#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_ ensembl_gene_id	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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GMAF	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	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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_dbSNP	i_default_gene_name	i_deletion_substructures	i_domain	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	i_gene_name_source	i_gene_type	i_havana_transcript	i_n_alt_count	i_n_alt_count_full	i_n_alt_count_val	i_n_ref_count	i_n_ref_count_full	i_n_ref_count_val	i_normal_vaf	i_normal_vaf_val	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_t_alt_count_full	i_t_alt_count_val	i_t_ref_count_full	i_t_ref_count_val	i_tier	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_vaf	i_tumor_vaf_val	i_type	i_ucsc_cons	i_variant	t_alt_count	t_ref_count
FLNA	2316	genome.wustl.edu	37	X	153588591	153588591	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chrX:153588591G>A	ENST00000369850.3	-	22	3808	c.3572C>T	c.(3571-3573)gCg>gTg	p.A1191V	FLNA_ENST00000360319.4_Missense_Mutation_p.A1191V|FLNA_ENST00000422373.1_Missense_Mutation_p.A1191V|FLNA_ENST00000344736.4_Missense_Mutation_p.A1191V|FLNA_ENST00000369856.3_5'Flank	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1191					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTCAGCTCCGCGCTGCCCGC	0.642											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	ENSG00000196924																																					0													36.0	42.0	40.0					X																	153588591		2050	4158	6208	SO:0001583	missense	0			-	X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.3572C>T	X.37:g.153588591G>A	ENSP00000358866:p.Ala1191Val	1756	E9KL45|Q5HY53|Q5HY55|Q8NF52	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.A1191V	ENST00000369850.3	37	c.3572	CCDS48194.1	X	.	.	.	.	.	.	.	.	.	.	G	15.00	2.702102	0.48307	.	.	ENSG00000196924	ENST00000360319;ENST00000369852;ENST00000422373;ENST00000369850;ENST00000344736	D;D;D;D	0.92299	-3.01;-3.01;-3.01;-2.94	4.92	4.92	0.64577	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.96423	0.8833	M	0.91818	3.245	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.65874	0.939;0.934	D	0.97256	0.9901	10	0.87932	D	0	.	14.0254	0.64582	0.0:0.1597:0.8403:0.0	.	1191;1191	P21333-2;P21333	.;FLNA_HUMAN	V	1191;1164;1191;1191;1191	ENSP00000353467:A1191V;ENSP00000416926:A1191V;ENSP00000358866:A1191V;ENSP00000358863:A1191V	ENSP00000358863:A1191V	A	-	2	0	FLNA	153241785	1.000000	0.71417	0.076000	0.20297	0.130000	0.20726	3.423000	0.52756	2.043000	0.60533	0.525000	0.51046	GCG	-	FL	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.642	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FL	HGNC	protein_coding	OTTHUMT00000058942.3	0	0		22	22		0.00		G			153588591	-1	5		22		tier1	no_errors	ENST00000369850	ensembl	human	known	74_37	missense	18.52		SNP	0.994	A	5	22
ZNF704	619279	genome.wustl.edu	37	8	81577288	81577288	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr8:81577288C>A	ENST00000327835.3	-	6	920	c.689G>T	c.(688-690)gGa>gTa	p.G230V	ZNF704_ENST00000520336.1_5'Flank	NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	230							metal ion binding (GO:0046872)			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			GTCCTCTTCTCCATCACTGTA	0.493													ENSG00000164684																																					0													100.0	88.0	92.0					8																	81577288		2203	4300	6503	SO:0001583	missense	0			-	AK131274	CCDS34913.1	8q21.13	2008-05-02			ENSG00000164684	ENSG00000164684			32291	protein-coding gene	gene with protein product							Standard	NM_001033723		Approved	FLJ16218, Gig1	uc003yby.2	Q6ZNC4	OTTHUMG00000164733	ENST00000327835.3:c.689G>T	8.37:g.81577288C>A	ENSP00000331462:p.Gly230Val		B2RNE6|B9EGW6	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.G230V	ENST00000327835.3	37	c.689	CCDS34913.1	8	.	.	.	.	.	.	.	.	.	.	C	29.8	5.038405	0.93630	.	.	ENSG00000164684	ENST00000327835	D	0.82893	-1.66	6.07	6.07	0.98685	.	0.045029	0.85682	D	0.000000	D	0.91277	0.7250	M	0.72118	2.19	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90583	0.4531	10	0.62326	D	0.03	-15.8596	20.6439	0.99570	0.0:1.0:0.0:0.0	.	230	Q6ZNC4	ZN704_HUMAN	V	230	ENSP00000331462:G230V	ENSP00000331462:G230V	G	-	2	0	ZNF704	81739843	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.818000	0.86416	2.890000	0.99128	0.650000	0.86243	GGA	-	ZNF704	-	NULL		0.493	ZNF704-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF704	HGNC	protein_coding	OTTHUMT00000379964.2	0	0		48	48		0.00		C	NM_001033723		81577288	-1	3		21		tier1	no_errors	ENST00000327835	ensembl	human	known	74_37	missense	12.50		SNP	1.000	A	3	21
YAF2	10138	genome.wustl.edu	37	12	42629563	42629563	+	Intron	DEL	A	A	-	rs565109622		TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr12:42629563delA	ENST00000534854.2	-	2	220				PPHLN1_ENST00000549190.1_5'Flank|YAF2_ENST00000541702.2_5'UTR|YAF2_ENST00000380788.3_Intron|YAF2_ENST00000380790.4_Intron|YAF2_ENST00000327791.4_Intron|YAF2_ENST00000442791.3_Intron|YAF2_ENST00000555248.2_3'UTR	NM_005748.4	NP_005739.2	Q8IY57	YAF2_HUMAN	YY1 associated factor 2						negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)	8	all_cancers(12;0.000425)	Lung NSC(34;0.0402)|all_lung(34;0.057)		GBM - Glioblastoma multiforme(48;0.0514)		ATGTACTGGTAAAAAAAAAAA	0.438													ENSG00000015153																																					0																																										SO:0001627	intron_variant	0				U72209	CCDS31775.1, CCDS53778.1, CCDS53779.1, CCDS53780.1	12q12	2014-09-04			ENSG00000015153	ENSG00000015153			17363	protein-coding gene	gene with protein product		607534				9016636	Standard	NM_001190977		Approved		uc001rmw.3	Q8IY57	OTTHUMG00000169380	ENST00000534854.2:c.152+1837T>-	12.37:g.42629563delA			A8K5P0|B4DFU3|G3V465|Q99710	R	DEL	-	NULL	ENST00000534854.2	37	NULL	CCDS31775.1	12																																																																																				YAF2	-	-		0.438	YAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YAF2	HGNC	protein_coding	OTTHUMT00000403781.1	0	0		25	25		0.00		A			42629563	-1	4		21		tier1	no_errors	ENST00000541702	ensembl	human	known	74_37	rna	16.00		DEL	0.986	-	4	21
FAP	2191	genome.wustl.edu	37	2	163031447	163031447	+	Silent	SNP	G	G	T			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr2:163031447G>T	ENST00000188790.4	-	22	2106	c.1899C>A	c.(1897-1899)gcC>gcA	p.A633A	FAP_ENST00000443424.1_Silent_p.A608A|AC007750.5_ENST00000418968.3_RNA	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CAGATGCAAGGGCCAGTGATG	0.408													ENSG00000078098																																					0													122.0	106.0	111.0					2																	163031447		2203	4300	6503	SO:0001819	synonymous_variant	0			-	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1899C>A	2.37:g.163031447G>T				Silent	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9	p.A633	ENST00000188790.4	37	c.1899	CCDS33311.1	2																																																																																			-	FAP	-	pfam_Peptidase_S9		0.408	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAP	HGNC	protein_coding	OTTHUMT00000332852.2	0	0		42	42		0.00		G			163031447	-1	4		29		tier1	no_errors	ENST00000188790	ensembl	human	known	74_37	silent	12.12		SNP	1.000	T	4	29
KIAA0895	23366	genome.wustl.edu	37	7	36406403	36406403	+	Intron	SNP	G	G	A			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr7:36406403G>A	ENST00000297063.6	-	3	229				KIAA0895_ENST00000415803.2_Nonsense_Mutation_p.R17*|KIAA0895_ENST00000453212.1_Intron|KIAA0895_ENST00000436884.1_Intron|KIAA0895_ENST00000480192.1_Intron|KIAA0895_ENST00000440378.1_Intron|KIAA0895_ENST00000317020.6_Intron|KIAA0895_ENST00000338533.5_Nonsense_Mutation_p.R17*	NM_001100425.1	NP_001093895.1	Q8NCT3	K0895_HUMAN	KIAA0895											breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CGAAGGGGTCGGGGCGCAGGG	0.687													ENSG00000164542																																					0																																										SO:0001627	intron_variant	0			-	BC028678	CCDS43570.1, CCDS47573.1, CCDS56482.1, CCDS56483.1, CCDS56484.1, CCDS75583.1	7p14.2	2008-11-27			ENSG00000164542	ENSG00000164542			22206	protein-coding gene	gene with protein product							Standard	NM_015314		Approved		uc003tfd.2	Q8NCT3	OTTHUMG00000154939	ENST00000297063.6:c.179-9204C>T	7.37:g.36406403G>A			B4DF35|B7ZLT4|B9EGB9|O94969|Q0VGC1|Q7Z4L2	Nonsense_Mutation	SNP	pfam_DUF1704	p.R17*	ENST00000297063.6	37	c.49	CCDS43570.1	7	.	.	.	.	.	.	.	.	.	.	G	26.4	4.737699	0.89573	.	.	ENSG00000164542	ENST00000338533;ENST00000415803	.	.	.	2.92	-5.85	0.02311	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.9123	0.05740	0.1027:0.1789:0.3949:0.3236	.	.	.	.	X	17	.	ENSP00000344805:R17X	R	-	1	2	KIAA0895	36372928	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.955000	0.00326	-3.739000	0.00113	-1.312000	0.01307	CGA	-	KIAA0895	-	NULL		0.687	KIAA0895-001	KNOWN	basic|CCDS	protein_coding	KIAA0895	HGNC	protein_coding	OTTHUMT00000337717.1	0	0		21	21		0.00		G	NM_015314		36406403	-1	4		24		tier1	no_errors	ENST00000338533	ensembl	human	known	74_37	nonsense	14.29		SNP	0.000	A	4	24
MERTK	10461	genome.wustl.edu	37	2	112687051	112687051	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr2:112687051G>A	ENST00000295408.4	+	2	673	c.416G>A	c.(415-417)gGg>gAg	p.G139E	MERTK_ENST00000409780.1_Intron|MERTK_ENST00000421804.2_Missense_Mutation_p.G139E|RN7SL297P_ENST00000483161.2_RNA			Q12866	MERTK_HUMAN	MER proto-oncogene, tyrosine kinase	139	Ig-like C2-type 1.				apoptotic cell clearance (GO:0043277)|blood coagulation (GO:0007596)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|leukocyte migration (GO:0050900)|natural killer cell differentiation (GO:0001779)|negative regulation of lymphocyte activation (GO:0051250)|peptidyl-tyrosine phosphorylation (GO:0018108)|phagocytosis (GO:0006909)|platelet activation (GO:0030168)|positive regulation of phagocytosis (GO:0050766)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|retina development in camera-type eye (GO:0060041)|secretion by cell (GO:0032940)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|rhabdomere (GO:0016028)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GAATTGCTTGGGGCACATCAT	0.358													ENSG00000153208																																					0													120.0	108.0	112.0					2																	112687051		2203	4300	6503	SO:0001583	missense	0			-	U08023	CCDS2094.1	2q14.1	2014-06-26	2014-06-26		ENSG00000153208	ENSG00000153208		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7027	protein-coding gene	gene with protein product		604705	"""c-mer proto-oncogene tyrosine kinase"""			8086340, 10343112	Standard	XM_005263565		Approved	mer, RP38	uc002thk.1	Q12866	OTTHUMG00000131278	ENST00000295408.4:c.416G>A	2.37:g.112687051G>A	ENSP00000295408:p.Gly139Glu		Q9HBB4	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Rhodanese-like_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.G139E	ENST00000295408.4	37	c.416	CCDS2094.1	2	.	.	.	.	.	.	.	.	.	.	G	10.80	1.452738	0.26074	.	.	ENSG00000153208	ENST00000295408;ENST00000421804	T;T	0.64085	-0.08;-0.08	4.37	2.56	0.30785	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.34133	U	0.004223	T	0.48554	0.1506	L	0.45581	1.43	0.28497	N	0.914213	B	0.26935	0.164	B	0.25614	0.062	T	0.37103	-0.9720	10	0.30854	T	0.27	-12.4491	6.0144	0.19594	0.3199:0.0:0.6801:0.0	.	139	Q12866	MERTK_HUMAN	E	139	ENSP00000295408:G139E;ENSP00000389152:G139E	ENSP00000295408:G139E	G	+	2	0	MERTK	112403522	0.916000	0.31088	0.993000	0.49108	0.989000	0.77384	1.126000	0.31344	0.471000	0.27319	0.557000	0.71058	GGG	-	MERTK	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom		0.358	MERTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MERTK	HGNC	protein_coding	OTTHUMT00000254046.2	0	0		31	31		0.00		G			112687051	+1	4		21		tier1	no_errors	ENST00000295408	ensembl	human	known	74_37	missense	16.00		SNP	0.940	A	4	21
CACNA1A	773	genome.wustl.edu	37	19	13446677	13446677	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr19:13446677G>C	ENST00000360228.5	-	7	1024	c.1025C>G	c.(1024-1026)cCc>cGc	p.P342R	CACNA1A_ENST00000573710.2_Missense_Mutation_p.P342R	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	342					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	GATGATGAGGGGGATGAAGTA	0.517													ENSG00000141837																																					0													95.0	96.0	96.0					19																	13446677		2078	4216	6294	SO:0001583	missense	0			-	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.1025C>G	19.37:g.13446677G>C	ENSP00000353362:p.Pro342Arg		J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su	p.P342R	ENST00000360228.5	37	c.1025	CCDS45998.1	19	.	.	.	.	.	.	.	.	.	.	G	17.74	3.464878	0.63513	.	.	ENSG00000141837	ENST00000360228;ENST00000418012;ENST00000357018;ENST00000325084	D	0.98400	-4.91	5.08	5.08	0.68730	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99042	0.9672	M	0.86805	2.84	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.99731	1.1012	10	0.87932	D	0	.	17.6115	0.88055	0.0:0.0:1.0:0.0	.	342;342	O00555;Q9NS88	CAC1A_HUMAN;.	R	342	ENSP00000353362:P342R	ENSP00000317661:P342R	P	-	2	0	CACNA1A	13307677	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.130000	0.94437	2.521000	0.84997	0.650000	0.86243	CCC	-	CAC1A	-	pfam_Ion_trans_dom		0.517	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	CAC1A	HGNC	protein_coding	OTTHUMT00000104062.2	0	0		75	75		0.00		G	NM_000068		13446677	-1	14		57		tier1	no_errors	ENST00000360228	ensembl	human	known	74_37	missense	19.72		SNP	1.000	C	14	57
TTN	7273	genome.wustl.edu	37	2	179554618	179554618	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr2:179554618C>A	ENST00000591111.1	-	120	31041	c.30817G>T	c.(30817-30819)Gag>Tag	p.E10273*	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Nonsense_Mutation_p.E10590*|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E9346*|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGGCACCTCTGGGACTTAA	0.388													ENSG00000155657																																					0													155.0	148.0	150.0					2																	179554618		1834	4081	5915	SO:0001587	stop_gained	0			-	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.30817G>T	2.37:g.179554618C>A	ENSP00000465570:p.Glu10273*		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom	p.E9346*	ENST00000591111.1	37	c.28036		2	.	.	.	.	.	.	.	.	.	.	C	35	5.570193	0.96540	.	.	ENSG00000155657	ENST00000342992;ENST00000414766;ENST00000473181	.	.	.	5.29	5.29	0.74685	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	12.6229	0.56614	0.0:0.9237:0.0:0.0762	.	.	.	.	X	9346;468;100	.	ENSP00000343764:E9346X	E	-	1	0	TTN	179262863	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.449000	0.52950	2.629000	0.89072	0.561000	0.74099	GAG	-	TTN	-	pfam_PPAK_motif,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.388	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	0	0		28	28		0.00		C	NM_133378		179554618	-1	3		13		tier1	no_errors	ENST00000342992	ensembl	human	known	74_37	nonsense	18.75		SNP	1.000	A	3	13
CELSR1	9620	genome.wustl.edu	37	22	46782439	46782439	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr22:46782439C>A	ENST00000262738.3	-	19	6598	c.6599G>T	c.(6598-6600)aGg>aTg	p.R2200M		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2200					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCACGCCGCCCTGGTGGCTGG	0.706													ENSG00000075275																																					0													12.0	13.0	13.0					22																	46782439		2194	4287	6481	SO:0001583	missense	0			-	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.6599G>T	22.37:g.46782439C>A	ENSP00000262738:p.Arg2200Met		O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Missense_Mutation	SNP	pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like	p.R2200M	ENST00000262738.3	37	c.6599	CCDS14076.1	22	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790544	0.50102	.	.	ENSG00000075275	ENST00000262738	T	0.10192	2.9	5.0	1.64	0.23874	Domain of unknown function DUF3497 (1);	0.360454	0.23993	U	0.042544	T	0.20292	0.0488	L	0.61218	1.895	0.48571	D	0.999671	D;P	0.64830	0.994;0.953	D;P	0.70935	0.971;0.796	T	0.09292	-1.0681	10	0.51188	T	0.08	.	0.9432	0.01360	0.1571:0.3755:0.1535:0.3139	.	521;2200	B7Z7U7;Q9NYQ6	.;CELR1_HUMAN	M	2200	ENSP00000262738:R2200M	ENSP00000262738:R2200M	R	-	2	0	CELSR1	45161103	0.641000	0.27251	0.027000	0.17364	0.415000	0.31203	1.034000	0.30204	0.122000	0.18314	0.655000	0.94253	AGG	-	CELSR1	-	pfam_DUF3497		0.706	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR1	HGNC	protein_coding	OTTHUMT00000318037.1	0	0		54	54		0.00		C	NM_014246		46782439	-1	5		33		tier1	no_errors	ENST00000262738	ensembl	human	known	74_37	missense	13.16		SNP	0.740	A	5	33
PPARGC1B	133522	genome.wustl.edu	37	5	149227102	149227102	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr5:149227102C>T	ENST00000309241.5	+	12	3085	c.3053C>T	c.(3052-3054)gCc>gTc	p.A1018V	PPARGC1B_ENST00000403750.1_Missense_Mutation_p.A954V|PPARGC1B_ENST00000394320.3_3'UTR|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.A979V	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	1018					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CTGAAAGAGGCCCAGCAGAGC	0.468													ENSG00000155846																																					0													139.0	135.0	136.0					5																	149227102		2203	4300	6503	SO:0001583	missense	0			-	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.3053C>T	5.37:g.149227102C>T	ENSP00000312649:p.Ala1018Val		A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.A1018V	ENST00000309241.5	37	c.3053	CCDS4298.1	5	.	.	.	.	.	.	.	.	.	.	C	28.8	4.954362	0.92726	.	.	ENSG00000155846	ENST00000360453;ENST00000309241;ENST00000403750	T;T;T	0.18338	2.23;2.25;2.22	5.5	5.5	0.81552	.	0.000000	0.64402	D	0.000001	T	0.45397	0.1340	M	0.74389	2.26	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.76575	0.988;0.988;0.972	T	0.33033	-0.9884	10	0.59425	D	0.04	-25.502	19.7538	0.96281	0.0:1.0:0.0:0.0	.	997;979;1018	Q86YN6-2;Q86YN6-5;Q86YN6	.;.;PRGC2_HUMAN	V	979;1018;954	ENSP00000353638:A979V;ENSP00000312649:A1018V;ENSP00000384403:A954V	ENSP00000312649:A1018V	A	+	2	0	PPARGC1B	149207295	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.079000	0.76829	2.739000	0.93911	0.561000	0.74099	GCC	-	PPARGC1B	-	NULL		0.468	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPARGC1B	HGNC	protein_coding	OTTHUMT00000252334.1	0	0		46	46		0.00		C	NM_133263		149227102	+1	11		31		tier1	no_errors	ENST00000309241	ensembl	human	known	74_37	missense	26.19		SNP	1.000	T	11	31
LAMA3	3909	genome.wustl.edu	37	18	21413940	21413940	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr18:21413940G>T	ENST00000313654.9	+	24	3213	c.2972G>T	c.(2971-2973)aGc>aTc	p.S991I	LAMA3_ENST00000399516.3_Missense_Mutation_p.S991I	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	991	Domain IV 1 (domain IV B).				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					AACATTTACAGCTGCAACTAC	0.498													ENSG00000053747																																					0													162.0	161.0	161.0					18																	21413940		2006	4173	6179	SO:0001583	missense	0			-	L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.2972G>T	18.37:g.21413940G>T	ENSP00000324532:p.Ser991Ile		B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.S991I	ENST00000313654.9	37	c.2972	CCDS42419.1	18	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079557	0.55753	.	.	ENSG00000053747	ENST00000313654;ENST00000399516;ENST00000416669	T;T	0.19250	2.17;2.16	5.76	4.9	0.64082	.	.	.	.	.	T	0.44829	0.1312	M	0.77616	2.38	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.73380	0.98;0.963	T	0.38929	-0.9638	9	0.41790	T	0.15	.	11.5608	0.50776	0.145:0.0:0.855:0.0	.	991;991	Q6VU67;Q16787	.;LAMA3_HUMAN	I	991;991;989	ENSP00000324532:S991I;ENSP00000382432:S991I	ENSP00000324532:S991I	S	+	2	0	LAMA3	19667938	1.000000	0.71417	1.000000	0.80357	0.718000	0.41266	4.525000	0.60559	1.456000	0.47831	-0.373000	0.07131	AGC	-	LAMA3	-	NULL		0.498	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	HGNC	protein_coding	OTTHUMT00000254824.3	0	0		36	36		0.00		G	NM_000227, NM_198129		21413940	+1	4		13		tier1	no_errors	ENST00000313654	ensembl	human	known	74_37	missense	23.53		SNP	1.000	T	4	13
DIEXF	27042	genome.wustl.edu	37	1	210006614	210006614	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr1:210006614C>T	ENST00000491415.2	+	4	530	c.473C>T	c.(472-474)aCa>aTa	p.T158I		NM_014388.6	NP_055203.4	Q68CQ4	DIEXF_HUMAN	digestive organ expansion factor homolog (zebrafish)	158	Glu-rich.				multicellular organismal development (GO:0007275)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(15)|large_intestine(7)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(2)	53						GAAGAGTTCACAGATGCAAAA	0.468													ENSG00000117597																																					0													109.0	99.0	102.0					1																	210006614		2203	4300	6503	SO:0001583	missense	0			-	BC022964	CCDS1493.1	1q32.2	2011-08-12	2011-02-16	2011-02-16	ENSG00000117597	ENSG00000117597			28440	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 107"""	C1orf107		16322560	Standard	NM_014388		Approved	MGC29875, DEF, UTP25	uc001hhr.2	Q68CQ4	OTTHUMG00000036654	ENST00000491415.2:c.473C>T	1.37:g.210006614C>T	ENSP00000419005:p.Thr158Ile		O75992|Q4VY00|Q63HL9	Missense_Mutation	SNP	pfam_Digest_organ_expansion_fac-prd,superfamily_P-loop_NTPase	p.T158I	ENST00000491415.2	37	c.473	CCDS1493.1	1	.	.	.	.	.	.	.	.	.	.	C	11.72	1.722262	0.30503	.	.	ENSG00000117597	ENST00000491415	T	0.44881	0.91	5.68	4.77	0.60923	.	0.150212	0.64402	D	0.000016	T	0.37652	0.1011	L	0.47716	1.5	0.45995	D	0.998807	B	0.11235	0.004	B	0.09377	0.004	T	0.13019	-1.0525	10	0.35671	T	0.21	-5.3028	14.4437	0.67336	0.0:0.9296:0.0:0.0704	.	158	Q68CQ4	DIEXF_HUMAN	I	158	ENSP00000419005:T158I	ENSP00000419005:T158I	T	+	2	0	DIEXF	208073237	0.998000	0.40836	1.000000	0.80357	0.335000	0.28730	2.209000	0.42806	1.419000	0.47118	0.650000	0.86243	ACA	-	DIEXF	-	NULL		0.468	DIEXF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIEXF	HGNC	protein_coding	OTTHUMT00000089127.2	0	0		34	34		0.00		C	NM_014388		210006614	+1	4		42		tier1	no_errors	ENST00000491415	ensembl	human	known	74_37	missense	8.70		SNP	1.000	T	4	42
ZDHHC11	79844	genome.wustl.edu	37	5	710879	710879	+	Intron	SNP	G	G	A			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr5:710879G>A	ENST00000424784.2	-	14	2007				ZDHHC11B_ENST00000522356.1_5'UTR			Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			ATTTCCCAGTGCTGTGAGCTC	0.522													ENSG00000206077																																					0																																										SO:0001627	intron_variant	0			-	AK023215	CCDS3857.1	5p15.2	2011-02-09			ENSG00000188818	ENSG00000188818		"""Zinc fingers, DHHC-type"""	19158	protein-coding gene	gene with protein product							Standard	NM_024786		Approved	ZNF399, FLJ13153	uc011cma.1	Q9H8X9	OTTHUMG00000090319	ENST00000424784.2:c.1236+44C>T	5.37:g.710879G>A			Q6UWR9	R	SNP	-	NULL	ENST00000424784.2	37	NULL	CCDS3857.1	5																																																																																			-	ZDHHC11B	-	-		0.522	ZDHHC11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC11B	HGNC	protein_coding		0	0		49	49		0.00		G	NM_024786		710879	-1	6		44		tier1	no_errors	ENST00000522356	ensembl	human	known	74_37	rna	12.00		SNP	0.034	A	6	44
MGST1	4257	genome.wustl.edu	37	12	16562210	16562210	+	Intron	SNP	G	G	A			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr12:16562210G>A	ENST00000359720.3	+	1	778				AC007528.1_ENST00000401104.1_RNA			P10620	MGST1_HUMAN	microsomal glutathione S-transferase 1						cellular response to lipid hydroperoxide (GO:0071449)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|Leydig cell differentiation (GO:0033327)|oxidation-reduction process (GO:0055114)|protein homotrimerization (GO:0070207)|response to drug (GO:0042493)|response to lipopolysaccharide (GO:0032496)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	apical part of cell (GO:0045177)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)	glutathione binding (GO:0043295)|glutathione peroxidase activity (GO:0004602)|glutathione transferase activity (GO:0004364)			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9		Hepatocellular(102;0.121)			Glutathione(DB00143)	gtgtatgtgtgtgtttgtgtg	0.363													ENSG00000215923																																					0																																										SO:0001627	intron_variant	0			-	U46494	CCDS8677.1, CCDS58209.1	12p12.3-p12.1	2012-06-21			ENSG00000008394	ENSG00000008394	2.5.1.18	"""Glutathione S-transferases / Microsomal"""	7061	protein-coding gene	gene with protein product		138330		GST12			Standard	NM_145792		Approved	MGST-I	uc031qgl.1	P10620	OTTHUMG00000168816	ENST00000359720.3:c.778+25672G>A	12.37:g.16562210G>A			A8K533|G5EA53	R	SNP	-	NULL	ENST00000359720.3	37	NULL		12																																																																																			-	AC007528.1	-	-		0.363	MGST1-016	KNOWN	basic	processed_transcript	ENSG00000215923	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000401275.1	0	0		28	28		0.00		G	NM_145791		16562210	-1	3		24		tier1	no_errors	ENST00000401104	ensembl	human	novel	74_37	rna	11.11		SNP	0.015	A	3	24
TTI1	9675	genome.wustl.edu	37	20	36640746	36640746	+	Silent	SNP	A	A	T			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr20:36640746A>T	ENST00000373448.2	-	3	1711	c.1473T>A	c.(1471-1473)gtT>gtA	p.V491V	TTI1_ENST00000449821.1_Silent_p.V491V|TTI1_ENST00000487362.1_Intron|TTI1_ENST00000373447.3_Silent_p.V491V	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	491					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						GTAGCTGACAAACCTGCCTCA	0.448													ENSG00000101407																																					0													60.0	65.0	64.0					20																	36640746		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.1473T>A	20.37:g.36640746A>T			D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Silent	SNP	superfamily_ARM-type_fold,pirsf_UCP005250	p.V491	ENST00000373448.2	37	c.1473	CCDS13300.1	20																																																																																			-	TTI1	-	superfamily_ARM-type_fold,pirsf_UCP005250		0.448	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTI1	HGNC	protein_coding	OTTHUMT00000079138.2	0	0		32	32		0.00		A	NM_014657		36640746	-1	4		25		tier1	no_errors	ENST00000373447	ensembl	human	known	74_37	silent	13.79		SNP	0.417	T	4	25
RTTN	25914	genome.wustl.edu	37	18	67671407	67671407	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr18:67671407G>A	ENST00000255674.6	-	49	6947	c.6661C>T	c.(6661-6663)Cag>Tag	p.Q2221*	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2221					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TTAAGGAGCTGCACGAGGTTT	0.428													ENSG00000176225																																					0													144.0	139.0	140.0					18																	67671407		1886	4118	6004	SO:0001587	stop_gained	0			-	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.6661C>T	18.37:g.67671407G>A	ENSP00000255674:p.Gln2221*		Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Nonsense_Mutation	SNP	superfamily_ARM-type_fold	p.Q2221*	ENST00000255674.6	37	c.6661	CCDS42443.1	18	.	.	.	.	.	.	.	.	.	.	G	48	14.202480	0.99784	.	.	ENSG00000176225	ENST00000255674	.	.	.	5.12	5.12	0.69794	.	0.088069	0.47852	D	0.000220	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	16.336	0.83060	0.0:0.0:1.0:0.0	.	.	.	.	X	2221	.	ENSP00000255674:Q2221X	Q	-	1	0	RTTN	65822387	1.000000	0.71417	0.357000	0.25798	0.765000	0.43378	3.701000	0.54793	2.360000	0.80028	0.585000	0.79938	CAG	-	RTTN	-	NULL		0.428	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	HGNC	protein_coding	OTTHUMT00000442988.1	0	0		51	51		0.00		G	NM_173630		67671407	-1	3		24		tier1	no_errors	ENST00000255674	ensembl	human	known	74_37	nonsense	11.11		SNP	0.956	A	3	24
GPR15	2838	genome.wustl.edu	37	3	98251458	98251458	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr3:98251458T>C	ENST00000284311.3	+	1	716	c.581T>C	c.(580-582)aTa>aCa	p.I194T		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	194					G-protein coupled receptor signaling pathway (GO:0007186)|T cell migration (GO:0072678)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		ATTAAACTCATATGGTCCCTG	0.478													ENSG00000154165																																					0													156.0	143.0	148.0					3																	98251458		2203	4300	6503	SO:0001583	missense	0			-		CCDS2931.1	3q11.2-q13.1	2014-01-30			ENSG00000154165	ENSG00000154165		"""GPCR / Class A : Orphans"""	4469	protein-coding gene	gene with protein product		601166				8838812	Standard	NM_005290		Approved		uc011bgy.3	P49685	OTTHUMG00000160017	ENST00000284311.3:c.581T>C	3.37:g.98251458T>C	ENSP00000284311:p.Ile194Thr		Q3MIL4|Q6ISN6	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srg,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ATII_rcpt	p.I194T	ENST00000284311.3	37	c.581	CCDS2931.1	3	.	.	.	.	.	.	.	.	.	.	T	0.022	-1.416154	0.01136	.	.	ENSG00000154165	ENST00000284311	T	0.38401	1.14	4.74	-0.795	0.10915	GPCR, rhodopsin-like superfamily (1);	0.861135	0.10073	N	0.719506	T	0.16214	0.0390	N	0.04805	-0.155	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28808	-1.0032	10	0.22706	T	0.39	2.5421	8.6081	0.33786	0.0:0.5207:0.0:0.4793	.	194	P49685	GPR15_HUMAN	T	194	ENSP00000284311:I194T	ENSP00000284311:I194T	I	+	2	0	GPR15	99734148	0.000000	0.05858	0.000000	0.03702	0.041000	0.13682	-0.734000	0.04893	-0.219000	0.10003	-0.959000	0.02639	ATA	-	GPR15	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srg,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM		0.478	GPR15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR15	HGNC	protein_coding	OTTHUMT00000358907.1	0	0		39	39		0.00		T			98251458	+1	4		32		tier1	no_errors	ENST00000284311	ensembl	human	known	74_37	missense	11.11		SNP	0.000	C	4	32
MIA	8190	genome.wustl.edu	37	19	41281484	41281484	+	Silent	SNP	T	T	C			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr19:41281484T>C	ENST00000263369.3	+	1	203	c.37T>C	c.(37-39)Ttg>Ctg	p.L13L	MIA-RAB4B_ENST00000600729.1_Silent_p.L13L|MIA_ENST00000597784.1_Silent_p.L13L|RAB4B-EGLN2_ENST00000594136.1_5'Flank|MIA_ENST00000594436.1_Silent_p.L13L|RAB4B_ENST00000594800.1_5'Flank|RAB4B_ENST00000357052.2_5'Flank	NM_006533.3	NP_006524.1	Q16674	MIA_HUMAN	melanoma inhibitory activity	13					cell proliferation (GO:0008283)	extracellular space (GO:0005615)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)	GBM - Glioblastoma multiforme(1328;0.0199)		TGTCATCATCTTGCTGTCTGC	0.612													ENSG00000261857																																					0													183.0	155.0	164.0					19																	41281484		2203	4300	6503	SO:0001819	synonymous_variant	0			-	X75450	CCDS12566.1	19q13.2	2012-10-15			ENSG00000261857	ENSG00000261857			7076	protein-coding gene	gene with protein product		601340				7923218, 8661134	Standard	NM_006533		Approved	CD-RAP	uc021uuu.1	Q16674		ENST00000263369.3:c.37T>C	19.37:g.41281484T>C			Q6FHV3	Silent	SNP	pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.L13	ENST00000263369.3	37	c.37	CCDS12566.1	19																																																																																			-	MIA	-	NULL		0.612	MIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIA	HGNC	protein_coding	OTTHUMT00000463162.1	0	0		31	31		0.00		T			41281484	+1	4		35		tier1	no_errors	ENST00000263369	ensembl	human	known	74_37	silent	10.26		SNP	0.940	C	4	35
PEX13	5194	genome.wustl.edu	37	2	61259221	61259221	+	Missense_Mutation	SNP	T	T	A			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr2:61259221T>A	ENST00000295030.5	+	2	798	c.760T>A	c.(760-762)Ttg>Atg	p.L254M		NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13	254					cerebral cortex cell migration (GO:0021795)|fatty acid alpha-oxidation (GO:0001561)|locomotory behavior (GO:0007626)|microtubule-based peroxisome localization (GO:0060152)|neuron migration (GO:0001764)|protein import into peroxisome matrix, docking (GO:0016560)|suckling behavior (GO:0001967)	integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)				endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			TTGGAAACTATTGTCTACTCA	0.398													ENSG00000162928																																					0													121.0	108.0	112.0					2																	61259221		2203	4300	6503	SO:0001583	missense	0			-	U71374	CCDS1866.1	2p16.1	2008-08-26	2008-08-26		ENSG00000162928	ENSG00000162928			8855	protein-coding gene	gene with protein product		601789	"""peroxisome biogenesis factor 13"""			9878256	Standard	NM_002618		Approved		uc002sau.4	Q92968	OTTHUMG00000129422	ENST00000295030.5:c.760T>A	2.37:g.61259221T>A	ENSP00000295030:p.Leu254Met		B2RCS1	Missense_Mutation	SNP	pfam_Peroxin-13_N,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain	p.L254M	ENST00000295030.5	37	c.760	CCDS1866.1	2	.	.	.	.	.	.	.	.	.	.	T	16.90	3.250380	0.59212	.	.	ENSG00000162928	ENST00000295030	T	0.79247	-1.25	5.6	3.79	0.43588	Peroxin 13, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.84772	0.5546	M	0.79475	2.455	0.80722	D	1	D	0.63046	0.992	P	0.60117	0.869	D	0.84171	0.0434	9	.	.	.	-9.5051	11.3809	0.49757	0.0:0.8508:0.0:0.1492	.	254	Q92968	PEX13_HUMAN	M	254	ENSP00000295030:L254M	.	L	+	1	2	PEX13	61112725	1.000000	0.71417	0.987000	0.45799	0.890000	0.51754	1.545000	0.36169	0.685000	0.31468	-0.242000	0.12053	TTG	-	PEX13	-	pfam_Peroxin-13_N		0.398	PEX13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX13	HGNC	protein_coding	OTTHUMT00000251581.3	0	0		42	42		0.00		T	NM_002618		61259221	+1	4		27		tier1	no_errors	ENST00000295030	ensembl	human	known	74_37	missense	12.90		SNP	1.000	A	4	27
UBB	7314	genome.wustl.edu	37	17	16285600	16285600	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr17:16285600G>A	ENST00000395837.1	+	2	560	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	UBB_ENST00000302182.3_Missense_Mutation_p.E127K|UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|UBB_ENST00000395839.1_Missense_Mutation_p.E127K|RP11-138I1.4_ENST00000583934.1_RNA	NM_001281718.1|NM_001281720.1	NP_001268647.1|NP_001268649.1	P0CG47	UBB_HUMAN	ubiquitin B	127	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.		GMQIFVKTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQ QRLIFAGKQLEDGRTLSDYNIQKESTLHLVLRLRGGMQIFV KTLTGKTITLEVEPSDTIENVKAKIQDKEGIPPDQQRLIFA GKQLEDGRTLSDYNIQKESTLHLVLRLRGGC -> YADLRE DPDRQDHHPGSGAQ (in UBB(+1); loss of polyubiquitination; impairs the ubiquitin-proteasome pathway; refractory to disassembly by DUBs; slow degradation by UCHL3).		activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		CAAGCAGCTGGAAGATGGCCG	0.547													ENSG00000170315																									Melanoma(163;1126 3406 34901)												0													84.0	85.0	84.0					17																	16285600		2203	4298	6501	SO:0001583	missense	0			-		CCDS11177.1	17p12-p11.2	2010-11-25			ENSG00000170315	ENSG00000170315			12463	protein-coding gene	gene with protein product	"""polyubiquitin B"""	191339				2154095	Standard	NM_018955		Approved	MGC8385, FLJ25987	uc002gpx.3	P0CG47	OTTHUMG00000058987	ENST00000395837.1:c.379G>A	17.37:g.16285600G>A	ENSP00000379178:p.Glu127Lys		P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,prints_Ubiquitin,pfscan_Ubiquitin_supergroup	p.E127K	ENST00000395837.1	37	c.379	CCDS11177.1	17	.	.	.	.	.	.	.	.	.	.	G	16.28	3.078273	0.55753	.	.	ENSG00000170315	ENST00000302182;ENST00000395839;ENST00000395837	T;T;T	0.28666	1.6;1.6;1.6	4.13	4.13	0.48395	Ubiquitin supergroup (1);Ubiquitin conserved site (1);Ubiquitin (2);	0.000000	0.52532	U	0.000068	T	0.29423	0.0733	L	0.45422	1.42	0.80722	D	1	B	0.25850	0.136	B	0.25614	0.062	T	0.21793	-1.0235	10	0.87932	D	0	.	15.8221	0.78662	0.0:0.0:1.0:0.0	.	127	P0CG47	UBB_HUMAN	K	127	ENSP00000304697:E127K;ENSP00000379180:E127K;ENSP00000379178:E127K	ENSP00000304697:E127K	E	+	1	0	UBB	16226325	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.736000	0.91554	2.043000	0.60533	0.644000	0.83932	GAA	-	UBB	-	pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup		0.547	UBB-002	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	UBB	HGNC	protein_coding	OTTHUMT00000130459.1	0	0		113	113		0.00		G	NM_018955		16285600	+1	8		72		tier1	no_errors	ENST00000302182	ensembl	human	novel	74_37	missense	9.88		SNP	1.000	A	8	72
ABCA13	154664	genome.wustl.edu	37	7	48411945	48411945	+	Missense_Mutation	SNP	G	G	A	rs374380327		TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr7:48411945G>A	ENST00000435803.1	+	33	11008	c.10984G>A	c.(10984-10986)Gtc>Atc	p.V3662I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3662					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)	p.V3662I(1)|p.V3607I(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GATGTCAGTCGTCATGCTGAG	0.458													ENSG00000179869																																					2	Substitution - Missense(2)	breast(2)						G	ILE/VAL	0,4064		0,0,2032	285.0	277.0	279.0		10984	-0.8	0.0	7		279	1,8397		0,1,4198	no	missense	ABCA13	NM_152701.3	29	0,1,6230	AA,AG,GG		0.0119,0.0,0.0080	benign	3662/5059	48411945	1,12461	2032	4199	6231	SO:0001583	missense	0			-	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.10984G>A	7.37:g.48411945G>A	ENSP00000411096:p.Val3662Ile		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.V3662I	ENST00000435803.1	37	c.10984	CCDS47584.1	7	.	.	.	.	.	.	.	.	.	.	G	5.218	0.225737	0.09916	0.0	1.19E-4	ENSG00000179869	ENST00000435803	T	0.80738	-1.41	5.77	-0.831	0.10789	.	0.447820	0.18698	N	0.133673	T	0.52789	0.1756	N	0.04090	-0.28	0.32972	D	0.522435	B;B	0.28470	0.061;0.213	B;B	0.23018	0.019;0.043	T	0.53982	-0.8361	10	0.06757	T	0.87	.	11.6751	0.51425	0.6482:0.0:0.3518:0.0	.	1364;3662	Q86UQ4-3;Q86UQ4	.;ABCAD_HUMAN	I	3662	ENSP00000411096:V3662I	ENSP00000411096:V3662I	V	+	1	0	ABCA13	48382491	0.001000	0.12720	0.008000	0.14137	0.971000	0.66376	-0.134000	0.10436	-0.381000	0.07882	0.655000	0.94253	GTC	-	ABCA13	-	NULL		0.458	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA13	HGNC	protein_coding	OTTHUMT00000341964.2	0	0		35	35		0.00		G	NM_152701		48411945	+1	6		49		tier1	no_errors	ENST00000435803	ensembl	human	known	74_37	missense	10.91		SNP	0.009	A	6	49
UBE3C	9690	genome.wustl.edu	37	7	157013394	157013394	+	Silent	SNP	C	C	G			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr7:157013394C>G	ENST00000348165.5	+	15	2286	c.1926C>G	c.(1924-1926)ctC>ctG	p.L642L		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	642					protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TCACTCAGCTCTATGTGCCAG	0.562													ENSG00000009335																																					0													113.0	90.0	98.0					7																	157013394		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.1926C>G	7.37:g.157013394C>G			A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Silent	SNP	pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.L642	ENST00000348165.5	37	c.1926	CCDS34789.1	7																																																																																			-	UBE3C	-	NULL		0.562	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3C	HGNC	protein_coding	OTTHUMT00000348108.1	0	0		41	41		0.00		C	NM_014671		157013394	+1	10		48		tier1	no_errors	ENST00000348165	ensembl	human	known	74_37	silent	17.24		SNP	0.970	G	10	48
KIF9	64147	genome.wustl.edu	37	3	47281372	47281372	+	Intron	SNP	G	G	A	rs140593426		TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr3:47281372G>A	ENST00000265529.3	-	18	2605				KIF9_ENST00000444589.2_Intron|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000352910.4_Intron|KIF9_ENST00000452770.2_Intron|KIF9_ENST00000335044.2_Intron			Q9HAQ2	KIF9_HUMAN	kinesin family member 9						ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|extracellular matrix disassembly (GO:0022617)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle disassembly (GO:1903008)|regulation of podosome assembly (GO:0071801)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|podosome (GO:0002102)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|protein dimerization activity (GO:0046983)			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GTGATTTAGCGAGGGAAAGCC	0.512													ENSG00000227398																									Colon(44;962 1147 15977 24541)												0								G	,,	1,4405	2.1+/-5.4	0,1,2202	126.0	118.0	121.0		,,	-4.9	0.0	3	dbSNP_134	121	0,8600		0,0,4300	no	intron,intron,intron	KIF9	NM_001134878.1,NM_022342.4,NM_182902.3	,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,	,,	47281372	1,13005	2203	4300	6503	SO:0001627	intron_variant	0			-	AF311212	CCDS2751.1, CCDS2752.1	3p21.31	2008-03-03			ENSG00000088727	ENSG00000088727		"""Kinesins"""	16666	protein-coding gene	gene with protein product		607910				11483511	Standard	NM_022342		Approved	MGC104186	uc003cqx.3	Q9HAQ2	OTTHUMG00000133512	ENST00000265529.3:c.1924+918C>T	3.37:g.47281372G>A			Q86Z28|Q9H8A4	R	SNP	-	NULL	ENST00000265529.3	37	NULL	CCDS2752.1	3																																																																																			rs140593426	KIF9-AS1	-	-		0.512	KIF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF9-AS1	HGNC	protein_coding	OTTHUMT00000257475.2	0	0		44	44		0.00		G			47281372	+1	7		38		tier1	no_errors	ENST00000429315	ensembl	human	known	74_37	rna	15.56		SNP	0.000	A	7	38
CANX	821	genome.wustl.edu	37	5	179132824	179132824	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr5:179132824G>T	ENST00000247461.4	+	2	342	c.142G>T	c.(142-144)Gat>Tat	p.D48Y	CANX_ENST00000512607.2_5'UTR|CANX_ENST00000504734.1_Missense_Mutation_p.D48Y|CANX_ENST00000415618.2_Missense_Mutation_p.D83Y|CANX_ENST00000452673.2_Missense_Mutation_p.D48Y	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	48					aging (GO:0007568)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|chaperone-mediated protein folding (GO:0061077)|clathrin-mediated endocytosis (GO:0072583)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein secretion (GO:0009306)|synaptic vesicle endocytosis (GO:0048488)	axon (GO:0030424)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)|ribosome (GO:0005840)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Antihemophilic Factor(DB00025)|Tenecteplase(DB00031)	CTCAAAACCAGATACCACTGC	0.403													ENSG00000127022																																					0													321.0	273.0	289.0					5																	179132824		2203	4300	6503	SO:0001583	missense	0			-	L18887	CCDS4447.1	5q35	2008-07-18			ENSG00000127022	ENSG00000127022			1473	protein-coding gene	gene with protein product	"""major histocompatibility complex class I antigen-binding protein p88"""	114217				1326756, 8136357	Standard	NM_001746		Approved	CNX, IP90, P90	uc003mkl.3	P27824	OTTHUMG00000130910	ENST00000247461.4:c.142G>T	5.37:g.179132824G>T	ENSP00000247461:p.Asp48Tyr		B2R5V8|B4DGP8|B4E2T8|D3DWQ3|D6R9K3	Missense_Mutation	SNP	pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex	p.D83Y	ENST00000247461.4	37	c.247	CCDS4447.1	5	.	.	.	.	.	.	.	.	.	.	G	15.08	2.728395	0.48833	.	.	ENSG00000127022	ENST00000514383;ENST00000502296;ENST00000504734;ENST00000415618;ENST00000452673;ENST00000247461;ENST00000502498;ENST00000507307;ENST00000513246;ENST00000354394	T;T;T;T;D	0.83506	0.68;0.66;0.68;0.68;-1.73	4.33	4.33	0.51752	.	1.080430	0.07024	N	0.827298	D	0.85008	0.5599	L	0.29908	0.895	0.80722	D	1	D;D	0.67145	0.996;0.96	P;P	0.56823	0.807;0.695	T	0.79960	-0.1583	10	0.87932	D	0	-13.4696	14.0207	0.64553	0.0:0.0:1.0:0.0	.	83;48	B4DGP8;P27824	.;CALX_HUMAN	Y	48;48;48;83;48;48;48;48;48;40	ENSP00000424063:D48Y;ENSP00000394817:D83Y;ENSP00000391646:D48Y;ENSP00000247461:D48Y;ENSP00000425246:D48Y	ENSP00000247461:D48Y	D	+	1	0	CANX	179065430	1.000000	0.71417	0.995000	0.50966	0.515000	0.34225	4.393000	0.59665	2.376000	0.81061	0.561000	0.74099	GAT	-	CANX	-	NULL		0.403	CANX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CANX	HGNC	protein_coding	OTTHUMT00000253500.2	0	0		36	36		0.00		G	NM_001024649		179132824	+1	4		29		tier1	no_errors	ENST00000415618	ensembl	human	known	74_37	missense	12.12		SNP	0.976	T	4	29
SCGN	10590	genome.wustl.edu	37	6	25661862	25661862	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr6:25661862G>A	ENST00000377961.2	+	3	404	c.236G>A	c.(235-237)cGg>cAg	p.R79Q	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	79	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.					cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GGTCGCATTCGGATGAAAGAG	0.388													ENSG00000079689																																					0													146.0	130.0	135.0					6																	25661862		2203	4300	6503	SO:0001583	missense	0			-	BC000336	CCDS4561.1	6p22.3-p22.1	2013-01-10			ENSG00000079689	ENSG00000079689		"""EF-hand domain containing"""	16941	protein-coding gene	gene with protein product	"""calbindin-like"""	609202				10811645	Standard	NM_006998		Approved	SECRET, DJ501N12.8, SEGN, CALBL	uc003nfb.3	O76038	OTTHUMG00000014409	ENST00000377961.2:c.236G>A	6.37:g.25661862G>A	ENSP00000367197:p.Arg79Gln		A8K0B2|Q5VV44|Q96QV7|Q9UJF6	Missense_Mutation	SNP	smart_EF_hand_dom,pfscan_EF_hand_dom	p.R79Q	ENST00000377961.2	37	c.236	CCDS4561.1	6	.	.	.	.	.	.	.	.	.	.	G	3.088	-0.187544	0.06299	.	.	ENSG00000079689	ENST00000377961	T	0.09163	3.01	3.24	-3.76	0.04359	EF-hand-like domain (1);	0.302232	0.36932	N	0.002338	T	0.00440	0.0014	N	0.00237	-1.79	0.27327	N	0.956875	B	0.02656	0.0	B	0.01281	0.0	T	0.38887	-0.9640	10	0.18276	T	0.48	.	1.18	0.01843	0.4595:0.1393:0.2567:0.1445	.	79	O76038	SEGN_HUMAN	Q	79	ENSP00000367197:R79Q	ENSP00000367197:R79Q	R	+	2	0	SCGN	25769841	0.261000	0.24063	0.031000	0.17742	0.227000	0.25037	0.122000	0.15687	-0.808000	0.04387	-0.383000	0.06682	CGG	-	SCGN	-	NULL		0.388	SCGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCGN	HGNC	protein_coding	OTTHUMT00000040067.1	0	0		45	45		0.00		G			25661862	+1	8		43		tier1	no_errors	ENST00000377961	ensembl	human	known	74_37	missense	15.69		SNP	0.190	A	8	43
NT5DC3	51559	genome.wustl.edu	37	12	104181307	104181307	+	Splice_Site	SNP	T	T	G			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr12:104181307T>G	ENST00000392876.3	-	11	1142		c.e11-2			NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3							cytosol (GO:0005829)|mitochondrion (GO:0005739)|receptor complex (GO:0043235)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						TAAATTACCCTGTAATCAGAG	0.333													ENSG00000111696																																					0													53.0	56.0	55.0					12																	104181307		2203	4300	6503	SO:0001630	splice_region_variant	0			-	AB032786	CCDS41824.1	12q22-q23.1	2006-02-03			ENSG00000111696	ENSG00000111696			30826	protein-coding gene	gene with protein product		611076					Standard	NM_001031701		Approved	TU12B1-TY, FLJ11266	uc010swe.1	Q86UY8	OTTHUMG00000157017	ENST00000392876.3:c.1102-2A>C	12.37:g.104181307T>G			Q9NUM7|Q9P2T2|Q9P2T3	Splice_Site	SNP	-	e11-2	ENST00000392876.3	37	c.1102-2	CCDS41824.1	12	.	.	.	.	.	.	.	.	.	.	T	16.74	3.206828	0.58343	.	.	ENSG00000111696	ENST00000392876	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8089	0.78538	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NT5DC3	102705437	1.000000	0.71417	0.972000	0.41901	0.664000	0.39144	7.415000	0.80131	2.131000	0.65755	0.533000	0.62120	.	-	NT5DC3	-	-		0.333	NT5DC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NT5DC3	HGNC	protein_coding	OTTHUMT00000347118.2	0	0		12	12		0.00		T	NM_016575	Intron	104181307	-1	4		14		tier1	no_errors	ENST00000392876	ensembl	human	known	74_37	splice_site	22.22		SNP	0.999	G	4	14
KANSL1	284058	genome.wustl.edu	37	17	44144936	44144936	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr17:44144936G>T	ENST00000262419.6	-	5	2101	c.1631C>A	c.(1630-1632)cCt>cAt	p.P544H	KANSL1_ENST00000575318.1_Missense_Mutation_p.P544H|KANSL1_ENST00000572904.1_Missense_Mutation_p.P544H|KANSL1_ENST00000432791.1_Missense_Mutation_p.P544H|KANSL1_ENST00000393476.3_De_novo_Start_OutOfFrame|KANSL1_ENST00000574590.1_Missense_Mutation_p.P544H	NM_001193466.1	NP_001180395	Q7Z3B3	KANL1_HUMAN	KAT8 regulatory NSL complex subunit 1	544					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)	histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)		p.P544H(1)									TCCATTGACAGGTCTGAGTGC	0.413													ENSG00000120071																																					1	Substitution - Missense(1)	large_intestine(1)											128.0	114.0	119.0					17																	44144936		2203	4300	6503	SO:0001583	missense	0			-	BX538006	CCDS11503.1, CCDS11503.2, CCDS74084.1	17q21.31	2012-02-20	2012-02-20	2012-02-20	ENSG00000120071	ENSG00000120071			24565	protein-coding gene	gene with protein product	"""centromere protein 36"""	612452	"""KIAA1267"""	KIAA1267		10574462	Standard	NM_015443		Approved	DKFZP727C091, MSL1v1, CENP-36, NSL1	uc002ikd.3	Q7Z3B3		ENST00000262419.6:c.1631C>A	17.37:g.44144936G>T	ENSP00000262419:p.Pro544His		A8K5E4|Q6AW85|Q8IYH1|Q9BRH0|Q9NTE7|Q9UFT0|Q9ULF3	Missense_Mutation	SNP	NULL	p.P544H	ENST00000262419.6	37	c.1631	CCDS11503.1	17	.	.	.	.	.	.	.	.	.	.	G	21.2	4.107479	0.77096	.	.	ENSG00000120071	ENST00000262419;ENST00000432791	T;T	0.51071	0.72;0.72	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.65974	0.2743	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.81914	0.995;0.994	T	0.68372	-0.5426	10	0.66056	D	0.02	-12.832	15.5344	0.75990	0.0:0.0:1.0:0.0	.	544;544	C9JHY2;Q7Z3B3	.;K1267_HUMAN	H	544	ENSP00000262419:P544H;ENSP00000387393:P544H	ENSP00000262419:P544H	P	-	2	0	KIAA1267	41500758	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.683000	0.74533	2.432000	0.82394	0.655000	0.94253	CCT	-	KANSL1	-	NULL		0.413	KANSL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KANSL1	HGNC	protein_coding	OTTHUMT00000440274.1	0	0		31	31		0.00		G	NM_015443		44144936	-1	3		20		tier1	no_errors	ENST00000262419	ensembl	human	known	74_37	missense	13.04		SNP	1.000	T	3	20
CBLN2	147381	genome.wustl.edu	37	18	70209247	70209247	+	Missense_Mutation	SNP	C	C	T	rs560158029		TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr18:70209247C>T	ENST00000269503.4	-	3	922	c.149G>A	c.(148-150)cGg>cAg	p.R50Q	CBLN2_ENST00000581073.1_Intron|CBLN2_ENST00000583651.1_Intron|CBLN2_ENST00000584764.1_Intron|CBLN2_ENST00000585159.1_Missense_Mutation_p.R50Q	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	50					positive regulation of synapse assembly (GO:0051965)	extracellular space (GO:0005615)				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				GTTCTGCGCCCGCACGGGGCA	0.756													ENSG00000141668	C|||	1	0.000199681	0.0	0.0	5008	,	,		10481	0.0		0.0	False		,,,				2504	0.001																0													20.0	21.0	21.0					18																	70209247		2200	4296	6496	SO:0001583	missense	0			-	BC035789	CCDS11999.1	18q22.3	2007-11-19			ENSG00000141668	ENSG00000141668			1544	protein-coding gene	gene with protein product		600433				7877445	Standard	NM_182511		Approved		uc002lkv.2	Q8IUK8	OTTHUMG00000132825	ENST00000269503.4:c.149G>A	18.37:g.70209247C>T	ENSP00000269503:p.Arg50Gln		Q53Z56	Missense_Mutation	SNP	pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q	p.R50Q	ENST00000269503.4	37	c.149	CCDS11999.1	18	.	.	.	.	.	.	.	.	.	.	C	17.08	3.299029	0.60195	.	.	ENSG00000141668	ENST00000269503	D	0.81579	-1.51	4.54	2.55	0.30701	.	0.700308	0.14094	N	0.341825	T	0.62720	0.2451	L	0.34521	1.04	0.80722	D	1	B	0.33044	0.395	B	0.15870	0.014	T	0.54990	-0.8210	10	0.20519	T	0.43	-2.823	6.164	0.20380	0.0:0.5626:0.2647:0.1726	.	50	Q8IUK8	CBLN2_HUMAN	Q	50	ENSP00000269503:R50Q	ENSP00000269503:R50Q	R	-	2	0	CBLN2	68360227	.	.	0.991000	0.47740	0.976000	0.68499	.	.	1.010000	0.39314	0.462000	0.41574	CGG	-	CBLN2	-	NULL		0.756	CBLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLN2	HGNC	protein_coding	OTTHUMT00000256288.1	0	0		33	33		0.00		C	NM_182511		70209247	-1	3		22		tier1	no_errors	ENST00000269503	ensembl	human	known	74_37	missense	12.00		SNP	0.998	T	3	22
NPY4R	5540	genome.wustl.edu	37	10	47087160	47087160	+	Missense_Mutation	SNP	C	C	T	rs149694580	byFrequency	TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr10:47087160C>T	ENST00000395716.1	+	2	462	c.377C>T	c.(376-378)aCg>aTg	p.T126M	NPY4R_ENST00000374312.1_Missense_Mutation_p.T126M			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	126					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										ATGTCGGTGACGGTCTCCATC	0.597													ENSG00000204174	C|||	2	0.000399361	0.0008	0.0	5008	,	,		42575	0.001		0.0	False		,,,				2504	0.0																0								C	MET/THR	3,4403	9.9+/-24.2	0,3,2200	298.0	268.0	278.0		377	4.9	1.0	10	dbSNP_134	278	6,8594	4.3+/-15.6	0,6,4294	yes	missense	PPYR1	NM_005972.4	81	0,9,6494	TT,TC,CC		0.0698,0.0681,0.0692	probably-damaging	126/376	47087160	9,12997	2203	4300	6503	SO:0001583	missense	0			-		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.377C>T	10.37:g.47087160C>T	ENSP00000379066:p.Thr126Met		Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY4_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.T126M	ENST00000395716.1	37	c.377	CCDS31193.1	10	.	.	.	.	.	.	.	.	.	.	C	14.18	2.457915	0.43634	6.81E-4	6.98E-4	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.74421	-0.84;-0.84	4.93	4.93	0.64822	GPCR, rhodopsin-like superfamily (1);	0.054567	0.64402	D	0.000001	D	0.84768	0.5545	M	0.66560	2.04	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.86474	0.1787	10	0.87932	D	0	.	16.0236	0.80522	0.0:1.0:0.0:0.0	.	126	P50391	NPY4R_HUMAN	M	126	ENSP00000363431:T126M;ENSP00000379066:T126M	ENSP00000363431:T126M	T	+	2	0	PPYR1	46507166	0.998000	0.40836	0.960000	0.40013	0.074000	0.17049	3.778000	0.55371	2.464000	0.83262	0.609000	0.83330	ACG	rs149694580	NPY4R	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt		0.597	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPY4R	HGNC	protein_coding	OTTHUMT00000047837.1	0	0		57	57		0.00		C			47087160	+1	4		37		tier1	no_errors	ENST00000374312	ensembl	human	known	74_37	missense	9.76		SNP	0.997	T	4	37
CERS3	204219	genome.wustl.edu	37	15	101088125	101088126	+	5'Flank	INS	-	-	T	rs532048470|rs574236631|rs111634080	byFrequency	TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr15:101088125_101088126insT	ENST00000560944.1	-	0	0				RP11-526I2.5_ENST00000602585.1_lincRNA			Q8IU89	CERS3_HUMAN	ceramide synthase 3						ceramide biosynthetic process (GO:0046513)|keratinocyte differentiation (GO:0030216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sphingosine N-acyltransferase activity (GO:0050291)										ACATGCTACAGTTTTTTTTTTC	0.347													ENSG00000270127	|||unknown(HR)	294	0.0587061	0.0204	0.1902	5008	,	,		16134	0.0437		0.0487	False		,,,				2504	0.0429																0																																										SO:0001631	upstream_gene_variant	0					CCDS10384.1	15q26.3	2012-11-19	2011-07-08	2011-07-08	ENSG00000154227	ENSG00000154227		"""Homeoboxes / CERS class"""	23752	protein-coding gene	gene with protein product		615276	"""LAG1 longevity assurance homolog 3 (S. cerevisiae)"", ""LAG1 homolog, ceramide synthase 3"""	LASS3			Standard	NM_178842		Approved	MGC27091	uc002bwb.3	Q8IU89	OTTHUMG00000172568		15.37:g.101088135_101088135dupT	Exception_encountered		Q8NE64|Q8NEN6	R	INS	-	NULL	ENST00000560944.1	37	NULL		15																																																																																				RP11-526I2.5	-	-		0.347	CERS3-009	KNOWN	basic	processed_transcript	PRKXP1	Clone_based_vega_gene	protein_coding	OTTHUMT00000417720.1	0	0		9	9		0.00		-	NM_178842		101088126	-1	4		7		tier1	no_errors	ENST00000602585	ensembl	human	known	74_37	rna	36.36		INS	0.000:0.000	T	4	7
ANKRD62	342850	genome.wustl.edu	37	18	12126346	12126346	+	Silent	SNP	A	A	G			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr18:12126346A>G	ENST00000587848.2	+	13	2691	c.2526A>G	c.(2524-2526)agA>agG	p.R842R	ANKRD62_ENST00000418274.2_3'UTR|ANKRD62_ENST00000314074.8_Silent_p.R828R			A6NC57	ANR62_HUMAN	ankyrin repeat domain 62	842										breast(2)|haematopoietic_and_lymphoid_tissue(1)	3						TAAAAGAAAGACAATGCCAAT	0.303													ENSG00000181626																																					0																																										SO:0001819	synonymous_variant	0			-	BX648696	CCDS67439.1	18p11.21	2014-01-21			ENSG00000181626	ENSG00000181626		"""Ankyrin repeat domain containing"""	35241	protein-coding gene	gene with protein product							Standard	XM_003959949		Approved	DKFZp779B1634	uc031rhk.1	A6NC57	OTTHUMG00000180673	ENST00000587848.2:c.2526A>G	18.37:g.12126346A>G				Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R828	ENST00000587848.2	37	c.2484		18																																																																																			-	ANKRD62	-	NULL		0.303	ANKRD62-003	PUTATIVE	basic|appris_candidate_longest	protein_coding	ANKRD62	HGNC	protein_coding	OTTHUMT00000452521.2	0	0		41	41		0.00		A	XM_001715728		12126346	+1	6		31		tier1	no_errors	ENST00000314074	ensembl	human	known	74_37	silent	16.22		SNP	0.005	G	6	31
WDR66	144406	genome.wustl.edu	37	12	122359385	122359385	+	Frame_Shift_Del	DEL	C	C	-	rs370060195		TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr12:122359385delC	ENST00000288912.4	+	2	1028	c.174delC	c.(172-174)ggcfs	p.G58fs	WDR66_ENST00000397454.2_Frame_Shift_Del_p.G58fs	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	58	Glu-rich.						calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		ggaaaacgggcgaggaggaag	0.463													ENSG00000158023																									Esophageal Squamous(85;849 1794 49757 52143)												0													44.0	45.0	45.0					12																	122359385		1915	4116	6031	SO:0001589	frameshift_variant	0				AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.174delC	12.37:g.122359385delC	ENSP00000288912:p.Gly58fs		C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.E59fs	ENST00000288912.4	37	c.174	CCDS41853.1	12																																																																																				WDR66	-	NULL		0.463	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR66	HGNC	protein_coding	OTTHUMT00000401700.1	0	0		23	23		0.00		C	NM_144668		122359385	+1	4		20		tier1	no_errors	ENST00000288912	ensembl	human	known	74_37	frame_shift_del	16.67		DEL	0.000	-	4	20
CDK18	5129	genome.wustl.edu	37	1	205501365	205501365	+	3'UTR	SNP	G	G	T			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr1:205501365G>T	ENST00000360066.2	+	0	2585				CDK18_ENST00000509056.1_3'UTR	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18								ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						CCTTCCCGAGGTGGCTCCTGC	0.587													ENSG00000117266																									Pancreas(180;489 2072 28461 40831 44265)												0																																										SO:0001624	3_prime_UTR_variant	0			-	X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"""Cyclin-dependent kinases"""	8751	protein-coding gene	gene with protein product		169190	"""PCTAIRE protein kinase 3"""	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.*859G>T	1.37:g.205501365G>T			Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	R	SNP	-	NULL	ENST00000360066.2	37	NULL	CCDS44300.1	1																																																																																			-	CDK18	-	-		0.587	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK18	HGNC	protein_coding	OTTHUMT00000090407.2	0	0		35	35		0.00		G	NM_002596		205501365	+1	10		23		tier1	no_errors	ENST00000509056	ensembl	human	known	74_37	rna	30.30		SNP	0.010	T	10	23
PHIP	55023	genome.wustl.edu	37	6	79752576	79752576	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr6:79752576C>T	ENST00000275034.4	-	7	751	c.584G>A	c.(583-585)gGc>gAc	p.G195D		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	195					cytoskeleton organization (GO:0007010)|insulin receptor signaling pathway (GO:0008286)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein import into nucleus (GO:0006606)|regulation of cell morphogenesis (GO:0022604)|regulation of growth (GO:0040008)|regulation of protein phosphorylation (GO:0001932)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	insulin receptor binding (GO:0005158)|lysine-acetylated histone binding (GO:0070577)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TATCCGTCTGCCAGTTCGATC	0.343													ENSG00000146247																																					0													119.0	115.0	116.0					6																	79752576		2203	4299	6502	SO:0001583	missense	0			-	AF310250	CCDS4987.1	6q14	2013-01-09			ENSG00000146247	ENSG00000146247		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	15673	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 14"""	612870		WDR11		11018022	Standard	NM_017934		Approved	ndrp, FLJ20705, DCAF14, BRWD2	uc003pir.3	Q8WWQ0	OTTHUMG00000015071	ENST00000275034.4:c.584G>A	6.37:g.79752576C>T	ENSP00000275034:p.Gly195Asp		A7J992|B2RPK4|Q05CQ9|Q5VVH4|Q66I29|Q69YV1|Q8NBZ5|Q96H52|Q96ME2|Q9H261	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.G195D	ENST00000275034.4	37	c.584	CCDS4987.1	6	.	.	.	.	.	.	.	.	.	.	C	25.8	4.677943	0.88445	.	.	ENSG00000146247	ENST00000275034	T	0.25912	1.77	5.29	5.29	0.74685	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);WD40-repeat-containing domain (1);	0.000000	0.64402	D	0.000001	T	0.41328	0.1154	M	0.64260	1.97	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.13308	-1.0514	9	.	.	.	-7.373	17.8954	0.88886	0.0:1.0:0.0:0.0	.	195;195	A7J992;Q8WWQ0	.;PHIP_HUMAN	D	195	ENSP00000275034:G195D	.	G	-	2	0	PHIP	79809295	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.421000	0.80204	2.465000	0.83290	0.655000	0.94253	GGC	-	PHIP	-	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.343	PHIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHIP	HGNC	protein_coding	OTTHUMT00000041297.2	0	0		44	44		0.00		C			79752576	-1	4		45		tier1	no_errors	ENST00000275034	ensembl	human	known	74_37	missense	8.16		SNP	1.000	T	4	45
BCAR3	8412	genome.wustl.edu	37	1	94032937	94032937	+	Frame_Shift_Del	DEL	T	T	-	rs78349214	byFrequency	TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr1:94032937delT	ENST00000370244.1	-	13	2486	c.2198delA	c.(2197-2199)aacfs	p.N733fs	BCAR3_ENST00000370243.1_Frame_Shift_Del_p.N733fs|BCAR3_ENST00000260502.6_Frame_Shift_Del_p.N733fs|BCAR3_ENST00000539242.1_Frame_Shift_Del_p.N409fs|BCAR3_ENST00000370247.3_Frame_Shift_Del_p.N642fs	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	733	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				lens morphogenesis in camera-type eye (GO:0002089)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		GCTCTGGTCGTTTTTTTCCCA	0.522													ENSG00000137936																																					0													160.0	139.0	146.0					1																	94032937		2203	4300	6503	SO:0001589	frameshift_variant	0				U92715	CCDS745.1, CCDS58010.1	1p22.1	2013-02-14			ENSG00000137936	ENSG00000137936		"""SH2 domain containing"""	973	protein-coding gene	gene with protein product		604704				9582273	Standard	NM_001261408		Approved	NSP2, SH2D3B	uc001dpz.4	O75815	OTTHUMG00000010301	ENST00000370244.1:c.2198delA	1.37:g.94032937delT	ENSP00000359264:p.Asn733fs		D3DT43|Q5TEW3|Q6UW40|Q9BR50	Frame_Shift_Del	DEL	pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,pfscan_RasGRF_CDC25	p.N733fs	ENST00000370244.1	37	c.2198	CCDS745.1	1																																																																																				BCAR3	-	superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.522	BCAR3-003	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCAR3	HGNC	protein_coding	OTTHUMT00000028420.1	0	0		29	29		0.00		T			94032937	-1	3		34		tier1	no_errors	ENST00000260502	ensembl	human	known	74_37	frame_shift_del	8.11		DEL	0.995	-	3	34
TTC7B	145567	genome.wustl.edu	37	14	91142581	91142582	+	Intron	INS	-	-	GAAATTAACT	rs201387742|rs33925185|rs200998826|rs6145442|rs5810517	byFrequency	TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr14:91142581_91142582insGAAATTAACT	ENST00000328459.6	-	9	1274				TTC7B_ENST00000357056.2_Intron|RP11-661G16.1_ENST00000554967.1_RNA	NM_001010854.1	NP_001010854.1	Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B											NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	36		Melanoma(154;0.222)				TTCAGTTGGTGGAAAGAGAAAC	0.411													ENSG00000258437		4849	0.968251	0.8941	0.987	5008	,	,		22431	0.997		0.995	False		,,,				2504	0.998																0																																										SO:0001627	intron_variant	0				BC035865	CCDS32140.1	14q32.12	2013-01-11	2004-06-02	2004-06-04		ENSG00000165914		"""Tetratricopeptide (TTC) repeat domain containing"""	19858	protein-coding gene	gene with protein product			"""tetratricopeptide repeat domain 7 like 1"""	TTC7L1			Standard	XM_005267367		Approved		uc001xyp.3	Q86TV6		ENST00000328459.6:c.1152+284->AGTTAATTTC	14.37:g.91142581_91142582insGAAATTAACT			Q86U24|Q86VT3	R	INS	-	NULL	ENST00000328459.6	37	NULL	CCDS32140.1	14																																																																																				RP11-661G16.1	-	-		0.411	TTC7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258437	Clone_based_vega_gene	protein_coding	OTTHUMT00000411364.2									-			91142582	+1					tier1	no_errors	ENST00000554967	ensembl	human	known	74_37	rna			INS	0.002:0.000	GAAATTAACT		
RASGEF1B	153020	genome.wustl.edu	37	4	82355797	82355797	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr4:82355797A>T	ENST00000264400.2	-	11	1347	c.1196T>A	c.(1195-1197)tTt>tAt	p.F399Y	RASGEF1B_ENST00000335927.7_Missense_Mutation_p.F357Y|RASGEF1B_ENST00000509081.1_Missense_Mutation_p.F398Y	NM_152545.1	NP_689758.1	Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	399	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				positive regulation of Ras GTPase activity (GO:0032320)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)	Ras guanyl-nucleotide exchange factor activity (GO:0005088)			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						ACTCACCTCAAAATTGACATG	0.453													ENSG00000138670																																					0													71.0	66.0	68.0					4																	82355797		2203	4300	6503	SO:0001583	missense	0			-	AK056257	CCDS34022.1, CCDS75151.1, CCDS75152.1	4q21.21	2013-09-24				ENSG00000138670			24881	protein-coding gene	gene with protein product		614532				12488504	Standard	XM_005262776		Approved	GPIG4, FLJ31695	uc003hmi.1	Q0VAM2		ENST00000264400.2:c.1196T>A	4.37:g.82355797A>T	ENSP00000264400:p.Phe399Tyr		Q0VAM1|Q4W5L7|Q4W5M3|Q96MY8	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.F399Y	ENST00000264400.2	37	c.1196	CCDS34022.1	4	.	.	.	.	.	.	.	.	.	.	A	27.6	4.849930	0.91277	.	.	ENSG00000138670	ENST00000509081;ENST00000264400;ENST00000335927	T;T;T	0.41400	1.0;1.0;1.0	4.62	4.62	0.57501	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine-nucleotide exchange factor, conserved site (1);Ras guanine nucleotide exchange factor, domain (1);	0.000000	0.85682	D	0.000000	T	0.68100	0.2964	M	0.87682	2.9	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.998	D;D;D	0.91635	0.999;0.999;0.987	T	0.74948	-0.3490	10	0.72032	D	0.01	.	13.8491	0.63485	1.0:0.0:0.0:0.0	.	357;398;399	Q0VAM2-2;Q0VAM2-3;Q0VAM2	.;.;RGF1B_HUMAN	Y	398;399;357	ENSP00000425393:F398Y;ENSP00000264400:F399Y;ENSP00000338437:F357Y	ENSP00000264400:F399Y	F	-	2	0	RASGEF1B	82574821	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.685000	0.91246	1.954000	0.56735	0.477000	0.44152	TTT	-	RASGEF1B	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.453	RASGEF1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASGEF1B	HGNC	protein_coding	OTTHUMT00000362830.1	0	0		52	52		0.00		A	NM_152545		82355797	-1	10		39		tier1	no_errors	ENST00000264400	ensembl	human	known	74_37	missense	20.41		SNP	1.000	T	10	39
GFRAL	389400	genome.wustl.edu	37	6	55196591	55196591	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr6:55196591A>T	ENST00000340465.2	+	2	187	c.101A>T	c.(100-102)gAt>gTt	p.D34V		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	34					negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of neuron apoptotic process (GO:0043524)|stress-activated protein kinase signaling cascade (GO:0031098)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGCTTACGTGATGCAAATGGA	0.338													ENSG00000187871																																					0													110.0	100.0	103.0					6																	55196591		2203	4300	6503	SO:0001583	missense	0			-	AY358198	CCDS4957.1	6p12.1	2007-06-22			ENSG00000187871	ENSG00000187871			32789	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 144"""	C6orf144		16086688	Standard	NM_207410		Approved	GRAL, UNQ9356, bA360D14.1	uc003pcm.1	Q6UXV0	OTTHUMG00000014900	ENST00000340465.2:c.101A>T	6.37:g.55196591A>T	ENSP00000343636:p.Asp34Val		Q5VTF6	Missense_Mutation	SNP	pfam_GDNF/GAS1,smart_GDNF/GAS1	p.D34V	ENST00000340465.2	37	c.101	CCDS4957.1	6	.	.	.	.	.	.	.	.	.	.	A	5.804	0.332661	0.10956	.	.	ENSG00000187871	ENST00000340465	T	0.34859	1.34	4.92	2.29	0.28610	GDNF/GAS1 (1);	0.383886	0.24352	N	0.039269	T	0.11836	0.0288	L	0.45581	1.43	0.29685	N	0.841392	P	0.40660	0.726	B	0.33890	0.172	T	0.12091	-1.0561	10	0.87932	D	0	-19.806	4.6535	0.12606	0.7026:0.1945:0.1029:0.0	.	34	Q6UXV0	GFRAL_HUMAN	V	34	ENSP00000343636:D34V	ENSP00000343636:D34V	D	+	2	0	GFRAL	55304550	0.353000	0.24904	0.278000	0.24718	0.015000	0.08874	0.679000	0.25291	1.852000	0.53769	0.383000	0.25322	GAT	-	GFRAL	-	smart_GDNF/GAS1		0.338	GFRAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFRAL	HGNC	protein_coding	OTTHUMT00000040995.2	0	0		47	47		0.00		A	NM_207410		55196591	+1	4		30		tier1	no_errors	ENST00000340465	ensembl	human	known	74_37	missense	11.76		SNP	0.164	T	4	30
CHST4	10164	genome.wustl.edu	37	16	71570964	71570964	+	Missense_Mutation	SNP	C	C	A	rs546100789		TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr16:71570964C>A	ENST00000338482.5	+	3	727	c.384C>A	c.(382-384)aaC>aaA	p.N128K	ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Missense_Mutation_p.N128K|RP11-510M2.5_ENST00000568523.1_RNA|CHST4_ENST00000572450.1_Missense_Mutation_p.N128K			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	128					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|immune response (GO:0006955)|inflammatory response (GO:0006954)|leukocyte tethering or rolling (GO:0050901)|N-acetylglucosamine metabolic process (GO:0006044)|protein sulfation (GO:0006477)|sulfur compound metabolic process (GO:0006790)	integral component of membrane (GO:0016021)|intrinsic component of Golgi membrane (GO:0031228)|trans-Golgi network (GO:0005802)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)|sulfotransferase activity (GO:0008146)			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						AGTGGGAGAACAGCCGGGCCC	0.577													ENSG00000140835																																					0													57.0	62.0	60.0					16																	71570964		2198	4300	6498	SO:0001583	missense	0			-	AF131235	CCDS10902.1	16q22.2	2008-02-05			ENSG00000140835	ENSG00000140835		"""Sulfotransferases, membrane-bound"""	1972	protein-coding gene	gene with protein product						10330415	Standard	NM_001166395		Approved	HEC-GLCNAC-6-ST, LSST	uc002fao.3	Q8NCG5	OTTHUMG00000137592	ENST00000338482.5:c.384C>A	16.37:g.71570964C>A	ENSP00000341206:p.Asn128Lys		Q8IV46|Q9Y5R3	Missense_Mutation	SNP	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase	p.N128K	ENST00000338482.5	37	c.384	CCDS10902.1	16	.	.	.	.	.	.	.	.	.	.	C	4.408	0.075444	0.08485	.	.	ENSG00000140835	ENST00000338482;ENST00000539698	D;D	0.95949	-3.86;-3.86	5.8	-0.49	0.12049	Sulfotransferase domain (1);	2.405250	0.01317	N	0.010808	D	0.86760	0.6010	N	0.08118	0	0.21782	N	0.999546	B	0.09022	0.002	B	0.18263	0.021	T	0.81616	-0.0852	10	0.07325	T	0.83	-2.0112	3.6431	0.08174	0.3302:0.3725:0.2189:0.0784	.	128	Q8NCG5	CHST4_HUMAN	K	128	ENSP00000341206:N128K;ENSP00000441204:N128K	ENSP00000341206:N128K	N	+	3	2	CHST4	70128465	0.009000	0.17119	0.133000	0.22050	0.332000	0.28634	0.258000	0.18387	0.042000	0.15717	0.655000	0.94253	AAC	-	CHST4	-	pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase		0.577	CHST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST4	HGNC	protein_coding	OTTHUMT00000268992.4	0	0		43	43		0.00		C	NM_005769		71570964	+1	5		36		tier1	no_errors	ENST00000338482	ensembl	human	known	74_37	missense	12.20		SNP	0.130	A	5	36
PLET1	349633	genome.wustl.edu	37	11	112118610	112118619	+	IGR	DEL	ACACACACAC	ACACACACAC	-	rs201398125|rs79699298|rs202146857|rs146953253		TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	ACACACACAC	ACACACACAC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr11:112118610_112118619delACACACACAC	ENST00000338832.2	-	0	1541				AP002884.1_ENST00000401135.1_RNA	NM_001145024.1	NP_001138496.1	Q6UQ28	PLET1_HUMAN							cell differentiation (GO:0030154)|negative regulation of cell-matrix adhesion (GO:0001953)|positive regulation of cell migration (GO:0030335)|wound healing, spreading of epidermal cells (GO:0035313)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)				endometrium(2)	2						atgtatatATacacacacacacacacacac	0.352													ENSG00000215954																																					0																																										SO:0001628	intergenic_variant	0																																11.37:g.112118620_112118629delACACACACAC			Q6UQ24|Q6UQ25|Q6UQ27	R	DEL	-	NULL	ENST00000338832.2	37	NULL		11																																																																																				AP002884.1	-	-		0.352	C11orf34-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000215954	Clone_based_ensembl_gene	protein_coding										ACACACACAC			112118619	+1					tier1	no_errors	ENST00000401135	ensembl	human	novel	74_37	rna			DEL	0.028:0.021:0.024:0.025:0.042:0.052:0.057:0.059:0.067:0.070	-		
ZBTB12	221527	genome.wustl.edu	37	6	31868083	31868083	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr6:31868083T>C	ENST00000375527.2	-	2	1175	c.1000A>G	c.(1000-1002)Aag>Gag	p.K334E	C2_ENST00000452323.2_5'Flank|EHMT2_ENST00000375530.4_5'Flank|EHMT2_ENST00000375537.4_5'Flank|C2_ENST00000469372.1_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	334					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						TTGGTGCACTTGATGTTCTTT	0.667													ENSG00000204366																																					0													34.0	35.0	35.0					6																	31868083		2203	4299	6502	SO:0001583	missense	0			-	BC043609	CCDS4727.1	6p21.31	2013-01-08	2004-04-15	2004-04-16	ENSG00000204366	ENSG00000204366		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	19066	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 46"""	C6orf46		9545376	Standard	NM_181842		Approved	G10, NG35, D6S59E	uc003nyd.1	Q9Y330	OTTHUMG00000031169	ENST00000375527.2:c.1000A>G	6.37:g.31868083T>C	ENSP00000364677:p.Lys334Glu		B0UY00|Q5JQ98	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.K334E	ENST00000375527.2	37	c.1000	CCDS4727.1	6	.	.	.	.	.	.	.	.	.	.	T	10.33	1.321017	0.23994	.	.	ENSG00000204366	ENST00000375527	T	0.01685	4.69	3.26	2.06	0.26882	Zinc finger, C2H2-like (1);	0.280390	0.32147	U	0.006514	T	0.00496	0.0016	N	0.24115	0.695	0.30284	N	0.790998	B	0.25105	0.118	B	0.24541	0.054	T	0.49560	-0.8927	10	0.52906	T	0.07	.	4.8767	0.13660	0.1849:0.0:0.1909:0.6242	.	334	Q9Y330	ZBT12_HUMAN	E	334	ENSP00000364677:K334E	ENSP00000364677:K334E	K	-	1	0	ZBTB12	31976062	0.980000	0.34600	0.956000	0.39512	0.881000	0.50899	-0.022000	0.12480	0.338000	0.23692	0.260000	0.18958	AAG	-	ZBTB12	-	smart_Znf_C2H2-like		0.667	ZBTB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB12	HGNC	protein_coding	OTTHUMT00000076315.2	0	0		49	49		0.00		T	NM_181842		31868083	-1	4		33		tier1	no_errors	ENST00000375527	ensembl	human	known	74_37	missense	10.81		SNP	0.998	C	4	33
TOP2B	7155	genome.wustl.edu	37	3	25675377	25675377	+	Silent	SNP	T	T	C			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr3:25675377T>C	ENST00000264331.4	-	8	980	c.981A>G	c.(979-981)aaA>aaG	p.K327K	TOP2B_ENST00000435706.2_Silent_p.K322K	NM_001068.2	NP_001059.2	Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	327					ATP catabolic process (GO:0006200)|axonogenesis (GO:0007409)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|forebrain development (GO:0030900)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|neuron migration (GO:0001764)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein kinase C binding (GO:0005080)			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36					Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Etoposide(DB00773)	GCTGGAATCCTTTTTCACTCA	0.348													ENSG00000077097																																					0													162.0	156.0	158.0					3																	25675377		1848	4087	5935	SO:0001819	synonymous_variant	0			-	X68060	CCDS46776.1	3p24.2	2012-08-30	2002-08-29		ENSG00000077097	ENSG00000077097	5.99.1.3		11990	protein-coding gene	gene with protein product		126431	"""topoisomerase (DNA) II beta (180kD)"""			1309226, 1333583	Standard	NM_001068		Approved		uc003cdj.3	Q02880	OTTHUMG00000155596	ENST00000264331.4:c.981A>G	3.37:g.25675377T>C			Q13600|Q9UMG8|Q9UQP8	Silent	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3	p.K327	ENST00000264331.4	37	c.981		3																																																																																			-	TOP2B	-	pfam_Topo_IIA_bsu_dom2,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3		0.348	TOP2B-201	KNOWN	basic|appris_candidate_longest	protein_coding	TOP2B	HGNC	protein_coding		0	0		33	33		0.00		T			25675377	-1	3		17		tier1	no_errors	ENST00000264331	ensembl	human	known	74_37	silent	15.00		SNP	1.000	C	3	17
COL17A1	1308	genome.wustl.edu	37	10	105830313	105830313	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr10:105830313C>T	ENST00000353479.5	-	9	768	c.478G>A	c.(478-480)Gat>Aat	p.D160N	COL17A1_ENST00000393211.3_Missense_Mutation_p.D160N|COL17A1_ENST00000369733.3_Missense_Mutation_p.D160N	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	160	Necessary for interaction with DST and for the recruitment of DST to hemidesmosome.|Nonhelical region (NC16).				cell junction assembly (GO:0034329)|cell-matrix adhesion (GO:0007160)|collagen catabolic process (GO:0030574)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|hemidesmosome (GO:0030056)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CGCTTAACATCATCCAATTCT	0.517													ENSG00000065618																																					0													137.0	129.0	132.0					10																	105830313		2203	4300	6503	SO:0001583	missense	0			-	M91669	CCDS7554.1	10q24.3	2013-01-16			ENSG00000065618	ENSG00000065618		"""Collagens"""	2194	protein-coding gene	gene with protein product		113811		BPAG2		7916703	Standard	NM_000494		Approved	BP180	uc001kxr.3	Q9UMD9	OTTHUMG00000018998	ENST00000353479.5:c.478G>A	10.37:g.105830313C>T	ENSP00000340937:p.Asp160Asn		Q02802|Q5JV36|Q99018|Q9NQK9|Q9UC14	Missense_Mutation	SNP	pfam_Collagen	p.D160N	ENST00000353479.5	37	c.478	CCDS7554.1	10	.	.	.	.	.	.	.	.	.	.	C	25.7	4.666123	0.88251	.	.	ENSG00000065618	ENST00000353479;ENST00000369733;ENST00000541872;ENST00000393211	T;T;T	0.07688	3.17;3.17;3.17	5.92	5.92	0.95590	.	0.287836	0.24091	N	0.041623	T	0.24160	0.0585	M	0.68952	2.095	0.58432	D	0.999999	D;P;D	0.59357	0.985;0.825;0.974	P;P;P	0.54270	0.747;0.484;0.563	T	0.00047	-1.2209	10	0.87932	D	0	-5.9864	19.9157	0.97061	0.0:1.0:0.0:0.0	.	160;160;160	Q9UMD9-2;A2A2Y8;Q9UMD9	.;.;COHA1_HUMAN	N	160;160;144;160	ENSP00000340937:D160N;ENSP00000358748:D160N;ENSP00000376905:D160N	ENSP00000340937:D160N	D	-	1	0	COL17A1	105820303	1.000000	0.71417	0.993000	0.49108	0.871000	0.50021	6.808000	0.75206	2.813000	0.96785	0.561000	0.74099	GAT	-	COL17A1	-	NULL		0.517	COL17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL17A1	HGNC	protein_coding	OTTHUMT00000050181.1	0	0		39	39		0.00		C	NM_130778, NM_000494		105830313	-1	5		29		tier1	no_errors	ENST00000353479	ensembl	human	known	74_37	missense	14.71		SNP	1.000	T	5	29
PCDHB6	56130	genome.wustl.edu	37	5	140531451	140531451	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr5:140531451C>T	ENST00000231136.1	+	1	1613	c.1613C>T	c.(1612-1614)gCg>gTg	p.A538V	PCDHB6_ENST00000543635.1_Missense_Mutation_p.A402V	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN	protocadherin beta 6	538	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCTCCCCGGCGTTGAGCAGC	0.677													ENSG00000113211																																					0													52.0	59.0	56.0					5																	140531451		2202	4300	6502	SO:0001583	missense	0			-	AF152499	CCDS4248.1	5q31	2010-01-26			ENSG00000113211	ENSG00000113211		"""Cadherins / Protocadherins : Clustered"""	8691	other	protocadherin		606332				10380929	Standard	NM_018939		Approved	PCDH-BETA6	uc003lir.3	Q9Y5E3	OTTHUMG00000129623	ENST00000231136.1:c.1613C>T	5.37:g.140531451C>T	ENSP00000231136:p.Ala538Val		B2R8R9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A538V	ENST00000231136.1	37	c.1613	CCDS4248.1	5	.	.	.	.	.	.	.	.	.	.	C	16.68	3.189820	0.57909	.	.	ENSG00000113211	ENST00000543635;ENST00000231136;ENST00000542861	T;T	0.03181	4.02;4.02	4.19	3.31	0.37934	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.10508	0.0257	L	0.43701	1.375	0.22610	N	0.998936	D	0.76494	0.999	D	0.67382	0.951	T	0.11891	-1.0569	9	0.87932	D	0	.	9.352	0.38145	0.1426:0.7787:0.0:0.0787	.	538	Q9Y5E3	PCDB6_HUMAN	V	402;538;323	ENSP00000438466:A402V;ENSP00000231136:A538V	ENSP00000231136:A538V	A	+	2	0	PCDHB6	140511635	0.035000	0.19736	0.447000	0.26932	0.731000	0.41821	3.170000	0.50816	0.881000	0.35993	-0.255000	0.11280	GCG	-	PCDHB6	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.677	PCDHB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB6	HGNC	protein_coding	OTTHUMT00000251818.2	1	1		186	186		0.53		C	NM_018939		140531451	+1	42		145		tier1	no_errors	ENST00000231136	ensembl	human	known	74_37	missense	22.46		SNP	0.485	T	42	145
SORCS3	22986	genome.wustl.edu	37	10	106974338	106974338	+	Silent	SNP	G	G	A			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr10:106974338G>A	ENST00000369701.3	+	18	2741	c.2514G>A	c.(2512-2514)ggG>ggA	p.G838G	SORCS3_ENST00000369699.4_Silent_p.G124G	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	838	PKD. {ECO:0000255|PROSITE- ProRule:PRU00151}.				learning (GO:0007612)|memory (GO:0007613)|neuropeptide signaling pathway (GO:0007218)|regulation of long term synaptic depression (GO:1900452)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|neuronal postsynaptic density (GO:0097481)	neuropeptide receptor activity (GO:0008188)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CAGAGCAGGGGCACAATGCAA	0.577													ENSG00000156395																									NSCLC(116;1497 1690 7108 13108 14106)												0													50.0	44.0	46.0					10																	106974338		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AB028982	CCDS7558.1	10q23-q25	2006-04-12			ENSG00000156395	ENSG00000156395			16699	protein-coding gene	gene with protein product		606285				11499680	Standard	NM_014978		Approved	KIAA1059, SORCS	uc001kyi.1	Q9UPU3	OTTHUMG00000019011	ENST00000369701.3:c.2514G>A	10.37:g.106974338G>A			Q5VXF9|Q9NQJ2	Silent	SNP	pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom	p.G838	ENST00000369701.3	37	c.2514	CCDS7558.1	10																																																																																			-	SORCS3	-	pfam_PKD_dom,superfamily_PKD_dom		0.577	SORCS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORCS3	HGNC	protein_coding	OTTHUMT00000050221.1	0	0		31	31		0.00		G	NM_014978		106974338	+1	4		28		tier1	no_errors	ENST00000369701	ensembl	human	known	74_37	silent	12.50		SNP	0.914	A	4	28
AKAP11	11215	genome.wustl.edu	37	13	42873842	42873843	+	Frame_Shift_Del	DEL	GG	GG	-			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	GG	GG					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr13:42873842_42873843delGG	ENST00000025301.2	+	8	1135_1136	c.960_961delGG	c.(958-963)ttggatfs	p.D321fs		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	321					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TTATTTTCTTGGATGAAGAGGG	0.351													ENSG00000023516																																					0																																										SO:0001589	frameshift_variant	0				AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.960_961delGG	13.37:g.42873842_42873843delGG	ENSP00000025301:p.Asp321fs		O75124|Q9NUK7	Frame_Shift_Del	DEL	NULL	p.D321fs	ENST00000025301.2	37	c.960_961	CCDS9383.1	13																																																																																				AKAP11	-	NULL		0.351	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP11	HGNC	protein_coding	OTTHUMT00000044700.2	0	0		17	17		0.00		GG	NM_016248		42873843	+1	2		17		tier1	no_errors	ENST00000025301	ensembl	human	known	74_37	frame_shift_del	10.53		DEL	0.995:1.000	-	2	17
ST3GAL6	10402	genome.wustl.edu	37	3	98489969	98489969	+	Intron	SNP	A	A	T			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr3:98489969A>T	ENST00000483910.1	+	3	456				ST3GAL6_ENST00000394162.1_Intron|ST3GAL6_ENST00000462152.1_Intron|ST3GAL6_ENST00000468553.1_Intron|ST3GAL6_ENST00000265261.6_5'UTR	NM_001271146.1	NP_001258075.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6						carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						TTTTAGTCAGAGCTCTGCATA	0.343													ENSG00000064225																																					0																																										SO:0001627	intron_variant	0			-	AF119391	CCDS2933.1, CCDS59452.1, CCDS74968.1	3q12.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000064225	ENSG00000064225		"""Sialyltransferases"""	18080	protein-coding gene	gene with protein product		607156	"""sialyltransferase 10 (alpha-2,3-sialyltransferase VI)"""	SIAT10		10206952	Standard	NM_006100		Approved	ST3GALVI	uc010hpd.4	Q9Y274	OTTHUMG00000159047	ENST00000483910.1:c.167+169A>T	3.37:g.98489969A>T			B2RCH2|B3KMI1|D3DN39|F8W6U0	Missense_Mutation	SNP	NULL	p.S58C	ENST00000483910.1	37	c.172	CCDS2933.1	3																																																																																			-	ST3GAL6	-	NULL		0.343	ST3GAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST3GAL6	HGNC	protein_coding	OTTHUMT00000353013.2	0	0		33	33		0.00		A	NM_006100		98489969	+1	8		26		tier1	no_errors	ENST00000469105	ensembl	human	known	74_37	missense	23.53		SNP	0.044	T	8	26
KDM6B	23135	genome.wustl.edu	37	17	7750177	7750178	+	In_Frame_Ins	INS	-	-	ACCACC	rs375218857|rs61462443		TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr17:7750177_7750178insACCACC	ENST00000448097.2	+	9	1083_1084	c.752_753insACCACC	c.(751-756)ttacca>ttACCACCacca	p.264_265insPP	KDM6B_ENST00000254846.5_In_Frame_Ins_p.264_265insPP			O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	264	Pro-rich.				cardiac muscle cell differentiation (GO:0055007)|cellular response to hydrogen peroxide (GO:0070301)|endothelial cell differentiation (GO:0045446)|inflammatory response (GO:0006954)|mesodermal cell differentiation (GO:0048333)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						ccaccaccattaccaccaccac	0.614													ENSG00000132510																																					0																																										SO:0001652	inframe_insertion	0				AB002344	CCDS32552.1	17p13.1	2011-07-01	2009-04-17	2009-04-17		ENSG00000132510		"""Chromatin-modifying enzymes / K-demethylases"""	29012	protein-coding gene	gene with protein product		611577	"""jumonji domain containing 3"", ""jumonji domain containing 3, histone lysine demethylase"""	JMJD3		10662545, 9205841	Standard	NM_001080424		Approved	KIAA0346	uc002giw.1	O15054		ENST00000448097.2:c.783_788dupACCACC	17.37:g.7750178_7750183dupACCACC	ENSP00000412513:p.Pro263_Pro264dup		C9IZ40|Q96G33	In_Frame_Ins	INS	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.255in_frame_insPP	ENST00000448097.2	37	c.752_753		17																																																																																				KDM6B	-	NULL		0.614	KDM6B-002	KNOWN	basic	protein_coding	KDM6B	HGNC	protein_coding	OTTHUMT00000440248.1									-	XM_043272		7750178	+1					tier1	no_errors	ENST00000254846	ensembl	human	known	74_37	in_frame_ins			INS	0.470:0.528	ACCACC		
GDF3	9573	genome.wustl.edu	37	12	7843124	7843124	+	Silent	SNP	G	G	A			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr12:7843124G>A	ENST00000329913.3	-	2	492	c.445C>T	c.(445-447)Ctg>Ttg	p.L149L		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	149					endoderm development (GO:0007492)|eye development (GO:0001654)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of epidermal cell differentiation (GO:0045605)|notochord development (GO:0030903)|primitive streak formation (GO:0090009)|regulation of cell fate commitment (GO:0010453)|response to dietary excess (GO:0002021)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TCCTGAACCAGGAACAGAGCC	0.537													ENSG00000184344																																					0													55.0	58.0	57.0					12																	7843124		2203	4300	6503	SO:0001819	synonymous_variant	0			-	AF263538	CCDS8581.1	12p13.1	2014-01-30			ENSG00000184344	ENSG00000184344		"""Endogenous ligands"""	4218	protein-coding gene	gene with protein product		606522				9467948	Standard	NM_020634		Approved		uc001qte.3	Q9NR23	OTTHUMG00000168433	ENST00000329913.3:c.445C>T	12.37:g.7843124G>A			Q8NEJ4	Silent	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu	p.L149	ENST00000329913.3	37	c.445	CCDS8581.1	12																																																																																			-	GDF3	-	pfam_TGF-b_N		0.537	GDF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF3	HGNC	protein_coding	OTTHUMT00000399717.1	0	0		27	27		0.00		G			7843124	-1	6		25		tier1	no_errors	ENST00000329913	ensembl	human	known	74_37	silent	19.35		SNP	0.850	A	6	25
TRANK1	9881	genome.wustl.edu	37	3	36874693	36874693	+	Silent	SNP	G	G	A			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr3:36874693G>A	ENST00000429976.2	-	21	6496	c.6249C>T	c.(6247-6249)tgC>tgT	p.C2083C	TRANK1_ENST00000301807.6_Silent_p.C1533C|TRANK1_ENST00000428977.2_Silent_p.C1533C	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2083							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GAGCTATCTGGCAATACTTGG	0.388													ENSG00000168016																																					0													42.0	40.0	41.0					3																	36874693		1843	4101	5944	SO:0001819	synonymous_variant	0			-	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.6249C>T	3.37:g.36874693G>A			Q8N8K0	Silent	SNP	pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.C2083	ENST00000429976.2	37	c.6249	CCDS46789.2	3																																																																																			-	TRANK1	-	NULL		0.388	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	HGNC	protein_coding		0	0		39	39		0.00		G	NM_014831		36874693	-1	3		20		tier1	no_errors	ENST00000429976	ensembl	human	known	74_37	silent	13.04		SNP	1.000	A	3	20
GBE1	2632	genome.wustl.edu	37	3	81586138	81586138	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr3:81586138C>T	ENST00000429644.2	-	13	2370	c.1727G>A	c.(1726-1728)cGc>cAc	p.R576H	GBE1_ENST00000489715.1_Missense_Mutation_p.R535H	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	576					carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	1,4-alpha-glucan branching enzyme activity (GO:0003844)|cation binding (GO:0043169)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		GAACTTGTAGCGAAGAAGGTC	0.423									Glycogen Storage Disease, type IV				ENSG00000114480																																					0													115.0	111.0	112.0					3																	81586138		1837	4085	5922	SO:0001583	missense	0	Familial Cancer Database	Andersen Disease, Brancher deficiency	-		CCDS54612.1	3p12.2	2013-09-20	2008-08-01		ENSG00000114480	ENSG00000114480	2.4.1.18		4180	protein-coding gene	gene with protein product	"""glycogen branching enzyme"", ""Andersen disease"", ""glycogen storage disease type IV"""	607839				8463281	Standard	NM_000158		Approved		uc021xav.1	Q04446	OTTHUMG00000158978	ENST00000429644.2:c.1727G>A	3.37:g.81586138C>T	ENSP00000410833:p.Arg576His		B3KWV3|Q96EN0	Missense_Mutation	SNP	pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom	p.R576H	ENST00000429644.2	37	c.1727	CCDS54612.1	3	.	.	.	.	.	.	.	.	.	.	C	26.8	4.775772	0.90195	.	.	ENSG00000114480	ENST00000429644;ENST00000264326;ENST00000489715;ENST00000536832	T;T	0.20598	2.06;2.08	5.3	5.3	0.74995	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.65217	0.2670	H	0.98048	4.135	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.986	T	0.79664	-0.1709	10	0.87932	D	0	-16.3278	19.3052	0.94158	0.0:1.0:0.0:0.0	.	535;576	E9PGM4;Q04446	.;GLGB_HUMAN	H	576;627;535;339	ENSP00000410833:R576H;ENSP00000419638:R535H	ENSP00000264326:R627H	R	-	2	0	GBE1	81668828	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.445000	0.80570	2.639000	0.89480	0.650000	0.86243	CGC	-	GBE1	-	superfamily_Glycoside_hydrolase_SF		0.423	GBE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBE1	HGNC	protein_coding	OTTHUMT00000352760.2	0	0		24	24		0.00		C			81586138	-1	4		14		tier1	no_errors	ENST00000429644	ensembl	human	known	74_37	missense	22.22		SNP	1.000	T	4	14
SALL1	6299	genome.wustl.edu	37	16	51185193	51185193	+	5'Flank	DEL	A	A	-			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr16:51185193delA	ENST00000251020.4	-	0	0				SALL1_ENST00000440970.1_5'Flank|AC009166.5_ENST00000570060.1_RNA|SALL1_ENST00000562674.1_5'UTR|SALL1_ENST00000541611.1_5'Flank|SALL1_ENST00000566102.1_5'Flank	NM_002968.2	NP_002959.2	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1						adrenal gland development (GO:0030325)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic digestive tract development (GO:0048566)|embryonic digit morphogenesis (GO:0042733)|forelimb morphogenesis (GO:0035136)|gonad development (GO:0008406)|heart development (GO:0007507)|hindlimb morphogenesis (GO:0035137)|histone deacetylation (GO:0016575)|inductive cell-cell signaling (GO:0031129)|kidney development (GO:0001822)|kidney epithelium development (GO:0072073)|limb development (GO:0060173)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube closure (GO:0001843)|olfactory bulb interneuron differentiation (GO:0021889)|olfactory bulb mitral cell layer development (GO:0061034)|olfactory nerve development (GO:0021553)|outer ear morphogenesis (GO:0042473)|pituitary gland development (GO:0021983)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)|ureteric bud invasion (GO:0072092)|ventricular septum development (GO:0003281)	chromocenter (GO:0010369)|cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AAAAATTACTAAAAAAAAATC	0.622													ENSG00000103449																									GBM(103;1352 1446 1855 4775 8890)												0										78,4106		2,74,2016	13.0	14.0	14.0			3.5	1.0	16		14	158,7982		0,158,3912	no	near-gene-5				2,232,5928	A1A1,A1R,RR		1.941,1.8642,1.915			51185193	236,12088	2181	4275	6456	SO:0001631	upstream_gene_variant	0				X98833	CCDS10747.1, CCDS45483.1	16q12.1	2014-09-17	2013-10-17		ENSG00000103449	ENSG00000103449		"""Zinc fingers, C2H2-type"""	10524	protein-coding gene	gene with protein product		602218	"""sal (Drosophila)-like 1"", ""sal-like 1 (Drosophila)"""	TBS		9425907	Standard	NM_002968		Approved	Hsal1, ZNF794	uc021tie.1	Q9NSC2	OTTHUMG00000133176		16.37:g.51185193delA	Exception_encountered		Q99881|Q9NSC3|Q9P1R0	R	DEL	-	NULL	ENST00000251020.4	37	NULL	CCDS10747.1	16																																																																																				SALL1	-	-		0.622	SALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL1	HGNC	protein_coding	OTTHUMT00000256883.2	0	0		48	48		0.00		A	NM_002968		51185193	-1	3		22		tier1	no_errors	ENST00000562674	ensembl	human	known	74_37	rna	12.00		DEL	1.000	-	3	22
CUZD1	50624	genome.wustl.edu	37	10	124594289	124594289	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr10:124594289G>T	ENST00000368904.1	-	9	2264	c.1315C>A	c.(1315-1317)Ctt>Att	p.L439I	CUZD1_ENST00000392790.1_Missense_Mutation_p.L439I|CUZD1_ENST00000545804.1_Missense_Mutation_p.L439I					CUB and zona pellucida-like domains 1											NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		CAGGTATCAAGAAACACCACC	0.383													ENSG00000138161																																					0													63.0	63.0	63.0					10																	124594289		2203	4300	6503	SO:0001583	missense	0			-	AF305835	CCDS7631.1	10q26.13	2003-11-18			ENSG00000138161	ENSG00000138161			17937	protein-coding gene	gene with protein product						10542259	Standard	NM_022034		Approved	ERG-1, UO-44		Q86UP6	OTTHUMG00000019195	ENST00000368904.1:c.1315C>A	10.37:g.124594289G>T	ENSP00000357900:p.Leu439Ile			Missense_Mutation	SNP	pfam_ZP_dom,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_ZP_dom,prints_ZP_dom	p.L439I	ENST00000368904.1	37	c.1315	CCDS7631.1	10	.	.	.	.	.	.	.	.	.	.	G	12.31	1.900697	0.33535	.	.	ENSG00000138161	ENST00000368904;ENST00000368901;ENST00000368900;ENST00000338948;ENST00000368899;ENST00000545804;ENST00000392790	D;D;D	0.83992	-1.79;-1.79;-1.79	5.03	4.09	0.47781	Endoglin/CD105 antigen subgroup (1);Zona pellucida sperm-binding protein (3);	0.222293	0.38272	N	0.001751	T	0.79106	0.4390	L	0.49350	1.555	0.23712	N	0.99704	B	0.33171	0.4	B	0.40534	0.332	T	0.67868	-0.5559	10	0.30078	T	0.28	-14.3072	8.6002	0.33740	0.0:0.2409:0.5218:0.2373	.	439	Q86UP6	CUZD1_HUMAN	I	439;158;158;73;158;439;439	ENSP00000357900:L439I;ENSP00000441590:L439I;ENSP00000376540:L439I	ENSP00000340905:L73I	L	-	1	0	CUZD1	124584279	0.008000	0.16893	0.962000	0.40283	0.838000	0.47535	-0.091000	0.11146	2.353000	0.79882	0.460000	0.39030	CTT	-	CUZD1	-	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom		0.383	CUZD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUZD1	HGNC	protein_coding	OTTHUMT00000050829.2	0	0		43	43		0.00		G	NM_022034		124594289	-1	4		37		tier1	no_errors	ENST00000368904	ensembl	human	known	74_37	missense	9.76		SNP	0.730	T	4	37
ANPEP	290	genome.wustl.edu	37	15	90348420	90348420	+	Silent	SNP	G	G	T			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr15:90348420G>T	ENST00000300060.6	-	4	1099	c.786C>A	c.(784-786)ccC>ccA	p.P262P	ANPEP_ENST00000558177.1_5'Flank	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	262	Interaction with HCoV-229E.|Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	CATTCCAGTTGGGGTCTTCTG	0.602													ENSG00000166825																									NSCLC(30;827 977 2459 19669 26125)												0													318.0	283.0	295.0					15																	90348420		2200	4299	6499	SO:0001819	synonymous_variant	0			-	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.786C>A	15.37:g.90348420G>T			Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.P262	ENST00000300060.6	37	c.786	CCDS10356.1	15																																																																																			-	ANPEP	-	pfam_Peptidase_M1_N		0.602	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANPEP	HGNC	protein_coding	OTTHUMT00000313425.1	0	0		76	76		0.00		G			90348420	-1	9		63		tier1	no_errors	ENST00000300060	ensembl	human	known	74_37	silent	12.16		SNP	0.000	T	9	63
DOCK7	85440	genome.wustl.edu	37	1	63084514	63084514	+	Silent	SNP	G	G	T	rs374462701		TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr1:63084514G>T	ENST00000340370.5	-	14	1562	c.1545C>A	c.(1543-1545)ccC>ccA	p.P515P	DOCK7_ENST00000251157.5_Silent_p.P515P|DOCK7_ENST00000404627.2_Silent_p.P515P	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	515					activation of Rac GTPase activity (GO:0032863)|axonogenesis (GO:0007409)|establishment of neuroblast polarity (GO:0045200)|hematopoietic progenitor cell differentiation (GO:0002244)|interkinetic nuclear migration (GO:0022027)|microtubule cytoskeleton organization (GO:0000226)|neuron projection development (GO:0031175)|pigmentation (GO:0043473)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of neurogenesis (GO:0050767)|small GTPase mediated signal transduction (GO:0007264)	axon (GO:0030424)|basal part of cell (GO:0045178)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|neuron projection (GO:0043005)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac GTPase binding (GO:0048365)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TTTCAGGTGCGGGAGAAATGT	0.373													ENSG00000116641																																					0													119.0	129.0	126.0					1																	63084514		2203	4300	6503	SO:0001819	synonymous_variant	0			-		CCDS30734.1, CCDS60156.1, CCDS60157.1	1p32.1	2008-02-05			ENSG00000116641	ENSG00000116641			19190	protein-coding gene	gene with protein product		615730				12432077	Standard	NM_033407		Approved	KIAA1771, ZIR2	uc001daq.4	Q96N67	OTTHUMG00000013131	ENST00000340370.5:c.1545C>A	1.37:g.63084514G>T			Q00M63|Q2PPY7|Q45RE8|Q45RE9|Q5T1B9|Q5T1C0|Q6ZV32|Q8TB82|Q96NG6|Q96NI0|Q9C092	Silent	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold	p.P515	ENST00000340370.5	37	c.1545	CCDS30734.1	1																																																																																			-	DOCK7	-	NULL		0.373	DOCK7-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK7	HGNC	protein_coding	OTTHUMT00000036806.1	0	0		49	49		0.00		G	NM_033407		63084514	-1	3		19		tier1	no_errors	ENST00000251157	ensembl	human	known	74_37	silent	13.64		SNP	0.992	T	3	19
FAM47B	170062	genome.wustl.edu	37	X	34961058	34961058	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chrX:34961058G>A	ENST00000329357.5	+	1	146	c.110G>A	c.(109-111)cGc>cAc	p.R37H		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	37										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AAGCACAGGCGCCTGAGGTTC	0.597													ENSG00000189132																																					0													32.0	28.0	29.0					X																	34961058		2202	4296	6498	SO:0001583	missense	0			-	BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.110G>A	X.37:g.34961058G>A	ENSP00000328307:p.Arg37His		Q5JQN5|Q6PIG3	Missense_Mutation	SNP	NULL	p.R37H	ENST00000329357.5	37	c.110	CCDS14236.1	X	.	.	.	.	.	.	.	.	.	.	g	5.317	0.243826	0.10077	.	.	ENSG00000189132	ENST00000329357	T	0.21191	2.02	0.226	0.226	0.15353	.	.	.	.	.	T	0.15998	0.0385	L	0.46741	1.465	0.09310	N	1	B	0.29531	0.247	B	0.25291	0.059	T	0.20505	-1.0273	8	0.44086	T	0.13	.	.	.	.	.	37	Q8NA70	FA47B_HUMAN	H	37	ENSP00000328307:R37H	ENSP00000328307:R37H	R	+	2	0	FAM47B	34870979	0.036000	0.19791	0.009000	0.14445	0.023000	0.10783	0.358000	0.20216	0.283000	0.22279	0.287000	0.19450	CGC	-	FAM47B	-	NULL		0.597	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47B	HGNC	protein_coding	OTTHUMT00000056211.1	0	0		31	31		0.00		G	NM_152631		34961058	+1	5		17		tier1	no_errors	ENST00000329357	ensembl	human	known	74_37	missense	22.73		SNP	0.009	A	5	17
SCAMP1	9522	genome.wustl.edu	37	5	77772627	77772628	+	3'UTR	INS	-	-	A			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr5:77772627_77772628insA	ENST00000339292.4	+	0	2241_2242				SCAMP1_ENST00000538629.1_3'UTR			O15126	SCAM1_HUMAN	secretory carrier membrane protein 1						endocytosis (GO:0006897)|exocytosis (GO:0006887)|post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	clathrin-coated vesicle (GO:0030136)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|synaptic vesicle membrane (GO:0030672)|trans-Golgi network (GO:0005802)|zymogen granule membrane (GO:0042589)							all_lung(232;0.000397)|Lung NSC(167;0.00105)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.9e-46)|Epithelial(54;9.4e-43)|all cancers(79;1.12e-37)		TTTCCAGCAATAAAAAAAAAAG	0.307													ENSG00000085365																																					0																																										SO:0001624	3_prime_UTR_variant	0				AF038966	CCDS75264.1	5q14.1	2013-02-21			ENSG00000085365	ENSG00000085365		"""Secretory carrier membrane proteins"""	10563	protein-coding gene	gene with protein product		606911				9378760	Standard	NM_004866		Approved	SCAMP37	uc003kfl.3	O15126	OTTHUMG00000162479	ENST00000339292.4:c.*2239->A	5.37:g.77772637_77772637dupA			O43587|Q6FG23|Q96BX1|Q96QK5	R	INS	-	NULL	ENST00000339292.4	37	NULL		5																																																																																				SCAMP1	-	-		0.307	SCAMP1-001	KNOWN	sequence_error|basic|exp_conf	processed_transcript	SCAMP1	HGNC	protein_coding	OTTHUMT00000369096.2	0	0		21	21		0.00		-	NM_004866		77772628	+1	3		18		tier1	no_errors	ENST00000320280	ensembl	human	known	74_37	rna	14.29		INS	0.258:0.109	A	3	18
DCAF11	80344	genome.wustl.edu	37	14	24587326	24587326	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr14:24587326A>G	ENST00000446197.3	+	6	1266	c.539A>G	c.(538-540)tAc>tGc	p.Y180C	DCAF11_ENST00000559115.1_Missense_Mutation_p.Y180C|DCAF11_ENST00000560171.1_Intron|DCAF11_ENST00000396936.1_Missense_Mutation_p.Y80C|DCAF11_ENST00000396941.4_Missense_Mutation_p.Y154C	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	180					protein ubiquitination (GO:0016567)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)											TGTGGCATCTACAGCAAAGAT	0.488													ENSG00000100897																																					0													189.0	183.0	185.0					14																	24587326		2203	4300	6503	SO:0001583	missense	0			-	AF130070	CCDS9610.1, CCDS41929.1	14q11.2	2013-01-09	2009-07-17	2009-07-17	ENSG00000100897	ENSG00000100897		"""WD repeat domain containing"", ""DDB1 and CUL4 associated factors"""	20258	protein-coding gene	gene with protein product		613317	"""WD repeat domain 23"""	WDR23			Standard	NM_025230		Approved	PRO2389, GL014	uc001wlv.3	Q8TEB1	OTTHUMG00000028793	ENST00000446197.3:c.539A>G	14.37:g.24587326A>G	ENSP00000415556:p.Tyr180Cys		B3KQ83|D3DS56|Q5D039|Q86U00|Q86U39|Q8NDN2|Q9H2J0|Q9H3A3|Q9H5C9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Y180C	ENST00000446197.3	37	c.539	CCDS9610.1	14	.	.	.	.	.	.	.	.	.	.	a	18.07	3.541364	0.65085	.	.	ENSG00000100897	ENST00000326009;ENST00000446197;ENST00000396936;ENST00000396941	T;T	0.45276	4.96;0.9	5.5	5.5	0.81552	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.64238	0.2580	M	0.73962	2.25	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.991;0.986;0.987;0.98	T	0.68164	-0.5481	10	0.87932	D	0	-19.6335	13.6097	0.62071	1.0:0.0:0.0:0.0	.	103;154;80;180;180	Q59GN6;Q8TEB1-2;Q8TEB1-3;A8K9T2;Q8TEB1	.;.;.;.;DCA11_HUMAN	C	180;154;80;154	ENSP00000380142:Y80C;ENSP00000380146:Y154C	ENSP00000323680:Y180C	Y	+	2	0	DCAF11	23657166	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.853000	0.86934	2.308000	0.77769	0.533000	0.62120	TAC	-	DCAF11	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat_dom		0.488	DCAF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF11	HGNC	protein_coding	OTTHUMT00000071907.4	0	0		38	38		0.00		A			24587326	+1	11		19		tier1	no_errors	ENST00000446197	ensembl	human	known	74_37	missense	36.67		SNP	1.000	G	11	19
SPATA31D1	389763	genome.wustl.edu	37	9	84606727	84606727	+	Missense_Mutation	SNP	C	C	A	rs181562191		TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr9:84606727C>A	ENST00000344803.2	+	4	1389	c.1342C>A	c.(1342-1344)Cta>Ata	p.L448I		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	448					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											AAACTACCAACTAAATTCCTC	0.413													ENSG00000214929																																					0													91.0	84.0	86.0					9																	84606727		1904	4115	6019	SO:0001583	missense	0			-		CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.1342C>A	9.37:g.84606727C>A	ENSP00000341988:p.Leu448Ile			Missense_Mutation	SNP	NULL	p.L448I	ENST00000344803.2	37	c.1342	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	C	10.60	1.395899	0.25205	.	.	ENSG00000214929	ENST00000344803	T	0.09445	2.98	2.74	-2.03	0.07365	.	2.418860	0.02009	N	0.046859	T	0.27169	0.0666	M	0.72894	2.215	0.09310	N	1	D	0.58970	0.984	D	0.66084	0.941	T	0.23440	-1.0188	10	0.45353	T	0.12	-0.1954	4.4099	0.11427	0.5664:0.3079:0.0:0.1257	.	448	Q6ZQQ2	F75D1_HUMAN	I	448	ENSP00000341988:L448I	ENSP00000341988:L448I	L	+	1	2	FAM75D1	83796547	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-0.365000	0.07573	-0.442000	0.07190	0.558000	0.71614	CTA	-	SPATA31D1	-	NULL		0.413	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	0	0		75	75		0.00		C	NM_001001670		84606727	+1	18		62		tier1	no_errors	ENST00000344803	ensembl	human	known	74_37	missense	22.50		SNP	0.000	A	18	62
ATG101	60673	genome.wustl.edu	37	12	52467507	52467507	+	Silent	SNP	C	C	T			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr12:52467507C>T	ENST00000336854.4	+	3	551	c.73C>T	c.(73-75)Ctg>Ttg	p.L25L		NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN		25					autophagic vacuole assembly (GO:0000045)	pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein complex binding (GO:0032403)			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		GCTGGCTGTGCTGCACACGGT	0.617													ENSG00000123395																																					0													115.0	94.0	101.0					12																	52467507		2203	4300	6503	SO:0001819	synonymous_variant	0			-																												ENST00000336854.4:c.73C>T	12.37:g.52467507C>T			Q9HAE2|Q9HBN1	Silent	SNP	pfam_ATG101	p.L25	ENST00000336854.4	37	c.73	CCDS8820.1	12																																																																																			-	C12orf44	-	pfam_ATG101		0.617	C12orf44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf44	HGNC	protein_coding	OTTHUMT00000405063.1	0	0		21	21		0.00		C			52467507	+1	3		12		tier1	no_errors	ENST00000336854	ensembl	human	known	74_37	silent	20.00		SNP	1.000	T	3	12
SLFN5	162394	genome.wustl.edu	37	17	33592322	33592322	+	Silent	SNP	C	C	T			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr17:33592322C>T	ENST00000299977.4	+	5	2239	c.2091C>T	c.(2089-2091)ccC>ccT	p.P697P	SLFN5_ENST00000542451.1_3'UTR	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	697					cell differentiation (GO:0030154)	nucleus (GO:0005634)	ATP binding (GO:0005524)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		GTGGCCTCCCCCCTCCCTCAG	0.498													ENSG00000166750																																					0													112.0	110.0	111.0					17																	33592322		2203	4300	6503	SO:0001819	synonymous_variant	0			-	BX647942	CCDS32619.1	17q12	2006-04-05				ENSG00000166750			28286	protein-coding gene	gene with protein product		614952				9846487	Standard	NM_144975		Approved	MGC19764	uc002hjf.4	Q08AF3		ENST00000299977.4:c.2091C>T	17.37:g.33592322C>T			Q08AF2|Q8WU54|Q96A82	Silent	SNP	pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase	p.P697	ENST00000299977.4	37	c.2091	CCDS32619.1	17																																																																																			-	SLFN5	-	superfamily_P-loop_NTPase		0.498	SLFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLFN5	HGNC	protein_coding	OTTHUMT00000448649.2	0	0		23	23		0.00		C	NM_144975		33592322	+1	6		29		tier1	no_errors	ENST00000299977	ensembl	human	known	74_37	silent	17.14		SNP	0.000	T	6	29
TNKS2	80351	genome.wustl.edu	37	10	93601945	93601946	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr10:93601945_93601946insA	ENST00000371627.4	+	16	2235_2236	c.1856_1857insA	c.(1855-1860)acaaaafs	p.TK619fs		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	619					multicellular organism growth (GO:0035264)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein polyubiquitination (GO:0000209)|regulation of multicellular organism growth (GO:0040014)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear chromosome, telomeric region (GO:0000784)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)|perinuclear region of cytoplasm (GO:0048471)	enzyme binding (GO:0019899)|metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)	p.N622fs*29(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				GCAGACCCTACAAAAAAAAACA	0.391													ENSG00000107854																																					1	Deletion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	0				AF342982	CCDS7417.1	10q23.3	2013-01-10			ENSG00000107854	ENSG00000107854		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15677	protein-coding gene	gene with protein product		607128					Standard	NM_025235		Approved	TNKL, TANK2, PARP-5b, PARP-5c, PARP5B, PARP5C, pART6	uc001khp.3	Q9H2K2	OTTHUMG00000018747	ENST00000371627.4:c.1865dupA	10.37:g.93601954_93601954dupA	ENSP00000360689:p.Thr619fs		B2RBD3|Q9H8F2|Q9HAS4	Frame_Shift_Ins	INS	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt	p.N622fs	ENST00000371627.4	37	c.1856_1857	CCDS7417.1	10																																																																																				TNKS2	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.391	TNKS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS2	HGNC	protein_coding	OTTHUMT00000049374.1	0	0		50	50		0.00		-	NM_025235		93601946	+1	5		40		tier1	no_errors	ENST00000371627	ensembl	human	known	74_37	frame_shift_ins	11.11		INS	1.000:0.997	A	5	40
AHNAK2	113146	genome.wustl.edu	37	14	105419754	105419754	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr14:105419754delG	ENST00000333244.5	-	7	2153	c.2034delC	c.(2032-2034)cccfs	p.P678fs	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	678						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTTGAACTTGGGCATTTTGA	0.498													ENSG00000185567																																					0													183.0	194.0	191.0					14																	105419754		1931	4117	6048	SO:0001589	frameshift_variant	0				AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.2034delC	14.37:g.105419754delG	ENSP00000353114:p.Pro678fs		Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Frame_Shift_Del	DEL	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.K679fs	ENST00000333244.5	37	c.2034	CCDS45177.1	14																																																																																				AHK2	-	NULL		0.498	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHK2	HGNC	protein_coding	OTTHUMT00000410300.1	0	0		106	106		0.00		G	NM_138420		105419754	-1	14		83		tier1	no_errors	ENST00000333244	ensembl	human	known	74_37	frame_shift_del	14.43		DEL	0.215	-	14	83
LOC101927209	101927209	genome.wustl.edu	37	1	142720897	142720898	+	lincRNA	INS	-	-	A	rs112730110|rs374883772	byFrequency	TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr1:142720897_142720898insA	ENST00000610091.1	-	0	204_205																											GCTCTTCCTCTAAGCCACTGGT	0.277													ENSG00000203849	|||unknown(NO_COVERAGE)	2342	0.467652	0.2436	0.7118	5008	,	,		10169	0.4038		0.666	False		,,,				2504	0.4591																0																																												0																																1.37:g.142720899_142720899dupA				R	INS	-	NULL	ENST00000610091.1	37	NULL		1																																																																																				RP11-417J8.6	-	-		0.277	RP11-417J8.6-001	KNOWN	basic	lincRNA	ENSG00000203849	Clone_based_vega_gene	lincRNA	OTTHUMT00000037265.2	0	0		33	33		0.00		-			142720898	-1	4		32		tier1	no_errors	ENST00000595144	ensembl	human	known	74_37	rna	11.11		INS	0.135:0.096	A	4	32
CAPN1	823	genome.wustl.edu	37	11	64972271	64972271	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr11:64972271G>A	ENST00000527323.1	+	10	1523	c.1283G>A	c.(1282-1284)cGt>cAt	p.R428H	CAPN1_ENST00000533820.1_Missense_Mutation_p.R428H|CAPN1_ENST00000533129.1_Missense_Mutation_p.R428H|CAPN1_ENST00000524773.1_Missense_Mutation_p.R428H|CAPN1_ENST00000279247.6_Missense_Mutation_p.R428H			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	428	Domain III.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CAGAAGCACCGTCGCCGCGAG	0.637											OREG0021073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	ENSG00000014216																																					0													41.0	49.0	47.0					11																	64972271		2063	4187	6250	SO:0001583	missense	0			-	X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.1283G>A	11.37:g.64972271G>A	ENSP00000431984:p.Arg428His	1080	Q2TTR0|Q6DHV4	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.R428H	ENST00000527323.1	37	c.1283	CCDS44644.1	11	.	.	.	.	.	.	.	.	.	.	G	31	5.071192	0.93950	.	.	ENSG00000014216	ENST00000533820;ENST00000533129;ENST00000524773;ENST00000279247;ENST00000259755;ENST00000527323	D;D;D;D;D	0.88818	-2.43;-2.43;-2.43;-2.43;-2.43	4.51	3.59	0.41128	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.060868	0.64402	D	0.000003	D	0.93226	0.7842	M	0.88570	2.965	0.80722	D	1	D	0.69078	0.997	P	0.61592	0.891	D	0.92525	0.6028	10	0.87932	D	0	.	7.1029	0.25348	0.208:0.0:0.792:0.0	.	428	P07384	CAN1_HUMAN	H	428;428;428;428;374;428	ENSP00000435272:R428H;ENSP00000431686:R428H;ENSP00000434176:R428H;ENSP00000279247:R428H;ENSP00000431984:R428H	ENSP00000259755:R374H	R	+	2	0	CAPN1	64728847	1.000000	0.71417	1.000000	0.80357	0.917000	0.54804	6.694000	0.74587	1.022000	0.39626	0.563000	0.77884	CGT	-	CAPN1	-	pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III		0.637	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CAPN1	HGNC	protein_coding	OTTHUMT00000385325.1	0	0		35	35		0.00		G			64972271	+1	4		31		tier1	no_errors	ENST00000279247	ensembl	human	known	74_37	missense	11.43		SNP	1.000	A	4	31
GAREML	150946	genome.wustl.edu	37	2	26410411	26410411	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr2:26410411C>T	ENST00000401533.2	+	6	2040	c.1910C>T	c.(1909-1911)gCc>gTc	p.A637V	GAREML_ENST00000407684.1_Intron	NM_001168241.1	NP_001161713.1	Q75VX8	GAREL_HUMAN	GRB2 associated, regulator of MAPK1-like	637	Pro-rich.					extracellular vesicular exosome (GO:0070062)											TCCGGGCCTGCCTACCCCTCA	0.617													ENSG00000157833																																					0													84.0	73.0	76.0					2																	26410411		692	1591	2283	SO:0001583	missense	0			-	AK090454, AB015349, AB124552	CCDS54336.1, CCDS54337.1	2p23.3	2012-11-30	2012-11-30	2012-11-30	ENSG00000157833	ENSG00000157833			27172	protein-coding gene	gene with protein product			"""family with sequence similarity 59, member B"""	FAM59B			Standard	NM_001168241		Approved	KIAA2038, FLJ00375	uc002rgw.2	Q75VX8	OTTHUMG00000151935	ENST00000401533.2:c.1910C>T	2.37:g.26410411C>T	ENSP00000384593:p.Ala637Val		B5MC97|B7WNK9|Q8NF27|Q9UIK8	Missense_Mutation	SNP	superfamily_SAM/pointed	p.A637V	ENST00000401533.2	37	c.1910	CCDS54336.1	2	.	.	.	.	.	.	.	.	.	.	C	7.849	0.723619	0.15439	.	.	ENSG00000157833	ENST00000401533	T	0.15718	2.4	5.13	2.31	0.28768	.	0.806391	0.10690	N	0.645330	T	0.08582	0.0213	N	0.08118	0	0.80722	D	1	B	0.10296	0.003	B	0.06405	0.002	T	0.19321	-1.0309	10	0.30854	T	0.27	-5.2014	7.4548	0.27258	0.0:0.7075:0.1371:0.1554	.	637	Q75VX8	FA59B_HUMAN	V	637	ENSP00000384593:A637V	ENSP00000384593:A637V	A	+	2	0	FAM59B	26263915	0.038000	0.19896	0.305000	0.25099	0.043000	0.13939	1.056000	0.30480	0.178000	0.19917	-0.137000	0.14449	GCC	-	GAREML	-	NULL		0.617	GAREML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAREML	HGNC	protein_coding	OTTHUMT00000324498.2	0	0		42	42		0.00		C	NM_001168241		26410411	+1	4		45		tier1	no_errors	ENST00000401533	ensembl	human	known	74_37	missense	8.16		SNP	0.868	T	4	45
EPC1	80314	genome.wustl.edu	37	10	32635990	32635990	+	5'UTR	SNP	C	C	T			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr10:32635990C>T	ENST00000263062.8	-	0	123				EPC1_ENST00000319778.6_5'UTR|RP11-135A24.4_ENST00000412085.1_RNA|AL391839.1_ENST00000410377.1_RNA|EPC1_ENST00000375110.2_Intron|EPC1_ENST00000480402.1_5'UTR|RP11-135A24.2_ENST00000417447.1_RNA	NM_025209.2	NP_079485.1	Q9H2F5	EPC1_HUMAN	enhancer of polycomb homolog 1 (Drosophila)						chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of growth (GO:0040008)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Piccolo NuA4 histone acetyltransferase complex (GO:0032777)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				GCACTAACACCAGCCGGGAGG	0.667													ENSG00000233825																																					0																																										SO:0001623	5_prime_UTR_variant	0			-	AF277374	CCDS7172.1, CCDS60511.1, CCDS73083.1	10p11	2005-12-12			ENSG00000120616	ENSG00000120616			19876	protein-coding gene	gene with protein product		610999				10976108	Standard	NM_025209		Approved	Epl1	uc001iwg.2	Q9H2F5	OTTHUMG00000017925	ENST00000263062.8:c.-147G>A	10.37:g.32635990C>T			B4DSC3|D3DRX7|Q5VW54|Q5VW56|Q5VW58|Q8NAQ4|Q8NE21|Q96LF4|Q96RR6|Q9H7T7	R	SNP	-	NULL	ENST00000263062.8	37	NULL	CCDS7172.1	10																																																																																			-	RP11-135A24.4	-	-		0.667	EPC1-004	KNOWN	basic|CCDS	protein_coding	ENSG00000233825	Clone_based_vega_gene	protein_coding	OTTHUMT00000047484.1	0	0		36	36		0.00		C			32635990	+1	4		37		tier1	no_errors	ENST00000412085	ensembl	human	known	74_37	rna	9.76		SNP	0.988	T	4	37
DUSP19	142679	genome.wustl.edu	37	2	183948142	183948142	+	Intron	DEL	T	T	-	rs533797314	byFrequency	TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr2:183948142delT	ENST00000354221.4	+	2	401				AC064871.3_ENST00000444562.1_RNA|DUSP19_ENST00000342619.6_Intron|DUSP19_ENST00000469344.1_Intron	NM_080876.3	NP_543152.1	Q8WTR2	DUS19_HUMAN	dual specificity phosphatase 19						inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase activity (GO:0045860)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)	JUN kinase phosphatase activity (GO:0008579)|MAP-kinase scaffold activity (GO:0005078)|mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein kinase activator activity (GO:0030295)|protein kinase inhibitor activity (GO:0004860)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/threonine phosphatase activity (GO:0008330)			breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(4)|pancreas(1)	17						GTTGTTGGTCTTTTTTTTTTA	0.323													ENSG00000224643	|||unknown(HR)	19	0.00379393	0.0061	0.0014	5008	,	,		15233	0.002		0.0	False		,,,				2504	0.0082																0																																										SO:0001627	intron_variant	0				AB038770	CCDS2289.1, CCDS46469.1	2q32.1	2011-06-09			ENSG00000162999	ENSG00000162999		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	18894	protein-coding gene	gene with protein product		611437					Standard	NM_080876		Approved	SKRP1, DUSP17	uc002upd.3	Q8WTR2	OTTHUMG00000132622	ENST00000354221.4:c.227-94T>-	2.37:g.183948142delT			B2RA79|Q547H4|Q8WYN4	R	DEL	-	NULL	ENST00000354221.4	37	NULL	CCDS2289.1	2																																																																																				AC064871.3	-	-		0.323	DUSP19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000224643	Clone_based_vega_gene	protein_coding	OTTHUMT00000255866.1	0	0		25	25		0.00		T			183948142	-1	3		11		tier1	no_errors	ENST00000444562	ensembl	human	known	74_37	rna	21.43		DEL	0.000	-	3	11
SYTL2	54843	genome.wustl.edu	37	11	85436022	85436022	+	Intron	SNP	G	G	A	rs201893430		TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr11:85436022G>A	ENST00000528231.1	-	7	1737				SYTL2_ENST00000525423.1_Missense_Mutation_p.T493M|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.T493M|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000359152.5_Missense_Mutation_p.T1017M|SYTL2_ENST00000527523.1_Intron	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TGAGCTAAGCGTCTGGTCTGA	0.423													ENSG00000137501																																					0								G	,,,MET/THR,MET/THR	0,4406		0,0,2203	100.0	95.0	97.0		,,,1478,1478	-3.0	0.0	11		97	2,8596	2.2+/-6.3	0,2,4297	yes	intron,intron,intron,missense,missense	SYTL2	NM_001162951.1,NM_001162953.1,NM_032943.3,NM_206927.2,NM_206928.2	,,,81,81	0,2,6500	AA,AG,GG		0.0233,0.0,0.0154	,,,probably-damaging,probably-damaging	,,,493/1273,493/1257	85436022	2,13002	2203	4299	6502	SO:0001627	intron_variant	0			-	AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+2916C>T	11.37:g.85436022G>A			B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	p.T1017M	ENST00000528231.1	37	c.3050	CCDS53688.1	11	.	.	.	.	.	.	.	.	.	.	G	5.307	0.242038	0.10077	0.0	2.33E-4	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000525423	T;T;T	0.26810	1.71;1.72;1.72	5.65	-2.96	0.05547	.	1.095400	0.06913	N	0.807946	T	0.18964	0.0455	L	0.27053	0.805	0.09310	N	1	D;D;D	0.59357	0.985;0.985;0.985	P;P;P	0.48952	0.596;0.596;0.596	T	0.10019	-1.0648	9	.	.	.	5.6332	2.5496	0.04745	0.2083:0.362:0.3156:0.1141	.	493;493;493	Q9HCH5-11;Q9HCH5-7;Q9HCH5-8	.;.;.	M	1017;493;493	ENSP00000352065:T1017M;ENSP00000346576:T493M;ENSP00000432694:T493M	.	T	-	2	0	SYTL2	85113670	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.824000	0.04438	-0.776000	0.04578	0.655000	0.94253	ACG	rs201893430	SYTL2	-	NULL		0.423	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1	0	0		37	37		0.00		G	NM_206927		85436022	-1	5		22		tier1	no_errors	ENST00000359152	ensembl	human	known	74_37	missense	18.52		SNP	0.000	A	5	22
ESRP1	54845	genome.wustl.edu	37	8	95680252	95680252	+	Missense_Mutation	SNP	C	C	T	rs577759452		TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr8:95680252C>T	ENST00000433389.2	+	10	1197	c.1007C>T	c.(1006-1008)aCg>aTg	p.T336M	ESRP1_ENST00000358397.5_Missense_Mutation_p.T336M|ESRP1_ENST00000423620.2_Missense_Mutation_p.T336M|ESRP1_ENST00000454170.2_Missense_Mutation_p.T336M	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	336	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						CTCCCTTTCACGGCCACAGCT	0.507													ENSG00000104413																																					0													69.0	69.0	69.0					8																	95680252		1908	4106	6014	SO:0001583	missense	0			-	AK000178	CCDS47895.1, CCDS47896.1, CCDS47897.1, CCDS47898.1	8q22.1	2013-02-12	2009-03-10	2009-03-10	ENSG00000104413	ENSG00000104413		"""RNA binding motif (RRM) containing"""	25966	protein-coding gene	gene with protein product		612959	"""RNA binding motif protein 35A"""	RBM35A		12477932	Standard	NM_017697		Approved	FLJ20171	uc003ygq.4	Q6NXG1	OTTHUMG00000164587	ENST00000433389.2:c.1007C>T	8.37:g.95680252C>T	ENSP00000405738:p.Thr336Met		A6NHA8|A8MPX1|E9PB47|Q2M2B0|Q499G3|Q6PJ86|Q9NXL8	Missense_Mutation	SNP	superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom	p.T336M	ENST00000433389.2	37	c.1007	CCDS47897.1	8	.	.	.	.	.	.	.	.	.	.	C	20.4	3.982133	0.74474	.	.	ENSG00000104413	ENST00000423620;ENST00000433389;ENST00000358397;ENST00000454170;ENST00000517610	T;T;T;T;T	0.09538	2.97;2.97;2.97;2.97;2.97	5.78	5.78	0.91487	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.091853	0.85682	D	0.000000	T	0.39708	0.1088	M	0.88775	2.98	0.43250	D	0.995171	D;D;D;D;D;D	0.89917	1.0;0.998;0.985;0.994;0.996;0.999	D;D;P;D;P;D	0.79784	0.993;0.962;0.865;0.917;0.865;0.978	T	0.36866	-0.9730	10	0.87932	D	0	-11.1758	14.6968	0.69129	0.1795:0.8205:0.0:0.0	.	336;336;336;336;336;336	D7PBN3;Q6NXG1-4;Q6NXG1-2;E9PB47;Q6NXG1-3;Q6NXG1	.;.;.;.;.;ESRP1_HUMAN	M	336;336;336;336;195	ENSP00000407349:T336M;ENSP00000405738:T336M;ENSP00000351168:T336M;ENSP00000402766:T336M;ENSP00000429125:T195M	ENSP00000351168:T336M	T	+	2	0	ESRP1	95749428	0.981000	0.34729	0.962000	0.40283	0.994000	0.84299	2.650000	0.46665	2.724000	0.93272	0.563000	0.77884	ACG	-	ESRP1	-	smart_RRM_dom,pfscan_RRM_dom		0.507	ESRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ESRP1	HGNC	protein_coding	OTTHUMT00000379326.1	0	0		26	26		0.00		C	NM_017697		95680252	+1	3		18		tier1	no_errors	ENST00000433389	ensembl	human	known	74_37	missense	14.29		SNP	0.995	T	3	18
LINC00266-1	140849	genome.wustl.edu	37	20	62934877	62934877	+	RNA	SNP	C	C	T	rs10460610		TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr20:62934877C>T	ENST00000279067.3	+	0	893					NR_040415.1				long intergenic non-protein coding RNA 266-1																		GATTTATTGCCGGAGACATTT	0.338													ENSG00000149656																																					0																																												0			-	BC118988		20q13.33	2012-10-12	2011-08-11	2011-08-11	ENSG00000149656	ENSG00000149656		"""Long non-coding RNAs"""	16202	non-coding RNA	RNA, long non-coding			"""chromosome 20 open reading frame 69"", ""non-protein coding RNA 266"", ""non-protein coding RNA 266-1"""	C20orf69, NCRNA00266, NCRNA00266-1			Standard	NR_040415		Approved	bA476I15.3	uc002yio.1		OTTHUMG00000033036		20.37:g.62934877C>T				R	SNP	-	NULL	ENST00000279067.3	37	NULL		20																																																																																			-	LINC00266-1	-	-		0.338	LINC00266-1-001	KNOWN	basic	processed_transcript	LINC00266-1	HGNC	processed_transcript	OTTHUMT00000080304.2	0	0		39	39		0.00		C			62934877	+1	4		24		tier1	no_errors	ENST00000279067	ensembl	human	known	74_37	rna	14.29		SNP	0.886	T	4	24
SF3B1	23451	genome.wustl.edu	37	2	198265477	198265477	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr2:198265477C>G	ENST00000335508.6	-	18	2771	c.2680G>C	c.(2680-2682)Gat>Cat	p.D894H	SF3B1_ENST00000462613.1_5'Flank	NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	894					anterior/posterior pattern specification (GO:0009952)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)|U12-type spliceosomal complex (GO:0005689)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGAATACCATCAATCAGTTGT	0.333			Mis		myelodysplastic syndrome								ENSG00000115524																												Dom	yes		2	2q33.1	23451	"""splicing factor 3b, subunit 1, 155kDa"""		L	0													145.0	142.0	143.0					2																	198265477		2203	4299	6502	SO:0001583	missense	0			-	AF054284	CCDS33356.1, CCDS46479.1	2q33.1	2014-09-17	2002-08-29		ENSG00000115524	ENSG00000115524			10768	protein-coding gene	gene with protein product		605590	"""splicing factor 3b, subunit 1, 155kD"""			9585501	Standard	XM_005246428		Approved	SAP155, SF3b155, PRPF10, Prp10, Hsh155	uc002uue.3	O75533	OTTHUMG00000154447	ENST00000335508.6:c.2680G>C	2.37:g.198265477C>G	ENSP00000335321:p.Asp894His		E9PCH3	Missense_Mutation	SNP	pfam_SF3b_su1,superfamily_ARM-type_fold	p.D894H	ENST00000335508.6	37	c.2680	CCDS33356.1	2	.	.	.	.	.	.	.	.	.	.	C	24.7	4.563608	0.86335	.	.	ENSG00000115524	ENST00000335508	T	0.68331	-0.32	5.71	5.71	0.89125	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.88897	0.6562	H	0.96916	3.905	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.91728	0.5394	10	0.87932	D	0	.	20.2175	0.98301	0.0:1.0:0.0:0.0	.	894	O75533	SF3B1_HUMAN	H	894	ENSP00000335321:D894H	ENSP00000335321:D894H	D	-	1	0	SF3B1	197973722	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.717000	0.84732	2.850000	0.98022	0.655000	0.94253	GAT	-	SF3B1	-	superfamily_ARM-type_fold		0.333	SF3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SF3B1	HGNC	protein_coding	OTTHUMT00000335245.2	0	0		34	34		0.00		C			198265477	-1	4		14		tier1	no_errors	ENST00000335508	ensembl	human	known	74_37	missense	22.22		SNP	1.000	G	4	14
PPP1R37	284352	genome.wustl.edu	37	19	45645655	45645655	+	Silent	SNP	G	G	A			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr19:45645655G>A	ENST00000221462.4	+	7	1177	c.813G>A	c.(811-813)ctG>ctA	p.L271L	PPP1R37_ENST00000421905.1_Silent_p.L271L	NM_019121.1	NP_061994.1	O75864	PPR37_HUMAN	protein phosphatase 1, regulatory subunit 37	271					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										TGGGTAACCTGCTCAAGTTCA	0.632													ENSG00000104866																																					0																																										SO:0001819	synonymous_variant	0			-	BC035704	CCDS56096.1	19q13.32	2012-04-17	2011-10-11	2011-10-11	ENSG00000104866	ENSG00000104866		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	27607	protein-coding gene	gene with protein product			"""leucine rich repeat containing 68"""	LRRC68		12477932	Standard	NM_019121		Approved		uc021uvs.1	O75864	OTTHUMG00000168143	ENST00000221462.4:c.813G>A	19.37:g.45645655G>A			B5MDA4|Q8IWK3|Q8TF16	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.L271	ENST00000221462.4	37	c.813	CCDS56096.1	19																																																																																			-	PPP1R37	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.632	PPP1R37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R37	HGNC	protein_coding	OTTHUMT00000398356.2	0	0		38	38		0.00		G	NM_173634		45645655	+1	4		39		tier1	no_errors	ENST00000221462	ensembl	human	known	74_37	silent	9.30		SNP	1.000	A	4	39
GALNT18	374378	genome.wustl.edu	37	11	11348716	11348716	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr11:11348716G>T	ENST00000227756.4	-	9	1840	c.1429C>A	c.(1429-1431)Ctg>Atg	p.L477M		NM_198516.2	NP_940918.2	Q6P9A2	GLT18_HUMAN	polypeptide N-acetylgalactosaminyltransferase 18	477	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)										TCAGTCTTCAGAGAATTCTGC	0.468													ENSG00000110328																																					0													97.0	87.0	90.0					11																	11348716		2201	4294	6495	SO:0001583	missense	0			-	AK055111	CCDS7807.1	11p15	2014-03-13	2014-03-13	2013-01-25	ENSG00000110328	ENSG00000110328	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	30488	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 18"""	615136	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4"", ""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 18"""	GALNTL4		22186971	Standard	NM_198516		Approved	MGC71806, GALNT15, GalNAc-T18	uc001mjo.2	Q6P9A2	OTTHUMG00000165707	ENST00000227756.4:c.1429C>A	11.37:g.11348716G>T	ENSP00000227756:p.Leu477Met		O95903|Q8NDY9	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.L477M	ENST00000227756.4	37	c.1429	CCDS7807.1	11	.	.	.	.	.	.	.	.	.	.	G	15.59	2.877541	0.51801	.	.	ENSG00000110328	ENST00000227756	T	0.26810	1.71	5.62	4.71	0.59529	Ricin B-related lectin (1);Ricin B lectin (3);	0.000000	0.64402	D	0.000015	T	0.43567	0.1253	M	0.73217	2.22	0.42249	D	0.991967	D	0.76494	0.999	D	0.75020	0.985	T	0.36890	-0.9729	10	0.34782	T	0.22	.	6.4474	0.21883	0.1602:0.1507:0.6891:0.0	.	477	Q6P9A2	GLTL4_HUMAN	M	477	ENSP00000227756:L477M	ENSP00000227756:L477M	L	-	1	2	GALNTL4	11305292	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.909000	0.39917	1.367000	0.46095	0.563000	0.77884	CTG	-	GALNT18	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin		0.468	GALNT18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT18	HGNC	protein_coding	OTTHUMT00000385848.1	0	0		42	42		0.00		G	NM_198516		11348716	-1	3		21		tier1	no_errors	ENST00000227756	ensembl	human	known	74_37	missense	12.50		SNP	1.000	T	3	21
LOC101930127	101930127	genome.wustl.edu	37	11	134722	134722	+	RNA	SNP	G	G	T			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr11:134722G>T	ENST00000527297.1	+	0	235																											ATAGGCCATTGTGAGTCATGA	0.552													ENSG00000230724																																					0																																												0			-																													11.37:g.134722G>T				R	SNP	-	NULL	ENST00000527297.1	37	NULL		11																																																																																			-	LINC01001	-	-		0.552	RP11-304M2.3-001	KNOWN	basic	antisense	LINC01001	HGNC	antisense	OTTHUMT00000384758.1	0	0		8	8		0.00		G			134722	-1	4		5		tier1	no_errors	ENST00000527683	ensembl	human	known	74_37	rna	44.44		SNP	0.193	T	4	5
PATL1	219988	genome.wustl.edu	37	11	59423447	59423447	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr11:59423447C>A	ENST00000300146.9	-	7	879	c.795G>T	c.(793-795)caG>caT	p.Q265H		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	265	Involved in RNA-binding.|Involved in nuclear foci localization.|Pro-rich.|Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly (GO:0033962)|deadenylation-dependent decapping of nuclear-transcribed mRNA (GO:0000290)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						CTCCAAGAAGCTGTGCTCTCT	0.433													ENSG00000166889																																					0													13.0	13.0	13.0					11																	59423447		1833	4072	5905	SO:0001583	missense	0			-	AK094193	CCDS44613.1	11q12.1	2012-06-07	2007-10-18		ENSG00000166889	ENSG00000166889			26721	protein-coding gene	gene with protein product		614660				17936923	Standard	NM_152716		Approved	FLJ36874, Pat1b	uc001noe.4	Q86TB9	OTTHUMG00000167423	ENST00000300146.9:c.795G>T	11.37:g.59423447C>A	ENSP00000300146:p.Gln265His		B3KXT9|Q2TA86|Q6P166|Q8N9M6|Q8NI63	Missense_Mutation	SNP	pfam_Topo_II-assoc_PAT1	p.Q265H	ENST00000300146.9	37	c.795	CCDS44613.1	11	.	.	.	.	.	.	.	.	.	.	C	10.72	1.428889	0.25726	.	.	ENSG00000166889	ENST00000300146	T	0.49720	0.77	4.91	3.02	0.34903	.	0.122371	0.56097	D	0.000029	T	0.57519	0.2059	L	0.52573	1.65	0.50813	D	0.999898	D	0.67145	0.996	D	0.79108	0.992	T	0.53229	-0.8468	10	0.33940	T	0.23	-2.1304	9.8957	0.41318	0.0:0.8315:0.0:0.1685	.	265	Q86TB9	PATL1_HUMAN	H	265	ENSP00000300146:Q265H	ENSP00000300146:Q265H	Q	-	3	2	PATL1	59180023	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.733000	0.47360	1.044000	0.40200	0.655000	0.94253	CAG	-	PATL1	-	pfam_Topo_II-assoc_PAT1		0.433	PATL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATL1	HGNC	protein_coding	OTTHUMT00000394559.1	0	0		38	38		0.00		C	NM_152716		59423447	-1	4		39		tier1	no_errors	ENST00000300146	ensembl	human	known	74_37	missense	9.30		SNP	1.000	A	4	39
ZNF232	7775	genome.wustl.edu	37	17	5009410	5009410	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr17:5009410C>A	ENST00000250076.3	-	5	1698	c.1044G>T	c.(1042-1044)caG>caT	p.Q348H	ZNF232_ENST00000575898.1_Missense_Mutation_p.Q339H|ZNF232_ENST00000575538.1_5'Flank|ZNF232_ENST00000416429.2_3'UTR	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	321					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						TTCTCTGATGCTGACCGAGGT	0.448													ENSG00000167840																																					0													109.0	111.0	110.0					17																	5009410		2203	4300	6503	SO:0001583	missense	0			-	AF080169	CCDS11068.1	17p13.2	2013-01-09			ENSG00000167840	ENSG00000167840		"""-"", ""Zinc fingers, C2H2-type"""	13026	protein-coding gene	gene with protein product						11311944	Standard	NM_014519		Approved	ZSCAN11	uc002gat.3	Q9UNY5	OTTHUMG00000099450	ENST00000250076.3:c.1044G>T	17.37:g.5009410C>A	ENSP00000250076:p.Gln348His			Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.Q348H	ENST00000250076.3	37	c.1044	CCDS11068.1	17	.	.	.	.	.	.	.	.	.	.	C	11.59	1.685424	0.29872	.	.	ENSG00000167840	ENST00000250076	T	0.18338	2.22	2.83	0.799	0.18667	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.285508	0.19030	N	0.124565	T	0.12092	0.0294	L	0.39566	1.225	0.80722	D	1	B;B	0.28801	0.152;0.223	B;B	0.26517	0.07;0.042	T	0.10245	-1.0638	10	0.42905	T	0.14	.	6.9575	0.24580	0.0:0.7526:0.0:0.2474	.	321;312	Q9UNY5;Q9UNY5-2	ZN232_HUMAN;.	H	348	ENSP00000250076:Q348H	ENSP00000250076:Q348H	Q	-	3	2	ZNF232	4950134	0.000000	0.05858	1.000000	0.80357	0.995000	0.86356	-3.745000	0.00377	0.250000	0.21479	0.655000	0.94253	CAG	-	ZNF232	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.448	ZNF232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF232	HGNC	protein_coding	OTTHUMT00000216915.1	0	0		26	26		0.00		C	NM_014519		5009410	-1	3		16		tier1	no_errors	ENST00000250076	ensembl	human	known	74_37	missense	15.79		SNP	0.287	A	3	16
NLRC4	58484	genome.wustl.edu	37	2	32449835	32449835	+	Splice_Site	SNP	C	C	T			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr2:32449835C>T	ENST00000404025.2	-	10	3271		c.e10-1		NLRC4_ENST00000402280.1_Splice_Site|NLRC4_ENST00000360906.5_Splice_Site|NLRC4_ENST00000342905.6_Splice_Site			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AAAAATGCACCTGGGTAAAGA	0.333													ENSG00000091106																																					0													34.0	36.0	36.0					2																	32449835		2203	4300	6503	SO:0001630	splice_region_variant	0			-	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.2783-1G>A	2.37:g.32449835C>T			A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Splice_Site	SNP	-	e8-1	ENST00000404025.2	37	c.2783-1	CCDS33174.1	2	.	.	.	.	.	.	.	.	.	.	C	8.888	0.953232	0.18431	.	.	ENSG00000091106	ENST00000360906;ENST00000402280;ENST00000342905;ENST00000404025	.	.	.	4.15	3.26	0.37387	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3732	0.49713	0.0:0.8155:0.1845:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NLRC4	32303339	0.999000	0.42202	0.684000	0.30055	0.281000	0.26958	1.571000	0.36450	1.088000	0.41272	0.655000	0.94253	.	-	NLRC4	-	-		0.333	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	NLRC4	HGNC	protein_coding	OTTHUMT00000325222.2	0	0		52	52		0.00		C	NM_021209	Intron	32449835	-1	4		24		tier1	no_errors	ENST00000360906	ensembl	human	known	74_37	splice_site	14.29		SNP	0.686	T	4	24
TMX4	56255	genome.wustl.edu	37	20	7962918	7962918	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr20:7962918G>T	ENST00000246024.2	-	8	1245	c.1030C>A	c.(1030-1032)Cat>Aat	p.H344N		NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	344					cell redox homeostasis (GO:0045454)|oxidation-reduction process (GO:0055114)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						TTGTCAGCATGCTGACTTTTA	0.483													ENSG00000125827																																					0													77.0	69.0	72.0					20																	7962918		2203	4300	6503	SO:0001583	missense	0			-		CCDS13101.1	20p12	2011-10-19	2009-02-23	2009-02-23	ENSG00000125827	ENSG00000125827		"""Protein disulfide isomerases"""	25237	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 14"""		"""thioredoxin domain containing 13"""	TXNDC13			Standard	NM_021156		Approved	DJ971N18.2, KIAA1162, PDIA14	uc002wmx.1	Q9H1E5	OTTHUMG00000031843	ENST00000246024.2:c.1030C>A	20.37:g.7962918G>T	ENSP00000246024:p.His344Asn		Q8N4P7|Q8NCC1|Q9UJA1|Q9ULQ8	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.H344N	ENST00000246024.2	37	c.1030	CCDS13101.1	20	.	.	.	.	.	.	.	.	.	.	G	5.102	0.204421	0.09704	.	.	ENSG00000125827	ENST00000246024	T	0.09911	2.93	5.84	-0.264	0.12950	.	1.571930	0.03189	N	0.173131	T	0.06872	0.0175	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.32134	-0.9918	10	0.10636	T	0.68	0.0174	3.0805	0.06260	0.0826:0.1997:0.3261:0.3915	.	344	Q9H1E5	TMX4_HUMAN	N	344	ENSP00000246024:H344N	ENSP00000246024:H344N	H	-	1	0	TMX4	7910918	0.322000	0.24634	0.270000	0.24601	0.145000	0.21501	0.808000	0.27154	0.349000	0.23975	0.557000	0.71058	CAT	-	TMX4	-	NULL		0.483	TMX4-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TMX4	HGNC	protein_coding	OTTHUMT00000077928.2	0	0		24	24		0.00		G	NM_021156		7962918	-1	4		27		tier1	no_errors	ENST00000246024	ensembl	human	known	74_37	missense	12.90		SNP	0.012	T	4	27
PCLO	27445	genome.wustl.edu	37	7	82578847	82578847	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr7:82578847C>A	ENST00000333891.9	-	6	11394	c.11057G>T	c.(11056-11058)aGt>aTt	p.S3686I	PCLO_ENST00000423517.2_Missense_Mutation_p.S3686I|PCLO_ENST00000437081.1_Missense_Mutation_p.S406I	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGCTGTTGGACTCAGAGGCTT	0.473													ENSG00000186472																																					0													203.0	197.0	199.0					7																	82578847		1930	4150	6080	SO:0001583	missense	0			-	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.11057G>T	7.37:g.82578847C>A	ENSP00000334319:p.Ser3686Ile			Missense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ	p.S3686I	ENST00000333891.9	37	c.11057	CCDS47630.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.233782	0.95207	.	.	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517;ENST00000437081	T;T	0.52057	0.68;0.7	5.92	5.92	0.95590	.	.	.	.	.	T	0.71517	0.3349	M	0.74647	2.275	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.999	T	0.72646	-0.4230	9	0.87932	D	0	.	20.3172	0.98658	0.0:1.0:0.0:0.0	.	3617;3686;3686	Q9Y6V0;Q9Y6V0-5;Q9Y6V0-6	PCLO_HUMAN;.;.	I	3617;3686;3686;406	ENSP00000334319:S3686I;ENSP00000388393:S3686I	ENSP00000334319:S3686I	S	-	2	0	PCLO	82416783	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.792000	0.85828	2.801000	0.96364	0.650000	0.86243	AGT	-	PCLO	-	NULL		0.473	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	0	0		34	34		0.00		C	NM_014510		82578847	-1	14		8		tier1	no_errors	ENST00000333891	ensembl	human	known	74_37	missense	63.64		SNP	1.000	A	14	8
NUDCD2	134492	genome.wustl.edu	37	5	162884088	162884089	+	Splice_Site	INS	-	-	A			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr5:162884088_162884089insA	ENST00000302764.4	-	3	328		c.e3-2		NUDCD2_ENST00000517501.1_Intron|NUDCD2_ENST00000519395.1_Splice_Site	NM_145266.4	NP_660309.1	Q8WVJ2	NUDC2_HUMAN	NudC domain containing 2							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|kinetochore (GO:0000776)|microtubule cytoskeleton (GO:0015630)				large_intestine(1)|prostate(1)	2	Renal(175;0.000281)	Medulloblastoma(196;0.0207)|all_neural(177;0.0966)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0981)|OV - Ovarian serous cystadenocarcinoma(192;0.183)|Epithelial(171;0.247)		TTCTGTCCTCTAAAAAAAAAAC	0.366													ENSG00000170584																																					0																																										SO:0001630	splice_region_variant	0				BX538290	CCDS4361.1	5q34	2008-02-05			ENSG00000170584	ENSG00000170584			30535	protein-coding gene	gene with protein product							Standard	NM_145266		Approved	DKFZp686E10109	uc003lze.3	Q8WVJ2	OTTHUMG00000130378	ENST00000302764.4:c.239-2->T	5.37:g.162884098_162884098dupA			B2R4V0	Splice_Site	INS	-	e3-2	ENST00000302764.4	37	c.239-3_239-2	CCDS4361.1	5																																																																																				NUDCD2	-	-		0.366	NUDCD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDCD2	HGNC	protein_coding	OTTHUMT00000252747.3	0	0		40	40		0.00		-	NM_145266	Intron	162884089	-1	3		21		tier1	no_errors	ENST00000302764	ensembl	human	known	74_37	splice_site_ins	12.50		INS	0.984:0.001	A	3	21
MGA	23269	genome.wustl.edu	37	15	41989180	41989180	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr15:41989180G>T	ENST00000570161.1	+	2	1972	c.1972G>T	c.(1972-1974)Gaa>Taa	p.E658*	MGA_ENST00000219905.7_Nonsense_Mutation_p.E658*|MGA_ENST00000566586.1_Nonsense_Mutation_p.E658*|MGA_ENST00000389936.4_Nonsense_Mutation_p.E658*|MGA_ENST00000545763.1_Nonsense_Mutation_p.E658*			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0	Maltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)	Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GCCTGATCTGGAAGATGTGGA	0.388													ENSG00000174197																																					0													17.0	15.0	16.0					15																	41989180		1844	4025	5869	SO:0001587	stop_gained	0			-	AB011090	CCDS55959.1, CCDS55960.1	15q15	2012-11-15	2012-11-15		ENSG00000174197	ENSG00000174197		"""MAX dimerization proteins"", ""T-boxes"""	14010	protein-coding gene	gene with protein product			"""MAX gene associated"""				Standard	NM_001080541		Approved	KIAA0518, MAD5, MXD5, FLJ12634	uc010ucy.2	Q8IWI9		ENST00000570161.1:c.1972G>T	15.37:g.41989180G>T	ENSP00000457035:p.Glu658*		Q0VAX6|Q75ME7|Q86UM5	Nonsense_Mutation	SNP	pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_D-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box	p.E658*	ENST00000570161.1	37	c.1972	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	G	38	6.891765	0.97916	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	.	.	.	5.21	5.21	0.72293	.	1.845040	0.01992	N	0.045562	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	18.7687	0.91882	0.0:0.0:1.0:0.0	.	.	.	.	X	658	.	ENSP00000219905:E658X	E	+	1	0	MGA	39776472	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.159000	0.77483	2.441000	0.82636	0.462000	0.41574	GAA	-	MGA	-	NULL		0.388	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	0	0		49	49		0.00		G	NM_001164273.1		41989180	+1	4		46		tier1	no_errors	ENST00000219905	ensembl	human	known	74_37	nonsense	8.00		SNP	1.000	T	4	46
AC015849.16	0	genome.wustl.edu	37	17	34236276	34236276	+	lincRNA	SNP	G	G	A			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr17:34236276G>A	ENST00000587132.1	-	0	1751																											TGAACCTGGTGTGGATGTGGA	0.443													ENSG00000266999																																					0																																												0			-																													17.37:g.34236276G>A				R	SNP	-	NULL	ENST00000587132.1	37	NULL		17																																																																																			-	AC015849.16	-	-		0.443	AC015849.16-001	KNOWN	basic	lincRNA	ENSG00000266999	Clone_based_vega_gene	lincRNA	OTTHUMT00000449325.1	0	0		49	49		0.00		G			34236276	-1	3		18		tier1	no_errors	ENST00000587132	ensembl	human	known	74_37	rna	14.29		SNP	0.002	A	3	18
NADSYN1	55191	genome.wustl.edu	37	11	71194034	71194034	+	Silent	SNP	G	G	T	rs368772709		TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr11:71194034G>T	ENST00000319023.2	+	14	1478	c.1290G>T	c.(1288-1290)cgG>cgT	p.R430R	NADSYN1_ENST00000539574.1_Silent_p.R170R|NADSYN1_ENST00000526039.2_3'UTR|NADSYN1_ENST00000530055.1_Silent_p.R59R	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	430	Ligase. {ECO:0000250}.				NAD biosynthetic process (GO:0009435)|NAD metabolic process (GO:0019674)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ATP binding (GO:0005524)|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|NAD+ synthase (glutamine-hydrolyzing) activity (GO:0003952)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamine(DB00130)	CGTGCACCCGGGCCAGAGAGT	0.602													ENSG00000172890																									Ovarian(79;763 1781 6490 50276)												0								G		1,4399	2.1+/-5.4	0,1,2199	92.0	84.0	87.0		1290	-1.5	0.1	11		87	0,8588		0,0,4294	no	coding-synonymous	NADSYN1	NM_018161.4		0,1,6493	TT,TG,GG		0.0,0.0227,0.0077		430/707	71194034	1,12987	2200	4294	6494	SO:0001819	synonymous_variant	0			-	AB091316	CCDS8201.1	11q13.4	2008-02-05				ENSG00000172890			29832	protein-coding gene	gene with protein product		608285				12547821	Standard	NM_018161		Approved	FLJ10631	uc001oqn.3	Q6IA69		ENST00000319023.2:c.1290G>T	11.37:g.71194034G>T			B3KUU4|Q86SN2|Q9HA25|Q9NVM8	Silent	SNP	pfam_C-N_Hydrolase,pfam_D/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_D_synthase,pfscan_C-N_Hydrolase,tigrfam_D_synthase	p.R430	ENST00000319023.2	37	c.1290	CCDS8201.1	11																																																																																			-	DSYN1	-	pfam_D/GMP_synthase,pirsf_Gln-dep_D_synthase,tigrfam_D_synthase		0.602	NADSYN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSYN1	HGNC	protein_coding	OTTHUMT00000394356.1	0	0		26	26		0.00		G	NM_018161		71194034	+1	4		17		tier1	no_errors	ENST00000319023	ensembl	human	known	74_37	silent	19.05		SNP	0.981	T	4	17
MAP3K19	80122	genome.wustl.edu	37	2	135743708	135743708	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr2:135743708G>T	ENST00000375845.3	-	7	2764	c.2734C>A	c.(2734-2736)Caa>Aaa	p.Q912K	MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.Q929K|MAP3K19_ENST00000358371.4_Missense_Mutation_p.Q799K|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392918.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	912							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										GCACTTTCTTGTTTTGCTTGG	0.313													ENSG00000176601																																					0													66.0	66.0	66.0					2																	135743708		2203	4300	6503	SO:0001583	missense	0			-	AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.2734C>A	2.37:g.135743708G>T	ENSP00000365005:p.Gln912Lys		B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.Q912K	ENST00000375845.3	37	c.2734	CCDS2176.2	2	.	.	.	.	.	.	.	.	.	.	G	6.265	0.417062	0.11870	.	.	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915;ENST00000437365	T;T;T;T	0.71934	-0.48;-0.47;1.92;-0.61	5.01	3.12	0.35913	.	0.516802	0.16742	N	0.201405	T	0.60287	0.2257	L	0.42245	1.32	0.21604	N	0.999627	P;P;P	0.43938	0.822;0.822;0.728	B;B;B	0.41510	0.194;0.359;0.196	T	0.50608	-0.8808	10	0.23302	T	0.38	.	10.2749	0.43504	0.0787:0.1397:0.7815:0.0	.	799;929;912	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	K	912;799;929;302	ENSP00000365005:Q912K;ENSP00000351140:Q799K;ENSP00000376647:Q929K;ENSP00000392827:Q302K	ENSP00000351140:Q799K	Q	-	1	0	YSK4	135460178	0.008000	0.16893	0.594000	0.28785	0.252000	0.25951	1.522000	0.35921	2.594000	0.87642	0.455000	0.32223	CAA	-	MAP3K19	-	NULL		0.313	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K19	HGNC	protein_coding	OTTHUMT00000158244.1	0	0		42	42		0.00		G	NM_025052		135743708	-1	4		28		tier1	no_errors	ENST00000375845	ensembl	human	known	74_37	missense	12.50		SNP	0.006	T	4	28
GABRA4	2557	genome.wustl.edu	37	4	46930612	46930612	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-A8BQ-01A-11D-A37C-09	TCGA-DX-A8BQ-10A-01D-A37F-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq 2500	d3dc625e-3727-4265-87d7-9b2cf9404411	1fa50414-25db-4f96-a54c-62ff61f5f552	g.chr4:46930612C>A	ENST00000264318.3	-	9	2277	c.1295G>T	c.(1294-1296)aGt>aTt	p.S432I		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	432					central nervous system development (GO:0007417)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|regulation of response to drug (GO:2001023)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Acamprosate(DB00659)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)	TGGGTTTGGACTGGAAGCTAA	0.458													ENSG00000109158																									Ovarian(6;283 369 8234 12290 33402)												0													122.0	113.0	116.0					4																	46930612		2203	4300	6503	SO:0001583	missense	0			-		CCDS3473.1	4p12	2012-06-22			ENSG00000109158	ENSG00000109158		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4078	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 4"""	137141				7607683	Standard	NM_000809		Approved		uc021xnz.1	P48169	OTTHUMG00000099431	ENST00000264318.3:c.1295G>T	4.37:g.46930612C>A	ENSP00000264318:p.Ser432Ile		Q8IYR7	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa4_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.S432I	ENST00000264318.3	37	c.1295	CCDS3473.1	4	.	.	.	.	.	.	.	.	.	.	C	24.9	4.583100	0.86748	.	.	ENSG00000109158	ENST00000264318	D	0.86030	-2.06	5.71	5.71	0.89125	Neurotransmitter-gated ion-channel transmembrane domain (2);	1.634300	0.02925	N	0.138463	D	0.90590	0.7050	L	0.43152	1.355	0.49051	D	0.999741	D	0.67145	0.996	D	0.64877	0.93	T	0.77635	-0.2514	10	0.20519	T	0.43	.	17.0117	0.86408	0.0:1.0:0.0:0.0	.	432	P48169	GBRA4_HUMAN	I	432	ENSP00000264318:S432I	ENSP00000264318:S432I	S	-	2	0	GABRA4	46625369	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.110000	0.71535	2.706000	0.92434	0.650000	0.86243	AGT	-	GABRA4	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAa4_rcpt,tigrfam_Neur_channel		0.458	GABRA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA4	HGNC	protein_coding	OTTHUMT00000216893.1	0	0		40	40		0.00		C			46930612	-1	6		38		tier1	no_errors	ENST00000264318	ensembl	human	known	74_37	missense	13.33		SNP	1.000	A	6	38
