.36638	0.950000	0.38849	0.870000	0.49936	4.028000	0.57246	2.805000	0.96524	0.655000	0.94253	CAG	ASXL3	-	NULL	ENSG00000141431		0.438	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ASXL3	HGNC	protein_coding	OTTHUMT00000441865.2	49	0.00	0	C			31320369	31320369	+1	no_errors	ENST00000269197	ensembl	human	known	69_37n	nonsense	28	12.50	4	SNP	1.000	T
ATXN7L2	127002	genome.wustl.edu	37	1	110032625	110032625	+	Missense_Mutation	SNP	C	C	A			TCGA-AC-A2BM-01A-11D-A21Q-09	TCGA-AC-A2BM-11A-13D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ac1b3eef-a009-421f-971e-e7d88064e62b	ee2a49ba-7a24-4021-bbd5-b6b314828893	g.chr1:110032625C>A	ENST00000369870.3	+	8	1126	c.1111C>A	c.(1111-1113)Ccc>Acc	p.P371T		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	371										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		AGGCCTGTTCCCCTTCCCCAT	0.647																																						dbGAP											0													73.0	81.0	78.0					1																	110032625		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.1111C>A	1.37:g.110032625C>A	ENSP00000358886:p.Pro371Thr	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_SCA7_dom	p.P371T	ENST00000369870.3	37	c.1111	CCDS30794.1	1	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771592	0.69992	.	.	ENSG00000162650	ENST00000369870;ENST00000541125	T	0.36878	1.23	5.68	5.68	0.88126	.	0.000000	0.64402	D	0.000005	T	0.49966	0.1588	M	0.62723	1.935	0.80722	D	1	D	0.89917	1.0	D	0.69307	0.963	T	0.49082	-0.8976	10	0.62326	D	0.03	-15.7035	16.7059	0.85372	0.0:1.0:0.0:0.0	.	371	Q5T6C5	AT7L2_HUMAN	T	371	ENSP00000358886:P371T	ENSP00000358886:P371T	P	+	1	0	ATXN7L2	109834148	0.995000	0.38212	1.000000	0.80357	0.987000	0.75469	3.334000	0.52097	2.692000	0.91855	0.561000	0.74099	CCC	ATXN7L2	-	NULL	ENSG00000162650		0.647	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN7L2	HGNC	protein_coding	OTTHUMT00000030331.1	35	0.00	0	C	NM_153340		110032625	110032625	+1	no_errors	ENST00000369870	ensembl	human	known	69_37n	missense	38	13.64	6	SNP	1.000	A
CAPN2	824	genome.wustl.edu	37	1	223936765	223936765	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A2BM-01A-11D-A21Q-09	TCGA-AC-A2BM-11A-13D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ac1b3eef-a009-421f-971e-e7d88064e62b	ee2a49ba-7a24-4021-bbd5-b6b314828893	g.chr1:223936765G>A	ENST00000295006.5	+	6	1063	c.754G>A	c.(754-756)Gcc>Acc	p.A252T	CAPN2_ENST00000433674.2_Missense_Mutation_p.A174T	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	252	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		GGACTCGGAGGCCATCACGTT	0.657											OREG0014276	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													64.0	56.0	59.0					1																	223936765		2203	4300	6503	-	-	-	SO:0001583	missense	0			J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.754G>A	1.37:g.223936765G>A	ENSP00000295006:p.Ala252Thr	Somatic	2293	WXS	Illumina GAIIx	Phase_IV	A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,prints_Calpain_cysteine_protease,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat	p.A252T	ENST00000295006.5	37	c.754	CCDS31035.1	1	.	.	.	.	.	.	.	.	.	.	G	24.3	4.516289	0.85495	.	.	ENSG00000162909	ENST00000433674;ENST00000295006;ENST00000366869	D;D	0.87809	-2.3;-2.3	4.94	4.94	0.65067	Peptidase C2, calpain, catalytic domain (3);	0.000000	0.85682	D	0.000000	D	0.84279	0.5437	L	0.45422	1.42	0.80722	D	1	B;B	0.26902	0.163;0.053	B;B	0.31614	0.036;0.133	T	0.80808	-0.1217	10	0.28530	T	0.3	.	17.741	0.88407	0.0:0.0:1.0:0.0	.	174;252	B7ZA96;P17655	.;CAN2_HUMAN	T	174;252;281	ENSP00000413158:A174T;ENSP00000295006:A252T	ENSP00000295006:A252T	A	+	1	0	CAPN2	222003388	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	9.837000	0.99465	2.274000	0.75844	0.536000	0.68110	GCC	CAPN2	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat	ENSG00000162909		0.657	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN2	HGNC	protein_coding	OTTHUMT00000090973.1	46	0.00	0	G	NM_001748		223936765	223936765	+1	no_errors	ENST00000295006	ensembl	human	known	69_37n	missense	55	33.73	28	SNP	1.000	A
CCDC159	126075	genome.wustl.edu	37	19	11465396	11465396	+	Intron	SNP	C	C	A	rs368424619		TCGA-AC-A2BM-01A-11D-A21Q-09	TCGA-AC-A2BM-11A-13D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ac1b3eef-a009-421f-971e-e7d88064e62b	ee2a49ba-7a24-4021-bbd5-b6b314828893	g.chr19:11465396C>A	ENST00000588790.1	+	12	1336				DKFZP761J1410_ENST00000251473.5_5'Flank|DKFZP761J1410_ENST00000591608.1_5'Flank|CCDC159_ENST00000458408.1_Intron			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159											endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						CCAGTCCCCCCCTCCACCCAT	0.637																																						dbGAP											0													29.0	34.0	32.0					19																	11465396		2100	4223	6323	-	-	-	SO:0001627	intron_variant	0			BC038439	CCDS45976.1	19p13.2	2010-02-17			ENSG00000183401	ENSG00000183401			26996	protein-coding gene	gene with protein product							Standard	NM_001080503		Approved		uc010xlt.2	P0C7I6		ENST00000588790.1:c.889+24C>A	19.37:g.11465396C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DEG3|B4DWR8|B4E133|B7ZAM4	Silent	SNP	NULL	p.P145	ENST00000588790.1	37	c.435	CCDS45976.1	19																																																																																			CCDC159	-	NULL	ENSG00000183401		0.637	CCDC159-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC159	HGNC	protein_coding	OTTHUMT00000458761.1	39	0.00	0	C	NM_001080503		11465396	11465396	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000591691	ensembl	human	putative	69_37n	silent	17	26.09	6	SNP	0.000	A
CD247	919	genome.wustl.edu	37	1	167404418	167404418	+	Intron	DEL	T	T	-			TCGA-AC-A2BM-01A-11D-A21Q-09	TCGA-AC-A2BM-11A-13D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ac1b3eef-a009-421f-971e-e7d88064e62b	ee2a49ba-7a24-4021-bbd5-b6b314828893	g.chr1:167404418delT	ENST00000362089.5	-	5	409				CD247_ENST00000483825.1_5'UTR|CD247_ENST00000392122.3_Intron			P20963	CD3Z_HUMAN	CD247 molecule						Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)		Muromonab(DB00075)	cctccagcccttcctccggag	0.701																																					Ovarian(192;1815 2869 36877 43334)	dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC025703	CCDS1260.1, CCDS1261.1	1q24.2	2014-09-17	2006-03-28	2006-03-09	ENSG00000198821	ENSG00000198821		"""CD molecules"""	1677	protein-coding gene	gene with protein product		186780	"""CD3z antigen, zeta polypeptide (TiT3 complex)"", ""CD247 antigen"""	CD3Z		2974162	Standard	NM_198053		Approved	CD3H, CD3Q	uc001gei.4	P20963	OTTHUMG00000034593	ENST00000362089.5:c.336+217A>-	1.37:g.167404418delT		Somatic		WXS	Illumina GAIIx	Phase_IV	B1AK49|Q5VX13|Q8TAX4	RNA	DEL	-	NULL	ENST00000362089.5	37	NULL	CCDS1261.1	1																																																																																			CD247	-	-	ENSG00000198821		0.701	CD247-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD247	HGNC	protein_coding	OTTHUMT00000083707.1	8	0.00	0	T	NM_198053		167404418	167404418	-1	no_errors	ENST00000483825	ensembl	human	known	69_37n	rna	23	27.27	9	DEL	0.029	-
CES5A	221223	genome.wustl.edu	37	16	55886867	55886867	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A2BM-01A-11D-A21Q-09	TCGA-AC-A2BM-11A-13D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ac1b3eef-a009-421f-971e-e7d88064e62b	ee2a49ba-7a24-4021-bbd5-b6b314828893	g.chr16:55886867C>T	ENST00000290567.9	-	10	1320	c.1199G>A	c.(1198-1200)cGa>cAa	p.R400Q	CES5A_ENST00000518005.1_Missense_Mutation_p.R294Q|CES5A_ENST00000319165.9_Missense_Mutation_p.R400Q|CES5A_ENST00000520435.1_Missense_Mutation_p.R370Q|CES5A_ENST00000541580.1_5'UTR|CES5A_ENST00000521992.1_Missense_Mutation_p.R429Q	NM_001143685.1	NP_001137157.1	Q6NT32	EST5A_HUMAN	carboxylesterase 5A	400						extracellular region (GO:0005576)	carboxylic ester hydrolase activity (GO:0052689)			breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AAGACTGTCTCGGATTTCAGT	0.483																																						dbGAP											0													132.0	118.0	123.0					16																	55886867		2198	4300	6498	-	-	-	SO:0001583	missense	0			AK090997	CCDS10755.1, CCDS45490.1, CCDS54012.1	16q13	2010-10-12	2010-10-12	2010-10-12	ENSG00000159398	ENSG00000159398	3.1.1.1	"""Carboxylesterases"""	26459	protein-coding gene	gene with protein product			"""carboxylesterase 7"""	CES7		20931200	Standard	NM_145024		Approved	FLJ31547, CES4C1, CES5, CAUXIN	uc021tir.1	Q6NT32	OTTHUMG00000133236	ENST00000290567.9:c.1199G>A	16.37:g.55886867C>T	ENSP00000290567:p.Arg400Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z252|B7ZLB6|Q8NBC8|Q96DN9	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.R429Q	ENST00000290567.9	37	c.1286	CCDS45490.1	16	.	.	.	.	.	.	.	.	.	.	C	15.86	2.957150	0.53293	.	.	ENSG00000159398	ENST00000521992;ENST00000319165;ENST00000518005;ENST00000290567;ENST00000520435;ENST00000541580	T;T;T;T;T	0.08458	3.09;3.09;3.09;3.09;3.09	5.41	1.28	0.21552	Carboxylesterase, type B (1);	0.488213	0.15465	N	0.260933	T	0.17534	0.0421	L	0.56280	1.765	0.09310	N	1	D;D	0.76494	0.999;0.975	D;P	0.65233	0.933;0.555	T	0.07177	-1.0786	10	0.33940	T	0.23	.	8.5852	0.33653	0.0:0.6757:0.0:0.3243	.	400;400	Q6NT32;Q6NT32-2	EST5A_HUMAN;.	Q	429;400;294;400;370;180	ENSP00000428864:R429Q;ENSP00000324271:R400Q;ENSP00000428571:R294Q;ENSP00000290567:R400Q;ENSP00000428887:R370Q	ENSP00000290567:R400Q	R	-	2	0	CES5A	54444368	0.985000	0.35326	0.235000	0.24058	0.362000	0.29581	2.053000	0.41326	0.669000	0.31146	0.449000	0.29647	CGA	CES5A	-	pfam_CarbesteraseB	ENSG00000159398		0.483	CES5A-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CES5A	HGNC	protein_coding	OTTHUMT00000256975.3	102	0.00	0	C	NM_145024		55886867	55886867	-1	no_errors	ENST00000521992	ensembl	human	known	69_37n	missense	29	29.27	12	SNP	0.001	T
EHMT2	10919	genome.wustl.edu	37	6	31860684	31860684	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A2BM-01A-11D-A21Q-09	TCGA-AC-A2BM-11A-13D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ac1b3eef-a009-421f-971e-e7d88064e62b	ee2a49ba-7a24-4021-bbd5-b6b314828893	g.chr6:31860684G>T	ENST00000375537.4	-	5	592	c.586C>A	c.(586-588)Ccg>Acg	p.P196T	EHMT2_ENST00000375530.4_Missense_Mutation_p.P196T|EHMT2_ENST00000395728.3_Missense_Mutation_p.P253T|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Missense_Mutation_p.P253T	NM_006709.3	NP_006700.3	Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	196					DNA methylation (GO:0006306)|DNA methylation on cytosine within a CG sequence (GO:0010424)|fertilization (GO:0009566)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|organ growth (GO:0035265)|peptidyl-lysine dimethylation (GO:0018027)|regulation of DNA replication (GO:0006275)|spermatid development (GO:0007286)|synaptonemal complex assembly (GO:0007130)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TCAGGGACCGGGGGCTGTGGG	0.622																																						dbGAP											0													23.0	26.0	25.0					6																	31860684		1509	2708	4217	-	-	-	SO:0001583	missense	0			AF134726	CCDS4725.1, CCDS4726.1, CCDS75425.1	6p21.3	2013-01-10	2004-03-22	2005-06-09	ENSG00000204371	ENSG00000204371	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	14129	protein-coding gene	gene with protein product		604599	"""chromosome 6 open reading frame 30"", ""HLA-B associated transcript 8"""	C6orf30, BAT8		8457211, 11316813	Standard	XM_005274833		Approved	G9A, Em:AF134726.3, NG36/G9a, KMT1C	uc003nxz.1	Q96KQ7	OTTHUMG00000031180	ENST00000375537.4:c.586C>A	6.37:g.31860684G>T	ENSP00000364687:p.Pro196Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B0UZY2|Q14349|Q5JP83|Q5JQ92|Q5JQA1|Q5JQG3|Q6PK06|Q96MH5|Q96QD0|Q9UQL8|Q9Y331	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.P253T	ENST00000375537.4	37	c.757	CCDS4725.1	6	.	.	.	.	.	.	.	.	.	.	G	12.65	2.002899	0.35320	.	.	ENSG00000204371	ENST00000395728;ENST00000375528;ENST00000375530;ENST00000375537;ENST00000442298	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	4.94	4.94	0.65067	.	0.000000	0.47455	D	0.000225	T	0.21103	0.0508	N	0.08118	0	0.47308	D	0.999381	D;D;D	0.76494	0.998;0.999;0.998	D;D;D	0.78314	0.987;0.991;0.981	T	0.09530	-1.0670	10	0.14656	T	0.56	.	15.5524	0.76164	0.0:0.0:1.0:0.0	.	253;196;196	A2ABF8;Q96KQ7-2;Q96KQ7	.;.;EHMT2_HUMAN	T	253;253;196;196;10	ENSP00000379078:P253T;ENSP00000364678:P253T;ENSP00000364680:P196T;ENSP00000364687:P196T	ENSP00000364678:P253T	P	-	1	0	EHMT2	31968663	1.000000	0.71417	0.998000	0.56505	0.259000	0.26198	4.702000	0.61817	2.727000	0.93392	0.655000	0.94253	CCG	EHMT2	-	NULL	ENSG00000204371		0.622	EHMT2-001	KNOWN	basic|CCDS	protein_coding	EHMT2	HGNC	protein_coding	OTTHUMT00000076355.5	26	0.00	0	G	NM_006709		31860684	31860684	-1	no_errors	ENST00000395728	ensembl	human	known	69_37n	missense	19	17.39	4	SNP	1.000	T
FAM182B	728882	genome.wustl.edu	37	20	25848606	25848606	+	5'UTR	SNP	G	G	A	rs372155704		TCGA-AC-A2BM-01A-11D-A21Q-09	TCGA-AC-A2BM-11A-13D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ac1b3eef-a009-421f-971e-e7d88064e62b	ee2a49ba-7a24-4021-bbd5-b6b314828893	g.chr20:25848606G>A	ENST00000478164.1	-	0	180				FAM182B_ENST00000376404.2_5'UTR			Q5T319	F182B_HUMAN	family with sequence similarity 182, member B											lung(1)	1						atcaccgtccgggcaggcctg	0.672																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0					20p11.1	2010-07-14			ENSG00000175170	ENSG00000175170			34503	pseudogene	pseudogene							Standard	NR_027061		Approved			Q5T319	OTTHUMG00000032136	ENST00000478164.1:c.-812C>T	20.37:g.25848606G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q4G0Q1	RNA	SNP	-	NULL	ENST00000478164.1	37	NULL		20																																																																																			FAM182B	-	-	ENSG00000175170		0.672	FAM182B-005	KNOWN	basic	processed_transcript	FAM182B	HGNC	protein_coding	OTTHUMT00000316665.1	27	0.00	0	G	NR_026714		25848606	25848606	-1	no_errors	ENST00000478164	ensembl	human	known	69_37n	rna	58	17.14	12	SNP	0.028	A
FRMD1	79981	genome.wustl.edu	37	6	168457889	168457889	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A2BM-01A-11D-A21Q-09	TCGA-AC-A2BM-11A-13D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ac1b3eef-a009-421f-971e-e7d88064e62b	ee2a49ba-7a24-4021-bbd5-b6b314828893	g.chr6:168457889C>T	ENST00000283309.6	-	11	1602	c.1538G>A	c.(1537-1539)tGc>tAc	p.C513Y	FRMD1_ENST00000537786.1_Missense_Mutation_p.C284Y|FRMD1_ENST00000440994.2_Missense_Mutation_p.C445Y|FRMD1_ENST00000432403.1_5'UTR	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	513						cytoskeleton (GO:0005856)				endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TGCCAGCCTGCAGTCCAGGGC	0.672																																					GBM(50;8 1094 9538 34399)|Ovarian(80;676 1857 8675 49015)	dbGAP											0													33.0	30.0	31.0					6																	168457889		2202	4299	6501	-	-	-	SO:0001583	missense	0				CCDS5306.1, CCDS47518.1	6q27	2008-10-23			ENSG00000153303	ENSG00000153303			21240	protein-coding gene	gene with protein product							Standard	NM_001122841		Approved	FLJ00181, DKFZp434O0117, FLJ40260, FLJ22615, bA164L23.1	uc003qwo.4	Q8N878	OTTHUMG00000016037	ENST00000283309.6:c.1538G>A	6.37:g.168457889C>T	ENSP00000283309:p.Cys513Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RNV8|B3KUM6|Q5SZU7|Q9UFB0	Missense_Mutation	SNP	pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain	p.C513Y	ENST00000283309.6	37	c.1538	CCDS5306.1	6	.	.	.	.	.	.	.	.	.	.	C	2.430	-0.331119	0.05314	.	.	ENSG00000153303	ENST00000283309;ENST00000440994;ENST00000537786	T;T;T	0.46819	0.86;0.86;0.86	2.91	-1.27	0.09347	.	0.232885	0.20739	U	0.086575	T	0.07908	0.0198	N	0.22421	0.69	0.09310	N	1	P;P;P;P	0.37731	0.607;0.607;0.589;0.607	B;B;B;B	0.40066	0.127;0.169;0.318;0.177	T	0.40156	-0.9578	10	0.02654	T	1	.	2.4304	0.04470	0.2176:0.3343:0.0:0.4481	.	448;513;445;408	B7Z8G9;Q8N878;Q8N878-2;Q5SZU5	.;FRMD1_HUMAN;.;.	Y	513;445;284	ENSP00000283309:C513Y;ENSP00000414115:C445Y;ENSP00000440078:C284Y	ENSP00000283309:C513Y	C	-	2	0	FRMD1	168200738	0.001000	0.12720	0.000000	0.03702	0.001000	0.01503	-0.183000	0.09712	-0.359000	0.08150	-0.470000	0.05040	TGC	FRMD1	-	NULL	ENSG00000153303		0.672	FRMD1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD1	HGNC	protein_coding	OTTHUMT00000362513.2	50	0.00	0	C	NM_024919		168457889	168457889	-1	no_errors	ENST00000283309	ensembl	human	known	69_37n	missense	34	10.53	4	SNP	0.002	T
GRIA4	2893	genome.wustl.edu	37	11	105850615	105850615	+	3'UTR	SNP	G	G	T			TCGA-AC-A2BM-01A-11D-A21Q-09	TCGA-AC-A2BM-11A-13D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ac1b3eef-a009-421f-971e-e7d88064e62b	ee2a49ba-7a24-4021-bbd5-b6b314828893	g.chr11:105850615G>T	ENST00000530497.1	+	0	2858				GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000282499.5_3'UTR|GRIA4_ENST00000393127.2_3'UTR			P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4						glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|vesicle (GO:0031982)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)		CCGGACATCAGCAGCAGCAAC	0.552																																						dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			U16129	CCDS8333.1, CCDS41706.1, CCDS41707.1	11q22	2012-08-29	2012-02-03		ENSG00000152578	ENSG00000152578		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4574	protein-coding gene	gene with protein product		138246	"""glutamate receptor, ionotrophic, AMPA 4"""	GLUR4			Standard	NM_001077244		Approved	GluA4, GLURD	uc001pix.2	P48058	OTTHUMG00000166236	ENST00000530497.1:c.*149G>T	11.37:g.105850615G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q86XE8	RNA	SNP	-	NULL	ENST00000530497.1	37	NULL	CCDS8333.1	11																																																																																			GRIA4	-	-	ENSG00000152578		0.552	GRIA4-005	KNOWN	basic|CCDS	protein_coding	GRIA4	HGNC	protein_coding	OTTHUMT00000388593.1	25	0.00	0	G			105850615	105850615	+1	no_errors	ENST00000533094	ensembl	human	putative	69_37n	rna	24	14.29	4	SNP	0.998	T
IGHV4-31	28396	genome.wustl.edu	37	14	106805299	106805299	+	RNA	SNP	A	A	G	rs61739267	byFrequency	TCGA-AC-A2BM-01A-11D-A21Q-09	TCGA-AC-A2BM-11A-13D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ac1b3eef-a009-421f-971e-e7d88064e62b	ee2a49ba-7a24-4021-bbd5-b6b314828893	g.chr14:106805299A>G	ENST00000438142.2	-	0	335									immunoglobulin heavy variable 4-31																		CTGATATGGTAACTCGACTCT	0.547																																						dbGAP											0													168.0	254.0	227.0					14																	106805299		1925	4137	6062	-	-	-			0			L10098		14q32.33	2012-02-08			ENSG00000231475	ENSG00000231475		"""Immunoglobulins / IGH locus"""	5649	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152097		14.37:g.106805299A>G		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	p.V88	ENST00000438142.2	37	c.264		14																																																																																			IGHV4-31	-	pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000231475		0.547	IGHV4-31-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IGHV4-31	HGNC	IG_V_gene	OTTHUMT00000325194.1	72	0.00	0	A	NG_001019		106805299	106805299	-1	no_stop_codon	ENST00000438142	ensembl	human	known	69_37n	silent	38	19.15	9	SNP	0.001	G
KIAA0195	9772	genome.wustl.edu	37	17	73491096	73491096	+	Silent	SNP	G	G	T			TCGA-AC-A2BM-01A-11D-A21Q-09	TCGA-AC-A2BM-11A-13D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ac1b3eef-a009-421f-971e-e7d88064e62b	ee2a49ba-7a24-4021-bbd5-b6b314828893	g.chr17:73491096G>T	ENST00000314256.7	+	20	3103	c.2709G>T	c.(2707-2709)ctG>ctT	p.L903L	KIAA0195_ENST00000579208.1_Silent_p.L554L|KIAA0195_ENST00000375248.5_Silent_p.L913L|AC100787.1_ENST00000579379.1_RNA	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	903						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGGCTCCCTGCATGATGACC	0.652																																						dbGAP											0													47.0	51.0	50.0					17																	73491096		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0				CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.2709G>T	17.37:g.73491096G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	O75536|Q86XF1	Silent	SNP	pfam_ATPase_P-typ_cation-transptr_C	p.L903	ENST00000314256.7	37	c.2709	CCDS32732.1	17																																																																																			KIAA0195	-	NULL	ENSG00000177728		0.652	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0195	HGNC	protein_coding	OTTHUMT00000447303.1	26	0.00	0	G	NM_014738		73491096	73491096	+1	no_errors	ENST00000314256	ensembl	human	known	69_37n	silent	30	11.76	4	SNP	1.000	T
MRPL17	63875	genome.wustl.edu	37	11	6704479	6704479	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A2BM-01A-11D-A21Q-09	TCGA-AC-A2BM-11A-13D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ac1b3eef-a009-421f-971e-e7d88064e62b	ee2a49ba-7a24-4021-bbd5-b6b314828893	g.chr11:6704479G>T	ENST00000288937.6	-	1	153	c.49C>A	c.(49-51)Cgt>Agt	p.R17S	MRPL17_ENST00000532676.1_5'Flank	NM_022061.3	NP_071344.1	Q9NRX2	RM17_HUMAN	mitochondrial ribosomal protein L17	17					translation (GO:0006412)	mitochondrial inner membrane (GO:0005743)|ribosome (GO:0005840)	protein domain specific binding (GO:0019904)|structural constituent of ribosome (GO:0003735)			lung(4)	4		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGGCCCATACGGCGAAATACG	0.632											OREG0020719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													43.0	40.0	41.0					11																	6704479		2201	4296	6497	-	-	-	SO:0001583	missense	0			AB051620	CCDS31412.1	11p15.5-p15.4	2012-09-13				ENSG00000158042		"""Mitochondrial ribosomal proteins / large subunits"""	14053	protein-coding gene	gene with protein product		611830					Standard	NM_022061		Approved	RPML26, MRP-L26	uc001men.2	Q9NRX2		ENST00000288937.6:c.49C>A	11.37:g.6704479G>T	ENSP00000288937:p.Arg17Ser	Somatic	636	WXS	Illumina GAIIx	Phase_IV	D3DQU3|Q6IAH8|Q96Q53|Q9C066	Missense_Mutation	SNP	pfam_Ribosomal_L17,superfamily_Ribosomal_L17,tigrfam_Ribosomal_L17	p.R17S	ENST00000288937.6	37	c.49	CCDS31412.1	11	.	.	.	.	.	.	.	.	.	.	G	20.6	4.022105	0.75275	.	.	ENSG00000158042	ENST00000288937;ENST00000532203	.	.	.	6.0	6.0	0.97389	.	0.114910	0.56097	D	0.000022	T	0.62986	0.2473	M	0.65498	2.005	0.42617	D	0.993337	P	0.45634	0.863	B	0.43701	0.428	T	0.67898	-0.5551	9	0.87932	D	0	-7.5947	18.0533	0.89356	0.0:0.0:1.0:0.0	.	17	Q9NRX2	RM17_HUMAN	S	17	.	ENSP00000288937:R17S	R	-	1	0	MRPL17	6661055	1.000000	0.71417	0.910000	0.35882	0.372000	0.29890	5.437000	0.66544	2.868000	0.98415	0.555000	0.69702	CGT	MRPL17	-	tigrfam_Ribosomal_L17	ENSG00000158042		0.632	MRPL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPL17	HGNC	protein_coding	OTTHUMT00000384544.1	70	0.00	0	G	NM_022061		6704479	6704479	-1	no_errors	ENST00000288937	ensembl	human	known	69_37n	missense	37	11.90	5	SNP	0.973	T
MUC4	4585	genome.wustl.edu	37	3	195507480	195507480	+	Silent	SNP	T	T	C			TCGA-AC-A2BM-01A-11D-A21Q-09	TCGA-AC-A2BM-11A-13D-A21Q-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ac1b3eef-a009-421f-971e-e7d88064e62b	ee2a49ba-7a24-4021-bbd5-b6b314828893	g.chr3:195507480T>C	ENST00000463781.3	-	2	11430	c.10971A>G	c.(10969-10971)gtA>gtG	p.V3657V	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.V3657V	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GACCTGTGGATACTGAGGAAG	0.582																																						dbGAP											0													16.0	13.0	13.0					3																	195507480		604	1459	2063	-	-	-	SO:0001819	synonymous_variant	0			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.10971A>G	3.37:g.195507480T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom	p.V3657	ENST00000463781.3	37	c.10971	CCDS54700.1	3																																																																																			MUC4	-	NULL	ENSG00000145113		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	46	0.00	0	T	NM_018406		195507480	195507480	-1	no_errors	ENST00000463781	ensembl	human	known	69_37n	silent	79	13.19	12	SNP	0.000	C
NTRK2	4915	genome.wustl.edu	37	9	87342736	87342736	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AC-A2BM-01A-11D-A21Q-09	TCGA-AC-A2BM-11A-13D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ac1b3eef-a009-421f-971e-e7d88064e62b	ee2a49ba-7a24-4021-bbd5-b6b314828893	g.chr9:87342736G>T	ENST00000323115.4	+	8	1374	c.1021G>T	c.(1021-1023)Gag>Tag	p.E341*	NTRK2_ENST00000277120.3_Nonsense_Mutation_p.E341*|NTRK2_ENST00000359847.3_Nonsense_Mutation_p.E341*|NTRK2_ENST00000376213.1_Nonsense_Mutation_p.E341*|NTRK2_ENST00000395866.2_Nonsense_Mutation_p.E185*|NTRK2_ENST00000304053.6_Nonsense_Mutation_p.E341*|NTRK2_ENST00000395882.1_Nonsense_Mutation_p.E341*|NTRK2_ENST00000376208.1_Nonsense_Mutation_p.E341*|NTRK2_ENST00000376214.1_Nonsense_Mutation_p.E341*			Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	341	Ig-like C2-type 2.				activation of adenylate cyclase activity (GO:0007190)|aging (GO:0007568)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|central nervous system neuron development (GO:0021954)|cerebral cortex development (GO:0021987)|circadian rhythm (GO:0007623)|feeding behavior (GO:0007631)|glutamate secretion (GO:0014047)|learning (GO:0007612)|long-term memory (GO:0007616)|long-term synaptic potentiation (GO:0060291)|mechanoreceptor differentiation (GO:0042490)|negative regulation of anoikis (GO:2000811)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular junction development (GO:0007528)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peripheral nervous system neuron development (GO:0048935)|positive regulation of axonogenesis (GO:0050772)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|protein autophosphorylation (GO:0046777)|regulation of dendrite development (GO:0050773)|regulation of neurotransmitter secretion (GO:0046928)|regulation of protein kinase B signaling (GO:0051896)|regulation of Rac GTPase activity (GO:0032314)|response to auditory stimulus (GO:0010996)|retinal rod cell development (GO:0046548)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vasculogenesis (GO:0001570)	cell surface (GO:0009986)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|endosome (GO:0005768)|excitatory synapse (GO:0060076)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|receptor complex (GO:0043235)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|brain-derived neurotrophic factor binding (GO:0048403)|brain-derived neurotrophic factor-activated receptor activity (GO:0060175)|neurotrophin binding (GO:0043121)|protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46					Amitriptyline(DB00321)	CAATCACACGGAGTACCACGG	0.448										TSP Lung(25;0.17)																												dbGAP											0													123.0	117.0	119.0					9																	87342736		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF410902	CCDS6671.1, CCDS35050.1, CCDS35051.1, CCDS35052.1, CCDS35053.1	9q22.1	2013-01-11			ENSG00000148053	ENSG00000148053	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8032	protein-coding gene	gene with protein product		600456				7789988	Standard	NM_001018065		Approved	TRKB	uc004anz.1	Q16620	OTTHUMG00000020120	ENST00000323115.4:c.1021G>T	9.37:g.87342736G>T	ENSP00000314586:p.Glu341*	Somatic		WXS	Illumina GAIIx	Phase_IV	B1ANZ4|B4DFV9|Q16675|Q59GJ1|Q8WXJ5|Q8WXJ6|Q8WXJ7	Nonsense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2	p.E341*	ENST00000323115.4	37	c.1021	CCDS35050.1	9	.	.	.	.	.	.	.	.	.	.	G	42	9.411524	0.99163	.	.	ENSG00000148053	ENST00000376214;ENST00000376213;ENST00000395882;ENST00000376208;ENST00000304053;ENST00000277120;ENST00000323115;ENST00000359847;ENST00000395866	.	.	.	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	20.2872	0.98536	0.0:0.0:1.0:0.0	.	.	.	.	X	341;341;341;341;341;341;341;341;185	.	ENSP00000277120:E341X	E	+	1	0	NTRK2	86532556	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.574000	0.82434	2.799000	0.96334	0.585000	0.79938	GAG	NTRK2	-	pfam_Ig_I-set,prints_Tyr_kin_neurotrophic_rcpt_2	ENSG00000148053		0.448	NTRK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTRK2	HGNC	protein_coding	OTTHUMT00000052882.1	45	0.00	0	G			87342736	87342736	+1	no_errors	ENST00000277120	ensembl	human	known	69_37n	nonsense	24	31.43	11	SNP	1.000	T
NUP153	9972	genome.wustl.edu	37	6	17637763	17637763	+	Silent	SNP	A	A	T			TCGA-AC-A2BM-01A-11D-A21Q-09	TCGA-AC-A2BM-11A-13D-A21Q-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ac1b3eef-a009-421f-971e-e7d88064e62b	ee2a49ba-7a24-4021-bbd5-b6b314828893	g.chr6:17637763A>T	ENST00000262077.2	-	16	2084	c.2085T>A	c.(2083-2085)acT>acA	p.T695T	NUP153_ENST00000537253.1_Silent_p.T726T	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	695					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TTTCAATTCCAGTCTGTTTAG	0.418																																						dbGAP											0													215.0	188.0	197.0					6																	17637763		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.2085T>A	6.37:g.17637763A>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Silent	SNP	pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.T726	ENST00000262077.2	37	c.2178	CCDS4541.1	6																																																																																			NUP153	-	NULL	ENSG00000124789		0.418	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP153	HGNC	protein_coding	OTTHUMT00000039953.1	45	0.00	0	A			17637763	17637763	-1	no_errors	ENST00000537253	ensembl	human	known	69_37n	silent	32	23.81	10	SNP	0.192	T
PCSK6	5046	genome.wustl.edu	37	15	101929764	101929764	+	Silent	SNP	G	G	A			TCGA-AC-A2BM-01A-11D-A21Q-09	TCGA-AC-A2BM-11A-13D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ac1b3eef-a009-421f-971e-e7d88064e62b	ee2a49ba-7a24-4021-bbd5-b6b314828893	g.chr15:101929764G>A	ENST00000348070.1	-	10	1211	c.1212C>T	c.(1210-1212)acC>acT	p.T404T	PCSK6_ENST00000398181.2_Silent_p.T404T|PCSK6_ENST00000331826.7_Silent_p.T239T|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Silent_p.T404T|PCSK6_ENST00000344273.2_Silent_p.T404T	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	405	Peptidase S8.				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCAGATCCGTGGTGACCTGGG	0.587																																						dbGAP											0													61.0	67.0	65.0					15																	101929764		2148	4256	6404	-	-	-	SO:0001819	synonymous_variant	0				CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.1212C>T	15.37:g.101929764G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.P279L	ENST00000348070.1	37	c.836		15																																																																																			PCSK6	-	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53	ENSG00000140479		0.587	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	PCSK6	HGNC	protein_coding		35	0.00	0	G	NM_002570		101929764	101929764	-1	no_start_codon:pseudogene:no_stop_codon	ENST00000559417	ensembl	human	novel	69_37n	missense	34	10.53	4	SNP	1.000	A
RNASEH2B	79621	genome.wustl.edu	37	13	51519622	51519622	+	Missense_Mutation	SNP	G	G	T			TCGA-AC-A2BM-01A-11D-A21Q-09	TCGA-AC-A2BM-11A-13D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ac1b3eef-a009-421f-971e-e7d88064e62b	ee2a49ba-7a24-4021-bbd5-b6b314828893	g.chr13:51519622G>T	ENST00000336617.3	+	7	969	c.570G>T	c.(568-570)caG>caT	p.Q190H	RNASEH2B_ENST00000422660.1_Missense_Mutation_p.Q190H|RNASEH2B_ENST00000495244.2_3'UTR	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B	190					in utero embryonic development (GO:0001701)|negative regulation of gene expression (GO:0010629)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of DNA damage checkpoint (GO:2000001)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|ribonucleotide metabolic process (GO:0009259)|RNA catabolic process (GO:0006401)	nucleus (GO:0005634)|ribonuclease H2 complex (GO:0032299)	RNA-DNA hybrid ribonuclease activity (GO:0004523)			endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		CCCGGGTACAGTCAACTGCAT	0.398																																						dbGAP											0													116.0	115.0	116.0					13																	51519622		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK021774	CCDS9425.1, CCDS45047.1	13q14.3	2014-09-17	2006-08-17	2006-08-17	ENSG00000136104	ENSG00000136104			25671	protein-coding gene	gene with protein product		610326	"""deleted in lymphocytic leukemia 8"", ""Aicardi-Goutieres syndrome 2"""	DLEU8, AGS2		16845400	Standard	NM_001142279		Approved	FLJ11712	uc001vfa.4	Q5TBB1	OTTHUMG00000016937	ENST00000336617.3:c.570G>T	13.37:g.51519622G>T	ENSP00000337623:p.Gln190His	Somatic		WXS	Illumina GAIIx	Phase_IV	G3XAJ1|Q05DR2|Q6PK48|Q9HAF7	Missense_Mutation	SNP	pfam_RNase_H2_suB	p.Q190H	ENST00000336617.3	37	c.570	CCDS9425.1	13	.	.	.	.	.	.	.	.	.	.	G	11.75	1.731917	0.30684	.	.	ENSG00000136104	ENST00000336617;ENST00000539292;ENST00000422660	D;D	0.96587	-4.06;-4.06	5.78	1.71	0.24356	.	0.291546	0.38217	N	0.001762	D	0.96577	0.8883	M	0.71581	2.175	0.39129	D	0.961811	D;D	0.76494	0.999;0.996	D;D	0.67103	0.938;0.949	D	0.94667	0.7853	10	0.44086	T	0.13	-16.3384	5.6402	0.17559	0.2655:0.1439:0.5906:0.0	.	190;190	G3XAJ1;Q5TBB1	.;RNH2B_HUMAN	H	190	ENSP00000337623:Q190H;ENSP00000389877:Q190H	ENSP00000337623:Q190H	Q	+	3	2	RNASEH2B	50417623	0.328000	0.24687	0.895000	0.35142	0.547000	0.35210	0.270000	0.18607	0.726000	0.32339	0.563000	0.77884	CAG	RNASEH2B	-	pfam_RNase_H2_suB	ENSG00000136104		0.398	RNASEH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASEH2B	HGNC	protein_coding	OTTHUMT00000045006.3	30	0.00	0	G	NM_024570		51519622	51519622	+1	no_errors	ENST00000336617	ensembl	human	known	69_37n	missense	14	17.65	3	SNP	0.960	T
SERPINF1	5176	genome.wustl.edu	37	17	1679825	1679825	+	Splice_Site	SNP	G	G	T			TCGA-AC-A2BM-01A-11D-A21Q-09	TCGA-AC-A2BM-11A-13D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ac1b3eef-a009-421f-971e-e7d88064e62b	ee2a49ba-7a24-4021-bbd5-b6b314828893	g.chr17:1679825G>T	ENST00000254722.4	+	7	949		c.e7-1			NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1						aging (GO:0007568)|cell proliferation (GO:0008283)|kidney development (GO:0001822)|multicellular organismal development (GO:0007275)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of inflammatory response (GO:0050728)|positive regulation of neurogenesis (GO:0050769)|regulation of proteolysis (GO:0030162)|response to glucocorticoid (GO:0051384)|response to retinoic acid (GO:0032526)|short-term memory (GO:0007614)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						ACTTGTCTCAGATTGCCCAGC	0.567																																						dbGAP											0													117.0	104.0	108.0					17																	1679825		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			M76979	CCDS11012.1	17p13.3	2014-02-18	2005-08-18		ENSG00000132386	ENSG00000132386		"""Serine (or cysteine) peptidase inhibitors"""	8824	protein-coding gene	gene with protein product	"""pigment epithelium-derived factor"", ""proliferation-inducing protein 35"""	172860	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1"""	PEDF		8434014, 24172014	Standard	NM_002615		Approved	EPC-1, PIG35	uc002ftl.3	P36955	OTTHUMG00000090571	ENST00000254722.4:c.787-1G>T	17.37:g.1679825G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	F1T092|Q13236|Q2TU83|Q96CT1|Q96R01|Q9BWA4	Splice_Site	SNP	-	e6-1	ENST00000254722.4	37	c.787-1	CCDS11012.1	17	.	.	.	.	.	.	.	.	.	.	G	12.19	1.863604	0.32884	.	.	ENSG00000132386	ENST00000254722	.	.	.	5.37	5.37	0.77165	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.1097	0.93312	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SERPINF1	1626575	1.000000	0.71417	0.999000	0.59377	0.229000	0.25112	8.432000	0.90288	2.519000	0.84933	0.561000	0.74099	.	SERPINF1	-	-	ENSG00000132386		0.567	SERPINF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINF1	HGNC	protein_coding	OTTHUMT00000207109.4	47	0.00	0	G	NM_002615	Intron	1679825	1679825	+1	no_errors	ENST00000254722	ensembl	human	known	69_37n	splice_site	21	12.50	3	SNP	1.000	T
SDK2	54549	genome.wustl.edu	37	17	71344748	71344748	+	Missense_Mutation	SNP	G	G	A			TCGA-AC-A2BM-01A-11D-A21Q-09	TCGA-AC-A2BM-11A-13D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ac1b3eef-a009-421f-971e-e7d88064e62b	ee2a49ba-7a24-4021-bbd5-b6b314828893	g.chr17:71344748G>A	ENST00000392650.3	-	44	6155	c.6155C>T	c.(6154-6156)tCc>tTc	p.S2052F	SDK2_ENST00000388726.3_Missense_Mutation_p.S2033F|SDK2_ENST00000410094.1_5'UTR	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2052					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CTGAGAGTCGGAGATTTCTGA	0.602																																						dbGAP											0													50.0	44.0	46.0					17																	71344748		2203	4299	6502	-	-	-	SO:0001583	missense	0			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.6155C>T	17.37:g.71344748G>A	ENSP00000376421:p.Ser2052Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S2052F	ENST00000392650.3	37	c.6155	CCDS45769.1	17	.	.	.	.	.	.	.	.	.	.	G	25.0	4.593499	0.86953	.	.	ENSG00000069188	ENST00000409227;ENST00000392650;ENST00000388726;ENST00000424778;ENST00000316893;ENST00000410094	T;T;T	0.67865	-0.25;-0.29;1.13	4.81	4.81	0.61882	.	0.000000	0.64402	D	0.000001	T	0.81113	0.4755	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.996;0.997	D	0.83848	0.0261	10	0.87932	D	0	.	16.6634	0.85247	0.0:0.0:1.0:0.0	.	2052;2033	Q58EX2;Q58EX2-3	SDK2_HUMAN;.	F	1676;2052;2033;1209;2052;393	ENSP00000376421:S2052F;ENSP00000373378:S2033F;ENSP00000407098:S1209F	ENSP00000324967:S2052F	S	-	2	0	SDK2	68856343	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.528000	0.98046	2.204000	0.70986	0.563000	0.77884	TCC	SDK2	-	NULL	ENSG00000069188		0.602	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2	50	0.00	0	G	NM_019064		71344748	71344748	-1	no_errors	ENST00000392650	ensembl	human	known	69_37n	missense	32	11.11	4	SNP	1.000	A
SFT2D1	113402	genome.wustl.edu	37	6	166737971	166737971	+	5'UTR	SNP	G	G	T			TCGA-AC-A2BM-01A-11D-A21Q-09	TCGA-AC-A2BM-11A-13D-A21Q-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ac1b3eef-a009-421f-971e-e7d88064e62b	ee2a49ba-7a24-4021-bbd5-b6b314828893	g.chr6:166737971G>T	ENST00000487841.1	-	0	552				SFT2D1_ENST00000361731.3_Intron					SFT2 domain containing 1											NS(1)|central_nervous_system(1)|large_intestine(3)|upper_aerodigestive_tract(1)	6		Breast(66;0.000148)|Prostate(117;0.109)|Ovarian(120;0.199)		OV - Ovarian serous cystadenocarcinoma(33;2.63e-19)|BRCA - Breast invasive adenocarcinoma(81;4.92e-06)|GBM - Glioblastoma multiforme(31;4.58e-05)		CAAACAAAATGCTCGTCACGT	0.502																																						dbGAP											0													86.0	67.0	73.0					6																	166737971		692	1591	2283	-	-	-	SO:0001623	5_prime_UTR_variant	0			AF041429	CCDS5292.1	6q27	2008-02-05	2005-07-25	2005-07-25	ENSG00000198818	ENSG00000198818			21102	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 83"""	C6orf83			Standard	NM_145169		Approved	MGC19825, pRGR1	uc003qux.3	Q8WV19	OTTHUMG00000016001	ENST00000487841.1:c.-2024C>A	6.37:g.166737971G>T		Somatic		WXS	Illumina GAIIx	Phase_IV		RNA	SNP	-	NULL	ENST00000487841.1	37	NULL		6																																																																																			SFT2D1	-	-	ENSG00000198818		0.502	SFT2D1-003	KNOWN	basic	processed_transcript	SFT2D1	HGNC	protein_coding	OTTHUMT00000043062.1	30	0.00	0	G	NM_145169		166737971	166737971	-1	no_errors	ENST00000479490	ensembl	human	known	69_37n	rna	9	25.00	3	SNP	0.001	T
SLC16A6	9120	genome.wustl.edu	37	17	66270159	66270159	+	Missense_Mutation	SNP	C	C	T			TCGA-AC-A2BM-01A-11D-A21Q-09	TCGA-AC-A2BM-11A-13D-A21Q-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ac1b3eef-a009-421f-971e-e7d88064e62b	ee2a49ba-7a24-4021-bbd5-b6b314828893	g.chr17:66270159C>T	ENST00000327268.4	-	4	449	c.285G>A	c.(283-285)atG>atA	p.M95I	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.M95I	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	95					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	GCCCCCCCAACATCACTACCA	0.537																																						dbGAP											0													85.0	73.0	77.0					17																	66270159		2203	4300	6503	-	-	-	SO:0001583	missense	0			U79745	CCDS11675.1	17q24.2	2013-07-18	2013-07-18		ENSG00000108932	ENSG00000108932		"""Solute carriers"""	10927	protein-coding gene	gene with protein product		603880	"""solute carrier family 16 (monocarboxylic acid transporters), member 6"", ""solute carrier family 16, member 6 (monocarboxylic acid transporter 7)"""			9425115	Standard	NM_004694		Approved	MCT6, MCT7	uc002jgz.2	O15403	OTTHUMG00000179812	ENST00000327268.4:c.285G>A	17.37:g.66270159C>T	ENSP00000319991:p.Met95Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6P1X3	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.M95I	ENST00000327268.4	37	c.285	CCDS11675.1	17	.	.	.	.	.	.	.	.	.	.	C	9.138	1.013099	0.19277	.	.	ENSG00000108932	ENST00000327268	T	0.43294	0.95	5.8	-0.00604	0.14015	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.122778	0.85682	N	0.000000	T	0.29389	0.0732	L	0.45285	1.41	0.50813	D	0.999898	B	0.21225	0.053	B	0.31101	0.124	T	0.06144	-1.0843	10	0.11485	T	0.65	.	7.0254	0.24936	0.3322:0.5404:0.0:0.1274	.	95	O15403	MOT7_HUMAN	I	95	ENSP00000319991:M95I	ENSP00000319991:M95I	M	-	3	0	SLC16A6	63781754	0.279000	0.24239	0.139000	0.22197	0.112000	0.19704	0.865000	0.27940	0.075000	0.16796	-0.126000	0.14955	ATG	SLC16A6	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000108932		0.537	SLC16A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC16A6	HGNC	protein_coding	OTTHUMT00000448323.1	43	0.00	0	C	NM_004694		66270159	66270159	-1	no_errors	ENST00000327268	ensembl	human	known	69_37n	missense	23	17.86	5	SNP	0.778	T
