#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
ARV1	64801	genome.wustl.edu	37	1	231131566	231131567	+	Frame_Shift_Ins	INS	-	-	A	rs544784472	byFrequency	TCGA-D8-A27K-01A-11D-A16D-09	TCGA-D8-A27K-10A-01D-A16D-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	09fa0bc7-acb3-45b0-b687-977869c31d12	a25f38d9-48a6-4b15-a83b-d1a963324e96	g.chr1:231131566_231131567insA	ENST00000310256.2	+	4	566_567	c.509_510insA	c.(508-513)gcaaaafs	p.AK170fs	ARV1_ENST00000497753.1_3'UTR|ARV1_ENST00000366658.2_Frame_Shift_Ins_p.AK130fs	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	170					bile acid metabolic process (GO:0008206)|cholesterol transport (GO:0030301)|regulation of cholesterol metabolic process (GO:0090181)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		CCCATGACGGCAAAAAAAAAGC	0.381													GAAAAAAAA|AAAAAAAAA|AAAAAAAAAA|complex_insertion	4	0.000798722	0.0	0.0	5008	,	,		16943	0.001		0.001	False		,,,				2504	0.002					dbGAP											0										6,4260		0,6,2127						-1.7	0.0			80	7,8247		0,7,4120	no	frameshift	ARV1	NM_022786.1		0,13,6247	A1A1,A1R,RR		0.0848,0.1406,0.1038				13,12507				-	-	-	SO:0001589	frameshift_variant	0			AF271780	CCDS1589.1	1q42.2	2014-02-03	2006-04-04		ENSG00000173409	ENSG00000173409			29561	protein-coding gene	gene with protein product		611647	"""ARV1 homolog (yeast)"""			11063737, 12145310, 20663892	Standard	NM_022786		Approved		uc001huh.3	Q9H2C2	OTTHUMG00000037837	ENST00000310256.2:c.518dupA	1.37:g.231131575_231131575dupA	ENSP00000312458:p.Ala170fs		A8KAI4|Q5VSN7|Q5VSN8|Q5VSN9|Q5VSP0|Q5VSP2|Q9H2H2|Q9H5V6|Q9UFF5	Frame_Shift_Ins	INS	pfam_Arv1	p.K174fs	ENST00000310256.2	37	c.509_510	CCDS1589.1	1																																																																																			ARV1	-	pfam_Arv1	ENSG00000173409		0.381	ARV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARV1	HGNC	protein_coding	OTTHUMT00000092362.2	108	0.00	0	-	NM_022786		231131566	231131567	+1	no_errors	ENST00000310256	ensembl	human	known	69_37n	frame_shift_ins	108	25.00	36	INS	0.000:0.000	A
B4GALNT2	124872	genome.wustl.edu	37	17	47246211	47246211	+	Nonsense_Mutation	SNP	C	C	T	rs201141534	byFrequency	TCGA-D8-A27K-01A-11D-A16D-09	TCGA-D8-A27K-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	09fa0bc7-acb3-45b0-b687-977869c31d12	a25f38d9-48a6-4b15-a83b-d1a963324e96	g.chr17:47246211C>T	ENST00000300404.2	+	10	1503	c.1444C>T	c.(1444-1446)Cga>Tga	p.R482*	B4GALNT2_ENST00000393354.2_Nonsense_Mutation_p.R422*|B4GALNT2_ENST00000504681.1_Nonsense_Mutation_p.R396*	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	482					lipid glycosylation (GO:0030259)|negative regulation of cell-cell adhesion (GO:0022408)|protein glycosylation (GO:0006486)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)|UDP-N-acetylglucosamine metabolic process (GO:0006047)	integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	acetylgalactosaminyltransferase activity (GO:0008376)			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CCACACGGAGCGACTCCAAAG	0.587													C|||	2	0.000399361	0.0008	0.0014	5008	,	,		17281	0.0		0.0	False		,,,				2504	0.0				GBM(124;244 1635 8663 18097 33175)	dbGAP											0													62.0	48.0	53.0					17																	47246211		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ517770	CCDS11544.1, CCDS54139.1, CCDS54140.1	17q21.33	2013-02-22	2006-01-08	2006-01-08	ENSG00000167080	ENSG00000167080	2.4.1.-	"""Beta 4-glycosyltransferases"", ""Glycosyltransferase family 2 domain containing"""	24136	protein-coding gene	gene with protein product		111730	"""UDP-GalNAc:Neu5Acalpha2-3Galbeta-R beta1,4-N-acetylgalactosaminyltransferase"""	GALGT2		8782649, 12678917	Standard	NM_153446		Approved	Sda, Cad	uc002ion.2	Q8NHY0	OTTHUMG00000161307	ENST00000300404.2:c.1444C>T	17.37:g.47246211C>T	ENSP00000300404:p.Arg482*		B4DZE4|Q14CP1|Q86Y40	Nonsense_Mutation	SNP	pfam_Glyco_trans_2,pirsf_GM2_synthase	p.R482*	ENST00000300404.2	37	c.1444	CCDS11544.1	17	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	36	5.705471	0.96812	.	.	ENSG00000167080	ENST00000504681;ENST00000393354;ENST00000300404	.	.	.	5.55	4.53	0.55603	.	0.673656	0.13694	N	0.369358	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-4.9712	9.7636	0.40548	0.1832:0.691:0.1258:0.0	.	.	.	.	X	396;422;482	.	ENSP00000300404:R482X	R	+	1	2	B4GALNT2	44601210	0.435000	0.25577	0.070000	0.20053	0.974000	0.67602	2.389000	0.44407	2.600000	0.87896	0.561000	0.74099	CGA	B4GALNT2	-	pirsf_GM2_synthase	ENSG00000167080		0.587	B4GALNT2-001	KNOWN	basic|CCDS	protein_coding	B4GALNT2	HGNC	protein_coding	OTTHUMT00000364477.1	57	0.00	0	C	NM_153446		47246211	47246211	+1	no_errors	ENST00000300404	ensembl	human	known	69_37n	nonsense	18	41.18	14	SNP	0.204	T
BPTF	2186	genome.wustl.edu	37	17	65822267	65822269	+	In_Frame_Del	DEL	GAG	GAG	-	rs369989246		TCGA-D8-A27K-01A-11D-A16D-09	TCGA-D8-A27K-10A-01D-A16D-09	GAG	GAG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	09fa0bc7-acb3-45b0-b687-977869c31d12	a25f38d9-48a6-4b15-a83b-d1a963324e96	g.chr17:65822267_65822269delGAG	ENST00000321892.4	+	1	488_490	c.427_429delGAG	c.(427-429)gagdel	p.E148del	BPTF_ENST00000424123.3_In_Frame_Del_p.E9del|BPTF_ENST00000306378.6_In_Frame_Del_p.E148del|BPTF_ENST00000335221.5_In_Frame_Del_p.E148del			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	148	Glu-rich.				anterior/posterior pattern specification (GO:0009952)|ATP catabolic process (GO:0006200)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|embryonic placenta development (GO:0001892)|endoderm development (GO:0007492)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NURF complex (GO:0016589)	sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)	p.E143*(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			catggtctccgaggaggaggagg	0.635																																						dbGAP											2	Substitution - Nonsense(2)	lung(2)							,	0,111,0,4153		0,0,0,0,1,0,109,0,0,2022					,	-1.8	0.4			44	2,249,3,8000		0,0,0,2,5,0,239,0,3,3878	no	codingComplex,codingComplex	BPTF	NM_182641.3,NM_004459.6	,	0,0,0,2,6,0,348,0,3,5900	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		3.0773,2.6032,2.9158	,	,		2,360,3,12153				-	-	-	SO:0001651	inframe_deletion	0			AY282495	CCDS11673.1	17q24	2013-01-28	2006-12-01	2006-12-01	ENSG00000171634	ENSG00000171634		"""Zinc fingers, PHD-type"""	3581	protein-coding gene	gene with protein product		601819	"""fetal Alzheimer antigen"""	FALZ		8975731, 10662542, 16728976	Standard	NM_182641		Approved	FAC1, NURF301	uc002jgf.3	Q12830	OTTHUMG00000132254	ENST00000321892.4:c.427_429delGAG	17.37:g.65822276_65822278delGAG	ENSP00000315454:p.Glu148del		Q6NX67|Q7Z7D6|Q9UIG2	In_Frame_Del	DEL	pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.E146in_frame_del	ENST00000321892.4	37	c.427_429		17																																																																																			BPTF	-	NULL	ENSG00000171634		0.635	BPTF-201	KNOWN	basic	protein_coding	BPTF	HGNC	protein_coding		38	0.00	0	GAG	NM_182641, NM_004459		65822267	65822269	+1	no_errors	ENST00000321892	ensembl	human	known	69_37n	in_frame_del	6	25.00	2	DEL	1.000:1.000:1.000	-
CDC5L	988	genome.wustl.edu	37	6	44413391	44413391	+	Splice_Site	SNP	G	G	C			TCGA-D8-A27K-01A-11D-A16D-09	TCGA-D8-A27K-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	09fa0bc7-acb3-45b0-b687-977869c31d12	a25f38d9-48a6-4b15-a83b-d1a963324e96	g.chr6:44413391G>C	ENST00000371477.3	+	15	2390		c.e15-1			NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like						cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGCTCTCCAGATAAACAGGG	0.458																																						dbGAP											0													35.0	36.0	35.0					6																	44413391		2203	4299	6502	-	-	-	SO:0001630	splice_region_variant	0			D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.2092-1G>C	6.37:g.44413391G>C			Q76N46|Q99974	Splice_Site	SNP	-	e15-1	ENST00000371477.3	37	c.2092-1	CCDS4912.1	6	.	.	.	.	.	.	.	.	.	.	G	25.6	4.657698	0.88154	.	.	ENSG00000096401	ENST00000371477	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.934	0.92577	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDC5L	44521369	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.698000	0.98700	2.476000	0.83614	0.650000	0.86243	.	CDC5L	-	-	ENSG00000096401		0.458	CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC5L	HGNC	protein_coding	OTTHUMT00000040743.1	41	0.00	0	G		Intron	44413391	44413391	+1	no_errors	ENST00000371477	ensembl	human	known	69_37n	splice_site	18	28.00	7	SNP	1.000	C
COL4A6	1288	genome.wustl.edu	37	X	107402723	107402723	+	Missense_Mutation	SNP	C	C	A			TCGA-D8-A27K-01A-11D-A16D-09	TCGA-D8-A27K-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	09fa0bc7-acb3-45b0-b687-977869c31d12	a25f38d9-48a6-4b15-a83b-d1a963324e96	g.chrX:107402723C>A	ENST00000372216.4	-	44	4884	c.4784G>T	c.(4783-4785)cGc>cTc	p.R1595L	COL4A6_ENST00000545689.1_Missense_Mutation_p.R1570L|COL4A6_ENST00000538570.1_Missense_Mutation_p.R1537L|COL4A6_ENST00000418180.1_Missense_Mutation_p.R129L|COL4A6_ENST00000394872.2_Missense_Mutation_p.R1595L|COL4A6_ENST00000334504.7_Missense_Mutation_p.R1594L	NM_001847.2	NP_001838.2	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1595	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCAGAGGCTGCGCCAGCCCAG	0.617									Alport syndrome with Diffuse Leiomyomatosis																												Melanoma(87;1895 1945 2589 7165)	dbGAP											0													56.0	51.0	53.0					X																	107402723		2203	4300	6503	-	-	-	SO:0001583	missense	0	Familial Cancer Database		U04845	CCDS14541.1, CCDS14542.1, CCDS76008.1, CCDS76009.1, CCDS76010.1	Xq22	2014-09-17			ENSG00000197565	ENSG00000197565		"""Collagens"""	2208	protein-coding gene	gene with protein product		303631				8356449	Standard	NM_033641		Approved		uc004env.4	Q14031	OTTHUMG00000022179	ENST00000372216.4:c.4784G>T	X.37:g.107402723C>A	ENSP00000361290:p.Arg1595Leu		Q12823|Q14053|Q5JYH6|Q5JYH8|Q9NQM5|Q9NTX3|Q9UJ76|Q9UMG6|Q9Y4L4	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.R1595L	ENST00000372216.4	37	c.4784	CCDS14541.1	X	.	.	.	.	.	.	.	.	.	.	C	16.34	3.095190	0.56075	.	.	ENSG00000197565	ENST00000418180;ENST00000372216;ENST00000334504;ENST00000394872;ENST00000541389;ENST00000545689;ENST00000538570	D;D;D;D;D;D	0.94330	-3.4;-3.4;-3.4;-3.4;-3.4;-3.4	4.88	1.87	0.25490	C-type lectin fold (1);	0.557649	0.15161	N	0.277173	D	0.93536	0.7937	M	0.79475	2.455	0.33501	D	0.589906	P;P;P;D;P	0.53745	0.953;0.945;0.953;0.962;0.953	P;P;P;P;P	0.49140	0.466;0.481;0.466;0.601;0.466	D	0.92667	0.6146	10	0.62326	D	0.03	.	9.352	0.38145	0.0:0.7352:0.0:0.2648	.	1570;129;1537;1595;1594	F5H851;B4DZ39;F5H3Q5;Q14031;Q14031-2	.;.;.;CO4A6_HUMAN;.	L	129;1595;1594;1595;1582;1570;1537	ENSP00000406002:R129L;ENSP00000361290:R1595L;ENSP00000334733:R1594L;ENSP00000378340:R1595L;ENSP00000443707:R1570L;ENSP00000445236:R1537L	ENSP00000334733:R1594L	R	-	2	0	COL4A6	107289379	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.699000	0.47077	0.109000	0.17891	0.529000	0.55759	CGC	COL4A6	-	pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	ENSG00000197565		0.617	COL4A6-001	KNOWN	basic|CCDS	protein_coding	COL4A6	HGNC	protein_coding	OTTHUMT00000057875.2	73	0.00	0	C			107402723	107402723	-1	no_errors	ENST00000372216	ensembl	human	known	69_37n	missense	23	30.30	10	SNP	1.000	A
DENND5B	160518	genome.wustl.edu	37	12	31613237	31613237	+	Missense_Mutation	SNP	G	G	C			TCGA-D8-A27K-01A-11D-A16D-09	TCGA-D8-A27K-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	09fa0bc7-acb3-45b0-b687-977869c31d12	a25f38d9-48a6-4b15-a83b-d1a963324e96	g.chr12:31613237G>C	ENST00000389082.5	-	4	1247	c.983C>G	c.(982-984)cCc>cGc	p.P328R	DENND5B_ENST00000354285.4_Missense_Mutation_p.P350R|DENND5B_ENST00000536562.1_Missense_Mutation_p.P363R|DENND5B_ENST00000545147.1_5'UTR|DENND5B_ENST00000306833.6_Missense_Mutation_p.P363R	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	328	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AGGTAGAATGGGCACATAAAC	0.438																																						dbGAP											0													98.0	95.0	96.0					12																	31613237		1971	4167	6138	-	-	-	SO:0001583	missense	0			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.983C>G	12.37:g.31613237G>C	ENSP00000373734:p.Pro328Arg		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run	p.P363R	ENST00000389082.5	37	c.1088	CCDS44857.1	12	.	.	.	.	.	.	.	.	.	.	G	24.2	4.502766	0.85176	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562;ENST00000354285;ENST00000546299	T;T;T;T;T	0.30448	1.53;1.53;1.53;1.53;1.53	4.65	4.65	0.58169	DENN (3);	0.000000	0.64402	D	0.000001	T	0.69351	0.3101	H	0.96333	3.805	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;1.0;1.0	T	0.80933	-0.1161	10	0.87932	D	0	-8.5469	18.0731	0.89417	0.0:0.0:1.0:0.0	.	363;250;350;328;363	Q6ZUT9-2;Q6ZUT9-3;Q6ZUT9-4;Q6ZUT9;G3V1S3	.;.;.;DEN5B_HUMAN;.	R	328;363;363;350;280	ENSP00000373734:P328R;ENSP00000306482:P363R;ENSP00000444889:P363R;ENSP00000346238:P350R;ENSP00000442938:P280R	ENSP00000306482:P363R	P	-	2	0	DENND5B	31504504	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.344000	0.97050	2.569000	0.86673	0.655000	0.94253	CCC	DENND5B	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom	ENSG00000170456		0.438	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5B	HGNC	protein_coding	OTTHUMT00000402040.1	106	0.00	0	G	NM_144973		31613237	31613237	-1	no_errors	ENST00000306833	ensembl	human	known	69_37n	missense	47	25.40	16	SNP	1.000	C
FRY	10129	genome.wustl.edu	37	13	32753825	32753825	+	Missense_Mutation	SNP	C	C	T			TCGA-D8-A27K-01A-11D-A16D-09	TCGA-D8-A27K-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	09fa0bc7-acb3-45b0-b687-977869c31d12	a25f38d9-48a6-4b15-a83b-d1a963324e96	g.chr13:32753825C>T	ENST00000380250.3	+	23	3381	c.2885C>T	c.(2884-2886)cCa>cTa	p.P962L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	962						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATAGGCACCCCATCGGTGGGA	0.398																																						dbGAP											0													160.0	150.0	153.0					13																	32753825		1875	4112	5987	-	-	-	SO:0001583	missense	0			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.2885C>T	13.37:g.32753825C>T	ENSP00000369600:p.Pro962Leu		Q9Y3N6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.P962L	ENST00000380250.3	37	c.2885	CCDS41875.1	13	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862041	0.91433	.	.	ENSG00000073910	ENST00000380250	T	0.62788	0.0	6.03	6.03	0.97812	.	0.113505	0.64402	D	0.000009	T	0.75953	0.3920	M	0.64997	1.995	0.80722	D	1	D	0.55605	0.972	P	0.60609	0.877	T	0.70483	-0.4859	10	0.33141	T	0.24	.	20.5568	0.99304	0.0:1.0:0.0:0.0	.	962	Q5TBA9	FRY_HUMAN	L	962	ENSP00000369600:P962L	ENSP00000369600:P962L	P	+	2	0	FRY	31651825	1.000000	0.71417	0.977000	0.42913	0.897000	0.52465	7.667000	0.83888	2.861000	0.98227	0.655000	0.94253	CCA	FRY	-	superfamily_ARM-type_fold	ENSG00000073910		0.398	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	118	0.00	0	C	NM_023037		32753825	32753825	+1	no_errors	ENST00000380250	ensembl	human	known	69_37n	missense	49	24.62	16	SNP	1.000	T
GATA3	2625	genome.wustl.edu	37	10	8111558	8111559	+	Frame_Shift_Ins	INS	-	-	AATA			TCGA-D8-A27K-01A-11D-A16D-09	TCGA-D8-A27K-10A-01D-A16D-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	09fa0bc7-acb3-45b0-b687-977869c31d12	a25f38d9-48a6-4b15-a83b-d1a963324e96	g.chr10:8111558_8111559insAATA	ENST00000346208.3	+	5	1499_1500	c.1044_1045insAATA	c.(1045-1047)aatfs	p.-349fs	GATA3_ENST00000379328.3_Frame_Shift_Ins_p.-350fs|GATA3_ENST00000461472.1_3'UTR			P23771	GATA3_HUMAN	GATA binding protein 3						anatomical structure formation involved in morphogenesis (GO:0048646)|anatomical structure morphogenesis (GO:0009653)|aortic valve morphogenesis (GO:0003180)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|canonical Wnt signaling pathway involved in metanephric kidney development (GO:0061290)|cardiac right ventricle morphogenesis (GO:0003215)|cell fate determination (GO:0001709)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|cellular response to interferon-alpha (GO:0035457)|cellular response to interleukin-4 (GO:0071353)|cellular response to tumor necrosis factor (GO:0071356)|defense response (GO:0006952)|developmental growth (GO:0048589)|ear development (GO:0043583)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|interferon-gamma secretion (GO:0072643)|interleukin-4 secretion (GO:0072602)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lymphocyte migration (GO:0072676)|male gonad development (GO:0008584)|mast cell differentiation (GO:0060374)|mesenchymal to epithelial transition (GO:0060231)|mesonephros development (GO:0001823)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell motility (GO:2000146)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell proliferation involved in mesonephros development (GO:2000607)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation (GO:2000703)|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation (GO:2000734)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|negative regulation of transcription, DNA-templated (GO:0045892)|nephric duct formation (GO:0072179)|nephric duct morphogenesis (GO:0072178)|neuron migration (GO:0001764)|norepinephrine biosynthetic process (GO:0042421)|otic vesicle development (GO:0071599)|parathyroid gland development (GO:0060017)|parathyroid hormone secretion (GO:0035898)|pharyngeal system development (GO:0060037)|phosphatidylinositol 3-kinase signaling (GO:0014065)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-13 secretion (GO:2000667)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-5 secretion (GO:2000664)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of signal transduction (GO:0009967)|positive regulation of T cell differentiation (GO:0045582)|positive regulation of thyroid hormone generation (GO:2000611)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ureteric bud formation (GO:0072107)|post-embryonic development (GO:0009791)|pro-T cell differentiation (GO:0002572)|regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)|regulation of cellular response to X-ray (GO:2000683)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of establishment of cell polarity (GO:2000114)|regulation of histone H3-K27 methylation (GO:0061085)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuron projection development (GO:0010975)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gamma radiation (GO:0010332)|response to virus (GO:0009615)|signal transduction (GO:0007165)|sympathetic nervous system development (GO:0048485)|T cell receptor signaling pathway (GO:0050852)|T-helper 2 cell differentiation (GO:0045064)|thymic T cell selection (GO:0045061)|thymus development (GO:0048538)|TOR signaling (GO:0031929)|transcription from RNA polymerase II promoter (GO:0006366)|type IV hypersensitivity (GO:0001806)|ureter maturation (GO:0035799)|ureteric bud formation (GO:0060676)|uterus development (GO:0060065)|ventricular septum development (GO:0003281)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter proximal region sequence-specific DNA binding (GO:0000987)|core promoter sequence-specific DNA binding (GO:0001046)|DNA binding (GO:0003677)|E-box binding (GO:0070888)|enhancer sequence-specific DNA binding (GO:0001158)|HMG box domain binding (GO:0071837)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|zinc ion binding (GO:0008270)			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						ACAAGCTTCACAATGTAAGTGG	0.554			"""F, N, S"""		breast		"""HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"""																															dbGAP		Rec	yes		10	10p15	2625	GATA binding protein 3	yes	E	0																																										-	-	-	SO:0001589	frameshift_variant	0			X55122	CCDS7083.1, CCDS31143.1	10p15	2013-01-25	2001-11-28		ENSG00000107485	ENSG00000107485		"""GATA zinc finger domain containing"""	4172	protein-coding gene	gene with protein product		131320	"""GATA-binding protein 3"""			2050118, 15087456	Standard	NM_002051		Approved	HDR	uc001ijz.3	P23771	OTTHUMG00000017640	ENST00000346208.3:c.1045_1048dupAATA	10.37:g.8111558_8111559insAATA	ENSP00000341619:p.Asn349fs		Q5VWG7|Q5VWG8|Q96J16	Frame_Shift_Ins	INS	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA	p.I350fs	ENST00000346208.3	37	c.1047_1048	CCDS7083.1	10																																																																																			GATA3	-	pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA	ENSG00000107485		0.554	GATA3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	GATA3	HGNC	protein_coding	OTTHUMT00000046719.1	100	0.00	0	-	NM_001002295		8111558	8111559	+1	no_errors	ENST00000379328	ensembl	human	known	69_37n	frame_shift_ins	36	12.20	5	INS	1.000:1.000	AATA
GNLY	10578	genome.wustl.edu	37	2	85923124	85923124	+	Missense_Mutation	SNP	G	G	T			TCGA-D8-A27K-01A-11D-A16D-09	TCGA-D8-A27K-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	09fa0bc7-acb3-45b0-b687-977869c31d12	a25f38d9-48a6-4b15-a83b-d1a963324e96	g.chr2:85923124G>T	ENST00000263863.4	+	3	328	c.200G>T	c.(199-201)aGg>aTg	p.R67M	GNLY_ENST00000524600.1_Missense_Mutation_p.R94M|GNLY_ENST00000533041.1_3'UTR|GNLY_ENST00000409696.3_Missense_Mutation_p.R52M	NM_006433.3	NP_006424.2	P22749	GNLY_HUMAN	granulysin	67	Saposin B-type. {ECO:0000255|PROSITE- ProRule:PRU00415}.				cellular defense response (GO:0006968)|defense response to bacterium (GO:0042742)|defense response to fungus (GO:0050832)|killing of cells of other organism (GO:0031640)	extracellular space (GO:0005615)				endometrium(4)|kidney(10)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	19						CGTGACTACAGGACCTGTCTG	0.537																																						dbGAP											0													73.0	66.0	68.0					2																	85923124		2203	4300	6503	-	-	-	SO:0001583	missense	0			X54101	CCDS1984.1, CCDS46354.1	2p12-q11	2008-02-05			ENSG00000115523	ENSG00000115523			4414	protein-coding gene	gene with protein product	"""T-lymphocyte activation gene 519"""	188855		LAG2		2212946, 2434598	Standard	NM_012483		Approved	NKG5, LAG-2, D2S69E, TLA519	uc002sql.4	P22749	OTTHUMG00000130179	ENST00000263863.4:c.200G>T	2.37:g.85923124G>T	ENSP00000263863:p.Arg67Met		P09325|Q6GU08	Nonsense_Mutation	SNP	pfam_SapB_2,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB	p.G34*	ENST00000263863.4	37	c.100	CCDS1984.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.040|6.040	0.375685|0.375685	0.11409|0.11409	.|.	.|.	ENSG00000115523|ENSG00000115523	ENST00000526018|ENST00000263863;ENST00000524600;ENST00000409696	.|T;T;T	.|0.46451	.|0.88;0.87;0.89	2.07|2.07	-4.13|-4.13	0.03904|0.03904	.|Saposin-like (1);Saposin B (2);	.|0.752770	.|0.12229	.|U	.|0.487656	.|T	.|0.19046	.|0.0457	N|N	0.14661|0.14661	0.345|0.345	0.09310|0.09310	N|N	1|1	.|B;B	.|0.16802	.|0.019;0.019	.|B;B	.|0.14578	.|0.01;0.011	.|T	.|0.09015	.|-1.0694	.|10	.|0.48119	.|T	.|0.1	.|.	3.4882|3.4882	0.07627|0.07627	0.3884:0.0:0.4285:0.1832|0.3884:0.0:0.4285:0.1832	.|.	.|94;67	.|B4E3H9;P22749	.|.;GNLY_HUMAN	X|M	34|67;94;52	.|ENSP00000263863:R67M;ENSP00000436423:R94M;ENSP00000387116:R52M	.|ENSP00000263863:R67M	G|R	+|+	1|2	0|0	GNLY|GNLY	85776635|85776635	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-2.441000|-2.441000	0.01015|0.01015	-1.081000|-1.081000	0.03105|0.03105	-1.809000|-1.809000	0.00614|0.00614	GGA|AGG	GNLY	-	smart_SaposinB,pfscan_SaposinB	ENSG00000115523		0.537	GNLY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNLY	HGNC	protein_coding	OTTHUMT00000252497.1	78	0.00	0	G	NM_006433		85923124	85923124	+1	no_start_codon:pseudogene:no_stop_codon	ENST00000526018	ensembl	human	putative	69_37n	nonsense	32	11.11	4	SNP	0.000	T
HGS	9146	genome.wustl.edu	37	17	79662012	79662012	+	Missense_Mutation	SNP	G	G	A	rs570671002	byFrequency	TCGA-D8-A27K-01A-11D-A16D-09	TCGA-D8-A27K-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	09fa0bc7-acb3-45b0-b687-977869c31d12	a25f38d9-48a6-4b15-a83b-d1a963324e96	g.chr17:79662012G>A	ENST00000329138.4	+	13	1169	c.1034G>A	c.(1033-1035)aGc>aAc	p.S345N		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	345	Interaction with SNX1. {ECO:0000250}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			GCTCGCAAGAGCCCCACGCCA	0.667																																						dbGAP											0													74.0	79.0	77.0					17																	79662012		2203	4300	6503	-	-	-	SO:0001583	missense	0			D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.1034G>A	17.37:g.79662012G>A	ENSP00000331201:p.Ser345Asn		Q9NR36	Missense_Mutation	SNP	pfam_VHS,pfam_HRS_helical,pfam_Znf_FYVE,superfamily_ENTH_VHS,superfamily_Znf_FYVE_PHD,smart_VHS_subgr,smart_Znf_FYVE,pirsf_Ubi-bd_Hrs_VPS27,pfscan_Ubiquitin-int_motif,pfscan_VHS,pfscan_Znf_FYVE-rel	p.S345N	ENST00000329138.4	37	c.1034	CCDS11784.1	17	.	.	.	.	.	.	.	.	.	.	G	16.29	3.081078	0.55753	.	.	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.40756	1.02	5.19	4.21	0.49690	.	0.037766	0.85682	D	0.000000	T	0.57257	0.2041	M	0.77103	2.36	0.52501	D	0.999951	P	0.51933	0.949	P	0.52672	0.706	T	0.64245	-0.6453	10	0.62326	D	0.03	-28.7354	14.766	0.69640	0.0:0.1456:0.8543:0.0	.	345	O14964	HGS_HUMAN	N	345	ENSP00000331201:S345N	ENSP00000331201:S345N	S	+	2	0	HGS	77272417	1.000000	0.71417	0.962000	0.40283	0.066000	0.16364	9.131000	0.94446	1.155000	0.42497	-0.502000	0.04539	AGC	HGS	-	pirsf_Ubi-bd_Hrs_VPS27	ENSG00000185359		0.667	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGS	HGNC	protein_coding	OTTHUMT00000440541.1	66	0.00	0	G	NM_004712		79662012	79662012	+1	no_errors	ENST00000329138	ensembl	human	known	69_37n	missense	14	33.33	7	SNP	1.000	A
IFI44	10561	genome.wustl.edu	37	1	79120883	79120883	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A27K-01A-11D-A16D-09	TCGA-D8-A27K-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	09fa0bc7-acb3-45b0-b687-977869c31d12	a25f38d9-48a6-4b15-a83b-d1a963324e96	g.chr1:79120883A>G	ENST00000370747.4	+	4	764	c.679A>G	c.(679-681)Ata>Gta	p.I227V	IFI44_ENST00000495254.1_3'UTR|IFI44_ENST00000545124.1_5'UTR	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	227					response to virus (GO:0009615)	cytoplasm (GO:0005737)				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						TACAACTGGGATATCTGAGAA	0.418																																						dbGAP											0													107.0	103.0	105.0					1																	79120883		2203	4300	6503	-	-	-	SO:0001583	missense	0			D28915	CCDS688.1	1p31.1	2013-03-14			ENSG00000137965	ENSG00000137965			16938	protein-coding gene	gene with protein product	"""TBC/LysM-associated domain containing 5"""	610468				7925411	Standard	NM_006417		Approved	MTAP44, p44, TLDC5	uc001dip.4	Q8TCB0	OTTHUMG00000009723	ENST00000370747.4:c.679A>G	1.37:g.79120883A>G	ENSP00000359783:p.Ile227Val		B7ZAG3|D3DQ80|Q14496	Missense_Mutation	SNP	pfam_TLDc	p.I227V	ENST00000370747.4	37	c.679	CCDS688.1	1	.	.	.	.	.	.	.	.	.	.	A	0.860	-0.735501	0.03111	.	.	ENSG00000137965	ENST00000370747;ENST00000438486	T;T	0.32023	1.47;1.47	3.45	1.09	0.20402	.	0.690383	0.13926	N	0.353239	T	0.04815	0.0130	N	0.12637	0.245	0.09310	N	0.999999	B;B	0.21452	0.056;0.024	B;B	0.12837	0.008;0.008	T	0.39800	-0.9596	10	0.31617	T	0.26	.	5.8184	0.18514	0.6489:0.0:0.3511:0.0	.	227;227	B7ZB11;Q8TCB0	.;IFI44_HUMAN	V	227;103	ENSP00000359783:I227V;ENSP00000399477:I103V	ENSP00000359783:I227V	I	+	1	0	IFI44	78893471	0.000000	0.05858	0.001000	0.08648	0.075000	0.17131	-0.087000	0.11215	0.220000	0.20860	0.460000	0.39030	ATA	IFI44	-	NULL	ENSG00000137965		0.418	IFI44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFI44	HGNC	protein_coding	OTTHUMT00000026825.1	116	0.00	0	A	NM_006417		79120883	79120883	+1	no_errors	ENST00000370747	ensembl	human	known	69_37n	missense	55	32.93	27	SNP	0.000	G
LRRC61	65999	genome.wustl.edu	37	7	150034402	150034402	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27K-01A-11D-A16D-09	TCGA-D8-A27K-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	09fa0bc7-acb3-45b0-b687-977869c31d12	a25f38d9-48a6-4b15-a83b-d1a963324e96	g.chr7:150034402G>A	ENST00000359623.4	+	3	1040	c.452G>A	c.(451-453)cGg>cAg	p.R151Q	LRRC61_ENST00000493307.1_Missense_Mutation_p.R151Q|LRRC61_ENST00000323078.7_Missense_Mutation_p.R151Q	NM_001142928.1	NP_001136400.1	Q9BV99	LRC61_HUMAN	leucine rich repeat containing 61	151	LRRCT.									endometrium(2)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			GCTGCAGTCCGGGAGCTGCTG	0.642																																						dbGAP											0													68.0	68.0	68.0					7																	150034402		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC001354	CCDS5901.1	7q31-q35	2006-02-07			ENSG00000127399	ENSG00000127399			21704	protein-coding gene	gene with protein product							Standard	NM_023942		Approved	MGC3036, FLJ31392, HSPC295	uc003wgv.4	Q9BV99	OTTHUMG00000158326	ENST00000359623.4:c.452G>A	7.37:g.150034402G>A	ENSP00000352642:p.Arg151Gln		B3KUW0|D3DWY8	Missense_Mutation	SNP	pfam_Leu-rich_rpt	p.R151Q	ENST00000359623.4	37	c.452	CCDS5901.1	7	.	.	.	.	.	.	.	.	.	.	G	7.156	0.584698	0.13749	.	.	ENSG00000127399	ENST00000323078;ENST00000359623;ENST00000493307	T;T;T	0.24350	1.86;1.86;1.86	3.82	-0.231	0.13086	.	0.628220	0.15188	N	0.275720	T	0.11665	0.0284	N	0.14661	0.345	0.09310	N	1	B	0.13145	0.007	B	0.04013	0.001	T	0.17776	-1.0358	10	0.45353	T	0.12	-0.1247	3.5906	0.07987	0.4158:0.0:0.4123:0.1719	.	151	Q9BV99	LRC61_HUMAN	Q	151	ENSP00000339047:R151Q;ENSP00000352642:R151Q;ENSP00000420560:R151Q	ENSP00000339047:R151Q	R	+	2	0	LRRC61	149665335	0.000000	0.05858	0.084000	0.20598	0.863000	0.49368	-0.423000	0.07034	-0.268000	0.09312	0.306000	0.20318	CGG	LRRC61	-	NULL	ENSG00000127399		0.642	LRRC61-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC61	HGNC	protein_coding	OTTHUMT00000350696.1	76	0.00	0	G	NM_023942		150034402	150034402	+1	no_errors	ENST00000323078	ensembl	human	known	69_37n	missense	15	48.39	15	SNP	0.002	A
NBAS	51594	genome.wustl.edu	37	2	15651439	15651439	+	Missense_Mutation	SNP	A	A	T			TCGA-D8-A27K-01A-11D-A16D-09	TCGA-D8-A27K-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	09fa0bc7-acb3-45b0-b687-977869c31d12	a25f38d9-48a6-4b15-a83b-d1a963324e96	g.chr2:15651439A>T	ENST00000281513.5	-	10	807	c.782T>A	c.(781-783)gTa>gAa	p.V261E	NBAS_ENST00000441750.1_Missense_Mutation_p.V261E	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	261					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TGACATGCCTACTTCAGCAGT	0.373																																						dbGAP											0													99.0	100.0	100.0					2																	15651439		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.782T>A	2.37:g.15651439A>T	ENSP00000281513:p.Val261Glu		O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	pfam_Sec39,superfamily_Quino_amine_DH_bsu	p.V261E	ENST00000281513.5	37	c.782	CCDS1685.1	2	.	.	.	.	.	.	.	.	.	.	A	6.559	0.471419	0.12461	.	.	ENSG00000151779	ENST00000441750;ENST00000281513	T;T	0.41400	1.0;1.0	5.62	0.00886	0.14076	Quinoprotein amine dehydrogenase, beta chain-like (1);	0.561489	0.19414	N	0.114864	T	0.12008	0.0292	N	0.01352	-0.895	0.21675	N	0.999592	B	0.09022	0.002	B	0.06405	0.002	T	0.17899	-1.0354	10	0.87932	D	0	.	0.5795	0.00709	0.3731:0.1309:0.2695:0.2265	.	261	A2RRP1	NBAS_HUMAN	E	261	ENSP00000413201:V261E;ENSP00000281513:V261E	ENSP00000281513:V261E	V	-	2	0	NBAS	15568890	0.017000	0.18338	0.019000	0.16419	0.928000	0.56348	0.851000	0.27751	0.417000	0.25871	0.383000	0.25322	GTA	NBAS	-	superfamily_Quino_amine_DH_bsu	ENSG00000151779		0.373	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	HGNC	protein_coding	OTTHUMT00000241638.1	75	0.00	0	A	NM_015909		15651439	15651439	-1	no_errors	ENST00000281513	ensembl	human	known	69_37n	missense	28	36.96	17	SNP	0.946	T
OGDH	4967	genome.wustl.edu	37	7	44713499	44713499	+	Silent	SNP	G	G	A			TCGA-D8-A27K-01A-11D-A16D-09	TCGA-D8-A27K-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	09fa0bc7-acb3-45b0-b687-977869c31d12	a25f38d9-48a6-4b15-a83b-d1a963324e96	g.chr7:44713499G>A	ENST00000222673.5	+	6	789	c.747G>A	c.(745-747)gaG>gaA	p.E249E	OGDH_ENST00000449767.1_Silent_p.E245E|OGDH_ENST00000444676.1_Silent_p.E264E|OGDH_ENST00000443864.2_Silent_p.E249E|OGDH_ENST00000447398.1_Silent_p.E260E|OGDH_ENST00000439616.2_Intron|OGDH_ENST00000543843.1_Silent_p.E200E|OGDH_ENST00000459672.1_3'UTR	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	249					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	TCACAAATGAGGAGAAACGGA	0.572																																						dbGAP											0													103.0	96.0	98.0					7																	44713499		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.747G>A	7.37:g.44713499G>A			B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Silent	SNP	pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.E249	ENST00000222673.5	37	c.747	CCDS34627.1	7																																																																																			OGDH	-	pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	ENSG00000105953		0.572	OGDH-001	KNOWN	basic|CCDS	protein_coding	OGDH	HGNC	protein_coding	OTTHUMT00000339391.1	116	0.00	0	G			44713499	44713499	+1	no_errors	ENST00000222673	ensembl	human	known	69_37n	silent	42	17.31	9	SNP	1.000	A
OPRM1	4988	genome.wustl.edu	37	6	154412457	154412457	+	Silent	SNP	T	T	C			TCGA-D8-A27K-01A-11D-A16D-09	TCGA-D8-A27K-10A-01D-A16D-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	09fa0bc7-acb3-45b0-b687-977869c31d12	a25f38d9-48a6-4b15-a83b-d1a963324e96	g.chr6:154412457T>C	ENST00000330432.7	+	3	1251	c.1014T>C	c.(1012-1014)taT>taC	p.Y338Y	OPRM1_ENST00000522236.1_Silent_p.Y238Y|OPRM1_ENST00000522555.1_Silent_p.Y238Y|OPRM1_ENST00000360422.4_Silent_p.Y338Y|OPRM1_ENST00000414028.2_Silent_p.Y338Y|OPRM1_ENST00000435918.2_Silent_p.Y338Y|OPRM1_ENST00000434900.2_Silent_p.Y431Y|OPRM1_ENST00000520708.1_Silent_p.Y238Y|OPRM1_ENST00000428397.2_Silent_p.Y338Y|OPRM1_ENST00000452687.2_Silent_p.Y338Y|OPRM1_ENST00000337049.4_Silent_p.Y338Y|OPRM1_ENST00000229768.5_Silent_p.Y338Y|OPRM1_ENST00000518759.1_Silent_p.Y257Y|OPRM1_ENST00000524163.1_Silent_p.Y338Y|OPRM1_ENST00000419506.2_Silent_p.Y338Y	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	338					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CAGTCCTTTATGCATTTCTGG	0.438																																						dbGAP											0													116.0	114.0	114.0					6																	154412457		1998	4179	6177	-	-	-	SO:0001819	synonymous_variant	0			L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.1014T>C	6.37:g.154412457T>C			B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Mu_opioid_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_W_rcpt,prints_P2_purnocptor,prints_NPY_rcpt	p.Y431	ENST00000330432.7	37	c.1293	CCDS55070.1	6																																																																																			OPRM1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_NPY_rcpt	ENSG00000112038		0.438	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPRM1	HGNC	protein_coding	OTTHUMT00000042786.2	115	0.00	0	T	NM_000914		154412457	154412457	+1	no_errors	ENST00000434900	ensembl	human	known	69_37n	silent	47	22.95	14	SNP	0.988	C
OR6C3	254786	genome.wustl.edu	37	12	55725992	55725992	+	Missense_Mutation	SNP	G	G	A			TCGA-D8-A27K-01A-11D-A16D-09	TCGA-D8-A27K-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	09fa0bc7-acb3-45b0-b687-977869c31d12	a25f38d9-48a6-4b15-a83b-d1a963324e96	g.chr12:55725992G>A	ENST00000379667.1	+	1	508	c.508G>A	c.(508-510)Gtc>Atc	p.V170I		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	170					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TGCTTCCAACGTCATTGATCA	0.438																																						dbGAP											0													285.0	256.0	266.0					12																	55725992		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF179770	CCDS31819.1	12q13.2	2013-09-23			ENSG00000205329	ENSG00000205329		"""GPCR / Class A : Olfactory receptors"""	15437	protein-coding gene	gene with protein product							Standard	NM_054104		Approved	OST709	uc010spj.2	Q9NZP0	OTTHUMG00000169861	ENST00000379667.1:c.508G>A	12.37:g.55725992G>A	ENSP00000368989:p.Val170Ile			Missense_Mutation	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.V170I	ENST00000379667.1	37	c.508	CCDS31819.1	12	.	.	.	.	.	.	.	.	.	.	G	0	-2.687092	0.00100	.	.	ENSG00000205329	ENST00000379667	T	0.00076	8.76	4.72	-4.28	0.03732	GPCR, rhodopsin-like superfamily (1);	0.149673	0.30277	N	0.009992	T	0.00039	0.0001	N	0.10874	0.06	0.09310	N	1	B	0.10296	0.003	B	0.13407	0.009	T	0.38457	-0.9660	10	0.07482	T	0.82	.	4.0656	0.09859	0.5257:0.105:0.2624:0.1069	.	170	Q9NZP0	OR6C3_HUMAN	I	170	ENSP00000368989:V170I	ENSP00000368989:V170I	V	+	1	0	OR6C3	54012259	0.000000	0.05858	0.007000	0.13788	0.017000	0.09413	-3.253000	0.00539	-0.986000	0.03498	-1.558000	0.00888	GTC	OR6C3	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam	ENSG00000205329		0.438	OR6C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6C3	HGNC	protein_coding	OTTHUMT00000406309.1	230	0.00	0	G			55725992	55725992	+1	no_errors	ENST00000379667	ensembl	human	known	69_37n	missense	96	23.20	29	SNP	0.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178916944	178916946	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-D8-A27K-01A-11D-A16D-09	TCGA-D8-A27K-10A-01D-A16D-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	09fa0bc7-acb3-45b0-b687-977869c31d12	a25f38d9-48a6-4b15-a83b-d1a963324e96	g.chr3:178916944_178916946delAAG	ENST00000263967.3	+	2	488_490	c.331_333delAAG	c.(331-333)aagdel	p.K111del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	111					angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.K111E(13)|p.K111N(12)|p.K111_L113delKIL(2)|p.K111_I112>N(1)|p.K111R(1)|p.K111del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CCGTGAAGAAAAGATCCTCAATC	0.33		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	30	Substitution - Missense(26)|Deletion - In frame(3)|Complex - deletion inframe(1)	endometrium(11)|breast(8)|large_intestine(4)|lung(4)|ovary(2)|urinary_tract(1)																																								-	-	-	SO:0001651	inframe_deletion	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.331_333delAAG	3.37:g.178916944_178916946delAAG	ENSP00000263967:p.Lys111del		Q14CW1|Q99762	In_Frame_Del	DEL	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.K111in_frame_del	ENST00000263967.3	37	c.331_333	CCDS43171.1	3																																																																																			PIK3CA	-	NULL	ENSG00000121879		0.330	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	37	0.00	0	AAG			178916944	178916946	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	in_frame_del	40	24.07	13	DEL	1.000:1.000:1.000	-
POLR1A	25885	genome.wustl.edu	37	2	86302224	86302224	+	Frame_Shift_Del	DEL	G	G	-			TCGA-D8-A27K-01A-11D-A16D-09	TCGA-D8-A27K-10A-01D-A16D-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	09fa0bc7-acb3-45b0-b687-977869c31d12	a25f38d9-48a6-4b15-a83b-d1a963324e96	g.chr2:86302224delG	ENST00000263857.6	-	12	1918	c.1540delC	c.(1540-1542)cagfs	p.Q514fs	POLR1A_ENST00000409681.1_Frame_Shift_Del_p.Q514fs			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	514					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GCCTCTCGCTGGGTCATGTCC	0.617																																						dbGAP											0													33.0	37.0	36.0					2																	86302224		2043	4185	6228	-	-	-	SO:0001589	frameshift_variant	0			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.1540delC	2.37:g.86302224delG	ENSP00000263857:p.Gln514fs		B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Frame_Shift_Del	DEL	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N	p.Q514fs	ENST00000263857.6	37	c.1540	CCDS42706.1	2																																																																																			POLR1A	-	pfam_RNA_pol_asu,smart_RNA_pol_N	ENSG00000068654		0.617	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	HGNC	protein_coding	OTTHUMT00000329830.2	50	0.00	0	G	NM_015425		86302224	86302224	-1	no_errors	ENST00000263857	ensembl	human	known	69_37n	frame_shift_del	13	13.33	2	DEL	1.000	-
RYR3	6263	genome.wustl.edu	37	15	34064135	34064135	+	Nonsense_Mutation	SNP	C	C	A			TCGA-D8-A27K-01A-11D-A16D-09	TCGA-D8-A27K-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	09fa0bc7-acb3-45b0-b687-977869c31d12	a25f38d9-48a6-4b15-a83b-d1a963324e96	g.chr15:34064135C>A	ENST00000389232.4	+	63	8901	c.8831C>A	c.(8830-8832)tCa>tAa	p.S2944*	RYR3_ENST00000415757.3_Nonsense_Mutation_p.S2944*	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2944					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTCATGAAGTCAGGCTCAGAG	0.448																																						dbGAP											0													49.0	47.0	48.0					15																	34064135		1918	4144	6062	-	-	-	SO:0001587	stop_gained	0				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.8831C>A	15.37:g.34064135C>A	ENSP00000373884:p.Ser2944*		O15175|Q15412	Nonsense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.S2944*	ENST00000389232.4	37	c.8831	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	C	51	17.910271	0.99895	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	.	.	.	5.64	5.64	0.86602	.	0.072889	0.64402	D	0.000020	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.8946	0.96949	0.0:1.0:0.0:0.0	.	.	.	.	X	2944	.	ENSP00000354735:S2944X	S	+	2	0	RYR3	31851427	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.892000	0.69790	2.937000	0.99478	0.650000	0.86243	TCA	RYR3	-	superfamily_ARM-type_fold	ENSG00000198838		0.448	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	94	0.00	0	C			34064135	34064135	+1	no_errors	ENST00000389232	ensembl	human	known	69_37n	nonsense	38	29.63	16	SNP	1.000	A
S100Z	170591	genome.wustl.edu	37	5	76173644	76173644	+	Missense_Mutation	SNP	A	A	G			TCGA-D8-A27K-01A-11D-A16D-09	TCGA-D8-A27K-10A-01D-A16D-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	09fa0bc7-acb3-45b0-b687-977869c31d12	a25f38d9-48a6-4b15-a83b-d1a963324e96	g.chr5:76173644A>G	ENST00000317593.4	+	4	519	c.287A>G	c.(286-288)aAg>aGg	p.K96R	S100Z_ENST00000513010.1_Missense_Mutation_p.K96R	NM_130772.3	NP_570128.2	Q8WXG8	S100Z_HUMAN	S100 calcium binding protein Z	96							calcium ion binding (GO:0005509)			large_intestine(1)|ovary(1)	2		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;8.91e-51)|Epithelial(54;5.43e-45)|all cancers(79;1.82e-40)		CAATTGAAGAAGAAAGGAAAA	0.348																																						dbGAP											0													88.0	95.0	93.0					5																	76173644		2112	4237	6349	-	-	-	SO:0001583	missense	0			AF437876	CCDS43333.1	5q13.3	2014-08-12	2006-09-11		ENSG00000171643	ENSG00000171643		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	30367	protein-coding gene	gene with protein product		610103	"""S100 calcium binding protein, zeta"""			11747429	Standard	NM_130772		Approved	Gm625, S100-zeta	uc003keq.4	Q8WXG8	OTTHUMG00000162441	ENST00000317593.4:c.287A>G	5.37:g.76173644A>G	ENSP00000320430:p.Lys96Arg			Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.K96R	ENST00000317593.4	37	c.287	CCDS43333.1	5	.	.	.	.	.	.	.	.	.	.	A	14.49	2.549793	0.45383	.	.	ENSG00000171643	ENST00000513010;ENST00000317593	T;T	0.04317	3.65;3.65	5.52	5.52	0.82312	EF-hand-like domain (1);	0.180757	0.64402	D	0.000020	T	0.04952	0.0133	.	.	.	0.44201	D	0.997026	P	0.35077	0.483	B	0.30251	0.113	T	0.51911	-0.8645	9	0.30078	T	0.28	.	15.4512	0.75274	1.0:0.0:0.0:0.0	.	96	Q8WXG8	S100Z_HUMAN	R	96	ENSP00000426768:K96R;ENSP00000320430:K96R	ENSP00000320430:K96R	K	+	2	0	S100Z	76209400	1.000000	0.71417	1.000000	0.80357	0.339000	0.28857	3.956000	0.56722	2.130000	0.65690	0.519000	0.50382	AAG	S100Z	-	NULL	ENSG00000171643		0.348	S100Z-002	KNOWN	alternative_3_UTR|alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	S100Z	HGNC	protein_coding	OTTHUMT00000368927.1	102	0.00	0	A	NM_130772		76173644	76173644	+1	no_errors	ENST00000317593	ensembl	human	known	69_37n	missense	55	28.57	22	SNP	1.000	G
TACC2	10579	genome.wustl.edu	37	10	123954680	123954680	+	Missense_Mutation	SNP	C	C	T	rs532281287		TCGA-D8-A27K-01A-11D-A16D-09	TCGA-D8-A27K-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	09fa0bc7-acb3-45b0-b687-977869c31d12	a25f38d9-48a6-4b15-a83b-d1a963324e96	g.chr10:123954680C>T	ENST00000369005.1	+	8	6300	c.5960C>T	c.(5959-5961)cCg>cTg	p.P1987L	TACC2_ENST00000368999.1_Missense_Mutation_p.P65L|TACC2_ENST00000360561.3_Missense_Mutation_p.P65L|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000260733.3_Missense_Mutation_p.P65L|TACC2_ENST00000334433.3_Missense_Mutation_p.P1987L|TACC2_ENST00000513429.1_Missense_Mutation_p.P133L|TACC2_ENST00000515273.1_Missense_Mutation_p.P1991L|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000358010.1_Missense_Mutation_p.P133L|TACC2_ENST00000493951.1_3'UTR|TACC2_ENST00000453444.2_Missense_Mutation_p.P1991L|TACC2_ENST00000369004.3_Missense_Mutation_p.P65L|TACC2_ENST00000515603.1_Missense_Mutation_p.P1942L	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1987	Pro-rich.				astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of microtubule-based process (GO:0032886)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	nuclear hormone receptor binding (GO:0035257)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAGCCACCCCCGGAAGAACCA	0.647																																						dbGAP											0													41.0	47.0	45.0					10																	123954680		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF095791	CCDS7625.1, CCDS7626.1, CCDS7627.1, CCDS7628.1	10q26	2008-07-29			ENSG00000138162	ENSG00000138162			11523	protein-coding gene	gene with protein product		605302				14767476	Standard	XM_005269388		Approved	AZU-1	uc001lfv.3	O95359	OTTHUMG00000019181	ENST00000369005.1:c.5960C>T	10.37:g.123954680C>T	ENSP00000358001:p.Pro1987Leu		Q4VXL0|Q4VXL3|Q4VXL6|Q4VXL7|Q5U5T7|Q86WG6|Q86WG7|Q8TCK9|Q9BVQ1|Q9NZ41|Q9NZR5	Missense_Mutation	SNP	pfam_TACC	p.P1987L	ENST00000369005.1	37	c.5960	CCDS7626.1	10	.	.	.	.	.	.	.	.	.	.	C	4.709	0.131787	0.08981	.	.	ENSG00000138162	ENST00000369005;ENST00000513429;ENST00000515273;ENST00000515603;ENST00000334433;ENST00000358010;ENST00000453444;ENST00000340076;ENST00000360561;ENST00000368999;ENST00000369004;ENST00000260733;ENST00000514539	T;T;T;T;T;T;T;T;T;T;T;T	0.07216	4.14;3.76;4.21;4.21;4.14;3.76;4.21;3.66;3.66;3.66;3.66;3.21	4.75	1.81	0.25067	.	0.586609	0.13048	N	0.417913	T	0.04907	0.0132	N	0.17674	0.51	0.33366	D	0.572942	B;B;B;B;B;B;B;B	0.29253	0.02;0.001;0.001;0.239;0.001;0.001;0.003;0.239	B;B;B;B;B;B;B;B	0.18561	0.009;0.001;0.001;0.022;0.001;0.002;0.004;0.022	T	0.39881	-0.9592	10	0.22706	T	0.39	-3.4129	9.0916	0.36614	0.0:0.786:0.0:0.214	.	82;1991;65;1942;65;65;133;1987	E9PGB3;E9PBC6;D6RAA5;E7EMZ9;O95359-6;O95359-1;O95359-5;O95359	.;.;.;.;.;.;.;TACC2_HUMAN	L	1987;133;1991;1942;1987;133;1991;1977;65;65;65;65;82	ENSP00000358001:P1987L;ENSP00000425062:P133L;ENSP00000424467:P1991L;ENSP00000427618:P1942L;ENSP00000334280:P1987L;ENSP00000350701:P133L;ENSP00000395048:P1991L;ENSP00000353763:P65L;ENSP00000357995:P65L;ENSP00000422815:P65L;ENSP00000260733:P65L;ENSP00000420967:P82L	ENSP00000260733:P65L	P	+	2	0	TACC2	123944670	0.000000	0.05858	0.119000	0.21687	0.242000	0.25591	-0.235000	0.09016	0.087000	0.17167	-0.943000	0.02675	CCG	TACC2	-	NULL	ENSG00000138162		0.647	TACC2-001	KNOWN	basic|CCDS	protein_coding	TACC2	HGNC	protein_coding	OTTHUMT00000090004.1	55	0.00	0	C			123954680	123954680	+1	no_errors	ENST00000334433	ensembl	human	known	69_37n	missense	8	61.90	13	SNP	0.835	T
TPMT	7172	genome.wustl.edu	37	6	18132371	18132371	+	Silent	SNP	C	C	T			TCGA-D8-A27K-01A-11D-A16D-09	TCGA-D8-A27K-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	09fa0bc7-acb3-45b0-b687-977869c31d12	a25f38d9-48a6-4b15-a83b-d1a963324e96	g.chr6:18132371C>T	ENST00000309983.4	-	8	703	c.618G>A	c.(616-618)agG>agA	p.R206R		NM_000367.2	NP_000358.1	P51580	TPMT_HUMAN	thiopurine S-methyltransferase	206					methylation (GO:0032259)|nucleobase-containing compound metabolic process (GO:0006139)|response to testosterone (GO:0033574)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	thiopurine S-methyltransferase activity (GO:0008119)			large_intestine(2)|lung(1)	3	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.146)	all cancers(50;0.06)|Epithelial(50;0.0654)		Azathioprine(DB00993)|Bendroflumethiazide(DB00436)|Cefazolin(DB01327)|Mercaptopurine(DB01033)|Olsalazine(DB01250)|Trichlormethiazide(DB01021)	TACCAAACAACCTTTCAATTT	0.383																																					Colon(190;1381 2791 16728 32493)	dbGAP											0													105.0	98.0	100.0					6																	18132371		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS4543.1	6p22.3	2014-09-17			ENSG00000137364	ENSG00000137364	2.1.1.67		12014	protein-coding gene	gene with protein product		187680				8316220	Standard	NM_000367		Approved		uc003ncm.3	P51580	OTTHUMG00000014317	ENST00000309983.4:c.618G>A	6.37:g.18132371C>T			O14806|O15423|O15424|O15425|O15426|O15515|O15548|O43213|Q5VUK6|Q9UBE6|Q9UBT8|Q9UE62	Silent	SNP	pfam_TPMT,pirsf_Thiopurine_S-MeTrfase	p.R206	ENST00000309983.4	37	c.618	CCDS4543.1	6																																																																																			TPMT	-	pfam_TPMT,pirsf_Thiopurine_S-MeTrfase	ENSG00000137364		0.383	TPMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPMT	HGNC	protein_coding	OTTHUMT00000039960.1	101	0.00	0	C			18132371	18132371	-1	no_errors	ENST00000309983	ensembl	human	known	69_37n	silent	61	23.75	19	SNP	0.001	T
TTC22	55001	genome.wustl.edu	37	1	55251674	55251674	+	Silent	SNP	C	C	T	rs199739536		TCGA-D8-A27K-01A-11D-A16D-09	TCGA-D8-A27K-10A-01D-A16D-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	09fa0bc7-acb3-45b0-b687-977869c31d12	a25f38d9-48a6-4b15-a83b-d1a963324e96	g.chr1:55251674C>T	ENST00000371276.4	-	5	1105	c.1002G>A	c.(1000-1002)gcG>gcA	p.A334A	TTC22_ENST00000371274.4_Silent_p.A334A	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	334										kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TTGTGCAGTACGCCTGCCAGT	0.552													C|||	1	0.000199681	0.0	0.0	5008	,	,		16528	0.001		0.0	False		,,,				2504	0.0					dbGAP											0													69.0	64.0	65.0					1																	55251674		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK000626	CCDS598.1, CCDS44152.1	1p32.3	2013-01-11			ENSG00000006555	ENSG00000006555		"""Tetratricopeptide (TTC) repeat domain containing"""	26067	protein-coding gene	gene with protein product							Standard	NM_017904		Approved	FLJ20619	uc009vzt.1	Q5TAA0	OTTHUMG00000009916	ENST00000371276.4:c.1002G>A	1.37:g.55251674C>T			Q9NWT4	Silent	SNP	smart_TPR_repeat	p.A334	ENST00000371276.4	37	c.1002	CCDS44152.1	1																																																																																			TTC22	-	NULL	ENSG00000006555		0.552	TTC22-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TTC22	HGNC	protein_coding	OTTHUMT00000027438.1	59	0.00	0	C	NM_017904		55251674	55251674	-1	no_errors	ENST00000371276	ensembl	human	known	69_37n	silent	16	42.86	12	SNP	0.682	T
