#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_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
ACSM2A	123876	genome.wustl.edu	37	16	20481025	20481025	+	Missense_Mutation	SNP	T	T	A			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr16:20481025T>A	ENST00000573854.1	+	4	694	c.580T>A	c.(580-582)Ttc>Atc	p.F194I	ACSM2A_ENST00000417235.2_Missense_Mutation_p.F115I|ACSM2A_ENST00000424070.1_Missense_Mutation_p.F194I|ACSM2A_ENST00000219054.6_Missense_Mutation_p.F194I|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000575690.1_Missense_Mutation_p.F194I|ACSM2A_ENST00000396104.2_Missense_Mutation_p.F194I|ACSM2A_ENST00000536134.1_5'UTR	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	194					fatty acid metabolic process (GO:0006631)|glucose homeostasis (GO:0042593)|medium-chain fatty-acyl-CoA metabolic process (GO:0036112)|triglyceride homeostasis (GO:0070328)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GTGGCTGAACTTCAAGAAACT	0.438																																																	0													227.0	215.0	219.0					16																	20481025		2203	4300	6503	SO:0001583	missense	123876			AK091878, AK096039	CCDS32401.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000183747	ENSG00000183747		"""Acyl-CoA synthetase family"""	32017	protein-coding gene	gene with protein product		614358	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2			Standard	NM_001010845		Approved	A-923A4.1, MGC150530	uc010bwe.3	Q08AH3	OTTHUMG00000177401	ENST00000573854.1:c.580T>A	16.37:g.20481025T>A	ENSP00000459451:p.Phe194Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KTT9|O75202	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.F194I	ENST00000573854.1	37	c.580	CCDS32401.1	16	.	.	.	.	.	.	.	.	.	.	T	16.43	3.121860	0.56613	.	.	ENSG00000183747	ENST00000417235;ENST00000219054;ENST00000424070;ENST00000396104	T;T;T;T	0.50813	0.73;0.73;1.53;0.73	4.04	4.04	0.47022	AMP-dependent synthetase/ligase (1);	0.000000	0.46758	D	0.000279	T	0.61173	0.2326	M	0.70275	2.135	0.34002	D	0.650451	P;D	0.55385	0.885;0.971	P;P	0.58013	0.53;0.831	T	0.75164	-0.3414	10	0.72032	D	0.01	-18.5986	11.9917	0.53180	0.0:0.0:0.0:1.0	.	115;194	B7Z8R0;Q08AH3	.;ACS2A_HUMAN	I	115;194;194;194	ENSP00000392169:F115I;ENSP00000219054:F194I;ENSP00000394904:F194I;ENSP00000379411:F194I	ENSP00000219054:F194I	F	+	1	0	ACSM2A	20388526	1.000000	0.71417	0.989000	0.46669	0.619000	0.37552	2.542000	0.45744	1.472000	0.48140	0.248000	0.18094	TTC	ACSM2A	-	pfam_AMP-dep_Synth/Lig		0.438	ACSM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2A	HGNC	protein_coding	OTTHUMT00000436764.1	T	NM_001010845		20481025	+1	no_errors	ENST00000219054	ensembl	human	known	70_37	missense	SNP	1.000	A
ADAR	103	genome.wustl.edu	37	1	154574963	154574963	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr1:154574963G>A	ENST00000368474.4	-	2	354	c.155C>T	c.(154-156)cCa>cTa	p.P52L	ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000471068.1_5'UTR|ADAR_ENST00000292205.5_Missense_Mutation_p.P95L	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	52					adenosine to inosine editing (GO:0006382)|base conversion or substitution editing (GO:0016553)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|miRNA loading onto RISC involved in gene silencing by miRNA (GO:0035280)|mRNA modification (GO:0016556)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein kinase activity by regulation of protein phosphorylation (GO:0044387)|negative regulation of viral genome replication (GO:0045071)|positive regulation of viral genome replication (GO:0045070)|pre-miRNA processing (GO:0031054)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	DNA binding (GO:0003677)|double-stranded RNA adenosine deaminase activity (GO:0003726)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CGGTGCTTCTGGGAGCTGCCC	0.562																																																	0													57.0	54.0	55.0					1																	154574963		2203	4300	6503	SO:0001583	missense	103			BC038227	CCDS1071.1, CCDS30879.1	1q21.3	2012-03-22			ENSG00000160710	ENSG00000160710	3.5.4.-		225	protein-coding gene	gene with protein product		146920	"""interferon-induced protein 4"""	IFI4, G1P1		7972084	Standard	NM_001111		Approved	ADAR1	uc001ffh.3	P55265	OTTHUMG00000037261	ENST00000368474.4:c.155C>T	1.37:g.154574963G>A	ENSP00000357459:p.Pro52Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AQQ9|B1AQR0|D3DV76|O15223|O43859|O43860|Q9BYM3|Q9BYM4	Missense_Mutation	SNP	pfam_A_deamin,pfam_dsRNA_A_deaminase,pfam_Ds-RNA-bd,smart_dsRNA_A_deaminase,smart_Ds-RNA-bd,smart_A_deamin,pfscan_Ds-RNA-bd,pfscan_dsRNA_A_deaminase,pfscan_A_deamin	p.P95L	ENST00000368474.4	37	c.284	CCDS1071.1	1	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527534	0.44969	.	.	ENSG00000160710	ENST00000292205;ENST00000368474;ENST00000529168	T;T;T	0.11930	2.73;2.75;2.75	4.56	3.64	0.41730	.	1.472720	0.03602	N	0.233601	T	0.06280	0.0162	L	0.34521	1.04	0.26162	N	0.979982	P;B;B;P	0.50066	0.639;0.011;0.005;0.931	B;B;B;B	0.41571	0.155;0.009;0.006;0.36	T	0.13415	-1.0510	10	0.45353	T	0.12	-2.2191	11.378	0.49739	0.0909:0.0:0.9091:0.0	.	52;52;52;52	A2IBT1;P55265-3;P55265-2;P55265	.;.;.;DSRAD_HUMAN	L	95;52;47	ENSP00000292205:P95L;ENSP00000357459:P52L;ENSP00000431794:P47L	ENSP00000292205:P95L	P	-	2	0	ADAR	152841587	0.025000	0.19082	0.384000	0.26145	0.034000	0.12701	2.072000	0.41510	2.509000	0.84616	0.561000	0.74099	CCA	ADAR	-	NULL		0.562	ADAR-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ADAR	HGNC	protein_coding	OTTHUMT00000090691.2	G	NM_001111		154574963	-1	no_errors	ENST00000292205	ensembl	human	known	70_37	missense	SNP	0.268	A
AFF1	4299	genome.wustl.edu	37	4	88036015	88036015	+	Missense_Mutation	SNP	A	A	G	rs377041113		TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr4:88036015A>G	ENST00000307808.6	+	11	2429	c.2009A>G	c.(2008-2010)aAg>aGg	p.K670R	AFF1_ENST00000544085.1_Missense_Mutation_p.K308R|AFF1_ENST00000395146.4_Missense_Mutation_p.K677R	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	670					positive regulation of transcription, DNA-templated (GO:0045893)	transcription elongation factor complex (GO:0008023)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		AGTGAGAAGAAGAAGCACAAG	0.602																																																	0													45.0	54.0	51.0					4																	88036015		2203	4300	6503	SO:0001583	missense	4299			L22179	CCDS3616.1, CCDS54775.1	4q21.3	2009-08-04	2005-06-27	2005-06-27	ENSG00000172493	ENSG00000172493			7135	protein-coding gene	gene with protein product		159557	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 2"", ""pre-B-cell monocytic leukemia partner 1"""	PBM1, MLLT2		7689231, 1423625, 8353274	Standard	NM_005935		Approved	AF-4, AF4	uc011ccz.2	P51825	OTTHUMG00000130603	ENST00000307808.6:c.2009A>G	4.37:g.88036015A>G	ENSP00000305689:p.Lys670Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DTU1|E9PBM3	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.K677R	ENST00000307808.6	37	c.2030	CCDS3616.1	4	.	.	.	.	.	.	.	.	.	.	A	15.33	2.801472	0.50315	.	.	ENSG00000172493	ENST00000395146;ENST00000541943;ENST00000307808;ENST00000544085	T;T;T	0.63580	-0.05;-0.05;-0.05	5.95	4.78	0.61160	.	0.260619	0.38663	N	0.001610	T	0.43299	0.1241	N	0.12746	0.255	0.37391	D	0.912442	B;B;B	0.24258	0.1;0.1;0.1	B;B;B	0.26094	0.066;0.066;0.066	T	0.40813	-0.9543	10	0.29301	T	0.29	-11.1465	11.2297	0.48905	0.9278:0.0:0.0722:0.0	.	677;670;670	E9PBM3;Q14C88;P51825	.;.;AFF1_HUMAN	R	677;329;670;308	ENSP00000378578:K677R;ENSP00000305689:K670R;ENSP00000440843:K308R	ENSP00000305689:K670R	K	+	2	0	AFF1	88255039	1.000000	0.71417	0.976000	0.42696	0.968000	0.65278	1.587000	0.36622	1.092000	0.41356	0.402000	0.26972	AAG	AFF1	-	pfam_TF_AF4/FMR2		0.602	AFF1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	AFF1	HGNC	protein_coding	OTTHUMT00000253053.3	A	NM_005935		88036015	+1	no_errors	ENST00000395146	ensembl	human	known	70_37	missense	SNP	0.995	G
ARHGAP27	201176	genome.wustl.edu	37	17	43482441	43482441	+	Nonsense_Mutation	SNP	G	G	T			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr17:43482441G>T	ENST00000428638.1	-	3	1096	c.1097C>A	c.(1096-1098)tCg>tAg	p.S366*	ARHGAP27_ENST00000442348.1_Nonsense_Mutation_p.S366*|ARHGAP27_ENST00000376922.2_Nonsense_Mutation_p.S25*|ARHGAP27_ENST00000528384.1_Nonsense_Mutation_p.S25*|ARHGAP27_ENST00000582826.1_5'Flank|ARHGAP27_ENST00000532038.1_Nonsense_Mutation_p.S166*|ARHGAP27_ENST00000455881.1_Nonsense_Mutation_p.S25*|ARHGAP27_ENST00000532891.2_Nonsense_Mutation_p.S366*			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	366					positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					ACTGGTCAGCGACTCGGGGTA	0.642																																																	0													34.0	37.0	36.0					17																	43482441		2203	4300	6503	SO:0001587	stop_gained	201176			AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	31813	protein-coding gene	gene with protein product		610591	"""SH3 domain containing 20"""	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.1097C>A	17.37:g.43482441G>T	ENSP00000403323:p.Ser366*	Somatic		WXS	Illumina HiSeq	Phase_IV	A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_WW_Rsp5_WWP,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom	p.S366*	ENST00000428638.1	37	c.1097		17	.	.	.	.	.	.	.	.	.	.	G	20.5	4.003134	0.74932	.	.	ENSG00000159314	ENST00000532038;ENST00000376922;ENST00000528384;ENST00000532891;ENST00000428638;ENST00000442348;ENST00000455881;ENST00000528677	.	.	.	5.15	-8.09	0.01090	.	2.046220	0.02243	N	0.065972	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.2165	0.43170	0.3135:0.0:0.5779:0.1086	.	.	.	.	X	166;25;25;366;366;366;25;109	.	ENSP00000366121:S25X	S	-	2	0	ARHGAP27	40838224	0.000000	0.05858	0.000000	0.03702	0.752000	0.42762	-0.515000	0.06290	-1.199000	0.02666	-0.355000	0.07637	TCG	ARHGAP27	-	NULL		0.642	ARHGAP27-202	KNOWN	basic	protein_coding	ARHGAP27	HGNC	protein_coding		G	NM_199282		43482441	-1	no_errors	ENST00000428638	ensembl	human	known	70_37	nonsense	SNP	0.000	T
ARHGEF28	64283	genome.wustl.edu	37	5	73236812	73236812	+	Missense_Mutation	SNP	G	G	C			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr5:73236812G>C	ENST00000426542.2	+	35	5112	c.5092G>C	c.(5092-5094)Gcc>Ccc	p.A1698P	ARHGEF28_ENST00000437974.1_Missense_Mutation_p.A1724P|ARHGEF28_ENST00000296799.4_Missense_Mutation_p.A1385P|ARHGEF28_ENST00000512883.1_Missense_Mutation_p.A644P|ARHGEF28_ENST00000513042.2_Missense_Mutation_p.A1698P|ARHGEF28_ENST00000287898.5_Missense_Mutation_p.A1680P|ARHGEF28_ENST00000545377.1_Missense_Mutation_p.A1724P			Q8N1W1	ARG28_HUMAN	Rho guanine nucleotide exchange factor (GEF) 28	1698	Interaction with microtubules. {ECO:0000250}.				central nervous system neuron axonogenesis (GO:0021955)|intracellular signal transduction (GO:0035556)|neurofilament cytoskeleton organization (GO:0060052)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|RNA binding (GO:0003723)										TGGAGATGGAGCCAAAGAAAA	0.398																																																	0																																										SO:0001583	missense	64283				CCDS47231.1, CCDS47231.2, CCDS54870.1, CCDS58957.1	5q13.2	2012-08-08			ENSG00000214944	ENSG00000214944			30322	protein-coding gene	gene with protein product		612790				9199174, 11058585	Standard	NM_001177693		Approved	RGNEF, p190RhoGEF, RIP2	uc010izf.3	Q8N1W1	OTTHUMG00000162454	ENST00000426542.2:c.5092G>C	5.37:g.73236812G>C	ENSP00000412175:p.Ala1698Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RXG7|B4E3K4|B5MDA3|B7ZW32|E9PC75|Q8NCM7|Q96E37|Q9H6L3|Q9H6W0	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain	p.A1724P	ENST00000426542.2	37	c.5170	CCDS54870.1	5	.	.	.	.	.	.	.	.	.	.	G	24.3	4.521188	0.85600	.	.	ENSG00000214944	ENST00000545377;ENST00000513042;ENST00000287898;ENST00000437974;ENST00000426542;ENST00000296799;ENST00000512883	T;T;T;T;T;T;T	0.38722	2.84;3.1;2.64;2.84;3.1;2.94;1.12	5.98	3.27	0.37495	.	.	.	.	.	T	0.40743	0.1129	N	0.24115	0.695	0.09310	N	1	P;P;D;D	0.63880	0.93;0.93;0.966;0.993	B;B;B;P	0.56563	0.368;0.368;0.446;0.801	T	0.14309	-1.0477	9	0.62326	D	0.03	.	7.3095	0.26467	0.2586:0.0:0.7414:0.0	.	1385;1698;1724;644	B5MDA3;Q8N1W1;E9PC75;D6RGZ3	.;RGNEF_HUMAN;.;.	P	1724;1698;1680;1724;1698;1385;644	ENSP00000441913:A1724P;ENSP00000441436:A1698P;ENSP00000287898:A1680P;ENSP00000411459:A1724P;ENSP00000412175:A1698P;ENSP00000296799:A1385P;ENSP00000421081:A644P	ENSP00000287898:A1680P	A	+	1	0	RP11-428C6.1	73272568	0.583000	0.26757	0.002000	0.10522	0.827000	0.46813	3.378000	0.52432	0.894000	0.36317	-0.142000	0.14014	GCC	ARHGEF28	-	NULL		0.398	ARHGEF28-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGEF28	HGNC	protein_coding	OTTHUMT00000368975.1	G			73236812	+1	no_errors	ENST00000545377	ensembl	human	known	70_37	missense	SNP	0.001	C
ATP8A2	51761	genome.wustl.edu	37	13	26413729	26413729	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr13:26413729C>T	ENST00000381655.2	+	30	3065	c.2923C>T	c.(2923-2925)Ctc>Ttc	p.L975F	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.L910F	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	935					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CTCCCTCATCCTCTTCTGGTT	0.527																																																	0													146.0	146.0	146.0					13																	26413729		1991	4170	6161	SO:0001583	missense	51761			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2923C>T	13.37:g.26413729C>T	ENSP00000371070:p.Leu975Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.L975F	ENST00000381655.2	37	c.2923	CCDS41873.1	13	.	.	.	.	.	.	.	.	.	.	C	28.1	4.886455	0.91814	.	.	ENSG00000132932	ENST00000381655;ENST00000255283;ENST00000544544	T;T	0.68903	-0.36;-0.36	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.82277	0.5002	M	0.72479	2.2	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.991;0.996;0.991	D	0.83431	0.0038	10	0.87932	D	0	.	19.6939	0.96016	0.0:1.0:0.0:0.0	.	910;755;935	B7Z880;F5GZN5;Q9NTI2	.;.;AT8A2_HUMAN	F	975;910;755	ENSP00000371070:L975F;ENSP00000255283:L910F	ENSP00000255283:L910F	L	+	1	0	ATP8A2	25311729	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.479000	0.81095	2.656000	0.90262	0.557000	0.71058	CTC	ATP8A2	-	tigrfam_ATPase_P-typ_Plipid-transl		0.527	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8A2	HGNC	protein_coding	OTTHUMT00000044236.2	C	NM_016529		26413729	+1	no_errors	ENST00000381655	ensembl	human	known	70_37	missense	SNP	1.000	T
C10orf12	26148	genome.wustl.edu	37	10	98744690	98744690	+	Silent	SNP	G	G	A			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr10:98744690G>A	ENST00000286067.2	+	1	3650	c.3543G>A	c.(3541-3543)ctG>ctA	p.L1181L		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	1181										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CGGAAACACTGACGAAACCTG	0.512																																																	0													45.0	52.0	50.0					10																	98744690		2203	4300	6503	SO:0001819	synonymous_variant	26148			BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.3543G>A	10.37:g.98744690G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H945|Q9Y457	Silent	SNP	NULL	p.L1181	ENST00000286067.2	37	c.3543	CCDS7452.1	10																																																																																			C10orf12	-	NULL		0.512	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf12	HGNC	protein_coding	OTTHUMT00000049627.1	G	NM_015652		98744690	+1	no_errors	ENST00000286067	ensembl	human	known	70_37	silent	SNP	0.000	A
C2CD4D	100191040	genome.wustl.edu	37	1	151811322	151811322	+	Silent	SNP	G	G	A			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr1:151811322G>A	ENST00000454109.1	-	2	729	c.144C>T	c.(142-144)atC>atT	p.I48I	Y_RNA_ENST00000364264.1_RNA	NM_001136003.1	NP_001129475.1	B7Z1M9	C2D4D_HUMAN	C2 calcium-dependent domain containing 4D	48										skin(1)	1						AGAACTGCGGGATGCGATCCG	0.781																																																	0													8.0	12.0	11.0					1																	151811322		681	1581	2262	SO:0001819	synonymous_variant	100191040			BC171843	CCDS44224.1	1q21.3	2012-07-02			ENSG00000225556	ENSG00000225556			37210	protein-coding gene	gene with protein product	"""family with sequence similarity 148, member D"""						Standard	NM_001136003		Approved	FAM148D	uc010pdq.1	B7Z1M9	OTTHUMG00000167218	ENST00000454109.1:c.144C>T	1.37:g.151811322G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RXG8	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.I48	ENST00000454109.1	37	c.144	CCDS44224.1	1																																																																																			C2CD4D	-	NULL		0.781	C2CD4D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2CD4D	HGNC	protein_coding	OTTHUMT00000393778.1	G	NM_001136003		151811322	-1	no_errors	ENST00000454109	ensembl	human	known	70_37	silent	SNP	1.000	A
CBLN4	140689	genome.wustl.edu	37	20	54573720	54573720	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr20:54573720G>A	ENST00000064571.2	-	3	1799	c.499C>T	c.(499-501)Ctc>Ttc	p.L167F		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	167	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				protein secretion (GO:0009306)	cell junction (GO:0030054)|extracellular space (GO:0005615)|synapse (GO:0045202)				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			TCTAGGTAGAGCAGGACACCA	0.438																																																	0													106.0	96.0	100.0					20																	54573720		2203	4300	6503	SO:0001583	missense	140689			AY358527	CCDS13448.1	20q13	2004-08-19	2004-08-19	2004-08-19	ENSG00000054803	ENSG00000054803			16231	protein-coding gene	gene with protein product		615029	"""cerebellin precursor-like 1"""	CBLNL1			Standard	NM_080617		Approved	dJ885A10.1	uc002xxa.4	Q9NTU7	OTTHUMG00000032782	ENST00000064571.2:c.499C>T	20.37:g.54573720G>A	ENSP00000064571:p.Leu167Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0S5	Missense_Mutation	SNP	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.L167F	ENST00000064571.2	37	c.499	CCDS13448.1	20	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308282	0.40895	.	.	ENSG00000054803	ENST00000064571	D	0.83250	-1.7	5.48	3.54	0.40534	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.85682	D	0.000000	D	0.91236	0.7238	H	0.94886	3.595	0.58432	D	0.99999	D	0.63880	0.993	P	0.62740	0.906	D	0.90067	0.4160	10	0.72032	D	0.01	-18.0529	6.9154	0.24357	0.1445:0.0:0.7155:0.14	.	167	Q9NTU7	CBLN4_HUMAN	F	167	ENSP00000064571:L167F	ENSP00000064571:L167F	L	-	1	0	CBLN4	54007127	1.000000	0.71417	0.087000	0.20705	0.616000	0.37450	3.253000	0.51469	0.686000	0.31488	0.491000	0.48974	CTC	CBLN4	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q		0.438	CBLN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLN4	HGNC	protein_coding	OTTHUMT00000079783.2	G	NM_080617		54573720	-1	no_errors	ENST00000064571	ensembl	human	known	70_37	missense	SNP	0.721	A
CEP104	9731	genome.wustl.edu	37	1	3759786	3759786	+	Intron	SNP	C	C	T			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr1:3759786C>T	ENST00000378230.3	-	6	891				CEP104_ENST00000378223.3_Nonsense_Mutation_p.W223*	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa							centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						GCAAGGGAACCACTGTCCCAA	0.582																																																	0																																										SO:0001627	intron_variant	9731			AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.566+1684G>A	1.37:g.3759786C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Nonsense_Mutation	SNP	superfamily_Galactose-bd-like	p.W223*	ENST00000378230.3	37	c.668	CCDS30571.1	1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.367850	0.42003	.	.	ENSG00000116198	ENST00000378223	.	.	.	0.751	-0.84	0.10755	.	.	.	.	.	.	.	.	.	.	.	0.47862	D	0.999538	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	.	.	.	.	.	.	.	X	223	.	ENSP00000367468:W223X	W	-	2	0	CEP104	3749646	0.000000	0.05858	0.003000	0.11579	0.009000	0.06853	-0.805000	0.04530	-0.339000	0.08401	-0.367000	0.07326	TGG	CEP104	-	NULL		0.582	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP104	HGNC	protein_coding	OTTHUMT00000009747.3	C	NM_014704		3759786	-1	no_errors	ENST00000378223	ensembl	human	known	70_37	nonsense	SNP	0.003	T
COL5A1	1289	genome.wustl.edu	37	9	137620534	137620534	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr9:137620534G>A	ENST00000371817.3	+	6	1219	c.805G>A	c.(805-807)Gag>Aag	p.E269K		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	269	Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGAGACGGCGAGGGTGAGAC	0.602																																																	0													126.0	131.0	129.0					9																	137620534		2203	4300	6503	SO:0001583	missense	1289			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.805G>A	9.37:g.137620534G>A	ENSP00000360882:p.Glu269Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15094|Q5SUX4	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.E269K	ENST00000371817.3	37	c.805	CCDS6982.1	9	.	.	.	.	.	.	.	.	.	.	G	9.720	1.159493	0.21454	.	.	ENSG00000130635	ENST00000371817	D	0.89050	-2.46	3.93	3.93	0.45458	.	0.247548	0.25813	U	0.028139	D	0.83691	0.5309	L	0.59436	1.845	0.38405	D	0.945766	B	0.28783	0.222	B	0.16289	0.015	T	0.80560	-0.1328	10	0.06099	T	0.92	.	15.9158	0.79517	0.0:0.0:1.0:0.0	.	269	P20908	CO5A1_HUMAN	K	269	ENSP00000360882:E269K	ENSP00000360882:E269K	E	+	1	0	COL5A1	136760355	1.000000	0.71417	0.634000	0.29324	0.452000	0.32318	5.371000	0.66150	1.724000	0.51502	0.462000	0.41574	GAG	COL5A1	-	NULL		0.602	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL5A1	HGNC	protein_coding	OTTHUMT00000054954.2	G	NM_000093		137620534	+1	no_errors	ENST00000371817	ensembl	human	known	70_37	missense	SNP	0.999	A
CUL3	8452	genome.wustl.edu	37	2	225339094	225339095	+	Splice_Site	INS	-	-	CA			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr2:225339094_225339095insCA	ENST00000264414.4	-	16	2514		c.e16-1		CUL3_ENST00000409777.1_Splice_Site|CUL3_ENST00000344951.4_Splice_Site|CUL3_ENST00000409096.1_Splice_Site	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3						cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GCTGAGTTACCTAAAAAAGAAA	0.332																																																	0																																										SO:0001630	splice_region_variant	8452			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.2176-1->TG	2.37:g.225339094_225339095insCA		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Splice_Site	INS	-	e16-1	ENST00000264414.4	37	c.2176-2_2176-1	CCDS2462.1	2																																																																																			CUL3	-	-		0.332	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL3	HGNC	protein_coding	OTTHUMT00000256871.2	-		Intron	225339095	-1	no_errors	ENST00000264414	ensembl	human	known	70_37	splice_site_ins	INS	1.000:1.000	CA
CUL3	8452	genome.wustl.edu	37	2	225339095	225339095	+	Splice_Site	SNP	T	T	A			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr2:225339095T>A	ENST00000264414.4	-	16	2514		c.e16-2		CUL3_ENST00000409777.1_Splice_Site|CUL3_ENST00000344951.4_Splice_Site|CUL3_ENST00000409096.1_Splice_Site	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3						cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|COPII vesicle coating (GO:0048208)|cyclin catabolic process (GO:0008054)|embryonic cleavage (GO:0040016)|ER to Golgi vesicle-mediated transport (GO:0006888)|G1/S transition of mitotic cell cycle (GO:0000082)|gastrulation (GO:0007369)|integrin-mediated signaling pathway (GO:0007229)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic metaphase plate congression (GO:0007080)|negative regulation of Rho protein signal transduction (GO:0035024)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|stem cell division (GO:0017145)|stress fiber assembly (GO:0043149)|trophectodermal cellular morphogenesis (GO:0001831)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|nucleus (GO:0005634)|polar microtubule (GO:0005827)	POZ domain binding (GO:0031208)			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		CTGAGTTACCTAAAAAAGAAA	0.328																																																	0													62.0	59.0	60.0					2																	225339095		2203	4300	6503	SO:0001630	splice_region_variant	8452			U58089	CCDS2462.1, CCDS58751.1	2q36.2	2011-05-24			ENSG00000036257	ENSG00000036257			2553	protein-coding gene	gene with protein product		603136				8681378, 17192413	Standard	NM_003590		Approved		uc002vny.3	Q13618	OTTHUMG00000133167	ENST00000264414.4:c.2176-2A>T	2.37:g.225339095T>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K536|B8ZZC3|O75415|Q569L3|Q9UBI8|Q9UET7	Splice_Site	SNP	-	e16-2	ENST00000264414.4	37	c.2176-2	CCDS2462.1	2	.	.	.	.	.	.	.	.	.	.	T	15.78	2.934796	0.52866	.	.	ENSG00000036257	ENST00000264414;ENST00000344951;ENST00000409096;ENST00000409777;ENST00000451538	.	.	.	5.38	5.38	0.77491	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.3902	0.74739	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	CUL3	225047339	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	5.949000	0.70257	2.042000	0.60477	0.533000	0.62120	.	CUL3	-	-		0.328	CUL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL3	HGNC	protein_coding	OTTHUMT00000256871.2	T		Intron	225339095	-1	no_errors	ENST00000264414	ensembl	human	known	70_37	splice_site	SNP	1.000	A
DDX39A	10212	genome.wustl.edu	37	19	14520640	14520640	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr19:14520640C>T	ENST00000242776.4	-	7	879	c.778G>A	c.(778-780)Ggc>Agc	p.G260S	DDX39A_ENST00000592927.1_5'UTR|CTC-548K16.5_ENST00000590626.1_RNA	NM_005804.3	NP_005795.2	O00148	DX39A_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 39A	260	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(5)|kidney(1)|lung(2)|ovary(1)|pancreas(1)	11						TGCTGCAGGCCGTGCAGCGTG	0.562																																																	0													96.0	85.0	89.0					19																	14520640		2203	4300	6503	SO:0001583	missense	10212			U90426	CCDS12308.1	19p13.12	2011-02-08	2011-02-08	2011-02-08	ENSG00000123136	ENSG00000123136		"""DEAD-boxes"""	17821	protein-coding gene	gene with protein product	"""UAP56-related helicase, 49 kDa"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 39"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 39"""	DDX39		7601445	Standard	NM_005804		Approved	DDXL, BAT1L, URH49	uc002myo.3	O00148		ENST00000242776.4:c.778G>A	19.37:g.14520640C>T	ENSP00000242776:p.Gly260Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N5M0|Q9BVP6|Q9H5W0	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.G260S	ENST00000242776.4	37	c.778	CCDS12308.1	19	.	.	.	.	.	.	.	.	.	.	C	28.6	4.933904	0.92458	.	.	ENSG00000123136	ENST00000451994;ENST00000242776;ENST00000324340	T;T	0.05717	3.54;3.4	4.82	4.82	0.62117	Helicase, C-terminal (1);DEAD-like helicase (1);	0.000000	0.85682	D	0.000000	T	0.21267	0.0512	M	0.62154	1.92	0.80722	D	1	D	0.76494	0.999	D	0.67382	0.951	T	0.00317	-1.1822	10	0.66056	D	0.02	-23.4827	15.3718	0.74570	0.0:1.0:0.0:0.0	.	260	O00148	DX39A_HUMAN	S	303;260;260	ENSP00000242776:G260S;ENSP00000322749:G260S	ENSP00000242776:G260S	G	-	1	0	DDX39A	14381640	1.000000	0.71417	0.702000	0.30337	0.944000	0.59088	7.358000	0.79466	2.226000	0.72624	0.561000	0.74099	GGC	DDX39A	-	smart_Helicase_ATP-bd,pfscan_Helicase_C		0.562	DDX39A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX39A	HGNC	protein_coding	OTTHUMT00000459880.1	C	NM_138998		14520640	-1	no_errors	ENST00000242776	ensembl	human	known	70_37	missense	SNP	0.999	T
DNAJC1	64215	genome.wustl.edu	37	10	22048515	22048515	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr10:22048515C>G	ENST00000376980.3	-	11	1470	c.1180G>C	c.(1180-1182)Gtt>Ctt	p.V394L	DNAJC1_ENST00000483085.1_5'UTR	NM_022365.3	NP_071760.2	Q96KC8	DNJC1_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 1	394					negative regulation of proteolysis (GO:0045861)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)|regulation of protein secretion (GO:0050708)|regulation of translation (GO:0006417)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(2)|lung(13)|skin(2)|upper_aerodigestive_tract(2)	21		Breast(68;0.00869)|Prostate(175;0.0181)|Lung SC(717;0.0262)				GAATTCTGAACTGTCGATTTG	0.557																																																	0													53.0	48.0	50.0					10																	22048515		2203	4300	6503	SO:0001583	missense	64215			AK026062	CCDS7136.1	10p11.23	2011-09-02			ENSG00000136770	ENSG00000136770		"""Heat shock proteins / DNAJ (HSP40)"""	20090	protein-coding gene	gene with protein product		611207					Standard	NM_022365		Approved	DNAJL1, ERdj1, MTJ1	uc001irc.3	Q96KC8	OTTHUMG00000017800	ENST00000376980.3:c.1180G>C	10.37:g.22048515C>G	ENSP00000366179:p.Val394Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B0YIZ8|Q5VX89|Q9H6B8	Missense_Mutation	SNP	pfam_DnaJ_N,pfam_SANT/Myb,superfamily_DnaJ_N,superfamily_Homeodomain-like,smart_DnaJ_N,smart_SANT/Myb,prints_Hsp_DnaJ,pfscan_Myb-like_dom,pfscan_DnaJ_N	p.V394L	ENST00000376980.3	37	c.1180	CCDS7136.1	10	.	.	.	.	.	.	.	.	.	.	C	11.74	1.729489	0.30684	.	.	ENSG00000136770	ENST00000376980	T	0.21932	1.98	5.31	5.31	0.75309	.	0.371459	0.28036	N	0.016847	T	0.16854	0.0405	L	0.34521	1.04	0.80722	D	1	B;B	0.30406	0.278;0.003	B;B	0.22386	0.039;0.002	T	0.05115	-1.0905	10	0.22109	T	0.4	0.0101	17.153	0.86782	0.0:1.0:0.0:0.0	.	115;394	Q96NY3;Q96KC8	.;DNJC1_HUMAN	L	394	ENSP00000366179:V394L	ENSP00000366179:V394L	V	-	1	0	DNAJC1	22088521	0.443000	0.25641	0.008000	0.14137	0.215000	0.24574	2.388000	0.44398	2.489000	0.83994	0.491000	0.48974	GTT	DNAJC1	-	NULL		0.557	DNAJC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC1	HGNC	protein_coding	OTTHUMT00000047149.1	C	NM_022365		22048515	-1	no_errors	ENST00000376980	ensembl	human	known	70_37	missense	SNP	0.213	G
DSCAM	1826	genome.wustl.edu	37	21	42080507	42080507	+	Silent	SNP	G	G	A			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr21:42080507G>A	ENST00000400454.1	-	2	711	c.234C>T	c.(232-234)aaC>aaT	p.N78N		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	78	Ig-like C2-type 1.				cell adhesion (GO:0007155)|dendrite morphogenesis (GO:0048813)|dendrite self-avoidance (GO:0070593)|locomotory behavior (GO:0007626)|negative regulation of cell adhesion (GO:0007162)|nervous system development (GO:0007399)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)	axon (GO:0030424)|extracellular region (GO:0005576)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GGAGAGTGCCGTTGGGGTGGA	0.522																																					Melanoma(134;970 1778 1785 21664 32388)												0													98.0	100.0	99.0					21																	42080507		1947	4144	6091	SO:0001819	synonymous_variant	1826			AF023449	CCDS42929.1	21q22.2-q22.3	2013-02-11			ENSG00000171587	ENSG00000171587		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	3039	protein-coding gene	gene with protein product		602523				9426258	Standard	NM_001271534		Approved	CHD2-42, CHD2-52	uc002yyq.1	O60469	OTTHUMG00000086732	ENST00000400454.1:c.234C>T	21.37:g.42080507G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O60468	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.N78	ENST00000400454.1	37	c.234	CCDS42929.1	21																																																																																			DSCAM	-	smart_Ig_sub2		0.522	DSCAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAM	HGNC	protein_coding	OTTHUMT00000195029.1	G	NM_001389		42080507	-1	no_errors	ENST00000400454	ensembl	human	known	70_37	silent	SNP	1.000	A
ENC1	8507	genome.wustl.edu	37	5	73931944	73931944	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr5:73931944C>A	ENST00000302351.4	-	2	1497	c.367G>T	c.(367-369)Gct>Tct	p.A123S	ENC1_ENST00000510316.1_Missense_Mutation_p.A50S|ENC1_ENST00000537006.1_Missense_Mutation_p.A123S	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	123				INEENAESLLEAGDMLEFQ -> HQLEGKCRNSLLGSLVTC WSFK (in Ref. 1). {ECO:0000305}.	multicellular organismal development (GO:0007275)|negative regulation of translation (GO:0017148)|nervous system development (GO:0007399)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		ATGTCACCAGCTTCCAGGAGC	0.522																																																	0													103.0	100.0	101.0					5																	73931944		2203	4300	6503	SO:0001583	missense	8507			AF059611	CCDS4021.1, CCDS58958.1	5q13	2013-01-30	2013-01-30		ENSG00000171617	ENSG00000171617		"""Kelch-like"", ""BTB/POZ domain containing"""	3345	protein-coding gene	gene with protein product	"""kelch-like family member 37"""	605173	"""ectodermal-neural cortex 1 (with BTB-like domain)"""	NRPB		9305847, 9566959	Standard	NM_003633		Approved	PIG10, ENC-1, TP53I10, KLHL37	uc003kdc.5	O14682	OTTHUMG00000102059	ENST00000302351.4:c.367G>T	5.37:g.73931944C>A	ENSP00000306356:p.Ala123Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DHJ1|E9PFU0|O75464|Q9UPG9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.A123S	ENST00000302351.4	37	c.367	CCDS4021.1	5	.	.	.	.	.	.	.	.	.	.	C	24.7	4.555038	0.86231	.	.	ENSG00000171617	ENST00000302351;ENST00000510316;ENST00000537006	T;T;T	0.74526	-0.85;-0.85;-0.85	6.04	6.04	0.98038	BTB/POZ-like (1);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.89904	0.6850	M	0.92026	3.265	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	D	0.90865	0.4741	10	0.87932	D	0	.	20.5792	0.99380	0.0:1.0:0.0:0.0	.	123	O14682	ENC1_HUMAN	S	123;50;123	ENSP00000306356:A123S;ENSP00000423804:A50S;ENSP00000446289:A123S	ENSP00000306356:A123S	A	-	1	0	ENC1	73967700	1.000000	0.71417	0.972000	0.41901	0.978000	0.69477	7.818000	0.86416	2.873000	0.98535	0.561000	0.74099	GCT	ENC1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin		0.522	ENC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENC1	HGNC	protein_coding	OTTHUMT00000219862.2	C	NM_003633		73931944	-1	no_errors	ENST00000302351	ensembl	human	known	70_37	missense	SNP	1.000	A
MT-ND6	4541	genome.wustl.edu	37	M	15908	15908	+	5'Flank	SNP	T	T	C			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chrM:15908T>C	ENST00000361681.2	-	0	0				MT-TE_ENST00000387459.1_RNA|MT-TT_ENST00000387460.2_RNA|MT-TP_ENST00000387461.2_RNA			P03923	NU6M_HUMAN	mitochondrially encoded NADH dehydrogenase 6						cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|respiratory chain (GO:0070469)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(10)|kidney(17)|urinary_tract(1)	29						GTATAAACTAATACACCAGTC	0.368																																																	0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198695	ENSG00000198695	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7462	protein-coding gene	gene with protein product	"""complex I ND6 subunit"", ""NADH-ubiquinone oxidoreductase chain 6"""	516006	"""NADH dehydrogenase 6"""	MTND6			Standard			Approved	NAD6, ND6		P03923			M.37:g.15908T>C	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	Q34774|Q8HG30	RNA	SNP	-	NULL	ENST00000361681.2	37	NULL		MT																																																																																			J01415.21	-	-		0.368	MT-ND6-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000210195	Clone_based_ensembl_gene	protein_coding		T	YP_003024037		15908	+1	no_errors	ENST00000387460	ensembl	human	novel	70_37	rna	SNP	NULL	C
ZNF813	126017	genome.wustl.edu	37	19	54007225	54007225	+	IGR	SNP	C	C	T			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr19:54007225C>T	ENST00000396421.4	+	0	300				CTD-2224J9.8_ENST00000601966.1_RNA			Q6ZN06	ZN813_HUMAN	zinc finger protein 813						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		GGGGCTCATGCTCTGGGGCAG	0.597																																																	0																																										SO:0001628	intergenic_variant	0			AK091460	CCDS46172.1	19q13.41	2013-01-08			ENSG00000198346	ENSG00000198346		"""Zinc fingers, C2H2-type"", ""-"""	33257	protein-coding gene	gene with protein product							Standard	NM_001004301		Approved	FLJ16542	uc002qbu.2	Q6ZN06	OTTHUMG00000158309		19.37:g.54007225C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000396421.4	37	NULL		19																																																																																			CTD-2224J9.8	-	-		0.597	ZNF813-201	KNOWN	basic	protein_coding	ENSG00000213777	Clone_based_vega_gene	protein_coding		C	NM_001004301		54007225	+1	no_errors	ENST00000597004	ensembl	human	known	70_37	rna	SNP	0.844	T
RP3-470B24.5	0	genome.wustl.edu	37	6	168377064	168377064	+	lincRNA	SNP	A	A	G	rs79533783	byFrequency	TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr6:168377064A>G	ENST00000538528.1	-	0	555																											GGAGGAGAAGACAGTGGGGGT	0.637																																																	0													2.0	3.0	2.0					6																	168377064		930	1910	2840			0																															6.37:g.168377064A>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000538528.1	37	NULL		6																																																																																			RP3-470B24.5	-	-		0.637	RP3-470B24.5-201	KNOWN	basic	lincRNA	ENSG00000235994	Clone_based_vega_gene	lincRNA		A			168377064	-1	no_errors	ENST00000538528	ensembl	human	known	70_37	rna	SNP	0.701	G
TBC1D3P3	653017	genome.wustl.edu	37	17	20451439	20451439	+	lincRNA	SNP	G	G	C			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr17:20451439G>C	ENST00000591705.1	+	0	2756																											ACCCCCCCAGGCTGGGCTTGA	0.587																																																	0																																												0																															17.37:g.20451439G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000591705.1	37	NULL		17																																																																																			RP11-434D2.3	-	-		0.587	RP11-434D2.3-001	KNOWN	basic	lincRNA	ENSG00000267075	Clone_based_vega_gene	lincRNA	OTTHUMT00000441761.2	G			20451439	+1	no_errors	ENST00000591705	ensembl	human	known	70_37	rna	SNP	0.001	C
ERLEC1	27248	genome.wustl.edu	37	2	54014459	54014459	+	Missense_Mutation	SNP	A	A	C			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr2:54014459A>C	ENST00000185150.4	+	1	243	c.112A>C	c.(112-114)Agc>Cgc	p.S38R	ERLEC1_ENST00000405123.3_Missense_Mutation_p.S38R|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000406687.1_5'Flank|GPR75-ASB3_ENST00000263634.3_5'Flank|ERLEC1_ENST00000378239.5_Missense_Mutation_p.S38R|ASB3_ENST00000498475.2_Intron|ERLEC1_ENST00000494373.1_3'UTR|GPR75-ASB3_ENST00000394717.2_5'Flank	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	38					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						TCCTCAACTCAGCGATGACAT	0.677																																																	0													60.0	69.0	66.0					2																	54014459		2203	4300	6503	SO:0001583	missense	27248			AF131849	CCDS1848.1, CCDS46283.1, CCDS46284.1	2p16	2010-03-19	2009-08-26	2009-08-26	ENSG00000068912	ENSG00000068912			25222	protein-coding gene	gene with protein product	"""erlectin 1"""	611229	"""chromosome 2 open reading frame 30"""	C2orf30		9110174, 8619474, 16531414, 18264092	Standard	NM_015701		Approved	CL25084, XTP3TPB, XTP3-B, ERLECTIN	uc002rxl.3	Q96DZ1	OTTHUMG00000129281	ENST00000185150.4:c.112A>C	2.37:g.54014459A>C	ENSP00000185150:p.Ser38Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Missense_Mutation	SNP	pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom	p.S38R	ENST00000185150.4	37	c.112	CCDS1848.1	2	.	.	.	.	.	.	.	.	.	.	A	17.60	3.430083	0.62844	.	.	ENSG00000068912	ENST00000405123;ENST00000185150;ENST00000378239	T;T	0.45276	0.9;0.91	4.51	4.51	0.55191	.	0.164879	0.52532	D	0.000075	T	0.33614	0.0869	.	.	.	0.58432	D	0.999999	B;B;B	0.16166	0.016;0.016;0.006	B;B;B	0.14023	0.01;0.006;0.003	T	0.10337	-1.0634	9	0.33141	T	0.24	-10.3273	13.6589	0.62354	1.0:0.0:0.0:0.0	.	38;38;38	Q96DZ1-2;B5MC72;Q96DZ1	.;.;ERLEC_HUMAN	R	38	ENSP00000385629:S38R;ENSP00000185150:S38R	ENSP00000185150:S38R	S	+	1	0	ERLEC1	53867963	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	6.507000	0.73717	1.879000	0.54435	0.459000	0.35465	AGC	ERLEC1	-	NULL		0.677	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERLEC1	HGNC	protein_coding	OTTHUMT00000251404.1	A	NM_015701		54014459	+1	no_errors	ENST00000185150	ensembl	human	known	70_37	missense	SNP	1.000	C
NUTM2G	441457	genome.wustl.edu	37	9	99700931	99700931	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr9:99700931C>T	ENST00000372322.3	+	7	1747	c.1726C>T	c.(1726-1728)Cgg>Tgg	p.R576W	NUTM2G_ENST00000354649.3_Intron|HIATL2_ENST00000506067.1_Intron	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	576																	GAAGGCTGTCCGGCCAACCTC	0.652																																																	0													38.0	56.0	50.0					9																	99700931		691	1591	2282	SO:0001583	missense	441457				CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member G"""	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.1726C>T	9.37:g.99700931C>T	ENSP00000361397:p.Arg576Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNI5|Q5VZR3	Missense_Mutation	SNP	NULL	p.R576W	ENST00000372322.3	37	c.1726	CCDS55329.1	9	.	.	.	.	.	.	.	.	.	.	.	6.785	0.513769	0.12944	.	.	ENSG00000188152	ENST00000372322;ENST00000417159;ENST00000375230	T	0.12361	2.69	0.845	0.845	0.18950	.	3.662470	0.00772	N	0.001209	T	0.17662	0.0424	L	0.47716	1.5	0.09310	N	1	.	.	.	.	.	.	T	0.28490	-1.0042	8	0.52906	T	0.07	.	5.0891	0.14698	0.0:1.0:0.0:0.0	.	.	.	.	W	576;425;457	ENSP00000361397:R576W	ENSP00000361397:R576W	R	+	1	2	FAM22G	98740752	0.000000	0.05858	0.001000	0.08648	0.002000	0.02628	-0.862000	0.04263	0.785000	0.33685	0.291000	0.19559	CGG	FAM22G	-	NULL		0.652	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM22G	HGNC	protein_coding	OTTHUMT00000053291.2	C	NM_001170741		99700931	+1	no_errors	ENST00000372322	ensembl	human	known	70_37	missense	SNP	0.001	T
FAM47A	158724	genome.wustl.edu	37	X	34148844	34148844	+	Missense_Mutation	SNP	G	G	C	rs17855514		TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chrX:34148844G>C	ENST00000346193.3	-	1	1603	c.1552C>G	c.(1552-1554)Cgc>Ggc	p.R518G		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	518										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GGCTCCGAGCGGAGACTGGAC	0.657																																																	0													27.0	27.0	27.0					X																	34148844		2183	4264	6447	SO:0001583	missense	158724			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1552C>G	X.37:g.34148844G>C	ENSP00000345029:p.Arg518Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8I9|Q8TAA0	Missense_Mutation	SNP	NULL	p.R518G	ENST00000346193.3	37	c.1552	CCDS43926.1	X	.	.	.	.	.	.	.	.	.	.	g	4.430	0.079632	0.08533	.	.	ENSG00000185448	ENST00000346193	T	0.13778	2.56	0.494	0.494	0.16884	.	.	.	.	.	T	0.10895	0.0266	L	0.50333	1.59	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39901	-0.9591	8	0.14656	T	0.56	.	.	.	.	rs17855514	518	Q5JRC9	FA47A_HUMAN	G	518	ENSP00000345029:R518G	ENSP00000345029:R518G	R	-	1	0	FAM47A	34058765	0.012000	0.17670	0.002000	0.10522	0.003000	0.03518	2.017000	0.40981	0.471000	0.27319	0.271000	0.19318	CGC	FAM47A	-	NULL		0.657	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47A	HGNC	protein_coding	OTTHUMT00000056205.1	G	NM_203408		34148844	-1	no_errors	ENST00000346193	ensembl	human	known	70_37	missense	SNP	0.005	C
FLT3	2322	genome.wustl.edu	37	13	28601288	28601288	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr13:28601288G>A	ENST00000241453.7	-	17	2225	c.2144C>T	c.(2143-2145)aCa>aTa	p.T715I	FLT3_ENST00000380982.4_Missense_Mutation_p.T715I|FLT3_ENST00000537084.1_Missense_Mutation_p.T715I	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	715	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAAAATCTCTGTCCAAGTCCT	0.363			"""Mis, O"""		"""AML, ALL"""																																			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0													162.0	166.0	165.0					13																	28601288		2203	4300	6503	SO:0001583	missense	2322			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.2144C>T	13.37:g.28601288G>A	ENSP00000241453:p.Thr715Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.T715I	ENST00000241453.7	37	c.2144	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446810	0.84101	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	D;D;D	0.88896	-2.44;-2.44;-2.44	6.03	6.03	0.97812	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000001	D	0.90762	0.7100	N	0.20445	0.575	0.53688	D	0.999978	D;P	0.89917	1.0;0.615	D;P	0.91635	0.999;0.74	D	0.89622	0.3849	10	0.35671	T	0.21	.	20.5568	0.99304	0.0:0.0:1.0:0.0	.	715;715	P36888-2;P36888	.;FLT3_HUMAN	I	715	ENSP00000241453:T715I;ENSP00000370369:T715I;ENSP00000438139:T715I	ENSP00000241453:T715I	T	-	2	0	FLT3	27499288	1.000000	0.71417	0.998000	0.56505	0.995000	0.86356	7.418000	0.80167	2.861000	0.98227	0.655000	0.94253	ACA	FLT3	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.363	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	HGNC	protein_coding	OTTHUMT00000044319.2	G			28601288	-1	no_errors	ENST00000380982	ensembl	human	known	70_37	missense	SNP	1.000	A
GSTA5	221357	genome.wustl.edu	37	6	52701125	52701125	+	Missense_Mutation	SNP	C	C	A			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr6:52701125C>A	ENST00000370989.2	-	3	210	c.181G>T	c.(181-183)Gac>Tac	p.D61Y	GSTA5_ENST00000475052.1_Intron|GSTA5_ENST00000284562.2_Missense_Mutation_p.D61Y			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5	61	GST N-terminal.				glutathione metabolic process (GO:0006749)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	TTCATCCCGTCAATCTCAACC	0.428																																																	0													125.0	123.0	124.0					6																	52701125		2203	4300	6503	SO:0001583	missense	221357			BK000212	CCDS4946.1	6p12.2	2012-06-21	2008-11-26		ENSG00000182793	ENSG00000182793	2.5.1.18	"""Glutathione S-transferases / Soluble"""	19662	protein-coding gene	gene with protein product		607605	"""glutathione S-transferase A5"""			12042665	Standard	NM_153699		Approved		uc003pba.1	Q7RTV2	OTTHUMG00000014857	ENST00000370989.2:c.181G>T	6.37:g.52701125C>A	ENSP00000360028:p.Asp61Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SZC2	Missense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha	p.D61Y	ENST00000370989.2	37	c.181	CCDS4946.1	6	.	.	.	.	.	.	.	.	.	.	C	14.05	2.419109	0.42918	.	.	ENSG00000182793	ENST00000370989;ENST00000284562	T;T	0.19250	2.16;2.16	2.63	0.668	0.17912	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.171457	0.49305	N	0.000150	T	0.53222	0.1783	H	0.99874	4.875	0.44677	D	0.997664	D	0.89917	1.0	D	0.87578	0.998	T	0.61158	-0.7119	10	0.87932	D	0	.	8.0695	0.30680	0.0:0.7791:0.0:0.2209	.	61	Q7RTV2	GSTA5_HUMAN	Y	61	ENSP00000360028:D61Y;ENSP00000284562:D61Y	ENSP00000284562:D61Y	D	-	1	0	GSTA5	52809084	0.950000	0.32346	0.981000	0.43875	0.699000	0.40488	2.131000	0.42074	-0.002000	0.14469	0.205000	0.17691	GAC	GSTA5	-	pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold		0.428	GSTA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTA5	HGNC	protein_coding	OTTHUMT00000040917.1	C	NM_153699		52701125	-1	no_errors	ENST00000284562	ensembl	human	known	70_37	missense	SNP	1.000	A
GTF2IRD2P1	401375	genome.wustl.edu	37	7	72658807	72658807	+	RNA	SNP	G	G	A			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr7:72658807G>A	ENST00000425256.1	-	0	1104									GTF2I repeat domain containing 2 pseudogene 1																		gtttgcatatgagacatgttg	0.413																																																	0																																												401375			AY312852		7q11.23	2010-03-19	2010-02-09	2010-02-09	ENSG00000214544	ENSG00000214544			33127	pseudogene	pseudogene			"""GTF2I repeat domain containing 2 pseudogene"""	GTF2IRD2P		15100712	Standard	NG_033736		Approved		uc003txs.1		OTTHUMG00000156803		7.37:g.72658807G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000425256.1	37	NULL		7																																																																																			GTF2IRD2P1	-	-		0.413	GTF2IRD2P1-002	KNOWN	basic	processed_transcript	GTF2IRD2P1	HGNC	pseudogene	OTTHUMT00000345921.1	G	NR_002164		72658807	-1	no_errors	ENST00000425256	ensembl	human	known	70_37	rna	SNP	0.650	A
HERC2P4	100289574	genome.wustl.edu	37	16	32182155	32182155	+	RNA	SNP	C	C	T			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr16:32182155C>T	ENST00000564730.1	-	0	353									hect domain and RLD 2 pseudogene 4																		CCTTAATGAGCGAACATTTTG	0.353																																																	0																																												100289574					16p11.2	2014-03-18			ENSG00000230267	ENSG00000230267			4872	pseudogene	pseudogene							Standard	NR_109773		Approved	D16F37S5	uc002ecx.4		OTTHUMG00000176563		16.37:g.32182155C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000564730.1	37	NULL		16																																																																																			HERC2P4	-	-		0.353	HERC2P4-006	KNOWN	basic	processed_transcript	HERC2P4	HGNC	pseudogene	OTTHUMT00000432538.1	C	NR_002827		32182155	-1	no_errors	ENST00000564730	ensembl	human	known	70_37	rna	SNP	0.958	T
IGLON5	402665	genome.wustl.edu	37	19	51831094	51831094	+	Silent	SNP	C	C	T			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr19:51831094C>T	ENST00000270642.8	+	7	876	c.876C>T	c.(874-876)cgC>cgT	p.R292R		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	292	Ig-like C2-type 3.					extracellular region (GO:0005576)				large_intestine(5)|lung(6)|prostate(1)	12						ATACGTGTCGCGCCGCCAACC	0.726																																																	0													9.0	10.0	10.0					19																	51831094		1853	3943	5796	SO:0001819	synonymous_variant	402665				CCDS46158.1	19q13.33	2013-01-29			ENSG00000142549	ENSG00000142549		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	34550	protein-coding gene	gene with protein product							Standard	NM_001101372		Approved	LOC402665	uc002pwc.2	A6NGN9	OTTHUMG00000154422	ENST00000270642.8:c.876C>T	19.37:g.51831094C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R292	ENST00000270642.8	37	c.876	CCDS46158.1	19																																																																																			IGLON5	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.726	IGLON5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGLON5	HGNC	protein_coding	OTTHUMT00000335149.1	C	NM_001101372		51831094	+1	no_errors	ENST00000270642	ensembl	human	known	70_37	silent	SNP	0.991	T
INTS7	25896	genome.wustl.edu	37	1	212156143	212156143	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr1:212156143C>T	ENST00000366994.3	-	9	1111	c.1007G>A	c.(1006-1008)aGt>aAt	p.S336N	INTS7_ENST00000366993.3_Missense_Mutation_p.S336N|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Missense_Mutation_p.S336N|INTS7_ENST00000440600.2_Missense_Mutation_p.S287N	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	336					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		GGGAGAAGAACTCACATTTCC	0.348																																																	0													72.0	69.0	70.0					1																	212156143		2203	4300	6503	SO:0001583	missense	25896			AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.1007G>A	1.37:g.212156143C>T	ENSP00000355961:p.Ser336Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S336N	ENST00000366994.3	37	c.1007	CCDS1501.1	1	.	.	.	.	.	.	.	.	.	.	C	11.59	1.682938	0.29872	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.23950	1.88;1.88;1.88;1.88	5.84	3.85	0.44370	Armadillo-type fold (1);	0.538319	0.21634	N	0.071425	T	0.07773	0.0195	N	0.01352	-0.895	0.28211	N	0.926929	B;B;B;B	0.16603	0.018;0.018;0.018;0.018	B;B;B;B	0.18263	0.021;0.021;0.021;0.017	T	0.29150	-1.0021	10	0.13470	T	0.59	-11.6424	8.3708	0.32415	0.1458:0.5772:0.277:0.0	.	287;336;336;336	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	N	336;336;336;287	ENSP00000355961:S336N;ENSP00000355960:S336N;ENSP00000355959:S336N;ENSP00000388908:S287N	ENSP00000355959:S336N	S	-	2	0	INTS7	210222766	0.939000	0.31865	0.999000	0.59377	0.948000	0.59901	1.747000	0.38298	2.765000	0.95021	0.655000	0.94253	AGT	INTS7	-	superfamily_ARM-type_fold		0.348	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	INTS7	HGNC	protein_coding	OTTHUMT00000090142.1	C	NM_015434		212156143	-1	no_errors	ENST00000366994	ensembl	human	known	70_37	missense	SNP	0.990	T
IQSEC2	23096	genome.wustl.edu	37	X	53296141	53296141	+	Intron	SNP	T	T	A			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chrX:53296141T>A	ENST00000375368.5	-	2	908				IQSEC2_ENST00000396435.3_Intron|IQSEC2_ENST00000375365.2_Intron|IQSEC2_ENST00000462054.1_5'UTR			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2						actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						GCCCTTGTCCTCTCAGTTACC	0.602																																																	0																																										SO:0001627	intron_variant	23096			AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"""mental retardation, X-linked 1 (non-dysmorphic)"""	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.708-10898A>T	X.37:g.53296141T>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KT97|C7SDG1|O60275|Q5JUX1	RNA	SNP	-	NULL	ENST00000375368.5	37	NULL		X																																																																																			IQSEC2	-	-		0.602	IQSEC2-201	KNOWN	basic	protein_coding	IQSEC2	HGNC	protein_coding		T	XM_291345		53296141	-1	no_errors	ENST00000462054	ensembl	human	known	70_37	rna	SNP	1.000	A
ITGA4	3676	genome.wustl.edu	37	2	182347104	182347104	+	Silent	SNP	T	T	A			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr2:182347104T>A	ENST00000397033.2	+	8	1288	c.858T>A	c.(856-858)atT>atA	p.I286I		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	286					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|blood vessel remodeling (GO:0001974)|cell-matrix adhesion (GO:0007160)|cell-matrix adhesion involved in ameboidal cell migration (GO:0003366)|chorio-allantoic fusion (GO:0060710)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|face development (GO:0060324)|heart development (GO:0007507)|heterophilic cell-cell adhesion (GO:0007157)|heterotypic cell-cell adhesion (GO:0034113)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|negative regulation of protein homodimerization activity (GO:0090074)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell migration (GO:0072678)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integrin alpha4-beta7 complex (GO:0034669)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)|Tinzaparin(DB06822)	TATTCAGCATTGATGAAAAAG	0.308																																																	0													73.0	68.0	70.0					2																	182347104		1801	4075	5876	SO:0001819	synonymous_variant	3676				CCDS42788.1	2q31-q32	2010-03-23			ENSG00000115232	ENSG00000115232		"""CD molecules"", ""Integrins"""	6140	protein-coding gene	gene with protein product		192975		CD49D		1537388	Standard	NM_000885		Approved	CD49d	uc002unu.3	P13612	OTTHUMG00000154212	ENST00000397033.2:c.858T>A	2.37:g.182347104T>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPG4|Q7Z4L6	Silent	SNP	pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha	p.I286	ENST00000397033.2	37	c.858	CCDS42788.1	2																																																																																			ITGA4	-	smart_Int_alpha_beta-p		0.308	ITGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGA4	HGNC	protein_coding	OTTHUMT00000334427.1	T			182347104	+1	no_errors	ENST00000397033	ensembl	human	known	70_37	silent	SNP	0.607	A
KEAP1	9817	genome.wustl.edu	37	19	10602878	10602878	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr19:10602878G>A	ENST00000171111.5	-	3	1247	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	CTC-429L19.3_ENST00000592671.1_RNA|KEAP1_ENST00000588024.1_5'UTR|KEAP1_ENST00000393623.2_Missense_Mutation_p.R234W	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	234	BACK.				cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)				breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	AGGTCGTCCCGGCTGATGAGG	0.612																																																	0													66.0	55.0	59.0					19																	10602878		2203	4300	6503	SO:0001583	missense	9817			AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.700C>T	19.37:g.10602878G>A	ENSP00000171111:p.Arg234Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.R234W	ENST00000171111.5	37	c.700	CCDS12239.1	19	.	.	.	.	.	.	.	.	.	.	G	17.46	3.396071	0.62177	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.70399	-0.48;-0.48	5.84	1.08	0.20341	BTB/Kelch-associated (2);	0.171215	0.49916	D	0.000134	T	0.78767	0.4335	L	0.58810	1.83	0.48975	D	0.999731	D	0.76494	0.999	D	0.65987	0.94	T	0.79215	-0.1895	10	0.72032	D	0.01	.	14.1659	0.65475	0.0:0.0:0.5261:0.4739	.	234	Q14145	KEAP1_HUMAN	W	234	ENSP00000171111:R234W;ENSP00000377245:R234W	ENSP00000171111:R234W	R	-	1	2	KEAP1	10463878	1.000000	0.71417	0.627000	0.29227	0.674000	0.39518	1.564000	0.36375	0.054000	0.16065	-0.277000	0.10078	CGG	KEAP1	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin		0.612	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KEAP1	HGNC	protein_coding	OTTHUMT00000452000.1	G	NM_012289		10602878	-1	no_errors	ENST00000171111	ensembl	human	known	70_37	missense	SNP	0.994	A
KIAA0020	9933	genome.wustl.edu	37	9	2804207	2804207	+	3'UTR	SNP	G	G	T			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr9:2804207G>T	ENST00000397885.2	-	0	2277					NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020							endoplasmic reticulum (GO:0005783)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CGTATACAAAGAAGAAACACA	0.348																																																	0																																										SO:0001624	3_prime_UTR_variant	9933			AL832239	CCDS6448.2	9p24.2	2012-11-29			ENSG00000080608	ENSG00000080608			29676	protein-coding gene	gene with protein product	"""penguin homolog (Drosophila)"", ""minor histocompatibility antigen HA-8"""	609960				7584026, 7584028, 21266351	Standard	NM_014878		Approved	XTP5, PEN, PUF6, hPUF-A, HA-8	uc003zhp.1	Q15397	OTTHUMG00000019450	ENST00000397885.2:c.*124C>A	9.37:g.2804207G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K804|Q547G7|Q5SZY9|Q6IB47|Q96B27|Q96L78|Q96L79|Q96L80	RNA	SNP	-	NULL	ENST00000397885.2	37	NULL	CCDS6448.2	9																																																																																			KIAA0020	-	-		0.348	KIAA0020-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0020	HGNC	protein_coding	OTTHUMT00000051529.3	G	NM_014878		2804207	-1	no_errors	ENST00000382032	ensembl	human	known	70_37	rna	SNP	0.010	T
KLHL33	123103	genome.wustl.edu	37	14	20897170	20897170	+	Silent	SNP	G	G	A			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr14:20897170G>A	ENST00000344581.4	-	4	1662	c.1440C>T	c.(1438-1440)ctC>ctT	p.L480L		NM_001109997.2	NP_001103467.2	A6NCF5	KLH33_HUMAN	kelch-like family member 33	480												all_cancers(95;0.00123)		Epithelial(56;7.57e-08)|all cancers(55;8.63e-07)	GBM - Glioblastoma multiforme(265;0.0223)|READ - Rectum adenocarcinoma(17;0.193)		TAAGGTGAGAGAGGGCATAAG	0.637																																																	0													72.0	77.0	75.0					14																	20897170		692	1591	2283	SO:0001819	synonymous_variant	123103				CCDS53882.1	14q11.2	2013-10-15	2013-02-22		ENSG00000185271	ENSG00000185271		"""Kelch-like"""	31952	protein-coding gene	gene with protein product			"""kelch-like 33 (Drosophila)"""				Standard	NM_001109997		Approved		uc010tli.2	A6NCF5	OTTHUMG00000170982	ENST00000344581.4:c.1440C>T	14.37:g.20897170G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,superfamily_BTB/POZ_fold,smart_BACK,smart_Kelch_1	p.L480	ENST00000344581.4	37	c.1440	CCDS53882.1	14																																																																																			KLHL33	-	smart_Kelch_1		0.637	KLHL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL33	HGNC	protein_coding	OTTHUMT00000411038.1	G	XM_063481		20897170	-1	no_errors	ENST00000344581	ensembl	human	known	70_37	silent	SNP	0.015	A
LINC00305	221241	genome.wustl.edu	37	18	61747526	61747526	+	lincRNA	SNP	G	G	A			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr18:61747526G>A	ENST00000323355.3	-	0	589					NR_027245.1		Q7Z4B0	CR020_HUMAN	long intergenic non-protein coding RNA 305							extracellular region (GO:0005576)											AACAGAAAACGTCATCCAGCT	0.428																																																	0													253.0	218.0	229.0					18																	61747526		692	1591	2283			221241			BC029565		18q22.1	2012-10-12	2011-08-10	2011-08-10	ENSG00000179676	ENSG00000179676		"""Long non-coding RNAs"""	28597	non-coding RNA	RNA, long non-coding			"""chromosome 18 open reading frame 20"", ""non-protein coding RNA 305"""	C18orf20, NCRNA00305		12477932	Standard	NR_027245		Approved	MGC39571, HsT1235	uc010dqk.2	Q7Z4B0	OTTHUMG00000060637		18.37:g.61747526G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NHR5	RNA	SNP	-	NULL	ENST00000323355.3	37	NULL		18																																																																																			LINC00305	-	-		0.428	LINC00305-001	KNOWN	basic	lincRNA	LINC00305	HGNC	lincRNA	OTTHUMT00000134071.2	G	NM_152728		61747526	-1	no_errors	ENST00000323355	ensembl	human	known	70_37	rna	SNP	0.000	A
USP27X	389856	genome.wustl.edu	37	X	49642957	49642957	+	5'Flank	DEL	T	T	-	rs369522979|rs372163314|rs5906887|rs375134493	byFrequency	TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chrX:49642957delT	ENST00000508866.2	+	0	0				USP27X-AS1_ENST00000437322.2_lincRNA	NM_001145073.1	NP_001138545.1	A6NNY8	UBP27_HUMAN	ubiquitin specific peptidase 27, X-linked						ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			endometrium(7)	7						GCTGCCCCCCTCCCCCGGGAT	0.622																																																	0																																										SO:0001631	upstream_gene_variant	158572			AW851065	CCDS65260.1	Xp11.23	2007-10-05	2005-08-08			ENSG00000273820		"""Ubiquitin-specific peptidases"""	13486	protein-coding gene	gene with protein product			"""ubiquitin specific protease 27, X chromosome"", ""ubiquitin specific protease 27, X-linked"""			12838346	Standard	NM_001145073		Approved	USP27	uc004dop.3	A6NNY8			X.37:g.49642957delT	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	DEL	-	NULL	ENST00000508866.2	37	NULL		X																																																																																			AF238380.5	-	-		0.622	USP27X-001	KNOWN	basic|appris_principal	protein_coding	LOC158572	Clone_based_vega_gene	protein_coding	OTTHUMT00000060837.3	T	XM_372213		49642957	-1	no_errors	ENST00000437322	ensembl	human	known	70_37	rna	DEL	0.000	-
LOC400553	400553	genome.wustl.edu	37	16	88124572	88124572	+	lincRNA	SNP	C	C	T			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr16:88124572C>T	ENST00000378417.1	-	0	542																											GGCGGCAGGGCGGGTTGTGTG	0.741																																																	0																																												400553																															16.37:g.88124572C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000378417.1	37	NULL		16																																																																																			RP11-863P13.4	-	-		0.741	RP11-863P13.4-001	KNOWN	basic	lincRNA	LOC400553	Clone_based_vega_gene	lincRNA	OTTHUMT00000430445.1	C			88124572	-1	no_errors	ENST00000378417	ensembl	human	known	70_37	rna	SNP	0.000	T
LINC00969	440993	genome.wustl.edu	37	3	195400814	195400815	+	lincRNA	INS	-	-	TT	rs371598334		TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr3:195400814_195400815insTT	ENST00000445430.1	+	0	1410_1411									long intergenic non-protein coding RNA 969																		ACCTGGTTGTCTGGTCAGGCAT	0.574																																																	0																																												440993			AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195400814_195400815insTT		Somatic		WXS	Illumina HiSeq	Phase_IV		Splice_Site	INS	-	NULL	ENST00000445430.1	37	c.NULL		3																																																																																			AC069513.3	-	-		0.574	LINC00969-038	KNOWN	basic	lincRNA	LOC440993	Clone_based_vega_gene	lincRNA	OTTHUMT00000341951.1	-			195400815	+1	no_errors	ENST00000414625	ensembl	human	known	70_37	splice_site_ins	INS	0.999:1.000	TT
MAP3K11	4296	genome.wustl.edu	37	11	65375232	65375232	+	Silent	SNP	C	C	T			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr11:65375232C>T	ENST00000530153.1	-	4	875	c.354G>A	c.(352-354)caG>caA	p.Q118Q	MAP3K11_ENST00000532507.1_5'Flank|MAP3K11_ENST00000309100.3_Silent_p.Q375Q|MAP3K11_ENST00000534432.1_5'Flank					mitogen-activated protein kinase kinase kinase 11											breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GCGCCTCCAACTGCTGCAGGA	0.652																																																	0													41.0	46.0	44.0					11																	65375232		2200	4297	6497	SO:0001819	synonymous_variant	4296				CCDS8107.1	11q13.1-q13.3	2011-06-09			ENSG00000173327	ENSG00000173327	2.7.10.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6850	protein-coding gene	gene with protein product		600050		MLK3, PTK1		9267807, 8183572	Standard	NM_002419		Approved	SPRK, MEKK11	uc001oew.3	Q16584	OTTHUMG00000166529	ENST00000530153.1:c.354G>A	11.37:g.65375232C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.Q375	ENST00000530153.1	37	c.1125		11																																																																																			MAP3K11	-	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.652	MAP3K11-004	PUTATIVE	basic|exp_conf	protein_coding	MAP3K11	HGNC	protein_coding	OTTHUMT00000390233.2	C			65375232	-1	no_errors	ENST00000309100	ensembl	human	known	70_37	silent	SNP	1.000	T
MCF2L	23263	genome.wustl.edu	37	13	113720424	113720424	+	Missense_Mutation	SNP	C	C	G	rs147786310	byFrequency	TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr13:113720424C>G	ENST00000375608.3	+	9	969	c.911C>G	c.(910-912)gCt>gGt	p.A304G	MCF2L_ENST00000434480.2_Missense_Mutation_p.A280G|MCF2L_ENST00000397030.1_Missense_Mutation_p.A307G|MCF2L_ENST00000421756.1_Missense_Mutation_p.A278G|MCF2L_ENST00000375604.2_Missense_Mutation_p.A331G|MCF2L_ENST00000423482.2_Missense_Mutation_p.A272G|MCF2L_ENST00000442652.2_Missense_Mutation_p.A304G|MCF2L_ENST00000375601.3_Missense_Mutation_p.A278G|MCF2L_ENST00000375597.4_Missense_Mutation_p.A272G|MCF2L_ENST00000535094.2_Missense_Mutation_p.A274G			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	304					apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GAGCTGCAGGCTGAGGGCTCA	0.632																																																	0													94.0	78.0	83.0					13																	113720424		2203	4300	6503	SO:0001583	missense	23263			AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.911C>G	13.37:g.113720424C>G	ENSP00000364758:p.Ala304Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.A331G	ENST00000375608.3	37	c.992		13	.	.	.	.	.	.	.	.	.	.	C	4.164	0.028889	0.08054	.	.	ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749	T;T;T;T;T;T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32;1.32	5.0	2.15	0.27550	.	0.437677	0.24557	N	0.037506	T	0.21062	0.0507	L	0.27053	0.805	0.09310	N	1	B;B;B;B;B;B	0.28208	0.125;0.125;0.203;0.129;0.029;0.077	B;B;B;B;B;B	0.32624	0.096;0.096;0.149;0.071;0.062;0.071	T	0.11690	-1.0577	10	0.28530	T	0.3	.	2.734	0.05235	0.1472:0.5476:0.143:0.1622	.	272;274;331;236;272;304	E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068	.;.;.;.;.;MCF2L_HUMAN	G	304;304;331;307;274;278;278;280;272;272;115	ENSP00000364758:A304G;ENSP00000401422:A304G;ENSP00000364754:A331G;ENSP00000380225:A307G;ENSP00000440374:A274G;ENSP00000397285:A278G;ENSP00000364751:A278G;ENSP00000407722:A280G;ENSP00000405639:A272G;ENSP00000364747:A272G	ENSP00000364747:A272G	A	+	2	0	MCF2L	112768425	0.583000	0.26757	0.107000	0.21349	0.009000	0.06853	1.176000	0.31957	0.520000	0.28426	0.561000	0.74099	GCT	MCF2L	-	NULL		0.632	MCF2L-001	KNOWN	basic	protein_coding	MCF2L	HGNC	protein_coding	OTTHUMT00000045849.4	C			113720424	+1	no_errors	ENST00000375604	ensembl	human	known	70_37	missense	SNP	0.010	G
MEGF9	1955	genome.wustl.edu	37	9	123374761	123374761	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr9:123374761C>T	ENST00000373930.3	-	4	1111	c.1000G>A	c.(1000-1002)Gaa>Aaa	p.E334K	MEGF9_ENST00000426959.1_Missense_Mutation_p.E371K	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	334	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.					integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						TAAAATCCTTCTTTACATTCT	0.373																																																	0													127.0	120.0	122.0					9																	123374761		1884	4119	6003	SO:0001583	missense	1955			AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"""EGF-like-domain, multiple 5"""	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.1000G>A	9.37:g.123374761C>T	ENSP00000363040:p.Glu334Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z315|O75098	Missense_Mutation	SNP	pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin	p.E371K	ENST00000373930.3	37	c.1111	CCDS48010.2	9	.	.	.	.	.	.	.	.	.	.	C	19.05	3.751684	0.69533	.	.	ENSG00000106780	ENST00000373930;ENST00000426959	T;T	0.61859	0.07;0.07	5.92	5.92	0.95590	.	0.530450	0.19330	N	0.116916	T	0.53769	0.1817	L	0.45352	1.415	0.38697	D	0.952891	P	0.40360	0.714	B	0.42245	0.381	T	0.54490	-0.8286	10	0.35671	T	0.21	-2.2152	13.7716	0.63029	0.0:0.9276:0.0:0.0724	.	371	C9J1K8	.	K	334;371	ENSP00000363040:E334K;ENSP00000392666:E371K	ENSP00000363040:E334K	E	-	1	0	MEGF9	122414582	0.981000	0.34729	1.000000	0.80357	0.958000	0.62258	1.956000	0.40382	2.822000	0.97130	0.650000	0.86243	GAA	MEGF9	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin		0.373	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEGF9	HGNC	protein_coding	OTTHUMT00000055513.1	C	NM_001080497		123374761	-1	no_errors	ENST00000426959	ensembl	human	known	70_37	missense	SNP	0.998	T
METTL12	751071	genome.wustl.edu	37	11	62432845	62432845	+	Intron	SNP	G	G	A			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr11:62432845G>A	ENST00000532971.1	+	1	24				C11orf48_ENST00000431002.2_Intron|C11orf48_ENST00000525675.1_5'Flank|RP11-831H9.11_ENST00000528405.1_5'Flank|C11orf48_ENST00000354588.3_Intron|SNORA57_ENST00000383870.1_RNA|C11orf48_ENST00000524958.1_5'Flank|C11orf48_ENST00000532208.1_Intron|METTL12_ENST00000398922.2_Intron	NM_001043229.1	NP_001036694.1	A8MUP2	MET12_HUMAN	methyltransferase like 12							mitochondrion (GO:0005739)	methyltransferase activity (GO:0008168)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						TTGGGCGGCCGGGAGTGGTGG	0.627																																																	0													5.0	6.0	6.0					11																	62432845		857	1957	2814	SO:0001627	intron_variant	751071			BC041359	CCDS41657.1	11q12.3	2013-09-30			ENSG00000214756	ENSG00000214756			33113	protein-coding gene	gene with protein product							Standard	NM_001043229		Approved	U99HG	uc001nuh.3	A8MUP2	OTTHUMG00000167545	ENST00000532971.1:c.-234+41G>A	11.37:g.62432845G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z4C1	RNA	SNP	-	NULL	ENST00000532971.1	37	NULL	CCDS41657.1	11																																																																																			METTL12	-	-		0.627	METTL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL12	HGNC	protein_coding	OTTHUMT00000394990.1	G	NM_001043229		62432845	+1	no_errors	ENST00000594728	ensembl	human	known	70_37	rna	SNP	0.000	A
KMT2D	8085	genome.wustl.edu	37	12	49432029	49432030	+	Frame_Shift_Ins	INS	-	-	G			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr12:49432029_49432030insG	ENST00000301067.7	-	34	9108_9109	c.9109_9110insC	c.(9109-9111)cacfs	p.H3037fs	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3037					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GTCATCCAAGTGGGGGTCATTG	0.515																																																	0																																										SO:0001589	frameshift_variant	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.9110dupC	12.37:g.49432034_49432034dupG	ENSP00000301067:p.His3037fs	Somatic		WXS	Illumina HiSeq	Phase_IV	O14687	Frame_Shift_Ins	INS	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.H3037fs	ENST00000301067.7	37	c.9110_9109	CCDS44873.1	12																																																																																			MLL2	-	NULL		0.515	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL2	HGNC	protein_coding	OTTHUMT00000390183.2	-			49432030	-1	no_errors	ENST00000301067	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	G
MT-ATP6	4508	genome.wustl.edu	37	M	8715	8715	+	Silent	SNP	T	T	C			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chrM:8715T>C	ENST00000361899.2	+	1	189	c.189T>C	c.(187-189)acT>acC	p.T63T	MT-TG_ENST00000387429.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-ND4L_ENST00000361335.1_5'Flank|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TR_ENST00000387439.1_RNA|MT-ND4_ENST00000361381.2_5'Flank|MT-TC_ENST00000387405.1_RNA|MT-CO3_ENST00000362079.2_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA			P00846	ATP6_HUMAN	mitochondrially encoded ATP synthase 6	63					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						ATACACAACACTAAAGGACGA	0.408																																																	0																																										SO:0001819	synonymous_variant	4508					mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198899	ENSG00000198899		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	7414	protein-coding gene	gene with protein product		516060	"""ATP synthase 6"", ""spicular retinitis pigmentosa with dementia, seizures, ataxia, proximal muscle weakness and sensory deficit"""	MTATP6, RP		7219534	Standard			Approved	ATP6, ATPase-6, Su6m		P00846		ENST00000361899.2:c.189T>C	M.37:g.8715T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q34772|Q5S8W5|Q5S9E7|Q5S9I6|Q5SA31|Q6RPB7|Q6VHC0|Q6VHE0|Q6WQF4|Q7YCC1|Q7YCF8|Q7YCG1|Q85KU8|Q85KX1|Q85L05|Q8HNQ4|Q8HNQ8|Q8WCX6|Q9B2U5|Q9B2Z2	Silent	SNP	pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu	p.T63	ENST00000361899.2	37	c.189		MT																																																																																			MT-ATP6	-	pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu		0.408	MT-ATP6-201	KNOWN	basic|appris_principal	protein_coding	MT-ATP6	HGNC	protein_coding		T	YP_003024031		8715	+1	no_errors	ENST00000361899	ensembl	human	known	70_37	silent	SNP	NULL	C
MT-ND5	4540	genome.wustl.edu	37	M	12552	12552	+	Silent	SNP	A	A	G			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chrM:12552A>G	ENST00000361567.2	+	1	216	c.216A>G	c.(214-216)caA>caG	p.Q72Q	MT-TG_ENST00000387429.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-CYB_ENST00000361789.2_5'Flank			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	72					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						GCCACAACCCAAACAACCCAG	0.418																																																	0																																										SO:0001819	synonymous_variant	4540					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.216A>G	M.37:g.12552A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q34773|Q8WCY3	Silent	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5	p.Q72	ENST00000361567.2	37	c.216		MT																																																																																			MT-ND5	-	pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5		0.418	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	MT-ND5	HGNC	protein_coding		A	YP_003024036		12552	+1	no_errors	ENST00000361567	ensembl	human	known	70_37	silent	SNP	NULL	G
MT-ND5	4540	genome.wustl.edu	37	M	12562	12562	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chrM:12562C>T	ENST00000361567.2	+	1	226	c.226C>T	c.(226-228)Ctc>Ttc	p.L76F	MT-TG_ENST00000387429.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TR_ENST00000387439.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TL2_ENST00000387456.1_RNA|MT-CYB_ENST00000361789.2_5'Flank			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	76					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						AAACAACCCAGCTCTCCCTAA	0.403																																																	0																																										SO:0001583	missense	4540					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.226C>T	M.37:g.12562C>T	ENSP00000354813:p.Leu76Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q34773|Q8WCY3	Missense_Mutation	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5	p.L76F	ENST00000361567.2	37	c.226		MT																																																																																			MT-ND5	-	pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5		0.403	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	MT-ND5	HGNC	protein_coding		C	YP_003024036		12562	+1	no_errors	ENST00000361567	ensembl	human	known	70_37	missense	SNP	NULL	T
MYL1	4632	genome.wustl.edu	37	2	211179766	211179766	+	Start_Codon_Del	DEL	T	T	-			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr2:211179766delT	ENST00000352451.3	-	0	148					NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast						cardiac muscle contraction (GO:0060048)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|sarcomere (GO:0030017)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		TTTGGTGCCATTTTTTTTTTT	0.527																																																	0										406,181,73,3588		24,5,3,350,0,0,176,1,68,1497	86.0	117.0	107.0			5.4	1.0	2	dbSNP_130	111	68,327,4,7851		0,1,0,67,0,0,326,0,4,3727	no	codingComplex	MYL1	NM_079420.2		24,6,3,417,0,0,502,1,72,5224	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		4.8364,15.5367,8.4734			211179766	474,508,77,11439	2199	4299	6498	SO:0001582	initiator_codon_variant	4632				CCDS2390.1, CCDS2391.1	2q33-q34	2013-01-10	2006-09-29		ENSG00000168530	ENSG00000168530		"""Myosins / Light chain"", ""EF-hand domain containing"""	7582	protein-coding gene	gene with protein product		160780	"""myosin, light polypeptide 1, alkali; skeletal, fast"""			2304459, 3422212	Standard	NM_079422		Approved		uc002vec.3	P05976	OTTHUMG00000132992		2.37:g.211179766delT		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R4N6|B2R4T6|P06741|Q6IBD5	Frame_Shift_Del	DEL	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.M1fs	ENST00000352451.3	37	c.1	CCDS2390.1	2																																																																																			MYL1	-	NULL		0.527	MYL1-001	KNOWN	basic|CCDS	protein_coding	MYL1	HGNC	protein_coding	OTTHUMT00000256566.2	T	NM_079420		211179766	-1	no_errors	ENST00000352451	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
NACAD	23148	genome.wustl.edu	37	7	45123257	45123257	+	Missense_Mutation	SNP	G	G	A	rs10276909	byFrequency	TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr7:45123257G>A	ENST00000490531.2	-	2	2541	c.2522C>T	c.(2521-2523)gCt>gTt	p.A841V		NM_001146334.1	NP_001139806.1	O15069	NACAD_HUMAN	NAC alpha domain containing	841					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(2)|skin(2)	5						CGGTGTCATAGCGGAGTCCTG	0.612																																																	0																																										SO:0001583	missense	23148			AB002361	CCDS47582.1	7p13	2010-07-14			ENSG00000136274	ENSG00000136274			22196	protein-coding gene	gene with protein product							Standard	NM_001146334		Approved	KIAA0363	uc003tmt.3	O15069	OTTHUMG00000159170	ENST00000490531.2:c.2522C>T	7.37:g.45123257G>A	ENSP00000420477:p.Ala841Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Nas_poly-pep-assoc_cplx,pfscan_Nas_poly-pep-assoc_cplx	p.A841V	ENST00000490531.2	37	c.2522	CCDS47582.1	7	.	.	.	.	.	.	.	.	.	.	G	6.371	0.436498	0.12104	.	.	ENSG00000136274	ENST00000490531	T	0.12039	2.72	2.72	1.63	0.23807	.	.	.	.	.	T	0.08626	0.0214	N	0.24115	0.695	0.80722	P	0.0	B	0.15141	0.012	B	0.09377	0.004	T	0.14364	-1.0475	8	0.45353	T	0.12	.	6.2957	0.21085	0.3166:0.0:0.6834:0.0	rs10276909;rs12539881	841	O15069	NACAD_HUMAN	V	841	ENSP00000420477:A841V	ENSP00000420477:A841V	A	-	2	0	NACAD	45089782	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-0.098000	0.11024	0.338000	0.23692	0.205000	0.17691	GCT	NACAD	-	NULL		0.612	NACAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NACAD	HGNC	protein_coding	OTTHUMT00000353652.2	G	NM_001146334		45123257	-1	no_errors	ENST00000490531	ensembl	human	known	70_37	missense	SNP	0.000	A
NPIPB7	440350	genome.wustl.edu	37	16	28468257	28468257	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr16:28468257G>A	ENST00000452313.1	-	7	841	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C	RP11-57A19.5_ENST00000602838.1_lincRNA			O75200	NPIB7_HUMAN	nuclear pore complex interacting protein family, member B7	245						extracellular region (GO:0005576)											GGTGGCTGGCGGCCCATCCTG	0.532																																																	0																																										SO:0001583	missense	440350			BC156858, AC002425		16p11.2	2013-06-11	2013-06-11	2013-06-11	ENSG00000233232	ENSG00000233232			33832	other	unknown			"""nuclear pore complex interacting protein-like 1"""	NPIPL1			Standard	NG_023370		Approved	LOC440350	uc010vcq.2	O75200	OTTHUMG00000156915	ENST00000452313.1:c.733C>T	16.37:g.28468257G>A	ENSP00000405348:p.Arg245Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	E7ERT9	Missense_Mutation	SNP	pfam_NPIP	p.R245C	ENST00000452313.1	37	c.733		16	.	.	.	.	.	.	.	.	.	.	N	9.101	1.004132	0.19199	.	.	ENSG00000233232	ENST00000452313	T	0.50277	0.75	.	.	.	.	.	.	.	.	T	0.60104	0.2243	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.71414	0.973	T	0.48514	-0.9029	6	0.62326	D	0.03	.	.	.	.	.	245	E7ERT9	.	C	245	ENSP00000405348:R245C	ENSP00000405348:R245C	R	-	1	0	NPIPL1	28375758	0.146000	0.22672	0.145000	0.22337	0.146000	0.21551	0.064000	0.14437	0.064000	0.16427	0.064000	0.15345	CGC	NPIPL1	-	pfam_NPIP		0.532	NPIPB7-001	NOVEL	basic|appris_principal	protein_coding	NPIPL1	HGNC	protein_coding	OTTHUMT00000346596.1	G	NG_023370		28468257	-1	no_errors	ENST00000452313	ensembl	human	novel	70_37	missense	SNP	0.146	A
NPIPB15	440348	genome.wustl.edu	37	16	74425961	74425961	+	Missense_Mutation	SNP	G	G	A	rs374113246		TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr16:74425961G>A	ENST00000429990.1	+	7	1411	c.1315G>A	c.(1315-1317)Gct>Act	p.A439T				A6NHN6	NPB15_HUMAN	nuclear pore complex interacting protein family, member B15	439						extracellular region (GO:0005576)											CAAAACCCACGCTCCAAAAAC	0.318																																																	0													1.0	1.0	1.0					16																	74425961		453	1185	1638	SO:0001583	missense	440348			BC160029		16q22.3	2013-06-11	2013-06-11	2013-06-11	ENSG00000196436	ENSG00000196436			34409	protein-coding gene	gene with protein product			"""nuclear pore complex interacting protein-like 2"""	NPIPL2			Standard	XM_005256273		Approved	LOC440348	uc010vmt.1	A6NHN6	OTTHUMG00000156916	ENST00000429990.1:c.1315G>A	16.37:g.74425961G>A	ENSP00000411140:p.Ala439Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	C9J9U8	Missense_Mutation	SNP	pfam_NPIP	p.A439T	ENST00000429990.1	37	c.1315		16	.	.	.	.	.	.	.	.	.	.	-	0.014	-1.587738	0.00872	.	.	ENSG00000196436	ENST00000504746;ENST00000429990	T	0.47869	0.83	.	.	.	.	.	.	.	.	T	0.22399	0.0540	N	0.08118	0	0.19300	N	0.999975	B	0.17465	0.022	B	0.04013	0.001	T	0.15350	-1.0440	8	0.49607	T	0.09	.	2.8176	0.05461	3.0E-4:3.0E-4:0.4997:0.4997	.	378	A6NHN6	NPPL2_HUMAN	T	303;439	ENSP00000411140:A439T	ENSP00000411140:A439T	A	+	1	0	NPIPL2	72983462	.	.	0.000000	0.03702	0.000000	0.00434	.	.	-0.000000	0.14550	0.000000	0.15137	GCT	NPIPL2	-	NULL		0.318	NPIPB15-001	KNOWN	basic|appris_principal	protein_coding	NPIPL2	HGNC	protein_coding	OTTHUMT00000346597.2	G	NM_001018059		74425961	+1	no_errors	ENST00000429990	ensembl	human	known	70_37	missense	SNP	0.974	A
NYX	60506	genome.wustl.edu	37	X	41333923	41333923	+	Missense_Mutation	SNP	C	C	T	rs34169326	byFrequency	TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chrX:41333923C>T	ENST00000342595.2	+	2	1673	c.1217C>T	c.(1216-1218)gCg>gTg	p.A406V	NYX_ENST00000378220.1_Missense_Mutation_p.A406V	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	406			A -> G (in dbSNP:rs34169326).		response to stimulus (GO:0050896)|visual perception (GO:0007601)	intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						CCAGAACCAGCGGCCACCACC	0.692																																																	0													17.0	19.0	18.0					X																	41333923		2191	4281	6472	SO:0001583	missense	60506			AF254868	CCDS14256.1	Xp11.4	2014-01-28			ENSG00000188937	ENSG00000188937			8082	protein-coding gene	gene with protein product		300278		CSNB1, CSNB4		11062471, 11062472	Standard	NM_022567		Approved	CLRP, CSNB1A	uc004dfh.2	Q9GZU5	OTTHUMG00000021370	ENST00000342595.2:c.1217C>T	X.37:g.41333923C>T	ENSP00000340328:p.Ala406Val	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWC0|Q2M1S4|Q5H983|Q9H4J0	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.A406V	ENST00000342595.2	37	c.1217	CCDS14256.1	X	.	.	.	.	.	.	.	.	.	.	C	0.289	-0.981483	0.02197	.	.	ENSG00000188937	ENST00000342595;ENST00000378220	T;T	0.59083	0.29;0.29	5.68	-1.34	0.09143	.	1.196500	0.06290	N	0.699036	T	0.43433	0.1247	L	0.45581	1.43	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.14727	-1.0462	10	0.26408	T	0.33	.	1.3461	0.02164	0.3843:0.1726:0.0899:0.3532	.	406	Q9GZU5	NYX_HUMAN	V	406	ENSP00000340328:A406V;ENSP00000367465:A406V	ENSP00000340328:A406V	A	+	2	0	NYX	41218867	0.000000	0.05858	0.003000	0.11579	0.149000	0.21700	-1.452000	0.02385	-0.860000	0.04099	-0.318000	0.08688	GCG	NYX	-	NULL		0.692	NYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NYX	HGNC	protein_coding	OTTHUMT00000056256.1	C	NM_022567		41333923	+1	no_errors	ENST00000342595	ensembl	human	known	70_37	missense	SNP	0.000	T
OAZ2	4947	genome.wustl.edu	37	15	64980915	64980915	+	Silent	SNP	G	G	A	rs201520056		TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr15:64980915G>A	ENST00000326005.6	-	6	790	c.558C>T	c.(556-558)tcC>tcT	p.S186S	OAZ2_ENST00000560837.1_5'Flank|OAZ2_ENST00000559753.1_Silent_p.S57S|OAZ2_ENST00000560258.2_3'UTR			O95190	OAZ2_HUMAN	ornithine decarboxylase antizyme 2	186					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|polyamine biosynthetic process (GO:0006596)|polyamine metabolic process (GO:0006595)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of protein catabolic process (GO:0045732)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	ornithine decarboxylase inhibitor activity (GO:0008073)									L-Ornithine(DB00129)	AGTCCTCATCGGACAAGTTCT	0.547																																																	0													46.0	44.0	45.0					15																	64980915		1917	4133	6050	SO:0001819	synonymous_variant	4947			AF057297	CCDS58372.1	15q22.31	2006-05-11				ENSG00000180304			8096	protein-coding gene	gene with protein product		604152				9782076, 10352227	Standard	NM_002537		Approved		uc002ano.2	O95190		ENST00000326005.6:c.558C>T	15.37:g.64980915G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_ODC_AZ,superfamily_Acyl_CoA_acyltransferase	p.S186	ENST00000326005.6	37	c.558	CCDS58372.1	15																																																																																			OAZ2	-	NULL		0.547	OAZ2-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	OAZ2	HGNC	protein_coding	OTTHUMT00000418707.2	G	NM_002537		64980915	-1	no_errors	ENST00000326005	ensembl	human	known	70_37	silent	SNP	0.936	A
OR10G8	219869	genome.wustl.edu	37	11	123901166	123901166	+	Silent	SNP	G	G	A	rs138666219	byFrequency	TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr11:123901166G>A	ENST00000431524.1	+	1	870	c.837G>A	c.(835-837)acG>acA	p.T279T		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		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;0.0521)		CTGTGCTGACGCCCCTTCTCA	0.493													G|||	2	0.000399361	0.0015	0.0	5008	,	,		19471	0.0		0.0	False		,,,				2504	0.0																0								G		3,4399	6.2+/-15.9	0,3,2198	127.0	120.0	122.0		837	-5.8	0.3	11	dbSNP_134	122	0,8598		0,0,4299	no	coding-synonymous	OR10G8	NM_001004464.1		0,3,6497	AA,AG,GG		0.0,0.0682,0.0231		279/312	123901166	3,12997	2201	4299	6500	SO:0001819	synonymous_variant	219869			AB065755	CCDS31704.1	11q24.1	2012-08-09			ENSG00000234560	ENSG00000234560		"""GPCR / Class A : Olfactory receptors"""	14845	protein-coding gene	gene with protein product							Standard	NM_001004464		Approved		uc001pzp.1	Q8NGN5	OTTHUMG00000165968	ENST00000431524.1:c.837G>A	11.37:g.123901166G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNJ3|Q6IEV2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T279	ENST00000431524.1	37	c.837	CCDS31704.1	11																																																																																			OR10G8	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.493	OR10G8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G8	HGNC	protein_coding	OTTHUMT00000387270.1	G	NM_001004464		123901166	+1	no_errors	ENST00000431524	ensembl	human	known	70_37	silent	SNP	0.051	A
OR2T8	343172	genome.wustl.edu	37	1	248084909	248084909	+	Missense_Mutation	SNP	T	T	G	rs34508376	byFrequency	TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr1:248084909T>G	ENST00000319968.4	+	1	590	c.590T>G	c.(589-591)aTg>aGg	p.M197R		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	197			M -> R (in dbSNP:rs4474294).			integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GAAAACGCCATGTACATCTGC	0.527													T|||	1511	0.301717	0.1029	0.4337	5008	,	,		14434	0.2778		0.4652	False		,,,				2504	0.3333																0													4.0	3.0	4.0					1																	248084909		1815	3480	5295	SO:0001583	missense	343172				CCDS31100.1	1q44	2012-08-09		2004-03-10	ENSG00000177462	ENSG00000177462		"""GPCR / Class A : Olfactory receptors"""	15020	protein-coding gene	gene with protein product				OR2T8P			Standard	XM_005273117		Approved		uc010pzc.2	A6NH00	OTTHUMG00000040205	ENST00000319968.4:c.590T>G	1.37:g.248084909T>G	ENSP00000326225:p.Met197Arg	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.M197R	ENST00000319968.4	37	c.590	CCDS31100.1	1	1010	0.4624542124542125	65	0.13211382113821138	233	0.643646408839779	209	0.36538461538461536	503	0.6635883905013192	T	14.19	2.460615	0.43736	.	.	ENSG00000177462	ENST00000319968	T	0.00130	8.69	3.56	1.06	0.20224	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42682	U	0.000672	T	0.00012	0.0000	L	0.54323	1.7	0.80722	P	0.0	D	0.57899	0.981	D	0.65987	0.94	T	0.13255	-1.0516	9	0.72032	D	0.01	.	4.6079	0.12387	0.1689:0.1007:0.0:0.7304	rs34508376	197	A6NH00	OR2T8_HUMAN	R	197	ENSP00000326225:M197R	ENSP00000326225:M197R	M	+	2	0	OR2T8	246151532	0.000000	0.05858	0.009000	0.14445	0.396000	0.30629	-0.130000	0.10498	0.012000	0.14892	0.332000	0.21555	ATG	OR2T8	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.527	OR2T8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T8	HGNC	protein_coding	OTTHUMT00000096862.1	T	NM_001005522		248084909	+1	no_errors	ENST00000319968	ensembl	human	known	70_37	missense	SNP	0.000	G
OR8K3	219473	genome.wustl.edu	37	11	56085805	56085805	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr11:56085805C>T	ENST00000312711.1	+	1	23	c.23C>T	c.(22-24)aCg>aTg	p.T8M		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	8						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					AATCTAACAACGGTGAATGAA	0.413																																																	0													123.0	113.0	116.0					11																	56085805		2201	4295	6496	SO:0001583	missense	219473			AB065541	CCDS31527.1	11q11	2012-08-09			ENSG00000181689	ENSG00000181689		"""GPCR / Class A : Olfactory receptors"""	15313	protein-coding gene	gene with protein product							Standard	NM_001005202		Approved		uc010rjf.2	Q8NH51	OTTHUMG00000166855	ENST00000312711.1:c.23C>T	11.37:g.56085805C>T	ENSP00000323555:p.Thr8Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IFC4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T8M	ENST00000312711.1	37	c.23	CCDS31527.1	11	.	.	.	.	.	.	.	.	.	.	C	8.421	0.846388	0.16963	.	.	ENSG00000181689	ENST00000312711	T	0.19806	2.12	5.36	0.949	0.19566	.	1.375110	0.04605	N	0.399295	T	0.11452	0.0279	N	0.16656	0.425	0.09310	N	1	B	0.11235	0.004	B	0.09377	0.004	T	0.30208	-0.9986	10	0.30078	T	0.28	.	0.455	0.00507	0.1757:0.229:0.1823:0.413	.	8	Q8NH51	OR8K3_HUMAN	M	8	ENSP00000323555:T8M	ENSP00000323555:T8M	T	+	2	0	OR8K3	55842381	0.000000	0.05858	0.003000	0.11579	0.010000	0.07245	-1.038000	0.03553	0.380000	0.24823	-0.321000	0.08615	ACG	OR8K3	-	NULL		0.413	OR8K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K3	HGNC	protein_coding	OTTHUMT00000391602.1	C	NM_001005202		56085805	+1	no_errors	ENST00000312711	ensembl	human	known	70_37	missense	SNP	0.001	T
PCDHGA2	56113	genome.wustl.edu	37	5	140720392	140720392	+	Silent	SNP	G	G	A			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr5:140720392G>A	ENST00000394576.2	+	1	1854	c.1854G>A	c.(1852-1854)tcG>tcA	p.S618S	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1	Q9Y5H1	PCDG2_HUMAN	protocadherin gamma subfamily A, 2	618	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTCTTCTCGGTGGGTCTGC	0.677																																																	0													38.0	46.0	43.0					5																	140720392		2195	4294	6489	SO:0001819	synonymous_variant	56113			AF152508	CCDS47289.1	5q31	2011-03-28			ENSG00000081853	ENSG00000081853		"""Cadherins / Protocadherins : Clustered"""	8700	other	protocadherin		606289				10380929	Standard	NM_018915		Approved	PCDH-GAMMA-A2		Q9Y5H1	OTTHUMG00000163679	ENST00000394576.2:c.1854G>A	5.37:g.140720392G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q52LL6|Q9Y5D5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.S618	ENST00000394576.2	37	c.1854	CCDS47289.1	5																																																																																			PCDHGA2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.677	PCDHGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA2	HGNC	protein_coding	OTTHUMT00000374738.1	G	NM_018915		140720392	+1	no_errors	ENST00000394576	ensembl	human	known	70_37	silent	SNP	0.000	A
PER3	8863	genome.wustl.edu	37	1	7897139	7897139	+	Frame_Shift_Del	DEL	A	A	-			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr1:7897139delA	ENST00000361923.2	+	20	3627	c.3452delA	c.(3451-3453)caafs	p.Q1151fs	PER3_ENST00000377532.3_Frame_Shift_Del_p.Q1160fs	NM_016831.1	NP_058515.1	P56645	PER3_HUMAN	period circadian clock 3	1151	CRY binding domain. {ECO:0000250}.				circadian regulation of gene expression (GO:0032922)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of circadian sleep/wake cycle, sleep (GO:0045187)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCATGGGCAAAAGGAGGAG	0.408																																																	0													67.0	64.0	65.0					1																	7897139		2203	4300	6503	SO:0001589	frameshift_variant	8863			BC026102	CCDS89.1, CCDS72695.1	1p36.23	2012-12-13	2012-12-13		ENSG00000049246	ENSG00000049246			8847	protein-coding gene	gene with protein product		603427	"""period (Drosophila) homolog 3"", ""period homolog 3 (Drosophila)"""			9427249	Standard	XM_005263520		Approved		uc001aoo.3	P56645	OTTHUMG00000001216	ENST00000361923.2:c.3452delA	1.37:g.7897139delA	ENSP00000355031:p.Gln1151fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5H8X4|Q5H8X5|Q969K6|Q96S77|Q96S78|Q9C0J3|Q9NSP9|Q9UGU8	Frame_Shift_Del	DEL	pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS	p.K1152fs	ENST00000361923.2	37	c.3452	CCDS89.1	1																																																																																			PER3	-	pfam_Period_circadian-like_C		0.408	PER3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PER3	HGNC	protein_coding	OTTHUMT00000003607.1	A	NM_016831		7897139	+1	no_errors	ENST00000361923	ensembl	human	known	70_37	frame_shift_del	DEL	0.998	-
PEAR1	375033	genome.wustl.edu	37	1	156883832	156883832	+	Missense_Mutation	SNP	C	C	T	rs528435112		TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr1:156883832C>T	ENST00000338302.3	+	23	3127	c.2902C>T	c.(2902-2904)Cgg>Tgg	p.R968W	PEAR1_ENST00000292357.7_Missense_Mutation_p.R968W			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	968	Pro-rich.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCAGAGGCGGCGGCAACCCCA	0.662													C|||	1	0.000199681	0.0	0.0	5008	,	,		15296	0.0		0.0	False		,,,				2504	0.001																0													15.0	21.0	19.0					1																	156883832		2203	4298	6501	SO:0001583	missense	375033			AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"""multiple EGF-like-domains 12"""	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.2902C>T	1.37:g.156883832C>T	ENSP00000344465:p.Arg968Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TEK2	Missense_Mutation	SNP	pfam_EGF_laminin,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain	p.R968W	ENST00000338302.3	37	c.2902	CCDS30892.1	1	.	.	.	.	.	.	.	.	.	.	C	4.973	0.180650	0.09443	.	.	ENSG00000187800	ENST00000338302;ENST00000292357	D;D	0.89123	-2.47;-2.47	5.28	4.33	0.51752	.	0.983138	0.08275	N	0.970819	T	0.69708	0.3141	N	0.22421	0.69	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.63440	-0.6637	10	0.46703	T	0.11	.	8.9971	0.36059	0.0:0.8904:0.0:0.1096	.	968	Q5VY43	PEAR1_HUMAN	W	968	ENSP00000344465:R968W;ENSP00000292357:R968W	ENSP00000292357:R968W	R	+	1	2	PEAR1	155150456	0.006000	0.16342	0.185000	0.23176	0.019000	0.09904	1.461000	0.35255	1.133000	0.42147	-0.345000	0.07892	CGG	PEAR1	-	NULL		0.662	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEAR1	HGNC	protein_coding	OTTHUMT00000098937.2	C	NM_001080471		156883832	+1	no_errors	ENST00000292357	ensembl	human	known	70_37	missense	SNP	0.015	T
PLD1	5337	genome.wustl.edu	37	3	171406586	171406586	+	Silent	SNP	C	C	T			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr3:171406586C>T	ENST00000351298.4	-	14	1545	c.1419G>A	c.(1417-1419)tcG>tcA	p.S473S	PLD1_ENST00000356327.5_Silent_p.S473S|PLD1_ENST00000342215.6_Silent_p.S473S|PLD1_ENST00000340989.4_Silent_p.S473S	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	473	Catalytic.|PLD phosphodiesterase 1. {ECO:0000255|PROSITE-ProRule:PRU00153}.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CAAAGGCCACCGATTGGTCAA	0.537																																					NSCLC(149;2174 3517 34058)												0													122.0	100.0	108.0					3																	171406586		2203	4300	6503	SO:0001819	synonymous_variant	5337			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.1419G>A	3.37:g.171406586C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase	p.S473	ENST00000351298.4	37	c.1419	CCDS3216.1	3																																																																																			PLD1	-	pfam_PLipase_D/transphosphatidylase,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_PLipase_D/transphosphatidylase		0.537	PLD1-001	KNOWN	basic|CCDS	protein_coding	PLD1	HGNC	protein_coding	OTTHUMT00000346730.2	C	NM_002662		171406586	-1	no_errors	ENST00000351298	ensembl	human	known	70_37	silent	SNP	0.054	T
PLEC	5339	genome.wustl.edu	37	8	144995513	144995513	+	Missense_Mutation	SNP	C	C	T	rs371422018		TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr8:144995513C>T	ENST00000322810.4	-	32	9056	c.8887G>A	c.(8887-8889)Gtg>Atg	p.V2963M	PLEC_ENST00000345136.3_Missense_Mutation_p.V2826M|PLEC_ENST00000357649.2_Missense_Mutation_p.V2830M|PLEC_ENST00000356346.3_Missense_Mutation_p.V2812M|PLEC_ENST00000436759.2_Missense_Mutation_p.V2853M|PLEC_ENST00000354958.2_Missense_Mutation_p.V2804M|PLEC_ENST00000354589.3_Missense_Mutation_p.V2826M|PLEC_ENST00000527096.1_Missense_Mutation_p.V2849M|PLEC_ENST00000398774.2_Missense_Mutation_p.V2794M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2963	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCACGTCCACGGGCACGCGG	0.687																																																	0								C	MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL,MET/VAL	1,3979		0,1,1989	58.0	63.0	61.0		8557,8434,8410,8887,8380,8476,8488,8476	4.9	1.0	8		61	0,8290		0,0,4145	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	21,21,21,21,21,21,21,21	0,1,6134	TT,TC,CC		0.0,0.0251,0.0081	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	2853/4575,2812/4534,2804/4526,2963/4685,2794/4516,2826/4548,2830/4552,2826/4548	144995513	1,12269	1990	4145	6135	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.8887G>A	8.37:g.144995513C>T	ENSP00000323856:p.Val2963Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.V2963M	ENST00000322810.4	37	c.8887	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	C	10.78	1.447383	0.25987	2.51E-4	0.0	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.77877	-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13;-1.13	4.95	4.95	0.65309	.	0.511841	0.16298	U	0.220596	D	0.84160	0.5411	M	0.81112	2.525	0.32179	N	0.580578	D;D;D;D;D;D;D;D	0.69078	0.996;0.996;0.996;0.997;0.996;0.996;0.996;0.996	P;P;P;P;P;P;P;P	0.54060	0.623;0.623;0.623;0.741;0.623;0.623;0.623;0.623	D	0.87474	0.2416	10	0.87932	D	0	.	11.7306	0.51735	0.0:0.9171:0.0:0.0829	.	2853;2812;2804;2963;2794;2826;2830;2826	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	M	2826;2830;2826;2794;2963;2804;2812;2853;2849	ENSP00000344848:V2826M;ENSP00000350277:V2830M;ENSP00000346602:V2826M;ENSP00000381756:V2794M;ENSP00000323856:V2963M;ENSP00000347044:V2804M;ENSP00000348702:V2812M;ENSP00000388180:V2853M;ENSP00000434583:V2849M	ENSP00000323856:V2963M	V	-	1	0	PLEC	145067501	0.098000	0.21812	1.000000	0.80357	0.725000	0.41563	0.617000	0.24359	2.479000	0.83701	0.456000	0.33151	GTG	PLEC	-	pfam_Plectin_repeat,smart_Plectin_repeat		0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		144995513	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	1.000	T
PTAFR	5724	genome.wustl.edu	37	1	28476617	28476617	+	Nonsense_Mutation	SNP	C	C	A			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr1:28476617C>A	ENST00000373857.3	-	2	1550	c.916G>T	c.(916-918)Gaa>Taa	p.E306*	PTAFR_ENST00000305392.3_Nonsense_Mutation_p.E306*|PTAFR_ENST00000539896.1_Nonsense_Mutation_p.E306*	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	306					chemotaxis (GO:0006935)|cytokine production (GO:0001816)|cytokine-mediated signaling pathway (GO:0019221)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|inositol trisphosphate biosynthetic process (GO:0032959)|interferon-gamma-mediated signaling pathway (GO:0060333)|phosphatidylinositol-mediated signaling (GO:0048015)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipopolysaccharide binding (GO:0001530)|lipopolysaccharide receptor activity (GO:0001875)|phospholipid binding (GO:0005543)|platelet activating factor receptor activity (GO:0004992)	p.E306K(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		TAGAACTTTTCGGTGAGGTGC	0.527																																																	1	Substitution - Missense(1)	endometrium(1)											117.0	115.0	116.0					1																	28476617		2203	4300	6503	SO:0001587	stop_gained	5724			BC063000	CCDS318.1	1p35-p34.3	2012-08-20			ENSG00000169403	ENSG00000169403		"""GPCR / Class A : Platelet-activating factor receptors"""	9582	protein-coding gene	gene with protein product		173393				1322356	Standard	NM_001164721		Approved		uc001bpl.3	P25105	OTTHUMG00000003953	ENST00000373857.3:c.916G>T	1.37:g.28476617C>A	ENSP00000362965:p.Glu306*	Somatic		WXS	Illumina HiSeq	Phase_IV	A3KMC8|A8K2H5	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_PAF_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.E306*	ENST00000373857.3	37	c.916	CCDS318.1	1	.	.	.	.	.	.	.	.	.	.	C	38	7.077407	0.98048	.	.	ENSG00000169403	ENST00000373857;ENST00000539896;ENST00000305392	.	.	.	5.38	4.46	0.54185	.	0.460694	0.24587	N	0.037254	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.877	0.79173	0.0:0.7448:0.2552:0.0	.	.	.	.	X	306	.	ENSP00000301974:E306X	E	-	1	0	PTAFR	28349204	0.518000	0.26234	0.106000	0.21319	0.388000	0.30384	1.769000	0.38522	1.262000	0.44165	0.563000	0.77884	GAA	PTAFR	-	prints_PAF_rcpt		0.527	PTAFR-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PTAFR	HGNC	protein_coding	OTTHUMT00000011258.1	C	NM_000952		28476617	-1	no_errors	ENST00000305392	ensembl	human	known	70_37	nonsense	SNP	0.523	A
RALGAPA2	57186	genome.wustl.edu	37	20	20621380	20621380	+	Missense_Mutation	SNP	T	T	A			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr20:20621380T>A	ENST00000202677.7	-	6	522	c.515A>T	c.(514-516)gAg>gTg	p.E172V		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	172					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GATGAGTGTCTCCAGTGTGCA	0.468																																																	0													100.0	100.0	100.0					20																	20621380		1922	4135	6057	SO:0001583	missense	57186			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.515A>T	20.37:g.20621380T>A	ENSP00000202677:p.Glu172Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP	p.E172V	ENST00000202677.7	37	c.515	CCDS46584.1	20	.	.	.	.	.	.	.	.	.	.	T	17.52	3.411197	0.62399	.	.	ENSG00000188559	ENST00000202677;ENST00000424981;ENST00000424490;ENST00000438161	T;T;T	0.78481	-1.18;-1.18;-1.18	5.62	5.62	0.85841	.	0.112845	0.64402	U	0.000020	T	0.69260	0.3091	L	0.29908	0.895	0.51012	D	0.999905	B	0.18166	0.026	B	0.15052	0.012	T	0.65784	-0.6084	10	0.52906	T	0.07	.	15.8247	0.78690	0.0:0.0:0.0:1.0	.	172	Q2PPJ7	RGPA2_HUMAN	V	172;24;24;172	ENSP00000202677:E172V;ENSP00000400901:E24V;ENSP00000412795:E172V	ENSP00000202677:E172V	E	-	2	0	RALGAPA2	20569380	1.000000	0.71417	1.000000	0.80357	0.624000	0.37722	7.520000	0.81821	2.151000	0.67156	0.482000	0.46254	GAG	RALGAPA2	-	NULL		0.468	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGAPA2	HGNC	protein_coding	OTTHUMT00000471941.1	T	NM_020343		20621380	-1	no_errors	ENST00000202677	ensembl	human	known	70_37	missense	SNP	1.000	A
RPS6KA2	6196	genome.wustl.edu	37	6	166826326	166826326	+	Missense_Mutation	SNP	G	G	A	rs555832127		TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr6:166826326G>A	ENST00000265678.4	-	21	2349	c.2126C>T	c.(2125-2127)cCg>cTg	p.P709L	RPS6KA2_ENST00000405189.3_Missense_Mutation_p.P620L|RPS6KA2_ENST00000481261.2_Missense_Mutation_p.P620L|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.P717L|RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000510118.1_Missense_Mutation_p.P734L	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	709					axon guidance (GO:0007411)|brain renin-angiotensin system (GO:0002035)|cardiac muscle cell apoptotic process (GO:0010659)|cellular response to carbohydrate stimulus (GO:0071322)|heart contraction (GO:0060047)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|negative regulation of meiosis (GO:0045835)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oocyte maturation (GO:0001556)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of gene expression (GO:0010628)|regulation of protein processing (GO:0070613)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ribosomal protein S6 kinase activity (GO:0004711)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05)		CTCCAGCCGCGGGGCCTGAGG	0.647													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16076	0.0		0.0	False		,,,				2504	0.0																0													28.0	30.0	29.0					6																	166826326		2190	4289	6479	SO:0001583	missense	6196			L07598	CCDS5294.1, CCDS34570.1	6q27	2011-04-05	2002-08-29		ENSG00000071242	ENSG00000071242			10431	protein-coding gene	gene with protein product		601685	"""ribosomal protein S6 kinase, 90kD, polypeptide 2"""			8141249	Standard	NM_001006932		Approved	RSK, RSK3, HU-2	uc003qvc.1	Q15349	OTTHUMG00000016007	ENST00000265678.4:c.2126C>T	6.37:g.166826326G>A	ENSP00000265678:p.Pro709Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KTK9|Q15419|Q59GJ3|Q5TI68|Q96J38|Q9UJN5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P734L	ENST00000265678.4	37	c.2201	CCDS5294.1	6	.	.	.	.	.	.	.	.	.	.	G	17.88	3.497614	0.64186	.	.	ENSG00000071242	ENST00000265678;ENST00000510118;ENST00000503859;ENST00000481261;ENST00000405189	T;T;T;T;T	0.38722	1.12;1.12;1.12;1.12;1.12	4.38	4.38	0.52667	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.57858	0.2082	M	0.84683	2.71	0.80722	D	1	B;B;D	0.89917	0.055;0.091;1.0	B;B;D	0.74023	0.02;0.03;0.982	T	0.59252	-0.7489	10	0.22706	T	0.39	.	16.3563	0.83236	0.0:0.0:1.0:0.0	.	734;717;709	F2Z2J1;Q15349-3;Q15349	.;.;KS6A2_HUMAN	L	709;734;717;620;620	ENSP00000265678:P709L;ENSP00000422435:P734L;ENSP00000427015:P717L;ENSP00000422484:P620L;ENSP00000386050:P620L	ENSP00000265678:P709L	P	-	2	0	RPS6KA2	166746316	1.000000	0.71417	0.974000	0.42286	0.977000	0.68977	8.676000	0.91199	2.168000	0.68352	0.558000	0.71614	CCG	RPS6KA2	-	superfamily_Kinase-like_dom,pirsf_Ribosomal_S6_kinase_II		0.647	RPS6KA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA2	HGNC	protein_coding	OTTHUMT00000043075.3	G	NM_021135		166826326	-1	no_errors	ENST00000510118	ensembl	human	known	70_37	missense	SNP	0.997	A
SHANK2	22941	genome.wustl.edu	37	11	70333726	70333726	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr11:70333726G>A	ENST00000423696.2	-	15	1571	c.1535C>T	c.(1534-1536)cCg>cTg	p.P512L	SHANK2_ENST00000449833.2_Missense_Mutation_p.P296L|SHANK2_ENST00000409161.1_Missense_Mutation_p.P295L|SHANK2_ENST00000338508.4_Missense_Mutation_p.P892L			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	512	Pro-rich.				adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CACAGACTGCGGTGGAGGGGG	0.587																																																	0													36.0	34.0	34.0					11																	70333726		2200	4294	6494	SO:0001583	missense	22941			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.1535C>T	11.37:g.70333726G>A	ENSP00000394536:p.Pro512Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.P892L	ENST00000423696.2	37	c.2675		11	.	.	.	.	.	.	.	.	.	.	G	21.9	4.219768	0.79464	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;D;T;T	0.85484	-0.88;-0.93;-0.32;-1.99;-0.73;-0.69	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.91788	0.7402	M	0.69523	2.12	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.994;1.0;0.998	D	0.92669	0.6148	10	0.62326	D	0.03	.	17.6668	0.88205	0.0:0.0:1.0:0.0	.	512;891;296	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	L	296;295;170;892;512;530;515	ENSP00000399423:P296L;ENSP00000386491:P295L;ENSP00000402944:P170L;ENSP00000345193:P892L;ENSP00000394536:P512L;ENSP00000294018:P515L	ENSP00000294018:P515L	P	-	2	0	SHANK2	70011374	1.000000	0.71417	0.090000	0.20809	0.799000	0.45148	9.151000	0.94674	2.168000	0.68352	0.655000	0.94253	CCG	SHANK2	-	NULL		0.587	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	HGNC	protein_coding		G	NM_012309		70333726	-1	no_errors	ENST00000338508	ensembl	human	known	70_37	missense	SNP	0.996	A
SNHG14	104472715	genome.wustl.edu	37	15	25474139	25474139	+	RNA	SNP	G	G	T	rs369979609		TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr15:25474139G>T	ENST00000453082.2	+	0	1370				SNORD115-31_ENST00000365318.1_RNA|SNORD115-32_ENST00000364079.1_RNA|SNORD115-33_ENST00000363723.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		ACCTGATATTGCCCTGAAGAG	0.493																																																	0													315.0	342.0	334.0					15																	25474139		874	1991	2865			100033806					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25474139G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000453082.2	37	NULL		15																																																																																			SNORD115-32	-	-		0.493	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	SNORD115-32	HGNC	processed_transcript	OTTHUMT00000126730.2	G			25474139	+1	no_errors	ENST00000364079	ensembl	human	known	70_37	rna	SNP	0.001	T
SOGA3	387104	genome.wustl.edu	37	6	127797184	127797184	+	Missense_Mutation	SNP	C	C	T			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr6:127797184C>T	ENST00000525778.1	-	6	2732	c.1987G>A	c.(1987-1989)Gtg>Atg	p.V663M	SOGA3_ENST00000368268.2_Missense_Mutation_p.V663M|SOGA3_ENST00000556132.1_Missense_Mutation_p.V663M|SOGA3_ENST00000465909.2_Missense_Mutation_p.V663M|SOGA3_ENST00000474293.2_5'Flank|SOGA3_ENST00000481848.2_Missense_Mutation_p.V663M			Q5TF21	SOGA3_HUMAN	SOGA family member 3	663					regulation of autophagy (GO:0010506)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)											AGGTCGGCCACGTTCCTCCGC	0.652																																																	0													54.0	59.0	58.0					6																	127797184		2190	4285	6475	SO:0001583	missense	387104			AK096490	CCDS43505.1	6q22.33	2013-03-28	2012-02-27	2012-02-27	ENSG00000214338	ENSG00000214338			21494	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 174"""	C6orf174			Standard	NM_001012279		Approved	dJ403A15.3	uc003qbd.3	Q5TF21	OTTHUMG00000166438	ENST00000525778.1:c.1987G>A	6.37:g.127797184C>T	ENSP00000434570:p.Val663Met	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_DUF3166	p.V663M	ENST00000525778.1	37	c.1987	CCDS43505.1	6	.	.	.	.	.	.	.	.	.	.	C	16.28	3.080052	0.55753	.	.	ENSG00000214338	ENST00000556132;ENST00000368268;ENST00000525778;ENST00000465909	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.22	4.26	0.50523	.	0.137184	0.48767	D	0.000173	T	0.24928	0.0605	N	0.08118	0	0.39024	D	0.959807	D	0.69078	0.997	D	0.66084	0.941	T	0.19128	-1.0315	10	0.54805	T	0.06	-25.6109	11.4333	0.50054	0.1883:0.7024:0.1093:0.0	.	663	Q5TF21	CF174_HUMAN	M	663	ENSP00000451768:V663M;ENSP00000357251:V663M;ENSP00000434570:V663M;ENSP00000435559:V663M	ENSP00000435559:V663M	V	-	1	0	C6orf174	127838877	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	0.554000	0.23407	2.445000	0.82738	0.561000	0.74099	GTG	SOGA3	-	pfam_DUF3166		0.652	SOGA3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SOGA3	HGNC	protein_coding	OTTHUMT00000388246.1	C	NM_001012279		127797184	-1	no_errors	ENST00000368268	ensembl	human	known	70_37	missense	SNP	1.000	T
SYT4	6860	genome.wustl.edu	37	18	40853812	40853812	+	Silent	SNP	G	G	T			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr18:40853812G>T	ENST00000255224.3	-	2	950	c.582C>A	c.(580-582)atC>atA	p.I194I	SYT4_ENST00000590752.1_Silent_p.I176I|SYT4_ENST00000586678.1_Intron	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	194	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Phospholipid binding. {ECO:0000305}.				exocytosis (GO:0006887)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of vesicle fusion (GO:0031339)|neurotransmitter secretion (GO:0007269)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						TCGTCATTTTGATATATGGGT	0.433																																					NSCLC(85;81 1419 2855 22820 35912)												0													84.0	82.0	83.0					18																	40853812		2203	4300	6503	SO:0001819	synonymous_variant	6860			BC036538	CCDS11922.1	18q12.3	2013-01-21			ENSG00000132872	ENSG00000132872		"""Synaptotagmins"""	11512	protein-coding gene	gene with protein product		600103				8058779	Standard	NM_020783		Approved	KIAA1342, HsT1192	uc002law.3	Q9H2B2	OTTHUMG00000132610	ENST00000255224.3:c.582C>A	18.37:g.40853812G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DEU3|Q9P2K4	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin	p.I194	ENST00000255224.3	37	c.582	CCDS11922.1	18																																																																																			SYT4	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.433	SYT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT4	HGNC	protein_coding	OTTHUMT00000255851.2	G	NM_020783		40853812	-1	no_errors	ENST00000255224	ensembl	human	known	70_37	silent	SNP	1.000	T
TENM2	57451	genome.wustl.edu	37	5	167674346	167674346	+	Silent	SNP	C	C	T			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr5:167674346C>T	ENST00000518659.1	+	27	6441	c.6402C>T	c.(6400-6402)gtC>gtT	p.V2134V	TENM2_ENST00000403607.2_Silent_p.V1958V|TENM2_ENST00000545108.1_Silent_p.V2133V|TENM2_ENST00000520394.1_Silent_p.V1895V|TENM2_ENST00000519204.1_Silent_p.V2013V	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	2134					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										AGTTTGGAGTCATCTATTATG	0.498																																																	0													138.0	137.0	137.0					5																	167674346		2025	4167	6192	SO:0001819	synonymous_variant	57451			AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.6402C>T	5.37:g.167674346C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9ULU2	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core	p.V2134	ENST00000518659.1	37	c.6402		5																																																																																			TENM2	-	superfamily_ConA-like_lec_gl_sf		0.498	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	TENM2	HGNC	protein_coding	OTTHUMT00000376096.1	C	NM_001122679		167674346	+1	no_errors	ENST00000518659	ensembl	human	known	70_37	silent	SNP	1.000	T
TMEM98	26022	genome.wustl.edu	37	17	31267987	31267987	+	Silent	SNP	C	C	T			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr17:31267987C>T	ENST00000579849.1	+	8	1088	c.657C>T	c.(655-657)ttC>ttT	p.F219F	TMEM98_ENST00000394642.3_Silent_p.F219F|TMEM98_ENST00000578289.1_Intron	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	219						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			CTGAAGGCTTCCTGCAGGAGC	0.562																																																	0													25.0	25.0	25.0					17																	31267987		2203	4300	6503	SO:0001819	synonymous_variant	26022			CR605381	CCDS11274.1	17q11.2	2005-12-16			ENSG00000006042	ENSG00000006042			24529	protein-coding gene	gene with protein product		615949				11230166	Standard	NM_001301746		Approved	DKFZP564K1964	uc002hhr.3	Q9Y2Y6	OTTHUMG00000132882	ENST00000579849.1:c.657C>T	17.37:g.31267987C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	E1P631|Q9UFK2	Silent	SNP	NULL	p.F219	ENST00000579849.1	37	c.657	CCDS11274.1	17																																																																																			TMEM98	-	NULL		0.562	TMEM98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM98	HGNC	protein_coding	OTTHUMT00000256372.2	C	NM_015544		31267987	+1	no_errors	ENST00000394642	ensembl	human	known	70_37	silent	SNP	1.000	T
TTLL5	23093	genome.wustl.edu	37	14	76420881	76420882	+	3'UTR	INS	-	-	T	rs368697896		TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr14:76420881_76420882insT	ENST00000298832.9	+	0	4143_4144					NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5						fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		GGTCCATAGTATTTTTTTTTTT	0.46																																																	0																																										SO:0001624	3_prime_UTR_variant	23093			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.*93->T	14.37:g.76420892_76420892dupT		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	RNA	INS	-	NULL	ENST00000298832.9	37	NULL	CCDS32124.1	14																																																																																			TTLL5	-	-		0.460	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL5	HGNC	protein_coding	OTTHUMT00000414453.1	-	NM_015072		76420882	+1	no_errors	ENST00000554972	ensembl	human	known	70_37	rna	INS	0.000:0.005	T
UBR4	23352	genome.wustl.edu	37	1	19480331	19480331	+	Silent	SNP	C	C	T	rs373836724		TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr1:19480331C>T	ENST00000375254.3	-	45	6588	c.6561G>A	c.(6559-6561)ccG>ccA	p.P2187P	UBR4_ENST00000375267.2_Silent_p.P2187P|UBR4_ENST00000375217.2_Silent_p.P2187P|UBR4_ENST00000375226.2_Silent_p.P2187P	NM_020765.2	NP_065816.2	Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2187					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TAACTACCAGCGGCACCCCTG	0.488																																																	0								C		2,4404	4.2+/-10.8	0,2,2201	111.0	108.0	109.0		6561	-7.3	0.7	1		109	0,8600		0,0,4300	no	coding-synonymous	UBR4	NM_020765.2		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		2187/5184	19480331	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	23352			AF348492	CCDS189.1	1p36.13	2008-06-23	2007-06-19	2007-06-19	ENSG00000127481	ENSG00000127481		"""Ubiquitin protein ligase E3 component n-recognins"""	30313	protein-coding gene	gene with protein product		609890	"""zinc finger, UBR1 type 1"""	ZUBR1		14702039, 10718198, 16055722	Standard	XM_005245802		Approved	KIAA1307, KIAA0462, RBAF600	uc001bbi.3	Q5T4S7	OTTHUMG00000002498	ENST00000375254.3:c.6561G>A	1.37:g.19480331C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MPT2|A8MQ33|A8MQB1|O60646|O75050|Q4QRK5|Q5T4S8|Q5T4S9|Q5TBN8|Q5TBP2|Q6DKH8|Q6P4A4|Q7L8P7|Q8IXJ4|Q8TDN5|Q8WV67|Q9HA46|Q9P2N9|Q9UG82	Silent	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.P2187	ENST00000375254.3	37	c.6561	CCDS189.1	1																																																																																			UBR4	-	superfamily_ARM-type_fold		0.488	UBR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR4	HGNC	protein_coding	OTTHUMT00000007085.1	C	NM_020765		19480331	-1	no_errors	ENST00000375267	ensembl	human	known	70_37	silent	SNP	0.490	T
WDTC1	23038	genome.wustl.edu	37	1	27633121	27633122	+	3'UTR	INS	-	-	C	rs397841677|rs3841357|rs539208953	byFrequency	TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr1:27633121_27633122insC	ENST00000319394.3	+	0	2816_2817				WDTC1_ENST00000361771.3_3'UTR	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1						cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		CCCTCCATATGCCCCCCCCCAT	0.584													CcCCCCCC|CCCCCCCCC|CCCCCCCCCC|cryptic_indel	85	0.0169728	0.0204	0.0159	5008	,	,		16429	0.0069		0.0288	False		,,,				2504	0.0112																0																																										SO:0001624	3_prime_UTR_variant	23038			AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.*248->C	1.37:g.27633130_27633130dupC		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	RNA	INS	-	NULL	ENST00000319394.3	37	NULL		1																																																																																			WDTC1	-	-		0.584	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	WDTC1	HGNC	protein_coding		-	NM_015023		27633122	+1	no_errors	ENST00000491239	ensembl	human	known	70_37	rna	INS	0.000:0.002	C
XKR4	114786	genome.wustl.edu	37	8	56015526	56015526	+	Missense_Mutation	SNP	C	C	G			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr8:56015526C>G	ENST00000327381.6	+	1	578	c.478C>G	c.(478-480)Caa>Gaa	p.Q160E		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4	160						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TCTGTCGGTGCAAGTGTTCAG	0.652																																																	0													53.0	37.0	42.0					8																	56015526		2202	4299	6501	SO:0001583	missense	114786			AY534241	CCDS34893.1	8q12.1	2006-01-12	2006-01-12		ENSG00000206579	ENSG00000206579			29394	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 4"""				Standard	NM_052898		Approved	KIAA1889	uc003xsf.3	Q5GH76	OTTHUMG00000164288	ENST00000327381.6:c.478C>G	8.37:g.56015526C>G	ENSP00000328326:p.Gln160Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96PZ8	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.Q160E	ENST00000327381.6	37	c.478	CCDS34893.1	8	.	.	.	.	.	.	.	.	.	.	C	26.9	4.783639	0.90282	.	.	ENSG00000206579	ENST00000327381;ENST00000543752	T	0.70045	-0.45	5.48	5.48	0.80851	.	0.073046	0.56097	D	0.000027	D	0.83977	0.5371	M	0.83223	2.63	0.52501	D	0.999951	D	0.63046	0.992	D	0.76071	0.987	D	0.85993	0.1490	10	0.87932	D	0	-0.9482	19.3419	0.94347	0.0:1.0:0.0:0.0	.	160	Q5GH76	XKR4_HUMAN	E	160	ENSP00000328326:Q160E	ENSP00000328326:Q160E	Q	+	1	0	XKR4	56178080	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.201000	0.77847	2.573000	0.86826	0.585000	0.79938	CAA	XKR4	-	pfam_Transport_prot_XK		0.652	XKR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR4	HGNC	protein_coding	OTTHUMT00000378129.2	C	NM_052898		56015526	+1	no_errors	ENST00000327381	ensembl	human	known	70_37	missense	SNP	1.000	G
ZMIZ1	57178	genome.wustl.edu	37	10	81070690	81070690	+	Missense_Mutation	SNP	G	G	A			TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr10:81070690G>A	ENST00000334512.5	+	24	3417	c.2845G>A	c.(2845-2847)Gct>Act	p.A949T	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	949	Pro-rich.				artery morphogenesis (GO:0048844)|cell aging (GO:0007569)|developmental growth (GO:0048589)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)|vitellogenesis (GO:0007296)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GATGCCACACGCTGGCAGCTC	0.592																																																	0													78.0	72.0	74.0					10																	81070690		2203	4300	6503	SO:0001583	missense	57178			AB033050	CCDS7357.1	10q22.3	2012-11-30	2006-10-24	2006-10-24	ENSG00000108175	ENSG00000108175		"""Zinc fingers, MIZ-type"""	16493	protein-coding gene	gene with protein product		607159	"""retinoic acid induced 17"""	RAI17		15626329	Standard	NM_020338		Approved	RP11-519K18.1, KIAA1224, FLJ13541, hZIMP10, Zimp10, MIZ	uc001kaf.2	Q9ULJ6	OTTHUMG00000018560	ENST00000334512.5:c.2845G>A	10.37:g.81070690G>A	ENSP00000334474:p.Ala949Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JSH9|Q7Z7E6	Missense_Mutation	SNP	pfam_Znf_MIZ,pfscan_Znf_MIZ	p.A949T	ENST00000334512.5	37	c.2845	CCDS7357.1	10	.	.	.	.	.	.	.	.	.	.	G	13.81	2.346828	0.41599	.	.	ENSG00000108175	ENST00000334512;ENST00000360331;ENST00000372347	T	0.28895	1.59	4.71	2.59	0.31030	.	0.182769	0.26082	N	0.026459	T	0.15349	0.0370	N	0.11560	0.145	0.80722	D	1	B	0.23650	0.089	B	0.23574	0.047	T	0.06807	-1.0806	10	0.31617	T	0.26	-1.3252	9.2633	0.37625	0.0967:0.2356:0.6676:0.0	.	949	Q9ULJ6	ZMIZ1_HUMAN	T	949;879;850	ENSP00000334474:A949T	ENSP00000334474:A949T	A	+	1	0	ZMIZ1	80740696	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.487000	0.53222	1.075000	0.40932	0.591000	0.81541	GCT	ZMIZ1	-	NULL		0.592	ZMIZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMIZ1	HGNC	protein_coding	OTTHUMT00000048944.2	G	NM_020338		81070690	+1	no_errors	ENST00000334512	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF491	126069	genome.wustl.edu	37	19	11917970	11917971	+	Frame_Shift_Ins	INS	-	-	T	rs116584868	byFrequency	TCGA-JW-A5VK-01A-11D-A28B-09	TCGA-JW-A5VK-10A-01D-A28E-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d7c75a3-8a45-4361-b159-6644b42f2ee1	9c42d657-7aff-46d2-a208-bca4a24027de	g.chr19:11917970_11917971insT	ENST00000323169.5	+	3	1533_1534	c.1202_1203insT	c.(1201-1206)catgaafs	p.E402fs	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	402					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						ATTAGAATACATGAAAGAATTC	0.386																																																	0																																										SO:0001589	frameshift_variant	126069			AK092110	CCDS12267.1	19p13.2	2013-01-08			ENSG00000177599	ENSG00000177599		"""Zinc fingers, C2H2-type"""	23706	protein-coding gene	gene with protein product							Standard	XM_005259730		Approved	FLJ34791	uc002mso.1	Q8N8L2	OTTHUMG00000156529	ENST00000323169.5:c.1203dupT	19.37:g.11917971_11917971dupT	ENSP00000313443:p.Glu402fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3MJ35|Q8NAT8	Frame_Shift_Ins	INS	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E402fs	ENST00000323169.5	37	c.1202_1203	CCDS12267.1	19																																																																																			ZNF491	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.386	ZNF491-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF491	HGNC	protein_coding	OTTHUMT00000344518.1	-	NM_152356		11917971	+1	no_errors	ENST00000323169	ensembl	human	known	70_37	frame_shift_ins	INS	0.047:0.010	T
