#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
CDHR1	92211	genome.wustl.edu	37	10	85965678	85965678	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1EW-01A-11D-A135-09	TCGA-BH-A1EW-11B-33D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c6f4b1b6-a8dd-4a9a-a500-b14a738fe18f	f82dbed7-9803-4143-8b84-e8beb908c205	g.chr10:85965678G>A	ENST00000372117.3	+	10	1061	c.958G>A	c.(958-960)Gta>Ata	p.V320I	CDHR1_ENST00000332904.3_Missense_Mutation_p.V320I|CDHR1_ENST00000440770.2_Missense_Mutation_p.V79I	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	320	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TGAGCTGCATGTACAGGTACC	0.542											OREG0020333	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													87.0	80.0	83.0					10																	85965678		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.958G>A	10.37:g.85965678G>A	ENSP00000361189:p.Val320Ile	1240	Q69YZ8|Q8IXY5	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V320I	ENST00000372117.3	37	c.958	CCDS7372.1	10	.	.	.	.	.	.	.	.	.	.	G	14.70	2.612949	0.46631	.	.	ENSG00000148600	ENST00000332904;ENST00000372117;ENST00000440770	T;T;T	0.64803	-0.12;-0.12;0.8	5.2	3.26	0.37387	Cadherin (4);Cadherin-like (1);	0.116753	0.64402	N	0.000020	T	0.49795	0.1578	L	0.53561	1.675	0.47276	D	0.999373	B;B;B	0.30406	0.006;0.278;0.039	B;B;B	0.31191	0.012;0.125;0.094	T	0.28267	-1.0049	10	0.12103	T	0.63	-24.0006	6.7761	0.23621	0.3204:0.0:0.6796:0.0	.	79;320;320	E7EN47;Q96JP9-2;Q96JP9	.;.;CDHR1_HUMAN	I	320;320;79	ENSP00000331063:V320I;ENSP00000361189:V320I;ENSP00000415980:V79I	ENSP00000331063:V320I	V	+	1	0	CDHR1	85955658	0.984000	0.35163	0.841000	0.33234	0.944000	0.59088	1.929000	0.40114	0.647000	0.30713	-0.339000	0.08088	GTA	CDHR1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000148600		0.542	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR1	HGNC	protein_coding	OTTHUMT00000049111.1	208	0.95	2	G	NM_033100		85965678	85965678	+1	no_errors	ENST00000372117	ensembl	human	known	69_37n	missense	162	12.43	23	SNP	0.956	A
CNGA2	1260	genome.wustl.edu	37	X	150911669	150911669	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1EW-01A-11D-A135-09	TCGA-BH-A1EW-11B-33D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c6f4b1b6-a8dd-4a9a-a500-b14a738fe18f	f82dbed7-9803-4143-8b84-e8beb908c205	g.chrX:150911669G>A	ENST00000329903.4	+	6	727	c.694G>A	c.(694-696)Gac>Aac	p.D232N		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	232					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CATCCCCACTGACCTGATCTA	0.542																																						dbGAP											0													144.0	104.0	118.0					X																	150911669		2203	4300	6503	-	-	-	SO:0001583	missense	0			S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.694G>A	X.37:g.150911669G>A	ENSP00000328478:p.Asp232Asn		A0AVD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.D232N	ENST00000329903.4	37	c.694	CCDS14701.1	X	.	.	.	.	.	.	.	.	.	.	G	17.82	3.483225	0.63962	.	.	ENSG00000183862	ENST00000329903	D	0.98531	-4.98	5.49	4.63	0.57726	Ion transport (1);	0.104536	0.64402	D	0.000004	D	0.99146	0.9705	H	0.96269	3.795	0.58432	D	0.999993	D	0.76494	0.999	D	0.66847	0.947	D	0.98965	1.0799	10	0.87932	D	0	.	11.1164	0.48262	0.0918:0.0:0.9082:0.0	.	232	Q16280	CNGA2_HUMAN	N	232	ENSP00000328478:D232N	ENSP00000328478:D232N	D	+	1	0	CNGA2	150662325	1.000000	0.71417	0.899000	0.35326	0.831000	0.47069	9.476000	0.97823	1.087000	0.41251	-0.192000	0.12808	GAC	CNGA2	-	pfam_Ion_trans_dom	ENSG00000183862		0.542	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGA2	HGNC	protein_coding	OTTHUMT00000060888.1	200	0.50	1	G	NM_005140		150911669	150911669	+1	no_errors	ENST00000329903	ensembl	human	known	69_37n	missense	155	14.75	27	SNP	0.997	A
FASN	2194	genome.wustl.edu	37	17	80042925	80042925	+	Silent	SNP	G	G	A	rs536968254		TCGA-BH-A1EW-01A-11D-A135-09	TCGA-BH-A1EW-11B-33D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c6f4b1b6-a8dd-4a9a-a500-b14a738fe18f	f82dbed7-9803-4143-8b84-e8beb908c205	g.chr17:80042925G>A	ENST00000306749.2	-	25	4613	c.4395C>T	c.(4393-4395)ggC>ggT	p.G1465G	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1465					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	GGCGGTTCCCGCCGGGCTCTC	0.687													.|||	1	0.000199681	0.0	0.0	5008	,	,		11095	0.0		0.0	False		,,,				2504	0.001				Colon(59;314 1043 11189 28578 32273)	dbGAP											0													14.0	15.0	15.0					17																	80042925		2180	4271	6451	-	-	-	SO:0001819	synonymous_variant	0			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.4395C>T	17.37:g.80042925G>A			Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.G1465	ENST00000306749.2	37	c.4395	CCDS11801.1	17																																																																																			FASN	-	NULL	ENSG00000169710		0.687	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	11	0.00	0	G	NM_004104		80042925	80042925	-1	no_errors	ENST00000306749	ensembl	human	known	69_37n	silent	6	50.00	6	SNP	0.131	A
FBXO44	93611	genome.wustl.edu	37	1	11718651	11718651	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1EW-01A-11D-A135-09	TCGA-BH-A1EW-11B-33D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c6f4b1b6-a8dd-4a9a-a500-b14a738fe18f	f82dbed7-9803-4143-8b84-e8beb908c205	g.chr1:11718651G>A	ENST00000251547.5	+	4	536	c.454G>A	c.(454-456)Gat>Aat	p.D152N	FBXO44_ENST00000376768.1_Missense_Mutation_p.G142E|FBXO44_ENST00000376762.4_Intron|FBXO44_ENST00000251546.4_Intron|FBXO44_ENST00000376770.1_Missense_Mutation_p.D152N|FBXO44_ENST00000376760.1_Intron	NM_033182.5	NP_149438.2	Q9H4M3	FBX44_HUMAN	F-box protein 44	152	FBA. {ECO:0000255|PROSITE- ProRule:PRU00482}.					SCF ubiquitin ligase complex (GO:0019005)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGCTGATGGATACCACACG	0.687																																						dbGAP											0													44.0	48.0	47.0					1																	11718651		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY040878	CCDS131.1, CCDS132.1	1p36.21	2008-03-26			ENSG00000132879	ENSG00000132879		"""F-boxes /  ""other"""""	24847	protein-coding gene	gene with protein product		609111				12383498	Standard	XM_005263535		Approved	FBX30, FBG3, MGC14140, Fbxo6a, Fbx44	uc001asm.3	Q9H4M3	OTTHUMG00000002071	ENST00000251547.5:c.454G>A	1.37:g.11718651G>A	ENSP00000251547:p.Asp152Asn		B3KNZ2|B7Z743|Q5TGX2|Q5TGX4|Q5TGX5|Q68DJ9|Q8WWY2	Missense_Mutation	SNP	pfam_F-box-assoc_dom,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,superfamily_Galactose-bd-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like,pfscan_F-box-assoc_dom	p.G142E	ENST00000251547.5	37	c.425	CCDS132.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.282369|4.282369	0.80692|0.80692	.|.	.|.	ENSG00000132879|ENSG00000132879	ENST00000376770;ENST00000251547|ENST00000376768	T;T|T	0.59772|0.45276	0.24;0.24|0.9	5.37|5.37	5.37|5.37	0.77165|0.77165	Galactose-binding domain-like (1);F-box associated (FBA) domain (2);|.	.|0.969120	.|0.08450	.|N	.|0.943981	T|T	0.70500|0.70500	0.3231|0.3231	H|H	0.95574|0.95574	3.69|3.69	0.46981|0.46981	D|D	0.999275|0.999275	D|D	0.89917|0.59767	1.0|0.986	D|P	0.91635|0.51918	0.999|0.684	T|T	0.75728|0.75728	-0.3216|-0.3216	9|10	0.62326|0.87932	D|D	0.03|0	.|.	16.2641|16.2641	0.82565|0.82565	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	152|142	Q9H4M3|B7Z1P2	FBX44_HUMAN|.	N|E	152|142	ENSP00000365961:D152N;ENSP00000251547:D152N|ENSP00000365959:G142E	ENSP00000251547:D152N|ENSP00000365959:G142E	D|G	+|+	1|2	0|0	FBXO44|FBXO44	11641238|11641238	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.585000|7.585000	0.82584|0.82584	2.520000|2.520000	0.84964|0.84964	0.549000|0.549000	0.68633|0.68633	GAT|GGA	FBXO44	-	NULL	ENSG00000132879		0.687	FBXO44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO44	HGNC	protein_coding	OTTHUMT00000005761.1	107	0.93	1	G	NM_183412		11718651	11718651	+1	no_errors	ENST00000376768	ensembl	human	known	69_37n	missense	82	16.16	16	SNP	1.000	A
GOLGA6L2	283685	genome.wustl.edu	37	15	23685300	23685301	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-BH-A1EW-01A-11D-A135-09	TCGA-BH-A1EW-11B-33D-A135-09	TT	TT					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c6f4b1b6-a8dd-4a9a-a500-b14a738fe18f	f82dbed7-9803-4143-8b84-e8beb908c205	g.chr15:23685300_23685301delTT	ENST00000567107.1	-	8	2373_2374	c.2321_2322delAA	c.(2320-2322)gaafs	p.E774fs	GOLGA6L2_ENST00000312015.5_Intron|GOLGA6L2_ENST00000345070.5_Intron			Q8N9W4	GG6L2_HUMAN	golgin A6 family-like 2	0										breast(1)|endometrium(7)	8						ctcctgcatcttctcttgctgc	0.564																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK093463		15q11.2	2012-10-05	2010-02-12		ENSG00000174450	ENSG00000174450			26695	protein-coding gene	gene with protein product	"""cancer/testis antigen 105"""		"""golgi autoantigen, golgin subfamily a, 6-like 2"""				Standard	XM_002343322		Approved	CT105, FLJ36144	uc021sfy.1	Q8N9W4	OTTHUMG00000176417	ENST00000567107.1:c.2321_2322delAA	15.37:g.23685300_23685301delTT	ENSP00000454407:p.Glu774fs		A1L301	Frame_Shift_Del	DEL	NULL	p.E774fs	ENST00000567107.1	37	c.2322_2321		15																																																																																			GOLGA6L2	-	NULL	ENSG00000174450		0.564	GOLGA6L2-002	PUTATIVE	basic|appris_candidate_longest	protein_coding	GOLGA6L2	HGNC	protein_coding	OTTHUMT00000431937.1	12	0.00	0	TT	NM_182561		23685300	23685301	-1	no_errors	ENST00000567107	ensembl	human	putative	69_37n	frame_shift_del	7	36.36	4	DEL	0.104:0.092	-
GUCY2C	2984	genome.wustl.edu	37	12	14835986	14835986	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1EW-01A-11D-A135-09	TCGA-BH-A1EW-11B-33D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c6f4b1b6-a8dd-4a9a-a500-b14a738fe18f	f82dbed7-9803-4143-8b84-e8beb908c205	g.chr12:14835986C>T	ENST00000261170.3	-	4	737	c.601G>A	c.(601-603)Gac>Aac	p.D201N	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	201					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	CAGAAACAGTCCTCAGTTTCT	0.418																																						dbGAP											0													64.0	61.0	62.0					12																	14835986		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.601G>A	12.37:g.14835986C>T	ENSP00000261170:p.Asp201Asn		B2RMY6	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.D201N	ENST00000261170.3	37	c.601	CCDS8664.1	12	.	.	.	.	.	.	.	.	.	.	C	16.13	3.036754	0.54896	.	.	ENSG00000070019	ENST00000261170	T	0.74106	-0.81	5.16	4.24	0.50183	Extracellular ligand-binding receptor (1);	0.287715	0.38111	N	0.001817	T	0.77837	0.4190	M	0.66939	2.045	0.40035	D	0.975574	D	0.53745	0.962	P	0.53146	0.719	T	0.75797	-0.3191	10	0.23891	T	0.37	.	11.8209	0.52238	0.0:0.8231:0.1769:0.0	.	201	P25092	GUC2C_HUMAN	N	201	ENSP00000261170:D201N	ENSP00000261170:D201N	D	-	1	0	GUCY2C	14727253	1.000000	0.71417	0.999000	0.59377	0.194000	0.23727	2.485000	0.45250	1.269000	0.44280	0.655000	0.94253	GAC	GUCY2C	-	pfam_ANF_lig-bd_rcpt	ENSG00000070019		0.418	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2C	HGNC	protein_coding	OTTHUMT00000400835.1	166	0.60	1	C			14835986	14835986	-1	no_errors	ENST00000261170	ensembl	human	known	69_37n	missense	115	12.88	17	SNP	1.000	T
GTSF1	121355	genome.wustl.edu	37	12	54857054	54857054	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A1EW-01A-11D-A135-09	TCGA-BH-A1EW-11B-33D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c6f4b1b6-a8dd-4a9a-a500-b14a738fe18f	f82dbed7-9803-4143-8b84-e8beb908c205	g.chr12:54857054C>T	ENST00000552397.1	-	4	1041	c.145G>A	c.(145-147)Gct>Act	p.A49T	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GTSF1_ENST00000305879.5_Missense_Mutation_p.A49T|GTSF1_ENST00000552395.1_5'UTR			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	49						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)	p.A49T(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				GGACAAGTAGCCAATTTGCTT	0.433																																						dbGAP											1	Substitution - Missense(1)	central_nervous_system(1)											130.0	116.0	121.0					12																	54857054		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK098819	CCDS8881.1	12q13.2	2008-02-04	2007-11-27	2007-11-27		ENSG00000170627			26565	protein-coding gene	gene with protein product			"""family with sequence similarity 112, member B"""	FAM112B		12477932	Standard	NM_144594		Approved	FLJ32942	uc001sgb.3	Q8WW33		ENST00000552397.1:c.145G>A	12.37:g.54857054C>T	ENSP00000446485:p.Ala49Thr		B3KQ60|Q0VGM4|Q8N778	Missense_Mutation	SNP	pfam_TRM13/UPF0224_CHHC_Znf_dom	p.A49T	ENST00000552397.1	37	c.145	CCDS8881.1	12	.	.	.	.	.	.	.	.	.	.	C	22.0	4.236393	0.79800	.	.	ENSG00000170627	ENST00000552397;ENST00000305879	T;T	0.50277	0.75;0.75	6.02	6.02	0.97574	TRM13/UPF0224 family, U11-48K-like CHHC zinc finger domain (1);	0.159110	0.56097	D	0.000023	T	0.59542	0.2201	M	0.63843	1.955	0.40270	D	0.978274	P	0.39044	0.656	P	0.48738	0.588	T	0.56147	-0.8027	10	0.42905	T	0.14	-17.04	18.0346	0.89296	0.0:1.0:0.0:0.0	.	49	Q8WW33	GTSF1_HUMAN	T	49	ENSP00000446485:A49T;ENSP00000304185:A49T	ENSP00000304185:A49T	A	-	1	0	GTSF1	53143321	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.828000	0.62730	2.865000	0.98341	0.655000	0.94253	GCT	GTSF1	-	pfam_TRM13/UPF0224_CHHC_Znf_dom	ENSG00000170627		0.433	GTSF1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GTSF1	HGNC	protein_coding	OTTHUMT00000406187.1	342	0.87	3	C	NM_144594		54857054	54857054	-1	no_errors	ENST00000546931	ensembl	human	known	69_37n	missense	298	12.83	44	SNP	1.000	T
LRRC37BP1	147172	genome.wustl.edu	37	17	28960257	28960257	+	RNA	SNP	T	T	A			TCGA-BH-A1EW-01A-11D-A135-09	TCGA-BH-A1EW-11B-33D-A135-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c6f4b1b6-a8dd-4a9a-a500-b14a738fe18f	f82dbed7-9803-4143-8b84-e8beb908c205	g.chr17:28960257T>A	ENST00000417404.1	+	0	1118									leucine rich repeat containing 37B pseudogene 1																		TGTGCCAAGCTCATGTCGCGA	0.458																																						dbGAP											0																																										-	-	-			0			BC118647		17q11.2	2012-10-05	2010-08-16	2010-08-16	ENSG00000250462	ENSG00000250462			25390	pseudogene	pseudogene			"""leucine rich repeat containing 37, member B2"""	LRRC37B2			Standard	NR_015341		Approved	DKFZp667M2411	uc010csj.3		OTTHUMG00000132795		17.37:g.28960257T>A				RNA	SNP	-	NULL	ENST00000417404.1	37	NULL		17																																																																																			LRRC37BP1	-	-	ENSG00000214719		0.458	LRRC37BP1-003	KNOWN	basic	processed_transcript	LRRC37BP1	HGNC	pseudogene	OTTHUMT00000256203.1	230	0.00	0	T	NR_015341		28960257	28960257	+1	no_errors	ENST00000398849	ensembl	human	known	69_37n	rna	237	12.82	35	SNP	0.397	A
NACAD	23148	genome.wustl.edu	37	7	45124668	45124668	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A1EW-01A-11D-A135-09	TCGA-BH-A1EW-11B-33D-A135-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c6f4b1b6-a8dd-4a9a-a500-b14a738fe18f	f82dbed7-9803-4143-8b84-e8beb908c205	g.chr7:45124668T>C	ENST00000490531.2	-	2	1130	c.1111A>G	c.(1111-1113)Acg>Gcg	p.T371A		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	371					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						ATGCCCTCCGTGATGGACAGG	0.627																																						dbGAP											0													33.0	33.0	33.0					7																	45124668		692	1590	2282	-	-	-	SO:0001583	missense	0			AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.1111A>G	7.37:g.45124668T>C	ENSP00000420477:p.Thr371Ala			Missense_Mutation	SNP	pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx	p.T371A	ENST00000490531.2	37	c.1111	CCDS47582.1	7	.	.	.	.	.	.	.	.	.	.	T	19.96	3.923880	0.73213	.	.	ENSG00000136274	ENST00000490531	T	0.13538	2.58	4.17	4.17	0.49024	.	0.693619	0.11745	U	0.533628	T	0.10594	0.0259	N	0.19112	0.55	0.25189	N	0.990147	P	0.34662	0.462	B	0.33960	0.173	T	0.20472	-1.0274	10	0.49607	T	0.09	-7.554	12.158	0.54087	0.0:0.0:0.0:1.0	.	371	O15069	NACAD_HUMAN	A	371	ENSP00000420477:T371A	ENSP00000420477:T371A	T	-	1	0	NACAD	45091193	1.000000	0.71417	0.994000	0.49952	0.955000	0.61496	2.941000	0.49011	1.751000	0.51876	0.379000	0.24179	ACG	NACAD	-	NULL	ENSG00000136274		0.627	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NACAD	HGNC	protein_coding	OTTHUMT00000353652.2	51	0.00	0	T	NM_001146334		45124668	45124668	-1	no_errors	ENST00000490531	ensembl	human	known	69_37n	missense	41	10.87	5	SNP	1.000	C
OSBPL8	114882	genome.wustl.edu	37	12	76765227	76765227	+	Splice_Site	SNP	C	C	T			TCGA-BH-A1EW-01A-11D-A135-09	TCGA-BH-A1EW-11B-33D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c6f4b1b6-a8dd-4a9a-a500-b14a738fe18f	f82dbed7-9803-4143-8b84-e8beb908c205	g.chr12:76765227C>T	ENST00000261183.3	-	19	2534		c.e19+1		OSBPL8_ENST00000393250.4_Splice_Site|OSBPL8_ENST00000393249.2_Splice_Site	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8						fat cell differentiation (GO:0045444)|lipid transport (GO:0006869)|negative regulation of cell migration (GO:0030336)|negative regulation of sequestering of triglyceride (GO:0010891)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of protein kinase B signaling (GO:0051897)|protein localization to nuclear pore (GO:0090204)	membrane (GO:0016020)|nuclear membrane (GO:0031965)	cholesterol binding (GO:0015485)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						AGTATACTTACTTCTCTGATT	0.338																																						dbGAP											0													145.0	143.0	144.0					12																	76765227		2202	4297	6499	-	-	-	SO:0001630	splice_region_variant	0			AF392452	CCDS31862.1, CCDS41814.1	12q14	2013-01-10				ENSG00000091039		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16396	protein-coding gene	gene with protein product		606736				1735225, 17991739	Standard	NM_020841		Approved	OSBP10, ORP8, MST120, MSTP120	uc001sye.1	Q9BZF1		ENST00000261183.3:c.2054+1G>A	12.37:g.76765227C>T			A8K1T2|E9PE66|E9PE68|Q52LQ3|Q68D75|Q8WXP8|Q9P277	Splice_Site	SNP	-	e18+1	ENST00000261183.3	37	c.2054+1	CCDS31862.1	12	.	.	.	.	.	.	.	.	.	.	C	22.4	4.281476	0.80692	.	.	ENSG00000091039	ENST00000393249;ENST00000261183;ENST00000446075;ENST00000393250;ENST00000438913;ENST00000547540;ENST00000546946	.	.	.	5.51	5.51	0.81932	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.7829	0.96424	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	OSBPL8	75289358	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.543000	0.82106	2.758000	0.94735	0.460000	0.39030	.	OSBPL8	-	-	ENSG00000091039		0.338	OSBPL8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBPL8	HGNC	protein_coding	OTTHUMT00000406357.1	460	0.00	0	C	NM_020841	Intron	76765227	76765227	-1	no_errors	ENST00000261183	ensembl	human	known	69_37n	splice_site	411	11.42	53	SNP	1.000	T
PCSK5	5125	genome.wustl.edu	37	9	78790207	78790207	+	Intron	SNP	C	C	A	rs55947300|rs10124596|rs71372053	byFrequency	TCGA-BH-A1EW-01A-11D-A135-09	TCGA-BH-A1EW-11B-33D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c6f4b1b6-a8dd-4a9a-a500-b14a738fe18f	f82dbed7-9803-4143-8b84-e8beb908c205	g.chr9:78790207C>A	ENST00000545128.1	+	14	2438				PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000376767.3_Silent_p.R688R	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5						anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						cgaatcgaatcgaatagaata	0.343																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.1900+162C>A	9.37:g.78790207C>A			F5H2G7|Q13527|Q96EP4	Silent	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel	p.R688	ENST00000545128.1	37	c.2062	CCDS55320.1	9	.	.	.	.	.	.	.	.	.	.	N	0.971	-0.700223	0.03279	.	.	ENSG00000099139	ENST00000396108	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	1.4193	0.02309	0.3429:0.3282:0.0:0.3289	rs10124596	.	.	.	X	686	.	ENSP00000379415:S686X	S	+	2	0	PCSK5	77980027	0.000000	0.05858	0.006000	0.13384	0.010000	0.07245	-3.492000	0.00453	-2.375000	0.00598	-2.399000	0.00225	TCG	PCSK5	-	NULL	ENSG00000099139		0.343	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK5	HGNC	protein_coding		17	0.00	0	C			78790207	78790207	+1	no_errors	ENST00000376767	ensembl	human	known	69_37n	silent	14	36.36	8	SNP	0.000	A
PGRMC1	10857	genome.wustl.edu	37	X	118377191	118377191	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A1EW-01A-11D-A135-09	TCGA-BH-A1EW-11B-33D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c6f4b1b6-a8dd-4a9a-a500-b14a738fe18f	f82dbed7-9803-4143-8b84-e8beb908c205	g.chrX:118377191G>A	ENST00000217971.7	+	3	673	c.562G>A	c.(562-564)Gat>Aat	p.D188N	PGRMC1_ENST00000535419.1_Missense_Mutation_p.D136N	NM_006667.3	NP_006658.1	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	188					axon guidance (GO:0007411)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleolus (GO:0005730)	heme binding (GO:0020037)|steroid binding (GO:0005496)			lung(6)	6					Dextromethorphan(DB00514)|Nortriptyline(DB00540)	AGAACCAAAAGATGAGAGTGC	0.408																																						dbGAP											0													108.0	112.0	111.0					X																	118377191		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14576.1, CCDS65313.1	Xq22-q24	2005-11-29			ENSG00000101856	ENSG00000101856			16090	protein-coding gene	gene with protein product		300435				9705155	Standard	NM_006667		Approved	HPR6.6	uc004erb.3	O00264	OTTHUMG00000022268	ENST00000217971.7:c.562G>A	X.37:g.118377191G>A	ENSP00000217971:p.Asp188Asn		B7Z1L3|Q9UGJ9	Missense_Mutation	SNP	pfam_Cyt_B5,superfamily_Cyt_B5	p.D188N	ENST00000217971.7	37	c.562	CCDS14576.1	X	.	.	.	.	.	.	.	.	.	.	.	17.36	3.370016	0.61624	.	.	ENSG00000101856	ENST00000217971;ENST00000535419	T;D	0.81996	-1.17;-1.56	4.65	4.65	0.58169	.	0.188065	0.44902	D	0.000419	T	0.77438	0.4130	L	0.46885	1.475	0.58432	D	0.999999	P;B	0.35348	0.496;0.009	B;B	0.32624	0.149;0.008	T	0.76176	-0.3055	10	0.28530	T	0.3	-32.1078	15.9283	0.79639	0.0:0.0:1.0:0.0	.	136;188	B7Z1L3;O00264	.;PGRC1_HUMAN	N	188;136	ENSP00000217971:D188N;ENSP00000442821:D136N	ENSP00000217971:D188N	D	+	1	0	PGRMC1	118261219	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.584000	0.82572	2.039000	0.60335	0.422000	0.28245	GAT	PGRMC1	-	NULL	ENSG00000101856		0.408	PGRMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGRMC1	HGNC	protein_coding	OTTHUMT00000058024.1	355	0.00	0	G	NM_006667		118377191	118377191	+1	no_errors	ENST00000217971	ensembl	human	known	69_37n	missense	271	11.15	34	SNP	1.000	A
SEPT9	10801	genome.wustl.edu	37	17	75471846	75471846	+	Intron	SNP	C	C	T			TCGA-BH-A1EW-01A-11D-A135-09	TCGA-BH-A1EW-11B-33D-A135-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c6f4b1b6-a8dd-4a9a-a500-b14a738fe18f	f82dbed7-9803-4143-8b84-e8beb908c205	g.chr17:75471846C>T	ENST00000427177.1	+	4	847				SEPT9_ENST00000588690.1_Intron|SEPT9_ENST00000590294.1_Intron|SEPT9_ENST00000449803.2_Intron|SEPT9_ENST00000591198.1_Intron|SEPT9_ENST00000541152.2_Intron|SEPT9_ENST00000592420.1_Intron|SEPT9_ENST00000427674.2_Intron|SEPT9_ENST00000431235.2_Intron|SEPT9_ENST00000590917.1_Intron|SEPT9_ENST00000427180.1_Silent_p.H82H|SEPT9_ENST00000329047.8_Intron|SEPT9_ENST00000592951.1_Intron|RP11-75C10.9_ENST00000591110.1_RNA|SEPT9_ENST00000585930.1_Intron|SEPT9_ENST00000591088.1_Intron|SEPT9_ENST00000592481.1_Intron|SEPT9_ENST00000423034.2_Intron	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9						cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			CTCCTGGACACGGGCCTGGAA	0.677																																						dbGAP											0													44.0	45.0	44.0					17																	75471846		1568	3582	5150	-	-	-	SO:0001627	intron_variant	0			AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"""Septins"""	7323	protein-coding gene	gene with protein product	"""Ov/Br septin"""	604061	"""MLL septin-like fusion"""	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.722-6380C>T	17.37:g.75471846C>T			A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Silent	SNP	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,pfam_ProtSyn_GTP-bd	p.H82	ENST00000427177.1	37	c.246	CCDS45790.1	17																																																																																			SEPT9	-	NULL	ENSG00000184640		0.677	SEPT9-001	KNOWN	basic|CCDS	protein_coding	SEPT9	HGNC	protein_coding	OTTHUMT00000436304.2	81	0.00	0	C	NM_006640		75471846	75471846	+1	no_errors	ENST00000427180	ensembl	human	known	69_37n	silent	70	13.58	11	SNP	0.000	T
UGT2A3	79799	genome.wustl.edu	37	4	69817413	69817413	+	Silent	SNP	G	G	A			TCGA-BH-A1EW-01A-11D-A135-09	TCGA-BH-A1EW-11B-33D-A135-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	c6f4b1b6-a8dd-4a9a-a500-b14a738fe18f	f82dbed7-9803-4143-8b84-e8beb908c205	g.chr4:69817413G>A	ENST00000251566.4	-	1	96	c.66C>T	c.(64-66)ttC>ttT	p.F22F	UGT2A3_ENST00000420231.2_5'Flank	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	22					cellular glucuronidation (GO:0052695)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CTTTCCCACAGAATCCACAGC	0.488																																						dbGAP											0													66.0	63.0	64.0					4																	69817413		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS3525.1	4q13.2	2010-12-14			ENSG00000135220	ENSG00000135220		"""UDP glucuronosyltransferases"""	28528	protein-coding gene	gene with protein product							Standard	NM_024743		Approved	FLJ21934	uc003hef.2	Q6UWM9	OTTHUMG00000129408	ENST00000251566.4:c.66C>T	4.37:g.69817413G>A			Q9H6S4	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.F22	ENST00000251566.4	37	c.66	CCDS3525.1	4																																																																																			UGT2A3	-	NULL	ENSG00000135220		0.488	UGT2A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2A3	HGNC	protein_coding	OTTHUMT00000251564.1	105	0.00	0	G	NM_024743		69817413	69817413	-1	no_errors	ENST00000251566	ensembl	human	known	69_37n	silent	84	16.83	17	SNP	0.000	A
