#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_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_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
ADCK2	90956	genome.wustl.edu	37	7	140374050	140374050	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr7:140374050C>A	ENST00000072869.4	+	1	1098	c.920C>A	c.(919-921)tCc>tAc	p.S307Y	ADCK2_ENST00000476491.1_Missense_Mutation_p.S307Y	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	307	Protein kinase.		S -> P (in dbSNP:rs1140034). {ECO:0000269|PubMed:17344846}.			integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					AACCTCATCTCCGTGGCAGTG	0.557																																																	0													44.0	47.0	46.0					7																	140374050		2203	4300	6503	SO:0001583	missense	90956			AF131745	CCDS5861.1	7q34	2003-07-21			ENSG00000133597	ENSG00000133597			19039	protein-coding gene	gene with protein product							Standard	NM_052853		Approved	MGC20727	uc003vvy.1	Q7Z695	OTTHUMG00000157409	ENST00000072869.4:c.920C>A	7.37:g.140374050C>A	ENSP00000072869:p.Ser307Tyr		Q96CN6|Q9Y6T5	Missense_Mutation	SNP	pfam_UbiB_dom,superfamily_Kinase-like_dom	p.S307Y	ENST00000072869.4	37	c.920	CCDS5861.1	7	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047362	0.36085	.	.	ENSG00000133597	ENST00000072869;ENST00000476491	T;T	0.55588	0.51;0.51	4.06	3.15	0.36227	ABC-1 (1);	0.222345	0.38326	N	0.001726	T	0.31638	0.0803	N	0.05158	-0.105	0.19775	N	0.999954	B;B	0.21753	0.052;0.06	B;B	0.17979	0.02;0.017	T	0.34725	-0.9817	10	0.87932	D	0	-10.3382	12.8495	0.57850	0.1643:0.8357:0.0:0.0	.	307;307	C9JE15;Q7Z695	.;ADCK2_HUMAN	Y	307	ENSP00000072869:S307Y;ENSP00000420512:S307Y	ENSP00000072869:S307Y	S	+	2	0	ADCK2	140020519	0.988000	0.35896	0.590000	0.28732	0.585000	0.36419	3.484000	0.53201	0.894000	0.36317	0.561000	0.74099	TCC	ADCK2	-	pfam_UbiB_dom,superfamily_Kinase-like_dom		0.557	ADCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCK2	HGNC	protein_coding	OTTHUMT00000348734.1	C	NM_052853		140374050	+1	no_errors	ENST00000072869	ensembl	human	known	70_37	missense	SNP	0.968	A
ADORA3	140	genome.wustl.edu	37	1	112029268	112029268	+	Nonsense_Mutation	SNP	G	G	C			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr1:112029268G>C	ENST00000369716.4	-	4	945	c.812C>G	c.(811-813)tCa>tGa	p.S271*	ADORA3_ENST00000369717.4_Nonsense_Mutation_p.S190*	NM_020683.6	NP_065734.5	P33765	AA3R_HUMAN	adenosine A3 receptor	0					activation of adenylate cyclase activity (GO:0007190)|histamine secretion by mast cell (GO:0002553)|inflammatory response (GO:0006954)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of inflammatory response (GO:0050729)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of mast cell degranulation (GO:0043306)|positive regulation of mucus secretion (GO:0070257)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|regulation of heart contraction (GO:0008016)|response to wounding (GO:0009611)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	G-protein coupled adenosine receptor activity (GO:0001609)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)|Enprofylline(DB00824)	TTTGTTGCCTGATAGGTCTGA	0.542																																																	0													96.0	88.0	91.0					1																	112029268		2203	4300	6503	SO:0001587	stop_gained	140			BC029831	CCDS838.1, CCDS839.1, CCDS41369.1	1p13.2	2014-09-17			ENSG00000121933	ENSG00000121933		"""GPCR / Class A : Adenosine receptors"", ""Immunoglobulin superfamily / V-set domain containing"""	268	protein-coding gene	gene with protein product		600445				7607699	Standard	NM_020683		Approved	AD026	uc001ebf.3	P33765	OTTHUMG00000011957	ENST00000369716.4:c.812C>G	1.37:g.112029268G>C	ENSP00000358730:p.Ser271*		A2A3P4|Q6UWU0|Q9BYZ1	Nonsense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Adeno_A3_rcpt,prints_GPCR_Rhodpsn	p.S271*	ENST00000369716.4	37	c.812	CCDS838.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.79|12.79	2.042641|2.042641	0.35989|0.35989	.|.	.|.	ENSG00000121933|ENSG00000121933	ENST00000414219;ENST00000442484|ENST00000369717;ENST00000369716;ENST00000355437;ENST00000443498	.|.	.|.	.|.	4.33|4.33	3.34|3.34	0.38264|0.38264	.|.	.|0.997403	.|0.08115	.|N	.|0.995526	T|.	0.27832|.	0.0685|.	.|.	.|.	.|.	0.09310|0.09310	N|N	0.999992|0.999992	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.27739|.	-1.0065|.	4|.	.|0.72032	.|D	.|0.01	4.3649|4.3649	8.5026|8.5026	0.33168|0.33168	0.0:0.0:0.7504:0.2496|0.0:0.0:0.7504:0.2496	.|.	.|.	.|.	.|.	E|X	131;84|190;271;102;96	.|.	.|ENSP00000347612:S102X	Q|S	-|-	1|2	0|0	ADORA3|ADORA3	111830791|111830791	0.001000|0.001000	0.12720|0.12720	0.005000|0.005000	0.12908|0.12908	0.316000|0.316000	0.28119|0.28119	0.913000|0.913000	0.28611|0.28611	2.235000|2.235000	0.73313|0.73313	0.462000|0.462000	0.41574|0.41574	CAG|TCA	ADORA3	-	NULL		0.542	ADORA3-007	KNOWN	basic|CCDS	protein_coding	ADORA3	HGNC	protein_coding	OTTHUMT00000157679.1	G	NM_000677, NM_020683		112029268	-1	no_errors	ENST00000369716	ensembl	human	known	70_37	nonsense	SNP	0.001	C
ALAS2	212	genome.wustl.edu	37	X	55047616	55047616	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chrX:55047616G>T	ENST00000330807.5	-	5	644	c.507C>A	c.(505-507)aaC>aaA	p.N169K	ALAS2_ENST00000498636.1_5'Flank|ALAS2_ENST00000335854.4_Missense_Mutation_p.N132K|ALAS2_ENST00000396198.3_Missense_Mutation_p.N156K	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	169					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CAGCCCAGCGGTTCACAGTCT	0.478																																																	0													173.0	123.0	140.0					X																	55047616		2203	4300	6503	SO:0001583	missense	212				CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.507C>A	X.37:g.55047616G>T	ENSP00000332369:p.Asn169Lys		A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth	p.N169K	ENST00000330807.5	37	c.507	CCDS14366.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.89|17.89	3.499991|3.499991	0.64298|0.64298	.|.	.|.	ENSG00000158578|ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854|ENST00000455688	D;D;D|.	0.94758|.	-3.51;-3.51;-3.51|.	4.92|4.92	-0.468|-0.468	0.12146|0.12146	Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.73621|0.73621	0.3610|0.3610	M|M	0.87758|0.87758	2.905|2.905	0.53005|0.53005	D|D	0.999969|0.999969	D;D;D|.	0.71674|.	0.998;0.998;0.997|.	D;D;D|.	0.71414|.	0.949;0.964;0.973|.	T|T	0.72714|0.72714	-0.4210|-0.4210	10|5	0.54805|.	T|.	0.06|.	-21.016|-21.016	9.5583|9.5583	0.39353|0.39353	0.5419:0.0:0.4581:0.0|0.5419:0.0:0.4581:0.0	.|.	132;156;169|.	A8K6C4;Q5JZF5;P22557|.	.;.;HEM0_HUMAN|.	K|N	169;156;132|121	ENSP00000332369:N169K;ENSP00000379501:N156K;ENSP00000337131:N132K|.	ENSP00000332369:N169K|.	N|T	-|-	3|2	2|0	ALAS2|ALAS2	55064341|55064341	1.000000|1.000000	0.71417|0.71417	0.996000|0.996000	0.52242|0.52242	0.995000|0.995000	0.86356|0.86356	2.039000|2.039000	0.41193|0.41193	-0.206000|-0.206000	0.10203|0.10203	0.529000|0.529000	0.55759|0.55759	AAC|ACC	ALAS2	-	superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth		0.478	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ALAS2	HGNC	protein_coding	OTTHUMT00000056843.3	G	NM_000032		55047616	-1	no_errors	ENST00000330807	ensembl	human	known	70_37	missense	SNP	1.000	T
ALLC	55821	genome.wustl.edu	37	2	3749212	3749212	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr2:3749212C>T	ENST00000252505.3	+	11	1123	c.961C>T	c.(961-963)Ctt>Ttt	p.L321F	ALLC_ENST00000471711.1_3'UTR|AC010907.5_ENST00000441632.1_RNA	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	340					allantoin catabolic process (GO:0000256)		allantoicase activity (GO:0004037)			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GAAACCACTGCTTCCAGTGAC	0.488										HNSCC(21;0.051)																																							0													66.0	64.0	65.0					2																	3749212		1949	4149	6098	SO:0001583	missense	55821			AF215924	CCDS46223.1	2p25.3	2008-02-05			ENSG00000151360	ENSG00000151360			17377	protein-coding gene	gene with protein product		612396				11054555	Standard	NM_018436		Approved	ALC	uc010ewt.3	Q8N6M5	OTTHUMG00000151485	ENST00000252505.3:c.961C>T	2.37:g.3749212C>T	ENSP00000252505:p.Leu321Phe		Q53T95|Q5RL81|Q96RE6|Q9NZA7	Missense_Mutation	SNP	pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase	p.L321F	ENST00000252505.3	37	c.961	CCDS46223.1	2	.	.	.	.	.	.	.	.	.	.	C	13.58	2.279257	0.40294	.	.	ENSG00000151360	ENST00000252505	.	.	.	4.53	4.53	0.55603	Allantoicase domain (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.84629	0.5514	M	0.91196	3.185	0.46279	D	0.998969	D	0.71674	0.998	D	0.74674	0.984	D	0.88551	0.3116	9	0.87932	D	0	-13.7232	15.1387	0.72590	0.0:1.0:0.0:0.0	.	340	Q8N6M5	ALLC_HUMAN	F	321	.	ENSP00000252505:L321F	L	+	1	0	ALLC	3727087	1.000000	0.71417	0.403000	0.26384	0.019000	0.09904	3.766000	0.55280	2.218000	0.71995	0.655000	0.94253	CTT	ALLC	-	pfam_Allantoicase_dom,superfamily_Galactose-bd-like,tigrfam_Allantoicase		0.488	ALLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALLC	HGNC	protein_coding	OTTHUMT00000322855.1	C			3749212	+1	no_errors	ENST00000252505	ensembl	human	known	70_37	missense	SNP	0.997	T
ATG101	60673	genome.wustl.edu	37	12	52470838	52470838	+	Missense_Mutation	SNP	T	T	C			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr12:52470838T>C	ENST00000336854.4	+	4	999	c.521T>C	c.(520-522)gTg>gCg	p.V174A	OR7E47P_ENST00000546390.1_RNA|RP11-1100L3.7_ENST00000550301.1_RNA	NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN		174					autophagic vacuole assembly (GO:0000045)	pre-autophagosomal structure (GO:0000407)	identical protein binding (GO:0042802)|protein complex binding (GO:0032403)			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		CAGTCGGAGGTGGATAACGTG	0.552																																																	0													148.0	118.0	128.0					12																	52470838		2203	4300	6503	SO:0001583	missense	60673																														ENST00000336854.4:c.521T>C	12.37:g.52470838T>C	ENSP00000338990:p.Val174Ala		Q9HAE2|Q9HBN1	Missense_Mutation	SNP	pfam_ATG101	p.V174A	ENST00000336854.4	37	c.521	CCDS8820.1	12	.	.	.	.	.	.	.	.	.	.	T	16.77	3.215406	0.58452	.	.	ENSG00000123395	ENST00000336854;ENST00000553049;ENST00000550984	.	.	.	4.78	4.78	0.61160	.	0.070705	0.56097	D	0.000037	T	0.54870	0.1885	L	0.47716	1.5	0.54753	D	0.999989	P	0.40794	0.729	B	0.43623	0.425	T	0.55648	-0.8108	9	0.38643	T	0.18	-17.4715	13.7571	0.62943	0.0:0.0:0.0:1.0	.	174	Q9BSB4	ATGA1_HUMAN	A	174	.	ENSP00000338990:V174A	V	+	2	0	C12orf44	50757105	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.743000	0.68655	2.145000	0.66743	0.533000	0.62120	GTG	C12orf44	-	NULL		0.552	C12orf44-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C12orf44	HGNC	protein_coding	OTTHUMT00000405063.1	T			52470838	+1	no_errors	ENST00000336854	ensembl	human	known	70_37	missense	SNP	1.000	C
SMCO1	255798	genome.wustl.edu	37	3	196241994	196241994	+	Intron	SNP	G	G	A			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr3:196241994G>A	ENST00000397537.2	-	1	207					NM_001077657.1	NP_001071125.1	Q147U7	SMCO1_HUMAN	single-pass membrane protein with coiled-coil domains 1							integral component of membrane (GO:0016021)											CAGAATAGCAGACCCATGCTT	0.458																																																	0													204.0	200.0	201.0					3																	196241994		1871	4099	5970	SO:0001627	intron_variant	255798			AK123917	CCDS43192.1	3q29	2013-03-08	2013-03-08	2013-03-08	ENSG00000214097	ENSG00000214097			27407	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 43"""	C3orf43			Standard	NM_001077657		Approved	FLJ41923, DKFZp313B0440		Q147U7	OTTHUMG00000155581	ENST00000397537.2:c.50+36C>T	3.37:g.196241994G>A			B3KW20	Silent	SNP	NULL	p.V29	ENST00000397537.2	37	c.87	CCDS43192.1	3																																																																																			C3orf43	-	NULL		0.458	SMCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf43	HGNC	protein_coding	OTTHUMT00000340776.1	G	NM_001006109		196241994	-1	no_errors	ENST00000452776	ensembl	human	known	70_37	silent	SNP	0.009	A
C7orf31	136895	genome.wustl.edu	37	7	25176304	25176304	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr7:25176304G>A	ENST00000409280.1	-	10	1368	c.1060C>T	c.(1060-1062)Cgt>Tgt	p.R354C	C7orf31_ENST00000283905.3_Missense_Mutation_p.R354C			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	354										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						GGACAGGAACGTGGTCTTTGC	0.458																																																	0													117.0	120.0	119.0					7																	25176304		2203	4300	6503	SO:0001583	missense	136895			AK097248	CCDS5394.1	7p15.2	2011-11-24			ENSG00000153790	ENSG00000153790			21722	protein-coding gene	gene with protein product							Standard	NM_138811		Approved		uc003sxn.1	Q8N865	OTTHUMG00000128497	ENST00000409280.1:c.1060C>T	7.37:g.25176304G>A	ENSP00000386604:p.Arg354Cys		A4D165|Q6MZV8|Q6P989|Q7LE28|Q86XK1|Q8N1H5|Q96BN4	Missense_Mutation	SNP	NULL	p.R354C	ENST00000409280.1	37	c.1060	CCDS5394.1	7	.	.	.	.	.	.	.	.	.	.	G	4.704	0.130914	0.08981	.	.	ENSG00000153790	ENST00000409280;ENST00000283905	T;T	0.05996	3.36;3.36	5.75	0.495	0.16890	.	1.150600	0.06146	N	0.673264	T	0.02571	0.0078	N	0.03608	-0.345	0.09310	N	1	P	0.49358	0.923	B	0.38712	0.28	T	0.22765	-1.0207	10	0.54805	T	0.06	-4.808	1.6533	0.02776	0.1607:0.1325:0.4018:0.305	.	354	Q8N865	CG031_HUMAN	C	354	ENSP00000386604:R354C;ENSP00000283905:R354C	ENSP00000283905:R354C	R	-	1	0	C7orf31	25142829	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.318000	0.19504	-0.195000	0.10382	-0.218000	0.12543	CGT	C7orf31	-	NULL		0.458	C7orf31-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C7orf31	HGNC	protein_coding	OTTHUMT00000326929.1	G	NM_138811		25176304	-1	no_errors	ENST00000283905	ensembl	human	known	70_37	missense	SNP	0.000	A
CHRNA5	1138	genome.wustl.edu	37	15	78882913	78882913	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr15:78882913G>C	ENST00000299565.5	+	5	1380	c.1180G>C	c.(1180-1182)Gaa>Caa	p.E394Q	CHRNA5_ENST00000559554.1_Intron|RP11-650L12.2_ENST00000567141.1_RNA	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	394					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15					Galantamine(DB00674)|Nicotine(DB00184)	AAACACATTGGAAGCTGCGCT	0.413																																																	0													79.0	75.0	76.0					15																	78882913		2196	4293	6489	SO:0001583	missense	1138				CCDS10304.1	15q24	2012-02-11	2012-02-07		ENSG00000169684	ENSG00000169684		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1959	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 5 (neuronal)"""	118505	"""cholinergic receptor, nicotinic, alpha polypeptide 5"""			2004777	Standard	NM_000745		Approved		uc002bdy.3	P30532	OTTHUMG00000143858	ENST00000299565.5:c.1180G>C	15.37:g.78882913G>C	ENSP00000299565:p.Glu394Gln		Q15824|Q99554	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.E394Q	ENST00000299565.5	37	c.1180	CCDS10304.1	15	.	.	.	.	.	.	.	.	.	.	G	7.992	0.753493	0.15778	.	.	ENSG00000169684	ENST00000299565	D	0.85629	-2.01	4.79	4.79	0.61399	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.531769	0.21275	N	0.077260	T	0.79173	0.4401	L	0.28740	0.885	0.80722	D	1	B	0.22003	0.063	B	0.22152	0.038	T	0.73487	-0.3967	10	0.25106	T	0.35	.	18.2639	0.90046	0.0:0.0:1.0:0.0	.	394	P30532	ACHA5_HUMAN	Q	394	ENSP00000299565:E394Q	ENSP00000299565:E394Q	E	+	1	0	CHRNA5	76669968	1.000000	0.71417	0.848000	0.33437	0.107000	0.19398	4.192000	0.58378	2.382000	0.81193	0.558000	0.71614	GAA	CHRNA5	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM		0.413	CHRNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA5	HGNC	protein_coding	OTTHUMT00000290106.1	G			78882913	+1	no_errors	ENST00000299565	ensembl	human	known	70_37	missense	SNP	1.000	C
CNTNAP5	129684	genome.wustl.edu	37	2	125671718	125671718	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr2:125671718G>A	ENST00000431078.1	+	24	4138	c.3774G>A	c.(3772-3774)atG>atA	p.M1258I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1258					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.M1258I(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TCGGCATCATGACCCGGTTCC	0.453																																																	1	Substitution - Missense(1)	lung(1)											177.0	167.0	171.0					2																	125671718		1971	4177	6148	SO:0001583	missense	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3774G>A	2.37:g.125671718G>A	ENSP00000399013:p.Met1258Ile		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.M1258I	ENST00000431078.1	37	c.3774	CCDS46401.1	2	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389185	0.42410	.	.	ENSG00000155052	ENST00000431078	T	0.40756	1.02	6.14	6.14	0.99180	.	0.000000	0.64402	D	0.000010	T	0.42381	0.1200	L	0.49126	1.545	0.48185	D	0.999605	P	0.43788	0.817	P	0.44860	0.462	T	0.24083	-1.0170	10	0.02654	T	1	.	19.8072	0.96535	0.0:0.0:1.0:0.0	.	1258	Q8WYK1	CNTP5_HUMAN	I	1258	ENSP00000399013:M1258I	ENSP00000399013:M1258I	M	+	3	0	CNTNAP5	125388188	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	4.128000	0.57951	2.927000	0.99377	0.637000	0.83480	ATG	CNTNAP5	-	NULL		0.453	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	G			125671718	+1	no_errors	ENST00000431078	ensembl	human	known	70_37	missense	SNP	1.000	A
COCH	1690	genome.wustl.edu	37	14	31355293	31355293	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr14:31355293G>C	ENST00000396618.3	+	11	1308	c.1252G>C	c.(1252-1254)Gag>Cag	p.E418Q	RP11-829H16.3_ENST00000555108.1_RNA|RP11-829H16.3_ENST00000556786.1_RNA|COCH_ENST00000216361.4_Missense_Mutation_p.E418Q|COCH_ENST00000382493.4_Missense_Mutation_p.E269Q|COCH_ENST00000460581.2_Missense_Mutation_p.E306Q|COCH_ENST00000475087.1_Missense_Mutation_p.E418Q|RP11-829H16.3_ENST00000555421.1_RNA|RP11-829H16.3_ENST00000468444.2_RNA	NM_004086.2	NP_004077.1	O43405	COCH_HUMAN	cochlin	418	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				defense response to bacterium (GO:0042742)|positive regulation of innate immune response (GO:0045089)|regulation of cell shape (GO:0008360)|sensory perception of sound (GO:0007605)	extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)		p.E418K(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		TCAGCGCACGGAGTTCAGTTT	0.438																																																	1	Substitution - Missense(1)	skin(1)											141.0	121.0	127.0					14																	31355293		2203	4300	6503	SO:0001583	missense	1690				CCDS9640.1	14q11.2-q13	2013-05-01	2013-05-01		ENSG00000100473	ENSG00000100473			2180	protein-coding gene	gene with protein product		603196	"""coagulation factor C (Limulus polyphemus homolog); cochlin"", ""coagulation factor C homolog, cochlin (Limulus polyphemus)"""	DFNA31, DFNA9		9806553	Standard	NM_004086		Approved	COCH-5B2	uc001wqp.2	O43405	OTTHUMG00000029432	ENST00000396618.3:c.1252G>C	14.37:g.31355293G>C	ENSP00000379862:p.Glu418Gln		A8K9K9|D3DS84|Q96IU6	Missense_Mutation	SNP	pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A	p.E418Q	ENST00000396618.3	37	c.1252	CCDS9640.1	14	.	.	.	.	.	.	.	.	.	.	G	28.9	4.957481	0.92726	.	.	ENSG00000100473	ENST00000216361;ENST00000396618;ENST00000475087;ENST00000460581;ENST00000382493	D;D;D;D;D	0.84298	-1.83;-1.83;-1.83;-1.83;-1.83	6.02	6.02	0.97574	von Willebrand factor, type A (3);	0.000000	0.85682	D	0.000000	D	0.92967	0.7762	M	0.77712	2.385	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	D	0.92663	0.6143	10	0.72032	D	0.01	-23.0309	20.547	0.99278	0.0:0.0:1.0:0.0	.	269;418;418	E7EN67;Q96IU6;O43405	.;.;COCH_HUMAN	Q	418;418;418;306;269	ENSP00000216361:E418Q;ENSP00000379862:E418Q;ENSP00000451528:E418Q;ENSP00000451713:E306Q;ENSP00000371933:E269Q	ENSP00000216361:E418Q	E	+	1	0	COCH	30425044	1.000000	0.71417	0.987000	0.45799	0.934000	0.57294	9.827000	0.99397	2.850000	0.98022	0.650000	0.86243	GAG	COCH	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.438	COCH-005	KNOWN	basic|appris_principal|CCDS	protein_coding	COCH	HGNC	protein_coding	OTTHUMT00000276608.1	G	NM_004086		31355293	+1	no_errors	ENST00000216361	ensembl	human	known	70_37	missense	SNP	1.000	C
COPS2	9318	genome.wustl.edu	37	15	49421674	49421674	+	Splice_Site	SNP	C	C	A			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr15:49421674C>A	ENST00000388901.5	-	11	1201	c.1128G>T	c.(1126-1128)aaG>aaT	p.K376N	COPS2_ENST00000299259.6_Splice_Site_p.K383N|COPS2_ENST00000542928.1_Splice_Site_p.K312N	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	376	PCI.				cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		ATATAAGTACCTTAGAAATAA	0.264																																					NSCLC(36;322 1063 10349 30082 48062)|Esophageal Squamous(122;685 1633 15569 21293 52803)												0													17.0	18.0	17.0					15																	49421674		2089	4113	6202	SO:0001630	splice_region_variant	9318			AF212227	CCDS32235.1, CCDS45257.1	15q21.2	2013-03-14	2013-03-14						30747	protein-coding gene	gene with protein product		604508	"""COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis)"""			7776974, 9535219	Standard	NM_004236		Approved	TRIP15, ALIEN, CSN2	uc001zxh.3	P61201		ENST00000388901.5:c.1128+1G>T	15.37:g.49421674C>A			O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	pfam_PCI_dom,pfam_COP9_signalosome_subunit_CSN8,smart_PAM,smart_PCI_dom	p.K383N	ENST00000388901.5	37	c.1149	CCDS32235.1	15	.	.	.	.	.	.	.	.	.	.	C	18.05	3.536585	0.65085	.	.	ENSG00000166200	ENST00000299259;ENST00000388901;ENST00000542928	T;T;T	0.33865	1.39;1.39;1.39	5.05	5.05	0.67936	Winged helix-turn-helix transcription repressor DNA-binding (1);Proteasome component (PCI) domain (2);	0.000000	0.85682	D	0.000000	T	0.41673	0.1169	M	0.70842	2.15	0.80722	D	1	B;B;B	0.14805	0.003;0.011;0.011	B;B;B	0.18561	0.022;0.022;0.022	T	0.29366	-1.0014	9	.	.	.	-12.8262	18.7719	0.91896	0.0:1.0:0.0:0.0	.	312;384;376	B4DIH5;Q59EL2;P61201	.;.;CSN2_HUMAN	N	383;376;312	ENSP00000299259:K383N;ENSP00000373553:K376N;ENSP00000443664:K312N	.	K	-	3	2	COPS2	47208966	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.978000	0.70501	2.498000	0.84270	0.655000	0.94253	AAG	COPS2	-	pfam_PCI_dom,pfam_COP9_signalosome_subunit_CSN8,smart_PCI_dom		0.264	COPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPS2	HGNC	protein_coding	OTTHUMT00000417840.1	C	NM_004236	Missense_Mutation	49421674	-1	no_errors	ENST00000299259	ensembl	human	known	70_37	missense	SNP	1.000	A
CRISP1	167	genome.wustl.edu	37	6	49814315	49814315	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr6:49814315A>G	ENST00000335847.4	-	5	454	c.353T>C	c.(352-354)gTc>gCc	p.V118A	CRISP1_ENST00000536021.1_Missense_Mutation_p.V118A|CRISP1_ENST00000329411.5_Missense_Mutation_p.V118A|CRISP1_ENST00000507853.1_Missense_Mutation_p.V118A|CRISP1_ENST00000505118.1_Missense_Mutation_p.V118A|CRISP1_ENST00000355791.2_Missense_Mutation_p.V118A	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	118	SCP.				binding of sperm to zona pellucida (GO:0007339)|fusion of sperm to egg plasma membrane (GO:0007342)|regulation of acrosome reaction (GO:0060046)	extracellular space (GO:0005615)|nucleus (GO:0005634)	calcium channel regulator activity (GO:0005246)			endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					ACTGTACCAGACTCCAATTAC	0.418																																																	0													322.0	260.0	281.0					6																	49814315		2203	4300	6503	SO:0001583	missense	167			D38451	CCDS4931.1, CCDS4932.1	6p21.2-p21.1	2008-02-05	2003-09-03	2003-09-05	ENSG00000124812	ENSG00000124812			304	protein-coding gene	gene with protein product		601193	"""acidic epididymal glycoprotein-like 1"""	AEGL1		8838800	Standard	NM_001131		Approved	CRISP-1, ARP, HUMARP, HSCRISP1D, HSCRISP1G	uc003ozw.2	P54107	OTTHUMG00000014827	ENST00000335847.4:c.353T>C	6.37:g.49814315A>G	ENSP00000338276:p.Val118Ala		B5BU98|O00698|Q13248|Q14082|Q96SF6	Missense_Mutation	SNP	pfam_Cysteine_rich_secretory,pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen	p.V118A	ENST00000335847.4	37	c.353	CCDS4931.1	6	.	.	.	.	.	.	.	.	.	.	A	1.153	-0.645985	0.03531	.	.	ENSG00000124812	ENST00000507853;ENST00000335847;ENST00000355791;ENST00000329411;ENST00000505118;ENST00000536021	T;T;T;T;T;T	0.06768	3.26;3.26;3.26;3.26;3.26;3.26	5.35	0.0677	0.14367	CAP domain (3);	1.000140	0.08070	N	0.999690	T	0.00936	0.0031	N	0.01729	-0.75	0.09310	N	1	B;P	0.39576	0.009;0.679	B;B	0.39217	0.005;0.294	T	0.42832	-0.9428	9	.	.	.	.	7.8118	0.29237	0.6087:0.0:0.3913:0.0	.	118;118	P54107-2;P54107	.;CRIS1_HUMAN	A	118	ENSP00000425020:V118A;ENSP00000338276:V118A;ENSP00000348044:V118A;ENSP00000331317:V118A;ENSP00000427589:V118A;ENSP00000441798:V118A	.	V	-	2	0	CRISP1	49922274	0.000000	0.05858	0.039000	0.18376	0.038000	0.13279	-0.384000	0.07389	-0.213000	0.10094	-0.408000	0.06270	GTC	CRISP1	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1,prints_V5_allergen		0.418	CRISP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISP1	HGNC	protein_coding	OTTHUMT00000040875.2	A	NM_001131		49814315	-1	no_errors	ENST00000335847	ensembl	human	known	70_37	missense	SNP	0.118	G
CSMD1	64478	genome.wustl.edu	37	8	2813245	2813245	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr8:2813245C>G	ENST00000520002.1	-	65	10418	c.9863G>C	c.(9862-9864)aGa>aCa	p.R3288T	CSMD1_ENST00000537824.1_Missense_Mutation_p.R3287T|CSMD1_ENST00000602557.1_Missense_Mutation_p.R3288T|CSMD1_ENST00000602723.1_Missense_Mutation_p.R3111T|CSMD1_ENST00000400186.3_Missense_Mutation_p.R3111T|CSMD1_ENST00000542608.1_Missense_Mutation_p.R3110T			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3288	Sushi 28. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATCGATGGCTCTCACATCCGC	0.483																																																	0													146.0	143.0	144.0					8																	2813245		1977	4166	6143	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9863G>C	8.37:g.2813245C>G	ENSP00000430733:p.Arg3288Thr		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.R3288T	ENST00000520002.1	37	c.9863		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.75|10.75	1.437715|1.437715	0.25900|0.25900	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	.|T;T;T;T	.|0.62364	.|0.03;0.03;0.03;0.03	5.64|5.64	5.64|5.64	0.86602|0.86602	.|Complement control module (2);Sushi/SCR/CCP (3);	.|0.071976	.|0.52532	.|D	.|0.000078	T|T	0.57359|0.57359	0.2048|0.2048	N|N	0.12527|0.12527	0.23|0.23	0.80722|0.80722	D|D	1|1	.|D;B;P	.|0.64830	.|0.994;0.063;0.64	.|D;B;P	.|0.75020	.|0.985;0.139;0.627	T|T	0.52931|0.52931	-0.8509|-0.8509	5|10	.|0.08179	.|T	.|0.78	.|.	10.7635|10.7635	0.46279|0.46279	0.0:0.8853:0.0:0.1147|0.0:0.8853:0.0:0.1147	.|.	.|3288;3288;3110	.|E5RIG2;Q96PZ7;F5H2I8	.|.;CSMD1_HUMAN;.	D|T	2704|3111;3288;3149;3287;3110	.|ENSP00000383047:R3111T;ENSP00000430733:R3288T;ENSP00000441462:R3287T;ENSP00000446243:R3110T	.|ENSP00000320445:R3149T	E|R	-|-	3|2	2|0	CSMD1|CSMD1	2800652|2800652	1.000000|1.000000	0.71417|0.71417	0.247000|0.247000	0.24249|0.24249	0.388000|0.388000	0.30384|0.30384	4.699000|4.699000	0.61796|0.61796	2.656000|2.656000	0.90262|0.90262	0.460000|0.460000	0.39030|0.39030	GAG|AGA	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.483	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	C	NM_033225		2813245	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	missense	SNP	0.998	G
CSMD1	64478	genome.wustl.edu	37	8	4277496	4277496	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr8:4277496C>A	ENST00000520002.1	-	3	949	c.394G>T	c.(394-396)Ggt>Tgt	p.G132C	CSMD1_ENST00000537824.1_Missense_Mutation_p.G132C|CSMD1_ENST00000602557.1_Missense_Mutation_p.G132C|CSMD1_ENST00000602723.1_Missense_Mutation_p.G132C|CSMD1_ENST00000400186.3_Missense_Mutation_p.G132C|CSMD1_ENST00000542608.1_Missense_Mutation_p.G132C|CSMD1_ENST00000539096.1_Missense_Mutation_p.G132C			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	132	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTTTGAAACCTTGGGCACTC	0.408																																																	0													60.0	58.0	59.0					8																	4277496		1938	4140	6078	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.394G>T	8.37:g.4277496C>A	ENSP00000430733:p.Gly132Cys		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.G132C	ENST00000520002.1	37	c.394		8	.	.	.	.	.	.	.	.	.	.	C	18.88	3.718238	0.68844	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000537824;ENST00000542608;ENST00000539096	T;T;T;T;T	0.36157	1.27;1.27;1.27;1.27;1.27	5.57	5.57	0.84162	.	.	.	.	.	T	0.76765	0.4033	H	0.98802	4.335	0.46701	D	0.999162	D	0.89917	1.0	D	0.97110	1.0	D	0.86131	0.1575	9	0.87932	D	0	.	17.3915	0.87432	0.0:1.0:0.0:0.0	.	132	E5RIG2	.	C	132	ENSP00000383047:G132C;ENSP00000430733:G132C;ENSP00000441462:G132C;ENSP00000446243:G132C;ENSP00000441675:G132C	ENSP00000383047:G132C	G	-	1	0	CSMD1	4264904	1.000000	0.71417	0.965000	0.40720	0.338000	0.28826	6.918000	0.75788	2.775000	0.95449	0.650000	0.86243	GGT	CSMD1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.408	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	C	NM_033225		4277496	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	missense	SNP	1.000	A
DCX	1641	genome.wustl.edu	37	X	110574146	110574146	+	Splice_Site	SNP	C	C	T			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chrX:110574146C>T	ENST00000338081.3	-	5	1346		c.e5+1		DCX_ENST00000356915.2_Missense_Mutation_p.G311D|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000356220.3_Missense_Mutation_p.G311D|DCX_ENST00000371993.2_Splice_Site|DCX_ENST00000488120.1_Splice_Site	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin						axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)	p.G311V(1)|p.?(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TTGGTCGTTACCTGAGTCAGC	0.522																																																	2	Substitution - Missense(1)|Unknown(1)	lung(2)											319.0	254.0	276.0					X																	110574146		2203	4300	6503	SO:0001630	splice_region_variant	1641			AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.1174+1G>A	X.37:g.110574146C>T			A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Splice_Site	SNP	-	e5+1	ENST00000338081.3	37	c.1174+1	CCDS14556.1	X	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	25.8|25.8|25.8	4.678967|4.678967|4.678967	0.88542|0.88542|0.88542	.|.|.	.|.|.	ENSG00000077279|ENSG00000077279|ENSG00000077279	ENST00000371993;ENST00000338081;ENST00000488120|ENST00000356915;ENST00000356220|ENST00000358070	.|T;T|.	.|0.25250|.	.|1.81;1.81|.	5.41|5.41|5.41	5.41|5.41|5.41	0.78517|0.78517|0.78517	.|.|.	.|0.328242|.	.|0.27664|.	.|N|.	.|0.018367|.	.|T|T	.|0.50616|0.50616	.|0.1626|0.1626	N|N|N	0.14661|0.14661|0.14661	0.345|0.345|0.345	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|B|.	.|0.13145|.	.|0.007|.	.|B|.	.|0.09377|.	.|0.004|.	.|T|T	.|0.47586|0.47586	.|-0.9106|-0.9106	.|10|5	.|0.16420|.	.|T|.	.|0.52|.	.|.|.	18.2138|18.2138|18.2138	0.89879|0.89879|0.89879	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|380|.	.|B4DM53|.	.|.|.	.|D|I	-1|311|384	.|ENSP00000349385:G311D;ENSP00000348553:G311D|.	.|ENSP00000348553:G311D|.	.|G|V	-|-|-	.|2|1	.|0|0	DCX|DCX|DCX	110460802|110460802|110460802	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.998000|0.998000|0.998000	0.95712|0.95712|0.95712	6.610000|6.610000|6.610000	0.74178|0.74178|0.74178	2.238000|2.238000|2.238000	0.73509|0.73509|0.73509	0.594000|0.594000|0.594000	0.82650|0.82650|0.82650	.|GGT|GTA	DCX	-	-		0.522	DCX-006	KNOWN	basic|CCDS	protein_coding	DCX	HGNC	protein_coding	OTTHUMT00000357058.1	C	NM_178153	Intron	110574146	-1	no_errors	ENST00000338081	ensembl	human	known	70_37	splice_site	SNP	1.000	T
DENND5B	160518	genome.wustl.edu	37	12	31577564	31577564	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr12:31577564C>T	ENST00000389082.5	-	10	2560	c.2296G>A	c.(2296-2298)Gaa>Aaa	p.E766K	DENND5B_ENST00000306833.6_Missense_Mutation_p.E801K|DENND5B_ENST00000536562.1_Missense_Mutation_p.E801K	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	766					positive regulation of Rab GTPase activity (GO:0032851)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						ATGTTTGCTTCTCCATGGCCA	0.522																																																	0													266.0	256.0	259.0					12																	31577564		2092	4235	6327	SO:0001583	missense	160518			AF086301	CCDS44857.1	12p11.21	2012-10-03			ENSG00000170456	ENSG00000170456		"""DENN/MADD domain containing"""	28338	protein-coding gene	gene with protein product						12477932	Standard	NM_144973		Approved	MGC24039	uc001rki.1	Q6ZUT9	OTTHUMG00000169034	ENST00000389082.5:c.2296G>A	12.37:g.31577564C>T	ENSP00000373734:p.Glu766Lys		B5ME75|Q59FW8|Q68CZ7|Q6NUJ0|Q7Z3F9|Q8N973|Q8WUC8	Missense_Mutation	SNP	pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_LipOase_LH2,pfscan_Run	p.E801K	ENST00000389082.5	37	c.2401	CCDS44857.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.629044	0.96671	.	.	ENSG00000170456	ENST00000389082;ENST00000306833;ENST00000536562	T;T;T	0.12361	2.69;2.69;2.69	4.78	4.78	0.61160	.	0.000000	0.85682	D	0.000000	T	0.35189	0.0923	M	0.71581	2.175	0.80722	D	1	D;D	0.58970	0.972;0.984	P;P	0.61397	0.715;0.888	T	0.04347	-1.0958	10	0.49607	T	0.09	-23.4147	18.3596	0.90371	0.0:1.0:0.0:0.0	.	766;801	Q6ZUT9;G3V1S3	DEN5B_HUMAN;.	K	766;801;801	ENSP00000373734:E766K;ENSP00000306482:E801K;ENSP00000444889:E801K	ENSP00000306482:E801K	E	-	1	0	DENND5B	31468831	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.316000	0.79007	2.631000	0.89168	0.655000	0.94253	GAA	DENND5B	-	NULL		0.522	DENND5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND5B	HGNC	protein_coding	OTTHUMT00000402040.1	C	NM_144973		31577564	-1	no_errors	ENST00000306833	ensembl	human	known	70_37	missense	SNP	1.000	T
ENO1	2023	genome.wustl.edu	37	1	8921484	8921484	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr1:8921484C>T	ENST00000234590.4	-	12	1359	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	414	Required for interaction with PLG. {ECO:0000250}.				carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of cell growth (GO:0030308)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphopyruvate hydratase complex (GO:0000015)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|magnesium ion binding (GO:0000287)|phosphopyruvate hydratase activity (GO:0004634)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		AGCTCCTCTTCAATTCTTGGG	0.493																																					Esophageal Squamous(21;302 608 19946 22210 33560)												0													61.0	57.0	58.0					1																	8921484		2203	4300	6503	SO:0001583	missense	2023			BC022545	CCDS97.1	1p36.2	2010-03-11			ENSG00000074800	ENSG00000074800	4.2.1.11		3350	protein-coding gene	gene with protein product		172430		ENO1L1, MPB1		9653645, 9691177	Standard	NM_001428		Approved	PPH, MBP-1	uc001apj.2	P06733	OTTHUMG00000001773	ENST00000234590.4:c.1240G>A	1.37:g.8921484C>T	ENSP00000234590:p.Glu414Lys		B2RD59|P22712|Q16704|Q4TUS4|Q53FT9|Q53HR3|Q658M5|Q6GMP2|Q71V37|Q7Z3V6|Q8WU71|Q96GV1|Q9BT62|Q9UCH6|Q9UM55	Missense_Mutation	SNP	pfam_Enolase_C,pfam_Enolase_N,pirsf_Enolase,prints_Enolase,tigrfam_Enolase	p.E414K	ENST00000234590.4	37	c.1240	CCDS97.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.427128	0.96131	.	.	ENSG00000074800	ENST00000234590	T	0.62105	0.05	5.53	5.53	0.82687	Enolase, C-terminal (1);	0.047737	0.85682	N	0.000000	D	0.84875	0.5569	M	0.93678	3.445	0.58432	D	0.999999	D;D;D;D	0.89917	0.998;0.998;0.998;1.0	D;D;D;D	0.76575	0.97;0.979;0.949;0.988	D	0.88600	0.3149	10	0.87932	D	0	-28.2448	18.461	0.90738	0.0:1.0:0.0:0.0	.	318;252;321;414	E2DRY6;Q9BT62;P06733-2;P06733	.;.;.;ENOA_HUMAN	K	414	ENSP00000234590:E414K	ENSP00000234590:E414K	E	-	1	0	ENO1	8844071	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	7.696000	0.84270	2.608000	0.88229	0.561000	0.74099	GAA	ENO1	-	pfam_Enolase_C,pirsf_Enolase,tigrfam_Enolase		0.493	ENO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENO1	HGNC	protein_coding	OTTHUMT00000004945.1	C	NM_001428		8921484	-1	no_errors	ENST00000234590	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC2A13	114134	genome.wustl.edu	37	12	40200929	40200929	+	Intron	SNP	G	G	A			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr12:40200929G>A	ENST00000280871.4	-	7	1496				AC121336.1_ENST00000411150.1_RNA	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				tacagttttcgccactgaaag	0.403										HNSCC(50;0.14)																																							0																																										SO:0001627	intron_variant	0			AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.1445+22975C>T	12.37:g.40200929G>A			Q17S07	RNA	SNP	-	NULL	ENST00000280871.4	37	NULL	CCDS8736.2	12																																																																																			AC121336.1	-	-		0.403	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000223082	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000132849.2	G			40200929	-1	no_errors	ENST00000411150	ensembl	human	novel	70_37	rna	SNP	0.008	A
DNM1P47	100216544	genome.wustl.edu	37	15	102293216	102293216	+	RNA	SNP	A	A	C	rs4965539		TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr15:102293216A>C	ENST00000561463.1	+	0	1262									DNM1 pseudogene 47																		AGGCGTCGGCAGAGCAGGCAG	0.597																																																	0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102293216A>C				RNA	SNP	-	NULL	ENST00000561463.1	37	NULL		15																																																																																			CTD-2611K5.6	-	-		0.597	DNM1P47-001	KNOWN	basic	processed_transcript	ENSG00000259660	Clone_based_vega_gene	pseudogene	OTTHUMT00000417589.1	A	NG_009149		102293216	+1	no_errors	ENST00000561463	ensembl	human	known	70_37	rna	SNP	0.887	C
DNM1P47	100216544	genome.wustl.edu	37	15	102293235	102293235	+	RNA	SNP	G	G	T	rs4965539		TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr15:102293235G>T	ENST00000561463.1	+	0	1281									DNM1 pseudogene 47																		AGACCAAGGAGTTCATCTTCT	0.572																																																	0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102293235G>T				RNA	SNP	-	NULL	ENST00000561463.1	37	NULL		15																																																																																			CTD-2611K5.6	-	-		0.572	DNM1P47-001	KNOWN	basic	processed_transcript	ENSG00000259660	Clone_based_vega_gene	pseudogene	OTTHUMT00000417589.1	G	NG_009149		102293235	+1	no_errors	ENST00000561463	ensembl	human	known	70_37	rna	SNP	1.000	T
ETS1	2113	genome.wustl.edu	37	11	128359203	128359203	+	Silent	SNP	G	G	A			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr11:128359203G>A	ENST00000319397.6	-	3	694	c.385C>T	c.(385-387)Cta>Tta	p.L129L	ETS1_ENST00000526145.2_Silent_p.L129L|ETS1_ENST00000392668.4_Silent_p.L173L|ETS1_ENST00000345075.4_Silent_p.L129L|ETS1_ENST00000531611.1_Silent_p.L129L|ETS1_ENST00000535549.1_Intron	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	129	PNT. {ECO:0000255|PROSITE- ProRule:PRU00762}.				angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		AGGATCTCTAGATGTTCCCAT	0.522																																																	0													201.0	199.0	199.0					11																	128359203		2201	4297	6498	SO:0001819	synonymous_variant	2113				CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.385C>T	11.37:g.128359203G>A			A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Silent	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pirsf_Transforming_factor_C-ets,pfscan_Ets,prints_Ets	p.L173	ENST00000319397.6	37	c.517	CCDS8475.1	11																																																																																			ETS1	-	pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,pirsf_Transforming_factor_C-ets		0.522	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ETS1	HGNC	protein_coding	OTTHUMT00000386269.2	G	NM_005238		128359203	-1	no_errors	ENST00000392668	ensembl	human	known	70_37	silent	SNP	1.000	A
FBXO41	150726	genome.wustl.edu	37	2	73495991	73495991	+	Silent	SNP	C	C	A			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr2:73495991C>A	ENST00000521871.1	-	2	1183	c.768G>T	c.(766-768)gcG>gcT	p.A256A	FBXO41_ENST00000520186.1_5'Flank|FBXO41_ENST00000520530.2_Silent_p.A256A|FBXO41_ENST00000295133.5_Silent_p.A317A			Q8TF61	FBX41_HUMAN	F-box protein 41	256										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GCCCGAGCCTCGCACTCTCCT	0.701																																																	0													19.0	26.0	24.0					2																	73495991		2128	4204	6332	SO:0001819	synonymous_variant	150726			AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"""F-boxes /  ""other"""""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.768G>T	2.37:g.73495991C>A			G3V0Z7|Q2M1V8	Silent	SNP	superfamily_F-box_dom_cyclin-like	p.A317	ENST00000521871.1	37	c.951	CCDS46337.2	2																																																																																			FBXO41	-	NULL		0.701	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FBXO41	HGNC	protein_coding	OTTHUMT00000377381.1	C			73495991	-1	no_errors	ENST00000295133	ensembl	human	known	70_37	silent	SNP	1.000	A
FSIP2	401024	genome.wustl.edu	37	2	186665466	186665466	+	Silent	SNP	T	T	C			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr2:186665466T>C	ENST00000424728.1	+	17	11433	c.11433T>C	c.(11431-11433)tgT>tgC	p.C3811C	FSIP2_ENST00000343098.5_Silent_p.C3900C|AC008174.3_ENST00000429929.1_RNA|AC008174.3_ENST00000436557.1_RNA			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	3811										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						GAATGGACTGTGAATGCCTTC	0.368																																																	0																																										SO:0001819	synonymous_variant	401024			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.11433T>C	2.37:g.186665466T>C			Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Silent	SNP	NULL	p.C3900	ENST00000424728.1	37	c.11700		2																																																																																			FSIP2	-	NULL		0.368	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	T	NM_173651		186665466	+1	no_errors	ENST00000343098	ensembl	human	known	70_37	silent	SNP	0.046	C
GABRG2	2566	genome.wustl.edu	37	5	161576257	161576257	+	Missense_Mutation	SNP	T	T	A			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr5:161576257T>A	ENST00000361925.4	+	8	1286	c.1066T>A	c.(1066-1068)Ttg>Atg	p.L356M	GABRG2_ENST00000414552.2_Missense_Mutation_p.L396M|GABRG2_ENST00000393933.4_Missense_Mutation_p.L261M|GABRG2_ENST00000356592.3_Missense_Mutation_p.L356M			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	356					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GTATGGCACCTTGCATTATTT	0.413																																																	0													200.0	167.0	179.0					5																	161576257		2203	4300	6503	SO:0001583	missense	2566				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.1066T>A	5.37:g.161576257T>A	ENSP00000354651:p.Leu356Met		F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.L356M	ENST00000361925.4	37	c.1066	CCDS4358.1	5	.	.	.	.	.	.	.	.	.	.	T	19.74	3.883554	0.72410	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933	D;D;D;D	0.84730	-1.89;-1.89;-1.89;-1.89	5.61	4.72	0.59763	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.138458	0.49916	D	0.000140	D	0.91781	0.7400	M	0.84082	2.675	0.52501	D	0.999952	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.92124	0.5706	10	0.87932	D	0	.	10.362	0.44001	0.0:0.8308:0.0:0.1692	.	396;356;356	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	M	356;396;356;261	ENSP00000349000:L356M;ENSP00000410732:L396M;ENSP00000354651:L356M;ENSP00000377510:L261M	ENSP00000349000:L356M	L	+	1	2	GABRG2	161508835	0.557000	0.26546	1.000000	0.80357	0.999000	0.98932	0.809000	0.27168	1.297000	0.44761	0.528000	0.53228	TTG	GABRG2	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,tigrfam_Neur_channel		0.413	GABRG2-002	KNOWN	basic|CCDS	protein_coding	GABRG2	HGNC	protein_coding	OTTHUMT00000252706.1	T			161576257	+1	no_errors	ENST00000356592	ensembl	human	known	70_37	missense	SNP	1.000	A
GPC6	10082	genome.wustl.edu	37	13	94197569	94197569	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr13:94197569G>C	ENST00000377047.4	+	2	829	c.214G>C	c.(214-216)Gaa>Caa	p.E72Q		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	72					carbohydrate metabolic process (GO:0005975)|cell migration (GO:0016477)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	anchored component of membrane (GO:0031225)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				CACAGAAATGGAAGACAAGTT	0.403																																																	0													157.0	144.0	148.0					13																	94197569		2203	4300	6503	SO:0001583	missense	10082			AF111178	CCDS9469.1	13q32	2008-02-05			ENSG00000183098	ENSG00000183098		"""Proteoglycans / Cell Surface : Glypicans"""	4454	protein-coding gene	gene with protein product	"""glypican proteoglycan 6"""	604404				10329016	Standard	NM_005708		Approved		uc001vlt.3	Q9Y625	OTTHUMG00000017205	ENST00000377047.4:c.214G>C	13.37:g.94197569G>C	ENSP00000366246:p.Glu72Gln		A8K279|Q96SG5|Q96SG8|Q9H1P4	Missense_Mutation	SNP	pfam_Glypican	p.E72Q	ENST00000377047.4	37	c.214	CCDS9469.1	13	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887017	0.91814	.	.	ENSG00000183098	ENST00000377047	T	0.73047	-0.71	5.0	5.0	0.66597	.	0.000000	0.64402	D	0.000001	D	0.86573	0.5965	M	0.87547	2.89	0.42926	D	0.994304	D;D	0.89917	0.998;1.0	D;D	0.87578	0.964;0.998	D	0.88800	0.3284	10	0.62326	D	0.03	.	18.7207	0.91692	0.0:0.0:1.0:0.0	.	72;72	B4E2M1;Q9Y625	.;GPC6_HUMAN	Q	72	ENSP00000366246:E72Q	ENSP00000366246:E72Q	E	+	1	0	GPC6	92995570	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.173000	0.94815	2.481000	0.83766	0.644000	0.83932	GAA	GPC6	-	pfam_Glypican		0.403	GPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPC6	HGNC	protein_coding	OTTHUMT00000045460.4	G	NM_005708		94197569	+1	no_errors	ENST00000377047	ensembl	human	known	70_37	missense	SNP	1.000	C
GRIP2	80852	genome.wustl.edu	37	3	14548415	14548415	+	RNA	SNP	C	C	T			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr3:14548415C>T	ENST00000273083.3	-	0	2356							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GGCCTCCTTTCAGGGCATCTG	0.642																																																	0													21.0	25.0	24.0					3																	14548415		2030	4173	6203			80852			AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14548415C>T			Q8TEH9|Q9H7H3	RNA	SNP	-	NULL	ENST00000273083.3	37	NULL		3																																																																																			GRIP2	-	-		0.642	GRIP2-001	KNOWN	basic	processed_transcript	GRIP2	HGNC	processed_transcript	OTTHUMT00000340582.2	C	NM_001080423		14548415	-1	no_errors	ENST00000273083	ensembl	human	known	70_37	rna	SNP	0.017	T
GRXCR1	389207	genome.wustl.edu	37	4	42965046	42965046	+	Silent	SNP	C	C	T			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr4:42965046C>T	ENST00000399770.2	+	2	522	c.522C>T	c.(520-522)aaC>aaT	p.N174N		NM_001080476.2	NP_001073945.1	A8MXD5	GRCR1_HUMAN	glutaredoxin, cysteine rich 1	174	Glutaredoxin. {ECO:0000255|PROSITE- ProRule:PRU00686}.				auditory receptor cell differentiation (GO:0042491)|cell redox homeostasis (GO:0045454)|inner ear receptor cell development (GO:0060119)|inner ear receptor stereocilium organization (GO:0060122)|negative regulation of phosphatase activity (GO:0010923)|post-embryonic organ morphogenesis (GO:0048563)|sensory perception of sound (GO:0007605)|vestibular receptor cell development (GO:0060118)	kinocilium (GO:0060091)|stereocilium (GO:0032420)	electron carrier activity (GO:0009055)|protein disulfide oxidoreductase activity (GO:0015035)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(22)|ovary(1)|prostate(2)|skin(1)	32						AAGAGAAAAACATAGCCCTGA	0.433																																																	0													245.0	243.0	244.0					4																	42965046		1872	4109	5981	SO:0001819	synonymous_variant	389207				CCDS43225.1	4p14	2014-06-12			ENSG00000215203	ENSG00000215203			31673	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 88"""	613283	"""deafness, autosomal recessive 25"""	DFNB25		20137778	Standard	NM_001080476		Approved	PPP1R88	uc003gwt.3	A8MXD5	OTTHUMG00000160434	ENST00000399770.2:c.522C>T	4.37:g.42965046C>T				Silent	SNP	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom	p.N174	ENST00000399770.2	37	c.522	CCDS43225.1	4																																																																																			GRXCR1	-	pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold		0.433	GRXCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRXCR1	HGNC	protein_coding	OTTHUMT00000360576.1	C	NM_001080476		42965046	+1	no_errors	ENST00000399770	ensembl	human	known	70_37	silent	SNP	1.000	T
HMCN1	83872	genome.wustl.edu	37	1	185880836	185880836	+	Missense_Mutation	SNP	A	A	C	rs368798833		TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr1:185880836A>C	ENST00000271588.4	+	6	1053	c.824A>C	c.(823-825)cAt>cCt	p.H275P	HMCN1_ENST00000367492.2_Missense_Mutation_p.H275P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	275					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTTGGCCTGCATGAGCTATTA	0.393																																																	0								A	PRO/HIS	1,4405	2.1+/-5.4	0,1,2202	212.0	226.0	221.0		824	5.6	1.0	1		221	0,8600		0,0,4300	no	missense	HMCN1	NM_031935.2	77	0,1,6502	CC,CA,AA		0.0,0.0227,0.0077	benign	275/5636	185880836	1,13005	2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.824A>C	1.37:g.185880836A>C	ENSP00000271588:p.His275Pro		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.H275P	ENST00000271588.4	37	c.824	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	A	14.74	2.625771	0.46840	2.27E-4	0.0	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.63744	-0.05;-0.06	5.63	5.63	0.86233	.	0.145325	0.64402	D	0.000011	T	0.41026	0.1141	N	0.03608	-0.345	0.25391	N	0.988526	B	0.06786	0.001	B	0.01281	0.0	T	0.29701	-1.0003	10	0.36615	T	0.2	.	16.1327	0.81454	1.0:0.0:0.0:0.0	.	275	Q96RW7	HMCN1_HUMAN	P	275	ENSP00000271588:H275P;ENSP00000356462:H275P	ENSP00000271588:H275P	H	+	2	0	HMCN1	184147459	1.000000	0.71417	0.994000	0.49952	0.928000	0.56348	4.014000	0.57145	2.269000	0.75478	0.454000	0.30748	CAT	HMCN1	-	NULL		0.393	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	A	NM_031935		185880836	+1	no_errors	ENST00000271588	ensembl	human	known	70_37	missense	SNP	1.000	C
IP6K3	117283	genome.wustl.edu	37	6	33690845	33690845	+	Silent	SNP	C	C	T			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr6:33690845C>T	ENST00000293756.4	-	6	1211	c.885G>A	c.(883-885)cgG>cgA	p.R295R	IP6K3_ENST00000451316.1_Silent_p.R295R	NM_054111.4	NP_473452.2	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	295					inositol phosphate biosynthetic process (GO:0032958)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol metabolic process (GO:0046488)|protein phosphorylation (GO:0006468)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol hexakisphosphate 6-kinase activity (GO:0000831)|inositol-1,4,5-trisphosphate 3-kinase activity (GO:0008440)			skin(1)	1						GGAGCTCCCTCCGGAGGTGGC	0.522																																																	0													46.0	53.0	50.0					6																	33690845		2203	4300	6503	SO:0001819	synonymous_variant	117283			AF393812	CCDS34435.1	6p21.31	2009-01-05	2009-01-05	2008-12-22	ENSG00000161896	ENSG00000161896			17269	protein-coding gene	gene with protein product		606993	"""inositol hexaphosphate kinase 3"""	IHPK3		11502751	Standard	NM_054111		Approved	INSP6K3	uc003ofb.2	Q96PC2	OTTHUMG00000014531	ENST00000293756.4:c.885G>A	6.37:g.33690845C>T			Q96MQ9	Silent	SNP	pfam_IPK	p.R295	ENST00000293756.4	37	c.885	CCDS34435.1	6																																																																																			IP6K3	-	pfam_IPK		0.522	IP6K3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IP6K3	HGNC	protein_coding	OTTHUMT00000040203.1	C	NM_054111		33690845	-1	no_errors	ENST00000293756	ensembl	human	known	70_37	silent	SNP	0.001	T
ITIH6	347365	genome.wustl.edu	37	X	54824609	54824609	+	Missense_Mutation	SNP	A	A	T			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chrX:54824609A>T	ENST00000218436.6	-	1	64	c.35T>A	c.(34-36)tTt>tAt	p.F12Y		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	12					hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										GGTCAGCAAAAAGCTGACACA	0.517																																																	0													70.0	55.0	60.0					X																	54824609		2202	4297	6499	SO:0001583	missense	347365			AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.35T>A	X.37:g.54824609A>T	ENSP00000218436:p.Phe12Tyr		A6NN03	Missense_Mutation	SNP	pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.F12Y	ENST00000218436.6	37	c.35	CCDS14361.1	X	.	.	.	.	.	.	.	.	.	.	A	7.735	0.700073	0.15106	.	.	ENSG00000102313	ENST00000218436	T	0.02280	4.36	5.21	4.01	0.46588	.	2.126410	0.04598	U	0.397913	T	0.02688	0.0081	N	0.22421	0.69	0.09310	N	1	P	0.48089	0.905	B	0.43413	0.419	T	0.47142	-0.9140	10	0.30078	T	0.28	.	6.6052	0.22721	0.8802:0.0:0.1198:0.0	.	12	Q6UXX5	ITH5L_HUMAN	Y	12	ENSP00000218436:F12Y	ENSP00000218436:F12Y	F	-	2	0	ITIH5L	54841334	0.893000	0.30496	0.003000	0.11579	0.192000	0.23643	1.638000	0.37165	0.703000	0.31848	-0.438000	0.05819	TTT	ITIH6	-	NULL		0.517	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH6	HGNC	protein_coding	OTTHUMT00000056814.2	A	NM_198510		54824609	-1	no_errors	ENST00000218436	ensembl	human	known	70_37	missense	SNP	0.011	T
KDM3A	55818	genome.wustl.edu	37	2	86707395	86707395	+	Frame_Shift_Del	DEL	G	G	-			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr2:86707395delG	ENST00000409556.1	+	17	2787	c.2422delG	c.(2422-2424)ggcfs	p.G808fs	KDM3A_ENST00000312912.5_Frame_Shift_Del_p.G808fs|KDM3A_ENST00000409064.1_Frame_Shift_Del_p.G808fs|KDM3A_ENST00000542128.1_Frame_Shift_Del_p.G756fs			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	808					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.G808R(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CAAGCCAGCCGGCAGCATGAA	0.562																																					NSCLC(96;1150 1523 6936 46253 49736)												2	Substitution - Missense(2)	prostate(2)											68.0	74.0	72.0					2																	86707395		2203	4300	6503	SO:0001589	frameshift_variant	55818			AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.2422delG	2.37:g.86707395delG	ENSP00000386660:p.Gly808fs		D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Frame_Shift_Del	DEL	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.G808fs	ENST00000409556.1	37	c.2422	CCDS1990.1	2																																																																																			KDM3A	-	NULL		0.562	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3A	HGNC	protein_coding	OTTHUMT00000252522.2	G	NM_018433		86707395	+1	no_errors	ENST00000312912	ensembl	human	known	70_37	frame_shift_del	DEL	0.000	-
KNDC1	85442	genome.wustl.edu	37	10	135015330	135015330	+	Silent	SNP	C	C	T			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr10:135015330C>T	ENST00000304613.3	+	17	3336	c.3315C>T	c.(3313-3315)gcC>gcT	p.A1105A	KNDC1_ENST00000368571.2_Silent_p.A1040A|KNDC1_ENST00000368572.2_Silent_p.A1107A			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1105					cerebellar granule cell differentiation (GO:0021707)|positive regulation of protein phosphorylation (GO:0001934)|regulation of dendrite morphogenesis (GO:0048814)|small GTPase mediated signal transduction (GO:0007264)	dendrite (GO:0030425)|guanyl-nucleotide exchange factor complex (GO:0032045)|neuronal cell body (GO:0043025)	protein serine/threonine kinase activity (GO:0004674)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)			NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GCTTCGGGGCCGACGTCCACA	0.726																																																	0													5.0	6.0	6.0					10																	135015330		2114	4165	6279	SO:0001819	synonymous_variant	85442			AK074179	CCDS7674.1	10q26.3	2004-09-14	2004-04-07		ENSG00000171798	ENSG00000171798			29374	protein-coding gene	gene with protein product			"""RasGEF domain family, member 2"""	RASGEF2, C10orf23		11214970	Standard	NM_152643		Approved	KIAA1768, bB439H18.3, FLJ25027	uc001llz.1	Q76NI1	OTTHUMG00000019303	ENST00000304613.3:c.3315C>T	10.37:g.135015330C>T			B0QZC5|Q5T233|Q6ZNH8|Q8TEE5|Q96LV7|Q9C095	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.A1107	ENST00000304613.3	37	c.3321	CCDS7674.1	10																																																																																			KNDC1	-	NULL		0.726	KNDC1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	KNDC1	HGNC	protein_coding	OTTHUMT00000277044.3	C	NM_152643		135015330	+1	no_errors	ENST00000368572	ensembl	human	known	70_37	silent	SNP	0.055	T
LRP2	4036	genome.wustl.edu	37	2	170103431	170103431	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr2:170103431G>A	ENST00000263816.3	-	21	3259	c.2974C>T	c.(2974-2976)Cca>Tca	p.P992S	LRP2_ENST00000443831.1_Missense_Mutation_p.P855S	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	992	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	TGGAAATTTGGCACCGGGAAG	0.547																																																	0													69.0	64.0	66.0					2																	170103431		2203	4300	6503	SO:0001583	missense	4036				CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.2974C>T	2.37:g.170103431G>A	ENSP00000263816:p.Pro992Ser		O00711|Q16215	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.P992S	ENST00000263816.3	37	c.2974	CCDS2232.1	2	.	.	.	.	.	.	.	.	.	.	G	27.0	4.790435	0.90367	.	.	ENSG00000081479	ENST00000263816;ENST00000443831	T;T	0.44482	0.92;0.92	5.79	5.79	0.91817	Epidermal growth factor-like (1);	0.000000	0.85682	D	0.000000	T	0.67924	0.2945	M	0.78285	2.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.66360	-0.5943	10	0.45353	T	0.12	.	20.0313	0.97540	0.0:0.0:1.0:0.0	.	855;992	E9PC35;P98164	.;LRP2_HUMAN	S	992;855	ENSP00000263816:P992S;ENSP00000409813:P855S	ENSP00000263816:P992S	P	-	1	0	LRP2	169811677	1.000000	0.71417	0.991000	0.47740	0.534000	0.34807	9.488000	0.97947	2.746000	0.94184	0.655000	0.94253	CCA	LRP2	-	smart_EG-like_dom		0.547	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP2	HGNC	protein_coding	OTTHUMT00000255231.2	G	NM_004525		170103431	-1	no_errors	ENST00000263816	ensembl	human	known	70_37	missense	SNP	1.000	A
MALAT1	378938	genome.wustl.edu	37	11	65273634	65273635	+	lincRNA	INS	-	-	CTG			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr11:65273634_65273635insCTG	ENST00000534336.1	+	0	8402_8403					NR_002819.2		Q9UHZ2	MALAT_HUMAN	metastasis associated lung adenocarcinoma transcript 1 (non-protein coding)																		GGTTCAAATCCCTGCGGCGTCT	0.446																																																	0																																												378938			AF001540		11q13.1	2013-12-11	2007-11-20		ENSG00000251562	ENSG00000251562		"""Long non-coding RNAs"", ""-"""	29665	non-coding RNA	RNA, long non-coding	"""metastasis associated in lung adenocarcinoma transcript 1"", ""non-protein coding RNA 47"", ""hepcarcin"", ""nuclear enriched abundant transcript 2"", ""nuclear paraspeckle assembly transcript 2 (non-protein coding)"", ""long intergenic non-protein coding RNA 47"""	607924				12970751, 22560368	Standard	NR_002819		Approved	PRO1073, MALAT-1, NCRNA00047, HCN, NEAT2, LINC00047, mascRNA	uc010roh.3	Q9UHZ2	OTTHUMG00000166322		11.37:g.65273635_65273637dupCTG				RNA	INS	-	NULL	ENST00000534336.1	37	NULL		11																																																																																			MALAT1	-	-		0.446	MALAT1-001	KNOWN	basic	lincRNA	MALAT1	HGNC	lincRNA	OTTHUMT00000389143.1	-	NR_002819		65273635	+1	no_errors	ENST00000534336	ensembl	human	known	70_37	rna	INS	1.000:1.000	CTG
MAP2K3	5606	genome.wustl.edu	37	17	21215501	21215501	+	Silent	SNP	G	G	A			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr17:21215501G>A	ENST00000342679.4	+	10	1071	c.822G>A	c.(820-822)ccG>ccA	p.P274P	MAP2K3_ENST00000316920.6_Silent_p.P245P|MAP2K3_ENST00000361818.5_Silent_p.P245P	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	274	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|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)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GGGGGACCCCGTTCCAGCAGC	0.642																																																	0													60.0	58.0	59.0					17																	21215501		2203	4300	6503	SO:0001819	synonymous_variant	5606			L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.822G>A	17.37:g.21215501G>A			B3KSK7|Q99441|Q9UE71|Q9UE72	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P274	ENST00000342679.4	37	c.822	CCDS11217.1	17																																																																																			MAP2K3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.642	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP2K3	HGNC	protein_coding	OTTHUMT00000259374.2	G	NM_145109		21215501	+1	no_errors	ENST00000342679	ensembl	human	known	70_37	silent	SNP	0.016	A
SPATA32	124783	genome.wustl.edu	37	17	43340706	43340706	+	5'Flank	SNP	G	G	A			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr17:43340706G>A	ENST00000331780.4	-	0	0				MAP3K14-AS1_ENST00000590100.1_RNA|SPATA32_ENST00000543122.1_5'Flank|MAP3K14_ENST00000344686.2_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA	NM_152343.2	NP_689556.2	Q96LK8	SPT32_HUMAN	spermatogenesis associated 32						spermatogenesis (GO:0007283)	perinuclear region of cytoplasm (GO:0048471)											CCTGCCCCAGGAGGTTGAGGC	0.572																																																	0																																										SO:0001631	upstream_gene_variant	9020			AK058143	CCDS32669.1	17q21.31	2013-10-11	2012-10-08	2012-10-08	ENSG00000184361	ENSG00000184361			26349	protein-coding gene	gene with protein product	"""acrosome expressed 2"""		"""chromosome 17 open reading frame 46"", ""testis expressed 34"""	C17orf46, TEX34		18621766	Standard	NM_152343		Approved	FLJ25414, AEP2, VAD1.2	uc002iis.1	Q96LK8	OTTHUMG00000180363		17.37:g.43340706G>A	Exception_encountered		Q7Z4U1|Q8N6V6	RNA	SNP	-	NULL	ENST00000331780.4	37	NULL	CCDS32669.1	17																																																																																			MAP3K14	-	-		0.572	SPATA32-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP3K14	HGNC	protein_coding	OTTHUMT00000450946.1	G	NM_152343		43340706	-1	no_errors	ENST00000344686	ensembl	human	known	70_37	rna	SNP	0.004	A
MEG3	55384	genome.wustl.edu	37	14	101300594	101300594	+	RNA	SNP	C	C	G			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr14:101300594C>G	ENST00000554041.1	-	0	578																											CCATGGCACTCTCCTCACCCT	0.498																																																	0																																												55384																															14.37:g.101300594C>G				RNA	SNP	-	NULL	ENST00000554041.1	37	NULL		14																																																																																			MEG3	-	-		0.498	RP11-123M6.2-001	KNOWN	basic	antisense	MEG3	HGNC	antisense	OTTHUMT00000414687.1	C			101300594	+1	no_errors	ENST00000398461	ensembl	human	known	70_37	rna	SNP	0.044	G
MFSD6L	162387	genome.wustl.edu	37	17	8701915	8701915	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr17:8701915G>C	ENST00000329805.4	-	1	752	c.524C>G	c.(523-525)tCc>tGc	p.S175C		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	175						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						TCCTTCAACGGAGGGCGCTAA	0.532																																																	0													120.0	112.0	115.0					17																	8701915		2203	4300	6503	SO:0001583	missense	162387			AK093092	CCDS11146.1	17p13.1	2014-05-30			ENSG00000185156	ENSG00000185156			26656	protein-coding gene	gene with protein product							Standard	NM_152599		Approved	FLJ35773	uc002glp.2	Q8IWD5	OTTHUMG00000178584	ENST00000329805.4:c.524C>G	17.37:g.8701915G>C	ENSP00000330051:p.Ser175Cys		Q6YL34|Q8NA76	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.S175C	ENST00000329805.4	37	c.524	CCDS11146.1	17	.	.	.	.	.	.	.	.	.	.	G	15.12	2.739823	0.49045	.	.	ENSG00000185156	ENST00000329805	T	0.52526	0.66	4.75	3.71	0.42584	.	0.651152	0.14340	N	0.325797	T	0.64746	0.2626	M	0.73598	2.24	0.09310	N	1	D	0.76494	0.999	D	0.66497	0.944	T	0.53401	-0.8444	10	0.45353	T	0.12	-5.9128	11.887	0.52608	0.0:0.0:0.8148:0.1851	.	175	Q8IWD5	MFS6L_HUMAN	C	175	ENSP00000330051:S175C	ENSP00000330051:S175C	S	-	2	0	MFSD6L	8642640	0.254000	0.23992	0.023000	0.16930	0.003000	0.03518	2.912000	0.48782	2.443000	0.82685	0.655000	0.94253	TCC	MFSD6L	-	NULL		0.532	MFSD6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD6L	HGNC	protein_coding	OTTHUMT00000442554.1	G	NM_152599		8701915	-1	no_errors	ENST00000329805	ensembl	human	known	70_37	missense	SNP	0.003	C
KMT2C	58508	genome.wustl.edu	37	7	151849976	151849976	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr7:151849976C>T	ENST00000262189.6	-	49	12558	c.12340G>A	c.(12340-12342)Gag>Aag	p.E4114K	KMT2C_ENST00000485241.1_5'UTR|KMT2C_ENST00000355193.2_Missense_Mutation_p.E4171K	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	4114					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CTGCTAACCTCATAGCTGTTA	0.478																																																	0													123.0	120.0	121.0					7																	151849976		2203	4300	6503	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.12340G>A	7.37:g.151849976C>T	ENSP00000262189:p.Glu4114Lys		Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	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_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.E4171K	ENST00000262189.6	37	c.12511	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936187	0.73442	.	.	ENSG00000055609	ENST00000262189;ENST00000355193;ENST00000424877	D;D;D	0.92099	-2.3;-2.24;-2.97	5.84	5.84	0.93424	.	0.000000	0.45126	U	0.000400	D	0.96100	0.8729	M	0.76574	2.34	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.996;0.997;0.997	D	0.95499	0.8576	10	0.54805	T	0.06	.	20.139	0.98050	0.0:1.0:0.0:0.0	.	4114;3232;4171	Q8NEZ4;Q8NEZ4-2;Q8NEZ4-3	MLL3_HUMAN;.;.	K	4114;4171;731	ENSP00000262189:E4114K;ENSP00000347325:E4171K;ENSP00000410411:E731K	ENSP00000262189:E4114K	E	-	1	0	MLL3	151480909	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.026000	0.70873	2.764000	0.94973	0.655000	0.94253	GAG	MLL3	-	NULL		0.478	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	C			151849976	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	missense	SNP	1.000	T
MLST8	64223	genome.wustl.edu	37	16	2256404	2256404	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr16:2256404G>T	ENST00000569417.1	+	3	529	c.175G>T	c.(175-177)Gct>Tct	p.A59S	MLST8_ENST00000397124.1_Missense_Mutation_p.A59S|MLST8_ENST00000382450.4_Missense_Mutation_p.A58S|MLST8_ENST00000301724.10_Missense_Mutation_p.A59S|AC009065.3_ENST00000517149.1_RNA|MLST8_ENST00000301725.7_Missense_Mutation_p.A78S|MLST8_ENST00000565250.1_Missense_Mutation_p.A59S|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000564088.1_Missense_Mutation_p.A59S	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	59					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of TOR signaling (GO:0032008)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of Rac GTPase activity (GO:0032314)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				large_intestine(3)|lung(2)|skin(1)	6						CATGATTGCTGCTGCAGGTAT	0.577																																																	0													117.0	117.0	117.0					16																	2256404		2027	4177	6204	SO:0001583	missense	64223				CCDS10462.2, CCDS58409.1	16p13.3	2013-01-09			ENSG00000167965	ENSG00000167965		"""WD repeat domain containing"""	24825	protein-coding gene	gene with protein product	"""G protein beta subunit like"""	612190				12477932	Standard	NM_022372		Approved	Lst8, Pop3, GBL, GbetaL	uc002cpc.3	Q9BVC4	OTTHUMG00000128827	ENST00000569417.1:c.175G>T	16.37:g.2256404G>T	ENSP00000456405:p.Ala59Ser		B3KMM4|B4DY00|D3DU88|Q5M800|Q86Y18|Q8WUI5|Q9HA66|Q9UJV6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.A59S	ENST00000569417.1	37	c.175	CCDS10462.2	16	.	.	.	.	.	.	.	.	.	.	G	16.01	3.002654	0.54254	.	.	ENSG00000167965	ENST00000382450;ENST00000301724;ENST00000397124;ENST00000301725	T;T;T;T	0.60672	1.01;1.72;1.18;0.17	5.2	4.24	0.50183	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.58235	0.2108	L	0.58925	1.835	0.80722	D	1	D;B;D	0.57571	0.976;0.356;0.98	B;B;P	0.51945	0.437;0.197;0.685	T	0.54351	-0.8307	10	0.09338	T	0.73	-17.2661	11.9028	0.52692	0.0856:0.0:0.9144:0.0	.	59;78;59	B4E2R3;Q9BVC4-4;Q9BVC4	.;.;LST8_HUMAN	S	59;59;59;78	ENSP00000371888:A59S;ENSP00000301724:A59S;ENSP00000380313:A59S;ENSP00000301725:A78S	ENSP00000301724:A59S	A	+	1	0	MLST8	2196405	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	7.847000	0.86896	2.418000	0.82041	0.511000	0.50034	GCT	MLST8	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.577	MLST8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MLST8	HGNC	protein_coding	OTTHUMT00000250763.2	G	NM_022372		2256404	+1	no_errors	ENST00000397124	ensembl	human	known	70_37	missense	SNP	0.997	T
MS4A14	84689	genome.wustl.edu	37	11	60183703	60183703	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr11:60183703C>T	ENST00000300187.6	+	5	1539	c.1262C>T	c.(1261-1263)aCa>aTa	p.T421I	MS4A14_ENST00000395005.2_Missense_Mutation_p.T404I|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531783.1_Missense_Mutation_p.T454I|MS4A14_ENST00000531787.1_Missense_Mutation_p.T309I	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	421						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						GAAGCCTCAACATCCCATATT	0.463																																																	0													98.0	92.0	94.0					11																	60183703		2203	4300	6503	SO:0001583	missense	84689			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.1262C>T	11.37:g.60183703C>T	ENSP00000300187:p.Thr421Ile		E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	pfam_CD20-like	p.T421I	ENST00000300187.6	37	c.1262	CCDS31569.1	11	.	.	.	.	.	.	.	.	.	.	C	12.40	1.927782	0.34002	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.37411	1.2;2.42;1.21;2.76	2.72	0.733	0.18289	.	.	.	.	.	T	0.18130	0.0435	N	0.24115	0.695	0.09310	N	1	P;B	0.37101	0.582;0.447	B;B	0.31614	0.133;0.063	T	0.13124	-1.0521	9	0.46703	T	0.11	-0.9644	2.6956	0.05134	0.2835:0.5504:0.0:0.1661	.	404;421	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	I	309;421;404;454	ENSP00000437222:T309I;ENSP00000300187:T421I;ENSP00000378453:T404I;ENSP00000433761:T454I	ENSP00000300187:T421I	T	+	2	0	MS4A14	59940279	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.451000	0.06795	0.184000	0.20083	-0.188000	0.12872	ACA	MS4A14	-	NULL		0.463	MS4A14-002	KNOWN	basic|CCDS	protein_coding	MS4A14	HGNC	protein_coding	OTTHUMT00000395383.2	C			60183703	+1	no_errors	ENST00000300187	ensembl	human	known	70_37	missense	SNP	0.000	T
MYH9	4627	genome.wustl.edu	37	22	36697588	36697588	+	Nonsense_Mutation	SNP	G	G	A			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr22:36697588G>A	ENST00000216181.5	-	21	2853	c.2623C>T	c.(2623-2625)Cag>Tag	p.Q875*		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	875					actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						ACCTGAGACTGCAGCGTCTCC	0.627			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated		OREG0026520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	0													152.0	102.0	119.0					22																	36697588		2202	4300	6502	SO:0001587	stop_gained	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2623C>T	22.37:g.36697588G>A	ENSP00000216181:p.Gln875*	864	A8K6E4|O60805|Q60FE2|Q86T83	Nonsense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q875*	ENST00000216181.5	37	c.2623	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	G	42	9.369706	0.99150	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	.	.	.	6.08	5.07	0.68467	.	0.180007	0.50627	D	0.000120	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	15.2552	0.73579	0.0668:0.0:0.9331:0.0	.	.	.	.	X	739;875	.	ENSP00000216181:Q875X	Q	-	1	0	MYH9	35027534	1.000000	0.71417	0.391000	0.26233	0.347000	0.29111	9.697000	0.98697	1.586000	0.49944	0.655000	0.94253	CAG	MYH9	-	NULL		0.627	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	G	NM_002473		36697588	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	nonsense	SNP	0.991	A
NCAM1	4684	genome.wustl.edu	37	11	113146829	113146829	+	3'UTR	SNP	G	G	C			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr11:113146829G>C	ENST00000397957.4	+	0	3508				NCAM1-AS1_ENST00000526229.1_RNA|NCAM1_ENST00000316851.7_3'UTR|RP11-839D17.3_ENST00000529416.1_RNA|RP11-839D17.3_ENST00000526487.1_RNA|NCAM1-AS1_ENST00000533638.1_RNA			P13591	NCAM1_HUMAN	neural cell adhesion molecule 1						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TTGTTTTCCAGTGTTTACAAG	0.343																																																	0																																										SO:0001624	3_prime_UTR_variant	4684				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000397957.4:c.*3505G>C	11.37:g.113146829G>C			A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	RNA	SNP	-	NULL	ENST00000397957.4	37	NULL		11																																																																																			NCAM1	-	-		0.343	NCAM1-001	KNOWN	basic	processed_transcript	NCAM1	HGNC	protein_coding	OTTHUMT00000393677.2	G	NM_000615		113146829	+1	no_errors	ENST00000397957	ensembl	human	known	70_37	rna	SNP	1.000	C
OGT	8473	genome.wustl.edu	37	X	70777114	70777114	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chrX:70777114G>C	ENST00000373719.3	+	11	1607	c.1390G>C	c.(1390-1392)Gat>Cat	p.D464H	OGT_ENST00000373701.3_Missense_Mutation_p.D454H	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	464					apoptotic process (GO:0006915)|cellular response to retinoic acid (GO:0071300)|chromatin organization (GO:0006325)|circadian regulation of gene expression (GO:0032922)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of protein ubiquitination (GO:0031397)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of catalytic activity (GO:0043085)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K27 methylation (GO:0061087)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glycolytic process (GO:0006110)|regulation of insulin receptor signaling pathway (GO:0046626)|regulation of Rac protein signal transduction (GO:0035020)|response to insulin (GO:0032868)|response to nutrient (GO:0007584)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone acetyltransferase complex (GO:0000123)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)|MLL5-L complex (GO:0070688)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	acetylglucosaminyltransferase activity (GO:0008375)|enzyme activator activity (GO:0008047)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein N-acetylglucosaminyltransferase activity (GO:0016262)|protein O-GlcNAc transferase activity (GO:0097363)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TGATTTTCCTGATGCTTATTG	0.388																																																	0													54.0	49.0	51.0					X																	70777114		2202	4300	6502	SO:0001583	missense	8473			U77413	CCDS14414.1, CCDS35502.1	Xq13	2013-07-24	2012-05-04		ENSG00000147162	ENSG00000147162	2.4.1.255	"""Tetratricopeptide (TTC) repeat domain containing"""	8127	protein-coding gene	gene with protein product	"""UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase"""	300255	"""O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)"""			9083068	Standard	NM_181672		Approved	O-GLCNAC, HRNT1, MGC22921, FLJ23071	uc004eaa.2	O15294	OTTHUMG00000033316	ENST00000373719.3:c.1390G>C	X.37:g.70777114G>C	ENSP00000362824:p.Asp464His		Q7Z3K0|Q8WWM8|Q96CC1|Q9UG57	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D464H	ENST00000373719.3	37	c.1390	CCDS14414.1	X	.	.	.	.	.	.	.	.	.	.	G	23.8	4.456925	0.84317	.	.	ENSG00000147162	ENST00000373719;ENST00000373701	T;T	0.18174	2.23;2.23	5.57	5.57	0.84162	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.52869	0.1761	M	0.91717	3.235	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.992;0.999;0.99	T	0.62760	-0.6786	10	0.54805	T	0.06	-33.0708	18.5742	0.91149	0.0:0.0:1.0:0.0	.	338;454;464	Q548W1;O15294-3;O15294	.;.;OGT1_HUMAN	H	464;454	ENSP00000362824:D464H;ENSP00000362805:D454H	ENSP00000362805:D454H	D	+	1	0	OGT	70693839	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.791000	0.99081	2.329000	0.79093	0.594000	0.82650	GAT	OGT	-	pfscan_TPR-contain_dom		0.388	OGT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OGT	HGNC	protein_coding	OTTHUMT00000081829.3	G	NM_003605, NM_181672		70777114	+1	no_errors	ENST00000373719	ensembl	human	known	70_37	missense	SNP	1.000	C
ONECUT2	9480	genome.wustl.edu	37	18	55143878	55143878	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr18:55143878C>T	ENST00000491143.2	+	2	1470	c.1438C>T	c.(1438-1440)Cgc>Tgc	p.R480C		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	480					cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		CGCCCGGCGCCGCAGCCTGGA	0.587																																																	0													39.0	44.0	42.0					18																	55143878		2074	4235	6309	SO:0001583	missense	9480			Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"""Homeoboxes / CUT class"""	8139	protein-coding gene	gene with protein product		604894	"""one cut domain, family member 2"""			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.1438C>T	18.37:g.55143878C>T	ENSP00000419185:p.Arg480Cys			Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.R480C	ENST00000491143.2	37	c.1438	CCDS42440.1	18	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.5|23.5	4.422261|4.422261	0.83559|0.83559	.|.	.|.	ENSG00000119547|ENSG00000119547	ENST00000481727|ENST00000491143;ENST00000262095	.|.	.|.	.|.	6.02|6.02	6.02|6.02	0.97574|0.97574	.|Homeobox (3);Homeodomain-like (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.86146|0.86146	0.5863|0.5863	M|M	0.93939|0.93939	3.475|3.475	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.85130	.|0.997	D|D	0.88828|0.88828	0.3303|0.3303	5|9	.|0.87932	.|D	.|0	-20.3104|-20.3104	14.919|14.919	0.70822|0.70822	0.1432:0.8568:0.0:0.0|0.1432:0.8568:0.0:0.0	.|.	.|480	.|O95948	.|ONEC2_HUMAN	L|C	108|461;480	.|.	.|ENSP00000262095:R480C	P|R	+|+	2|1	0|0	ONECUT2|ONECUT2	53294876|53294876	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	4.680000|4.680000	0.61656|0.61656	2.857000|2.857000	0.98124|0.98124	0.650000|0.650000	0.86243|0.86243	CCG|CGC	ONECUT2	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.587	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ONECUT2	HGNC	protein_coding	OTTHUMT00000357264.3	C			55143878	+1	no_errors	ENST00000262095	ensembl	human	known	70_37	missense	SNP	1.000	T
OR4C6	219432	genome.wustl.edu	37	11	55432790	55432790	+	Missense_Mutation	SNP	A	A	T	rs200014503		TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr11:55432790A>T	ENST00000314259.3	+	1	177	c.148A>T	c.(148-150)Agt>Tgt	p.S50C		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	50						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TATTATCACAAGTCAGAGTCT	0.408																																																	0													280.0	250.0	260.0					11																	55432790		2200	4296	6496	SO:0001583	missense	219432			CR593785	CCDS31506.1	11q11	2012-08-09			ENSG00000181903	ENSG00000181903		"""GPCR / Class A : Olfactory receptors"""	14743	protein-coding gene	gene with protein product							Standard	NM_001004704		Approved		uc010rik.2	Q8NH72	OTTHUMG00000166800	ENST00000314259.3:c.148A>T	11.37:g.55432790A>T	ENSP00000324769:p.Ser50Cys		B2RP11|Q6IFD2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S50C	ENST00000314259.3	37	c.148	CCDS31506.1	11	.	.	.	.	.	.	.	.	.	.	A	13.90	2.375612	0.42105	.	.	ENSG00000181903	ENST00000314259	T	0.01113	5.32	3.83	2.58	0.30949	GPCR, rhodopsin-like superfamily (1);	0.153264	0.30593	N	0.009294	T	0.04952	0.0133	M	0.84219	2.685	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.18681	-1.0329	10	0.87932	D	0	.	2.8612	0.05588	0.508:0.0:0.1157:0.3763	.	50	Q8NH72	OR4C6_HUMAN	C	50	ENSP00000324769:S50C	ENSP00000324769:S50C	S	+	1	0	OR4C6	55189366	0.000000	0.05858	0.010000	0.14722	0.041000	0.13682	-0.874000	0.04210	1.387000	0.46486	0.444000	0.29173	AGT	OR4C6	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.408	OR4C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4C6	HGNC	protein_coding	OTTHUMT00000391504.1	A	NM_001004704		55432790	+1	no_errors	ENST00000314259	ensembl	human	known	70_37	missense	SNP	0.001	T
OR10AG1	282770	genome.wustl.edu	37	11	55735637	55735637	+	Silent	SNP	C	C	T			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr11:55735637C>T	ENST00000312345.2	-	1	353	c.303G>A	c.(301-303)acG>acA	p.T101T		NM_001005491.1	NP_001005491.1	Q8NH19	O10AG_HUMAN	olfactory receptor, family 10, subfamily AG, member 1	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GGAGACACTCCGTGCCTCCAA	0.428																																																	0													90.0	89.0	90.0					11																	55735637		2201	4296	6497	SO:0001819	synonymous_variant	282770			AB065594	CCDS31514.1	11q11	2012-08-09			ENSG00000174970	ENSG00000174970		"""GPCR / Class A : Olfactory receptors"""	19607	protein-coding gene	gene with protein product							Standard	NM_001005491		Approved		uc010rit.2	Q8NH19	OTTHUMG00000166824	ENST00000312345.2:c.303G>A	11.37:g.55735637C>T			B2RNH4|Q6IEU3	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T101	ENST00000312345.2	37	c.303	CCDS31514.1	11																																																																																			OR10AG1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.428	OR10AG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10AG1	HGNC	protein_coding	OTTHUMT00000391531.1	C	NM_001005491		55735637	-1	no_errors	ENST00000312345	ensembl	human	known	70_37	silent	SNP	0.001	T
OR6J1	79549	genome.wustl.edu	37	14	23103689	23103689	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr14:23103689C>G	ENST00000540461.1	-	1	27	c.28G>C	c.(28-30)Gag>Cag	p.E10Q				Q8NGC5	OR6J1_HUMAN	olfactory receptor, family 6, subfamily J, member 1 (gene/pseudogene)	10						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)										AGAACAAACTCAGTCACCGCT	0.557																																																	0																																										SO:0001583	missense	79549			AC023226		14q11.2	2012-08-09	2012-04-20	2004-03-10	ENSG00000255804	ENSG00000255804		"""GPCR / Class A : Olfactory receptors"""	14707	protein-coding gene	gene with protein product			"""olfactory receptor, family 6, subfamily J, member 1"""	OR6J2, OR6J1P			Standard	NG_002274		Approved			Q8NGC5	OTTHUMG00000168897	ENST00000540461.1:c.28G>C	14.37:g.23103689C>G	ENSP00000437629:p.Glu10Gln			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.E10Q	ENST00000540461.1	37	c.28		14	.	.	.	.	.	.	.	.	.	.	C	12.23	1.875557	0.33162	.	.	ENSG00000255804	ENST00000540461	T	0.01126	5.3	4.16	4.16	0.48862	.	.	.	.	.	T	0.02767	0.0083	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.41413	-0.9510	6	0.56958	D	0.05	.	13.9297	0.63986	0.0:1.0:0.0:0.0	.	.	.	.	Q	10	ENSP00000437629:E10Q	ENSP00000437629:E10Q	E	-	1	0	OR6J1	22173529	0.529000	0.26322	0.158000	0.22627	0.169000	0.22640	3.755000	0.55197	1.835000	0.53391	0.467000	0.42956	GAG	OR6J1	-	NULL		0.557	OR6J1-001	KNOWN	basic|appris_principal	protein_coding	OR6J1	HGNC	protein_coding	OTTHUMT00000401548.1	C			23103689	-1	no_errors	ENST00000540461	ensembl	human	known	70_37	missense	SNP	0.411	G
PCIF1	63935	genome.wustl.edu	37	20	44571747	44571747	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr20:44571747C>T	ENST00000372409.3	+	8	1049	c.685C>T	c.(685-687)Cca>Tca	p.P229S		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	229					negative regulation of phosphatase activity (GO:0010923)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						CATTGAGCCTCCACGGGAGTC	0.552																																																	0													47.0	40.0	43.0					20																	44571747		2203	4300	6503	SO:0001583	missense	63935			AB050014	CCDS13388.1	20q13.12	2014-06-13	2008-04-29	2008-04-29	ENSG00000100982	ENSG00000100982			16200	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 121"""		"""chromosome 20 open reading frame 67"""	C20orf67		12565871, 15121856	Standard	NM_022104		Approved	bA465L10.1, PPP1R121	uc002xqs.3	Q9H4Z3	OTTHUMG00000032635	ENST00000372409.3:c.685C>T	20.37:g.44571747C>T	ENSP00000361486:p.Pro229Ser		E1P5P1|Q54AB9|Q9NT85	Missense_Mutation	SNP	pfam_PCIF1_WW,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.P229S	ENST00000372409.3	37	c.685	CCDS13388.1	20	.	.	.	.	.	.	.	.	.	.	C	22.9	4.345020	0.82022	.	.	ENSG00000100982	ENST00000372409;ENST00000443130	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.80439	0.4623	M	0.80422	2.495	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82204	-0.0573	9	0.56958	D	0.05	-14.4616	17.4916	0.87705	0.0:1.0:0.0:0.0	.	229	Q9H4Z3	PCIF1_HUMAN	S	229	.	ENSP00000361486:P229S	P	+	1	0	PCIF1	44005154	1.000000	0.71417	0.996000	0.52242	0.854000	0.48673	7.544000	0.82117	2.606000	0.88127	0.655000	0.94253	CCA	PCIF1	-	NULL		0.552	PCIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCIF1	HGNC	protein_coding	OTTHUMT00000079550.1	C	NM_022104		44571747	+1	no_errors	ENST00000372409	ensembl	human	known	70_37	missense	SNP	1.000	T
PCNT	5116	genome.wustl.edu	37	21	47851509	47851509	+	Nonsense_Mutation	SNP	G	G	T			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr21:47851509G>T	ENST00000359568.5	+	38	8238	c.8131G>T	c.(8131-8133)Gag>Tag	p.E2711*	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2711					brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					ACTGAAACACGAGCAGACGGC	0.597																																																	0													67.0	63.0	64.0					21																	47851509		2203	4300	6503	SO:0001587	stop_gained	5116			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.8131G>T	21.37:g.47851509G>T	ENSP00000352572:p.Glu2711*		O43152|Q7Z7C9	Nonsense_Mutation	SNP	pfam_PACT_domain	p.E2711*	ENST00000359568.5	37	c.8131	CCDS33592.1	21	.	.	.	.	.	.	.	.	.	.	G	49	15.748072	0.99844	.	.	ENSG00000160299	ENST00000359568	.	.	.	5.32	5.32	0.75619	.	0.000000	0.34411	N	0.003981	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.371	0.90407	0.0:0.0:1.0:0.0	.	.	.	.	X	2711	.	ENSP00000352572:E2711X	E	+	1	0	PCNT	46675937	1.000000	0.71417	0.932000	0.37286	0.353000	0.29299	8.861000	0.92277	2.664000	0.90586	0.655000	0.94253	GAG	PCNT	-	NULL		0.597	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	G	NM_006031		47851509	+1	no_errors	ENST00000359568	ensembl	human	known	70_37	nonsense	SNP	1.000	T
PHF21A	51317	genome.wustl.edu	37	11	45992778	45992778	+	Silent	SNP	A	A	G			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr11:45992778A>G	ENST00000418153.2	-	7	700	c.501T>C	c.(499-501)gcT>gcC	p.A167A	PHF21A_ENST00000257821.4_Silent_p.A167A|PHF21A_ENST00000323180.6_Silent_p.A167A			Q96BD5	PF21A_HUMAN	PHD finger protein 21A	167					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|suckling behavior (GO:0001967)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleoplasm (GO:0005654)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						TGCTGAGCACAGCCTTCTGAC	0.542																																																	0													158.0	138.0	145.0					11																	45992778		2202	4299	6501	SO:0001819	synonymous_variant	51317			AL359593	CCDS31474.1, CCDS44578.1	11p11.2	2013-01-28			ENSG00000135365	ENSG00000135365		"""Zinc fingers, PHD-type"""	24156	protein-coding gene	gene with protein product		608325				11214970, 12032298	Standard	NM_001101802		Approved	BHC80, KIAA1696, BM-006	uc001ncc.4	Q96BD5	OTTHUMG00000167038	ENST00000418153.2:c.501T>C	11.37:g.45992778A>G			D3DQP5|Q6AWA2|Q9C0G7|Q9H8V9|Q9HAK6|Q9NZE9	Silent	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.A167	ENST00000418153.2	37	c.501	CCDS44578.1	11																																																																																			PHF21A	-	NULL		0.542	PHF21A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	PHF21A	HGNC	protein_coding	OTTHUMT00000392583.1	A	NM_016621		45992778	-1	no_errors	ENST00000257821	ensembl	human	known	70_37	silent	SNP	0.999	G
POLR1A	25885	genome.wustl.edu	37	2	86266016	86266016	+	Intron	SNP	C	C	A			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr2:86266016C>A	ENST00000263857.6	-	27	4255				POLR1A_ENST00000409681.1_Intron			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa						gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TTGACTTGTTCAGGTCCTAGG	0.493																																																	0													60.0	54.0	56.0					2																	86266016		1979	4179	6158	SO:0001627	intron_variant	25885			AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.3877-36G>T	2.37:g.86266016C>A			B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	RNA	SNP	-	NULL	ENST00000263857.6	37	NULL	CCDS42706.1	2																																																																																			POLR1A	-	-		0.493	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1A	HGNC	protein_coding	OTTHUMT00000329830.2	C	NM_015425		86266016	-1	no_errors	ENST00000492034	ensembl	human	putative	70_37	rna	SNP	0.000	A
PRAMEF11	440560	genome.wustl.edu	37	1	12888364	12888364	+	Missense_Mutation	SNP	G	G	A	rs377612057		TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr1:12888364G>A	ENST00000535591.1	-	2	355	c.160C>T	c.(160-162)Cgt>Tgt	p.R54C		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	54					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CACCTGGGACGAACCCCTTGG	0.617																																																	0																																										SO:0001583	missense	440560			AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.160C>T	1.37:g.12888364G>A	ENSP00000439551:p.Arg54Cys			Missense_Mutation	SNP	NULL	p.R54C	ENST00000535591.1	37	c.160	CCDS53268.1	1	.	.	.	.	.	.	.	.	.	.	.	10.42	1.346405	0.24426	.	.	ENSG00000204513	ENST00000535591;ENST00000331684;ENST00000437584	T;T	0.05025	3.51;3.51	1.48	0.419	0.16438	.	1.302520	0.05142	N	0.494379	T	0.15825	0.0381	M	0.66439	2.03	0.09310	N	1	D	0.63046	0.992	P	0.54312	0.748	T	0.19712	-1.0297	10	0.59425	D	0.04	.	6.5928	0.22656	0.1906:0.0:0.8094:0.0	.	54	O60813	PRA11_HUMAN	C	54;95;54	ENSP00000439551:R54C;ENSP00000391839:R54C	ENSP00000328783:R95C	R	-	1	0	PRAMEF11	12810951	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.064000	0.11636	-0.156000	0.11079	-2.168000	0.00324	CGT	PRAMEF11	-	NULL		0.617	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF11	HGNC	protein_coding		G	XM_496341		12888364	-1	no_errors	ENST00000535591	ensembl	human	known	70_37	missense	SNP	0.000	A
POLR3C	10623	genome.wustl.edu	37	1	145592732	145592732	+	Silent	SNP	G	G	A			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr1:145592732G>A	ENST00000334163.3	-	15	1723	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F	POLR3C_ENST00000369294.1_3'UTR	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	521					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			ACTCCAGCAGGAAGATGGTTT	0.438																																																	0													125.0	108.0	114.0					1																	145592732		2203	4300	6503	SO:0001819	synonymous_variant	10623			AJ238234	CCDS72864.1	1q21	2013-01-21			ENSG00000186141	ENSG00000186141		"""RNA polymerase subunits"""	30076	protein-coding gene	gene with protein product						9171375, 12391170	Standard	NM_006468		Approved	RPC62, RPC3	uc001eoh.3	Q9BUI4	OTTHUMG00000013753	ENST00000334163.3:c.1563C>T	1.37:g.145592732G>A			O15317|Q9Y3R6	Silent	SNP	pfam_RNA_pol_III_Rpc82_C,pfam_RNA_pol_III_RPC82-rel_HTH	p.F521	ENST00000334163.3	37	c.1563	CCDS921.1	1																																																																																			POLR3C	-	NULL		0.438	POLR3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3C	HGNC	protein_coding	OTTHUMT00000038542.1	G	NM_006468		145592732	-1	no_errors	ENST00000334163	ensembl	human	known	70_37	silent	SNP	0.999	A
PRKACA	5566	genome.wustl.edu	37	19	14208228	14208228	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr19:14208228G>A	ENST00000308677.4	-	8	906	c.710C>T	c.(709-711)cCg>cTg	p.P237L	PRKACA_ENST00000589994.1_Missense_Mutation_p.P229L|PRKACA_ENST00000590853.1_Intron|PRKACA_ENST00000350356.3_5'UTR	NM_002730.3	NP_002721.1	P17612	KAPCA_HUMAN	protein kinase, cAMP-dependent, catalytic, alpha	237	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|carbohydrate metabolic process (GO:0005975)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular response to epinephrine stimulus (GO:0071872)|cellular response to glucagon stimulus (GO:0071377)|cellular response to glucose stimulus (GO:0071333)|cellular response to parathyroid hormone stimulus (GO:0071374)|cytosolic calcium ion homeostasis (GO:0051480)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G2/M transition of mitotic cell cycle (GO:0000086)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|mesoderm formation (GO:0001707)|mitotic cell cycle (GO:0000278)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|neural tube closure (GO:0001843)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of protein export from nucleus (GO:0046827)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of insulin secretion (GO:0050796)|regulation of osteoblast differentiation (GO:0045667)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of protein binding (GO:0043393)|regulation of protein processing (GO:0070613)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of synaptic transmission (GO:0050804)|regulation of tight junction assembly (GO:2000810)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)|triglyceride catabolic process (GO:0019433)|water transport (GO:0006833)	AMP-activated protein kinase complex (GO:0031588)|calcium channel complex (GO:0034704)|cAMP-dependent protein kinase complex (GO:0005952)|centrosome (GO:0005813)|ciliary base (GO:0097546)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	ATP binding (GO:0005524)|cAMP-dependent protein kinase activity (GO:0004691)|protein kinase A regulatory subunit binding (GO:0034237)|protein kinase binding (GO:0019901)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16						GAAGAAGGGCGGGTAGCCAGC	0.597																																																	0													44.0	47.0	46.0					19																	14208228		2203	4300	6503	SO:0001583	missense	5566				CCDS12304.1, CCDS12305.1	19p13.1	2012-10-02				ENSG00000072062	2.7.11.1		9380	protein-coding gene	gene with protein product		601639				8884279	Standard	NM_002730		Approved	PKACa	uc002myc.3	P17612		ENST00000308677.4:c.710C>T	19.37:g.14208228G>A	ENSP00000309591:p.Pro237Leu		Q32P54|Q9H2Y0|Q9NRB4|Q9NRH9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.P237L	ENST00000308677.4	37	c.710	CCDS12304.1	19	.	.	.	.	.	.	.	.	.	.	G	29.0	4.969869	0.92855	.	.	ENSG00000072062	ENST00000308677;ENST00000350356;ENST00000535695;ENST00000536649	T	0.08370	3.1	4.54	4.54	0.55810	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.40908	U	0.000997	T	0.18045	0.0433	L	0.39020	1.185	0.58432	D	0.999999	D;D;D	0.69078	0.995;0.972;0.997	P;P;D	0.63192	0.861;0.906;0.912	T	0.00939	-1.1507	10	0.87932	D	0	.	14.7756	0.69729	0.0:0.0:1.0:0.0	.	179;237;229	B7Z708;P17612;P17612-2	.;KAPCA_HUMAN;.	L	237;229;237;179	ENSP00000309591:P237L	ENSP00000309591:P237L	P	-	2	0	PRKACA	14069228	1.000000	0.71417	0.991000	0.47740	0.998000	0.95712	9.650000	0.98490	2.054000	0.61138	0.591000	0.81541	CCG	PRKACA	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.597	PRKACA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKACA	HGNC	protein_coding	OTTHUMT00000459004.1	G	NM_002730		14208228	-1	no_errors	ENST00000308677	ensembl	human	known	70_37	missense	SNP	1.000	A
RAB34	83871	genome.wustl.edu	37	17	27043038	27043038	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr17:27043038G>A	ENST00000395245.3	-	3	811	c.185C>T	c.(184-186)tCg>tTg	p.S62L	RAB34_ENST00000436730.3_Missense_Mutation_p.S62L|RAB34_ENST00000453384.3_Missense_Mutation_p.S120L|RAB34_ENST00000447716.1_Missense_Mutation_p.S119L|RAB34_ENST00000301043.6_Missense_Mutation_p.S62L|RAB34_ENST00000395243.3_Missense_Mutation_p.S62L|RAB34_ENST00000415040.2_Intron|RAB34_ENST00000395242.2_Missense_Mutation_p.S63L|RAB34_ENST00000450529.1_Missense_Mutation_p.S62L	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	62					antigen processing and presentation (GO:0019882)|Golgi to plasma membrane protein transport (GO:0043001)|lysosome localization (GO:0032418)|phagosome maturation (GO:0090382)|phagosome-lysosome fusion (GO:0090385)|protein localization to plasma membrane (GO:0072659)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|Golgi stack (GO:0005795)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|vesicle (GO:0031982)	GTP binding (GO:0005525)			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					CTTCCCCACCGACAGGTCCCC	0.587																																					Pancreas(175;216 2049 29940 32498 41589)												0													78.0	79.0	79.0					17																	27043038		2203	4300	6503	SO:0001583	missense	83871			AF322067	CCDS11240.1, CCDS45636.1, CCDS54101.1, CCDS58536.1	17q11.2	2008-07-18			ENSG00000109113	ENSG00000109113		"""RAB, member RAS oncogene"""	16519	protein-coding gene	gene with protein product		610917				12446704	Standard	NM_031934		Approved	RAB39, RAH	uc010was.1	P0DI83	OTTHUMG00000132680	ENST00000395245.3:c.185C>T	17.37:g.27043038G>A	ENSP00000378666:p.Ser62Leu		B4E3A0|E9PEJ9|Q5BJE6|Q8NCJ8|Q96AR4	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S119L	ENST00000395245.3	37	c.356	CCDS11240.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.10|15.10	2.732723|2.732723	0.48939|0.48939	.|.	.|.	ENSG00000109113|ENSG00000109113	ENST00000419712|ENST00000453384;ENST00000447716;ENST00000301043;ENST00000395243;ENST00000450529;ENST00000395242;ENST00000395245;ENST00000436730;ENST00000430132;ENST00000412625;ENST00000353676	.|T;T;T;T;T;T;T;T	.|0.80480	.|-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38	5.92|5.92	5.92|5.92	0.95590|0.95590	.|Small GTP-binding protein domain (1);	.|0.058569	.|0.64402	.|D	.|0.000002	D|D	0.87265|0.87265	0.6134|0.6134	M|M	0.64567|0.64567	1.98|1.98	.|0.45791	.|D	.|0.998671	.|D;P;D;P;P;D	.|0.67145	.|0.996;0.936;0.996;0.948;0.948;0.96	.|P;B;P;P;P;P	.|0.60682	.|0.878;0.388;0.84;0.523;0.605;0.448	D|D	0.85559|0.85559	0.1226|0.1226	4|9	.|0.40728	.|T	.|0.16	-6.8482|-6.8482	18.9021|18.9021	0.92446|0.92446	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|120;62;85;85;63;62	.|E7ES60;Q9BZG1-2;C9JI96;B4DNC0;A8MYQ9;Q9BZG1	.|.;.;.;.;.;RAB34_HUMAN	W|L	83|120;119;62;62;85;63;62;85;63;62;62	.|ENSP00000413156:S120L;ENSP00000410403:S119L;ENSP00000301043:S62L;ENSP00000378664:S62L;ENSP00000378663:S63L;ENSP00000378666:S62L;ENSP00000398706:S62L;ENSP00000226259:S62L	.|ENSP00000301043:S62L	R|S	-|-	1|2	2|0	RAB34|RAB34	24067165|24067165	1.000000|1.000000	0.71417|0.71417	0.967000|0.967000	0.41034|0.41034	0.955000|0.955000	0.61496|0.61496	4.237000|4.237000	0.58681|0.58681	2.812000|2.812000	0.96745|0.96745	0.563000|0.563000	0.77884|0.77884	CGG|TCG	RAB34	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.587	RAB34-018	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	RAB34	HGNC	protein_coding	OTTHUMT00000345906.1	G	NM_031934		27043038	-1	no_errors	ENST00000447716	ensembl	human	known	70_37	missense	SNP	0.999	A
RALGPS1	9649	genome.wustl.edu	37	9	129972982	129972982	+	Intron	SNP	G	G	A			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr9:129972982G>A	ENST00000259351.5	+	15	1514				RALGPS1_ENST00000373434.1_Missense_Mutation_p.R349H|RALGPS1_ENST00000424082.2_Missense_Mutation_p.R349H	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1						intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Ral GTPase activity (GO:0032852)|regulation of Ral protein signal transduction (GO:0032485)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Ral guanyl-nucleotide exchange factor activity (GO:0008321)			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						AGCAGGGGACGTCTCTATGCC	0.493																																																	0																																										SO:0001627	intron_variant	9649			AB002349	CCDS35143.1, CCDS55344.1, CCDS55345.1, CCDS55346.1	9q33.3	2013-01-10			ENSG00000136828	ENSG00000136828		"""Pleckstrin homology (PH) domain containing"""	16851	protein-coding gene	gene with protein product		614444				9205841, 10747847	Standard	NM_001190728		Approved	RALGPS1A, RALGEF2, KIAA0351	uc004bqo.2	Q5JS13	OTTHUMG00000020696	ENST00000259351.5:c.1248-1428G>A	9.37:g.129972982G>A			B4DR86|E9PBQ5|O15059|Q5JT60|Q5JT65|Q5JUG5|Q8N4S6|Q8N5H4|Q8WUV7|Q9NZ16	Missense_Mutation	SNP	pfam_RasGRF_CDC25,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25	p.R349H	ENST00000259351.5	37	c.1046	CCDS35143.1	9	.	.	.	.	.	.	.	.	.	.	G	19.84	3.902778	0.72754	.	.	ENSG00000136828	ENST00000424082;ENST00000373434	T;T	0.31769	1.51;1.48	5.58	5.58	0.84498	.	.	.	.	.	T	0.16041	0.0386	N	0.02247	-0.625	0.43039	D	0.994621	B;B	0.06786	0.001;0.0	B;B	0.06405	0.001;0.002	T	0.13980	-1.0489	9	0.23302	T	0.38	.	19.5721	0.95425	0.0:0.0:1.0:0.0	.	349;349	E9PBQ5;Q5JS13-2	.;.	H	349	ENSP00000415630:R349H;ENSP00000362533:R349H	ENSP00000362533:R349H	R	+	2	0	RALGPS1	129012803	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.691000	0.91279	2.630000	0.89119	0.655000	0.94253	CGT	RALGPS1	-	NULL		0.493	RALGPS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGPS1	HGNC	protein_coding	OTTHUMT00000054133.1	G	NM_014636		129972982	+1	no_errors	ENST00000424082	ensembl	human	known	70_37	missense	SNP	1.000	A
RNF213	57674	genome.wustl.edu	37	17	78367415	78367415	+	3'UTR	SNP	G	G	A	rs373414070		TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr17:78367415G>A	ENST00000582970.1	+	0	15884				RNF213_ENST00000336301.6_3'UTR|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000427003.3_3'UTR|RNF213_ENST00000508628.2_3'UTR|CTD-2047H16.4_ENST00000573394.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213						ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGCTGTCAGCGTAGCACCGAA	0.488																																																	0																																										SO:0001624	3_prime_UTR_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.*117G>A	17.37:g.78367415G>A			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	RNA	SNP	-	NULL	ENST00000582970.1	37	NULL	CCDS58606.1	17																																																																																			RNF213	-	-		0.488	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	G	NM_020914		78367415	+1	no_errors	ENST00000427003	ensembl	human	known	70_37	rna	SNP	0.000	A
ROR2	4920	genome.wustl.edu	37	9	94488984	94488984	+	Missense_Mutation	SNP	C	C	A			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr9:94488984C>A	ENST00000375708.3	-	8	1423	c.1225G>T	c.(1225-1227)Gtc>Ttc	p.V409F	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.V269F	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	409					cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATGCTGGGGACCAAGATGTAC	0.498																																																	0													109.0	95.0	100.0					9																	94488984		2203	4300	6503	SO:0001583	missense	4920			M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.1225G>T	9.37:g.94488984C>A	ENSP00000364860:p.Val409Phe		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V409F	ENST00000375708.3	37	c.1225	CCDS6691.1	9	.	.	.	.	.	.	.	.	.	.	C	14.00	2.404352	0.42613	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	T;T	0.79845	-1.31;-1.31	4.86	4.86	0.63082	Kringle-like fold (1);	0.000000	0.38005	N	0.001852	T	0.79387	0.4437	N	0.24115	0.695	0.58432	D	0.999999	D;P	0.53619	0.961;0.84	P;B	0.52758	0.708;0.374	T	0.81642	-0.0840	10	0.52906	T	0.07	.	18.1763	0.89762	0.0:1.0:0.0:0.0	.	409;269	Q01974;B1APY4	ROR2_HUMAN;.	F	269;409	ENSP00000364867:V269F;ENSP00000364860:V409F	ENSP00000364860:V409F	V	-	1	0	ROR2	93528805	1.000000	0.71417	0.994000	0.49952	0.818000	0.46254	2.922000	0.48860	2.529000	0.85273	0.561000	0.74099	GTC	ROR2	-	superfamily_Kringle-like,pirsf_Tyr_kinase_rcpt_ROR		0.498	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROR2	HGNC	protein_coding	OTTHUMT00000053040.1	C			94488984	-1	no_errors	ENST00000375708	ensembl	human	known	70_37	missense	SNP	1.000	A
RPL41	6171	genome.wustl.edu	37	12	56510565	56510565	+	5'UTR	SNP	C	C	G			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr12:56510565C>G	ENST00000546591.1	+	0	196				RP11-603J24.17_ENST00000548595.1_RNA|RPL41_ENST00000552314.1_3'UTR|RPL41_ENST00000501597.3_5'UTR|ZC3H10_ENST00000257940.2_5'Flank|RP11-603J24.6_ENST00000550840.1_RNA	NM_001035267.1	NP_001030344.1	P62945	RL41_HUMAN	ribosomal protein L41						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)							OV - Ovarian serous cystadenocarcinoma(18;0.12)			GTAGAAACCTCTGCGCCATGA	0.522																																																	0													191.0	192.0	192.0					12																	56510565		2000	4185	6185	SO:0001623	5_prime_UTR_variant	6171			AB007186	CCDS44919.1	12q13	2011-04-06			ENSG00000229117	ENSG00000229117		"""L ribosomal proteins"""	10354	protein-coding gene	gene with protein product		613315				1326959, 9582194	Standard	NM_021104		Approved	L41	uc001sjo.3	P62945		ENST00000546591.1:c.-7C>G	12.37:g.56510565C>G			A6NG21|P28751	RNA	SNP	-	NULL	ENST00000546591.1	37	NULL	CCDS44919.1	12																																																																																			RPL41	-	-		0.522	RPL41-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL41	HGNC	protein_coding	OTTHUMT00000407819.1	C			56510565	+1	no_errors	ENST00000358888	ensembl	human	known	70_37	rna	SNP	0.733	G
RPL6P27	645387	genome.wustl.edu	37	18	6462383	6462383	+	RNA	SNP	T	T	C			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr18:6462383T>C	ENST00000583065.1	-	0	515									ribosomal protein L6 pseudogene 27																		TAAGATGTTTTGGGATTTTTA	0.423																																																	0																																												645387					18p11.31	2009-03-11				ENSG00000235552			36133	pseudogene	pseudogene						19123937	Standard	NG_009652		Approved						18.37:g.6462383T>C				RNA	SNP	-	NULL	ENST00000583065.1	37	NULL		18																																																																																			RPL6P27	-	-		0.423	RPL6P27-002	KNOWN	basic	processed_transcript	RPL6P27	HGNC	pseudogene	OTTHUMT00000444194.1	T	NG_009652		6462383	-1	no_errors	ENST00000583065	ensembl	human	known	70_37	rna	SNP	1.000	C
RYR1	6261	genome.wustl.edu	37	19	38948806	38948806	+	Silent	SNP	T	T	C			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr19:38948806T>C	ENST00000359596.3	+	18	2041	c.2041T>C	c.(2041-2043)Ttg>Ctg	p.L681L	RYR1_ENST00000360985.3_Silent_p.L681L|RYR1_ENST00000355481.4_Silent_p.L681L			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	681	B30.2/SPRY 1. {ECO:0000255|PROSITE- ProRule:PRU00548}.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GGCCACCCACTTGCGGGTGGG	0.647																																																	0													62.0	56.0	58.0					19																	38948806		2203	4300	6503	SO:0001819	synonymous_variant	6261			J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.2041T>C	19.37:g.38948806T>C			Q16314|Q16368|Q9NPK1|Q9P1U4	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif	p.L681	ENST00000359596.3	37	c.2041	CCDS33011.1	19																																																																																			RYR1	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.647	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR1	HGNC	protein_coding	OTTHUMT00000462137.1	T			38948806	+1	no_errors	ENST00000359596	ensembl	human	known	70_37	silent	SNP	1.000	C
SAP18	10284	genome.wustl.edu	37	13	21720741	21720741	+	Intron	SNP	C	C	T			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr13:21720741C>T	ENST00000607003.1	+	3	214				SAP18_ENST00000382533.4_Intron			O00422	SAP18_HUMAN	Sin3A-associated protein, 18kDa						mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|histone deacetylase complex (GO:0000118)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)			kidney(1)|large_intestine(1)|lung(4)	6		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)		ATTGAAATTTCCAGCAGTAAG	0.358																																																	0																																										SO:0001627	intron_variant	10284			U96915	CCDS9295.2	13q12.11	2008-02-05	2006-02-02		ENSG00000150459	ENSG00000150459			10530	protein-coding gene	gene with protein product		602949	"""sin3A-associated protein, 18kDa"""			9150135	Standard	NM_005870		Approved	SAP18p, 2HOR0202, MGC27131	uc001uns.3	O00422	OTTHUMG00000016535	ENST00000607003.1:c.183-203C>T	13.37:g.21720741C>T			B2R494|Q2TTR4|Q6IAW9|Q8N606|Q9UF14	RNA	SNP	-	NULL	ENST00000607003.1	37	NULL		13																																																																																			SAP18	-	-		0.358	SAP18-009	PUTATIVE	basic|appris_candidate	protein_coding	SAP18	HGNC	protein_coding	OTTHUMT00000470725.1	C	NM_005870		21720741	+1	no_errors	ENST00000471009	ensembl	human	known	70_37	rna	SNP	0.001	T
SCUBE3	222663	genome.wustl.edu	37	6	35214037	35214037	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr6:35214037C>T	ENST00000274938.7	+	21	2807	c.2807C>T	c.(2806-2808)tCt>tTt	p.S936F	SCUBE3_ENST00000394681.1_Missense_Mutation_p.S952F	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CTCTATGCCTCTGAAAACCAC	0.443																																																	0													123.0	127.0	126.0					6																	35214037		2203	4300	6503	SO:0001583	missense	222663			AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.2807C>T	6.37:g.35214037C>T	ENSP00000274938:p.Ser936Phe			Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom,prints_Thrombomodulin	p.S952F	ENST00000274938.7	37	c.2855	CCDS4800.1	6	.	.	.	.	.	.	.	.	.	.	C	28.4	4.916585	0.92249	.	.	ENSG00000146197	ENST00000394681;ENST00000274938	T;D	0.84223	-1.4;-1.82	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	D	0.86690	0.5993	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.83275	0.996;0.991	D	0.88299	0.2948	10	0.87932	D	0	.	20.2768	0.98488	0.0:1.0:0.0:0.0	.	952;936	Q8IX30-2;Q8IX30	.;SCUB3_HUMAN	F	952;936	ENSP00000378174:S952F;ENSP00000274938:S936F	ENSP00000274938:S936F	S	+	2	0	SCUBE3	35322015	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.808000	0.96608	0.650000	0.86243	TCT	SCUBE3	-	NULL		0.443	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCUBE3	HGNC	protein_coding	OTTHUMT00000040275.1	C	NM_152753		35214037	+1	no_errors	ENST00000394681	ensembl	human	known	70_37	missense	SNP	1.000	T
SEC24C	9632	genome.wustl.edu	37	10	75530081	75530081	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr10:75530081G>A	ENST00000339365.2	+	22	3068	c.2906G>A	c.(2905-2907)cGa>cAa	p.R969Q	FUT11_ENST00000394790.1_5'Flank|SEC24C_ENST00000535742.1_Missense_Mutation_p.R217Q|SEC24C_ENST00000345254.4_Missense_Mutation_p.R969Q|SEC24C_ENST00000540668.1_Missense_Mutation_p.R217Q|FUT11_ENST00000372841.3_5'Flank|SEC24C_ENST00000496827.1_3'UTR|SEC24C_ENST00000411652.2_Missense_Mutation_p.R850Q	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	969					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)	zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CCAGCAGTTCGAGCCTCTGAA	0.507																																																	0													211.0	216.0	214.0					10																	75530081		2203	4300	6503	SO:0001583	missense	9632			D38555	CCDS7332.1	10q22	2013-10-21	2013-10-21		ENSG00000176986	ENSG00000176986			10705	protein-coding gene	gene with protein product		607185	"""SEC24 (S. cerevisiae) related gene family, member C"", ""SEC24 family, member C (S. cerevisiae)"""			10214955, 7584044	Standard	NM_004922		Approved	KIAA0079	uc001jux.3	P53992	OTTHUMG00000018476	ENST00000339365.2:c.2906G>A	10.37:g.75530081G>A	ENSP00000343405:p.Arg969Gln		B4DZT4|Q8WV25	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.R969Q	ENST00000339365.2	37	c.2906	CCDS7332.1	10	.	.	.	.	.	.	.	.	.	.	G	29.4	4.999576	0.93227	.	.	ENSG00000176986	ENST00000535742;ENST00000345254;ENST00000540668;ENST00000339365;ENST00000411652	T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46	5.81	5.81	0.92471	Gelsolin domain (1);	0.000000	0.85682	D	0.000000	T	0.58793	0.2147	M	0.79123	2.44	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.75020	0.923;0.985	T	0.53795	-0.8388	10	0.35671	T	0.21	-7.3224	20.0702	0.97718	0.0:0.0:1.0:0.0	.	850;969	E7EP00;P53992	.;SC24C_HUMAN	Q	217;969;217;969;850	ENSP00000446174:R217Q;ENSP00000321845:R969Q;ENSP00000445023:R217Q;ENSP00000343405:R969Q;ENSP00000402913:R850Q	ENSP00000343405:R969Q	R	+	2	0	SEC24C	75200087	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.652000	0.98499	2.733000	0.93635	0.655000	0.94253	CGA	SEC24C	-	pfam_Gelsolin_dom		0.507	SEC24C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC24C	HGNC	protein_coding	OTTHUMT00000048679.1	G			75530081	+1	no_errors	ENST00000339365	ensembl	human	known	70_37	missense	SNP	1.000	A
SIGLEC10	89790	genome.wustl.edu	37	19	51918168	51918168	+	Missense_Mutation	SNP	G	G	T			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr19:51918168G>T	ENST00000339313.5	-	8	1641	c.1525C>A	c.(1525-1527)Ctc>Atc	p.L509I	SIGLEC10_ENST00000442846.3_Intron|SIGLEC10_ENST00000432469.2_Intron|SIGLEC10_ENST00000439889.2_Missense_Mutation_p.L451I|SIGLEC10_ENST00000353836.5_Intron|SIGLEC10_ENST00000525998.1_Intron|CTD-2616J11.3_ENST00000532473.1_RNA|CTD-2616J11.2_ENST00000526996.1_RNA|SIGLEC10_ENST00000356298.5_Missense_Mutation_p.L509I|SIGLEC10_ENST00000436984.2_Intron|CTD-2616J11.2_ENST00000532688.1_RNA|SIGLEC10_ENST00000441969.3_Intron			Q96LC7	SIG10_HUMAN	sialic acid binding Ig-like lectin 10	509					cell adhesion (GO:0007155)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		CCTCCATGGAGGCTCAGGGAG	0.682																																																	0													33.0	39.0	37.0					19																	51918168		2200	4296	6496	SO:0001583	missense	89790			AF310233	CCDS12832.1, CCDS54301.1, CCDS54302.1, CCDS54303.1, CCDS54304.1, CCDS54305.1	19q13.3	2013-01-29			ENSG00000142512	ENSG00000142512		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15620	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 10 Ig-like lectin 7"", ""siglec-like gene 2"""	606091				11284738	Standard	NM_033130		Approved	SIGLEC-10, SLG2, PRO940, MGC126774	uc002pwo.3	Q96LC7	OTTHUMG00000165521	ENST00000339313.5:c.1525C>A	19.37:g.51918168G>T	ENSP00000345243:p.Leu509Ile		A8K1I5|A8K3C7|C9JJ33|C9JM10|F8W917|Q3MIR5|Q6UXI8|Q96G54|Q96LC8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L509I	ENST00000339313.5	37	c.1525	CCDS12832.1	19	.	.	.	.	.	.	.	.	.	.	.	16.66	3.183633	0.57800	.	.	ENSG00000142512	ENST00000356298;ENST00000439889;ENST00000339313	D;D;D	0.86230	-2.09;-2.09;-2.09	4.83	3.8	0.43715	.	0.140267	0.33005	N	0.005381	D	0.93644	0.7970	M	0.91717	3.235	0.29020	N	0.88634	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	D	0.88511	0.3089	10	0.54805	T	0.06	.	9.0889	0.36598	0.1027:0.0:0.8973:0.0	.	451;509	Q96LC7-3;Q96LC7	.;SIG10_HUMAN	I	509;451;509	ENSP00000348646:L509I;ENSP00000389132:L451I;ENSP00000345243:L509I	ENSP00000345243:L509I	L	-	1	0	SIGLEC10	56609980	0.996000	0.38824	0.993000	0.49108	0.548000	0.35241	0.534000	0.23098	1.041000	0.40125	0.561000	0.74099	CTC	SIGLEC10	-	NULL		0.682	SIGLEC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIGLEC10	HGNC	protein_coding	OTTHUMT00000384620.2	G	NM_033130		51918168	-1	no_errors	ENST00000339313	ensembl	human	known	70_37	missense	SNP	0.998	T
SLC12A6	9990	genome.wustl.edu	37	15	34529007	34529007	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr15:34529007C>T	ENST00000354181.3	-	23	3436	c.2944G>A	c.(2944-2946)Gat>Aat	p.D982N	SLC12A6_ENST00000558667.1_Missense_Mutation_p.D982N|SLC12A6_ENST00000560164.1_Missense_Mutation_p.D794N|SLC12A6_ENST00000560611.1_Missense_Mutation_p.D982N|SLC12A6_ENST00000451844.2_Missense_Mutation_p.D794N|SLC12A6_ENST00000290209.5_Missense_Mutation_p.D931N|SLC12A6_ENST00000458406.2_Missense_Mutation_p.D923N|SLC12A6_ENST00000397707.2_Missense_Mutation_p.D967N|SLC12A6_ENST00000397702.2_Missense_Mutation_p.D923N|SLC12A6_ENST00000558589.1_Missense_Mutation_p.D973N			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	982					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	GCTGATATATCACTGTCATGC	0.428																																																	0													137.0	120.0	126.0					15																	34529007		2201	4298	6499	SO:0001583	missense	9990			AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.2944G>A	15.37:g.34529007C>T	ENSP00000346112:p.Asp982Asn		A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	pfam_AA-permease_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.D973N	ENST00000354181.3	37	c.2917	CCDS58352.1	15	.	.	.	.	.	.	.	.	.	.	C	34	5.333239	0.95758	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	T;T;T;T;T	0.55413	0.52;0.52;0.52;0.52;0.52	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.75206	0.3818	M	0.83603	2.65	0.80722	D	1	P;D;P;D	0.89917	0.844;1.0;0.697;0.996	P;D;B;D	0.79784	0.482;0.993;0.285;0.963	T	0.78727	-0.2091	10	0.72032	D	0.01	.	17.5803	0.87965	0.0:1.0:0.0:0.0	.	967;982;931;794	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	N	931;967;973;923;923;794	ENSP00000290209:D931N;ENSP00000380819:D967N;ENSP00000380814:D923N;ENSP00000387725:D923N;ENSP00000390199:D794N	ENSP00000290209:D931N	D	-	1	0	SLC12A6	32316299	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.651000	0.83577	2.692000	0.91855	0.650000	0.86243	GAT	SLC12A6	-	tigrfam_Na/K/Cl_cotransptS		0.428	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SLC12A6	HGNC	protein_coding	OTTHUMT00000417991.1	C	NM_005135		34529007	-1	no_errors	ENST00000558589	ensembl	human	known	70_37	missense	SNP	1.000	T
SMARCA4	6597	genome.wustl.edu	37	19	11106940	11106940	+	Missense_Mutation	SNP	C	C	T			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr19:11106940C>T	ENST00000429416.3	+	11	1926	c.1645C>T	c.(1645-1647)Cgc>Tgc	p.R549C	SMARCA4_ENST00000541122.2_Missense_Mutation_p.R549C|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R549C|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R549C|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R549C|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R549C|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R549C|SMARCA4_ENST00000358026.2_Missense_Mutation_p.R549C|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R549C	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	549					aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GAAGGACAAGCGCCTGGCCTA	0.562			"""F, N, Mis"""		NSCLC																																			Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	1	Unknown(1)	lung(1)											172.0	146.0	155.0					19																	11106940		2203	4300	6503	SO:0001583	missense	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1645C>T	19.37:g.11106940C>T	ENSP00000395654:p.Arg549Cys		B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.R549C	ENST00000429416.3	37	c.1645	CCDS12253.1	19	.	.	.	.	.	.	.	.	.	.	C	29.4	5.000645	0.93227	.	.	ENSG00000127616	ENST00000429416;ENST00000358026;ENST00000421844;ENST00000344626;ENST00000541122;ENST00000444061;ENST00000450717;ENST00000413806	T;T;T;T;T;T;T	0.74209	-0.82;-0.82;-0.82;-0.82;-0.82;-0.82;-0.82	4.83	4.83	0.62350	.	0.000000	0.85682	D	0.000000	D	0.89051	0.6605	M	0.91196	3.185	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D	0.87578	0.998;0.998;0.998;0.994;0.99;0.998;0.998	D	0.91689	0.5364	10	0.87932	D	0	-33.0451	17.0373	0.86479	0.0:1.0:0.0:0.0	.	549;549;549;549;549;549;549	B1A8Z6;B1A8Z4;B1A8Z7;Q9HBD4;B1A8Z5;A7E2E1;P51532	.;.;.;.;.;.;SMCA4_HUMAN	C	549;549;613;549;549;549;549;549	ENSP00000395654:R549C;ENSP00000350720:R549C;ENSP00000343896:R549C;ENSP00000445036:R549C;ENSP00000392837:R549C;ENSP00000397783:R549C;ENSP00000414727:R549C	ENSP00000343896:R549C	R	+	1	0	SMARCA4	10967940	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.698000	0.84413	2.371000	0.80710	0.563000	0.77884	CGC	SMARCA4	-	NULL		0.562	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	C	NM_003072		11106940	+1	no_errors	ENST00000358026	ensembl	human	known	70_37	missense	SNP	1.000	T
SPTA1	6708	genome.wustl.edu	37	1	158637785	158637785	+	Missense_Mutation	SNP	T	T	G			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr1:158637785T>G	ENST00000368147.4	-	15	2081	c.1901A>C	c.(1900-1902)aAg>aCg	p.K634T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	634					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGCTGGGTCTTATTAACTGC	0.418																																																	0													183.0	179.0	180.0					1																	158637785		1859	4098	5957	SO:0001583	missense	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.1901A>C	1.37:g.158637785T>G	ENSP00000357129:p.Lys634Thr		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.K634T	ENST00000368147.4	37	c.1901	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	T	11.24	1.580045	0.28180	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.54279	0.58;0.58	4.95	4.95	0.65309	.	0.883442	0.09181	N	0.837373	T	0.44371	0.1290	L	0.58810	1.83	0.31067	N	0.713414	B	0.26041	0.14	B	0.38020	0.263	T	0.50964	-0.8765	10	0.56958	D	0.05	.	13.6072	0.62054	0.0:0.0:0.0:1.0	.	634	P02549	SPTA1_HUMAN	T	634	ENSP00000357130:K634T;ENSP00000357129:K634T	ENSP00000357129:K634T	K	-	2	0	SPTA1	156904409	1.000000	0.71417	0.005000	0.12908	0.023000	0.10783	2.571000	0.45990	2.080000	0.62538	0.528000	0.53228	AAG	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.418	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	T	NM_003126		158637785	-1	no_errors	ENST00000368148	ensembl	human	known	70_37	missense	SNP	0.979	G
STAG1	10274	genome.wustl.edu	37	3	136196132	136196132	+	Splice_Site	SNP	C	C	A	rs143925042		TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr3:136196132C>A	ENST00000383202.2	-	10	1281	c.1025G>T	c.(1024-1026)aGg>aTg	p.R342M	STAG1_ENST00000236698.5_Splice_Site_p.R342M|STAG1_ENST00000434713.2_Splice_Site_p.R116M	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	342	SCD. {ECO:0000255|PROSITE- ProRule:PRU00750}.				chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						GTAACTTACCCTGTCATGAAG	0.358																																																	0													128.0	115.0	119.0					3																	136196132		2203	4299	6502	SO:0001630	splice_region_variant	10274			Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.1026+1G>T	3.37:g.136196132C>A			O00539|Q6P275	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.R342M	ENST00000383202.2	37	c.1025	CCDS3090.1	3	.	.	.	.	.	.	.	.	.	.	C	26.7	4.767156	0.90020	.	.	ENSG00000118007	ENST00000383202;ENST00000236698;ENST00000434713	T;T;T	0.32988	1.43;1.43;1.43	5.09	5.09	0.68999	Stromalin conservative domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.46210	0.1381	L	0.50333	1.59	0.80722	D	1	P;D;P	0.54397	0.932;0.966;0.932	P;P;P	0.55667	0.593;0.781;0.702	T	0.45585	-0.9251	10	0.87932	D	0	.	18.8476	0.92213	0.0:1.0:0.0:0.0	.	359;342;342	Q4LE48;Q6P275;Q8WVM7	.;.;STAG1_HUMAN	M	342;342;116	ENSP00000372689:R342M;ENSP00000236698:R342M;ENSP00000404396:R116M	ENSP00000236698:R342M	R	-	2	0	STAG1	137678822	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.939000	0.63526	2.511000	0.84671	0.655000	0.94253	AGG	STAG1	-	superfamily_ARM-type_fold		0.358	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAG1	HGNC	protein_coding	OTTHUMT00000357366.1	C	NM_005862	Missense_Mutation	136196132	-1	no_errors	ENST00000383202	ensembl	human	known	70_37	missense	SNP	1.000	A
SUMO3	6612	genome.wustl.edu	37	21	46226693	46226693	+	3'UTR	SNP	G	G	C			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr21:46226693G>C	ENST00000397898.3	-	0	617				AL773604.8_ENST00000417820.1_RNA|SUMO3_ENST00000332859.6_3'UTR|SUMO3_ENST00000411651.2_3'UTR|SUMO3_ENST00000479153.1_5'UTR					small ubiquitin-like modifier 3											prostate(1)	1				Colorectal(79;0.058)		TTAAGTTACAGATTCATCCCT	0.393																																																	0																																										SO:0001624	3_prime_UTR_variant	6612				CCDS33587.1, CCDS68220.1	21q22.3	2013-06-05	2013-06-05	2004-05-19	ENSG00000184900	ENSG00000184900			11124	protein-coding gene	gene with protein product		602231	"""SMT3 (suppressor of mif two 3, yeast) homolog 1"", ""SMT3 suppressor of mif two 3 homolog 3 (yeast)"", ""SMT3 suppressor of mif two 3 homolog 3 (S. cerevisiae)"""	SMT3H1		9119407	Standard	NM_006936		Approved	SMT3A	uc002zfz.1	P55854	OTTHUMG00000090256	ENST00000397898.3:c.*127C>G	21.37:g.46226693G>C				RNA	SNP	-	NULL	ENST00000397898.3	37	NULL		21																																																																																			SUMO3	-	-		0.393	SUMO3-002	NOVEL	basic|exp_conf	protein_coding	SUMO3	HGNC	protein_coding	OTTHUMT00000206561.1	G			46226693	-1	no_errors	ENST00000479153	ensembl	human	known	70_37	rna	SNP	0.020	C
SYNPO	11346	genome.wustl.edu	37	5	150028582	150028582	+	Missense_Mutation	SNP	G	G	T	rs138102891	byFrequency	TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr5:150028582G>T	ENST00000394243.1	+	3	1851	c.1477G>T	c.(1477-1479)Ggg>Tgg	p.G493W	SYNPO_ENST00000522122.1_Missense_Mutation_p.G493W|SYNPO_ENST00000519664.1_Missense_Mutation_p.G249W|SYNPO_ENST00000307662.4_Missense_Mutation_p.G249W	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	493					positive regulation of actin filament bundle assembly (GO:0032233)|regulation of stress fiber assembly (GO:0051492)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic membrane (GO:0045211)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin binding (GO:0003779)			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGGCGCCAGGGGGCACCAG	0.642																																																	0													56.0	59.0	58.0					5																	150028582		2203	4300	6503	SO:0001583	missense	11346			AF499137	CCDS4308.1, CCDS54937.1, CCDS54938.1	5q33.1	2008-02-05			ENSG00000171992	ENSG00000171992			30672	protein-coding gene	gene with protein product		608155				9314539, 10470851	Standard	NM_007286		Approved	KIAA1029	uc003lsn.3	Q8N3V7	OTTHUMG00000130078	ENST00000394243.1:c.1477G>T	5.37:g.150028582G>T	ENSP00000377789:p.Gly493Trp		A5PKZ8|D3DQG8|O15271|Q9UPX1	Missense_Mutation	SNP	NULL	p.G493W	ENST00000394243.1	37	c.1477	CCDS54937.1	5	.	.	.	.	.	.	.	.	.	.	G	14.56	2.571104	0.45798	.	.	ENSG00000171992	ENST00000394243;ENST00000522122;ENST00000307662;ENST00000519664	T;T;T	0.27720	1.65;1.65;1.7	5.49	4.62	0.57501	.	0.233990	0.30320	N	0.009895	T	0.38983	0.1061	L	0.29908	0.895	0.09310	N	1	D;D	0.71674	0.995;0.998	D;D	0.71870	0.939;0.975	T	0.14035	-1.0487	10	0.37606	T	0.19	-20.8321	10.1832	0.42982	0.0918:0.0:0.9082:0.0	.	249;493	Q8N3V7-2;Q8N3V7	.;SYNPO_HUMAN	W	493;493;249;249	ENSP00000377789:G493W;ENSP00000428378:G493W;ENSP00000429268:G249W	ENSP00000302139:G249W	G	+	1	0	SYNPO	150008775	.	.	0.023000	0.16930	0.995000	0.86356	.	.	1.309000	0.44985	0.561000	0.74099	GGG	SYNPO	-	NULL		0.642	SYNPO-002	KNOWN	basic|CCDS	protein_coding	SYNPO	HGNC	protein_coding	OTTHUMT00000252371.1	G	NM_007286		150028582	+1	no_errors	ENST00000394243	ensembl	human	known	70_37	missense	SNP	0.037	T
TMEM115	11070	genome.wustl.edu	37	3	50396227	50396227	+	Missense_Mutation	SNP	C	C	G			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr3:50396227C>G	ENST00000266025.3	-	1	814	c.268G>C	c.(268-270)Gag>Cag	p.E90Q	XXcos-LUCA11.5_ENST00000606589.1_Intron	NM_007024.4	NP_008955.1	Q12893	TM115_HUMAN	transmembrane protein 115	90					negative regulation of cell proliferation (GO:0008285)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(1)|lung(1)|prostate(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CAGAGGGGCTCCAGCAAACGC	0.627																																																	0													54.0	66.0	62.0					3																	50396227		2203	4300	6503	SO:0001583	missense	11070			BC011948	CCDS2828.1	3p21.31	2008-11-04			ENSG00000126062	ENSG00000126062			30055	protein-coding gene	gene with protein product	"""placental protein 6"""	607069				11085536	Standard	NM_007024		Approved	PL6	uc003dan.1	Q12893	OTTHUMG00000044212	ENST00000266025.3:c.268G>C	3.37:g.50396227C>G	ENSP00000266025:p.Glu90Gln		A2IDB7|O14568|Q6IAY4|Q9UIX3	Missense_Mutation	SNP	pfam_DUF1751_Mem_euk	p.E90Q	ENST00000266025.3	37	c.268	CCDS2828.1	3	.	.	.	.	.	.	.	.	.	.	C	28.2	4.901944	0.92035	.	.	ENSG00000126062	ENST00000266025	T	0.21543	2.0	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.56046	0.1959	M	0.89534	3.04	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.65438	-0.6168	10	0.87932	D	0	1.1223	17.9911	0.89169	0.0:1.0:0.0:0.0	.	90	Q12893	TM115_HUMAN	Q	90	ENSP00000266025:E90Q	ENSP00000266025:E90Q	E	-	1	0	TMEM115	50371231	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.498000	0.81546	2.612000	0.88384	0.563000	0.77884	GAG	TMEM115	-	pfam_DUF1751_Mem_euk		0.627	TMEM115-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM115	HGNC	protein_coding	OTTHUMT00000102784.3	C	NM_007024		50396227	-1	no_errors	ENST00000266025	ensembl	human	known	70_37	missense	SNP	1.000	G
TNS3	64759	genome.wustl.edu	37	7	47408264	47408264	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr7:47408264G>C	ENST00000398879.1	-	17	2345	c.1979C>G	c.(1978-1980)tCt>tGt	p.S660C	TNS3_ENST00000311160.9_Missense_Mutation_p.S660C|TNS3_ENST00000355730.3_Missense_Mutation_p.S420C			Q68CZ2	TENS3_HUMAN	tensin 3	660					cell migration (GO:0016477)|lung alveolus development (GO:0048286)|positive regulation of cell proliferation (GO:0008284)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)				NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TTTGCTGGGAGAGGGCTGCTG	0.657																																																	0													95.0	110.0	105.0					7																	47408264		2069	4213	6282	SO:0001583	missense	64759			AF378756	CCDS5506.2	7p12.3	2013-02-14	2005-05-13	2005-05-13	ENSG00000136205	ENSG00000136205		"""SH2 domain containing"""	21616	protein-coding gene	gene with protein product	"""tumor endothelial marker 6"""	606825	"""tensin-like SH2 domain-containing 1"""	TENS1		11559528	Standard	NM_022748		Approved	TEM6, H_NH0549I23.2, FLJ13732	uc003tnw.3	Q68CZ2	OTTHUMG00000074075	ENST00000398879.1:c.1979C>G	7.37:g.47408264G>C	ENSP00000381854:p.Ser660Cys		B2RNV1|Q6IPQ2|Q8IZW7|Q8NAD0|Q96PE0|Q96S48	Missense_Mutation	SNP	pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom	p.S660C	ENST00000398879.1	37	c.1979	CCDS5506.2	7	.	.	.	.	.	.	.	.	.	.	G	1.995	-0.430873	0.04669	.	.	ENSG00000136205	ENST00000311160;ENST00000538633;ENST00000398879;ENST00000355730;ENST00000545849;ENST00000457718	D;D;D;D	0.94000	-2.88;-2.88;-3.33;-2.98	5.45	-1.49	0.08718	.	2.117000	0.01902	N	0.039277	D	0.82623	0.5077	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.71839	-0.4471	10	0.33940	T	0.23	1.059	1.4553	0.02383	0.417:0.2073:0.247:0.1287	.	660	Q68CZ2	TENS3_HUMAN	C	660;770;660;420;116;763	ENSP00000312143:S660C;ENSP00000381854:S660C;ENSP00000347968:S420C;ENSP00000414358:S763C	ENSP00000312143:S660C	S	-	2	0	TNS3	47374789	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.177000	0.16801	-0.367000	0.08052	0.655000	0.94253	TCT	TNS3	-	NULL		0.657	TNS3-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TNS3	HGNC	protein_coding	OTTHUMT00000157253.1	G	NM_022748		47408264	-1	no_errors	ENST00000311160	ensembl	human	known	70_37	missense	SNP	0.000	C
TRPM4	54795	genome.wustl.edu	37	19	49693976	49693976	+	Missense_Mutation	SNP	G	G	T	rs78381230	byFrequency	TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr19:49693976G>T	ENST00000252826.5	+	16	2282	c.2156G>T	c.(2155-2157)cGg>cTg	p.R719L	TRPM4_ENST00000427978.2_Missense_Mutation_p.R719L|TRPM4_ENST00000355712.5_Missense_Mutation_p.R365L	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	719					calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GAGCCCACACGGGAGGAGCTA	0.547																																																	0													97.0	88.0	91.0					19																	49693976		2203	4300	6503	SO:0001583	missense	54795			AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.2156G>T	19.37:g.49693976G>T	ENSP00000252826:p.Arg719Leu		A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.R719L	ENST00000252826.5	37	c.2156	CCDS33073.1	19	.	.	.	.	.	.	.	.	.	.	g	8.352	0.831138	0.16820	.	.	ENSG00000130529	ENST00000252826;ENST00000427978;ENST00000355712	D;D;D	0.82893	-1.66;-1.66;-1.66	3.8	0.413	0.16401	.	0.672540	0.13499	N	0.383438	T	0.60038	0.2238	N	0.08118	0	0.09310	N	1	B;B;B;B	0.24092	0.097;0.094;0.094;0.0	B;B;B;B	0.20767	0.014;0.031;0.019;0.001	T	0.46105	-0.9215	10	0.25751	T	0.34	-6.5519	3.4735	0.07575	0.5229:0.2429:0.2342:0.0	.	365;545;719;719	B4DIX5;Q8TD43-2;Q8TD43-3;Q8TD43	.;.;.;TRPM4_HUMAN	L	719;719;365	ENSP00000252826:R719L;ENSP00000407492:R719L;ENSP00000347944:R365L	ENSP00000252826:R719L	R	+	2	0	TRPM4	54385788	0.007000	0.16637	0.205000	0.23548	0.008000	0.06430	-0.337000	0.07852	0.018000	0.15052	-0.529000	0.04317	CGG	TRPM4	-	NULL		0.547	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM4	HGNC	protein_coding	OTTHUMT00000465543.2	G	NM_017636		49693976	+1	no_errors	ENST00000252826	ensembl	human	known	70_37	missense	SNP	0.225	T
TSSC1	7260	genome.wustl.edu	37	2	3217970	3217970	+	Missense_Mutation	SNP	C	C	T	rs376448610		TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr2:3217970C>T	ENST00000382125.4	-	5	658	c.466G>A	c.(466-468)Gat>Aat	p.D156N	TSSC1_ENST00000398659.4_Missense_Mutation_p.D183N|TSSC1_ENST00000443925.2_Missense_Mutation_p.D156N|TSSC1_ENST00000478754.1_5'UTR	NM_003310.2	NP_003301.1	Q53HC9	TSSC1_HUMAN	tumor suppressing subtransferable candidate 1	156								p.D156N(1)		breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		ATATGGTTATCAGCCAAGGAA	0.413																																					Colon(140;1261 1762 4183 34270 49743)												1	Substitution - Missense(1)	lung(1)						C	ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	133.0	121.0	125.0		466	5.0	0.8	2		125	0,8600		0,0,4300	no	missense	TSSC1	NM_003310.2	23	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	156/388	3217970	1,13005	2203	4300	6503	SO:0001583	missense	7260			AF019952	CCDS1651.1	2p25.3	2013-01-10			ENSG00000032389	ENSG00000032389		"""WD repeat domain containing"""	12383	protein-coding gene	gene with protein product		608998				9403053, 9925925	Standard	NM_003310		Approved		uc002qxj.2	Q53HC9	OTTHUMG00000090329	ENST00000382125.4:c.466G>A	2.37:g.3217970C>T	ENSP00000371559:p.Asp156Asn		D6W4Y1|O43179|Q53S19|Q53SG2	Missense_Mutation	SNP	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D156N	ENST00000382125.4	37	c.466	CCDS1651.1	2	.	.	.	.	.	.	.	.	.	.	C	15.24	2.773605	0.49786	2.27E-4	0.0	ENSG00000032389	ENST00000382125;ENST00000398659;ENST00000443925	T;T;T	0.21031	2.03;2.03;2.03	5.0	5.0	0.66597	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.29355	0.0731	M	0.78049	2.395	0.80722	D	1	B	0.25563	0.129	B	0.21151	0.033	T	0.13361	-1.0512	10	0.72032	D	0.01	-2.5233	16.1381	0.81502	0.0:1.0:0.0:0.0	.	156	Q53HC9	TSSC1_HUMAN	N	156;183;156	ENSP00000371559:D156N;ENSP00000381652:D183N;ENSP00000389080:D156N	ENSP00000371559:D156N	D	-	1	0	TSSC1	3196977	1.000000	0.71417	0.781000	0.31783	0.328000	0.28507	6.784000	0.75084	2.465000	0.83290	0.655000	0.94253	GAT	TSSC1	-	smart_WD40_repeat,pfscan_WD40_repeat_dom		0.413	TSSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSSC1	HGNC	protein_coding	OTTHUMT00000206694.2	C	NM_003310		3217970	-1	no_errors	ENST00000382125	ensembl	human	known	70_37	missense	SNP	0.997	T
XIRP2	129446	genome.wustl.edu	37	2	168099826	168099826	+	Missense_Mutation	SNP	A	A	G			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr2:168099826A>G	ENST00000409195.1	+	9	2013	c.1924A>G	c.(1924-1926)Aaa>Gaa	p.K642E	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.K642E|XIRP2_ENST00000409273.1_Missense_Mutation_p.K420E	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	467					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAATGCAGAGAAAATTCCTGA	0.433																																																	0													61.0	63.0	62.0					2																	168099826		1913	4113	6026	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.1924A>G	2.37:g.168099826A>G	ENSP00000386840:p.Lys642Glu		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.K642E	ENST00000409195.1	37	c.1924	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	A	15.97	2.989626	0.53934	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.02890	4.12;4.12;4.12	5.93	5.93	0.95920	.	0.046324	0.85682	D	0.000000	T	0.04998	0.0134	M	0.67953	2.075	0.49051	D	0.999745	B;P;P	0.34462	0.325;0.454;0.454	B;B;B	0.36504	0.113;0.226;0.226	T	0.46386	-0.9195	10	0.14656	T	0.56	-29.0706	11.4213	0.49982	0.9302:0.0:0.0698:0.0	.	467;467;420	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	E	642;642;420	ENSP00000386840:K642E;ENSP00000295237:K642E;ENSP00000387255:K420E	ENSP00000295237:K642E	K	+	1	0	XIRP2	167808072	0.943000	0.32029	1.000000	0.80357	0.981000	0.71138	1.926000	0.40084	2.271000	0.75665	0.533000	0.62120	AAA	XIRP2	-	NULL		0.433	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	A	NM_152381		168099826	+1	no_errors	ENST00000295237	ensembl	human	known	70_37	missense	SNP	0.997	G
ZBTB40	9923	genome.wustl.edu	37	1	22848902	22848902	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr1:22848902G>C	ENST00000375647.4	+	16	3451	c.3244G>C	c.(3244-3246)Gag>Cag	p.E1082Q	ZBTB40_ENST00000404138.1_Missense_Mutation_p.E1082Q|ZBTB40-IT1_ENST00000438551.1_RNA|ZBTB40_ENST00000374651.4_Missense_Mutation_p.E970Q	NM_014870.3	NP_055685.3	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1082					bone mineralization (GO:0030282)|cellular response to DNA damage stimulus (GO:0006974)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CCAGTGTAAGGAGCTCTTCCC	0.502																																																	0													215.0	201.0	206.0					1																	22848902		2203	4300	6503	SO:0001583	missense	9923			AB007947	CCDS224.1	1p36	2013-01-08			ENSG00000184677	ENSG00000184677		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	29045	protein-coding gene	gene with protein product		612106					Standard	NM_014870		Approved	KIAA0478, ZNF923	uc001bfu.2	Q9NUA8	OTTHUMG00000002897	ENST00000375647.4:c.3244G>C	1.37:g.22848902G>C	ENSP00000364798:p.Glu1082Gln		O75066|Q5TFU5|Q8N1R1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E1082Q	ENST00000375647.4	37	c.3244	CCDS224.1	1	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234203	0.58886	.	.	ENSG00000184677	ENST00000404138;ENST00000375647;ENST00000374651	T;T;T	0.07688	3.17;3.17;3.17	6.06	6.06	0.98353	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);	0.000000	0.56097	D	0.000030	T	0.08537	0.0212	N	0.16307	0.4	0.36475	D	0.867497	P;P	0.51537	0.946;0.911	P;B	0.46253	0.509;0.382	T	0.21621	-1.0240	10	0.45353	T	0.12	-28.3573	14.7549	0.69557	0.0:0.1443:0.8557:0.0	.	970;1082	F8WAI8;Q9NUA8	.;ZBT40_HUMAN	Q	1082;1082;970	ENSP00000384527:E1082Q;ENSP00000364798:E1082Q;ENSP00000363782:E970Q	ENSP00000363782:E970Q	E	+	1	0	ZBTB40	22721489	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.483000	0.60264	2.882000	0.98803	0.655000	0.94253	GAG	ZBTB40	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.502	ZBTB40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB40	HGNC	protein_coding	OTTHUMT00000008094.1	G	NM_014870		22848902	+1	no_errors	ENST00000375647	ensembl	human	known	70_37	missense	SNP	1.000	C
ZDBF2	57683	genome.wustl.edu	37	2	207169840	207169840	+	Silent	SNP	C	C	T	rs538759150	byFrequency	TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr2:207169840C>T	ENST00000374423.3	+	5	974	c.588C>T	c.(586-588)aaC>aaT	p.N196N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	196							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAAGCTCTAACGATAGACCAG	0.403													C|||	2	0.000399361	0.0	0.0	5008	,	,		18433	0.002		0.0	False		,,,				2504	0.0																0													53.0	54.0	54.0					2																	207169840		1854	4100	5954	SO:0001819	synonymous_variant	57683			AB046791	CCDS46501.1, CCDS74637.1	2q33.3	2013-01-10			ENSG00000204186	ENSG00000204186		"""Zinc fingers, DBF-type"""	29313	protein-coding gene	gene with protein product						10997877	Standard	XM_005246711		Approved	FLJ45338, KIAA1571	uc002vbp.2	Q9HCK1	OTTHUMG00000154648	ENST00000374423.3:c.588C>T	2.37:g.207169840C>T			Q6ZNP7|Q6ZSN8	Silent	SNP	pfam_Znf_DBF,smart_Znf_DBF	p.N196	ENST00000374423.3	37	c.588	CCDS46501.1	2																																																																																			ZDBF2	-	NULL		0.403	ZDBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDBF2	HGNC	protein_coding	OTTHUMT00000336458.1	C	NM_020923		207169840	+1	no_errors	ENST00000374423	ensembl	human	known	70_37	silent	SNP	0.000	T
ZMYM3	9203	genome.wustl.edu	37	X	70468078	70468078	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chrX:70468078G>A	ENST00000353904.2	-	11	2096	c.1909C>T	c.(1909-1911)Cgg>Tgg	p.R637W	ZMYM3_ENST00000373988.1_Missense_Mutation_p.R639W|ZMYM3_ENST00000314425.5_Missense_Mutation_p.R637W|ZMYM3_ENST00000373984.3_Missense_Mutation_p.R639W|ZMYM3_ENST00000373998.1_Missense_Mutation_p.R637W|ZMYM3_ENST00000489332.1_5'UTR	NM_005096.3	NP_005087.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	637					cytoskeleton organization (GO:0007010)|multicellular organismal development (GO:0007275)|regulation of cell morphogenesis (GO:0022604)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TTCTCCTGCCGACAGTGCTCA	0.547																																																	0													67.0	50.0	56.0					X																	70468078		2203	4300	6503	SO:0001583	missense	9203			AB002383	CCDS14409.1, CCDS55443.1, CCDS55444.1	Xq13.1	2013-01-08	2005-12-19	2005-12-19	ENSG00000147130	ENSG00000147130		"""Zinc fingers, MYM type"""	13054	protein-coding gene	gene with protein product		300061	"""zinc finger protein 261"""	ZNF261		10486218	Standard	NM_201599		Approved	ZNF198L2, DXS6673E, KIAA0385, MYM	uc004dzh.2	Q14202	OTTHUMG00000021799	ENST00000353904.2:c.1909C>T	X.37:g.70468078G>A	ENSP00000343909:p.Arg637Trp		D3DVV3|O15089|Q96E26	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH	p.R639W	ENST00000353904.2	37	c.1915	CCDS14409.1	X	.	.	.	.	.	.	.	.	.	.	g	14.44	2.537049	0.45176	.	.	ENSG00000147130	ENST00000314425;ENST00000373998;ENST00000353904;ENST00000373984;ENST00000373988	T;T;T;T;T	0.47528	1.44;0.84;1.44;1.45;1.44	4.59	2.66	0.31614	TRASH (1);Zinc finger, MYM-type (1);	0.110366	0.40144	N	0.001178	T	0.46946	0.1419	N	0.14661	0.345	0.29143	N	0.878896	D;D	0.71674	0.997;0.998	P;D	0.65140	0.888;0.932	T	0.47674	-0.9099	10	0.87932	D	0	-5.2885	11.6372	0.51211	0.0:0.0:0.4109:0.5891	.	637;637	Q14202-2;Q14202	.;ZMYM3_HUMAN	W	637;637;637;639;639	ENSP00000322845:R637W;ENSP00000363110:R637W;ENSP00000343909:R637W;ENSP00000363096:R639W;ENSP00000363100:R639W	ENSP00000322845:R637W	R	-	1	2	ZMYM3	70384803	1.000000	0.71417	1.000000	0.80357	0.927000	0.56198	2.324000	0.43831	0.911000	0.36747	0.429000	0.28392	CGG	ZMYM3	-	pfam_Znf_MYM,smart_TRASH		0.547	ZMYM3-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZMYM3	HGNC	protein_coding	OTTHUMT00000057154.1	G	NM_201599		70468078	-1	no_errors	ENST00000373988	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF829	374899	genome.wustl.edu	37	19	37383799	37383799	+	Intron	SNP	C	C	A			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr19:37383799C>A	ENST00000391711.3	-	6	684				ZNF345_ENST00000526123.1_Silent_p.I42I|ZNF345_ENST00000432005.2_3'UTR|ZNF829_ENST00000520965.1_Intron	NM_001037232.3	NP_001032309.2	Q3KNS6	ZN829_HUMAN	zinc finger protein 829						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCAAGGCCATCAGCATGCCCA	0.607																																																	0																																										SO:0001627	intron_variant	25850			BC107131	CCDS42557.1, CCDS59380.1	19q13.12	2013-01-08			ENSG00000185869	ENSG00000185869		"""Zinc fingers, C2H2-type"", ""-"""	34032	protein-coding gene	gene with protein product							Standard	NM_001037232		Approved	DKFZp779O175	uc021utr.1	Q3KNS6	OTTHUMG00000048161	ENST00000391711.3:c.320-426G>T	19.37:g.37383799C>A			Q3KNS7|Q6ZNN0|Q7Z657	Silent	SNP	NULL	p.I42	ENST00000391711.3	37	c.126	CCDS42557.1	19																																																																																			ZNF345	-	NULL		0.607	ZNF829-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF345	HGNC	protein_coding	OTTHUMT00000109575.3	C	NM_001037232		37383799	+1	no_errors	ENST00000526123	ensembl	human	putative	70_37	silent	SNP	0.713	A
ZNF398	57541	genome.wustl.edu	37	7	148863295	148863295	+	Missense_Mutation	SNP	G	G	C			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr7:148863295G>C	ENST00000475153.1	+	3	733	c.466G>C	c.(466-468)Gag>Cag	p.E156Q	ZNF398_ENST00000426851.2_5'UTR|ZNF398_ENST00000483892.1_5'UTR|ZNF398_ENST00000335901.4_5'UTR|ZNF398_ENST00000420008.2_5'UTR|ZNF398_ENST00000491174.1_5'UTR|ZNF398_ENST00000540950.1_Missense_Mutation_p.E161Q|ZNF398_ENST00000485111.1_3'UTR			Q8TD17	ZN398_HUMAN	zinc finger protein 398	156	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E156K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			TTCCACTCCAGAGTGGGAAAA	0.408																																																	1	Substitution - Missense(1)	lung(1)											116.0	115.0	115.0					7																	148863295		2203	4300	6503	SO:0001583	missense	57541			AB037760	CCDS5894.1, CCDS47739.1	7q35	2013-01-08			ENSG00000197024	ENSG00000197024		"""Zinc fingers, C2H2-type"", ""-"""	18373	protein-coding gene	gene with protein product						11779858	Standard	NM_170686		Approved	ZER6, KIAA1339, P51, P71	uc003wfl.3	Q8TD17	OTTHUMG00000158970	ENST00000475153.1:c.466G>C	7.37:g.148863295G>C	ENSP00000420418:p.Glu156Gln		A8K384|B4E377|Q8TD18|Q9P2K7|Q9UDV8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.E161Q	ENST00000475153.1	37	c.481	CCDS5894.1	7	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380794	0.82792	.	.	ENSG00000197024	ENST00000475153;ENST00000540950	T;T	0.11604	2.76;2.76	5.24	5.24	0.73138	Krueppel-associated box (4);	0.000000	0.43416	D	0.000572	T	0.43787	0.1263	M	0.92691	3.335	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.87578	0.995;0.998	T	0.56475	-0.7973	10	0.87932	D	0	-21.0208	16.328	0.82994	0.0:0.0:1.0:0.0	.	161;156	B4DXA9;Q8TD17	.;ZN398_HUMAN	Q	156;161	ENSP00000420418:E156Q;ENSP00000439340:E161Q	ENSP00000420418:E156Q	E	+	1	0	ZNF398	148494228	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.779000	0.68948	2.444000	0.82710	0.563000	0.77884	GAG	ZNF398	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel		0.408	ZNF398-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF398	HGNC	protein_coding	OTTHUMT00000352722.2	G			148863295	+1	no_errors	ENST00000540950	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF486	90649	genome.wustl.edu	37	19	20295210	20295210	+	Missense_Mutation	SNP	G	G	A			TCGA-C5-A7CH-01A-11D-A33O-09	TCGA-C5-A7CH-10A-01D-A33O-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	7099c2b8-72df-4118-9950-72799ab04f3e	053a4c1d-56e5-474e-bedf-171f1ee2bff4	g.chr19:20295210G>A	ENST00000335117.8	+	2	133	c.76G>A	c.(76-78)Gag>Aag	p.E26K	CTC-260E6.6_ENST00000593655.1_RNA|ZNF486_ENST00000597083.1_Missense_Mutation_p.E26K|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000585498.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	26	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						CTCTCTGGAGGAGTGGCATTG	0.423																																																	0													146.0	185.0	171.0					19																	20295210		1509	2709	4218	SO:0001583	missense	90649			BC008936	CCDS46029.1	19p12	2014-02-13	2003-12-16	2003-12-17	ENSG00000256229	ENSG00000256229		"""Zinc fingers, C2H2-type"", ""-"""	20807	protein-coding gene	gene with protein product			"""KRAB domain only 2"""	KRBO2			Standard	NM_052852		Approved	MGC2396	uc002nou.3	Q96H40	OTTHUMG00000179731	ENST00000335117.8:c.76G>A	19.37:g.20295210G>A	ENSP00000335042:p.Glu26Lys		Q0VG00	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E26K	ENST00000335117.8	37	c.76	CCDS46029.1	19	.	.	.	.	.	.	.	.	.	.	g	13.02	2.111598	0.37242	.	.	ENSG00000256229	ENST00000545779;ENST00000335117	T	0.12255	2.7	0.81	0.81	0.18732	Krueppel-associated box (4);	.	.	.	.	T	0.47985	0.1475	H	0.98351	4.21	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.31888	-0.9927	9	0.87932	D	0	.	4.7747	0.13173	0.0:0.0:1.0:0.0	.	26	Q96H40	ZN486_HUMAN	K	65;26	ENSP00000335042:E26K	ENSP00000335042:E26K	E	+	1	0	ZNF486	20156210	0.970000	0.33590	0.135000	0.22099	0.137000	0.21094	1.990000	0.40717	0.181000	0.19994	0.184000	0.17185	GAG	ZNF486	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.423	ZNF486-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF486	HGNC	protein_coding	OTTHUMT00000447843.2	G	NM_052852		20295210	+1	no_errors	ENST00000335117	ensembl	human	known	70_37	missense	SNP	0.127	A
