#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_ENSG_ID	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_Ens_Gene	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	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_Mutation_Status	i_Normal_Alt_Count	i_Normal_Ref_Count	i_Normal_VAF	i_ORegAnno_bin	i_PurityEst	i_RNA_Tum_Ref_count	i_RNA_Tum_VAF	i_RNA_Tum_Var_count	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Tier	i_Tumor_Alt_Count	i_Tumor_Ref_Count	i_Tumor_VAF	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_WGS_Norm_Ref_count	i_WGS_Norm_VAF	i_WGS_Norm_Var_count	i_WGS_Tum_Ref_count	i_WGS_Tum_VAF	i_WGS_Tum_Var_count	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_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_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_rs_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
DHX32	55760	genome.wustl.edu	37	10	127555678	127555678	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr10:127555678G>T	ENST00000284690.3	-	2	847	c.357C>A	c.(355-357)caC>caA	p.H119Q	DHX32_ENST00000284688.6_Missense_Mutation_p.H119Q	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	119	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CAGTCTGCTTGTGGACCTGTG	0.517																																																	0								ENSG00000089876						119.0	98.0	105.0					10																	127555678		2203	4300	6503	DHX32	SO:0001583	missense	0			-	HGNC		CCDS7652.1	10q26.11-q26.2	2008-01-07	2004-01-29	2004-01-30	ENSG00000089876	ENSG00000089876		"""DEAH-boxes"""	16717	protein-coding gene	gene with protein product		607960	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 32"""	DDX32			Standard	NM_018180		Approved	FLJ10889, FLJ10694, DHLP1	uc001ljf.1	Q7L7V1	OTTHUMG00000019238	ENST00000284690.3:c.357C>A	10.37:g.127555678G>T	ENSP00000284690:p.His119Gln	Somatic	0	35	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	41	8.89	A8MSV2|D3DRF9|Q49AG5|Q5T3L0|Q5T3L5|Q96NY1|Q9BUN0|Q9H769|Q9NSL5|Q9NV74|Q9NVJ7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd	p.H119Q	ENST00000284690.3	37	c.357	CCDS7652.1	10	.	.	.	.	.	.	.	.	.	.	G	13.22	2.173110	0.38413	.	.	ENSG00000089876	ENST00000284690;ENST00000284688	T;T	0.12147	2.71;2.71	5.53	3.71	0.42584	DEAD-like helicase (1);	0.262122	0.43747	D	0.000536	T	0.11580	0.0282	L	0.44542	1.39	0.21355	N	0.999716	B	0.27351	0.176	B	0.19391	0.025	T	0.19844	-1.0293	10	0.87932	D	0	-24.0949	8.4152	0.32668	0.1423:0.1279:0.7298:0.0	.	119	Q7L7V1	DHX32_HUMAN	Q	119	ENSP00000284690:H119Q;ENSP00000284688:H119Q	ENSP00000284688:H119Q	H	-	3	2	DHX32	127545668	0.978000	0.34361	1.000000	0.80357	0.887000	0.51463	1.556000	0.36288	0.906000	0.36621	-0.136000	0.14681	CAC	-	superfamily_P-loop_NTPase,pfscan_Helicase_ATP-bd		0.517	DHX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX32	protein_coding	OTTHUMT00000050945.2	G	NM_018180	-		127555678	-1	no_errors	ENST00000284690	ensembl	human	known	74_37	missense	SNP	0.997	T
FMNL2	114793	genome.wustl.edu	37	2	153475473	153475473	+	Silent	SNP	G	G	A			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr2:153475473G>A	ENST00000288670.9	+	14	1795	c.1428G>A	c.(1426-1428)gaG>gaA	p.E476E	FMNL2_ENST00000475377.2_5'Flank	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	476					cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						ATGAGCTAGAGAAACAAGGGA	0.408																																																	0								ENSG00000157827						75.0	73.0	74.0					2																	153475473		1865	4097	5962	FMNL2	SO:0001819	synonymous_variant	0			-	HGNC	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.1428G>A	2.37:g.153475473G>A		Somatic	0	48	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	66	15.38	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour	p.E476	ENST00000288670.9	37	c.1428	CCDS46429.1	2																																																																																			-	NULL		0.408	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL2	protein_coding	OTTHUMT00000333582.2	G	NM_052905	-		153475473	+1	no_errors	ENST00000288670	ensembl	human	known	74_37	silent	SNP	1.000	A
FMNL2	114793	genome.wustl.edu	37	2	153475531	153475531	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr2:153475531G>A	ENST00000288670.9	+	14	1853	c.1486G>A	c.(1486-1488)Gtt>Att	p.V496I	FMNL2_ENST00000475377.2_5'Flank	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	496					cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CATACTGCCAGTTGTGGCTTC	0.512																																																	0								ENSG00000157827						72.0	74.0	74.0					2																	153475531		1924	4129	6053	FMNL2	SO:0001583	missense	0			-	HGNC	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.1486G>A	2.37:g.153475531G>A	ENSP00000288670:p.Val496Ile	Somatic	0	39	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	76	14.61	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour	p.V496I	ENST00000288670.9	37	c.1486	CCDS46429.1	2	.	.	.	.	.	.	.	.	.	.	G	19.18	3.777129	0.70107	.	.	ENSG00000157827	ENST00000288670	D	0.90133	-2.62	5.57	5.57	0.84162	.	0.415706	0.29692	N	0.011445	T	0.80959	0.4724	N	0.08118	0	0.80722	D	1	B	0.22683	0.073	B	0.21917	0.037	T	0.76719	-0.2856	10	0.36615	T	0.2	.	12.8339	0.57761	0.0745:0.0:0.9255:0.0	.	496	Q96PY5-3	.	I	496	ENSP00000288670:V496I	ENSP00000288670:V496I	V	+	1	0	FMNL2	153183777	1.000000	0.71417	0.293000	0.24932	0.974000	0.67602	5.805000	0.69143	2.612000	0.88384	0.650000	0.86243	GTT	-	NULL		0.512	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL2	protein_coding	OTTHUMT00000333582.2	G	NM_052905	-		153475531	+1	no_errors	ENST00000288670	ensembl	human	known	74_37	missense	SNP	0.896	A
SEPT5	5413	genome.wustl.edu	37	22	19706405	19706474	+	Intron	DEL	GGTCCCCGTCCCCGCGCGCCACGGCCCGCCAGCGCCTAGGCTCAGCCCTTCCCTCCGCAGCGGCCTCGCA	GGTCCCCGTCCCCGCGCGCCACGGCCCGCCAGCGCCTAGGCTCAGCCCTTCCCTCCGCAGCGGCCTCGCA	-	rs114221790|rs540232044|rs145126962	byFrequency	TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	GGTCCCCGTCCCCGCGCGCCACGGCCCGCCAGCGCCTAGGCTCAGCCCTTCCCTCCGCAGCGGCCTCGCA	GGTCCCCGTCCCCGCGCGCCACGGCCCGCCAGCGCCTAGGCTCAGCCCTTCCCTCCGCAGCGGCCTCGCA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr22:19706405_19706474delGGTCCCCGTCCCCGCGCGCCACGGCCCGCCAGCGCCTAGGCTCAGCCCTTCCCTCCGCAGCGGCCTCGCA	ENST00000455784.2	+	3	179				SEPT5_ENST00000383045.3_Intron|SEPT5_ENST00000438754.2_Intron|SEPT5_ENST00000490204.1_3'UTR|SEPT5_ENST00000406395.1_Intron	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5						cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CTCGGCATGGGGTCCCCGTCCCCGCGCGCCACGGCCCGCCAGCGCCTAGGCTCAGCCCTTCCCTCCGCAGCGGCCTCGCAGGTCCGCGGC	0.752																																																	0								ENSG00000184702																																			SEPT5	SO:0001627	intron_variant	0				HGNC	Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"""Septins"""	9164	protein-coding gene	gene with protein product		602724	"""peanut-like 1 (Drosophila)"""	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.55-651GGTCCCCGTCCCCGCGCGCCACGGCCCGCCAGCGCCTAGGCTCAGCCCTTCCCTCCGCAGCGGCCTCGCA>-	22.37:g.19706405_19706474delGGTCCCCGTCCCCGCGCGCCACGGCCCGCCAGCGCCTAGGCTCAGCCCTTCCCTCCGCAGCGGCCTCGCA		Somatic	NA	NA	NA		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	O15251|Q96MY5	Splice_Site	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000455784.2	37	c.NULL	CCDS13764.1	22																																																																																			-	-		0.752	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT5	protein_coding	OTTHUMT00000317937.1	GGTCCCCGTCCCCGCGCGCCACGGCCCGCCAGCGCCTAGGCTCAGCCCTTCCCTCCGCAGCGGCCTCGCA	NM_002688			19706474	+1	no_errors	ENST00000490204	ensembl	human	putative	74_37	splice_site_del	DEL	0.001:0.001:0.000:0.000:0.000:0.000:0.000:0.001:0.000:0.000:0.001:0.000:0.228:0.234:0.241:0.322:0.327:0.699:0.694:0.703:0.739:0.769:0.806:0.810:0.791:0.694:0.664:0.665:0.662:0.840:0.858:0.920:0.932:0.929:0.905:0.868:0.689:0.525:0.473:0.458:0.371:0.369:0.365:0.319:0.270:0.205:0.118:0.062:0.038:0.026:0.037:0.153:0.410:0.429:0.415:0.344:0.328:0.109:0.017:0.008:0.013:0.016:0.014:0.010:0.028:0.026:0.027:0.003:0.000:0.000	-
CARD10	29775	genome.wustl.edu	37	22	37906309	37906314	+	In_Frame_Del	DEL	CTCCTT	CTCCTT	-	rs113275238|rs60611523	byFrequency	TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	CTCCTT	CTCCTT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr22:37906309_37906314delCTCCTT	ENST00000403299.1	-	5	1030_1035	c.814_819delAAGGAG	c.(814-819)aaggagdel	p.KE272del	CARD10_ENST00000251973.5_In_Frame_Del_p.KE272del|CARD10_ENST00000406271.3_5'Flank|CARD10_ENST00000494166.1_5'UTR			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	272					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein complex assembly (GO:0006461)|regulation of apoptotic process (GO:0042981)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)	receptor signaling complex scaffold activity (GO:0030159)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					CATTGTCTGGctccttctccttctcc	0.631														1551	0.309704	0.4743	0.2536	5008	,	,		16347	0.3036		0.2535	False		,,,				2504	0.1912																0								ENSG00000100065																																			CARD10	SO:0001651	inframe_deletion	0				HGNC	AF086324	CCDS13948.1	22q13.1	2008-05-22			ENSG00000100065	ENSG00000100065			16422	protein-coding gene	gene with protein product		607209				11259443, 11356195	Standard	NM_014550		Approved	CARMA3, BIMP1	uc003asu.1	Q9BWT7	OTTHUMG00000150592	ENST00000403299.1:c.814_819delAAGGAG	22.37:g.37906315_37906320delCTCCTT	ENSP00000384570:p.Lys272_Glu273del	Somatic	NA	NA	NA		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q14CQ8|Q5TFG6|Q8NC81|Q9UGR5|Q9UGR6|Q9Y3H0	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD	p.KE272in_frame_del	ENST00000403299.1	37	c.819_814	CCDS13948.1	22																																																																																			-	NULL		0.631	CARD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARD10	protein_coding	OTTHUMT00000318997.1	CTCCTT	NM_014550			37906314	-1	no_errors	ENST00000251973	ensembl	human	known	74_37	in_frame_del	DEL	0.939:0.949:0.957:0.963:0.966:0.967	-
SEC16A	9919	genome.wustl.edu	37	9	139360765	139360765	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr9:139360765delG	ENST00000371706.3	-	5	3578	c.3545delC	c.(3544-3546)gcafs	p.A1182fs	SEC16A_ENST00000431893.2_Frame_Shift_Del_p.A1182fs|SEC16A_ENST00000290037.6_Frame_Shift_Del_p.A1182fs|SEC16A_ENST00000313050.7_Frame_Shift_Del_p.A1360fs			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1182	Required for endoplasmic reticulum localization.				COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CAGGCTGTGTGCGCTGTGCAG	0.657																																																	0								ENSG00000148396						9.0	12.0	11.0					9																	139360765		2167	4243	6410	SEC16A	SO:0001589	frameshift_variant	0				HGNC	AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.3545delC	9.37:g.139360765delG	ENSP00000360771:p.Ala1182fs	Somatic	0	59	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	85	29.17	A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	NULL	p.A1360fs	ENST00000371706.3	37	c.4079		9																																																																																			-	NULL		0.657	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	protein_coding	OTTHUMT00000055077.1	G	XM_088459			139360765	-1	no_errors	ENST00000313050	ensembl	human	known	74_37	frame_shift_del	DEL	0.006	-
ATP2C2	9914	genome.wustl.edu	37	16	84444193	84444193	+	Missense_Mutation	SNP	C	C	T	rs371336541		TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr16:84444193C>T	ENST00000262429.4	+	5	526	c.437C>T	c.(436-438)aCt>aTt	p.T146I	ATP2C2_ENST00000416219.2_Missense_Mutation_p.T146I|ATP2C2_ENST00000420010.2_3'UTR	NM_014861.2	NP_055676.2	O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	146					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GTCGTGGTCACTGTCGCCTTC	0.592													C|||	1	0.000199681	0.0	0.0	5008	,	,		16839	0.001		0.0	False		,,,				2504	0.0																0								ENSG00000064270	C	ILE/THR	0,4140		0,0,2070	108.0	106.0	107.0		437	4.6	0.9	16		107	1,8433		0,1,4216	no	missense	ATP2C2	NM_014861.2	89	0,1,6286	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging	146/947	84444193	1,12573	2070	4217	6287	ATP2C2	SO:0001583	missense	0			-	HGNC	AK091051	CCDS42207.1, CCDS67088.1	16q24.1	2010-04-20			ENSG00000064270	ENSG00000064270	3.6.3.8	"""ATPases / P-type"""	29103	protein-coding gene	gene with protein product	"""secretory pathway calcium ATPase 2"""	613082				9734811	Standard	XM_006721355		Approved	KIAA0703, SPCA2	uc002fhx.3	O75185		ENST00000262429.4:c.437C>T	16.37:g.84444193C>T	ENSP00000262429:p.Thr146Ile	Somatic	0	22	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	34	19.05	B4DU76|E7ES94|Q5HYC3|Q5S053|Q68CQ2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase	p.T146I	ENST00000262429.4	37	c.437	CCDS42207.1	16	.	.	.	.	.	.	.	.	.	.	C	15.39	2.820369	0.50633	0.0	1.19E-4	ENSG00000064270	ENST00000416219;ENST00000262429	D;D	0.90620	-2.7;-2.7	4.57	4.57	0.56435	ATPase, P-type, ATPase-associated domain (1);ATPase, P-type,  transmembrane domain (1);	0.266885	0.31370	N	0.007763	D	0.91570	0.7337	L	0.46614	1.455	0.49213	D	0.999761	P;D;D	0.89917	0.931;1.0;1.0	P;D;D	0.91635	0.884;0.997;0.999	D	0.88041	0.2781	10	0.06625	T	0.88	.	12.8442	0.57821	0.0:1.0:0.0:0.0	.	146;163;146	E7ES94;O75185-2;O75185	.;.;AT2C2_HUMAN	I	146	ENSP00000397925:T146I;ENSP00000262429:T146I	ENSP00000262429:T146I	T	+	2	0	ATP2C2	83001694	0.999000	0.42202	0.916000	0.36221	0.256000	0.26092	5.277000	0.65586	2.090000	0.63153	0.585000	0.79938	ACT	-	pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Ca-transp_PMR1		0.592	ATP2C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2C2	protein_coding	OTTHUMT00000433404.1	C	NM_014861	-		84444193	+1	no_errors	ENST00000262429	ensembl	human	known	74_37	missense	SNP	0.993	T
EXOC4	60412	genome.wustl.edu	37	7	133749328	133749329	+	3'UTR	INS	-	-	T	rs33995948|rs386360180|rs386411382	byFrequency	TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr7:133749328_133749329insT	ENST00000253861.4	+	0	3001_3002				EXOC4_ENST00000541309.1_3'UTR|EXOC4_ENST00000545148.1_3'UTR|EXOC4_ENST00000539845.1_3'UTR	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4						cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GTCACACTCACTTTTTTCCTTG	0.465													TTTTTT|TTTTTT|TTTTTTT|insertion	1061	0.211861	0.2995	0.3761	5008	,	,		20790	0.131		0.171	False		,,,				2504	0.1022																0								ENSG00000131558			1072,1,3191		137,0,798,0,1,1196						-4.3	0.0		dbSNP_134	45	1178,0,7074		90,0,998,0,0,3038	no	utr-3	EXOC4	NM_021807.3		227,0,1796,0,1,4234	A1A1,A1A2,A1R,A2A2,A2R,RR		14.2753,25.1642,17.985				2250,1,10265				EXOC4	SO:0001624	3_prime_UTR_variant	0				HGNC	AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.*48->T	7.37:g.133749334_133749334dupT		Somatic	0	8	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	15	34.78	E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000253861.4	37	NULL	CCDS5829.1	7																																																																																			-	-		0.465	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC4	protein_coding	OTTHUMT00000339182.1	-	NM_021807			133749329	+1	no_errors	ENST00000466000	ensembl	human	known	74_37	rna	INS	0.000:0.000	T
DNM1P51	0	genome.wustl.edu	37	15	84954198	84954212	+	RNA	DEL	ATGGGCATGCTGACG	ATGGGCATGCTGACG	-	rs573074632|rs190461010|rs555718846|rs541998372|rs201174466|rs200218409|rs141150768	byFrequency	TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	ATGGGCATGCTGACG	ATGGGCATGCTGACG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr15:84954198_84954212delATGGGCATGCTGACG	ENST00000558801.1	-	0	7553_7567									DNM1 pseudogene 51																		GGGCAGGGGCATGGGCATGCTGACGGTGGTCCTGG	0.651														581	0.116014	0.0106	0.1441	5008	,	,		19911	0.1071		0.2306	False		,,,				2504	0.1299																0								ENSG00000235370																																			DNM1P51			0				HGNC			15q25.2	2013-05-16			ENSG00000259297	ENSG00000235370			48500	pseudogene	pseudogene							Standard			Approved				OTTHUMG00000172438		15.37:g.84954198_84954212delATGGGCATGCTGACG		Somatic	NA	NA	NA		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000558801.1	37	NULL		15																																																																																			-	-		0.651	DNM1P51-001	KNOWN	basic	processed_transcript	DNM1P51	pseudogene	OTTHUMT00000471721.1	ATGGGCATGCTGACG				84954212	-1	no_errors	ENST00000558801	ensembl	human	known	74_37	rna	DEL	1.000:0.996:0.997:0.997:0.990:0.993:1.000:1.000:1.000:0.991:0.992:0.989:0.996:0.997:1.000	-
HTR3B	9177	genome.wustl.edu	37	11	113803102	113803102	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr11:113803102G>T	ENST00000260191.2	+	5	717	c.460G>T	c.(460-462)Gcg>Tcg	p.A154S	HTR3B_ENST00000537778.1_Missense_Mutation_p.A143S	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	154					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ion channel activity (GO:0005216)|serotonin receptor activity (GO:0004993)|serotonin-activated cation-selective channel activity (GO:0005232)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)	Ergoloid mesylate(DB01049)	GGTGGTCTCTGCGTGCAGTTT	0.433																																																	0								ENSG00000149305						182.0	157.0	166.0					11																	113803102		2201	4296	6497	HTR3B	SO:0001583	missense	0			-	HGNC	AF080582	CCDS8364.1	11q23.1	2012-05-22	2012-02-03		ENSG00000149305	ENSG00000149305		"""5-HT (serotonin) receptors"", ""Ligand-gated ion channels / 5-HT (serotonin) receptors, ionotropic"""	5298	protein-coding gene	gene with protein product		604654	"""5-hydroxytryptamine (serotonin) receptor 3B"""			9950429, 10521471	Standard	NM_006028		Approved	5-HT3B	uc001pok.3	O95264	OTTHUMG00000168210	ENST00000260191.2:c.460G>T	11.37:g.113803102G>T	ENSP00000260191:p.Ala154Ser	Somatic	0	33	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	24	11.11	B0YJ23|Q0VJC3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_B,prints_5HT3_rcpt,prints_Neur_channel,prints_5HT3_rcpt_A,tigrfam_Neur_channel	p.A154S	ENST00000260191.2	37	c.460	CCDS8364.1	11	.	.	.	.	.	.	.	.	.	.	G	19.18	3.776766	0.70107	.	.	ENSG00000149305	ENST00000260191;ENST00000537778	T;T	0.77229	-1.08;-1.08	5.82	4.89	0.63831	Neurotransmitter-gated ion-channel ligand-binding (3);	0.057703	0.64402	D	0.000002	T	0.76870	0.4048	L	0.35414	1.06	0.58432	D	0.99999	D;D	0.62365	0.99;0.991	D;P	0.64237	0.923;0.883	T	0.72928	-0.4143	10	0.02654	T	1	-9.3624	13.0412	0.58899	0.0816:0.0:0.9184:0.0	.	143;154	O95264-2;O95264	.;5HT3B_HUMAN	S	154;143	ENSP00000260191:A154S;ENSP00000443118:A143S	ENSP00000260191:A154S	A	+	1	0	HTR3B	113308312	1.000000	0.71417	0.687000	0.30102	0.859000	0.49053	4.577000	0.60922	1.402000	0.46780	0.563000	0.77884	GCG	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel		0.433	HTR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR3B	protein_coding	OTTHUMT00000398842.1	G	NM_006028	-		113803102	+1	no_errors	ENST00000260191	ensembl	human	known	74_37	missense	SNP	1.000	T
FMNL2	114793	genome.wustl.edu	37	2	153475615	153475615	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr2:153475615G>A	ENST00000288670.9	+	14	1937	c.1570G>A	c.(1570-1572)Gga>Aga	p.G524R	FMNL2_ENST00000475377.2_5'Flank	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	524					cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CGCTTCCTCAGGACCCTTGCC	0.552																																																	0								ENSG00000157827						48.0	52.0	51.0					2																	153475615		1963	4142	6105	FMNL2	SO:0001583	missense	0			-	HGNC	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.1570G>A	2.37:g.153475615G>A	ENSP00000288670:p.Gly524Arg	Somatic	0	31	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	119	15.00	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour	p.G524R	ENST00000288670.9	37	c.1570	CCDS46429.1	2	.	.	.	.	.	.	.	.	.	.	G	10.90	1.482125	0.26598	.	.	ENSG00000157827	ENST00000288670;ENST00000421344	T	0.41758	0.99	5.57	4.68	0.58851	.	0.878476	0.10412	N	0.677833	T	0.24699	0.0599	N	0.08118	0	0.80722	D	1	B	0.16603	0.018	B	0.15870	0.014	T	0.04796	-1.0926	10	0.13470	T	0.59	.	13.845	0.63461	0.0731:0.0:0.9269:0.0	.	524	Q96PY5-3	.	R	524;21	ENSP00000288670:G524R	ENSP00000288670:G524R	G	+	1	0	FMNL2	153183861	0.950000	0.32346	0.156000	0.22583	0.036000	0.12997	3.749000	0.55150	2.612000	0.88384	0.650000	0.86243	GGA	-	NULL		0.552	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL2	protein_coding	OTTHUMT00000333582.2	G	NM_052905	-		153475615	+1	no_errors	ENST00000288670	ensembl	human	known	74_37	missense	SNP	0.686	A
BRWD3	254065	genome.wustl.edu	37	X	79989633	79989633	+	Missense_Mutation	SNP	T	T	G			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chrX:79989633T>G	ENST00000373275.4	-	11	1286	c.1070A>C	c.(1069-1071)gAa>gCa	p.E357A		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	357					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)					breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TGACTCTAATTCAGCAATTTT	0.333																																																	0								ENSG00000165288						118.0	109.0	112.0					X																	79989633		2203	4298	6501	BRWD3	SO:0001583	missense	0			-	HGNC		CCDS14447.1	Xq21.1	2013-01-09			ENSG00000165288	ENSG00000165288		"""WD repeat domain containing"""	17342	protein-coding gene	gene with protein product		300553				15543602, 16094372	Standard	NM_153252		Approved	FLJ38568, MRX93	uc004edt.3	Q6RI45	OTTHUMG00000021908	ENST00000373275.4:c.1070A>C	X.37:g.79989633T>G	ENSP00000362372:p.Glu357Ala	Somatic	0	177	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	29	89	24.58	C9IZ39|C9J3F3|Q2T9J6|Q5JRN1|Q6RI37|Q6RI42|Q6RI44|Q8N916	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain	p.E357A	ENST00000373275.4	37	c.1070	CCDS14447.1	X	.	.	.	.	.	.	.	.	.	.	T	23.3	4.396578	0.83011	.	.	ENSG00000165288	ENST00000373275	T	0.60299	0.2	5.34	5.34	0.76211	WD40/YVTN repeat-like-containing domain (1);Quinoprotein amine dehydrogenase, beta chain-like (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.60090	0.2242	N	0.20685	0.6	0.58432	D	0.999994	D	0.64830	0.994	D	0.66602	0.945	T	0.59616	-0.7421	9	.	.	.	-16.9539	14.3934	0.66996	0.0:0.0:0.0:1.0	.	357	Q6RI45	BRWD3_HUMAN	A	357	ENSP00000362372:E357A	.	E	-	2	0	BRWD3	79876289	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.716000	0.68437	1.976000	0.57569	0.441000	0.28932	GAA	-	pfam_WD40_repeat,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.333	BRWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRWD3	protein_coding	OTTHUMT00000057344.1	T	NM_153252	-		79989633	-1	no_errors	ENST00000373275	ensembl	human	known	74_37	missense	SNP	1.000	G
DLGAP1	9229	genome.wustl.edu	37	18	3597089	3597090	+	Intron	INS	-	-	T			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr18:3597089_3597090insT	ENST00000315677.3	-	8	2187				DLGAP1-AS1_ENST00000576606.1_RNA|DLGAP1_ENST00000400145.2_Intron|DLGAP1-AS1_ENST00000575606.1_RNA|DLGAP1_ENST00000515196.2_Intron|DLGAP1-AS1_ENST00000577995.1_RNA|DLGAP1_ENST00000584874.1_Intron|DLGAP1_ENST00000400147.2_Intron|DLGAP1_ENST00000400150.3_Intron|DLGAP1-AS1_ENST00000317114.1_RNA|DLGAP1-AS1_ENST00000574411.1_RNA|DLGAP1_ENST00000539435.1_Intron|DLGAP1_ENST00000400155.1_Intron|DLGAP1_ENST00000581699.1_Intron|DLGAP1_ENST00000400149.3_Intron|DLGAP1_ENST00000581527.1_Intron|DLGAP1-AS1_ENST00000573355.1_RNA|DLGAP1_ENST00000534970.1_Intron	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1						synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CCTCGTTACTCTTTTTTTTTTC	0.45																																																	0								ENSG00000177337																																			DLGAP1-AS1	SO:0001627	intron_variant	0				HGNC	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.1592-14843->A	18.37:g.3597099_3597099dupT		Somatic	0	27	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	41	12.77	A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000315677.3	37	NULL	CCDS11836.1	18																																																																																			-	-		0.450	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP1-AS1	protein_coding	OTTHUMT00000254394.4	-				3597090	+1	no_errors	ENST00000317114	ensembl	human	known	74_37	rna	INS	0.000:0.002	T
CAPZA1	829	genome.wustl.edu	37	1	113202209	113202209	+	Intron	DEL	T	T	-			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr1:113202209delT	ENST00000263168.3	+	7	1178				CAPZA1_ENST00000476936.1_Intron	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1						actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|WASH complex (GO:0071203)	actin binding (GO:0003779)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTCTCTCTCTTTTTTTTTTT	0.403																																																	0								ENSG00000116489																																			CAPZA1	SO:0001627	intron_variant	0				HGNC	U56637	CCDS30805.1	1p13.2	2014-05-09			ENSG00000116489	ENSG00000116489			1488	protein-coding gene	gene with protein product		601580				7665558, 9119363	Standard	NM_006135		Approved		uc001ecj.1	P52907	OTTHUMG00000011769	ENST00000263168.3:c.507-114T>-	1.37:g.113202209delT		Somatic	0	29	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	36	10.00	Q53FQ6|Q6FHD5	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000263168.3	37	NULL	CCDS30805.1	1																																																																																			-	-		0.403	CAPZA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPZA1	protein_coding	OTTHUMT00000032567.2	T	NM_006135			113202209	+1	no_errors	ENST00000466066	ensembl	human	known	74_37	rna	DEL	0.039	-
OR6T1	219874	genome.wustl.edu	37	11	123813912	123813912	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr11:123813912C>A	ENST00000321252.2	-	1	668	c.634G>T	c.(634-636)Gct>Tct	p.A212S		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	212						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GAGGTCAGAGCCAGTGAGCCC	0.552																																																	0								ENSG00000181499						81.0	75.0	77.0					11																	123813912		2202	4299	6501	OR6T1	SO:0001583	missense	0			-	HGNC	AB065759	CCDS31700.1	11q24.1	2012-08-09			ENSG00000181499	ENSG00000181499		"""GPCR / Class A : Olfactory receptors"""	14848	protein-coding gene	gene with protein product							Standard	NM_001005187		Approved		uc010sab.2	Q8NGN1	OTTHUMG00000165962	ENST00000321252.2:c.634G>T	11.37:g.123813912C>A	ENSP00000325203:p.Ala212Ser	Somatic	0	35	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	5	82.76	Q6IFE7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A212S	ENST00000321252.2	37	c.634	CCDS31700.1	11	.	.	.	.	.	.	.	.	.	.	C	0.469	-0.885376	0.02511	.	.	ENSG00000181499	ENST00000321252	T	0.37411	1.2	3.7	-2.5	0.06384	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.19366	0.0465	N	0.16016	0.355	0.09310	N	1	B	0.24186	0.099	B	0.25405	0.06	T	0.21930	-1.0231	9	0.59425	D	0.04	-1.0142	6.6296	0.22849	0.0:0.4763:0.1293:0.3945	.	212	Q8NGN1	OR6T1_HUMAN	S	212	ENSP00000325203:A212S	ENSP00000325203:A212S	A	-	1	0	OR6T1	123319122	0.000000	0.05858	0.000000	0.03702	0.037000	0.13140	-2.650000	0.00858	-0.746000	0.04766	-1.119000	0.02030	GCT	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.552	OR6T1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR6T1	protein_coding	OTTHUMT00000387264.1	C	NM_001005187	-		123813912	-1	no_errors	ENST00000321252	ensembl	human	known	74_37	missense	SNP	0.000	A
NOS2	4843	genome.wustl.edu	37	17	26101441	26101441	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr17:26101441C>T	ENST00000313735.6	-	12	1551	c.1318G>A	c.(1318-1320)Gca>Aca	p.A440T		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	440					arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	AAGGATTCTGCAGCCGAGTGG	0.562																																																	0								ENSG00000007171						96.0	92.0	93.0					17																	26101441		2203	4300	6503	NOS2	SO:0001583	missense	0			-	HGNC	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.1318G>A	17.37:g.26101441C>T	ENSP00000327251:p.Ala440Thr	Somatic	0	35	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	60	9.09	A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin	p.A440T	ENST00000313735.6	37	c.1318	CCDS11223.1	17	.	.	.	.	.	.	.	.	.	.	C	8.253	0.809511	0.16537	.	.	ENSG00000007171	ENST00000313735;ENST00000379105;ENST00000302153	T	0.22743	1.94	5.67	3.57	0.40892	Nitric oxide synthase, oxygenase domain (2);	0.304797	0.31461	N	0.007616	T	0.13030	0.0316	N	0.16903	0.455	0.25596	N	0.986649	B;B	0.31256	0.138;0.316	B;B	0.34093	0.033;0.175	T	0.22836	-1.0205	10	0.09338	T	0.73	.	14.2229	0.65839	0.4199:0.5801:0.0:0.0	.	440;440	F8WEM3;P35228	.;NOS2_HUMAN	T	440;401;440	ENSP00000327251:A440T	ENSP00000305638:A440T	A	-	1	0	NOS2	23125568	0.859000	0.29813	0.132000	0.22025	0.963000	0.63663	1.635000	0.37134	0.632000	0.30432	0.561000	0.74099	GCA	-	pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk		0.562	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOS2	protein_coding	OTTHUMT00000255597.1	C	NM_000625	-		26101441	-1	no_errors	ENST00000313735	ensembl	human	known	74_37	missense	SNP	0.434	T
TMPRSS15	5651	genome.wustl.edu	37	21	19732162	19732162	+	Silent	SNP	G	G	A			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr21:19732162G>A	ENST00000284885.3	-	8	825	c.792C>T	c.(790-792)tcC>tcT	p.S264S		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	264	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TCAGTTTAATGGAAAGTCCTT	0.264																																																	0								ENSG00000154646						29.0	34.0	33.0					21																	19732162		2182	4260	6442	TMPRSS15	SO:0001819	synonymous_variant	0			-	HGNC		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.792C>T	21.37:g.19732162G>A		Somatic	1	141	0.70		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	42	35.38	Q2NKL7	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt	p.S264	ENST00000284885.3	37	c.792	CCDS13571.1	21																																																																																			-	pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom		0.264	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS15	protein_coding	OTTHUMT00000158231.2	G	NM_002772	-		19732162	-1	no_errors	ENST00000284885	ensembl	human	known	74_37	silent	SNP	0.954	A
SNORA11	677799	genome.wustl.edu	37	14	70270922	70270922	+	RNA	DEL	T	T	-	rs566317626		TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr14:70270922delT	ENST00000408133.1	-	0	126									small nucleolar RNA, H/ACA box 11																		ATGGATTCTCTTTTTTTTTTT	0.353																																																	0								ENSG00000221060																																			SNORA11			0				RFAM	AM055729		Xp11.21	2013-09-05			ENSG00000221716	ENSG00000221716		"""ncRNAs / Small nucleolar RNAs : H/ACA box containing"""	32599	non-coding RNA	RNA, small nucleolar	"""small nucleolar RNA, H/ACA box 11A"""	300662				16361266, 16381836	Standard	NR_002953		Approved	U107, SNORA11A	uc021ptl.1				14.37:g.70270922delT		Somatic	0	9	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	8	33.33		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000408133.1	37	NULL		14																																																																																			-	-		0.353	SNORA11.1-201	NOVEL	basic	snoRNA	ENSG00000221060	snoRNA		T	NR_002953			70270922	-1	no_errors	ENST00000408133	ensembl	human	novel	74_37	rna	DEL	0.003	-
DKK1	22943	genome.wustl.edu	37	10	54074610	54074610	+	Intron	SNP	C	C	T			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr10:54074610C>T	ENST00000373970.3	+	2	382				PRKG1-AS1_ENST00000420193.1_RNA|DKK1_ENST00000467359.1_3'UTR	NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1						cell morphogenesis involved in differentiation (GO:0000904)|embryonic limb morphogenesis (GO:0030326)|endoderm formation (GO:0001706)|extracellular negative regulation of signal transduction (GO:1900116)|face morphogenesis (GO:0060325)|forebrain development (GO:0030900)|hair follicle development (GO:0001942)|mesoderm formation (GO:0001707)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901296)|negative regulation of cardiac muscle cell differentiation (GO:2000726)|negative regulation of mesodermal cell fate specification (GO:0042662)|negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of protein complex assembly (GO:0031333)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of heart induction by negative regulation of canonical Wnt signaling pathway (GO:0090082)|regulation of endodermal cell fate specification (GO:0042663)|regulation of receptor internalization (GO:0002090)|response to retinoic acid (GO:0032526)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)|low-density lipoprotein particle receptor binding (GO:0050750)|receptor antagonist activity (GO:0048019)|signal transducer activity (GO:0004871)			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						GGACTGTGATCAGCGCCCGGG	0.602											OREG0020191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000107984																																			DKK1	SO:0001627	intron_variant	0			-	HGNC		CCDS7246.1	10q11.2	2013-05-15	2013-05-15		ENSG00000107984	ENSG00000107984			2891	protein-coding gene	gene with protein product		605189	"""dickkopf (Xenopus laevis) homolog 1"", ""dickkopf 1 homolog (Xenopus laevis)"""				Standard	NM_012242		Approved	SK, DKK-1	uc001jjr.3	O94907	OTTHUMG00000018247	ENST00000373970.3:c.244-73C>T	10.37:g.54074610C>T		Somatic	0	48	0.00	997	0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	42	10.64	B2RC19	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000373970.3	37	NULL	CCDS7246.1	10																																																																																			-	-		0.602	DKK1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	DKK1	protein_coding	OTTHUMT00000048100.1	C		-		54074610	+1	no_errors	ENST00000467359	ensembl	human	known	74_37	rna	SNP	0.002	T
FMNL2	114793	genome.wustl.edu	37	2	153475465	153475465	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr2:153475465G>A	ENST00000288670.9	+	14	1787	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K	FMNL2_ENST00000475377.2_5'Flank	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	474					cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AAAGATTCATGAGCTAGAGAA	0.403																																																	0								ENSG00000157827						70.0	68.0	68.0					2																	153475465		1854	4089	5943	FMNL2	SO:0001583	missense	0			-	HGNC	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.1420G>A	2.37:g.153475465G>A	ENSP00000288670:p.Glu474Lys	Somatic	0	50	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	67	14.10	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour	p.E474K	ENST00000288670.9	37	c.1420	CCDS46429.1	2	.	.	.	.	.	.	.	.	.	.	G	31	5.059527	0.93846	.	.	ENSG00000157827	ENST00000288670	T	0.44881	0.91	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.68044	0.2958	M	0.81497	2.545	0.80722	D	1	D	0.67145	0.996	D	0.76071	0.987	T	0.67051	-0.5768	10	0.40728	T	0.16	.	19.68	0.95958	0.0:0.0:1.0:0.0	.	474	Q96PY5-3	.	K	474	ENSP00000288670:E474K	ENSP00000288670:E474K	E	+	1	0	FMNL2	153183711	1.000000	0.71417	0.992000	0.48379	0.942000	0.58702	9.550000	0.98110	2.641000	0.89580	0.650000	0.86243	GAG	-	pfam_FH3_dom		0.403	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL2	protein_coding	OTTHUMT00000333582.2	G	NM_052905	-		153475465	+1	no_errors	ENST00000288670	ensembl	human	known	74_37	missense	SNP	1.000	A
CCDC40	55036	genome.wustl.edu	37	17	78064186	78064248	+	Intron	DEL	AGCACGTGCATGAACAACACAGGACACACACAGCACGTGCATGAACAACACAGGACACACACA	AGCACGTGCATGAACAACACAGGACACACACAGCACGTGCATGAACAACACAGGACACACACA	-	rs560799084|rs566331147|rs56241848|rs545243598|rs55959150|rs58840151|rs71163918|rs59101374|rs76140542|rs59367553|rs201721132|rs527311816|rs552161071|rs60807430|rs56041769	byFrequency	TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	AGCACGTGCATGAACAACACAGGACACACACAGCACGTGCATGAACAACACAGGACACACACA	AGCACGTGCATGAACAACACAGGACACACACAGCACGTGCATGAACAACACAGGACACACACA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr17:78064186_78064248delAGCACGTGCATGAACAACACAGGACACACACAGCACGTGCATGAACAACACAGGACACACACA	ENST00000397545.4	+	17	2859				CCDC40_ENST00000573903.1_Intron|CCDC40_ENST00000374877.3_Stop_Codon_Del	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40						axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ggacacacacagcacgtgcatgaacaacacaggacacacacagcacgtgcatgaacaacacaggacacacacaagcacgtgca	0.555																																																	0								ENSG00000141519																																			CCDC40	SO:0001627	intron_variant	0				HGNC	AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.2832+503AGCACGTGCATGAACAACACAGGACACACACAGCACGTGCATGAACAACACAGGACACACACA>-	17.37:g.78064186_78064248delAGCACGTGCATGAACAACACAGGACACACACAGCACGTGCATGAACAACACAGGACACACACA		Somatic	NA	NA	NA		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_E3_ubiquit_lig_BRE1	p.A1028fs	ENST00000397545.4	37	c.3081_3093	CCDS42395.1	17																																																																																			-	NULL		0.555	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC40	protein_coding	OTTHUMT00000256005.2	AGCACGTGCATGAACAACACAGGACACACACAGCACGTGCATGAACAACACAGGACACACACA	XM_371082			78064248	+1	no_errors	ENST00000374877	ensembl	human	known	74_37	frame_shift_del	DEL	0.037:0.042:0.046:0.050:0.053:0.056:0.059:0.062:0.065:0.067:0.068:0.070:0.071	-
USP7	7874	genome.wustl.edu	37	16	8988658	8988658	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr16:8988658C>T	ENST00000344836.4	-	29	3292	c.3094G>A	c.(3094-3096)Gag>Aag	p.E1032K	USP7_ENST00000381886.4_Missense_Mutation_p.E1016K|USP7_ENST00000535863.1_Missense_Mutation_p.E933K	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	1032					maintenance of DNA methylation (GO:0010216)|multicellular organismal development (GO:0007275)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|protein deubiquitination (GO:0016579)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|transcription-coupled nucleotide-excision repair (GO:0006283)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|p53 binding (GO:0002039)|protein C-terminus binding (GO:0008022)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						AACTCCTTCTCCTGGATGTCC	0.577																																																	0								ENSG00000187555						105.0	102.0	103.0					16																	8988658		2197	4300	6497	USP7	SO:0001583	missense	0			-	HGNC	Z72499	CCDS32385.1, CCDS66941.1	16p13.3	2008-04-11	2005-08-08			ENSG00000187555		"""Ubiquitin-specific peptidases"""	12630	protein-coding gene	gene with protein product		602519	"""ubiquitin specific protease 7 (herpes virus-associated)"""	HAUSP		12838346, 9925944	Standard	NM_003470		Approved		uc002czl.2	Q93009		ENST00000344836.4:c.3094G>A	16.37:g.8988658C>T	ENSP00000343535:p.Glu1032Lys	Somatic	0	23	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	59	14.49	A6NMY8|B7Z815|H0Y3G8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Peptidase_C19/C67,pfam_MATH,pfam_USP7_ICP0-binding_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19/C67	p.E1032K	ENST00000344836.4	37	c.3094	CCDS32385.1	16	.	.	.	.	.	.	.	.	.	.	C	28.1	4.892273	0.91889	.	.	ENSG00000187555	ENST00000344836;ENST00000381886;ENST00000535863	T;T	0.07216	3.21;3.22	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.12987	0.0315	M	0.61703	1.905	0.80722	D	1	P;P	0.40083	0.702;0.702	B;B	0.37015	0.239;0.239	T	0.03315	-1.1049	10	0.34782	T	0.22	.	19.3482	0.94373	0.0:1.0:0.0:0.0	.	1032;1016	Q93009;B7Z815	UBP7_HUMAN;.	K	1032;1040;933	ENSP00000343535:E1032K;ENSP00000443646:E933K	ENSP00000343535:E1032K	E	-	1	0	USP7	8896159	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.345000	0.79337	2.577000	0.86979	0.455000	0.32223	GAG	-	NULL		0.577	USP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP7	protein_coding	OTTHUMT00000434268.2	C		-		8988658	-1	no_errors	ENST00000344836	ensembl	human	known	74_37	missense	SNP	1.000	T
EIF4G3	8672	genome.wustl.edu	37	1	21167469	21167469	+	Missense_Mutation	SNP	A	A	G			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr1:21167469A>G	ENST00000264211.8	-	24	3967	c.3773T>C	c.(3772-3774)tTt>tCt	p.F1258S	EIF4G3_ENST00000537738.1_Missense_Mutation_p.F748S|EIF4G3_ENST00000536266.1_Missense_Mutation_p.F862S|RNU7-200P_ENST00000516105.1_RNA|EIF4G3_ENST00000602326.1_Missense_Mutation_p.F1264S|EIF4G3_ENST00000374937.3_Missense_Mutation_p.F1264S|EIF4G3_ENST00000400422.1_Missense_Mutation_p.F1258S|EIF4G3_ENST00000374935.3_Missense_Mutation_p.F978S	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1258	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CACTCTCACAAAAACATGTAG	0.478																																																	0								ENSG00000075151						101.0	95.0	97.0					1																	21167469		2203	4300	6503	EIF4G3	SO:0001583	missense	0			-	HGNC	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.3773T>C	1.37:g.21167469A>G	ENSP00000264211:p.Phe1258Ser	Somatic	0	47	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	32	54	37.21	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.F1264S	ENST00000264211.8	37	c.3791	CCDS214.1	1	.	.	.	.	.	.	.	.	.	.	A	25.2	4.615493	0.87359	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266;ENST00000435383	T;T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34;1.34	5.48	5.48	0.80851	Initiation factor eIF-4 gamma, MA3 (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.64080	0.2566	M	0.83953	2.67	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.70223	-0.4931	10	0.87932	D	0	-11.9593	15.5579	0.76213	1.0:0.0:0.0:0.0	.	1453;978;862;1264;1258	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	S	1258;1454;1258;978;748;1264;862;24	ENSP00000264211:F1258S;ENSP00000383274:F1258S;ENSP00000364071:F978S;ENSP00000442010:F748S;ENSP00000364073:F1264S;ENSP00000444693:F862S	ENSP00000264211:F1258S	F	-	2	0	EIF4G3	21040056	1.000000	0.71417	1.000000	0.80357	0.897000	0.52465	8.923000	0.92808	2.083000	0.62718	0.260000	0.18958	TTT	-	pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI		0.478	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4G3	protein_coding	OTTHUMT00000007467.3	A	NM_003760	-		21167469	-1	no_errors	ENST00000374937	ensembl	human	known	74_37	missense	SNP	1.000	G
FMNL2	114793	genome.wustl.edu	37	2	153475500	153475500	+	Silent	SNP	G	G	A			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr2:153475500G>A	ENST00000288670.9	+	14	1822	c.1455G>A	c.(1453-1455)aaG>aaA	p.K485K	FMNL2_ENST00000475377.2_5'Flank	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	485					cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AAATTCAGAAGAAAGGGGATG	0.443																																																	0								ENSG00000157827						79.0	78.0	78.0					2																	153475500		1886	4101	5987	FMNL2	SO:0001819	synonymous_variant	0			-	HGNC	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.1455G>A	2.37:g.153475500G>A		Somatic	0	40	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	69	17.86	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour	p.K485	ENST00000288670.9	37	c.1455	CCDS46429.1	2																																																																																			-	NULL		0.443	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL2	protein_coding	OTTHUMT00000333582.2	G	NM_052905	-		153475500	+1	no_errors	ENST00000288670	ensembl	human	known	74_37	silent	SNP	1.000	A
ENPEP	2028	genome.wustl.edu	37	4	111427892	111427893	+	In_Frame_Ins	INS	-	-	ATT			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr4:111427892_111427893insATT	ENST00000265162.5	+	4	1360_1361	c.1018_1019insATT	c.(1018-1020)aat>aATTat	p.341_342insY		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	341					angiogenesis (GO:0001525)|angiotensin catabolic process in blood (GO:0002005)|angiotensin maturation (GO:0002003)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|cellular protein metabolic process (GO:0044267)|glomerulus development (GO:0032835)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|brush border (GO:0005903)|cytoplasmic vesicle (GO:0031410)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	aminopeptidase activity (GO:0004177)|metalloaminopeptidase activity (GO:0070006)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)		CTTTGCTATGAATTATTCTCTT	0.287																																																	0								ENSG00000138792																																			ENPEP	SO:0001652	inframe_insertion	0				HGNC	L12468	CCDS3691.1	4q25	2008-02-05			ENSG00000138792	ENSG00000138792	3.4.11.7	"""CD molecules"""	3355	protein-coding gene	gene with protein product		138297				9268642	Standard	NM_001977		Approved	gp160, CD249	uc003iab.4	Q07075	OTTHUMG00000132546	ENST00000265162.5:c.1022_1024dupATT	4.37:g.111427896_111427898dupATT	ENSP00000265162:p.Tyr341_Tyr341dup	Somatic	0	56	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	2	17	10.53	Q504U2	In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.342in_frame_insY	ENST00000265162.5	37	c.1018_1019	CCDS3691.1	4																																																																																			-	pfam_Peptidase_M1_N		0.287	ENPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPEP	protein_coding	OTTHUMT00000255747.2	-				111427893	+1	no_errors	ENST00000265162	ensembl	human	known	74_37	in_frame_ins	INS	0.001:0.000	ATT
SIX4	51804	genome.wustl.edu	37	14	61180804	61180804	+	Missense_Mutation	SNP	G	G	A	rs536442725		TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr14:61180804G>A	ENST00000216513.4	-	3	1726	c.1667C>T	c.(1666-1668)aCg>aTg	p.T556M		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	556					anatomical structure morphogenesis (GO:0009653)|embryonic cranial skeleton morphogenesis (GO:0048701)|generation of neurons (GO:0048699)|inner ear morphogenesis (GO:0042472)|metanephric mesenchyme development (GO:0072075)|myoblast migration (GO:0051451)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of ureteric bud formation (GO:0072107)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of protein localization (GO:0032880)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|skeletal muscle tissue development (GO:0007519)|thymus development (GO:0048538)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		ATTAGGAACCGTGTATACCAC	0.458													G|||	1	0.000199681	0.0	0.0	5008	,	,		18667	0.001		0.0	False		,,,				2504	0.0																0								ENSG00000100625						45.0	44.0	44.0					14																	61180804		2203	4300	6503	SIX4	SO:0001583	missense	0			-	HGNC	AB024687	CCDS9749.2	14q23.1	2012-10-02	2007-07-13		ENSG00000100625	ENSG00000100625		"""Homeoboxes / SINE class"""	10890	protein-coding gene	gene with protein product		606342	"""sine oculis homeobox (Drosophila) homolog 4"", ""sine oculis homeobox homolog 4 (Drosophila)"""			10512683, 10640827	Standard	NM_017420		Approved	AREC3	uc001xfc.3	Q9UIU6	OTTHUMG00000028996	ENST00000216513.4:c.1667C>T	14.37:g.61180804G>A	ENSP00000216513:p.Thr556Met	Somatic	0	42	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	14	32	30.43	Q4QQH5|Q4V764	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.T556M	ENST00000216513.4	37	c.1667	CCDS9749.2	14	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517452	0.64634	.	.	ENSG00000100625	ENST00000216513;ENST00000554079	D;T	0.92299	-3.01;0.61	5.55	5.55	0.83447	.	0.323164	0.28515	N	0.015070	D	0.93220	0.7840	N	0.19112	0.55	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94431	0.7649	10	0.87932	D	0	.	19.5144	0.95157	0.0:0.0:1.0:0.0	.	556	Q9UIU6	SIX4_HUMAN	M	556;229	ENSP00000216513:T556M;ENSP00000451537:T229M	ENSP00000216513:T556M	T	-	2	0	SIX4	60250557	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.778000	0.75043	2.618000	0.88619	0.655000	0.94253	ACG	-	NULL		0.458	SIX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIX4	protein_coding	OTTHUMT00000072397.2	G		-		61180804	-1	no_errors	ENST00000216513	ensembl	human	known	74_37	missense	SNP	1.000	A
UGT3A2	167127	genome.wustl.edu	37	5	36035888	36035888	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr5:36035888A>T	ENST00000282507.3	-	7	1585	c.1484T>A	c.(1483-1485)cTc>cAc	p.L495H	UGT3A2_ENST00000545528.1_Missense_Mutation_p.L193H|UGT3A2_ENST00000513300.1_Missense_Mutation_p.L461H	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	495					cellular response to genistein (GO:0071412)	integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)|UDP-glycosyltransferase activity (GO:0008194)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCCCAGAGTGAGCCCCAGCAG	0.597																																																	0								ENSG00000168671						67.0	59.0	62.0					5																	36035888		2203	4300	6503	UGT3A2	SO:0001583	missense	0			-	HGNC		CCDS3914.1, CCDS54842.1	5p13.2	2014-05-20			ENSG00000168671	ENSG00000168671		"""UDP glucuronosyltransferases"""	27266	protein-coding gene	gene with protein product						12975309	Standard	NM_174914		Approved		uc003jjz.2	Q3SY77	OTTHUMG00000131108	ENST00000282507.3:c.1484T>A	5.37:g.36035888A>T	ENSP00000282507:p.Leu495His	Somatic	0	17	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	15	26	36.59	B4DUQ7|E9PFK7|Q6UXC4|Q8NBP2	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.L495H	ENST00000282507.3	37	c.1484	CCDS3914.1	5	.	.	.	.	.	.	.	.	.	.	A	9.320	1.057771	0.19907	.	.	ENSG00000168671	ENST00000282507;ENST00000513300;ENST00000545528	T;T;T	0.60797	0.16;0.16;0.16	2.74	2.74	0.32292	.	1.439330	0.05584	U	0.573498	T	0.71643	0.3364	M	0.75264	2.295	0.09310	N	1	D;D	0.76494	0.999;0.999	D;D	0.66716	0.946;0.946	T	0.52990	-0.8501	10	0.87932	D	0	.	3.1377	0.06444	0.6096:0.2542:0.1362:0.0	.	461;495	E9PFK7;Q3SY77	.;UD3A2_HUMAN	H	495;461;193	ENSP00000282507:L495H;ENSP00000427404:L461H;ENSP00000445367:L193H	ENSP00000282507:L495H	L	-	2	0	UGT3A2	36071645	0.364000	0.24997	0.412000	0.26496	0.148000	0.21650	0.907000	0.28531	1.492000	0.48499	0.460000	0.39030	CTC	-	pfam_UDP_glucos_trans		0.597	UGT3A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT3A2	protein_coding	OTTHUMT00000253771.2	A	NM_174914	-		36035888	-1	no_errors	ENST00000282507	ensembl	human	known	74_37	missense	SNP	0.019	T
LOR	4014	genome.wustl.edu	37	1	153233991	153233992	+	In_Frame_Ins	INS	-	-	CTCTGGCGGCGG	rs11272549|rs547333583|rs561634896	byFrequency	TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr1:153233991_153233992insCTCTGGCGGCGG	ENST00000368742.3	+	2	623_624	c.566_567insCTCTGGCGGCGG	c.(565-570)tactct>taCTCTGGCGGCGGctct	p.194_195insGGGS		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	194					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			gtctgcggctactctggcggcg	0.743														3247	0.648363	0.6664	0.7954	5008	,	,		5032	0.4563		0.7147	False		,,,				2504	0.6493																0								ENSG00000203782			178,190		86,6,92						-7.1	0.0		dbSNP_120	1	749,435		350,49,193	no	coding	LOR	NM_000427.2		436,55,285	A1A1,A1R,RR		36.7399,48.3696,40.2706				927,625				LOR	SO:0001652	inframe_insertion	0				HGNC	M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.567_578dupCTCTGGCGGCGG	1.37:g.153233991_153233992insCTCTGGCGGCGG	ENSP00000357731:p.Gly191_Ser194dup	Somatic	NA	NA	NA		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	Q5T869|Q5XKF8	In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	NULL	p.193in_frame_insGSGG	ENST00000368742.3	37	c.566_567	CCDS30870.1	1																																																																																			-	NULL		0.743	LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOR	protein_coding	OTTHUMT00000039107.1	-	NM_000427			153233992	+1	no_errors	ENST00000368742	ensembl	human	known	74_37	in_frame_ins	INS	0.014:0.200	CTCTGGCGGCGG
IGDCC3	9543	genome.wustl.edu	37	15	65621811	65621811	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr15:65621811C>A	ENST00000327987.4	-	13	2373	c.2122G>T	c.(2122-2124)Gac>Tac	p.D708Y	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	708					neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CGTTTCTCGTCTCGGCCCAGC	0.657																																																	0								ENSG00000174498						51.0	61.0	57.0					15																	65621811		2199	4293	6492	IGDCC3	SO:0001583	missense	0			-	HGNC	AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.2122G>T	15.37:g.65621811C>A	ENSP00000332773:p.Asp708Tyr	Somatic	0	60	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	31	50	38.27	O95215	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom	p.D708Y	ENST00000327987.4	37	c.2122	CCDS10205.1	15	.	.	.	.	.	.	.	.	.	.	C	9.482	1.098435	0.20552	.	.	ENSG00000174498	ENST00000327987	T	0.66638	-0.22	5.29	3.41	0.39046	.	0.491946	0.21418	N	0.074866	T	0.47619	0.1455	N	0.24115	0.695	0.09310	N	1	P	0.39624	0.681	B	0.37601	0.254	T	0.43180	-0.9407	10	0.59425	D	0.04	-4.9476	5.6062	0.17381	0.0:0.6802:0.0:0.3198	.	708	Q8IVU1	IGDC3_HUMAN	Y	708	ENSP00000332773:D708Y	ENSP00000332773:D708Y	D	-	1	0	IGDCC3	63408864	0.027000	0.19231	0.162000	0.22713	0.001000	0.01503	1.724000	0.38064	1.232000	0.43678	-0.137000	0.14449	GAC	-	NULL		0.657	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGDCC3	protein_coding	OTTHUMT00000256826.1	C	NM_004884	-		65621811	-1	no_errors	ENST00000327987	ensembl	human	known	74_37	missense	SNP	0.007	A
KIAA0355	9710	genome.wustl.edu	37	19	34819042	34819042	+	Missense_Mutation	SNP	C	C	G			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr19:34819042C>G	ENST00000299505.6	+	6	1963	c.1090C>G	c.(1090-1092)Ctg>Gtg	p.L364V		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	364										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CGCCGACAATCTGAAACTTAA	0.507																																																	0								ENSG00000166398						52.0	54.0	53.0					19																	34819042		2203	4300	6503	KIAA0355	SO:0001583	missense	0			-	HGNC		CCDS12436.1	19q13.12	2012-11-29			ENSG00000166398	ENSG00000166398			29016	protein-coding gene	gene with protein product						9205841	Standard	NM_014686		Approved		uc002nvd.4	O15063	OTTHUMG00000180505	ENST00000299505.6:c.1090C>G	19.37:g.34819042C>G	ENSP00000299505:p.Leu364Val	Somatic	0	30	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	49	15.52	Q2M3W4	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.L364V	ENST00000299505.6	37	c.1090	CCDS12436.1	19	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268133	0.80469	.	.	ENSG00000166398	ENST00000299505;ENST00000543188	.	.	.	5.55	4.52	0.55395	.	0.000000	0.64402	D	0.000002	T	0.60728	0.2291	N	0.14661	0.345	0.58432	D	0.999999	D	0.67145	0.996	D	0.75484	0.986	T	0.67952	-0.5537	9	0.87932	D	0	-33.3309	14.5447	0.68020	0.0:0.9296:0.0:0.0704	.	364	O15063	K0355_HUMAN	V	364;67	.	ENSP00000299505:L364V	L	+	1	2	KIAA0355	39510882	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.648000	0.61425	1.358000	0.45922	0.544000	0.68410	CTG	-	NULL		0.507	KIAA0355-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0355	protein_coding	OTTHUMT00000451678.4	C	NM_014686	-		34819042	+1	no_errors	ENST00000299505	ensembl	human	known	74_37	missense	SNP	1.000	G
FMNL2	114793	genome.wustl.edu	37	2	153475423	153475423	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr2:153475423G>A	ENST00000288670.9	+	14	1745	c.1378G>A	c.(1378-1380)Gaa>Aaa	p.E460K	FMNL2_ENST00000475377.2_5'Flank	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	460	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AGAAAAAGAAGAAGCAATTCA	0.363																																																	0								ENSG00000157827						47.0	45.0	46.0					2																	153475423		1845	4077	5922	FMNL2	SO:0001583	missense	0			-	HGNC	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.1378G>A	2.37:g.153475423G>A	ENSP00000288670:p.Glu460Lys	Somatic	0	50	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	58	17.14	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour	p.E460K	ENST00000288670.9	37	c.1378	CCDS46429.1	2	.	.	.	.	.	.	.	.	.	.	G	24.8	4.574492	0.86542	.	.	ENSG00000157827	ENST00000288670	T	0.36699	1.24	5.63	5.63	0.86233	.	0.092494	0.85682	D	0.000000	T	0.43634	0.1256	L	0.41961	1.31	0.80722	D	1	D	0.56968	0.978	P	0.50659	0.647	T	0.08126	-1.0737	10	0.27785	T	0.31	.	19.68	0.95958	0.0:0.0:1.0:0.0	.	460	Q96PY5-3	.	K	460	ENSP00000288670:E460K	ENSP00000288670:E460K	E	+	1	0	FMNL2	153183669	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.571000	0.82399	2.641000	0.89580	0.650000	0.86243	GAA	-	pfam_FH3_dom		0.363	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL2	protein_coding	OTTHUMT00000333582.2	G	NM_052905	-		153475423	+1	no_errors	ENST00000288670	ensembl	human	known	74_37	missense	SNP	1.000	A
FMNL2	114793	genome.wustl.edu	37	2	153475564	153475564	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr2:153475564G>A	ENST00000288670.9	+	14	1886	c.1519G>A	c.(1519-1521)Gaa>Aaa	p.E507K	FMNL2_ENST00000475377.2_5'Flank	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	507					cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CATGGGGTCAGAAGTGGTAGC	0.552																																																	0								ENSG00000157827						64.0	68.0	67.0					2																	153475564		1948	4143	6091	FMNL2	SO:0001583	missense	0			-	HGNC	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.1519G>A	2.37:g.153475564G>A	ENSP00000288670:p.Glu507Lys	Somatic	0	28	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	78	14.29	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour	p.E507K	ENST00000288670.9	37	c.1519	CCDS46429.1	2	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425964	0.43020	.	.	ENSG00000157827	ENST00000288670;ENST00000421344	D	0.90004	-2.6	5.57	5.57	0.84162	.	0.371852	0.32608	N	0.005862	T	0.80919	0.4716	N	0.19112	0.55	0.53005	D	0.999964	B	0.18310	0.027	B	0.16289	0.015	T	0.75766	-0.3202	10	0.06236	T	0.91	.	19.5452	0.95291	0.0:0.0:1.0:0.0	.	507	Q96PY5-3	.	K	507;4	ENSP00000288670:E507K	ENSP00000288670:E507K	E	+	1	0	FMNL2	153183810	1.000000	0.71417	0.045000	0.18777	0.048000	0.14542	9.114000	0.94329	2.612000	0.88384	0.650000	0.86243	GAA	-	prints_Wilms_tumour		0.552	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL2	protein_coding	OTTHUMT00000333582.2	G	NM_052905	-		153475564	+1	no_errors	ENST00000288670	ensembl	human	known	74_37	missense	SNP	0.085	A
CD86	942	genome.wustl.edu	37	3	121822505	121822505	+	Missense_Mutation	SNP	G	G	C			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr3:121822505G>C	ENST00000330540.2	+	3	327	c.211G>C	c.(211-213)Ggc>Cgc	p.G71R	CD86_ENST00000469710.1_5'UTR|CD86_ENST00000393627.2_Missense_Mutation_p.G65R|CD86_ENST00000264468.5_Intron|CD86_ENST00000493101.1_Intron	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	71	Ig-like V-type.				aging (GO:0007568)|B cell activation (GO:0042113)|cell-cell signaling (GO:0007267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to metal ion (GO:0071248)|defense response to virus (GO:0051607)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|immune response (GO:0006955)|innate immune response (GO:0045087)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of T cell anergy (GO:0002668)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cell proliferation (GO:0008284)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-4 biosynthetic process (GO:0045404)|positive regulation of lymphotoxin A biosynthetic process (GO:0043017)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription, DNA-templated (GO:0045893)|response to drug (GO:0042493)|response to interferon-gamma (GO:0034341)|response to yeast (GO:0001878)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)|T cell proliferation involved in immune response (GO:0002309)|toll-like receptor signaling pathway (GO:0002224)|viral process (GO:0016032)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)|receptor activity (GO:0004872)			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)|Antithymocyte globulin(DB00098)|Belatacept(DB06681)	GGTATACTTAGGCAAAGAGAA	0.433																																					GBM(67;1379 1389 36064 39806)												0								ENSG00000114013						142.0	142.0	142.0					3																	121822505		2203	4300	6503	CD86	SO:0001583	missense	0			-	HGNC		CCDS3009.1, CCDS43138.1, CCDS56272.1, CCDS56273.1, CCDS74991.1	3q21	2013-01-29	2006-03-28		ENSG00000114013	ENSG00000114013		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1705	protein-coding gene	gene with protein product	"""B-lymphocyte antigen B7-2"""	601020	"""CD86 antigen (CD28 antigen ligand 2, B7-2 antigen)"""	CD28LG2		7513726	Standard	NM_006889		Approved	B7.2, B7-2	uc003eet.3	P42081	OTTHUMG00000159482	ENST00000330540.2:c.211G>C	3.37:g.121822505G>C	ENSP00000332049:p.Gly71Arg	Somatic	0	74	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	49	30.00	A0N0P0|B7Z2F3|B7Z702|E7ETN5|E9PC27|Q13655|Q6FHB1|Q6GTS4|Q7M4L5	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.G71R	ENST00000330540.2	37	c.211	CCDS3009.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.25|17.25	3.340913|3.340913	0.60963|0.60963	.|.	.|.	ENSG00000114013|ENSG00000114013	ENST00000330540;ENST00000482356;ENST00000393627|ENST00000478741	T;T;T|.	0.64085|.	-0.08;-0.08;-0.08|.	5.54|5.54	5.54|5.54	0.83059|0.83059	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.64402|.	D|.	0.000013|.	T|T	0.80502|0.80502	0.4635|0.4635	M|M	0.88450|0.88450	2.955|2.955	0.80722|0.80722	D|D	1|1	D|.	0.89917|.	1.0|.	D|.	0.97110|.	1.0|.	T|T	0.82882|0.82882	-0.0237|-0.0237	10|5	0.87932|.	D|.	0|.	-21.6932|-21.6932	14.8575|14.8575	0.70351|0.70351	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	71|.	P42081|.	CD86_HUMAN|.	R|T	71;65;65|66	ENSP00000332049:G71R;ENSP00000419116:G65R;ENSP00000377248:G65R|.	ENSP00000332049:G71R|.	G|R	+|+	1|2	0|0	CD86|CD86	123305195|123305195	0.998000|0.998000	0.40836|0.40836	0.355000|0.355000	0.25773|0.25773	0.400000|0.400000	0.30750|0.30750	4.887000|4.887000	0.63156|0.63156	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GGC|AGG	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom		0.433	CD86-001	KNOWN	basic|CCDS	protein_coding	CD86	protein_coding	OTTHUMT00000355671.1	G	NM_006889	-		121822505	+1	no_errors	ENST00000330540	ensembl	human	known	74_37	missense	SNP	0.603	C
OTOA	146183	genome.wustl.edu	37	16	21702929	21702929	+	Silent	SNP	C	C	T	rs139292090		TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr16:21702929C>T	ENST00000286149.4	+	8	661	c.660C>T	c.(658-660)taC>taT	p.Y220Y	OTOA_ENST00000388958.3_Silent_p.Y220Y|OTOA_ENST00000388956.4_Silent_p.Y141Y			Q7RTW8	OTOAN_HUMAN	otoancorin	220					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		AAGATCTCTACGACAAAACCT	0.478													C|||	1	0.000199681	0.0	0.0	5008	,	,		20277	0.0		0.001	False		,,,				2504	0.0																0								ENSG00000155719	C	,	3,4395	6.2+/-15.9	0,3,2196	107.0	97.0	100.0		423,660	-10.5	0.1	16	dbSNP_134	100	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	OTOA	NM_001161683.1,NM_144672.3	,	0,5,6494	TT,TC,CC		0.0233,0.0682,0.0385	,	141/1061,220/1140	21702929	5,12993	2199	4300	6499	OTOA	SO:0001819	synonymous_variant	0			GMAF=0.0005	HGNC	AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.660C>T	16.37:g.21702929C>T		Somatic	0	54	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	22	51.11	A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Silent	SNP	NA	NA	NA	NA	NA	NA	NULL	p.Y220	ENST00000286149.4	37	c.660		16																																																																																			-	NULL		0.478	OTOA-003	KNOWN	basic	protein_coding	OTOA	protein_coding	OTTHUMT00000430021.1	C		rs139292090		21702929	+1	no_errors	ENST00000286149	ensembl	human	known	74_37	silent	SNP	0.567	T
SLC19A1	6573	genome.wustl.edu	37	21	46935022	46935022	+	3'UTR	SNP	A	A	G			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr21:46935022A>G	ENST00000311124.4	-	0	2478				SLC19A1_ENST00000468508.1_5'UTR|SLC19A1_ENST00000380010.4_Silent_p.H446H|SLC19A1_ENST00000567670.1_Intron	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1						folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	folic acid binding (GO:0005542)|folic acid transporter activity (GO:0008517)|methotrexate transporter activity (GO:0015350)			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)	Methotrexate(DB00563)|Pralatrexate(DB06813)	CCAACCTGAGATGGCTTTTCC	0.502																																																	0								ENSG00000173638																																			SLC19A1	SO:0001624	3_prime_UTR_variant	0			-	HGNC	U15939	CCDS13725.1, CCDS56217.1, CCDS56218.1	21q22.3	2013-05-22			ENSG00000173638	ENSG00000173638		"""Solute carriers"""	10937	protein-coding gene	gene with protein product		600424				9570943	Standard	NM_194255		Approved	FOLT	uc002zhl.2	P41440	OTTHUMG00000090397	ENST00000311124.4:c.*550T>C	21.37:g.46935022A>G		Somatic	0	18	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	29	27.50	B2R7U8|B7Z8C3|E9PFY4|O00553|O60227|Q13026|Q9BTX8	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier,tigrfam_Folate_carrier	p.H446	ENST00000311124.4	37	c.1338	CCDS13725.1	21																																																																																			-	pirsf_Folate_carrier		0.502	SLC19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC19A1	protein_coding	OTTHUMT00000206796.1	A		-		46935022	-1	no_errors	ENST00000380010	ensembl	human	putative	74_37	silent	SNP	0.000	G
HLA-DRB6	3128	genome.wustl.edu	37	6	32520830	32520844	+	RNA	DEL	AGGAGTCCAGCGCAG	AGGAGTCCAGCGCAG	-	rs373455550|rs66792445|rs71536524|rs200391463|rs144751271|rs1071763|rs371000848	byFrequency	TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	AGGAGTCCAGCGCAG	AGGAGTCCAGCGCAG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr6:32520830_32520844delAGGAGTCCAGCGCAG	ENST00000411500.1	-	0	880_894				RNU1-61P_ENST00000516107.1_RNA	NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		ACTTCAGCTCAGGAGTCCAGCGCAGGAGTCCTGCA	0.474																																																	0								ENSG00000229391																																			HLA-DRB6			0				HGNC	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32520830_32520844delAGGAGTCCAGCGCAG		Somatic	NA	NA	NA		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000411500.1	37	NULL		6																																																																																			-	-		0.474	HLA-DRB6-002	KNOWN	basic	processed_transcript	HLA-DRB6	pseudogene	OTTHUMT00000272900.1	AGGAGTCCAGCGCAG	NR_001298			32520844	-1	no_errors	ENST00000411500	ensembl	human	known	74_37	rna	DEL	0.975:0.991:0.996:0.997:0.995:0.988:0.985:0.943:0.810:0.673:0.530:0.488:0.478:0.468:0.458	-
CNTNAP3B	728577	genome.wustl.edu	37	9	43844193	43844193	+	Silent	SNP	G	G	A	rs199599712		TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr9:43844193G>A	ENST00000377564.3	+	10	1920	c.1527G>A	c.(1525-1527)ggG>ggA	p.G509G		NM_001201380.1	NP_001188309.1	Q96NU0	CNT3B_HUMAN	contactin associated protein-like 3B	509	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CCCTGGGAGGGTTTCAGGGCT	0.512																																																	0								ENSG00000154529																																			CNTNAP3B	SO:0001819	synonymous_variant	0			-	HGNC	BX538190	CCDS75836.1	9p12	2007-12-14			ENSG00000154529	ENSG00000154529			32035	protein-coding gene	gene with protein product						15820314	Standard	XM_006716853		Approved		uc004abr.1	Q96NU0	OTTHUMG00000013174	ENST00000377564.3:c.1527G>A	9.37:g.43844193G>A		Somatic	0	30	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	11	89	11.00	B1B0V7|B1B0V8|B1B0V9|B1B0W0|B1B0X8|B1B162|Q4VXF0|Q9H7W3	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.G509	ENST00000377564.3	37	c.1527	CCDS55312.1	9	.	.	.	.	.	.	.	.	.	.	g	6.455	0.452064	0.12283	.	.	ENSG00000154529	ENST00000377561	.	.	.	3.46	-6.92	0.01644	.	.	.	.	.	T	0.23649	0.0572	.	.	.	0.09310	P	0.999999858302	.	.	.	.	.	.	T	0.31364	-0.9946	4	0.87932	D	0	.	0.3865	0.00403	0.1991:0.2569:0.2484:0.2956	.	.	.	.	D	558	.	ENSP00000366784:G558D	G	+	2	0	CNTNAP3B	43784189	0.000000	0.05858	0.002000	0.10522	0.346000	0.29079	-2.927000	0.00690	-2.346000	0.00621	0.491000	0.48974	GGT	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.512	CNTNAP3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP3B	protein_coding	OTTHUMT00000036930.3	G		rs199599712		43844193	+1	no_errors	ENST00000377564	ensembl	human	known	74_37	silent	SNP	0.004	A
ZNF182	7569	genome.wustl.edu	37	X	47842772	47842772	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chrX:47842772G>T	ENST00000396965.1	-	5	462	c.112C>A	c.(112-114)Cag>Aag	p.Q38K	ZNF182_ENST00000305127.6_Missense_Mutation_p.Q38K|ZNF182_ENST00000376943.3_Missense_Mutation_p.Q19K	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	38	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|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)			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						CACTCCTCCTGGGTGAAATCC	0.453																																																	0								ENSG00000147118						117.0	100.0	106.0					X																	47842772		2203	4300	6503	ZNF182	SO:0001583	missense	0			-	HGNC	AK122874, R98366	CCDS35235.1, CCDS35236.1	Xp11.23	2013-01-08	2006-05-10	2006-05-10	ENSG00000147118	ENSG00000147118		"""Zinc fingers, C2H2-type"", ""-"""	13001	protein-coding gene	gene with protein product		314993	"""zinc finger protein 182 (HHZ150)"", ""zinc finger protein 21 (KOX 14)"""	ZNF21		8088786, 2014798, 8914609	Standard	NM_001178099		Approved	KOX14, HHZ150, Zfp182	uc004dit.3	P17025	OTTHUMG00000021460	ENST00000396965.1:c.112C>A	X.37:g.47842772G>T	ENSP00000380165:p.Gln38Lys	Somatic	0	70	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	62	27.91	A2IDD7|Q3KP67|Q96QH7	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q38K	ENST00000396965.1	37	c.112	CCDS35236.1	X	.	.	.	.	.	.	.	.	.	.	G	3.239	-0.155675	0.06544	.	.	ENSG00000147118	ENST00000376943;ENST00000396965;ENST00000305127	T;T;T	0.02085	4.46;4.46;4.46	3.84	0.867	0.19085	Krueppel-associated box (4);	.	.	.	.	T	0.02970	0.0088	M	0.75884	2.315	0.51767	D	0.999939	B;B;B	0.23185	0.081;0.053;0.0	B;B;B	0.26969	0.038;0.075;0.001	T	0.40478	-0.9561	9	0.20046	T	0.44	.	2.7249	0.05211	0.2339:0.0:0.3662:0.3999	.	19;19;38	B4DRM0;Q96QH7;P17025	.;.;ZN182_HUMAN	K	19;38;38	ENSP00000366142:Q19K;ENSP00000380165:Q38K;ENSP00000306351:Q38K	ENSP00000306351:Q38K	Q	-	1	0	ZNF182	47727716	0.002000	0.14202	0.857000	0.33713	0.554000	0.35429	-0.181000	0.09740	0.044000	0.15775	0.513000	0.50165	CAG	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.453	ZNF182-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF182	protein_coding	OTTHUMT00000277055.1	G	NM_006962	-		47842772	-1	no_errors	ENST00000305127	ensembl	human	known	74_37	missense	SNP	0.877	T
AGAP1	116987	genome.wustl.edu	37	2	236480576	236480577	+	Intron	INS	-	-	TGTGTGTGTG	rs141898525|rs371400174	byFrequency	TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr2:236480576_236480577insTGTGTGTGTG	ENST00000304032.8	+	1	743				AGAP1_ENST00000409457.1_Intron|AC012305.1_ENST00000408777.1_RNA|AGAP1_ENST00000336665.5_Intron	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1						protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGCCCACACTTtgtgtgtgtgt	0.441																																																	0								ENSG00000221704																																			AC012305.1	SO:0001627	intron_variant	0				Clone_based_ensembl_gene	AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.163+77083->TGTGTGTGTG	2.37:g.236480577_236480586dupTGTGTGTGTG		Somatic	NA	NA	NA		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	B2RTX7|Q541S5|Q6P9D7|Q9NV93	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000304032.8	37	NULL	CCDS33408.1	2																																																																																			-	-		0.441	AGAP1-001	KNOWN	basic|CCDS	protein_coding	ENSG00000221704	protein_coding	OTTHUMT00000257076.2	-	NM_014914			236480577	+1	no_errors	ENST00000408777	ensembl	human	novel	74_37	rna	INS	0.083:0.055	TGTGTGTGTG
MMP26	56547	genome.wustl.edu	37	11	5013310	5013310	+	Missense_Mutation	SNP	T	T	C			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr11:5013310T>C	ENST00000380390.1	+	6	928	c.712T>C	c.(712-714)Ttc>Ctc	p.F238L	MMP26_ENST00000300762.1_Missense_Mutation_p.F238L			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	238					collagen catabolic process (GO:0030574)|proteolysis (GO:0006508)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)	Marimastat(DB00786)	CCCTAGAACCTTCCAGCTCAG	0.488																																																	0								ENSG00000167346						87.0	77.0	80.0					11																	5013310		2201	4298	6499	MMP26	SO:0001583	missense	0			-	HGNC	AF230354	CCDS7752.1	11p15	2008-07-18	2005-08-08		ENSG00000167346	ENSG00000167346	3.4.24.1		14249	protein-coding gene	gene with protein product	"""matrilysin 2"""	605470	"""matrix metalloproteinase 26"""			10801841, 10824119	Standard	NM_021801		Approved	endometase, MGC126590, MGC126592	uc001lzv.3	Q9NRE1	OTTHUMG00000066442	ENST00000380390.1:c.712T>C	11.37:g.5013310T>C	ENSP00000369753:p.Phe238Leu	Somatic	0	35	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	9	32	21.95	Q3MJ78|Q9GZS2|Q9NR87	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Pept_M10_metallopeptidase,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,prints_Pept_M10A	p.F238L	ENST00000380390.1	37	c.712	CCDS7752.1	11	.	.	.	.	.	.	.	.	.	.	T	12.42	1.932776	0.34096	.	.	ENSG00000167346	ENST00000380390;ENST00000300762	T;T	0.50277	0.75;0.75	3.79	3.79	0.43588	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.47455	D	0.000228	T	0.63486	0.2515	M	0.66439	2.03	0.36492	D	0.86846	D	0.76494	0.999	D	0.79784	0.993	T	0.72354	-0.4319	10	0.87932	D	0	-10.5885	10.5334	0.44990	0.0:0.0:0.0:1.0	.	238	Q9NRE1	MMP26_HUMAN	L	238	ENSP00000369753:F238L;ENSP00000300762:F238L	ENSP00000300762:F238L	F	+	1	0	MMP26	4969886	0.995000	0.38212	0.598000	0.28837	0.210000	0.24377	5.489000	0.66875	1.587000	0.49959	0.459000	0.35465	TTC	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo		0.488	MMP26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP26	protein_coding	OTTHUMT00000142058.3	T	NM_021801	-		5013310	+1	no_errors	ENST00000300762	ensembl	human	known	74_37	missense	SNP	0.898	C
PIK3C2B	5287	genome.wustl.edu	37	1	204419217	204419218	+	Intron	INS	-	-	AGGCTG	rs61762615|rs371889705	byFrequency	TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr1:204419217_204419218insAGGCTG	ENST00000367187.3	-	14	2623				PIK3C2B_ENST00000424712.2_Intron	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta						phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein kinase B signaling (GO:0043491)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|lipid kinase activity (GO:0001727)|phosphatidylinositol binding (GO:0035091)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CCCAGGAAGTCAGGCTGAGGCT	0.579														84	0.0167732	0.0015	0.0202	5008	,	,		19362	0.0		0.0368	False		,,,				2504	0.0317																0								ENSG00000133056																																			PIK3C2B	SO:0001627	intron_variant	0				HGNC	Y11312	CCDS1446.1	1q32	2012-07-13	2012-07-13		ENSG00000133056	ENSG00000133056	2.7.1.154		8972	protein-coding gene	gene with protein product		602838	"""phosphoinositide-3-kinase, class 2, beta polypeptide"""			9144573, 9830063	Standard	NM_002646		Approved	C2-PI3K, PI3K-C2beta	uc001haw.3	O00750	OTTHUMG00000036101	ENST00000367187.3:c.2067-72->CAGCCT	1.37:g.204419218_204419223dupAGGCTG		Somatic	NA	NA	NA		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	O95666|Q5SW99	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000367187.3	37	NULL	CCDS1446.1	1																																																																																			-	-		0.579	PIK3C2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2B	protein_coding	OTTHUMT00000087965.1	-	NM_002646			204419218	-1	no_errors	ENST00000479079	ensembl	human	known	74_37	rna	INS	0.000:0.000	AGGCTG
ZIM2	23619	genome.wustl.edu	37	19	57301291	57301291	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr19:57301291delT	ENST00000391708.3	-	9	968	c.426delA	c.(424-426)gcafs	p.A142fs	ZIM2_ENST00000221722.5_Frame_Shift_Del_p.A142fs|AC006115.3_ENST00000595954.1_RNA|AC006115.3_ENST00000594400.1_RNA|ZIM2_ENST00000601070.1_Frame_Shift_Del_p.A142fs|ZIM2_ENST00000593711.1_Frame_Shift_Del_p.A142fs|ZIM2_ENST00000599935.1_Frame_Shift_Del_p.A142fs|AC006115.3_ENST00000597946.1_RNA	NM_001146326.1|NM_001146327.1	NP_001139798.1|NP_001139799.1	Q9NZV7	ZIM2_HUMAN	zinc finger, imprinted 2	142					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0314)		TCCTCTTTTCTGCAGGGACAG	0.498																																																	0								ENSG00000269699						74.0	62.0	66.0					19																	57301291		2203	4300	6503	ZIM2	SO:0001589	frameshift_variant	0				HGNC	AF166122	CCDS33123.1	19q13.4	2012-10-31				ENSG00000269699		"""Zinc fingers, C2H2-type"""	12875	protein-coding gene	gene with protein product							Standard	NM_015363		Approved	ZNF656		Q9NZV7		ENST00000391708.3:c.426delA	19.37:g.57301291delT	ENSP00000375589:p.Ala142fs	Somatic	0	37	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	16	76	17.39	Q2M3K1	Frame_Shift_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E143fs	ENST00000391708.3	37	c.426	CCDS33123.1	19																																																																																			-	NULL		0.498	ZIM2-202	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIM2	protein_coding	OTTHUMT00000416094.2	T				57301291	-1	no_errors	ENST00000221722	ensembl	human	known	74_37	frame_shift_del	DEL	0.000	-
FAM91A3P	729182	genome.wustl.edu	37	1	149261581	149261581	+	lincRNA	SNP	G	G	C	rs77998576	byFrequency	TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr1:149261581G>C	ENST00000325963.8	+	0	1128																											TGAAGAGCTTGAGCATAACAC	0.408																																																	0								ENSG00000223779																																			RP11-403I13.4			0			-	Clone_based_vega_gene																													1.37:g.149261581G>C		Somatic	0	27	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	25	16.67		RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000325963.8	37	NULL		1																																																																																			-	-		0.408	RP11-403I13.4-002	KNOWN	not_best_in_genome_evidence|basic	lincRNA	LOC100293748	lincRNA	OTTHUMT00000099551.1	G		rs77998576		149261581	+1	no_errors	ENST00000325963	ensembl	human	known	74_37	rna	SNP	1.000	C
TTC12	54970	genome.wustl.edu	37	11	113233190	113233190	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr11:113233190C>T	ENST00000529221.1	+	19	1787	c.1682C>T	c.(1681-1683)gCa>gTa	p.A561V	TTC12_ENST00000314756.3_Missense_Mutation_p.A561V|TTC12_ENST00000393020.1_Missense_Mutation_p.A561V|TTC12_ENST00000483239.2_Missense_Mutation_p.A567V	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	561										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		GCCTTGCGAGCAGGAGTGGTA	0.428																																																	0								ENSG00000149292						96.0	101.0	99.0					11																	113233190		2201	4296	6497	TTC12	SO:0001583	missense	0			-	HGNC	AK000542	CCDS8360.2	11q23.2	2013-01-10			ENSG00000149292	ENSG00000149292		"""Tetratricopeptide (TTC) repeat domain containing"""	23700	protein-coding gene	gene with protein product		610732				12964006	Standard	XM_005271607		Approved	FLJ13859, FLJ20535, TPARM	uc001pnu.3	Q9H892	OTTHUMG00000142832	ENST00000529221.1:c.1682C>T	11.37:g.113233190C>T	ENSP00000433757:p.Ala561Val	Somatic	0	54	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	42	8.70	Q8N5H9|Q9NWY3	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_TPR_1,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A561V	ENST00000529221.1	37	c.1682	CCDS8360.2	11	.	.	.	.	.	.	.	.	.	.	C	15.83	2.948468	0.53186	.	.	ENSG00000149292	ENST00000529221;ENST00000314756;ENST00000393020;ENST00000483239	T;T;T;T	0.51325	0.71;0.71;0.71;0.71	5.05	3.0	0.34707	Armadillo-like helical (1);Armadillo-type fold (1);	0.648629	0.16212	N	0.224450	T	0.55673	0.1935	M	0.70595	2.14	0.26551	N	0.973917	D;D	0.59357	0.985;0.985	P;P	0.53006	0.715;0.715	T	0.50118	-0.8865	10	0.66056	D	0.02	-5.4822	9.0641	0.36453	0.1459:0.4564:0.3977:0.0	.	561;561	A8K8G6;Q9H892	.;TTC12_HUMAN	V	561;561;561;567	ENSP00000433757:A561V;ENSP00000315160:A561V;ENSP00000376743:A561V;ENSP00000419652:A567V	ENSP00000315160:A561V	A	+	2	0	TTC12	112738400	0.031000	0.19500	0.830000	0.32933	0.306000	0.27790	1.022000	0.30052	1.231000	0.43661	0.655000	0.94253	GCA	-	superfamily_ARM-type_fold		0.428	TTC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC12	protein_coding	OTTHUMT00000286455.2	C	NM_017868	-		113233190	+1	no_errors	ENST00000314756	ensembl	human	known	74_37	missense	SNP	0.932	T
CPNE4	131034	genome.wustl.edu	37	3	131253882	131253883	+	3'UTR	INS	-	-	A	rs397761002|rs5852629	byFrequency	TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr3:131253882_131253883insA	ENST00000512055.1	-	0	3956_3957				CPNE4_ENST00000502818.1_3'UTR|CPNE4_ENST00000503204.1_5'UTR|CPNE4_ENST00000511604.1_3'UTR|CPNE4_ENST00000429747.1_3'UTR|CPNE4_ENST00000512332.1_3'UTR			Q96A23	CPNE4_HUMAN	copine IV							extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						GCTACACATGCAAAAAAAATTG	0.307													AAAAAAAA|AAAAAAAA|AAAAAAAAA|insertion	1293	0.258187	0.0741	0.4294	5008	,	,		17836	0.4544		0.1859	False		,,,				2504	0.2577																0								ENSG00000196353																																			CPNE4	SO:0001624	3_prime_UTR_variant	0				HGNC	H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.*157->T	3.37:g.131253890_131253890dupA		Somatic	0	10	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	11	54.17	D3DNC5|Q8TEX1	RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000512055.1	37	NULL	CCDS3072.1	3																																																																																			-	-		0.307	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE4	protein_coding	OTTHUMT00000356583.4	-	NM_130808			131253883	-1	no_errors	ENST00000503204	ensembl	human	known	74_37	rna	INS	1.000:1.000	A
GRHL2	79977	genome.wustl.edu	37	8	102570802	102570802	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr8:102570802C>T	ENST00000251808.3	+	4	778	c.440C>T	c.(439-441)tCt>tTt	p.S147F	GRHL2_ENST00000395927.1_Missense_Mutation_p.S131F	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	147					brain development (GO:0007420)|camera-type eye development (GO:0043010)|cardiac ventricle morphogenesis (GO:0003208)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digit morphogenesis (GO:0042733)|face development (GO:0060324)|in utero embryonic development (GO:0001701)|lung lobe morphogenesis (GO:0060463)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			CCCGAGAGCTCTGCCATCATC	0.527																																																	0								ENSG00000083307						119.0	115.0	117.0					8																	102570802		2203	4300	6503	GRHL2	SO:0001583	missense	0			-	HGNC	AK023844	CCDS34931.1	8q22.3	2008-02-05	2005-07-11	2005-07-11	ENSG00000083307	ENSG00000083307			2799	protein-coding gene	gene with protein product		608576	"""deafness, autosomal dominant 28"", ""transcription factor CP2-like 3"""	DFNA28, TFCP2L3		12393799	Standard	NM_024915		Approved	FLJ13782, BOM	uc010mbu.3	Q6ISB3	OTTHUMG00000149915	ENST00000251808.3:c.440C>T	8.37:g.102570802C>T	ENSP00000251808:p.Ser147Phe	Somatic	0	37	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	19	15	54.29	A1L303|Q6NT03|Q9H8B8	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_CP2	p.S147F	ENST00000251808.3	37	c.440	CCDS34931.1	8	.	.	.	.	.	.	.	.	.	.	C	13.09	2.131912	0.37630	.	.	ENSG00000083307	ENST00000251808;ENST00000395927;ENST00000395928	T;T	0.12361	2.69;2.7	5.1	5.1	0.69264	.	0.491341	0.22165	N	0.063727	T	0.17662	0.0424	L	0.29908	0.895	0.41607	D	0.988883	B;P	0.35944	0.412;0.529	B;B	0.42738	0.188;0.396	T	0.04537	-1.0944	10	0.56958	D	0.05	-2.2035	18.5219	0.90956	0.0:1.0:0.0:0.0	.	147;147	B4DL28;Q6ISB3	.;GRHL2_HUMAN	F	147;131;147	ENSP00000251808:S147F;ENSP00000379260:S131F	ENSP00000251808:S147F	S	+	2	0	GRHL2	102639978	0.994000	0.37717	0.786000	0.31890	0.142000	0.21351	6.648000	0.74359	2.366000	0.80165	0.637000	0.83480	TCT	-	NULL		0.527	GRHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRHL2	protein_coding	OTTHUMT00000313882.1	C	NM_024915	-		102570802	+1	no_errors	ENST00000251808	ensembl	human	known	74_37	missense	SNP	0.803	T
PCDHA7	56141	genome.wustl.edu	37	5	140214891	140214891	+	Missense_Mutation	SNP	T	T	A	rs565146954		TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr5:140214891T>A	ENST00000525929.1	+	1	923	c.923T>A	c.(922-924)aTg>aAg	p.M308K	PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.M308K|PCDHA5_ENST00000529859.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	308	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATAGGACATATGGATTTTGAA	0.453																																					NSCLC(160;258 2013 5070 22440 28951)												0								ENSG00000204963						73.0	66.0	68.0					5																	140214891		2202	4280	6482	PCDHA7	SO:0001583	missense	0			-	HGNC	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.923T>A	5.37:g.140214891T>A	ENSP00000436426:p.Met308Lys	Somatic	0	55	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	6	22	21.43	O75282	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.M308K	ENST00000525929.1	37	c.923	CCDS54918.1	5	.	.	.	.	.	.	.	.	.	.	T	11.11	1.540994	0.27563	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.51817	0.69;0.69	4.04	4.04	0.47022	Cadherin (4);Cadherin-like (1);	0.358244	0.15682	U	0.249876	T	0.53997	0.1831	L	0.46157	1.445	0.09310	N	1	B;B	0.32010	0.159;0.351	B;P	0.45971	0.024;0.499	T	0.55749	-0.8092	10	0.87932	D	0	.	13.2918	0.60274	0.0:0.0:0.0:1.0	.	308;308	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	K	308	ENSP00000436426:M308K;ENSP00000367365:M308K	ENSP00000367365:M308K	M	+	2	0	PCDHA7	140195075	0.982000	0.34865	0.024000	0.17045	0.660000	0.38997	7.958000	0.87877	1.592000	0.50018	0.254000	0.18369	ATG	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.453	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	protein_coding	OTTHUMT00000372887.2	T	NM_018910	-		140214891	+1	no_errors	ENST00000525929	ensembl	human	known	74_37	missense	SNP	0.079	A
RBM5	10181	genome.wustl.edu	37	3	50150739	50150739	+	Intron	DEL	T	T	-			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr3:50150739delT	ENST00000347869.3	+	18	1630				RP11-493K19.3_ENST00000437204.1_RNA|RBM5_ENST00000441812.2_Intron	NM_005778.3	NP_005769.1	P52756	RBM5_HUMAN	RNA binding motif protein 5						apoptotic process (GO:0006915)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|spliceosomal complex assembly (GO:0000245)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2)	19				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATACTTTATCTTTTTTTTGAC	0.368																																																	0								ENSG00000003756																																			RBM5	SO:0001627	intron_variant	0				HGNC	U23946	CCDS2810.1	3p21.3	2013-08-15			ENSG00000003756	ENSG00000003756		"""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9902	protein-coding gene	gene with protein product		606884				10352938, 23935508	Standard	NM_005778		Approved	LUCA15, H37	uc003cyg.3	P52756	OTTHUMG00000156785	ENST00000347869.3:c.1456-77T>-	3.37:g.50150739delT		Somatic	0	27	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	3	27	10.00	B2RA45|B4DM16|B4DMF9|B4DZ63|Q93021|Q9BU14|Q9HDA6|Q9UKY8|Q9UL24	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000347869.3	37	NULL	CCDS2810.1	3																																																																																			-	-		0.368	RBM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM5	protein_coding	OTTHUMT00000345797.3	T	NM_005778			50150739	+1	no_errors	ENST00000474470	ensembl	human	putative	74_37	rna	DEL	0.000	-
ABCA3	21	genome.wustl.edu	37	16	2329036	2329036	+	Silent	SNP	G	G	A			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr16:2329036G>A	ENST00000301732.5	-	29	5155	c.4455C>T	c.(4453-4455)ggC>ggT	p.G1485G	ABCA3_ENST00000382381.3_Silent_p.G1427G	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1485	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	alveolar lamellar body (GO:0097208)|alveolar lamellar body membrane (GO:0097233)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)			Imatinib(DB00619)	GCTCAGGGATGCCCCGGAGCC	0.652																																																	0								ENSG00000167972						62.0	64.0	63.0					16																	2329036		2198	4300	6498	ABCA3	SO:0001819	synonymous_variant	0			-	HGNC	U78735	CCDS10466.1	16p13.3	2012-03-14			ENSG00000167972	ENSG00000167972		"""ATP binding cassette transporters / subfamily A"""	33	protein-coding gene	gene with protein product		601615		ABC3		8706931	Standard	NM_001089		Approved	ABC-C, EST111653, LBM180	uc002cpy.1	Q99758	OTTHUMG00000128845	ENST00000301732.5:c.4455C>T	16.37:g.2329036G>A		Somatic	0	94	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	58	106	34.73	B2RU09|Q54A95|Q6P5P9|Q92473	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.G1485	ENST00000301732.5	37	c.4455	CCDS10466.1	16																																																																																			-	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.652	ABCA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA3	protein_coding	OTTHUMT00000250784.2	G	NM_001089	-		2329036	-1	no_errors	ENST00000301732	ensembl	human	known	74_37	silent	SNP	0.995	A
LOC101927016	101927016	genome.wustl.edu	37	13	64321006	64321065	+	In_Frame_Del	DEL	GGCTATGGCTATGGCTCCAGCTATGGCTGTGGCTATGGAACTGGCTACAGCTGTGGCTAT	GGCTATGGCTATGGCTCCAGCTATGGCTGTGGCTATGGAACTGGCTACAGCTGTGGCTAT	-	rs559210526|rs2810821|rs534427328	byFrequency	TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	GGCTATGGCTATGGCTCCAGCTATGGCTGTGGCTATGGAACTGGCTACAGCTGTGGCTAT	GGCTATGGCTATGGCTCCAGCTATGGCTGTGGCTATGGAACTGGCTACAGCTGTGGCTAT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr13:64321006_64321065delGGCTATGGCTATGGCTCCAGCTATGGCTGTGGCTATGGAACTGGCTACAGCTGTGGCTAT	ENST00000453638.2	+	1	73_132	c.73_132delGGCTATGGCTATGGCTCCAGCTATGGCTGTGGCTATGGAACTGGCTACAGCTGTGGCTAT	c.(73-132)ggctatggctatggctccagctatggctgtggctatggaactggctacagctgtggctatdel	p.GYGYGSSYGCGYGTGYSCGY25del	RP11-473M10.3_ENST00000418943.1_lincRNA																endometrium(2)|lung(1)|urinary_tract(1)	4						ctctggttatggctatggctatggctccagctatggctgtggctatggaactggctacagctgtggctatggctgtggct	0.538																																																	0								ENSG00000226974																																			AL445989.1	SO:0001651	inframe_deletion	0				Clone_based_ensembl_gene																												ENST00000453638.2:c.73_132delGGCTATGGCTATGGCTCCAGCTATGGCTGTGGCTATGGAACTGGCTACAGCTGTGGCTAT	13.37:g.64321006_64321065delGGCTATGGCTATGGCTCCAGCTATGGCTGTGGCTATGGAACTGGCTACAGCTGTGGCTAT	ENSP00000443634:p.Gly25_Tyr44del	Somatic	NA	NA	NA		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	NULL	p.YGYGSSYGCGYGTGYSCGYG26in_frame_del	ENST00000453638.2	37	c.73_132		13																																																																																			-	NULL		0.538	AL445989.1-201	KNOWN	basic|appris_principal	protein_coding	LOC101927016	protein_coding		GGCTATGGCTATGGCTCCAGCTATGGCTGTGGCTATGGAACTGGCTACAGCTGTGGCTAT				64321065	+1	no_errors	ENST00000453638	ensembl	human	known	74_37	in_frame_del	DEL	0.111:0.111:0.092:0.071:0.001:0.001:0.009:0.016:0.021:0.025:0.023:0.041:0.045:0.040:0.012:0.006:0.000:0.000:0.003:0.032:0.058:0.371:0.475:0.657:0.749:0.788:0.811:0.826:0.827:0.810:0.797:0.742:0.540:0.524:0.464:0.447:0.424:0.384:0.151:0.044:0.012:0.001:0.001:0.000:0.000:0.002:0.002:0.002:0.002:0.005:0.004:0.003:0.000:0.002:0.008:0.017:0.061:0.228:0.298:0.660	-
SH3PXD2B	285590	genome.wustl.edu	37	5	171866687	171866688	+	Intron	DEL	CA	CA	-	rs62387191|rs143250033|rs113620669|rs376203422		TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	CA	CA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr5:171866687_171866688delCA	ENST00000311601.5	-	1	246				AC011407.1_ENST00000401308.1_RNA|SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B						adipose tissue development (GO:0060612)|bone development (GO:0060348)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|eye development (GO:0001654)|heart development (GO:0007507)|podosome assembly (GO:0071800)|positive regulation of fat cell differentiation (GO:0045600)|protein localization to membrane (GO:0072657)|skeletal system development (GO:0001501)|superoxide metabolic process (GO:0006801)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|podosome (GO:0002102)	phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4-phosphate binding (GO:0070273)|phosphatidylinositol-5-phosphate binding (GO:0010314)|SH2 domain binding (GO:0042169)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGCGTGCGCGcacgcgcgcgca	0.53																																																	0								ENSG00000216127																																			AC011407.1	SO:0001627	intron_variant	0				Clone_based_ensembl_gene	AK095834	CCDS34291.1	5q35.2	2008-02-05	2006-02-13	2006-02-13	ENSG00000174705	ENSG00000174705			29242	protein-coding gene	gene with protein product		613293	"""KIAA1295"""	KIAA1295		10718198	Standard	NM_001017995		Approved	FLJ20831	uc003mbr.3	A1X283	OTTHUMG00000163280	ENST00000311601.5:c.75+14593TG>-	5.37:g.171866687_171866688delCA		Somatic	0	30	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	25	16.67	B6F0V2|Q9P2Q1	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000311601.5	37	NULL	CCDS34291.1	5																																																																																			-	-		0.530	SH3PXD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000216127	protein_coding	OTTHUMT00000372449.1	CA	NM_017963			171866688	-1	no_errors	ENST00000401308	ensembl	human	novel	74_37	rna	DEL	0.026:0.017	-
FMNL2	114793	genome.wustl.edu	37	2	153475623	153475623	+	Silent	SNP	G	G	A			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr2:153475623G>A	ENST00000288670.9	+	14	1945	c.1578G>A	c.(1576-1578)ttG>ttA	p.L526L	FMNL2_ENST00000475377.2_5'Flank	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	526	Pro-rich.				cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CAGGACCCTTGCCCCCTCCTC	0.542																																																	0								ENSG00000157827						45.0	48.0	47.0					2																	153475623		1965	4143	6108	FMNL2	SO:0001819	synonymous_variant	0			-	HGNC	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.1578G>A	2.37:g.153475623G>A		Somatic	0	30	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	23	114	16.79	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour	p.L526	ENST00000288670.9	37	c.1578	CCDS46429.1	2																																																																																			-	NULL		0.542	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL2	protein_coding	OTTHUMT00000333582.2	G	NM_052905	-		153475623	+1	no_errors	ENST00000288670	ensembl	human	known	74_37	silent	SNP	0.733	A
STRN4	29888	genome.wustl.edu	37	19	47225504	47225504	+	Missense_Mutation	SNP	C	C	A			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr19:47225504C>A	ENST00000263280.6	-	15	2049	c.2000G>T	c.(1999-2001)cGg>cTg	p.R667L	STRN4_ENST00000539396.1_Missense_Mutation_p.R548L|STRN4_ENST00000391910.3_Missense_Mutation_p.R674L|STRN4_ENST00000594357.2_5'Flank	NM_001039877.1|NM_013403.2	NP_001034966.1|NP_037535.2	Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	667						cell projection (GO:0042995)|cytoplasm (GO:0005737)|membrane (GO:0016020)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		CTCACCTGTCCGATTGTCCAG	0.617																																																	0								ENSG00000090372						118.0	99.0	105.0					19																	47225504		2203	4300	6503	STRN4	SO:0001583	missense	0			-	HGNC	AF212940	CCDS12690.1, CCDS42581.1	19q13.32	2013-01-10			ENSG00000090372	ENSG00000090372		"""WD repeat domain containing"""	15721	protein-coding gene	gene with protein product		614767				10748158	Standard	XM_006723171		Approved	zinedin, ZIN	uc002pfm.3	Q9NRL3		ENST00000263280.6:c.2000G>T	19.37:g.47225504C>A	ENSP00000263280:p.Arg667Leu	Somatic	0	29	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	5	53	8.47	A0A024R0V2|B4DQH7|F8VYA6|Q8NE53	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_WD40_repeat,pfam_Striatin_N,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R674L	ENST00000263280.6	37	c.2021	CCDS12690.1	19	.	.	.	.	.	.	.	.	.	.	.	19.18	3.778157	0.70107	.	.	ENSG00000090372	ENST00000391910;ENST00000263280;ENST00000539396	D;D;D	0.82081	-1.57;-1.57;-1.57	5.42	5.42	0.78866	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.276636	0.35585	N	0.003103	T	0.81659	0.4869	L	0.36672	1.1	0.80722	D	1	P;D	0.54207	0.947;0.965	P;P	0.52856	0.711;0.468	T	0.80605	-0.1308	10	0.39692	T	0.17	-26.5831	11.486	0.50354	0.0:0.9164:0.0:0.0836	.	674;667	F8VYA6;Q9NRL3	.;STRN4_HUMAN	L	674;667;548	ENSP00000375777:R674L;ENSP00000263280:R667L;ENSP00000440901:R548L	ENSP00000263280:R667L	R	-	2	0	STRN4	51917344	0.993000	0.37304	1.000000	0.80357	0.992000	0.81027	2.332000	0.43903	2.539000	0.85634	0.561000	0.74099	CGG	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.617	STRN4-001	KNOWN	NMD_exception|basic|appris_candidate|CCDS	protein_coding	STRN4	protein_coding	OTTHUMT00000466607.2	C		-		47225504	-1	no_errors	ENST00000391910	ensembl	human	known	74_37	missense	SNP	1.000	A
TTLL11	158135	genome.wustl.edu	37	9	124855330	124855331	+	In_Frame_Ins	INS	-	-	TGGCCT	rs3833704|rs201653732	byFrequency	TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr9:124855330_124855331insTGGCCT	ENST00000373776.3	-	1	554_555	c.367_368insAGGCCA	c.(367-369)aca>aAGGCCAca	p.122_123insKA	TTLL11_ENST00000474723.1_5'UTR|TTLL11_ENST00000321582.5_In_Frame_Ins_p.122_123insKA	NM_194252.2	NP_919228.2	Q8NHH1	TTL11_HUMAN	tubulin tyrosine ligase-like family, member 11	122					cellular protein modification process (GO:0006464)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	ligase activity (GO:0016874)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						cgtctccgctgtggcctcggcc	0.762														678	0.135383	0.1044	0.1254	5008	,	,		10384	0.0367		0.2773	False		,,,				2504	0.1401																0								ENSG00000175764		,	363,1875		124,115,880					,	-4.8	0.0		dbSNP_107	2	1330,3776		463,404,1686	no	coding,coding	TTLL11	NM_194252.2,NM_001139442.1	,	587,519,2566	A1A1,A1R,RR		26.0478,16.2198,23.0528	,	,		1693,5651				TTLL11	SO:0001652	inframe_insertion	0				HGNC	AF521886	CCDS6834.2, CCDS48012.1	9q34.11	2013-02-14	2005-07-28	2005-07-28	ENSG00000175764	ENSG00000175764		"""Tubulin tyrosine ligase-like family"""	18113	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 20"""	C9orf20		15890843	Standard	NM_001139442		Approved	bA244O19.1	uc011lyl.2	Q8NHH1	OTTHUMG00000020597	ENST00000373776.3:c.362_367dupAGGCCA	9.37:g.124855331_124855336dupTGGCCT	ENSP00000362881:p.Ala122_Thr123insLysAla	Somatic	NA	NA	NA		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		In_Frame_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_TTL/TTLL_fam	p.123in_frame_insKA	ENST00000373776.3	37	c.368_367	CCDS6834.2	9																																																																																			-	NULL		0.762	TTLL11-004	KNOWN	basic|CCDS	protein_coding	TTLL11	protein_coding	OTTHUMT00000053907.1	-	XM_088486			124855331	-1	no_errors	ENST00000321582	ensembl	human	known	74_37	in_frame_ins	INS	0.000:0.000	TGGCCT
TOE1	114034	genome.wustl.edu	37	1	45808994	45808994	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr1:45808994G>T	ENST00000372090.5	+	8	1736	c.1153G>T	c.(1153-1155)Gct>Tct	p.A385S	MUTYH_ENST00000372110.3_5'Flank|MUTYH_ENST00000372098.3_5'Flank|TOE1_ENST00000495703.1_3'UTR|TESK2_ENST00000486676.1_5'Flank|TOE1_ENST00000539779.1_Missense_Mutation_p.A305S|MUTYH_ENST00000529984.1_5'Flank|MUTYH_ENST00000528332.2_5'Flank|MUTYH_ENST00000450313.1_5'Flank|MUTYH_ENST00000372115.3_5'Flank	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	385						nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					GCAGGAGGTGGCTGCCGATGA	0.532																																																	0								ENSG00000132773						88.0	94.0	92.0					1																	45808994		2203	4300	6503	TOE1	SO:0001583	missense	0			-	HGNC		CCDS521.1	1p33	2011-02-03			ENSG00000132773	ENSG00000132773			15954	protein-coding gene	gene with protein product		613931				12562764	Standard	NM_025077		Approved		uc009vxq.3	Q96GM8	OTTHUMG00000007678	ENST00000372090.5:c.1153G>T	1.37:g.45808994G>T	ENSP00000361162:p.Ala385Ser	Somatic	0	44	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	45	8.16	B4DEM6|Q6IA35|Q8IWN5|Q9H846	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_RNase_CAF1,pfam_Znf_CCCH,superfamily_RNaseH-like_dom	p.A385S	ENST00000372090.5	37	c.1153	CCDS521.1	1	.	.	.	.	.	.	.	.	.	.	G	1.842	-0.467205	0.04476	.	.	ENSG00000132773	ENST00000372090;ENST00000539779	T;T	0.31510	1.49;1.52	5.66	1.73	0.24493	.	0.823699	0.11464	N	0.561422	T	0.18130	0.0435	N	0.22421	0.69	0.09310	N	0.999999	B;B	0.27910	0.005;0.193	B;B	0.34536	0.007;0.185	T	0.35351	-0.9792	10	0.18276	T	0.48	0.1245	2.5324	0.04706	0.207:0.2434:0.4336:0.1159	.	305;385	B4DEM6;Q96GM8	.;TOE1_HUMAN	S	385;305	ENSP00000361162:A385S;ENSP00000438900:A305S	ENSP00000361162:A385S	A	+	1	0	TOE1	45581581	0.000000	0.05858	0.646000	0.29493	0.115000	0.19883	0.287000	0.18920	0.141000	0.18875	0.655000	0.94253	GCT	-	pfam_RNase_CAF1		0.532	TOE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOE1	protein_coding	OTTHUMT00000020517.1	G	NM_025077	-		45808994	+1	no_errors	ENST00000372090	ensembl	human	known	74_37	missense	SNP	0.017	T
CDK5RAP3	80279	genome.wustl.edu	37	17	46053334	46053334	+	Silent	SNP	A	A	G	rs202125432	byFrequency	TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr17:46053334A>G	ENST00000338399.4	+	8	859	c.753A>G	c.(751-753)gaA>gaG	p.E251E	CDK5RAP3_ENST00000536708.2_Silent_p.E276E|RP11-6N17.9_ENST00000582262.1_RNA	NM_176096.1	NP_788276.1	Q96JB5	CK5P3_HUMAN	CDK5 regulatory subunit associated protein 3	251					brain development (GO:0007420)|protein ufmylation (GO:0071569)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of neuron differentiation (GO:0045664)	membrane (GO:0016020)	protein kinase binding (GO:0019901)	p.E251E(1)		NS(1)|central_nervous_system(2)|cervix(3)|endometrium(3)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	18						CTGTGGTGGAACGACCCCACC	0.602																																																	1	Substitution - coding silent(1)	prostate(1)						ENSG00000108465																																			CDK5RAP3	SO:0001819	synonymous_variant	0			-	HGNC	AF110322	CCDS42356.1, CCDS62232.1	17q21.2	2008-07-18				ENSG00000108465			18673	protein-coding gene	gene with protein product	"""ischemic heart CDK5 activator-binding protein C53"", ""LXXLL/leucine-zipper-containing ARFbinding protein"""	608202				10721722	Standard	NM_176096		Approved	MST016, FLJ13660, C53, IC53, HSF-27, OK/SW-cl.114, LZAP	uc010wlc.3	Q96JB5		ENST00000338399.4:c.753A>G	17.37:g.46053334A>G		Somatic	0	48	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	8	61	11.59	B7Z6N4|D3DTU1|D3DTU2|F5H3I5|Q53FA2|Q9H3F8|Q9H8G0|Q9HBR9	Silent	SNP	NA	NA	NA	NA	NA	NA	pfam_DUF773	p.E251	ENST00000338399.4	37	c.753	CCDS42356.1	17																																																																																			-	pfam_DUF773		0.602	CDK5RAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK5RAP3	protein_coding	OTTHUMT00000442913.1	A	NM_176096	rs202125432		46053334	+1	no_errors	ENST00000338399	ensembl	human	known	74_37	silent	SNP	1.000	G
MYH6	4624	genome.wustl.edu	37	14	23853824	23853824	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr14:23853824G>A	ENST00000356287.3	-	35	5421	c.5392C>T	c.(5392-5394)Cgg>Tgg	p.R1798W	MYH6_ENST00000405093.3_Missense_Mutation_p.R1798W			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1798					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCGTCCAGCCGGTGCTGCAGG	0.632																																																	0								ENSG00000197616						76.0	76.0	76.0					14																	23853824		2203	4300	6503	MYH6	SO:0001583	missense	0			-	HGNC	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.5392C>T	14.37:g.23853824G>A	ENSP00000348634:p.Arg1798Trp	Somatic	0	33	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	35	58	37.63	A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R1798W	ENST00000356287.3	37	c.5392	CCDS9600.1	14	.	.	.	.	.	.	.	.	.	.	g	20.2	3.951639	0.73787	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	D;D	0.82711	-1.64;-1.64	4.82	3.92	0.45320	Myosin tail (1);	.	.	.	.	D	0.93769	0.8008	H	0.96996	3.92	0.53688	D	0.999979	D	0.89917	1.0	D	0.97110	1.0	D	0.95323	0.8422	9	0.87932	D	0	.	13.9069	0.63841	0.0:0.0:0.7244:0.2756	.	1798	P13533	MYH6_HUMAN	W	1798	ENSP00000386041:R1798W;ENSP00000348634:R1798W	ENSP00000348634:R1798W	R	-	1	2	MYH6	22923664	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.974000	0.56852	1.148000	0.42385	0.561000	0.74099	CGG	-	pfam_Myosin_tail		0.632	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH6	protein_coding	OTTHUMT00000071796.3	G		-		23853824	-1	no_errors	ENST00000356287	ensembl	human	known	74_37	missense	SNP	1.000	A
POT1	25913	genome.wustl.edu	37	7	124493077	124493077	+	Missense_Mutation	SNP	C	C	T			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr7:124493077C>T	ENST00000357628.3	-	10	1416	c.818G>A	c.(817-819)cGg>cAg	p.R273Q	POT1_ENST00000393329.1_Missense_Mutation_p.R142Q	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	273	DNA binding.		R -> L (in CMM10; complete abolition of POT1-DNA complex formation, thus disrupting the interaction with telomeres and leading to elongated telomeres). {ECO:0000269|PubMed:24686849}.		DNA duplex unwinding (GO:0032508)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of DNA strand elongation (GO:0060383)|positive regulation of helicase activity (GO:0051096)|positive regulation of telomerase activity (GO:0051973)|positive regulation of telomere maintenance via telomerase (GO:0032212)|telomere capping (GO:0016233)|telomere formation via telomerase (GO:0032203)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear telomere cap complex (GO:0000783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DEAD/H-box RNA helicase binding (GO:0017151)|single-stranded telomeric DNA binding (GO:0043047)|telomerase inhibitor activity (GO:0010521)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						CCTGATTCCCCGACCGTAACT	0.363																																					Esophageal Squamous(149;1032 1141 16047 36610 40540 42429 44687 51642)												0								ENSG00000128513						114.0	108.0	110.0					7																	124493077		2203	4300	6503	POT1	SO:0001583	missense	0			-	HGNC	AK022580	CCDS5793.1	7q31.33	2013-01-21	2013-01-21		ENSG00000128513	ENSG00000128513			17284	protein-coding gene	gene with protein product		606478	"""protection of telomeres 1 homolog (S. pombe)"""			11349150, 12391173	Standard	NR_003102		Approved	hPot1, DKFZp586D211	uc003vlm.3	Q9NUX5	OTTHUMG00000157194	ENST00000357628.3:c.818G>A	7.37:g.124493077C>T	ENSP00000350249:p.Arg273Gln	Somatic	0	108	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	12	67	15.19	O95018|Q5MJ36|Q9H662|Q9NW19|Q9UG95	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Telomer_end-bd_POT1/Cdc13,superfamily_NA-bd_OB-fold,smart_Telomer_end-bd_POT1/Cdc13	p.R273Q	ENST00000357628.3	37	c.818	CCDS5793.1	7	.	.	.	.	.	.	.	.	.	.	C	34	5.355751	0.95854	.	.	ENSG00000128513	ENST00000357628;ENST00000393329;ENST00000451720;ENST00000440969;ENST00000393326;ENST00000265391	T;T	0.73469	-0.23;-0.75	6.07	6.07	0.98685	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	D	0.86928	0.6051	M	0.79475	2.455	0.58432	D	0.999993	D	0.89917	1.0	D	0.83275	0.996	D	0.87081	0.2166	10	0.66056	D	0.02	-12.026	18.1532	0.89682	0.0:1.0:0.0:0.0	.	273	Q9NUX5	POTE1_HUMAN	Q	273;142;273;273;273;272	ENSP00000350249:R273Q;ENSP00000377002:R142Q	ENSP00000265391:R272Q	R	-	2	0	POT1	124280313	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.800000	0.62524	2.885000	0.99019	0.655000	0.94253	CGG	-	superfamily_NA-bd_OB-fold		0.363	POT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POT1	protein_coding	OTTHUMT00000347861.1	C		-		124493077	-1	no_errors	ENST00000357628	ensembl	human	known	74_37	missense	SNP	1.000	T
WNK3	65267	genome.wustl.edu	37	X	54319436	54319436	+	Missense_Mutation	SNP	A	A	T			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chrX:54319436A>T	ENST00000375159.2	-	9	1921	c.1922T>A	c.(1921-1923)aTt>aAt	p.I641N	WNK3_ENST00000375169.3_Missense_Mutation_p.I641N|WNK3_ENST00000354646.2_Missense_Mutation_p.I641N			Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	641					intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of ion transmembrane transporter activity (GO:0032414)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of rubidium ion transmembrane transporter activity (GO:2000688)|positive regulation of rubidium ion transport (GO:2000682)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	adherens junction (GO:0005912)|cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CAAAGGCAAAATCTGCGGCTG	0.393																																																	0								ENSG00000196632						91.0	78.0	82.0					X																	54319436		2203	4300	6503	WNK3	SO:0001583	missense	0			-	HGNC	AJ409088	CCDS14357.1, CCDS35302.1	Xp11.22	2008-05-14	2005-01-19	2005-01-22	ENSG00000196632	ENSG00000196632			14543	protein-coding gene	gene with protein product		300358	"""protein kinase, lysine deficient 3"""	PRKWNK3			Standard	NM_020922		Approved		uc004dtc.2	Q9BYP7	OTTHUMG00000021626	ENST00000375159.2:c.1922T>A	X.37:g.54319436A>T	ENSP00000364301:p.Ile641Asn	Somatic	0	113	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	13	74	14.94	B1AKG2|Q5JRC1|Q6JP76|Q8TCX6|Q9HCK6	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.I641N	ENST00000375159.2	37	c.1922	CCDS14357.1	X	.	.	.	.	.	.	.	.	.	.	A	3.268	-0.149630	0.06585	.	.	ENSG00000196632	ENST00000375169;ENST00000354646;ENST00000375159	T;T;T	0.70516	-0.46;-0.49;-0.49	5.45	2.98	0.34508	.	0.485871	0.18860	N	0.129180	T	0.48960	0.1529	N	0.24115	0.695	0.18873	N	0.999983	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.24977	-1.0145	10	0.19147	T	0.46	-0.2663	3.9896	0.09532	0.6988:0.0:0.1014:0.1998	.	641;641	Q9BYP7-3;Q9BYP7	.;WNK3_HUMAN	N	641	ENSP00000364312:I641N;ENSP00000346667:I641N;ENSP00000364301:I641N	ENSP00000346667:I641N	I	-	2	0	WNK3	54336161	0.598000	0.26882	0.314000	0.25224	0.865000	0.49528	1.250000	0.32850	0.273000	0.22049	0.451000	0.29950	ATT	-	NULL		0.393	WNK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WNK3	protein_coding	OTTHUMT00000056799.2	A	NM_020922	-		54319436	-1	no_errors	ENST00000354646	ensembl	human	known	74_37	missense	SNP	0.410	T
FHDC1	85462	genome.wustl.edu	37	4	153875437	153875437	+	Missense_Mutation	SNP	G	G	A	rs371895499		TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr4:153875437G>A	ENST00000511601.1	+	4	817	c.629G>A	c.(628-630)cGa>cAa	p.R210Q	FHDC1_ENST00000260008.3_Missense_Mutation_p.R210Q			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	210	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.								ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GAGACCTTGCGAGAATTTCTT	0.363																																																	0								ENSG00000137460	G	GLN/ARG	0,4406		0,0,2203	104.0	109.0	108.0		629	5.0	0.7	4		108	1,8599	1.2+/-3.3	0,1,4299	no	missense	FHDC1	NM_033393.2	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	210/1144	153875437	1,13005	2203	4300	6503	FHDC1	SO:0001583	missense	0			-	HGNC	AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.629G>A	4.37:g.153875437G>A	ENSP00000427567:p.Arg210Gln	Somatic	0	28	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	24	3	88.89		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_FH2_Formin,smart_FH2_Formin	p.R210Q	ENST00000511601.1	37	c.629	CCDS34081.1	4	.	.	.	.	.	.	.	.	.	.	G	17.53	3.412856	0.62511	0.0	1.16E-4	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.62788	0.0;0.0	5.86	5.02	0.67125	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.297635	0.33457	N	0.004898	T	0.58032	0.2094	L	0.39020	1.185	0.27235	N	0.959307	D	0.56746	0.977	P	0.50405	0.64	T	0.52749	-0.8534	10	0.32370	T	0.25	.	10.4163	0.44325	0.2039:0.0:0.7961:0.0	.	210	Q9C0D6	FHDC1_HUMAN	Q	210	ENSP00000427567:R210Q;ENSP00000260008:R210Q	ENSP00000260008:R210Q	R	+	2	0	FHDC1	154094887	0.996000	0.38824	0.709000	0.30452	0.682000	0.39822	1.194000	0.32174	1.499000	0.48617	0.650000	0.86243	CGA	-	pfam_FH2_Formin,smart_FH2_Formin		0.363	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHDC1	protein_coding	OTTHUMT00000364981.2	G	NM_033393	-		153875437	+1	no_errors	ENST00000260008	ensembl	human	known	74_37	missense	SNP	0.960	A
CABP2	51475	genome.wustl.edu	37	11	67288529	67288529	+	Missense_Mutation	SNP	C	C	T	rs140767804	byFrequency	TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr11:67288529C>T	ENST00000294288.4	-	4	415	c.346G>A	c.(346-348)Gag>Aag	p.E116K	CABP2_ENST00000353903.5_Missense_Mutation_p.E59K	NM_016366.2	NP_057450.2	Q9NPB3	CABP2_HUMAN	calcium binding protein 2	116	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				signal transduction (GO:0007165)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						AGCTCCATCTCGGTGGGCATG	0.627																																																	0								ENSG00000167791	C	LYS/GLU	2,4398	4.2+/-10.8	0,2,2198	152.0	144.0	147.0		346	4.4	1.0	11	dbSNP_134	147	0,8590		0,0,4295	yes	missense	CABP2	NM_016366.2	56	0,2,6493	TT,TC,CC		0.0,0.0455,0.0154	probably-damaging	116/221	67288529	2,12988	2200	4295	6495	CABP2	SO:0001583	missense	0			-	HGNC	AF169154	CCDS8170.1	11q13.1	2013-01-10			ENSG00000167791	ENSG00000167791		"""EF-hand domain containing"""	1385	protein-coding gene	gene with protein product		607314				10625670	Standard	NM_016366		Approved		uc001omc.1	Q9NPB3	OTTHUMG00000168014	ENST00000294288.4:c.346G>A	11.37:g.67288529C>T	ENSP00000294288:p.Glu116Lys	Somatic	0	35	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	25	25	50.00		Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom	p.E116K	ENST00000294288.4	37	c.346	CCDS8170.1	11	.	.	.	.	.	.	.	.	.	.	C	35	5.436028	0.96168	4.55E-4	0.0	ENSG00000167791	ENST00000353903;ENST00000294288	T;T	0.08370	3.1;3.1	4.4	4.4	0.53042	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.26629	0.0651	L	0.61218	1.895	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.989;0.998	T	0.01053	-1.1467	10	0.72032	D	0.01	-29.9606	16.0747	0.80960	0.0:1.0:0.0:0.0	.	122;59;116	F1T0K2;Q9NPB3-2;Q9NPB3	.;.;CABP2_HUMAN	K	59;116	ENSP00000312037:E59K;ENSP00000294288:E116K	ENSP00000294288:E116K	E	-	1	0	CABP2	67045105	1.000000	0.71417	0.985000	0.45067	0.987000	0.75469	7.543000	0.82106	2.445000	0.82738	0.455000	0.32223	GAG	-	NULL		0.627	CABP2-002	KNOWN	basic|CCDS	protein_coding	CABP2	protein_coding	OTTHUMT00000397516.1	C		rs140767804		67288529	-1	no_errors	ENST00000294288	ensembl	human	known	74_37	missense	SNP	1.000	T
RNF219	79596	genome.wustl.edu	37	13	79219033	79219033	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr13:79219033G>T	ENST00000282003.6	-	2	230	c.172C>A	c.(172-174)Ccc>Acc	p.P58T		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	58							zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GGAGTGATGGGGACTCTGCAA	0.363																																																	0								ENSG00000152193						132.0	127.0	129.0					13																	79219033		2203	4300	6503	RNF219	SO:0001583	missense	0			-	HGNC	BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.172C>A	13.37:g.79219033G>T	ENSP00000282003:p.Pro58Thr	Somatic	0	74	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	46	8.00	B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfscan_Znf_RING	p.P58T	ENST00000282003.6	37	c.172	CCDS31997.1	13	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446416	0.63178	.	.	ENSG00000152193	ENST00000282003	T	0.18338	2.22	5.33	4.43	0.53597	Zinc finger, RING/FYVE/PHD-type (1);	0.118962	0.56097	D	0.000021	T	0.20981	0.0505	N	0.19112	0.55	0.43133	D	0.994872	D	0.65815	0.995	P	0.55112	0.769	T	0.02365	-1.1170	10	0.48119	T	0.1	-7.8383	15.4612	0.75359	0.0:0.1388:0.8612:0.0	.	58	Q5W0B1	RN219_HUMAN	T	58	ENSP00000282003:P58T	ENSP00000282003:P58T	P	-	1	0	RNF219	78117034	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.793000	0.62474	2.489000	0.83994	0.655000	0.94253	CCC	-	NULL		0.363	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF219	protein_coding	OTTHUMT00000045363.1	G	NM_024546	-		79219033	-1	no_errors	ENST00000282003	ensembl	human	known	74_37	missense	SNP	1.000	T
FMNL2	114793	genome.wustl.edu	37	2	153475589	153475589	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr2:153475589G>A	ENST00000288670.9	+	14	1911	c.1544G>A	c.(1543-1545)gGa>gAa	p.G515E	FMNL2_ENST00000475377.2_5'Flank	NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	515					cortical actin cytoskeleton organization (GO:0030866)|cytoskeleton organization (GO:0007010)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)				central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AACTCTGTGGGACCCACAATG	0.557																																																	0								ENSG00000157827						58.0	61.0	60.0					2																	153475589		1953	4138	6091	FMNL2	SO:0001583	missense	0			-	HGNC	AB067489	CCDS46429.1	2q23.3	2008-02-05	2003-12-02	2003-12-03	ENSG00000157827	ENSG00000157827			18267	protein-coding gene	gene with protein product			"""formin homology 2 domain containing 2"""	FHOD2			Standard	XM_005246263		Approved	KIAA1902	uc002tye.3	Q96PY5	OTTHUMG00000154035	ENST00000288670.9:c.1544G>A	2.37:g.153475589G>A	ENSP00000288670:p.Gly515Glu	Somatic	0	32	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	17	107	13.71	B2RZH5|Q14CC9|Q4ZG52|Q8N3E0	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin,prints_Wilms_tumour	p.G515E	ENST00000288670.9	37	c.1544	CCDS46429.1	2	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446730	0.63178	.	.	ENSG00000157827	ENST00000288670;ENST00000421344	T	0.20738	2.05	5.34	5.34	0.76211	.	0.530504	0.18732	N	0.132716	T	0.16981	0.0408	N	0.19112	0.55	0.80722	D	1	D	0.53619	0.961	P	0.48189	0.57	T	0.01432	-1.1356	10	0.02654	T	1	.	15.6493	0.77078	0.0:0.1469:0.8531:0.0	.	515	Q96PY5-3	.	E	515;12	ENSP00000288670:G515E	ENSP00000288670:G515E	G	+	2	0	FMNL2	153183835	1.000000	0.71417	0.834000	0.33040	0.128000	0.20619	5.793000	0.69060	2.497000	0.84241	0.650000	0.86243	GGA	-	prints_Wilms_tumour		0.557	FMNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMNL2	protein_coding	OTTHUMT00000333582.2	G	NM_052905	-		153475589	+1	no_errors	ENST00000288670	ensembl	human	known	74_37	missense	SNP	0.991	A
IRF5	3663	genome.wustl.edu	37	7	128587352	128587381	+	In_Frame_Del	DEL	ACTCTGCAGCCGCCCACTCTGCGGCCGCCT	ACTCTGCAGCCGCCCACTCTGCGGCCGCCT	-	rs199508964|rs113806178|rs60344245|rs566635242|rs202130620|rs375983447|rs534043449|rs79724471	byFrequency	TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	ACTCTGCAGCCGCCCACTCTGCGGCCGCCT	ACTCTGCAGCCGCCCACTCTGCGGCCGCCT					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr7:128587352_128587381delACTCTGCAGCCGCCCACTCTGCGGCCGCCT	ENST00000402030.2	+	6	574_603	c.502_531delACTCTGCAGCCGCCCACTCTGCGGCCGCCT	c.(502-531)actctgcagccgcccactctgcggccgcctdel	p.TLQPPTLRPP168del	IRF5_ENST00000249375.4_In_Frame_Del_p.TLQPPTLRPP168del|IRF5_ENST00000477535.1_Intron|IRF5_ENST00000357234.5_In_Frame_Del_p.TLQPPTLRPP184del|IRF5_ENST00000473745.1_In_Frame_Del_p.TLQPPTLRPP168del	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	168					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of apoptotic process (GO:0043065)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.?(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						GTGGCCGCCCACTCTGCAGCCGCCCACTCTGCGGCCGCCTACTCTGCAGC	0.652														2428	0.484824	0.534	0.366	5008	,	,		17245	0.4425		0.5338	False		,,,				2504	0.4959																1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)						ENSG00000128604		,,,,	1942,1932		603,736,598					,,,,	0.1	0.9		dbSNP_129	14	3856,4082		1083,1690,1196	no	coding,intron,coding,coding,coding	IRF5	NM_032643.3,NM_001242452.1,NM_001098630.1,NM_001098629.1,NM_001098627.2	,,,,	1686,2426,1794	A1A1,A1R,RR		48.5765,49.8709,49.0857	,,,,	,,,,		5798,6014				IRF5	SO:0001651	inframe_deletion	0				HGNC		CCDS5808.1, CCDS43645.1, CCDS56512.1	7q32	2008-07-18			ENSG00000128604	ENSG00000128604			6120	protein-coding gene	gene with protein product		607218					Standard	XM_005250317		Approved		uc003vog.3	Q13568	OTTHUMG00000158410	ENST00000402030.2:c.502_531delACTCTGCAGCCGCCCACTCTGCGGCCGCCT	7.37:g.128587352_128587381delACTCTGCAGCCGCCCACTCTGCGGCCGCCT	ENSP00000385352:p.Thr168_Pro177del	Somatic	NA	NA	NA		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	A4D1J8|A8DUA8|A8DUA9|E7EQ16|E7EW54|Q1A7B4|Q64GA9|Q64GB1|Q64GB2|Q6RCM8|Q9BQF0	In_Frame_Del	DEL	NA	NA	NA	NA	NA	NA	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.PPTLRPPTLQ187in_frame_del	ENST00000402030.2	37	c.550_579	CCDS5808.1	7																																																																																			-	NULL		0.652	IRF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF5	protein_coding	OTTHUMT00000350934.1	ACTCTGCAGCCGCCCACTCTGCGGCCGCCT	NM_001098627			128587381	+1	no_errors	ENST00000357234	ensembl	human	known	74_37	in_frame_del	DEL	0.766:0.707:0.638:0.562:0.538:0.511:0.480:0.444:0.402:0.360:0.317:0.273:0.262:0.251:0.239:0.226:0.213:0.199:0.185:0.170:0.155:0.138:0.122:0.120:0.118:0.116:0.113:0.110:0.107:0.104	-
CHRM2	1129	genome.wustl.edu	37	7	136700328	136700328	+	Missense_Mutation	SNP	G	G	A			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr7:136700328G>A	ENST00000445907.2	+	3	1244	c.716G>A	c.(715-717)aGg>aAg	p.R239K	hsa-mir-490_ENST00000593789.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.R239K|CHRM2_ENST00000401861.1_Missense_Mutation_p.R239K|hsa-mir-490_ENST00000597642.1_RNA|CHRM2_ENST00000402486.3_Missense_Mutation_p.R239K|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.R239K|CHRM2_ENST00000397608.3_Missense_Mutation_p.R239K|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000425981.2_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	239					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	GTACAAGGAAGGATAGTGAAG	0.502																																																	0								ENSG00000181072						52.0	50.0	50.0					7																	136700328		2203	4300	6503	CHRM2	SO:0001583	missense	0			-	HGNC		CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.716G>A	7.37:g.136700328G>A	ENSP00000399745:p.Arg239Lys	Somatic	0	24	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	10	30	25.00	Q4VBK6|Q9P1X9	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn	p.R239K	ENST00000445907.2	37	c.716	CCDS5843.1	7	.	.	.	.	.	.	.	.	.	.	G	0.972	-0.699735	0.03279	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17;0.17	5.4	2.64	0.31445	GPCR, rhodopsin-like superfamily (1);	0.436404	0.27139	N	0.020744	T	0.31796	0.0808	N	0.16903	0.455	0.22591	N	0.998957	B	0.02656	0.0	B	0.04013	0.001	T	0.26916	-1.0089	10	0.02654	T	1	-3.3293	7.564	0.27868	0.4607:0.0:0.5393:0.0	.	239	P08172	ACM2_HUMAN	K	239	ENSP00000399745:R239K;ENSP00000415386:R239K;ENSP00000319984:R239K;ENSP00000380733:R239K;ENSP00000384937:R239K;ENSP00000384401:R239K	ENSP00000319984:R239K	R	+	2	0	CHRM2	136350868	1.000000	0.71417	0.994000	0.49952	0.986000	0.74619	1.017000	0.29989	0.278000	0.22164	0.655000	0.94253	AGG	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt		0.502	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM2	protein_coding	OTTHUMT00000341010.1	G		-		136700328	+1	no_errors	ENST00000320658	ensembl	human	known	74_37	missense	SNP	0.862	A
CADM3	57863	genome.wustl.edu	37	1	159170734	159170734	+	3'UTR	SNP	G	G	A			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr1:159170734G>A	ENST00000368125.4	+	0	1376				DARC_ENST00000537147.1_5'Flank|CTA-134P22.2_ENST00000415675.2_RNA|CADM3_ENST00000497636.1_3'UTR|CTA-134P22.2_ENST00000609696.1_RNA|CADM3_ENST00000368124.4_3'UTR	NM_001127173.1	NP_001120645.1	Q8N126	CADM3_HUMAN	cell adhesion molecule 3						adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|protein localization (GO:0008104)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					CACTTCCTGCGCCCCCCAGGG	0.662																																																	0								ENSG00000225670						33.0	35.0	34.0					1																	159170734		2203	4300	6503	CTA-134P22.2	SO:0001624	3_prime_UTR_variant	0			-	Clone_based_vega_gene	AY046418	CCDS1182.1, CCDS44251.1	1q21.2-q22	2013-01-29	2007-02-07	2007-02-07	ENSG00000162706	ENSG00000162706		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17601	protein-coding gene	gene with protein product	"""nectin-like 1"""	609743	"""immunoglobulin superfamily, member 4B"""	IGSF4B		11536053	Standard	NM_021189		Approved	BIgR, FLJ10698, TSLL1, NECL1, SynCAM3, Necl-1	uc001ftk.2	Q8N126	OTTHUMG00000037177	ENST00000368125.4:c.*22G>A	1.37:g.159170734G>A		Somatic	0	49	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	22	42	34.38	Q8IZQ9|Q9NVJ5|Q9UJP1	RNA	SNP	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000368125.4	37	NULL	CCDS44251.1	1																																																																																			-	-		0.662	CADM3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LOC100131825	protein_coding	OTTHUMT00000090330.1	G	NM_021189	-		159170734	-1	no_errors	ENST00000415675	ensembl	human	known	74_37	rna	SNP	0.123	A
SLC25A5	292	genome.wustl.edu	37	X	118603706	118603707	+	Frame_Shift_Ins	INS	-	-	G	rs113356560		TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chrX:118603706_118603707insG	ENST00000317881.8	+	2	310_311	c.194_195insG	c.(193-198)cagggafs	p.QG65fs	SLC25A5_ENST00000460013.1_3'UTR|SLC25A5-AS1_ENST00000446986.1_RNA	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	65					adenine transport (GO:0015853)|chromosome segregation (GO:0007059)|energy reserve metabolic process (GO:0006112)|negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901029)|positive regulation of cell proliferation (GO:0008284)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|MMXD complex (GO:0071817)|nucleus (GO:0005634)	adenine transmembrane transporter activity (GO:0015207)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	CCCAAGGAGCAGGGAGTTCTGT	0.49																																																	0								ENSG00000005022																																			SLC25A5	SO:0001589	frameshift_variant	0				HGNC	BC068199	CCDS14578.1	Xq24	2013-08-09			ENSG00000005022	ENSG00000005022		"""Solute carriers"""	10991	protein-coding gene	gene with protein product		300150		ANT2		2168878, 2829183	Standard	NM_001152		Approved	T2, 2F1, T3	uc004erh.4	P05141	OTTHUMG00000022715	ENST00000317881.8:c.197dupG	X.37:g.118603709_118603709dupG	ENSP00000360671:p.Gln65fs	Somatic	0	40	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	4	30	11.76	B2RCV1|O43350	Frame_Shift_Ins	INS	NA	NA	NA	NA	NA	NA	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor	p.V67fs	ENST00000317881.8	37	c.194_195	CCDS14578.1	X																																																																																			-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Aden_trnslctor		0.490	SLC25A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A5	protein_coding	OTTHUMT00000058952.2	-	NM_001152			118603707	+1	no_errors	ENST00000317881	ensembl	human	known	74_37	frame_shift_ins	INS	1.000:1.000	G
FAM47C	442444	genome.wustl.edu	37	X	37026524	37026524	+	Missense_Mutation	SNP	G	G	T			TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chrX:37026524G>T	ENST00000358047.3	+	1	93	c.41G>T	c.(40-42)gGc>gTc	p.G14V		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	14										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGTTCCCCGGGCATGGACTCC	0.657																																																	0								ENSG00000198173						22.0	21.0	21.0					X																	37026524		2202	4300	6502	FAM47C	SO:0001583	missense	0			-	HGNC	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.41G>T	X.37:g.37026524G>T	ENSP00000367913:p.Gly14Val	Somatic	0	76	0.00		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	21	107	16.41	Q6ZU46	Missense_Mutation	SNP	NA	NA	NA	NA	NA	NA	NULL	p.G14V	ENST00000358047.3	37	c.41	CCDS35227.1	X	.	.	.	.	.	.	.	.	.	.	G	11.16	1.558254	0.27827	.	.	ENSG00000198173	ENST00000358047	T	0.25250	1.81	0.462	0.462	0.16695	.	.	.	.	.	T	0.48223	0.1488	M	0.80183	2.485	0.09310	N	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.23404	-1.0189	8	0.72032	D	0.01	.	.	.	.	.	14	Q5HY64	FA47C_HUMAN	V	14	ENSP00000367913:G14V	ENSP00000367913:G14V	G	+	2	0	FAM47C	36936445	0.166000	0.22962	0.042000	0.18584	0.123000	0.20343	0.766000	0.26560	0.475000	0.27415	0.287000	0.19450	GGC	-	NULL		0.657	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	protein_coding	OTTHUMT00000060508.1	G	NM_001013736	-		37026524	+1	no_errors	ENST00000358047	ensembl	human	known	74_37	missense	SNP	0.039	T
UCHL3	7347	genome.wustl.edu	37	13	76123902	76123916	+	5'Flank	DEL	GGCGGCGGCGGCGAA	GGCGGCGGCGGCGAA	-	rs149695719|rs8192737		TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	GGCGGCGGCGGCGAA	GGCGGCGGCGGCGAA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr13:76123902_76123916delGGCGGCGGCGGCGAA	ENST00000377595.3	+	0	0				COMMD6_ENST00000460675.1_5'Flank|RP11-29G8.3_ENST00000563635.1_RNA	NM_001270952.1|NM_006002.4	NP_001257881.1|NP_005993.1	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)						protein catabolic process (GO:0030163)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|ubiquitin binding (GO:0043130)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(2)|lung(3)|skin(1)	7				GBM - Glioblastoma multiforme(99;0.0125)		GggcggaagcggcggcggcggcgaaggcggcggcT	0.716											OREG0022446	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								ENSG00000261553			1023,1059		430,163,448						2.7	1.0		dbSNP_130	3	614,4334		166,282,2026	no	near-gene-5				596,445,2474	A1A1,A1R,RR		12.4091,49.1354,23.2859				1637,5393				RP11-29G8.3	SO:0001631	upstream_gene_variant	0				Clone_based_vega_gene	M30496	CCDS9453.1, CCDS73586.1	13q21.33	2008-02-05			ENSG00000118939	ENSG00000118939	3.2.1.15		12515	protein-coding gene	gene with protein product		603090				2530630	Standard	NM_001270952		Approved		uc001vjq.4	P15374	OTTHUMG00000017090		13.37:g.76123902_76123916delGGCGGCGGCGGCGAA	Exception_encountered	Somatic	NA	NA	NA	1165	0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA	B2R970|Q5TBK8|Q6IBE9	RNA	DEL	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000377595.3	37	NULL	CCDS9453.1	13																																																																																			-	-		0.716	UCHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000261553	protein_coding	OTTHUMT00000045292.2	GGCGGCGGCGGCGAA	NM_006002			76123916	+1	no_errors	ENST00000563635	ensembl	human	known	74_37	rna	DEL	0.972:0.982:0.960:0.622:0.506:0.040:0.014:0.013:0.030:0.026:0.014:0.007:0.004:0.000:0.000	-
LOC642361	642361	genome.wustl.edu	37	10	81586763	81586764	+	lincRNA	INS	-	-	TCGCCTCGCC	rs376141844|rs564141310|rs57348880	byFrequency	TCGA-DX-AB2F-01A-11D-A387-09	TCGA-DX-AB2F-10A-01D-A38A-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dbf015e-3809-436e-b7c4-d2b40266bd0f	b9ce481f-768d-40b6-aa4a-b571e5069c27	g.chr10:81586763_81586764insTCGCCTCGCC	ENST00000605920.1	+	0	1106_1107				RP11-773D16.1_ENST00000495430.1_lincRNA	NR_029407.1|NR_029408.1																						CCTCGCTCACGTCGCCTCGCCT	0.708														3577	0.714257	0.5431	0.732	5008	,	,		8252	0.8155		0.8698	False		,,,				2504	0.6687																0								ENSG00000272447																																			RP11-182L21.6			0				Clone_based_vega_gene																													10.37:g.81586764_81586773dupTCGCCTCGCC		Somatic	NA	NA	NA		0.6269557062799781	NA	NA	NA	WXS	Illumina HiSeq 2500	Phase_IV	tier1	NA	NA	NA		RNA	INS	NA	NA	NA	NA	NA	NA	-	NULL	ENST00000605920.1	37	NULL		10																																																																																			-	-		0.708	RP11-182L21.6-001	KNOWN	basic	lincRNA	LOC642361	lincRNA	OTTHUMT00000470940.1	-				81586764	+1	no_errors	ENST00000605920	ensembl	human	known	74_37	rna	INS	0.302:0.319	TCGCCTCGCC
