#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
APLF	200558	genome.wustl.edu	37	2	68765324	68765324	+	Silent	SNP	G	G	A			TCGA-A1-A0SE-01A-11D-A099-09	TCGA-A1-A0SE-10A-03D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0539776c-3943-41d0-972c-8dc833a603e5	880b9d9f-40bf-4a8a-bfb6-378842c4fb97	g.chr2:68765324G>A	ENST00000303795.4	+	7	1296	c.1125G>A	c.(1123-1125)aaG>aaA	p.K375K	APLF_ENST00000471727.1_3'UTR	NM_173545.2	NP_775816.1	Q8IW19	APLF_HUMAN	aprataxin and PNKP like factor	375					cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|positive regulation of DNA ligation (GO:0051106)|regulation of isotype switching (GO:0045191)|single strand break repair (GO:0000012)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|endodeoxyribonuclease activity (GO:0004520)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)	p.K375K(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						ACAAGGTCAAGAGGACATCCT	0.393																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											65.0	62.0	63.0					2																	68765324		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC030711	CCDS1888.1	2p14	2014-02-20	2008-10-01	2008-10-01	ENSG00000169621	ENSG00000169621			28724	protein-coding gene	gene with protein product	"""XRCC1-interacting protein 1"", ""zinc finger, CX5CX6HX5H motif containing 1"""	611035	"""chromosome 2 open reading frame 13"""	C2orf13		18474613, 18077224, 17353262	Standard	NM_173545		Approved	MGC47799, Xip1, ZCCHH1	uc002sep.3	Q8IW19	OTTHUMG00000129566	ENST00000303795.4:c.1125G>A	2.37:g.68765324G>A			A8K476|Q53P47|Q53PB9|Q53QU0	Silent	SNP	pfam_Znf_C2H2_APLF-like,superfamily_SMAD_FHA_domain	p.K375	ENST00000303795.4	37	c.1125	CCDS1888.1	2																																																																																			APLF	-	NULL	ENSG00000169621		0.393	APLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APLF	HGNC	protein_coding	OTTHUMT00000251759.1	67	0.00	0	G	NM_173545		68765324	68765324	+1	no_errors	ENST00000303795	ensembl	human	known	69_37n	silent	43	14.00	7	SNP	0.981	A
ARRDC4	91947	genome.wustl.edu	37	15	98513237	98513237	+	Missense_Mutation	SNP	T	T	C			TCGA-A1-A0SE-01A-11D-A099-09	TCGA-A1-A0SE-10A-03D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0539776c-3943-41d0-972c-8dc833a603e5	880b9d9f-40bf-4a8a-bfb6-378842c4fb97	g.chr15:98513237T>C	ENST00000268042.6	+	6	1171	c.1007T>C	c.(1006-1008)aTg>aCg	p.M336T	ARRDC4_ENST00000538249.1_Missense_Mutation_p.M249T	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	336					positive regulation of ubiquitin-protein transferase activity (GO:0051443)	endosome (GO:0005768)|plasma membrane (GO:0005886)		p.M336T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			AGTATGGATATGAGCTGGTTG	0.423																																						dbGAP											1	Substitution - Missense(1)	breast(1)											69.0	69.0	69.0					15																	98513237		2197	4298	6495	-	-	-	SO:0001583	missense	0			BC028704	CCDS10377.1	15q26.2	2005-08-16			ENSG00000140450	ENSG00000140450			28087	protein-coding gene	gene with protein product						12477932	Standard	NM_183376		Approved	FLJ36045	uc010bom.3	Q8NCT1	OTTHUMG00000149849	ENST00000268042.6:c.1007T>C	15.37:g.98513237T>C	ENSP00000268042:p.Met336Thr		Q6NSI9	Missense_Mutation	SNP	pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set	p.M336T	ENST00000268042.6	37	c.1007	CCDS10377.1	15	.	.	.	.	.	.	.	.	.	.	T	21.6	4.168252	0.78339	.	.	ENSG00000140450	ENST00000538249;ENST00000268042	T;T	0.06068	3.35;3.35	4.87	4.87	0.63330	Immunoglobulin E-set (1);	0.055923	0.64402	D	0.000001	T	0.13841	0.0335	M	0.77103	2.36	0.58432	D	0.999998	B;P	0.35272	0.361;0.493	B;B	0.39258	0.1;0.295	T	0.01143	-1.1438	10	0.59425	D	0.04	-9.1496	14.9385	0.70975	0.0:0.0:0.0:1.0	.	336;249	Q8NCT1;F5H824	ARRD4_HUMAN;.	T	249;336	ENSP00000443774:M249T;ENSP00000268042:M336T	ENSP00000268042:M336T	M	+	2	0	ARRDC4	96314241	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.852000	0.86927	2.167000	0.68274	0.528000	0.53228	ATG	ARRDC4	-	superfamily_Ig_E-set	ENSG00000140450		0.423	ARRDC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARRDC4	HGNC	protein_coding	OTTHUMT00000313535.1	87	0.00	0	T	NM_183376		98513237	98513237	+1	no_errors	ENST00000268042	ensembl	human	known	69_37n	missense	54	11.48	7	SNP	1.000	C
B3GNT1	11041	genome.wustl.edu	37	11	66114207	66114207	+	Missense_Mutation	SNP	C	C	A			TCGA-A1-A0SE-01A-11D-A099-09	TCGA-A1-A0SE-10A-03D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0539776c-3943-41d0-972c-8dc833a603e5	880b9d9f-40bf-4a8a-bfb6-378842c4fb97	g.chr11:66114207C>A	ENST00000311181.4	-	1	956	c.810G>T	c.(808-810)atG>atT	p.M270I	RP11-867G23.8_ENST00000531602.1_5'Flank|BRMS1_ENST00000425825.2_5'Flank|BRMS1_ENST00000359957.3_5'Flank	NM_006876.2	NP_006867.1	O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 1	270					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)	p.M270I(1)		breast(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(1)	12						CGTTTTTGTTCATGGGCATGC	0.617																																						dbGAP											1	Substitution - Missense(1)	breast(1)											65.0	71.0	69.0					11																	66114207		2200	4295	6495	-	-	-	SO:0001583	missense	0			AF029893	CCDS8136.1	11q13.2	2014-07-08	2006-04-12	2006-04-12	ENSG00000174684	ENSG00000174684	2.4.1.149	"""Beta 3-glycosyltransferases"""	15685	protein-coding gene	gene with protein product	"""N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase"""	605517	"""UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6"""	B3GNT6		9405606	Standard	NM_006876		Approved	iGNT, iGAT, iGnT, BETA3GNTI, B3GN-T1	uc001ohr.3	O43505	OTTHUMG00000167082	ENST00000311181.4:c.810G>T	11.37:g.66114207C>A	ENSP00000309096:p.Met270Ile		Q4TTN0	Missense_Mutation	SNP	NULL	p.M270I	ENST00000311181.4	37	c.810	CCDS8136.1	11	.	.	.	.	.	.	.	.	.	.	C	8.952	0.968337	0.18659	.	.	ENSG00000174684	ENST00000311181;ENST00000538757	T	0.21734	1.99	4.7	-2.21	0.06973	.	0.697642	0.14784	N	0.298660	T	0.10423	0.0255	N	0.14661	0.345	0.22961	N	0.998504	B	0.06786	0.001	B	0.04013	0.001	T	0.23261	-1.0193	10	0.40728	T	0.16	-2.4293	9.0213	0.36202	0.0:0.1947:0.6086:0.1968	.	270	O43505	B3GN1_HUMAN	I	270;41	ENSP00000309096:M270I	ENSP00000309096:M270I	M	-	3	0	B3GNT1	65870783	0.460000	0.25776	0.000000	0.03702	0.882000	0.50991	0.551000	0.23361	-0.314000	0.08716	0.563000	0.77884	ATG	B3GNT1	-	NULL	ENSG00000174684		0.617	B3GNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT1	HGNC	protein_coding	OTTHUMT00000392959.1	49	0.00	0	C	NM_006876		66114207	66114207	-1	no_errors	ENST00000311181	ensembl	human	known	69_37n	missense	62	13.89	10	SNP	0.644	A
C3orf38	285237	genome.wustl.edu	37	3	88205481	88205481	+	Missense_Mutation	SNP	A	A	T			TCGA-A1-A0SE-01A-11D-A099-09	TCGA-A1-A0SE-10A-03D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0539776c-3943-41d0-972c-8dc833a603e5	880b9d9f-40bf-4a8a-bfb6-378842c4fb97	g.chr3:88205481A>T	ENST00000318887.3	+	3	996	c.686A>T	c.(685-687)cAt>cTt	p.H229L	C3orf38_ENST00000486971.1_3'UTR	NM_173824.3	NP_776185.2	Q5JPI3	CC038_HUMAN	chromosome 3 open reading frame 38	229					apoptotic process (GO:0006915)			p.H227L(1)		breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		TCTTCTCCTCATGGGCTGGTT	0.443																																						dbGAP											1	Substitution - Missense(1)	breast(1)											131.0	126.0	127.0					3																	88205481		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832398	CCDS2921.1, CCDS2921.2	3p11.1	2011-01-25			ENSG00000179021	ENSG00000179021			28384	protein-coding gene	gene with protein product						12477932	Standard	NM_173824		Approved	MGC26717	uc003dqw.3	Q5JPI3	OTTHUMG00000155752	ENST00000318887.3:c.686A>T	3.37:g.88205481A>T	ENSP00000322469:p.His229Leu		B2R8X6|Q8TC85	Missense_Mutation	SNP	NULL	p.H229L	ENST00000318887.3	37	c.686	CCDS2921.2	3	.	.	.	.	.	.	.	.	.	.	A	21.0	4.084187	0.76642	.	.	ENSG00000179021	ENST00000318887	.	.	.	5.94	4.78	0.61160	.	0.045591	0.85682	D	0.000000	T	0.76990	0.4065	M	0.75615	2.305	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.78773	-0.2073	9	0.87932	D	0	-15.3816	11.3712	0.49699	0.9293:0.0:0.0707:0.0	.	229	Q5JPI3	CC038_HUMAN	L	229	.	ENSP00000322469:H229L	H	+	2	0	C3orf38	88288171	1.000000	0.71417	0.990000	0.47175	0.948000	0.59901	8.775000	0.91772	1.067000	0.40740	0.455000	0.32223	CAT	C3orf38	-	NULL	ENSG00000179021		0.443	C3orf38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf38	HGNC	protein_coding	OTTHUMT00000341513.1	180	0.00	0	A	NM_173824		88205481	88205481	+1	no_errors	ENST00000318887	ensembl	human	known	69_37n	missense	125	15.54	23	SNP	1.000	T
CDH1	999	genome.wustl.edu	37	16	68844139	68844139	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SE-01A-11D-A099-09	TCGA-A1-A0SE-10A-03D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0539776c-3943-41d0-972c-8dc833a603e5	880b9d9f-40bf-4a8a-bfb6-378842c4fb97	g.chr16:68844139G>A	ENST00000261769.5	+	6	918	c.727G>A	c.(727-729)Gag>Aag	p.E243K	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.E243K	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	243	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(4)|p.E243*(2)|p.E243K(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GAATGCAGTTGAGGATCCAAT	0.493			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	7	Unknown(4)|Substitution - Nonsense(2)|Substitution - Missense(1)	breast(7)											161.0	149.0	153.0					16																	68844139		2198	4300	6498	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.727G>A	16.37:g.68844139G>A	ENSP00000261769:p.Glu243Lys		A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E243K	ENST00000261769.5	37	c.727	CCDS10869.1	16	.	.	.	.	.	.	.	.	.	.	G	20.5	4.006465	0.74932	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.53857	0.6;0.6	5.22	5.22	0.72569	Cadherin (4);Cadherin-like (1);	0.000000	0.49916	D	0.000129	T	0.79137	0.4395	M	0.90870	3.155	0.80722	D	1	P;D	0.89917	0.955;1.0	P;D	0.87578	0.758;0.998	D	0.84040	0.0364	10	0.87932	D	0	.	17.9295	0.88992	0.0:0.0:1.0:0.0	.	243;243	Q9UII8;P12830	.;CADH1_HUMAN	K	243	ENSP00000261769:E243K;ENSP00000414946:E243K	ENSP00000261769:E243K	E	+	1	0	CDH1	67401640	1.000000	0.71417	0.566000	0.28421	0.030000	0.12068	9.476000	0.97823	2.592000	0.87571	0.557000	0.71058	GAG	CDH1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000039068		0.493	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	107	0.00	0	G	NM_004360		68844139	68844139	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	missense	51	29.17	21	SNP	0.999	A
DCDC2B	149069	genome.wustl.edu	37	1	32678163	32678163	+	Silent	SNP	C	C	T			TCGA-A1-A0SE-01A-11D-A099-09	TCGA-A1-A0SE-10A-03D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0539776c-3943-41d0-972c-8dc833a603e5	880b9d9f-40bf-4a8a-bfb6-378842c4fb97	g.chr1:32678163C>T	ENST00000409358.1	+	5	600	c.600C>T	c.(598-600)gtC>gtT	p.V200V		NM_001099434.1	NP_001092904.1	A2VCK2	DCD2B_HUMAN	doublecortin domain containing 2B	200	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				intracellular signal transduction (GO:0035556)			p.V200V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				ATGTGGCTGTCGGAGAGGATG	0.597																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											75.0	80.0	79.0					1																	32678163		1985	4160	6145	-	-	-	SO:0001819	synonymous_variant	0			BC128073	CCDS44100.1	1p35.1	2008-05-13			ENSG00000222046	ENSG00000222046			32576	protein-coding gene	gene with protein product							Standard	NM_001099434		Approved		uc001bun.2	A2VCK2	OTTHUMG00000005741	ENST00000409358.1:c.600C>T	1.37:g.32678163C>T			B7ZBC6	Silent	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.V200	ENST00000409358.1	37	c.600	CCDS44100.1	1																																																																																			DCDC2B	-	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	ENSG00000222046		0.597	DCDC2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCDC2B	HGNC	protein_coding	OTTHUMT00000328293.1	113	0.00	0	C	XM_940631		32678163	32678163	+1	no_errors	ENST00000409358	ensembl	human	known	69_37n	silent	92	19.30	22	SNP	0.498	T
FAM102A	399665	genome.wustl.edu	37	9	130712790	130712791	+	Missense_Mutation	DNP	TC	TC	AA			TCGA-A1-A0SE-01A-11D-A099-09	TCGA-A1-A0SE-10A-03D-A099-09	T|C	T|C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0539776c-3943-41d0-972c-8dc833a603e5	880b9d9f-40bf-4a8a-bfb6-378842c4fb97	g.chr9:130712790_130712791TC>AA	ENST00000373095.1	-	4	700_701	c.325_326GA>TT	c.(325-327)GAg>TTg	p.E109L	FAM102A_ENST00000300434.3_5'UTR|FAM102A_ENST00000373084.4_5'UTR	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	109										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						GCCCGCAAACTCGGCCAGGTTC	0.624																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0				CCDS6888.1, CCDS35150.1	9q34.11	2012-11-05	2005-11-17	2005-11-17	ENSG00000167106	ENSG00000167106			31419	protein-coding gene	gene with protein product	"""sym-3 homolog A (C. elegans)"""	610891	"""chromosome 9 open reading frame 132"""	C9orf132			Standard	NM_001035254		Approved	Eeig1, bA203J24.7, SYM-3A	uc004bsx.2	Q5T9C2	OTTHUMG00000020720	ENST00000373095.1:c.325_326delinsAA	9.37:g.130712790_130712791delinsAA	ENSP00000362187:p.Glu109Leu		A2A329|Q8TEL4	Missense_Mutation|Nonsense_Mutation	SNP	pfam_NT-C2	p.E109V|p.E109*	ENST00000373095.1	37	c.326|c.325	CCDS35150.1	9																																																																																			FAM102A	-	pfam_NT-C2	ENSG00000167106		0.624	FAM102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM102A	HGNC	protein_coding	OTTHUMT00000054298.2	49|50	0.00	0	T|C			130712790|130712791	130712790|130712791	-1	no_errors	ENST00000373095	ensembl	human	known	69_37n	missense|nonsense	51|50	18.75|19.35	12	SNP	1.000|0.993	A
FHL1	2273	genome.wustl.edu	37	X	135290662	135290662	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SE-01A-11D-A099-09	TCGA-A1-A0SE-10A-03D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0539776c-3943-41d0-972c-8dc833a603e5	880b9d9f-40bf-4a8a-bfb6-378842c4fb97	g.chrX:135290662G>A	ENST00000345434.3	+	5	631	c.550G>A	c.(550-552)Gat>Aat	p.D184N	FHL1_ENST00000543669.1_Missense_Mutation_p.D184N|FHL1_ENST00000370690.3_Missense_Mutation_p.D184N|FHL1_ENST00000535737.1_Missense_Mutation_p.D184N|FHL1_ENST00000370683.1_Missense_Mutation_p.D200N|FHL1_ENST00000370676.3_Intron|FHL1_ENST00000394153.2_Missense_Mutation_p.D184N|FHL1_ENST00000394155.2_Missense_Mutation_p.D184N|FHL1_ENST00000539015.1_Missense_Mutation_p.D213N			Q13642	FHL1_HUMAN	four and a half LIM domains 1	184	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				cell differentiation (GO:0030154)|muscle organ development (GO:0007517)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)|organ morphogenesis (GO:0009887)|positive regulation of potassium ion transport (GO:0043268)|regulation of membrane depolarization (GO:0003254)|regulation of potassium ion transmembrane transporter activity (GO:1901016)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ion channel binding (GO:0044325)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					CTGGCATGCCGATTGCTTTGT	0.498																																						dbGAP											0													251.0	206.0	221.0					X																	135290662		2203	4300	6503	-	-	-	SO:0001583	missense	0			U60115	CCDS14655.1, CCDS55505.1, CCDS55506.1, CCDS55507.1, CCDS76036.1	Xq26.3	2014-09-17			ENSG00000022267	ENSG00000022267			3702	protein-coding gene	gene with protein product	"""Four-and-a-half LIM domains 1"", ""LIM protein SLIMMER"""	300163				8753811, 9714789	Standard	NM_001449		Approved	SLIM1, KYO-T, bA535K18.1, FHL1B, XMPMA, FLH1A, MGC111107	uc004ezo.3	Q13642	OTTHUMG00000022504	ENST00000345434.3:c.550G>A	X.37:g.135290662G>A	ENSP00000071281:p.Asp184Asn		B7Z5T4|B7Z793|O95212|Q13230|Q13645|Q5JXI7|Q5M7Y6|Q6IB30|Q9NZ40|Q9UKZ8|Q9Y630	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.D184N	ENST00000345434.3	37	c.550	CCDS55507.1	X	.	.	.	.	.	.	.	.	.	.	g	15.69	2.908622	0.52439	.	.	ENSG00000022267	ENST00000394155;ENST00000370690;ENST00000536581;ENST00000420362;ENST00000535737;ENST00000452016;ENST00000434885;ENST00000543669;ENST00000394153;ENST00000456445;ENST00000456218;ENST00000345434;ENST00000539015;ENST00000370683;ENST00000542704;ENST00000370674	D;D;D;D;D;D;D;D;D;D;D;D;D	0.87179	-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22;-2.22	4.65	4.65	0.58169	Zinc finger, LIM-type (5);	0.277643	0.39687	N	0.001296	D	0.83243	0.5212	N	0.17312	0.475	0.42169	D	0.991634	P;P;P	0.51147	0.83;0.657;0.942	B;B;P	0.48571	0.217;0.2;0.582	D	0.87026	0.2132	10	0.87932	D	0	.	16.901	0.86113	0.0:0.0:1.0:0.0	.	213;200;184	B7Z793;B7Z5T4;Q13642	.;.;FHL1_HUMAN	N	184;184;164;184;184;184;184;184;184;184;224;184;213;200;179;184	ENSP00000377710:D184N;ENSP00000359724:D184N;ENSP00000391779:D184N;ENSP00000444815:D184N;ENSP00000408038:D184N;ENSP00000413798:D184N;ENSP00000443333:D184N;ENSP00000377709:D184N;ENSP00000412642:D184N;ENSP00000071281:D184N;ENSP00000437673:D213N;ENSP00000359717:D200N;ENSP00000359708:D184N	ENSP00000071281:D184N	D	+	1	0	FHL1	135118328	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.964000	0.87933	1.906000	0.55180	0.431000	0.28591	GAT	FHL1	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000022267		0.498	FHL1-002	KNOWN	basic|CCDS	protein_coding	FHL1	HGNC	protein_coding	OTTHUMT00000058461.1	104	0.00	0	G	NM_001449		135290662	135290662	+1	no_errors	ENST00000345434	ensembl	human	known	69_37n	missense	60	16.67	12	SNP	1.000	A
QRICH1	54870	genome.wustl.edu	37	3	49066745	49066745	+	IGR	SNP	C	C	T			TCGA-A1-A0SE-01A-11D-A099-09	TCGA-A1-A0SE-10A-03D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0539776c-3943-41d0-972c-8dc833a603e5	880b9d9f-40bf-4a8a-bfb6-378842c4fb97	g.chr3:49066745C>T	ENST00000395443.2	-	0	3549				RP13-131K19.6_ENST00000607245.1_RNA|IMPDH2_ENST00000326739.4_Silent_p.V13V	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1							nucleus (GO:0005634)		p.V13V(1)		breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CGTCGTCTGGCACGTAGGACG	0.657																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											46.0	37.0	40.0					3																	49066745		2202	4300	6502	-	-	-	SO:0001628	intergenic_variant	0				CCDS2787.1	3p21.31	2011-06-03			ENSG00000198218	ENSG00000198218			24713	protein-coding gene	gene with protein product						12477932	Standard	NM_017730		Approved	FLJ20259	uc003cvv.3	Q2TAL8	OTTHUMG00000156772		3.37:g.49066745C>T			Q4G0F7|Q7L621|Q8TEA5	Silent	SNP	pfam_IMP_DH_GMPRt,pfam_Cysta_beta_synth_core,pfam_2Npropane_dOase,pfam_FMN-dep_DH,pfam_NanE,smart_Cysta_beta_synth_core,pirsf_IMP_DH-rel,tigrfam_IMP_DH	p.V13	ENST00000395443.2	37	c.39	CCDS2787.1	3																																																																																			IMPDH2	-	NULL	ENSG00000178035		0.657	QRICH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPDH2	HGNC	protein_coding	OTTHUMT00000345669.1	41	0.00	0	C	NM_017730		49066745	49066745	-1	no_errors	ENST00000326739	ensembl	human	known	69_37n	silent	44	21.43	12	SNP	0.995	T
KLHL20	27252	genome.wustl.edu	37	1	173725095	173725095	+	Silent	SNP	A	A	G			TCGA-A1-A0SE-01A-11D-A099-09	TCGA-A1-A0SE-10A-03D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0539776c-3943-41d0-972c-8dc833a603e5	880b9d9f-40bf-4a8a-bfb6-378842c4fb97	g.chr1:173725095A>G	ENST00000209884.4	+	6	1021	c.885A>G	c.(883-885)ctA>ctG	p.L295L	KLHL20_ENST00000546011.1_Silent_p.L106L	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	295					cytoskeleton organization (GO:0007010)|Golgi to endosome transport (GO:0006895)|negative regulation of apoptotic process (GO:0043066)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K33-linked ubiquitination (GO:1990390)|protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|response to interferon-alpha (GO:0035455)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|PML body (GO:0016605)|trans-Golgi network (GO:0005802)	interferon-gamma binding (GO:0019964)|ubiquitin-protein transferase activity (GO:0004842)	p.L295L(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						ACTACCTCCTATTGCCGCAAG	0.403																																					GBM(159;862 2695 6559 23041)	dbGAP											1	Substitution - coding silent(1)	breast(1)											103.0	95.0	98.0					1																	173725095		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB026190	CCDS1310.1	1q25.1	2013-01-30	2013-01-30		ENSG00000076321	ENSG00000076321		"""Kelch-like"", ""BTB/POZ domain containing"""	25056	protein-coding gene	gene with protein product			"""kelch-like 20 (Drosophila)"""			14668487, 20389280	Standard	NM_014458		Approved	KLEIP, KHLHX	uc001gjc.3	Q9Y2M5	OTTHUMG00000040548	ENST00000209884.4:c.885A>G	1.37:g.173725095A>G			B3KMA0|B4DUR0|Q5TZF2|Q5ZF45|Q9H457	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L295	ENST00000209884.4	37	c.885	CCDS1310.1	1																																																																																			KLHL20	-	pirsf_Kelch-like_gigaxonin	ENSG00000076321		0.403	KLHL20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL20	HGNC	protein_coding	OTTHUMT00000097582.1	182	0.00	0	A	NM_014458		173725095	173725095	+1	no_errors	ENST00000209884	ensembl	human	known	69_37n	silent	165	20.19	42	SNP	0.162	G
KRTAP9-1	728318	genome.wustl.edu	37	17	39346594	39346594	+	Silent	SNP	C	C	T	rs377187211|rs148036927		TCGA-A1-A0SE-01A-11D-A099-09	TCGA-A1-A0SE-10A-03D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0539776c-3943-41d0-972c-8dc833a603e5	880b9d9f-40bf-4a8a-bfb6-378842c4fb97	g.chr17:39346594C>T	ENST00000398470.1	+	1	456	c.456C>T	c.(454-456)acC>acT	p.T152T	KRTAP9-1_ENST00000318329.5_Silent_p.T69T|KRTAP9-1_ENST00000377723.3_Intron	NM_001190460.1	NP_001177389.1	A8MXZ3	KRA91_HUMAN	keratin associated protein 9-1	152	30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI].					keratin filament (GO:0045095)		p.T152_C153>S(2)		breast(1)|lung(3)	4						GCCAGCCCACCTGCTGTGGGT	0.582																																						dbGAP											2	Complex - deletion inframe(2)	breast(2)																																								-	-	-	SO:0001819	synonymous_variant	0			AC006070	CCDS56029.1	17q21.2	2010-06-03			ENSG00000240542	ENSG00000240542		"""Keratin associated proteins"""	18912	protein-coding gene	gene with protein product			"""keratin associated protein 9-like 3"""	KRTAP9L3			Standard	NM_001190460		Approved	KAP9.1	uc021txf.1	A8MXZ3	OTTHUMG00000133636	ENST00000398470.1:c.456C>T	17.37:g.39346594C>T				Silent	SNP	NULL	p.T152	ENST00000398470.1	37	c.456	CCDS56029.1	17																																																																																			KRTAP9-1	-	NULL	ENSG00000240542		0.582	KRTAP9-1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KRTAP9-1	HGNC	protein_coding	OTTHUMT00000257781.1	18	0.00	0	C			39346594	39346594	+1	no_errors	ENST00000398470	ensembl	human	known	69_37n	silent	18	21.74	5	SNP	0.010	T
LRIG1	26018	genome.wustl.edu	37	3	66463429	66463429	+	Silent	SNP	A	A	G			TCGA-A1-A0SE-01A-11D-A099-09	TCGA-A1-A0SE-10A-03D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0539776c-3943-41d0-972c-8dc833a603e5	880b9d9f-40bf-4a8a-bfb6-378842c4fb97	g.chr3:66463429A>G	ENST00000273261.3	-	6	1181	c.657T>C	c.(655-657)aaT>aaC	p.N219N	LRIG1_ENST00000383703.3_Silent_p.N219N	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	219					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)		p.N219N(1)		NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TCCTGTTCCGATTGAGGTCCC	0.517																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											104.0	87.0	93.0					3																	66463429		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.657T>C	3.37:g.66463429A>G			Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Silent	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.N219	ENST00000273261.3	37	c.657	CCDS33783.1	3																																																																																			LRIG1	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000144749		0.517	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG1	HGNC	protein_coding	OTTHUMT00000351930.1	83	0.00	0	A	NM_015541		66463429	66463429	-1	no_errors	ENST00000273261	ensembl	human	known	69_37n	silent	84	22.94	25	SNP	1.000	G
MED23	9439	genome.wustl.edu	37	6	131948806	131948806	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A1-A0SE-01A-11D-A099-09	TCGA-A1-A0SE-10A-03D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0539776c-3943-41d0-972c-8dc833a603e5	880b9d9f-40bf-4a8a-bfb6-378842c4fb97	g.chr6:131948806C>A	ENST00000368068.3	-	2	225	c.46G>T	c.(46-48)Gaa>Taa	p.E16*	MED23_ENST00000403834.3_Nonsense_Mutation_p.E16*|ENPP3_ENST00000414305.1_5'Flank|MED23_ENST00000368058.1_Nonsense_Mutation_p.E16*|MED23_ENST00000368053.4_Nonsense_Mutation_p.E16*|MED23_ENST00000539158.1_Nonsense_Mutation_p.E16*|MED23_ENST00000368060.3_Nonsense_Mutation_p.E16*|MED23_ENST00000540546.1_Nonsense_Mutation_p.E16*|MED23_ENST00000354577.4_Nonsense_Mutation_p.E16*	NM_004830.3	NP_004821.2	Q9ULK4	MED23_HUMAN	mediator complex subunit 23	16					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	transcription coactivator activity (GO:0003713)	p.E16*(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TCTATAACTTCCGTTTTCTGT	0.358																																						dbGAP											2	Substitution - Nonsense(2)	breast(2)											77.0	86.0	83.0					6																	131948806		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF104255	CCDS5146.1, CCDS5147.1, CCDS59039.1	6q22.33-q24.1	2008-02-05	2007-08-08	2007-07-30	ENSG00000112282	ENSG00000112282			2372	protein-coding gene	gene with protein product		605042	"""cofactor required for Sp1 transcriptional activation, subunit 3, 130kDa"""	CRSP3		9989412	Standard	NM_004830		Approved	CRSP130, DRIP130, Sur2	uc003qcs.2	Q9ULK4	OTTHUMG00000015565	ENST00000368068.3:c.46G>T	6.37:g.131948806C>A	ENSP00000357047:p.Glu16*		B9TX55|O95403|Q5JWT3|Q5JWT4|Q6P9H6|Q9H0J2|Q9NTT9|Q9NTU0|Q9Y5P7|Q9Y667	Nonsense_Mutation	SNP	pfam_Mediator_Med23	p.E16*	ENST00000368068.3	37	c.46	CCDS5147.1	6	.	.	.	.	.	.	.	.	.	.	C	35	5.487961	0.96323	.	.	ENSG00000112282	ENST00000354577;ENST00000368068;ENST00000403834;ENST00000368060;ENST00000368058;ENST00000368053;ENST00000540546;ENST00000536048;ENST00000539158;ENST00000538007	.	.	.	5.77	4.9	0.64082	.	0.141433	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-8.9132	14.9125	0.70770	0.0:0.931:0.0:0.069	.	.	.	.	X	16	.	ENSP00000346588:E16X	E	-	1	0	MED23	131990499	1.000000	0.71417	0.972000	0.41901	0.477000	0.33069	7.389000	0.79806	1.435000	0.47434	0.591000	0.81541	GAA	MED23	-	pfam_Mediator_Med23	ENSG00000112282		0.358	MED23-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED23	HGNC	protein_coding	OTTHUMT00000042215.1	233	0.00	0	C			131948806	131948806	-1	no_errors	ENST00000368058	ensembl	human	known	69_37n	nonsense	91	31.34	42	SNP	1.000	A
MGA	23269	genome.wustl.edu	37	15	42054350	42054350	+	Missense_Mutation	SNP	A	A	G			TCGA-A1-A0SE-01A-11D-A099-09	TCGA-A1-A0SE-10A-03D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0539776c-3943-41d0-972c-8dc833a603e5	880b9d9f-40bf-4a8a-bfb6-378842c4fb97	g.chr15:42054350A>G	ENST00000570161.1	+	21	7534	c.7534A>G	c.(7534-7536)Aag>Gag	p.K2512E	MGA_ENST00000545763.1_Missense_Mutation_p.K2303E|MGA_ENST00000219905.7_Missense_Mutation_p.K2512E|MGA_ENST00000566586.1_Missense_Mutation_p.K2303E|MGA_ENST00000389936.4_Missense_Mutation_p.K2473E			O43451	MGA_HUMAN	MGA, MAX dimerization protein	0					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)	p.K2561E(1)		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)	AGTGGTCCTGAAGAAGCTAGA	0.368																																						dbGAP											1	Substitution - Missense(1)	breast(1)											46.0	44.0	45.0					15																	42054350		1891	4117	6008	-	-	-	SO:0001583	missense	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.7534A>G	15.37:g.42054350A>G	ENSP00000457035:p.Lys2512Glu		Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_TF_T-box,pfam_HLH_DNA-bd,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_DNA-bd,smart_TF_T-box,smart_HLH_DNA-bd,prints_TF_T-box,pfscan_HLH_DNA-bd,pfscan_TF_T-box	p.K2512E	ENST00000570161.1	37	c.7534	CCDS55959.1	15	.	.	.	.	.	.	.	.	.	.	A	24.7	4.556485	0.86231	.	.	ENSG00000174197	ENST00000219905;ENST00000389936;ENST00000545763	D;D;D	0.89415	-2.48;-2.48;-2.51	6.16	6.16	0.99307	.	0.000000	0.64402	D	0.000008	D	0.90810	0.7114	N	0.24115	0.695	0.31211	N	0.698603	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.994;0.997;0.995	D	0.90695	0.4616	10	0.87932	D	0	.	16.8061	0.85666	1.0:0.0:0.0:0.0	.	1128;2303;2512	B4DVS1;F5H7K2;E7ENI0	.;.;.	E	2512;2473;2303	ENSP00000219905:K2512E;ENSP00000374586:K2473E;ENSP00000442467:K2303E	ENSP00000219905:K2512E	K	+	1	0	MGA	39841642	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.778000	0.75043	2.367000	0.80283	0.528000	0.53228	AAG	MGA	-	NULL	ENSG00000174197		0.368	MGA-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGA	HGNC	protein_coding	OTTHUMT00000420229.1	68	0.00	0	A	NM_001164273.1		42054350	42054350	+1	no_errors	ENST00000219905	ensembl	human	known	69_37n	missense	32	34.69	17	SNP	1.000	G
MRPS18B	28973	genome.wustl.edu	37	6	30587563	30587563	+	Missense_Mutation	SNP	C	C	T			TCGA-A1-A0SE-01A-11D-A099-09	TCGA-A1-A0SE-10A-03D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0539776c-3943-41d0-972c-8dc833a603e5	880b9d9f-40bf-4a8a-bfb6-378842c4fb97	g.chr6:30587563C>T	ENST00000259873.4	+	3	422	c.265C>T	c.(265-267)Cgg>Tgg	p.R89W	PPP1R10_ENST00000484449.1_5'Flank|MRPS18B_ENST00000506373.2_Missense_Mutation_p.R89W|PPP1R10_ENST00000376511.2_5'Flank|MRPS18B_ENST00000472229.1_3'UTR	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B	89					translation (GO:0006412)	cell junction (GO:0030054)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						ACCCCCACAGCGGACTCGGAA	0.517																																						dbGAP											0													86.0	98.0	94.0					6																	30587563		1511	2709	4220	-	-	-	SO:0001583	missense	0			AF100761	CCDS4682.1	6p21	2012-09-13			ENSG00000204568	ENSG00000204568		"""Mitochondrial ribosomal proteins / small subunits"""	14516	protein-coding gene	gene with protein product		611982				11279123	Standard	NM_014046		Approved	MRPS18-2, PTD017, C6orf14, HSPC183	uc003nqo.2	Q9Y676	OTTHUMG00000031268	ENST00000259873.4:c.265C>T	6.37:g.30587563C>T	ENSP00000259873:p.Arg89Trp		A6NDQ0|Q659G4|Q9BS27	Missense_Mutation	SNP	pfam_Ribosomal_S18,superfamily_Ribosomal_S18	p.R89W	ENST00000259873.4	37	c.265	CCDS4682.1	6	.	.	.	.	.	.	.	.	.	.	C	18.67	3.674727	0.67928	.	.	ENSG00000204568	ENST00000259873;ENST00000506373;ENST00000376508	T	0.50277	0.75	5.4	1.43	0.22495	.	0.404059	0.25503	N	0.030222	T	0.48537	0.1505	M	0.72894	2.215	0.41732	D	0.989565	B;D;D	0.76494	0.066;0.999;0.999	B;D;P	0.64687	0.017;0.928;0.849	T	0.51655	-0.8678	10	0.87932	D	0	.	7.4656	0.27320	0.5735:0.3464:0.0:0.0801	.	89;89;89	B4DFG6;Q5STN0;Q9Y676	.;.;RT18B_HUMAN	W	89	ENSP00000259873:R89W	ENSP00000259873:R89W	R	+	1	2	MRPS18B	30695542	0.997000	0.39634	0.897000	0.35233	0.674000	0.39518	0.939000	0.28978	0.065000	0.16485	0.563000	0.77884	CGG	MRPS18B	-	NULL	ENSG00000204568		0.517	MRPS18B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS18B	HGNC	protein_coding	OTTHUMT00000076584.2	82	0.00	0	C			30587563	30587563	+1	no_errors	ENST00000259873	ensembl	human	known	69_37n	missense	34	32.00	16	SNP	0.642	T
MUC16	94025	genome.wustl.edu	37	19	9087224	9087224	+	Missense_Mutation	SNP	C	C	T			TCGA-A1-A0SE-01A-11D-A099-09	TCGA-A1-A0SE-10A-03D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0539776c-3943-41d0-972c-8dc833a603e5	880b9d9f-40bf-4a8a-bfb6-378842c4fb97	g.chr19:9087224C>T	ENST00000397910.4	-	1	4794	c.4591G>A	c.(4591-4593)Gac>Aac	p.D1531N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1531	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.D1531N(2)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GTTGTTAAGTCCCCAGTTCTG	0.473																																						dbGAP											2	Substitution - Missense(2)	breast(2)											325.0	303.0	310.0					19																	9087224		2030	4189	6219	-	-	-	SO:0001583	missense	0			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.4591G>A	19.37:g.9087224C>T	ENSP00000381008:p.Asp1531Asn		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.D1531N	ENST00000397910.4	37	c.4591	CCDS54212.1	19	.	.	.	.	.	.	.	.	.	.	c	3.296	-0.143931	0.06627	.	.	ENSG00000181143	ENST00000397910	T	0.02944	4.1	0.821	-0.387	0.12463	.	.	.	.	.	T	0.01489	0.0048	N	0.08118	0	.	.	.	B	0.30686	0.29	B	0.26517	0.07	T	0.44544	-0.9321	8	0.87932	D	0	.	3.2976	0.06971	0.0:0.6765:0.0:0.3235	.	1531	B5ME49	.	N	1531	ENSP00000381008:D1531N	ENSP00000381008:D1531N	D	-	1	0	MUC16	8948224	0.002000	0.14202	0.024000	0.17045	0.046000	0.14306	-0.031000	0.12287	-0.094000	0.12374	0.313000	0.20887	GAC	MUC16	-	NULL	ENSG00000181143		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC16	HGNC	protein_coding	OTTHUMT00000402806.1	269	0.00	0	C	NM_024690		9087224	9087224	-1	no_errors	ENST00000397910	ensembl	human	known	69_37n	missense	200	22.18	57	SNP	0.039	T
PTCH1	5727	genome.wustl.edu	37	9	98220334	98220334	+	Silent	SNP	G	G	A			TCGA-A1-A0SE-01A-11D-A099-09	TCGA-A1-A0SE-10A-03D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0539776c-3943-41d0-972c-8dc833a603e5	880b9d9f-40bf-4a8a-bfb6-378842c4fb97	g.chr9:98220334G>A	ENST00000331920.6	-	18	3428	c.3129C>T	c.(3127-3129)tgC>tgT	p.C1043C	PTCH1_ENST00000421141.1_Silent_p.C892C|PTCH1_ENST00000437951.1_Silent_p.C977C|PTCH1_ENST00000429896.2_Silent_p.C892C|PTCH1_ENST00000375274.2_Silent_p.C1042C|PTCH1_ENST00000430669.2_Silent_p.C977C|PTCH1_ENST00000418258.1_Silent_p.C892C	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	1043					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.C1043C(2)|p.C1042C(2)|p.C1043_A1044insVC(1)|p.I963fs*2(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GGAAGACAGCGCACACGAGGA	0.547																																						dbGAP											6	Substitution - coding silent(4)|Insertion - In frame(1)|Deletion - Frameshift(1)	breast(4)|bone(1)|central_nervous_system(1)											77.0	73.0	74.0					9																	98220334		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.3129C>T	9.37:g.98220334G>A			A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Silent	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.C1043	ENST00000331920.6	37	c.3129	CCDS6714.1	9																																																																																			PTCH1	-	pfam_Patched,tigrfam_TM_rcpt_patched	ENSG00000185920		0.547	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCH1	HGNC	protein_coding	OTTHUMT00000053229.2	81	0.00	0	G	NM_000264		98220334	98220334	-1	no_errors	ENST00000331920	ensembl	human	known	69_37n	silent	79	13.04	12	SNP	0.829	A
SDR16C5	195814	genome.wustl.edu	37	8	57228816	57228816	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SE-01A-11D-A099-09	TCGA-A1-A0SE-10A-03D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0539776c-3943-41d0-972c-8dc833a603e5	880b9d9f-40bf-4a8a-bfb6-378842c4fb97	g.chr8:57228816G>A	ENST00000303749.3	-	2	728	c.91C>T	c.(91-93)Ctc>Ttc	p.L31F	SDR16C5_ENST00000396721.2_Missense_Mutation_p.L31F|SDR16C5_ENST00000522671.1_Missense_Mutation_p.L31F	NM_138969.2	NP_620419.2	Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	31					detection of light stimulus involved in visual perception (GO:0050908)|keratinocyte proliferation (GO:0043616)|retinal metabolic process (GO:0042574)|retinol metabolic process (GO:0042572)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	retinol dehydrogenase activity (GO:0004745)	p.L31F(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						GGCTTTGGGAGTAAGGCAAAA	0.468																																						dbGAP											1	Substitution - Missense(1)	breast(1)											86.0	78.0	81.0					8																	57228816		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6167.1	8q12.1	2011-09-20			ENSG00000170786	ENSG00000170786	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	30311	protein-coding gene	gene with protein product		608989				12372410	Standard	NM_138969		Approved	RDHE2, RDH-E2	uc003xsy.1	Q8N3Y7	OTTHUMG00000164311	ENST00000303749.3:c.91C>T	8.37:g.57228816G>A	ENSP00000307607:p.Leu31Phe		B4DGK2|Q330K3|Q8TDV9|Q96LX1	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.L31F	ENST00000303749.3	37	c.91	CCDS6167.1	8	.	.	.	.	.	.	.	.	.	.	G	9.542	1.113547	0.20795	.	.	ENSG00000170786	ENST00000396721;ENST00000303749;ENST00000522671;ENST00000538514	T;D;D	0.83250	-1.39;-1.68;-1.7	5.25	-2.07	0.07276	.	0.436855	0.26598	N	0.023484	T	0.63153	0.2487	L	0.29908	0.895	0.09310	N	1	B;B;B	0.15473	0.001;0.013;0.001	B;B;B	0.13407	0.006;0.009;0.004	T	0.44967	-0.9293	10	0.11485	T	0.65	.	3.314	0.07026	0.1039:0.1122:0.304:0.48	.	31;31;31	Q8N3Y7-2;G3V145;Q8N3Y7	.;.;RDHE2_HUMAN	F	31	ENSP00000379947:L31F;ENSP00000307607:L31F;ENSP00000431010:L31F	ENSP00000307607:L31F	L	-	1	0	SDR16C5	57391370	0.029000	0.19370	0.001000	0.08648	0.004000	0.04260	0.055000	0.14229	-0.268000	0.09312	-0.311000	0.09066	CTC	SDR16C5	-	NULL	ENSG00000170786		0.468	SDR16C5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDR16C5	HGNC	protein_coding	OTTHUMT00000378235.1	78	0.00	0	G	NM_138969		57228816	57228816	-1	no_errors	ENST00000303749	ensembl	human	known	69_37n	missense	58	35.87	33	SNP	0.001	A
SYDE2	84144	genome.wustl.edu	37	1	85656315	85656315	+	Missense_Mutation	SNP	T	T	C			TCGA-A1-A0SE-01A-11D-A099-09	TCGA-A1-A0SE-10A-03D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0539776c-3943-41d0-972c-8dc833a603e5	880b9d9f-40bf-4a8a-bfb6-378842c4fb97	g.chr1:85656315T>C	ENST00000341460.5	-	2	915	c.866A>G	c.(865-867)aAt>aGt	p.N289S		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	289					activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.N289S(1)|p.N211S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		ATATAGCCAATTGCGTTTCTT	0.393																																						dbGAP											2	Substitution - Missense(2)	breast(2)											158.0	147.0	151.0					1																	85656315		1845	4114	5959	-	-	-	SO:0001583	missense	0			AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.866A>G	1.37:g.85656315T>C	ENSP00000340594:p.Asn289Ser		Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.N289S	ENST00000341460.5	37	c.866	CCDS44169.1	1	.	.	.	.	.	.	.	.	.	.	T	15.44	2.833972	0.50951	.	.	ENSG00000097096	ENST00000341460	T	0.10668	2.85	6.17	6.17	0.99709	.	0.047074	0.85682	D	0.000000	T	0.06462	0.0166	M	0.62723	1.935	0.35906	D	0.830761	B;P	0.42827	0.433;0.791	B;B	0.38327	0.085;0.271	T	0.12293	-1.0553	10	0.52906	T	0.07	.	9.7203	0.40300	0.0:0.1325:0.0:0.8675	.	289;289	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	S	289	ENSP00000340594:N289S	ENSP00000340594:N289S	N	-	2	0	SYDE2	85428903	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	3.690000	0.54713	2.371000	0.80710	0.533000	0.62120	AAT	SYDE2	-	NULL	ENSG00000097096		0.393	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SYDE2	HGNC	protein_coding	OTTHUMT00000127989.2	155	0.00	0	T			85656315	85656315	-1	no_errors	ENST00000341460	ensembl	human	known	69_37n	missense	72	15.29	13	SNP	0.999	C
TBC1D12	23232	genome.wustl.edu	37	10	96291053	96291053	+	Missense_Mutation	SNP	A	A	T			TCGA-A1-A0SE-01A-11D-A099-09	TCGA-A1-A0SE-10A-03D-A099-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0539776c-3943-41d0-972c-8dc833a603e5	880b9d9f-40bf-4a8a-bfb6-378842c4fb97	g.chr10:96291053A>T	ENST00000225235.4	+	12	2205	c.2095A>T	c.(2095-2097)Act>Tct	p.T699S	TBC1D12_ENST00000485048.1_3'UTR	NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	699							Rab GTPase activator activity (GO:0005097)	p.T699S(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				TTTATTTAGGACTGGATTAGG	0.373																																						dbGAP											1	Substitution - Missense(1)	breast(1)											147.0	137.0	140.0					10																	96291053		1820	4090	5910	-	-	-	SO:0001583	missense	0			AB011180	CCDS41553.1	10q23.33	2013-09-20			ENSG00000108239	ENSG00000108239			29082	protein-coding gene	gene with protein product						9628581	Standard	NM_015188		Approved	KIAA0608	uc001kjr.2	O60347	OTTHUMG00000018794	ENST00000225235.4:c.2095A>T	10.37:g.96291053A>T	ENSP00000225235:p.Thr699Ser		Q5VYA6|Q8WX26|Q8WX59|Q9UG83	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.T699S	ENST00000225235.4	37	c.2095	CCDS41553.1	10	.	.	.	.	.	.	.	.	.	.	A	27.5	4.840651	0.91197	.	.	ENSG00000108239	ENST00000225235	T	0.22743	1.94	5.31	5.31	0.75309	Rab-GAP/TBC domain (3);	0.000000	0.85682	D	0.000000	T	0.44350	0.1289	M	0.75777	2.31	0.58432	D	0.999997	D	0.55172	0.97	D	0.64410	0.925	T	0.38950	-0.9637	10	0.56958	D	0.05	-14.2221	13.2709	0.60159	1.0:0.0:0.0:0.0	.	699	O60347	TBC12_HUMAN	S	699	ENSP00000225235:T699S	ENSP00000225235:T699S	T	+	1	0	TBC1D12	96281043	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.328000	0.79160	2.234000	0.73211	0.528000	0.53228	ACT	TBC1D12	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom	ENSG00000108239		0.373	TBC1D12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D12	HGNC	protein_coding	OTTHUMT00000049482.2	162	0.61	1	A			96291053	96291053	+1	no_errors	ENST00000225235	ensembl	human	known	69_37n	missense	44	38.03	27	SNP	1.000	T
TBL1X	6907	genome.wustl.edu	37	X	9659623	9659623	+	Silent	SNP	T	T	C			TCGA-A1-A0SE-01A-11D-A099-09	TCGA-A1-A0SE-10A-03D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0539776c-3943-41d0-972c-8dc833a603e5	880b9d9f-40bf-4a8a-bfb6-378842c4fb97	g.chrX:9659623T>C	ENST00000217964.7	+	8	1261	c.621T>C	c.(619-621)aaT>aaC	p.N207N	TBL1X_ENST00000424279.1_Silent_p.N156N|TBL1X_ENST00000380961.1_Silent_p.N156N|TBL1X_ENST00000536365.1_Silent_p.N156N|TBL1X_ENST00000407597.2_Silent_p.N207N	NM_005647.3	NP_005638.1	O60907	TBL1X_HUMAN	transducin (beta)-like 1X-linked	207					canonical Wnt signaling pathway (GO:0060070)|cellular lipid metabolic process (GO:0044255)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|histone binding (GO:0042393)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.N207N(2)		breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				TGACAGATAATCACGCGAAGC	0.433																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											125.0	100.0	108.0					X																	9659623		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y12781	CCDS14133.1, CCDS48078.1	Xp22.3	2013-01-10	2002-05-22	2002-05-24	ENSG00000101849	ENSG00000101849		"""WD repeat domain containing"""	11585	protein-coding gene	gene with protein product		300196	"""transducin (beta)-like 1"""	TBL1		10330347	Standard	NM_005647		Approved	EBI	uc004csr.3	O60907	OTTHUMG00000021117	ENST00000217964.7:c.621T>C	X.37:g.9659623T>C			A8K044|A8K4J7|Q86UY2	Silent	SNP	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.N207	ENST00000217964.7	37	c.621	CCDS14133.1	X																																																																																			TBL1X	-	NULL	ENSG00000101849		0.433	TBL1X-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	TBL1X	HGNC	protein_coding	OTTHUMT00000055709.1	160	0.00	0	T	NM_005647		9659623	9659623	+1	no_errors	ENST00000217964	ensembl	human	known	69_37n	silent	131	13.25	20	SNP	0.998	C
UNC13C	440279	genome.wustl.edu	37	15	54306424	54306426	+	In_Frame_Del	DEL	AAG	AAG	-	rs368589502		TCGA-A1-A0SE-01A-11D-A099-09	TCGA-A1-A0SE-10A-03D-A099-09	AAG	AAG					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0539776c-3943-41d0-972c-8dc833a603e5	880b9d9f-40bf-4a8a-bfb6-378842c4fb97	g.chr15:54306424_54306426delAAG	ENST00000260323.11	+	1	1324_1326	c.1324_1326delAAG	c.(1324-1326)aagdel	p.K443del	UNC13C_ENST00000545554.1_In_Frame_Del_p.K443del|UNC13C_ENST00000537900.1_In_Frame_Del_p.K443del	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	443					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)	p.K442delK(2)		breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GCCAAAAATCAAGAAGAACAATT	0.409																																						dbGAP											2	Deletion - In frame(2)	breast(2)																																								-	-	-	SO:0001651	inframe_deletion	0			AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.1324_1326delAAG	15.37:g.54306427_54306429delAAG	ENSP00000260323:p.Lys443del		Q0P613|Q8ND48|Q96NP3	In_Frame_Del	DEL	pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.K443in_frame_del	ENST00000260323.11	37	c.1324_1326	CCDS45264.1	15																																																																																			UNC13C	-	NULL	ENSG00000137766		0.409	UNC13C-001	KNOWN	basic|CCDS	protein_coding	UNC13C	HGNC	protein_coding	OTTHUMT00000419028.3	82	0.00	0	AAG	NM_173166		54306424	54306426	+1	no_errors	ENST00000260323	ensembl	human	known	69_37n	in_frame_del	52	14.75	9	DEL	0.975:1.000:0.998	-
WDR91	29062	genome.wustl.edu	37	7	134890705	134890705	+	Missense_Mutation	SNP	T	T	C			TCGA-A1-A0SE-01A-11D-A099-09	TCGA-A1-A0SE-10A-03D-A099-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0539776c-3943-41d0-972c-8dc833a603e5	880b9d9f-40bf-4a8a-bfb6-378842c4fb97	g.chr7:134890705T>C	ENST00000354475.4	-	5	731	c.700A>G	c.(700-702)Atg>Gtg	p.M234V	WDR91_ENST00000485942.1_5'UTR|WDR91_ENST00000344400.5_Missense_Mutation_p.M234V|WDR91_ENST00000423565.1_Missense_Mutation_p.M199V	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	234								p.M234V(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						AGGCGGTCCATGTTGGAGACA	0.537																																						dbGAP											1	Substitution - Missense(1)	breast(1)											266.0	231.0	243.0					7																	134890705		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF161534	CCDS34758.1	7q33	2013-01-09			ENSG00000105875	ENSG00000105875		"""WD repeat domain containing"""	24997	protein-coding gene	gene with protein product						11042152, 11230166	Standard	NM_014149		Approved	HSPC049	uc003vsp.2	A4D1P6	OTTHUMG00000155414	ENST00000354475.4:c.700A>G	7.37:g.134890705T>C	ENSP00000346466:p.Met234Val		A6NK54|C9JMI4|Q6FI65|Q6MZQ1|Q6P4I1|Q96AE5|Q96G63|Q9H062|Q9H9B6|Q9NVG7|Q9NZY6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.M234V	ENST00000354475.4	37	c.700	CCDS34758.1	7	.	.	.	.	.	.	.	.	.	.	T	20.6	4.019376	0.75275	.	.	ENSG00000105875	ENST00000344400;ENST00000354475;ENST00000423565	T;T;T	0.64260	1.46;-0.09;0.49	5.21	5.21	0.72293	.	0.108387	0.85682	D	0.000000	T	0.49490	0.1560	L	0.32530	0.975	0.80722	D	1	B	0.32507	0.373	B	0.23275	0.045	T	0.50608	-0.8808	10	0.40728	T	0.16	-9.5606	15.3892	0.74729	0.0:0.0:0.0:1.0	.	234	A4D1P6	WDR91_HUMAN	V	234;234;199	ENSP00000340877:M234V;ENSP00000346466:M234V;ENSP00000392555:M199V	ENSP00000340877:M234V	M	-	1	0	WDR91	134541245	1.000000	0.71417	0.997000	0.53966	0.969000	0.65631	7.632000	0.83247	2.080000	0.62538	0.533000	0.62120	ATG	WDR91	-	NULL	ENSG00000105875		0.537	WDR91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR91	HGNC	protein_coding	OTTHUMT00000340019.1	166	0.60	1	T	NM_014149		134890705	134890705	-1	no_errors	ENST00000354475	ensembl	human	known	69_37n	missense	104	24.64	34	SNP	1.000	C
WDR86	349136	genome.wustl.edu	37	7	151093204	151093204	+	Silent	SNP	C	C	T			TCGA-A1-A0SE-01A-11D-A099-09	TCGA-A1-A0SE-10A-03D-A099-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0539776c-3943-41d0-972c-8dc833a603e5	880b9d9f-40bf-4a8a-bfb6-378842c4fb97	g.chr7:151093204C>T	ENST00000334493.6	-	3	814	c.384G>A	c.(382-384)caG>caA	p.Q128Q	WDR86_ENST00000477459.1_5'UTR|WDR86_ENST00000463000.1_5'Flank|WDR86_ENST00000469830.2_Silent_p.Q128Q	NM_001284262.1|NM_198285.2	NP_001271191.1|NP_938026.2	Q86TI4	WDR86_HUMAN	WD repeat domain 86	128								p.Q128Q(2)		breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCGGGACATCTGCCCCTTGT	0.667																																						dbGAP											2	Substitution - coding silent(2)	breast(2)											27.0	31.0	30.0					7																	151093204		2184	4285	6469	-	-	-	SO:0001819	synonymous_variant	0			AK125347	CCDS5925.2, CCDS64805.1, CCDS64806.1, CCDS75680.1	7q36.1	2013-01-09			ENSG00000187260	ENSG00000187260		"""WD repeat domain containing"""	28020	protein-coding gene	gene with protein product						12477932	Standard	NM_198285		Approved		uc003wkb.2	Q86TI4	OTTHUMG00000150764	ENST00000334493.6:c.384G>A	7.37:g.151093204C>T			B4DJF1|C9JAJ5|C9JXE3|Q3KNT1|Q6ZUS8	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.Q128	ENST00000334493.6	37	c.384	CCDS5925.2	7																																																																																			WDR86	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000187260		0.667	WDR86-003	NOVEL	basic|appris_principal|CCDS	protein_coding	WDR86	HGNC	protein_coding	OTTHUMT00000319999.3	21	0.00	0	C	NM_198285		151093204	151093204	-1	no_errors	ENST00000469830	ensembl	human	putative	69_37n	silent	18	18.18	4	SNP	0.129	T
ZFHX4	79776	genome.wustl.edu	37	8	77620129	77620129	+	Missense_Mutation	SNP	G	G	T			TCGA-A1-A0SE-01A-11D-A099-09	TCGA-A1-A0SE-10A-03D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0539776c-3943-41d0-972c-8dc833a603e5	880b9d9f-40bf-4a8a-bfb6-378842c4fb97	g.chr8:77620129G>T	ENST00000521891.2	+	3	3387	c.2939G>T	c.(2938-2940)gGg>gTg	p.G980V	ZFHX4_ENST00000518282.1_Missense_Mutation_p.G954V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.G954V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.G954V|ZFHX4_ENST00000517683.1_Intron	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	954					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)	p.G980V(1)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATTAAAGAAGGGGGCAAAAGC	0.433										HNSCC(33;0.089)																												dbGAP											1	Substitution - Missense(1)	breast(1)											107.0	108.0	108.0					8																	77620129		2174	4278	6452	-	-	-	SO:0001583	missense	0				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.2939G>T	8.37:g.77620129G>T	ENSP00000430497:p.Gly980Val		G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.G980V	ENST00000521891.2	37	c.2939	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	G	14.56	2.572730	0.45798	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.56776	0.44;0.44;0.44;0.44	5.28	5.28	0.74379	.	0.000000	0.45361	U	0.000372	T	0.77638	0.4160	M	0.87547	2.89	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.998	T	0.81219	-0.1032	10	0.87932	D	0	.	19.1106	0.93315	0.0:0.0:1.0:0.0	.	954;954;980;954	Q86UP3;Q86UP3-4;G3V138;Q86UP3-3	ZFHX4_HUMAN;.;.;.	V	980;980;954;954;954	ENSP00000430497:G980V;ENSP00000399605:G954V;ENSP00000050961:G954V;ENSP00000430848:G954V	ENSP00000050961:G954V	G	+	2	0	ZFHX4	77782684	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.263000	0.95617	2.763000	0.94921	0.650000	0.86243	GGG	ZFHX4	-	NULL	ENSG00000091656		0.433	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	107	0.00	0	G	NM_024721		77620129	77620129	+1	no_errors	ENST00000521891	ensembl	human	known	69_37n	missense	51	25.00	17	SNP	1.000	T
ZNF541	84215	genome.wustl.edu	37	19	48044180	48044180	+	Missense_Mutation	SNP	G	G	A			TCGA-A1-A0SE-01A-11D-A099-09	TCGA-A1-A0SE-10A-03D-A099-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	0539776c-3943-41d0-972c-8dc833a603e5	880b9d9f-40bf-4a8a-bfb6-378842c4fb97	g.chr19:48044180G>A	ENST00000391901.3	-	4	2431	c.2432C>T	c.(2431-2433)cCg>cTg	p.P811L	ZNF541_ENST00000448976.1_Missense_Mutation_p.P811L|ZNF541_ENST00000314121.4_Missense_Mutation_p.P811L|ZNF541_ENST00000487275.1_5'UTR			Q9H0D2	ZN541_HUMAN	zinc finger protein 541	811					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(1)|lung(2)|prostate(1)|skin(1)	9						TTCCTTCACCGGATGGGGGAG	0.522																																						dbGAP											0													71.0	71.0	71.0					19																	48044180		692	1591	2283	-	-	-	SO:0001583	missense	0			AL136846	CCDS46133.1, CCDS46133.2	19q13.33	2013-01-08			ENSG00000118156	ENSG00000118156		"""Zinc fingers, C2H2-type"""	25294	protein-coding gene	gene with protein product						11230166	Standard	NM_001277075		Approved	DKFZp434I1930	uc002phg.5	Q9H0D2	OTTHUMG00000141262	ENST00000391901.3:c.2432C>T	19.37:g.48044180G>A	ENSP00000375770:p.Pro811Leu		Q8NDK8	Missense_Mutation	SNP	pfam_ELM2_dom,pfam_Znf_C2H2,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.P811L	ENST00000391901.3	37	c.2432		19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.41|13.41	2.229295|2.229295	0.39399|0.39399	.|.	.|.	ENSG00000118156|ENSG00000118156	ENST00000391901;ENST00000314121;ENST00000448976|ENST00000263351	T;T;T|.	0.15139|.	2.52;2.45;2.45|.	5.42|5.42	4.39|4.39	0.52855|0.52855	.|.	0.273434|.	0.26394|.	N|.	0.024625|.	T|T	0.37972|0.37972	0.1023|0.1023	L|L	0.34521|0.34521	1.04|1.04	0.25482|0.25482	N|N	0.987728|0.987728	B;B;B|.	0.26902|.	0.033;0.163;0.104|.	B;B;B|.	0.22880|.	0.006;0.042;0.017|.	T|T	0.23119|0.23119	-1.0197|-1.0197	10|5	0.87932|.	D|.	0|.	-17.7796|-17.7796	11.4623|11.4623	0.50217|0.50217	0.0839:0.0:0.9161:0.0|0.0839:0.0:0.9161:0.0	.|.	811;811;811|.	Q9H0D2;Q9H0D2-2;Q9H0D2-3|.	ZN541_HUMAN;.;.|.	L|W	811|402	ENSP00000375770:P811L;ENSP00000313258:P811L;ENSP00000410847:P811L|.	ENSP00000313258:P811L|.	P|R	-|-	2|1	0|2	ZNF541|ZNF541	52735992|52735992	0.655000|0.655000	0.27376|0.27376	0.421000|0.421000	0.26609|0.26609	0.925000|0.925000	0.55904|0.55904	2.213000|2.213000	0.42844|0.42844	1.528000|1.528000	0.49103|0.49103	0.491000|0.491000	0.48974|0.48974	CCG|CGG	ZNF541	-	NULL	ENSG00000118156		0.522	ZNF541-001	KNOWN	basic|appris_candidate|exp_conf	protein_coding	ZNF541	HGNC	protein_coding	OTTHUMT00000280415.1	128	0.00	0	G	NM_032255		48044180	48044180	-1	no_errors	ENST00000314121	ensembl	human	known	69_37n	missense	87	23.01	26	SNP	0.321	A
