#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
AADACL4	343066	genome.wustl.edu	37	1	12726571	12726571	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A091-01A-11W-A019-09	TCGA-A8-A091-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6618f367-c782-43a0-b5c8-a53d9bda6722	9732d7d3-7a55-4eba-9a18-76e59ca082a6	g.chr1:12726571G>A	ENST00000376221.1	+	4	1049	c.1049G>A	c.(1048-1050)cGt>cAt	p.R350H		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	350						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GACATACTCCGTGATGACAGC	0.488																																						dbGAP											0													99.0	97.0	97.0					1																	12726571		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.1049G>A	1.37:g.12726571G>A	ENSP00000365395:p.Arg350His			Missense_Mutation	SNP	pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase	p.R350H	ENST00000376221.1	37	c.1049	CCDS30590.1	1	.	.	.	.	.	.	.	.	.	.	G	12.29	1.894234	0.33442	.	.	ENSG00000204518	ENST00000376221	T	0.14766	2.48	4.38	0.414	0.16406	Alpha/beta hydrolase fold-3 (1);	0.000000	0.85682	D	0.000000	T	0.33760	0.0874	M	0.91196	3.185	0.41567	D	0.988662	D	0.56968	0.978	P	0.57057	0.812	T	0.21621	-1.0240	10	0.72032	D	0.01	-17.4839	8.4785	0.33027	0.3257:0.0:0.6743:0.0	.	350	Q5VUY2	ADCL4_HUMAN	H	350	ENSP00000365395:R350H	ENSP00000365395:R350H	R	+	2	0	AADACL4	12649158	0.521000	0.26258	0.014000	0.15608	0.006000	0.05464	3.339000	0.52135	-0.091000	0.12440	-0.136000	0.14681	CGT	AADACL4	-	pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase	ENSG00000204518		0.488	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AADACL4	HGNC	protein_coding	OTTHUMT00000005328.1	137	0.72	1	G	NM_001013630		12726571	12726571	+1	no_errors	ENST00000376221	ensembl	human	known	69_37n	missense	84	50.88	87	SNP	0.870	A
ACOT4	122970	genome.wustl.edu	37	14	74060511	74060512	+	Frame_Shift_Ins	INS	-	-	TCAA	rs79684878|rs373880503	byFrequency	TCGA-A8-A091-01A-11W-A019-09	TCGA-A8-A091-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6618f367-c782-43a0-b5c8-a53d9bda6722	9732d7d3-7a55-4eba-9a18-76e59ca082a6	g.chr14:74060511_74060512insTCAA	ENST00000326303.4	+	2	817_818	c.563_564insTCAA	c.(562-567)ctagctfs	p.A189fs		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	189				ALAY -> DLQS (in Ref. 1; BAC04313). {ECO:0000305}.	acyl-CoA metabolic process (GO:0006637)|dicarboxylic acid catabolic process (GO:0043649)|dicarboxylic acid metabolic process (GO:0043648)|long-chain fatty acid metabolic process (GO:0001676)|saturated monocarboxylic acid metabolic process (GO:0032788)|short-chain fatty acid metabolic process (GO:0046459)|succinyl-CoA metabolic process (GO:0006104)|unsaturated monocarboxylic acid metabolic process (GO:0032789)|very long-chain fatty acid metabolic process (GO:0000038)	peroxisome (GO:0005777)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|succinyl-CoA hydrolase activity (GO:0004778)			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		ACGTTGGCTCTAGCTTATTATA	0.495														6	0.00119808	0.0	0.0	5008	,	,		16663	0.0		0.006	False		,,,				2504	0.0					dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			BC031799	CCDS9817.1	14q24.1	2011-02-16			ENSG00000177465	ENSG00000177465		"""Acyl CoA thioesterases"""	19748	protein-coding gene	gene with protein product		614314				16103133, 16940157	Standard	NM_152331		Approved	FLJ31235, PTE-Ib, PTE2B	uc001xoo.3	Q8N9L9	OTTHUMG00000169485	Exception_encountered	14.37:g.74060511_74060512insTCAA	ENSP00000323071:p.Ala189fs		Q17RF4|Q5BKT6|Q86TX0|Q86TX1|Q96N88	Frame_Shift_Ins	INS	pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	p.A189fs	ENST00000326303.4	37	c.563_564	CCDS9817.1	14																																																																																			ACOT4	-	pirsf_Acyl-CoA_thioEstase_long-chain	ENSG00000177465		0.495	ACOT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT4	HGNC	protein_coding	OTTHUMT00000404298.2	65	0.00	0	-	NM_152331		74060511	74060512	+1	no_errors	ENST00000326303	ensembl	human	known	69_37n	frame_shift_ins	38	17.39	8	INS	0.964:0.950	TCAA
ACOT4	122970	genome.wustl.edu	37	14	74060514	74060517	+	Frame_Shift_Del	DEL	CTTA	CTTA	-	rs74553611|rs562751690|rs77261428|rs77814755|rs375801976|rs77408762	byFrequency	TCGA-A8-A091-01A-11W-A019-09	TCGA-A8-A091-10A-01W-A021-09	CTTA	CTTA					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6618f367-c782-43a0-b5c8-a53d9bda6722	9732d7d3-7a55-4eba-9a18-76e59ca082a6	g.chr14:74060514_74060517delCTTA	ENST00000326303.4	+	2	820_823	c.566_569delCTTA	c.(565-570)gcttatfs	p.AY189fs		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	189				ALAY -> DLQS (in Ref. 1; BAC04313). {ECO:0000305}.	acyl-CoA metabolic process (GO:0006637)|dicarboxylic acid catabolic process (GO:0043649)|dicarboxylic acid metabolic process (GO:0043648)|long-chain fatty acid metabolic process (GO:0001676)|saturated monocarboxylic acid metabolic process (GO:0032788)|short-chain fatty acid metabolic process (GO:0046459)|succinyl-CoA metabolic process (GO:0006104)|unsaturated monocarboxylic acid metabolic process (GO:0032789)|very long-chain fatty acid metabolic process (GO:0000038)	peroxisome (GO:0005777)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)|succinyl-CoA hydrolase activity (GO:0004778)	p.A189fs*32(2)		endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		TTGGCTCTAGCTTATTATAACTTT	0.495																																						dbGAP											2	Deletion - Frameshift(2)	large_intestine(2)								103,4159		3,97,2031						4.3	1.0			126	861,7311		130,601,3355	no	frameshift	ACOT4	NM_152331.3		133,698,5386	A1A1,A1R,RR		10.536,2.4167,7.7529				964,11470				-	-	-	SO:0001589	frameshift_variant	0			BC031799	CCDS9817.1	14q24.1	2011-02-16			ENSG00000177465	ENSG00000177465		"""Acyl CoA thioesterases"""	19748	protein-coding gene	gene with protein product		614314				16103133, 16940157	Standard	NM_152331		Approved	FLJ31235, PTE-Ib, PTE2B	uc001xoo.3	Q8N9L9	OTTHUMG00000169485	ENST00000326303.4:c.566_569delCTTA	14.37:g.74060514_74060517delCTTA	ENSP00000323071:p.Ala189fs		Q17RF4|Q5BKT6|Q86TX0|Q86TX1|Q96N88	Frame_Shift_Del	DEL	pfam_BAAT_C,pfam_Thio_Ohase/aa_AcTrfase,pirsf_Acyl-CoA_thioEstase_long-chain	p.A189fs	ENST00000326303.4	37	c.566_569	CCDS9817.1	14																																																																																			ACOT4	-	pirsf_Acyl-CoA_thioEstase_long-chain	ENSG00000177465		0.495	ACOT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOT4	HGNC	protein_coding	OTTHUMT00000404298.2	60	0.00	0	CTTA	NM_152331		74060514	74060517	+1	no_errors	ENST00000326303	ensembl	human	known	69_37n	frame_shift_del	36	17.78	8	DEL	1.000:1.000:1.000:1.000	-
APOB	338	genome.wustl.edu	37	2	21236081	21236081	+	Silent	SNP	G	G	A			TCGA-A8-A091-01A-11W-A019-09	TCGA-A8-A091-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6618f367-c782-43a0-b5c8-a53d9bda6722	9732d7d3-7a55-4eba-9a18-76e59ca082a6	g.chr2:21236081G>A	ENST00000233242.1	-	25	4294	c.4167C>T	c.(4165-4167)taC>taT	p.Y1389Y		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1389					artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTTCATGTGGTAACGAGCCC	0.532																																						dbGAP											0													163.0	152.0	156.0					2																	21236081		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.4167C>T	2.37:g.21236081G>A			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.Y1389	ENST00000233242.1	37	c.4167	CCDS1703.1	2																																																																																			APOB	-	NULL	ENSG00000084674		0.532	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1	241	0.00	0	G			21236081	21236081	-1	no_errors	ENST00000233242	ensembl	human	known	69_37n	silent	188	27.41	71	SNP	0.134	A
ARFGEF2	10564	genome.wustl.edu	37	20	47632847	47632847	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A091-01A-11W-A019-09	TCGA-A8-A091-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6618f367-c782-43a0-b5c8-a53d9bda6722	9732d7d3-7a55-4eba-9a18-76e59ca082a6	g.chr20:47632847C>T	ENST00000371917.4	+	31	4210	c.4210C>T	c.(4210-4212)Cac>Tac	p.H1404Y		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1404					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AACCTGCAATCACGCACTTTA	0.388																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	dbGAP											0													200.0	174.0	183.0					20																	47632847		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.4210C>T	20.37:g.47632847C>T	ENSP00000360985:p.His1404Tyr		Q5TFT9|Q9NTS1	Missense_Mutation	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.H1404Y	ENST00000371917.4	37	c.4210	CCDS13411.1	20	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017727	0.93404	.	.	ENSG00000124198	ENST00000371917	T	0.58506	0.33	5.52	5.52	0.82312	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.81716	0.4881	M	0.89904	3.07	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.85254	0.1046	10	0.87932	D	0	.	19.437	0.94799	0.0:1.0:0.0:0.0	.	1404	Q9Y6D5	BIG2_HUMAN	Y	1404	ENSP00000360985:H1404Y	ENSP00000360985:H1404Y	H	+	1	0	ARFGEF2	47066254	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.587000	0.87381	0.591000	0.81541	CAC	ARFGEF2	-	superfamily_ARM-type_fold	ENSG00000124198		0.388	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	HGNC	protein_coding	OTTHUMT00000079627.1	75	0.00	0	C	NM_006420		47632847	47632847	+1	no_errors	ENST00000371917	ensembl	human	known	69_37n	missense	231	12.17	32	SNP	1.000	T
AXIN1	8312	genome.wustl.edu	37	16	396381	396381	+	Silent	SNP	C	C	T			TCGA-A8-A091-01A-11W-A019-09	TCGA-A8-A091-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6618f367-c782-43a0-b5c8-a53d9bda6722	9732d7d3-7a55-4eba-9a18-76e59ca082a6	g.chr16:396381C>T	ENST00000262320.3	-	2	1016	c.645G>A	c.(643-645)tcG>tcA	p.S215S	AXIN1_ENST00000354866.3_Silent_p.S215S|AXIN1_ENST00000481769.1_Intron	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	215	Interaction with TP53. {ECO:0000250}.				activation of JUN kinase activity (GO:0007257)|activation of protein kinase activity (GO:0032147)|apoptotic process (GO:0006915)|axial mesoderm formation (GO:0048320)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in neural plate anterior/posterior pattern formation (GO:0060823)|cell death (GO:0008219)|cellular protein complex assembly (GO:0043623)|cellular response to organic cyclic compound (GO:0071407)|cytoplasmic microtubule organization (GO:0031122)|determination of left/right symmetry (GO:0007368)|dorsal/ventral axis specification (GO:0009950)|embryonic eye morphogenesis (GO:0048048)|embryonic skeletal joint morphogenesis (GO:0060272)|forebrain anterior/posterior pattern specification (GO:0021797)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|muscle cell development (GO:0055001)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of protein metabolic process (GO:0051248)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|negative regulation of Wnt signaling pathway (GO:0030178)|nucleocytoplasmic transport (GO:0006913)|olfactory placode formation (GO:0030910)|optic placode formation (GO:0001743)|positive regulation of GTPase activity (GO:0043547)|positive regulation of JNK cascade (GO:0046330)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|post-anal tail morphogenesis (GO:0036342)|protein catabolic process (GO:0030163)|protein homooligomerization (GO:0051260)|protein polyubiquitination (GO:0000209)|regulation of catenin import into nucleus (GO:0035412)|sensory perception of sound (GO:0007605)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)|Wnt-activated signaling pathway involved in forebrain neuron fate commitment (GO:0021881)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|cell periphery (GO:0071944)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lateral plasma membrane (GO:0016328)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|protein complex scaffold (GO:0032947)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|ubiquitin protein ligase binding (GO:0031625)			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				TGGGGCTCTCCGAGCCTGTCC	0.498											OREG0003698	type=REGULATORY REGION|Gene=AXIN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																										dbGAP											0													74.0	77.0	76.0					16																	396381		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF009674	CCDS10405.1, CCDS10406.1	16p13.3	2012-04-17			ENSG00000103126	ENSG00000103126		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	903	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 49"""	603816				9230313	Standard	NM_003502		Approved	PPP1R49	uc002cgp.2	O15169	OTTHUMG00000064930	ENST00000262320.3:c.645G>A	16.37:g.396381C>T		588	Q4TT26|Q4TT27|Q86YA7|Q8WVW6|Q96S28	Silent	SNP	pfam_DIX,pfam_Regulat_G_prot_signal,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.S215	ENST00000262320.3	37	c.645	CCDS10405.1	16																																																																																			AXIN1	-	superfamily_Regulat_G_prot_signal_superfam	ENSG00000103126		0.498	AXIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AXIN1	HGNC	protein_coding	OTTHUMT00000139441.3	54	0.00	0	C			396381	396381	-1	no_errors	ENST00000262320	ensembl	human	known	69_37n	silent	33	41.07	23	SNP	0.854	T
BTBD3	22903	genome.wustl.edu	37	20	11903291	11903291	+	Silent	SNP	T	T	C			TCGA-A8-A091-01A-11W-A019-09	TCGA-A8-A091-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6618f367-c782-43a0-b5c8-a53d9bda6722	9732d7d3-7a55-4eba-9a18-76e59ca082a6	g.chr20:11903291T>C	ENST00000405977.1	+	5	1171	c.546T>C	c.(544-546)taT>taC	p.Y182Y	BTBD3_ENST00000399006.2_Silent_p.Y121Y|BTBD3_ENST00000254977.3_Silent_p.Y121Y|BTBD3_ENST00000378226.2_Silent_p.Y182Y|BTBD3_ENST00000488503.1_3'UTR	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	182	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cerebral cortex development (GO:0021987)|dendrite morphogenesis (GO:0048813)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						GATATATCTATTGTGATGAAA	0.393																																						dbGAP											0													83.0	80.0	81.0					20																	11903291		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB023169	CCDS13113.1, CCDS13114.1	20p12.2	2013-01-08			ENSG00000132640	ENSG00000132640		"""BTB/POZ domain containing"""	15854	protein-coding gene	gene with protein product		615566					Standard	NM_001282551		Approved	KIAA0952, dJ742J24.1	uc002wnz.3	Q9Y2F9	OTTHUMG00000031889	ENST00000405977.1:c.546T>C	20.37:g.11903291T>C			D3DW19|Q5JY73	Silent	SNP	pfam_PHR,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like	p.Y182	ENST00000405977.1	37	c.546	CCDS13113.1	20																																																																																			BTBD3	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	ENSG00000132640		0.393	BTBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTBD3	HGNC	protein_coding	OTTHUMT00000078021.3	173	0.00	0	T			11903291	11903291	+1	no_errors	ENST00000378226	ensembl	human	known	69_37n	silent	72	56.10	92	SNP	1.000	C
CD93	22918	genome.wustl.edu	37	20	23065886	23065887	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A091-01A-11W-A019-09	TCGA-A8-A091-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6618f367-c782-43a0-b5c8-a53d9bda6722	9732d7d3-7a55-4eba-9a18-76e59ca082a6	g.chr20:23065886_23065887insC	ENST00000246006.4	-	1	1090_1091	c.943_944insG	c.(943-945)gccfs	p.A315fs		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	315	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GACGCACGTGGCCCCCCCACGA	0.634																																						dbGAP											0										10,4254		0,10,2122						4.4	0.0			45	12,8238		0,12,4113	no	frameshift	CD93	NM_012072.3		0,22,6235	A1A1,A1R,RR		0.1455,0.2345,0.1758				22,12492				-	-	-	SO:0001589	frameshift_variant	0			U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.944dupG	20.37:g.23065893_23065893dupC	ENSP00000246006:p.Ala315fs		O00274	Frame_Shift_Ins	INS	pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_CD93/CD141,pfscan_EG-like_dom,pfscan_C-type_lectin	p.A315fs	ENST00000246006.4	37	c.944_943	CCDS13149.1	20																																																																																			CD93	-	pfam_EGF-like_dom,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_CD93/CD141,pfscan_EG-like_dom	ENSG00000125810		0.634	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CD93	HGNC	protein_coding	OTTHUMT00000078312.2	34	0.00	0	-	NM_012072		23065886	23065887	-1	no_errors	ENST00000246006	ensembl	human	known	69_37n	frame_shift_ins	18	14.29	3	INS	0.008:0.011	C
CDH1	999	genome.wustl.edu	37	16	68844139	68844139	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A091-01A-11W-A019-09	TCGA-A8-A091-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6618f367-c782-43a0-b5c8-a53d9bda6722	9732d7d3-7a55-4eba-9a18-76e59ca082a6	g.chr16:68844139G>A	ENST00000261769.5	+	6	918	c.727G>A	c.(727-729)Gag>Aag	p.E243K	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.E243K	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	243	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(4)|p.E243*(2)|p.E243K(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GAATGCAGTTGAGGATCCAAT	0.493			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	7	Unknown(4)|Substitution - Nonsense(2)|Substitution - Missense(1)	breast(7)											161.0	149.0	153.0					16																	68844139		2198	4300	6498	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.727G>A	16.37:g.68844139G>A	ENSP00000261769:p.Glu243Lys		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E243K	ENST00000261769.5	37	c.727	CCDS10869.1	16	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006465	0.74932	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.53857	0.6;0.6	5.22	5.22	0.72569	Cadherin (4);Cadherin-like (1);	0.000000	0.49916	D	0.000129	T	0.79137	0.4395	M	0.90870	3.155	0.80722	D	1	P;D	0.89917	0.955;1.0	P;D	0.87578	0.758;0.998	D	0.84040	0.0364	10	0.87932	D	0	.	17.9295	0.88992	0.0:0.0:1.0:0.0	.	243;243	Q9UII8;P12830	.;CADH1_HUMAN	K	243	ENSP00000261769:E243K;ENSP00000414946:E243K	ENSP00000261769:E243K	E	+	1	0	CDH1	67401640	1.000000	0.71417	0.566000	0.28421	0.030000	0.12068	9.476000	0.97823	2.592000	0.87571	0.557000	0.71058	GAG	CDH1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000039068		0.493	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	238	0.00	0	G	NM_004360		68844139	68844139	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	missense	58	68.28	127	SNP	0.999	A
CEP68	23177	genome.wustl.edu	37	2	65298871	65298871	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A091-01A-11W-A019-09	TCGA-A8-A091-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6618f367-c782-43a0-b5c8-a53d9bda6722	9732d7d3-7a55-4eba-9a18-76e59ca082a6	g.chr2:65298871C>T	ENST00000377990.2	+	3	844	c.641C>T	c.(640-642)gCg>gTg	p.A214V	CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000260569.4_Missense_Mutation_p.A214V|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000546106.1_Missense_Mutation_p.A214V|CEP68_ENST00000537589.1_5'UTR	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	214					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CAGGAGAGGGCGGAGCCTCGT	0.657																																						dbGAP											0													48.0	51.0	50.0					2																	65298871		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"""KIAA0582"""	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.641C>T	2.37:g.65298871C>T	ENSP00000367229:p.Ala214Val		B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Missense_Mutation	SNP	NULL	p.A214V	ENST00000377990.2	37	c.641	CCDS1880.2	2	.	.	.	.	.	.	.	.	.	.	C	9.289	1.050228	0.19827	.	.	ENSG00000011523	ENST00000377990;ENST00000546106;ENST00000260569;ENST00000545501	T;T;T	0.18502	2.22;2.21;2.22	5.98	-2.44	0.06502	.	0.908048	0.09360	N	0.812804	T	0.08313	0.0207	L	0.36672	1.1	0.09310	N	0.999999	B;B;B;B;B	0.31817	0.108;0.108;0.054;0.054;0.341	B;B;B;B;B	0.19148	0.024;0.024;0.01;0.007;0.024	T	0.37079	-0.9721	10	0.13108	T	0.6	0.0082	3.1892	0.06612	0.1053:0.3957:0.1037:0.3953	.	202;214;214;214;214	F5H3N9;F5H2Y2;Q76N32;Q76N32-2;Q05C09	.;.;CEP68_HUMAN;.;.	V	214;214;214;202	ENSP00000367229:A214V;ENSP00000438306:A214V;ENSP00000260569:A214V	ENSP00000260569:A214V	A	+	2	0	CEP68	65152375	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.685000	0.00834	-0.876000	0.04017	-1.057000	0.02308	GCG	CEP68	-	NULL	ENSG00000011523		0.657	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP68	HGNC	protein_coding	OTTHUMT00000251727.2	62	0.00	0	C	NM_015147		65298871	65298871	+1	no_errors	ENST00000377990	ensembl	human	known	69_37n	missense	44	24.14	14	SNP	0.000	T
DAGLA	747	genome.wustl.edu	37	11	61511439	61511440	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A091-01A-11W-A019-09	TCGA-A8-A091-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6618f367-c782-43a0-b5c8-a53d9bda6722	9732d7d3-7a55-4eba-9a18-76e59ca082a6	g.chr11:61511439_61511440insC	ENST00000257215.5	+	20	2723_2724	c.2607_2608insC	c.(2608-2610)cccfs	p.P870fs	RP11-467L20.10_ENST00000536405.1_lincRNA	NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	870					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|cell death (GO:0008219)|diacylglycerol catabolic process (GO:0046340)|endocannabinoid signaling pathway (GO:0071926)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CTCCTGAGCGGCCCCCCAGTGC	0.738																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB014559	CCDS31578.1	11q12.3	2008-03-18	2007-02-28	2007-02-28		ENSG00000134780	3.1.1.-		1165	protein-coding gene	gene with protein product	"""neural stem cell-derived dendrite regulator"""	614015	"""chromosome 11 open reading frame 11"""	C11orf11		9734811	Standard	NM_006133		Approved	KIAA0659, NSDDR, DAGLALPHA	uc001nsa.3	Q9Y4D2		ENST00000257215.5:c.2613dupC	11.37:g.61511445_61511445dupC	ENSP00000257215:p.Pro870fs		A7E233|Q6WQJ0	Frame_Shift_Ins	INS	pfam_Lipase_3	p.S871fs	ENST00000257215.5	37	c.2607_2608	CCDS31578.1	11																																																																																			DAGLA	-	NULL	ENSG00000134780		0.738	DAGLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLA	HGNC	protein_coding	OTTHUMT00000398516.1	10	0.00	0	-	NM_006133		61511439	61511440	+1	no_errors	ENST00000257215	ensembl	human	known	69_37n	frame_shift_ins	6	33.33	3	INS	1.000:1.000	C
DRD5	1816	genome.wustl.edu	37	4	9784610	9784610	+	Silent	SNP	C	C	A			TCGA-A8-A091-01A-11W-A019-09	TCGA-A8-A091-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6618f367-c782-43a0-b5c8-a53d9bda6722	9732d7d3-7a55-4eba-9a18-76e59ca082a6	g.chr4:9784610C>A	ENST00000304374.2	+	1	1353	c.957C>A	c.(955-957)gtC>gtA	p.V319V		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	319					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|associative learning (GO:0008306)|cellular calcium ion homeostasis (GO:0006874)|cellular response to catecholamine stimulus (GO:0071870)|long term synaptic depression (GO:0060292)|negative regulation of blood pressure (GO:0045776)|negative regulation of NAD(P)H oxidase activity (GO:0033861)|norepinephrine-epinephrine vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001994)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of adenylate cyclase activity involved in G-protein coupled receptor signaling pathway (GO:0010579)|reactive oxygen species metabolic process (GO:0072593)|regulation of female receptivity (GO:0045924)|regulation of systemic arterial blood pressure by vasopressin (GO:0001992)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|sensitization (GO:0046960)|synaptic transmission (GO:0007268)|synaptic transmission, dopaminergic (GO:0001963)|transmission of nerve impulse (GO:0019226)|wound healing (GO:0042060)	brush border membrane (GO:0031526)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dopamine binding (GO:0035240)|dopamine neurotransmitter receptor activity (GO:0004952)|dopamine neurotransmitter receptor activity, coupled via Gs (GO:0001588)			NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinnarizine(DB00568)|Dopamine(DB00988)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|L-DOPA(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Pergolide(DB01186)|Pramipexole(DB00413)|Quetiapine(DB01224)|Ropinirole(DB00268)|Rotigotine(DB05271)|Trimipramine(DB00726)|Ziprasidone(DB00246)	ACTGCATGGTCCCTTTCTGCA	0.582																																						dbGAP											0													78.0	78.0	78.0					4																	9784610		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X58454	CCDS3405.1	4p16.1	2012-08-08			ENSG00000169676	ENSG00000169676		"""GPCR / Class A : Dopamine receptors"""	3026	protein-coding gene	gene with protein product		126453		DRD1L2		1774076	Standard	NM_000798		Approved	DRD1B	uc003gmb.4	P21918	OTTHUMG00000128489	ENST00000304374.2:c.957C>A	4.37:g.9784610C>A			B2R9S3|Q8NEQ8	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Dopa_1B_rcpt,prints_Dopamine_rcpt	p.V319	ENST00000304374.2	37	c.957	CCDS3405.1	4																																																																																			DRD5	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000169676		0.582	DRD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DRD5	HGNC	protein_coding	OTTHUMT00000250293.1	94	0.00	0	C			9784610	9784610	+1	no_errors	ENST00000304374	ensembl	human	known	69_37n	silent	35	39.66	23	SNP	0.993	A
FADS2	9415	genome.wustl.edu	37	11	61596023	61596024	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A091-01A-11W-A019-09	TCGA-A8-A091-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6618f367-c782-43a0-b5c8-a53d9bda6722	9732d7d3-7a55-4eba-9a18-76e59ca082a6	g.chr11:61596023_61596024insG	ENST00000278840.4	+	1	791_792	c.161_162insG	c.(160-165)ccggggfs	p.PG54fs	FADS2_ENST00000522056.1_Intron|FADS2_ENST00000257261.6_Intron|FADS2_ENST00000521849.1_Frame_Shift_Ins_p.PG54fs	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	54	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)	p.Q57fs*22(1)		breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	ATCCAGCACCCGGGGGGCCAGC	0.604											OREG0021015	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Insertion - Frameshift(1)	ovary(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"""Fatty acid desaturases"""	3575	protein-coding gene	gene with protein product	"""delta-6-desaturase"""	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000278840.4:c.167dupG	11.37:g.61596029_61596029dupG	ENSP00000278840:p.Pro54fs	1054	A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	Frame_Shift_Ins	INS	pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5,superfamily_Cyt_B5,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5	p.Q57fs	ENST00000278840.4	37	c.161_162	CCDS8012.1	11																																																																																			FADS2	-	pfam_Cyt_B5,superfamily_Cyt_B5,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5	ENSG00000134824		0.604	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FADS2	HGNC	protein_coding	OTTHUMT00000375586.2	18	0.00	0	-	NM_004265		61596023	61596024	+1	no_errors	ENST00000278840	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	1.000:0.984	G
FAM86C2P	645332	genome.wustl.edu	37	11	67564293	67564293	+	RNA	SNP	T	T	A	rs117919932	byFrequency	TCGA-A8-A091-01A-11W-A019-09	TCGA-A8-A091-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6618f367-c782-43a0-b5c8-a53d9bda6722	9732d7d3-7a55-4eba-9a18-76e59ca082a6	g.chr11:67564293T>A	ENST00000528089.1	-	0	847							A6NEL3	F86C2_HUMAN	family with sequence similarity 86, member C2, pseudogene									p.I57I(1)									GCTTCTGGGCTATACAGCACG	0.617													.|||	1498	0.299121	0.4554	0.2133	5008	,	,		13580	0.1964		0.3211	False		,,,				2504	0.2321					dbGAP											1	Substitution - coding silent(1)	endometrium(1)																																								-	-	-			0					11q13.2	2011-07-07			ENSG00000160172	ENSG00000160172			42392	pseudogene	pseudogene							Standard	NR_024249		Approved		uc001omt.4	A6NEL3	OTTHUMG00000167222		11.37:g.67564293T>A				RNA	SNP	-	NULL	ENST00000528089.1	37	NULL		11																																																																																			FAM86C2P	-	-	ENSG00000160172		0.617	FAM86C2P-004	KNOWN	basic	processed_transcript	FAM86C2P	HGNC	pseudogene	OTTHUMT00000393796.1	19	0.00	0	T			67564293	67564293	-1	no_errors	ENST00000525180	ensembl	human	known	69_37n	rna	4	60.00	6	SNP	0.706	A
GPR114	221188	genome.wustl.edu	37	16	57596358	57596359	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A091-01A-11W-A019-09	TCGA-A8-A091-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6618f367-c782-43a0-b5c8-a53d9bda6722	9732d7d3-7a55-4eba-9a18-76e59ca082a6	g.chr16:57596358_57596359insT	ENST00000340339.4	+	3	650_651	c.127_128insT	c.(127-129)gttfs	p.V43fs	GPR114_ENST00000349457.3_Frame_Shift_Ins_p.V43fs|GPR114_ENST00000394361.4_3'UTR	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	43					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						CCGGAGCTCAGTTTTTTCCTCT	0.525																																						dbGAP											0										0,4264		0,0,2132						-5.0	0.0			99	2,8252		0,2,4125	no	frameshift	GPR114	NM_153837.1		0,2,6257	A1A1,A1R,RR		0.0242,0.0,0.016				2,12516				-	-	-	SO:0001589	frameshift_variant	0			AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"""-"", ""GPCR / Class B : Orphans"""	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.133dupT	16.37:g.57596364_57596364dupT	ENSP00000342981:p.Val43fs		B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Frame_Shift_Ins	INS	pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56	p.S45fs	ENST00000340339.4	37	c.127_128	CCDS10785.1	16																																																																																			GPR114	-	NULL	ENSG00000159618		0.525	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR114	HGNC	protein_coding	OTTHUMT00000257336.3	9	0.00	0	-	NM_153837		57596358	57596359	+1	no_errors	ENST00000340339	ensembl	human	known	69_37n	frame_shift_ins	4	33.33	2	INS	0.000:0.000	T
ICOSLG	23308	genome.wustl.edu	37	21	45651325	45651326	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-A8-A091-01A-11W-A019-09	TCGA-A8-A091-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6618f367-c782-43a0-b5c8-a53d9bda6722	9732d7d3-7a55-4eba-9a18-76e59ca082a6	g.chr21:45651325_45651326insGC	ENST00000407780.3	-	5	826_827	c.699_700insGC	c.(697-702)ggaaatfs	p.N234fs	ICOSLG_ENST00000344330.4_Frame_Shift_Ins_p.N234fs|ICOSLG_ENST00000400379.3_Frame_Shift_Ins_p.N234fs|ICOSLG_ENST00000400377.3_Frame_Shift_Ins_p.N117fs	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	234					B cell activation (GO:0042113)|defense response (GO:0006952)|hyperosmotic response (GO:0006972)|positive regulation of activated T cell proliferation (GO:0042104)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		CCGATGTCATTTCCTACAAGAA	0.446																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB014553	CCDS42952.1, CCDS63377.1, CCDS63379.1	21q22.3	2014-01-30		2005-01-12	ENSG00000160223	ENSG00000160223		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Endogenous ligands"""	17087	protein-coding gene	gene with protein product	"""B7-related protein 1"", ""B7 homologue 2"", ""B7 homolog 2"""	605717		ICOSL		9734811, 11007762	Standard	NM_001283050		Approved	KIAA0653, GL50, B7-H2, B7RP-1, B7H2, B7RP1, ICOS-L, CD275	uc002zee.3	O75144	OTTHUMG00000086920	ENST00000407780.3:c.699_700insGC	21.37:g.45651325_45651326insGC	ENSP00000384432:p.Asn234fs		A8MUZ1|Q9HD18|Q9NRQ1	Frame_Shift_Ins	INS	pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like	p.N233fs	ENST00000407780.3	37	c.700_699	CCDS42952.1	21																																																																																			ICOSLG	-	NULL	ENSG00000160223		0.446	ICOSLG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ICOSLG	HGNC	protein_coding	OTTHUMT00000195838.1	57	0.00	0	-	NM_015259		45651325	45651326	-1	no_errors	ENST00000344330	ensembl	human	known	69_37n	frame_shift_ins	11	42.11	8	INS	0.000:0.001	GC
KCTD19	146212	genome.wustl.edu	37	16	67325657	67325658	+	Frame_Shift_Ins	INS	-	-	G	rs201413788		TCGA-A8-A091-01A-11W-A019-09	TCGA-A8-A091-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6618f367-c782-43a0-b5c8-a53d9bda6722	9732d7d3-7a55-4eba-9a18-76e59ca082a6	g.chr16:67325657_67325658insG	ENST00000304372.5	-	13	2356_2357	c.2301_2302insC	c.(2299-2304)cccgtgfs	p.V768fs		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	768					protein homooligomerization (GO:0051260)					endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CTGCCCACCACGGGGGGGTGAG	0.574																																						dbGAP											0										13,3719		0,13,1853						4.5	1.0			57	14,7888		0,14,3937	no	frameshift	KCTD19	NM_001100915.1		0,27,5790	A1A1,A1R,RR		0.1772,0.3483,0.2321				27,11607				-	-	-	SO:0001589	frameshift_variant	0			AK097481	CCDS42179.1	16q22.1	2013-06-20	2013-06-20			ENSG00000168676			24753	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 19"""				Standard	NM_001100915		Approved	FLJ40162	uc002esu.2	Q17RG1		ENST00000304372.5:c.2302dupC	16.37:g.67325664_67325664dupG	ENSP00000305702:p.Val768fs		B4DZ49|Q8N804	Frame_Shift_Ins	INS	pfam_T1-type_BTB,superfamily_BTB/POZ_fold	p.V767fs	ENST00000304372.5	37	c.2302_2301	CCDS42179.1	16																																																																																			KCTD19	-	NULL	ENSG00000168676		0.574	KCTD19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCTD19	HGNC	protein_coding	OTTHUMT00000422061.1	48	0.00	0	-	XM_085367		67325657	67325658	-1	no_errors	ENST00000304372	ensembl	human	known	69_37n	frame_shift_ins	16	23.81	5	INS	0.956:0.051	G
NCOR2	9612	genome.wustl.edu	37	12	124882708	124882709	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A091-01A-11W-A019-09	TCGA-A8-A091-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6618f367-c782-43a0-b5c8-a53d9bda6722	9732d7d3-7a55-4eba-9a18-76e59ca082a6	g.chr12:124882708_124882709insT	ENST00000405201.1	-	16	1832_1833	c.1832_1833insA	c.(1831-1833)gagfs	p.E611fs	NCOR2_ENST00000429285.2_Frame_Shift_Ins_p.E610fs|NCOR2_ENST00000356219.3_Frame_Shift_Ins_p.E611fs|NCOR2_ENST00000404121.2_Frame_Shift_Ins_p.E181fs|NCOR2_ENST00000404621.1_Frame_Shift_Ins_p.E610fs|NCOR2_ENST00000397355.1_Frame_Shift_Ins_p.E611fs			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	611	SANT 2. {ECO:0000255|PROSITE- ProRule:PRU00624}.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		AGCGAGAACTCTCATTCAGCTC	0.535																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.1833dupA	12.37:g.124882709_124882709dupT	ENSP00000384018:p.Glu611fs		O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Frame_Shift_Ins	INS	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.S612fs	ENST00000405201.1	37	c.1833_1832	CCDS41858.2	12																																																																																			NCOR2	-	superfamily_Homeodomain-like,smart_SANT/Myb	ENSG00000196498		0.535	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2	71	0.00	0	-	NM_006312		124882708	124882709	-1	no_errors	ENST00000356219	ensembl	human	known	69_37n	frame_shift_ins	26	25.71	9	INS	1.000:1.000	T
PALM	5064	genome.wustl.edu	37	19	734186	734186	+	Frame_Shift_Del	DEL	C	C	-			TCGA-A8-A091-01A-11W-A019-09	TCGA-A8-A091-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6618f367-c782-43a0-b5c8-a53d9bda6722	9732d7d3-7a55-4eba-9a18-76e59ca082a6	g.chr19:734186delC	ENST00000338448.5	+	6	480	c.434delC	c.(433-435)acgfs	p.T145fs	PALM_ENST00000264560.7_Frame_Shift_Del_p.T145fs|PALM_ENST00000593172.1_3'UTR	NM_002579.2	NP_002570.2	O75781	PALM_HUMAN	paralemmin	145					cellular component movement (GO:0006928)|cellular response to electrical stimulus (GO:0071257)|cytoskeleton organization (GO:0007010)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of dopamine receptor signaling pathway (GO:0060160)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of filopodium assembly (GO:0051491)|protein targeting to plasma membrane (GO:0072661)|regulation of cell shape (GO:0008360)|synapse maturation (GO:0060074)	apicolateral plasma membrane (GO:0016327)|axon (GO:0030424)|basolateral plasma membrane (GO:0016323)|cytoplasmic membrane-bounded vesicle (GO:0016023)|dendrite membrane (GO:0032590)|dendritic spine membrane (GO:0032591)|filopodium membrane (GO:0031527)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)|Lung(535;0.201)		CCGGTGGGCACGCCCAAAGGT	0.647																																						dbGAP											0													64.0	64.0	64.0					19																	734186		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			Y16270	CCDS32857.1, CCDS32858.1	19p13.3	2008-07-17				ENSG00000099864			8594	protein-coding gene	gene with protein product		608134				9615234, 9813098	Standard	XM_005259565		Approved	KIAA0270	uc002lpm.1	O75781		ENST00000338448.5:c.434delC	19.37:g.734186delC	ENSP00000341911:p.Thr145fs		O43359|O95673|Q92559|Q9UPJ4|Q9UQS2|Q9UQS3	Frame_Shift_Del	DEL	pfam_Paralemmin	p.T145fs	ENST00000338448.5	37	c.434	CCDS32857.1	19																																																																																			PALM	-	pfam_Paralemmin	ENSG00000099864		0.647	PALM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PALM	HGNC	protein_coding	OTTHUMT00000457592.1	11	0.00	0	C	NM_002579		734186	734186	+1	no_errors	ENST00000338448	ensembl	human	known	69_37n	frame_shift_del	3	57.14	4	DEL	0.982	-
PLCE1	51196	genome.wustl.edu	37	10	95791949	95791949	+	Silent	SNP	G	G	A			TCGA-A8-A091-01A-11W-A019-09	TCGA-A8-A091-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6618f367-c782-43a0-b5c8-a53d9bda6722	9732d7d3-7a55-4eba-9a18-76e59ca082a6	g.chr10:95791949G>A	ENST00000371380.3	+	1	1381	c.1146G>A	c.(1144-1146)ccG>ccA	p.P382P	PLCE1_ENST00000260766.3_Silent_p.P382P			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	382					activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGGAACCCCCGTCAACAGTGG	0.468																																						dbGAP											0			GRCh37	CD066390	PLCE1	D							87.0	87.0	87.0					10																	95791949		1911	4131	6042	-	-	-	SO:0001819	synonymous_variant	0				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.1146G>A	10.37:g.95791949G>A			A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.P382	ENST00000371380.3	37	c.1146	CCDS41552.1	10																																																																																			PLCE1	-	superfamily_Ras_GEF_dom	ENSG00000138193		0.468	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	231	0.00	0	G	NM_016341		95791949	95791949	+1	no_errors	ENST00000371380	ensembl	human	known	69_37n	silent	168	22.83	50	SNP	0.000	A
PLEKHH1	57475	genome.wustl.edu	37	14	68028888	68028889	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A091-01A-11W-A019-09	TCGA-A8-A091-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6618f367-c782-43a0-b5c8-a53d9bda6722	9732d7d3-7a55-4eba-9a18-76e59ca082a6	g.chr14:68028888_68028889insC	ENST00000329153.5	+	7	672_673	c.540_541insC	c.(541-543)cccfs	p.P181fs		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	181						cytoskeleton (GO:0005856)				endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		AGCTGCTGGTGCCCCCCTACGG	0.584																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB033026	CCDS45128.1	14q24.1	2013-01-10				ENSG00000054690		"""Pleckstrin homology (PH) domain containing"""	17733	protein-coding gene	gene with protein product						10574462	Standard	NM_020715		Approved	KIAA1200	uc001xjl.1	Q9ULM0		ENST00000329153.5:c.546dupC	14.37:g.68028894_68028894dupC	ENSP00000330278:p.Pro181fs		A6H8X6|Q6PJL4|Q6ZWC7	Frame_Shift_Ins	INS	pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology	p.Y182fs	ENST00000329153.5	37	c.540_541	CCDS45128.1	14																																																																																			PLEKHH1	-	NULL	ENSG00000054690		0.584	PLEKHH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHH1	HGNC	protein_coding	OTTHUMT00000412730.3	40	0.00	0	-	XM_031054		68028888	68028889	+1	no_errors	ENST00000329153	ensembl	human	known	69_37n	frame_shift_ins	33	10.81	4	INS	0.351:0.020	C
PLXNB1	5364	genome.wustl.edu	37	3	48454157	48454157	+	Silent	SNP	G	G	A			TCGA-A8-A091-01A-11W-A019-09	TCGA-A8-A091-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6618f367-c782-43a0-b5c8-a53d9bda6722	9732d7d3-7a55-4eba-9a18-76e59ca082a6	g.chr3:48454157G>A	ENST00000358536.4	-	25	5117	c.4848C>T	c.(4846-4848)ctC>ctT	p.L1616L	PLXNB1_ENST00000465117.1_5'Flank|PLXNB1_ENST00000358459.4_Silent_p.L1433L|PLXNB1_ENST00000448774.2_Silent_p.L227L|PLXNB1_ENST00000456774.1_Silent_p.L1433L|PLXNB1_ENST00000296440.6_Silent_p.L1616L	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1616					axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTACCTTGGTGAGGAAGAGCT	0.652																																						dbGAP											0													35.0	40.0	38.0					3																	48454157		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.4848C>T	3.37:g.48454157G>A			A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.L1616	ENST00000358536.4	37	c.4848	CCDS2765.1	3																																																																																			PLXNB1	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot	ENSG00000164050		0.652	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PLXNB1	HGNC	protein_coding	OTTHUMT00000344454.1	20	0.00	0	G	NM_002673		48454157	48454157	-1	no_errors	ENST00000296440	ensembl	human	known	69_37n	silent	2	66.67	4	SNP	1.000	A
PPFIA1	8500	genome.wustl.edu	37	11	70189979	70189979	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A091-01A-11W-A019-09	TCGA-A8-A091-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6618f367-c782-43a0-b5c8-a53d9bda6722	9732d7d3-7a55-4eba-9a18-76e59ca082a6	g.chr11:70189979G>A	ENST00000253925.7	+	15	2127	c.1912G>A	c.(1912-1914)Gcc>Acc	p.A638T	PPFIA1_ENST00000389547.3_Missense_Mutation_p.A638T|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	638					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			GCAGCTGGACGCCATCAACAA	0.557																																						dbGAP											0													67.0	47.0	54.0					11																	70189979		2200	4294	6494	-	-	-	SO:0001583	missense	0			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.1912G>A	11.37:g.70189979G>A	ENSP00000253925:p.Ala638Thr		A6NLE3|Q13135|Q14567|Q8N4I2	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.A638T	ENST00000253925.7	37	c.1912	CCDS31627.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.507891	0.96386	.	.	ENSG00000131626	ENST00000253925;ENST00000389547;ENST00000544950	T;T	0.39787	1.06;1.06	5.4	5.4	0.78164	.	0.000000	0.85682	D	0.000000	T	0.69602	0.3129	M	0.85945	2.785	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.70716	0.935;0.97	T	0.74976	-0.3480	10	0.87932	D	0	.	19.1893	0.93658	0.0:0.0:1.0:0.0	.	638;638	Q13136;Q13136-2	LIPA1_HUMAN;.	T	638;638;125	ENSP00000253925:A638T;ENSP00000374198:A638T	ENSP00000253925:A638T	A	+	1	0	PPFIA1	69867627	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.577000	0.98196	2.541000	0.85698	0.561000	0.74099	GCC	PPFIA1	-	NULL	ENSG00000131626		0.557	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPFIA1	HGNC	protein_coding	OTTHUMT00000393905.1	28	0.00	0	G	NM_003626		70189979	70189979	+1	no_errors	ENST00000253925	ensembl	human	known	69_37n	missense	13	48.00	12	SNP	1.000	A
PRKCB	5579	genome.wustl.edu	37	16	24202462	24202462	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A091-01A-11W-A019-09	TCGA-A8-A091-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6618f367-c782-43a0-b5c8-a53d9bda6722	9732d7d3-7a55-4eba-9a18-76e59ca082a6	g.chr16:24202462C>T	ENST00000321728.7	+	16	1949	c.1774C>T	c.(1774-1776)Cgt>Tgt	p.R592C	PRKCB_ENST00000303531.7_Missense_Mutation_p.R592C	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	592	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	TGAAGGCGAACGTGATATCAA	0.443																																						dbGAP											0													108.0	106.0	107.0					16																	24202462		2197	4300	6497	-	-	-	SO:0001583	missense	0			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1774C>T	16.37:g.24202462C>T	ENSP00000318315:p.Arg592Cys		C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_Ca-dep,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.R592C	ENST00000321728.7	37	c.1774	CCDS10618.1	16	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683415	0.88542	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.53640	0.61;0.61	5.79	5.79	0.91817	Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.57504	0.2058	L	0.31804	0.96	0.80722	D	1	D;D	0.76494	0.999;0.999	P;D	0.63957	0.819;0.92	T	0.58526	-0.7621	10	0.62326	D	0.03	.	18.5987	0.91239	0.0:1.0:0.0:0.0	.	592;592	P05771-2;P05771	.;KPCB_HUMAN	C	592	ENSP00000318315:R592C;ENSP00000305355:R592C	ENSP00000305355:R592C	R	+	1	0	PRKCB	24109963	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.213000	0.51153	2.744000	0.94065	0.650000	0.86243	CGT	PRKCB	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pirsf_Protein_kinase_C_a/b/g,pfscan_Prot_kinase_cat_dom	ENSG00000166501		0.443	PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCB	HGNC	protein_coding	OTTHUMT00000254504.2	201	0.00	0	C	NM_212535		24202462	24202462	+1	no_errors	ENST00000303531	ensembl	human	known	69_37n	missense	218	26.85	80	SNP	1.000	T
PSRC1	84722	genome.wustl.edu	37	1	109823046	109823047	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A091-01A-11W-A019-09	TCGA-A8-A091-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6618f367-c782-43a0-b5c8-a53d9bda6722	9732d7d3-7a55-4eba-9a18-76e59ca082a6	g.chr1:109823046_109823047insG	ENST00000438534.2	-	6	1197_1198	c.1059_1060insC	c.(1057-1062)cccaggfs	p.R354fs	PSRC1_ENST00000369909.2_Frame_Shift_Ins_p.R324fs|PSRC1_ENST00000409138.2_Frame_Shift_Ins_p.R354fs|PSRC1_ENST00000369907.3_Frame_Shift_Ins_p.R324fs|PSRC1_ENST00000369904.3_Frame_Shift_Ins_p.Q290fs|PSRC1_ENST00000409267.1_Frame_Shift_Ins_p.R324fs|PSRC1_ENST00000369903.2_Frame_Shift_Ins_p.R324fs	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	354	Pro/Ser-rich.				microtubule bundle formation (GO:0001578)|mitotic metaphase plate congression (GO:0007080)|negative regulation of cell growth (GO:0030308)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of mitotic spindle organization (GO:0060236)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)	microtubule binding (GO:0008017)			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		GCCACTTTCCTGGGGGGCTGCA	0.545																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS797.1, CCDS30791.1	1p13.3	2008-02-05			ENSG00000134222	ENSG00000134222			24472	protein-coding gene	gene with protein product	"""differential display and activated by p53"""	613126				12427559, 10618717	Standard	NM_001032291		Approved	DDA3	uc001dxd.3	Q6PGN9	OTTHUMG00000012000	ENST00000438534.2:c.1060dupC	1.37:g.109823052_109823052dupG	ENSP00000413591:p.Arg354fs		Q5T2Z3|Q6ZTI8|Q71MG3|Q9BV77	Frame_Shift_Ins	INS	NULL	p.R353fs	ENST00000438534.2	37	c.1060_1059		1																																																																																			PSRC1	-	NULL	ENSG00000134222		0.545	PSRC1-202	KNOWN	basic	protein_coding	PSRC1	HGNC	protein_coding	OTTHUMT00000335567.3	24	0.00	0	-	NM_032636		109823046	109823047	-1	no_errors	ENST00000438534	ensembl	human	known	69_37n	frame_shift_ins	15	11.76	2	INS	0.999:1.000	G
PTPRZ1	5803	genome.wustl.edu	37	7	121651597	121651597	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A091-01A-11W-A019-09	TCGA-A8-A091-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6618f367-c782-43a0-b5c8-a53d9bda6722	9732d7d3-7a55-4eba-9a18-76e59ca082a6	g.chr7:121651597C>T	ENST00000393386.2	+	12	2908	c.2497C>T	c.(2497-2499)Cgc>Tgc	p.R833C	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	833					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGAATTGTTTCGCCATCTGCA	0.468																																						dbGAP											0													194.0	165.0	175.0					7																	121651597		2203	4300	6503	-	-	-	SO:0001583	missense	0			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.2497C>T	7.37:g.121651597C>T	ENSP00000377047:p.Arg833Cys		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a	p.R833C	ENST00000393386.2	37	c.2497	CCDS34740.1	7	.	.	.	.	.	.	.	.	.	.	C	18.60	3.658062	0.67586	.	.	ENSG00000106278	ENST00000393386	T	0.47528	0.84	5.86	5.86	0.93980	.	0.623886	0.15868	N	0.240700	T	0.47655	0.1457	L	0.40543	1.245	0.80722	D	1	D	0.62365	0.991	B	0.43623	0.425	T	0.53344	-0.8452	10	0.87932	D	0	.	20.1802	0.98196	0.0:1.0:0.0:0.0	.	833	P23471	PTPRZ_HUMAN	C	833	ENSP00000377047:R833C	ENSP00000377047:R833C	R	+	1	0	PTPRZ1	121438833	0.994000	0.37717	0.995000	0.50966	0.985000	0.73830	3.009000	0.49552	2.774000	0.95407	0.650000	0.86243	CGC	PTPRZ1	-	NULL	ENSG00000106278		0.468	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	HGNC	protein_coding	OTTHUMT00000347288.1	368	0.00	0	C	NM_002851		121651597	121651597	+1	no_errors	ENST00000393386	ensembl	human	known	69_37n	missense	244	40.20	164	SNP	1.000	T
TRMT112	51504	genome.wustl.edu	37	11	64084586	64084586	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A091-01A-11W-A019-09	TCGA-A8-A091-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6618f367-c782-43a0-b5c8-a53d9bda6722	9732d7d3-7a55-4eba-9a18-76e59ca082a6	g.chr11:64084586C>T	ENST00000544844.1	-	3	771	c.214G>A	c.(214-216)Gag>Aag	p.E72K	TRMT112_ENST00000539854.1_Missense_Mutation_p.E72K|PRDX5_ENST00000265462.4_5'Flank|PRDX5_ENST00000352435.4_5'Flank|TRMT112_ENST00000535750.1_Missense_Mutation_p.E28K|PRDX5_ENST00000347941.4_5'Flank|TRMT112_ENST00000535126.1_3'UTR|TRMT112_ENST00000308774.2_Missense_Mutation_p.E67K			Q9UI30	TR112_HUMAN	tRNA methyltransferase 11-2 homolog (S. cerevisiae)	72	TRM112.				peptidyl-glutamine methylation (GO:0018364)	extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	protein methyltransferase activity (GO:0008276)			large_intestine(1)|upper_aerodigestive_tract(1)	2						TCATATCCCTCAACCGGCCCT	0.612																																						dbGAP											0													66.0	61.0	63.0					11																	64084586		2201	4297	6498	-	-	-	SO:0001583	missense	0			AF110774	CCDS8068.1, CCDS66113.1, CCDS73312.1	11q13.1	2013-07-23			ENSG00000173113	ENSG00000173113			26940	protein-coding gene	gene with protein product						11042152	Standard	NM_001286082		Approved	HSPC152, HSPC170, TRM112, TRMT11-2	uc001nzt.3	Q9UI30	OTTHUMG00000167848	ENST00000544844.1:c.214G>A	11.37:g.64084586C>T	ENSP00000438349:p.Glu72Lys		B2R539|J3KNG5|Q3MHC7|Q8N2Z4	Missense_Mutation	SNP	pfam_UPF0434/Trm112	p.E72K	ENST00000544844.1	37	c.214	CCDS8068.1	11	.	.	.	.	.	.	.	.	.	.	C	11.64	1.698222	0.30142	.	.	ENSG00000173113	ENST00000535750;ENST00000544844;ENST00000308774;ENST00000539854	.	.	.	4.46	-1.14	0.09741	.	0.612730	0.15940	N	0.237258	T	0.50565	0.1623	M	0.76170	2.325	0.22389	N	0.99915	B	0.12630	0.006	B	0.22152	0.038	T	0.51301	-0.8723	9	0.49607	T	0.09	.	11.576	0.50862	0.0:0.3812:0.5382:0.0806	.	72	Q9UI30	TR112_HUMAN	K	28;72;67;72	.	ENSP00000309433:E67K	E	-	1	0	TRMT112	63841162	0.001000	0.12720	0.001000	0.08648	0.003000	0.03518	-0.094000	0.11094	-0.286000	0.09076	-0.951000	0.02657	GAG	TRMT112	-	pfam_UPF0434/Trm112	ENSG00000173113		0.612	TRMT112-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRMT112	HGNC	protein_coding	OTTHUMT00000396598.2	57	0.00	0	C	NM_016404		64084586	64084586	-1	no_errors	ENST00000544844	ensembl	human	known	69_37n	missense	28	36.36	16	SNP	0.045	T
SLC22A12	116085	genome.wustl.edu	37	11	64368333	64368333	+	Silent	SNP	G	G	C			TCGA-A8-A091-01A-11W-A019-09	TCGA-A8-A091-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6618f367-c782-43a0-b5c8-a53d9bda6722	9732d7d3-7a55-4eba-9a18-76e59ca082a6	g.chr11:64368333G>C	ENST00000377574.1	+	9	2268	c.1521G>C	c.(1519-1521)ctG>ctC	p.L507L	SLC22A12_ENST00000377567.2_Silent_p.L399L|SLC22A12_ENST00000336464.7_Silent_p.L473L|SLC22A12_ENST00000473690.1_Silent_p.L286L|SLC22A12_ENST00000377572.1_Silent_p.L399L	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	507					cellular homeostasis (GO:0019725)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)|urate transport (GO:0015747)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	PDZ domain binding (GO:0030165)|urate transmembrane transporter activity (GO:0015143)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27					Losartan(DB00678)|Probenecid(DB01032)	TGCCAGTGCTGAGTGGCCTGG	0.672																																						dbGAP											0													89.0	91.0	90.0					11																	64368333		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			AB071863	CCDS8075.1, CCDS60835.1, CCDS60836.1	11q13.1	2013-05-22	2008-01-11		ENSG00000197891	ENSG00000197891		"""Solute carriers"""	17989	protein-coding gene	gene with protein product		607096	"""solute carrier family 22 (organic anion/cation transporter), member 12"""			12024214	Standard	NM_144585		Approved	OAT4L, RST, URAT1	uc009yps.2	Q96S37	OTTHUMG00000045213	ENST00000377574.1:c.1521G>C	11.37:g.64368333G>C			B7WPG1|G3XAN7|Q19PF7|Q19PF8|Q19PF9|Q19PG0|Q6UXW3|Q96DT2	Silent	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L507	ENST00000377574.1	37	c.1521	CCDS8075.1	11																																																																																			SLC22A12	-	superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000197891		0.672	SLC22A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A12	HGNC	protein_coding	OTTHUMT00000104966.2	38	0.00	0	G	NM_144585		64368333	64368333	+1	no_errors	ENST00000377574	ensembl	human	known	69_37n	silent	10	37.50	6	SNP	0.180	C
ZMYND15	84225	genome.wustl.edu	37	17	4645075	4645075	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A091-01A-11W-A019-09	TCGA-A8-A091-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6618f367-c782-43a0-b5c8-a53d9bda6722	9732d7d3-7a55-4eba-9a18-76e59ca082a6	g.chr17:4645075C>A	ENST00000433935.1	+	3	848	c.791C>A	c.(790-792)cCc>cAc	p.P264H	ZMYND15_ENST00000592813.1_Missense_Mutation_p.P264H|CXCL16_ENST00000574412.1_5'Flank|ZMYND15_ENST00000573751.2_Missense_Mutation_p.P264H|CXCL16_ENST00000293778.6_5'Flank|ZMYND15_ENST00000269289.6_Missense_Mutation_p.P264H	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	264					negative regulation of transcription, DNA-templated (GO:0045892)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						CCCCGAAAGCCCCGACAGCTT	0.622																																						dbGAP											0													45.0	49.0	48.0					17																	4645075		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL136893	CCDS11053.1, CCDS45584.1, CCDS58506.1	17p13.3	2008-05-02			ENSG00000141497	ENSG00000141497		"""Zinc fingers, MYND-type"""	20997	protein-coding gene	gene with protein product		614312				11230166	Standard	NM_001136046		Approved	DKFZp434N127	uc002fyu.3	Q9H091	OTTHUMG00000090760	ENST00000433935.1:c.791C>A	17.37:g.4645075C>A	ENSP00000391742:p.Pro264His		B4DXY5|I3L296	Missense_Mutation	SNP	pfam_Znf_MYND,pfscan_Znf_MYND	p.P264H	ENST00000433935.1	37	c.791	CCDS45584.1	17	.	.	.	.	.	.	.	.	.	.	C	18.80	3.701803	0.68501	.	.	ENSG00000141497	ENST00000433935;ENST00000269289	T;T	0.68903	-0.19;-0.36	5.42	5.42	0.78866	.	0.000000	0.64402	D	0.000011	T	0.74756	0.3758	L	0.32530	0.975	0.40982	D	0.984782	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.996	T	0.77281	-0.2646	10	0.87932	D	0	-20.2361	16.7621	0.85515	0.0:1.0:0.0:0.0	.	264;264	B4DXY5;Q9H091	.;ZMY15_HUMAN	H	264	ENSP00000391742:P264H;ENSP00000269289:P264H	ENSP00000269289:P264H	P	+	2	0	ZMYND15	4591824	1.000000	0.71417	1.000000	0.80357	0.813000	0.45954	2.872000	0.48467	2.826000	0.97356	0.563000	0.77884	CCC	ZMYND15	-	NULL	ENSG00000141497		0.622	ZMYND15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYND15	HGNC	protein_coding	OTTHUMT00000439580.1	121	0.00	0	C	NM_032265		4645075	4645075	+1	no_errors	ENST00000433935	ensembl	human	known	69_37n	missense	23	32.35	11	SNP	1.000	A
