#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABCC2	1244	genome.wustl.edu	37	10	101569915	101569915	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr10:101569915G>A	ENST00000370449.4	+	14	1953	c.1840G>A	c.(1840-1842)Gag>Aag	p.E614K		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	614					cellular chloride ion homeostasis (GO:0030644)|drug transmembrane transport (GO:0006855)|prostaglandin transport (GO:0015732)|response to arsenic-containing substance (GO:0046685)|response to estrogen (GO:0043627)|response to heat (GO:0009408)|response to methotrexate (GO:0031427)|response to oxidative stress (GO:0006979)|thyroid hormone transport (GO:0070327)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|intercellular canaliculus (GO:0046581)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|organic anion transmembrane transporter activity (GO:0008514)			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Aminohippurate(DB00345)|Arsenic trioxide(DB01169)|Atorvastatin(DB01076)|Canagliflozin(DB08907)|Carbamazepine(DB00564)|Carboplatin(DB00958)|Cisplatin(DB00515)|Clotrimazole(DB00257)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Eprosartan(DB00876)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Ezetimibe(DB00973)|Furosemide(DB00695)|Fusidic Acid(DB02703)|Gadoxetate(DB08884)|Glutathione(DB00143)|Glyburide(DB01016)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Leucovorin(DB00650)|Levetiracetam(DB01202)|Lomefloxacin(DB00978)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nifedipine(DB01115)|Norgestimate(DB00957)|Ofloxacin(DB01165)|Olmesartan(DB00275)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pitavastatin(DB08860)|Pranlukast(DB01411)|Pravastatin(DB00175)|Probenecid(DB01032)|Quinidine(DB00908)|Reserpine(DB00206)|Rifampicin(DB01045)|Ritonavir(DB00503)|Saquinavir(DB01232)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Sulfasalazine(DB00795)|Sulfinpyrazone(DB01138)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Tenofovir(DB00300)|Tetrahydrofolic acid(DB00116)|Ursodeoxycholic acid(DB01586)|Vasopressin(DB00067)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)	AGAGCGGCTAGAGAAGTACTT	0.433																																						dbGAP											0																																										-	-	-	SO:0001583	missense	0			U63970	CCDS7484.1	10q24	2012-03-14			ENSG00000023839	ENSG00000023839		"""ATP binding cassette transporters / subfamily C"""	53	protein-coding gene	gene with protein product		601107	"""canalicular multispecific organic anion transporter 1"""	CMOAT		8797578, 9284939	Standard	XM_006717630		Approved	DJS, MRP2, cMRP	uc001kqf.2	Q92887	OTTHUMG00000018895	ENST00000370449.4:c.1840G>A	10.37:g.101569915G>A	ENSP00000359478:p.Glu614Lys		B2RMT8|Q14022|Q5T2B1|Q92500|Q92798|Q99663|Q9UMS2	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc	p.E614K	ENST00000370449.4	37	c.1840	CCDS7484.1	10	.	.	.	.	.	.	.	.	.	.	G	17.47	3.398819	0.62177	.	.	ENSG00000023839	ENST00000370449	T	0.38240	1.15	5.79	5.79	0.91817	ABC transporter, transmembrane domain, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.47340	0.1440	N	0.20328	0.56	0.80722	D	1	D	0.69078	0.997	D	0.68765	0.96	T	0.44590	-0.9318	10	0.48119	T	0.1	-14.4167	20.0234	0.97510	0.0:0.0:1.0:0.0	.	614	Q92887	MRP2_HUMAN	K	614	ENSP00000359478:E614K	ENSP00000359478:E614K	E	+	1	0	ABCC2	101559905	1.000000	0.71417	0.968000	0.41197	0.585000	0.36419	7.441000	0.80485	2.728000	0.93425	0.650000	0.86243	GAG	ABCC2	-	superfamily_ABC_transptrTM_dom_typ1,tigrfam_Multidrug-R_assoc	ENSG00000023839		0.433	ABCC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCC2	HGNC	protein_coding	OTTHUMT00000049825.1	123	0.81	1	G	NM_000392		101569915	101569915	+1	no_errors	ENST00000370449	ensembl	human	known	69_37n	missense	69	28.87	28	SNP	1.000	A
AMY2B	280	genome.wustl.edu	37	1	104112489	104112489	+	Intron	SNP	A	A	T			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr1:104112489A>T	ENST00000361355.4	+	3	570				AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)						carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GGTGCTGCTGACCGAGGACCC	0.532																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.-46-1690A>T	1.37:g.104112489A>T			B3KTI1|B3KXB7|D3DT76|Q9UBH3	RNA	SNP	-	NULL	ENST00000361355.4	37	NULL	CCDS782.1	1																																																																																			AMY2B	-	-	ENSG00000240038		0.532	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMY2B	HGNC	protein_coding	OTTHUMT00000030318.1	43	0.00	0	A	NM_020978		104112489	104112489	+1	no_errors	ENST00000491397	ensembl	human	known	69_37n	rna	31	42.59	23	SNP	1.000	T
ANK2	287	genome.wustl.edu	37	4	114274877	114274877	+	Silent	SNP	G	G	A			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr4:114274877G>A	ENST00000357077.4	+	38	5156	c.5103G>A	c.(5101-5103)aaG>aaA	p.K1701K	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000264366.6_Silent_p.K1668K|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1701					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGGGAATAAAGAAGCCAGTAA	0.418																																						dbGAP											0													69.0	75.0	73.0					4																	114274877		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.5103G>A	4.37:g.114274877G>A			Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.K1701	ENST00000357077.4	37	c.5103	CCDS3702.1	4																																																																																			ANK2	-	NULL	ENSG00000145362		0.418	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	146	0.68	1	G	NM_001148		114274877	114274877	+1	no_errors	ENST00000357077	ensembl	human	known	69_37n	silent	68	19.05	16	SNP	1.000	A
APOL2	23780	genome.wustl.edu	37	22	36623937	36623937	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr22:36623937C>A	ENST00000249066.6	-	6	1003	c.527G>T	c.(526-528)cGg>cTg	p.R176L	APOL2_ENST00000451256.2_Missense_Mutation_p.R288L|APOL2_ENST00000358502.5_Missense_Mutation_p.R176L	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2	176					acute-phase response (GO:0006953)|cholesterol metabolic process (GO:0008203)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|maternal process involved in female pregnancy (GO:0060135)|multicellular organismal development (GO:0007275)	endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|membrane (GO:0016020)	high-density lipoprotein particle binding (GO:0008035)|lipid binding (GO:0008289)|receptor binding (GO:0005102)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(2)	9						GGCTCGTGCCCGCAATTTGTT	0.522																																						dbGAP											0													59.0	63.0	62.0					22																	36623937		2084	4231	6315	-	-	-	SO:0001583	missense	0			AF324224	CCDS43014.1	22q12.3	2013-09-20			ENSG00000128335	ENSG00000128335		"""Apolipoproteins"""	619	protein-coding gene	gene with protein product	"""apolipoprotein L-II"""	607252				10591208, 11374903	Standard	NM_145637		Approved	APOL-II	uc003apa.3	Q9BQE5	OTTHUMG00000150634	ENST00000249066.6:c.527G>T	22.37:g.36623937C>A	ENSP00000249066:p.Arg176Leu		B0QYK7|O95915|Q59GW9|Q5TH96|Q969T6|Q9BT28|Q9UGT1|Q9UH10	Missense_Mutation	SNP	pfam_ApoL	p.R176L	ENST00000249066.6	37	c.527	CCDS43014.1	22	.	.	.	.	.	.	.	.	.	.	C	6.716	0.500728	0.12822	.	.	ENSG00000128335	ENST00000358502;ENST00000249066;ENST00000451256	T;T;T	0.02916	4.11;4.11;4.11	3.66	-3.28	0.05033	.	1.278100	0.05202	N	0.505169	T	0.01627	0.0052	N	0.08118	0	0.09310	N	1	P;B	0.39535	0.677;0.423	B;B	0.40444	0.329;0.165	T	0.39781	-0.9597	10	0.22109	T	0.4	.	2.2873	0.04129	0.1051:0.1582:0.2599:0.4768	.	288;176	B4E1T5;Q9BQE5	.;APOL2_HUMAN	L	176;176;288	ENSP00000351292:R176L;ENSP00000249066:R176L;ENSP00000403153:R288L	ENSP00000249066:R176L	R	-	2	0	APOL2	34953883	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.235000	0.09016	-0.228000	0.09869	-1.927000	0.00513	CGG	APOL2	-	pfam_ApoL	ENSG00000128335		0.522	APOL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	APOL2	HGNC	protein_coding	OTTHUMT00000319279.1	60	0.00	0	C	NM_145637		36623937	36623937	-1	no_errors	ENST00000249066	ensembl	human	known	69_37n	missense	70	11.39	9	SNP	0.000	A
ARID3B	10620	genome.wustl.edu	37	15	74836338	74836338	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr15:74836338G>A	ENST00000346246.5	+	2	292	c.61G>A	c.(61-63)Gct>Act	p.A21T		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	21	Gln-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)|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)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						gcCACACCTGGCTCCTCTGCA	0.552																																						dbGAP											0													19.0	21.0	21.0					15																	74836338		2197	4295	6492	-	-	-	SO:0001583	missense	0				CCDS10264.1	15q24	2013-02-07	2006-11-08		ENSG00000179361	ENSG00000179361		"""-"""	14350	protein-coding gene	gene with protein product		612457	"""AT rich interactive domain 3B (BRIGHT- like)"""				Standard	NM_006465		Approved	BDP, DRIL2	uc002ayd.3	Q8IVW6	OTTHUMG00000141321	ENST00000346246.5:c.61G>A	15.37:g.74836338G>A	ENSP00000343126:p.Ala21Thr		O95443|Q59HC9|Q6P9C9	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.A21T	ENST00000346246.5	37	c.61	CCDS10264.1	15	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684573	0.47991	.	.	ENSG00000179361	ENST00000382537;ENST00000346246;ENST00000395077	T	0.56611	0.45	5.54	1.57	0.23409	.	0.883271	0.09923	N	0.738153	T	0.32436	0.0829	N	0.19112	0.55	0.18873	N	0.999986	B;B;B	0.23540	0.004;0.006;0.087	B;B;B	0.20577	0.003;0.007;0.03	T	0.22836	-1.0205	10	0.20046	T	0.44	-0.8498	5.6851	0.17799	0.2186:0.2627:0.5187:0.0	.	21;21;21	Q8IVW6;Q8IVW6-4;B4DQB0	ARI3B_HUMAN;.;.	T	21	ENSP00000343126:A21T	ENSP00000343126:A21T	A	+	1	0	ARID3B	72623391	0.994000	0.37717	0.007000	0.13788	0.613000	0.37349	1.646000	0.37249	0.029000	0.15352	0.650000	0.86243	GCT	ARID3B	-	NULL	ENSG00000179361		0.552	ARID3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID3B	HGNC	protein_coding	OTTHUMT00000280688.2	153	0.00	0	G	NM_006465		74836338	74836338	+1	no_errors	ENST00000346246	ensembl	human	known	69_37n	missense	41	37.88	25	SNP	0.244	A
ARID4B	51742	genome.wustl.edu	37	1	235392550	235392550	+	Missense_Mutation	SNP	T	T	C			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr1:235392550T>C	ENST00000264183.3	-	11	1390	c.893A>G	c.(892-894)gAa>gGa	p.E298G	ARID4B_ENST00000349213.3_Missense_Mutation_p.E298G|ARID4B_ENST00000366603.2_Missense_Mutation_p.E298G	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	298	Glu-rich.				histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ACTTACTTCTTCTTCACTGCT	0.358																																						dbGAP											0													98.0	90.0	93.0					1																	235392550		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.893A>G	1.37:g.235392550T>C	ENSP00000264183:p.Glu298Gly		A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.E298G	ENST00000264183.3	37	c.893	CCDS31061.1	1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.178194	0.78564	.	.	ENSG00000054267	ENST00000391856;ENST00000349213;ENST00000366603;ENST00000264183;ENST00000439834;ENST00000418304	T;T;T;T	0.27256	1.75;1.68;1.68;1.77	5.81	4.69	0.59074	ARID/BRIGHT DNA-binding domain (2);	0.554917	0.18673	N	0.134392	T	0.25901	0.0631	N	0.08118	0	0.80722	D	1	P;D;D;D	0.67145	0.844;0.996;0.961;0.993	B;P;P;P	0.59056	0.277;0.851;0.691;0.714	T	0.12502	-1.0545	10	0.59425	D	0.04	-18.7814	11.7213	0.51683	0.0:0.0688:0.0:0.9312	.	298;298;298;298	F8WB31;Q4LE39-3;Q4LE39-2;Q4LE39	.;.;.;ARI4B_HUMAN	G	298	ENSP00000264184:E298G;ENSP00000355562:E298G;ENSP00000264183:E298G;ENSP00000391497:E298G	ENSP00000264183:E298G	E	-	2	0	ARID4B	233459173	1.000000	0.71417	0.998000	0.56505	0.959000	0.62525	6.413000	0.73308	1.041000	0.40125	0.533000	0.62120	GAA	ARID4B	-	superfamily_ARID/BRIGHT_DNA-bd	ENSG00000054267		0.358	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4B	HGNC	protein_coding	OTTHUMT00000095566.3	194	0.00	0	T	NM_016374		235392550	235392550	-1	no_errors	ENST00000264183	ensembl	human	known	69_37n	missense	307	25.30	104	SNP	1.000	C
ATP10D	57205	genome.wustl.edu	37	4	47593232	47593232	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr4:47593232G>A	ENST00000273859.3	+	23	4384	c.4115G>A	c.(4114-4116)gGa>gAa	p.G1372E		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1372					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GGCAAGTCAGGAAGAAGACCC	0.458																																						dbGAP											0													132.0	131.0	131.0					4																	47593232		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.4115G>A	4.37:g.47593232G>A	ENSP00000273859:p.Gly1372Glu		A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.G1372E	ENST00000273859.3	37	c.4115	CCDS3476.1	4	.	.	.	.	.	.	.	.	.	.	G	0.280	-0.987320	0.02180	.	.	ENSG00000145246	ENST00000273859	T	0.36878	1.23	4.7	1.79	0.24919	.	1.195290	0.06027	N	0.652442	T	0.14056	0.0340	N	0.02736	-0.51	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.23368	-1.0190	10	0.02654	T	1	-0.9666	6.9721	0.24654	0.1325:0.1683:0.6991:0.0	.	1372	Q9P241	AT10D_HUMAN	E	1372	ENSP00000273859:G1372E	ENSP00000273859:G1372E	G	+	2	0	ATP10D	47287989	0.003000	0.15002	0.001000	0.08648	0.097000	0.18754	0.590000	0.23954	0.128000	0.18479	0.460000	0.39030	GGA	ATP10D	-	NULL	ENSG00000145246		0.458	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10D	HGNC	protein_coding	OTTHUMT00000216900.1	154	0.00	0	G	NM_020453		47593232	47593232	+1	no_errors	ENST00000273859	ensembl	human	known	69_37n	missense	77	28.04	30	SNP	0.002	A
ATP13A2	23400	genome.wustl.edu	37	1	17320173	17320173	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr1:17320173G>C	ENST00000326735.8	-	16	1733	c.1700C>G	c.(1699-1701)aCc>aGc	p.T567S	RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000502860.1_5'Flank|ATP13A2_ENST00000341676.5_Missense_Mutation_p.T562S|ATP13A2_ENST00000452699.1_Missense_Mutation_p.T562S			Q9NQ11	AT132_HUMAN	ATPase type 13A2	567					cell death (GO:0008219)|cellular response to manganese ion (GO:0071287)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GCCCACGGGGGTGTCCTGGAG	0.692																																						dbGAP											0													11.0	13.0	12.0					1																	17320173		2203	4294	6497	-	-	-	SO:0001583	missense	0			AL354615	CCDS175.1, CCDS44072.1, CCDS44073.1	1p36	2014-09-17			ENSG00000159363	ENSG00000159363		"""ATPases / P-type"", ""Parkinson disease"""	30213	protein-coding gene	gene with protein product		610513	"""Parkinson disease (autosomal recessive) 9 (Kufor-Rakeb syndrome)"""	PARK9		15381061, 16964263	Standard	XM_005245809		Approved	HSA9947, CLN12	uc001baa.2	Q9NQ11	OTTHUMG00000002293	ENST00000326735.8:c.1700C>G	1.37:g.17320173G>C	ENSP00000327214:p.Thr567Ser		O75700|Q5JXY1|Q5JXY2|Q6S9Z9	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.T567S	ENST00000326735.8	37	c.1700	CCDS175.1	1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.695987	0.48202	.	.	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699	T;T;T	0.70631	-0.5;-0.5;-0.5	4.84	3.85	0.44370	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.254572	0.42294	D	0.000723	T	0.55465	0.1922	N	0.20807	0.61	0.26682	N	0.971512	P;B;B	0.35527	0.507;0.364;0.238	B;B;B	0.39590	0.304;0.134;0.105	T	0.46789	-0.9166	10	0.18276	T	0.48	-40.6022	12.2048	0.54346	0.0:0.0:0.7887:0.2113	.	562;562;567	Q5JXY1;Q6S9Z9;Q9NQ11	.;.;AT132_HUMAN	S	567;562;562	ENSP00000327214:T567S;ENSP00000341115:T562S;ENSP00000413307:T562S	ENSP00000327214:T567S	T	-	2	0	ATP13A2	17192760	0.695000	0.27747	0.995000	0.50966	0.984000	0.73092	1.696000	0.37773	2.506000	0.84524	0.491000	0.48974	ACC	ATP13A2	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_unknown-pump-sp	ENSG00000159363		0.692	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP13A2	HGNC	protein_coding	OTTHUMT00000006617.1	27	0.00	0	G	NM_022089		17320173	17320173	-1	no_errors	ENST00000326735	ensembl	human	known	69_37n	missense	16	23.81	5	SNP	0.934	C
BMP1	649	genome.wustl.edu	37	8	22037949	22037949	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr8:22037949G>A	ENST00000306385.5	+	8	1700	c.1030G>A	c.(1030-1032)Gct>Act	p.A344T	BMP1_ENST00000397814.3_Missense_Mutation_p.A344T|BMP1_ENST00000306349.8_Missense_Mutation_p.A344T|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397816.3_Missense_Mutation_p.A344T	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	344	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|lipoprotein metabolic process (GO:0042157)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|positive regulation of cartilage development (GO:0061036)|proteolysis (GO:0006508)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|membrane-bounded vesicle (GO:0031988)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TGGCTACTCTGCTCACATGCA	0.612																																						dbGAP											0													224.0	195.0	205.0					8																	22037949		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS6026.1, CCDS34856.1	8p21	2013-02-06	2004-08-09		ENSG00000168487	ENSG00000168487	3.4.24.19	"""Bone morphogenetic proteins"""	1067	protein-coding gene	gene with protein product	"""procollagen C-endopeptidase"""	112264	"""procollagen C-endopeptidase"""	PCOLC		2004778	Standard	NM_006129		Approved		uc003xbg.3	P13497	OTTHUMG00000097761	ENST00000306385.5:c.1030G>A	8.37:g.22037949G>A	ENSP00000305714:p.Ala344Thr		A8K6F5|B2RN46|D3DSR0|Q13292|Q13872|Q14874|Q99421|Q99422|Q99423|Q9UL38	Missense_Mutation	SNP	pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_BMP_1/tolloid-like,prints_Peptidase_M12A,pfscan_CUB,pfscan_EG-like_dom	p.A344T	ENST00000306385.5	37	c.1030	CCDS6026.1	8	.	.	.	.	.	.	.	.	.	.	G	21.4	4.143198	0.77888	.	.	ENSG00000168487	ENST00000306385;ENST00000397816;ENST00000306349;ENST00000397814	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.66	4.78	0.61160	CUB (5);	0.000000	0.38326	U	0.001736	T	0.50786	0.1636	L	0.42487	1.325	0.80722	D	1	B;D;P;P	0.76494	0.051;0.999;0.76;0.57	B;D;P;B	0.83275	0.06;0.996;0.66;0.312	T	0.41910	-0.9482	10	0.28530	T	0.3	.	14.9158	0.70795	0.0:0.0:0.8554:0.1446	.	344;417;344;344	P13497;Q59F71;P13497-2;P13497-6	BMP1_HUMAN;.;.;.	T	344	ENSP00000305714:A344T;ENSP00000380917:A344T;ENSP00000306121:A344T;ENSP00000380915:A344T	ENSP00000306121:A344T	A	+	1	0	BMP1	22093894	0.998000	0.40836	0.888000	0.34837	0.921000	0.55340	2.692000	0.47018	1.377000	0.46286	0.561000	0.74099	GCT	BMP1	-	pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB	ENSG00000168487		0.612	BMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP1	HGNC	protein_coding	OTTHUMT00000214995.2	106	0.00	0	G	NM_006132		22037949	22037949	+1	no_errors	ENST00000306385	ensembl	human	known	69_37n	missense	41	55.67	54	SNP	0.976	A
C15orf39	56905	genome.wustl.edu	37	15	75498847	75498847	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr15:75498847G>T	ENST00000360639.2	+	2	778	c.458G>T	c.(457-459)aGg>aTg	p.R153M	C15orf39_ENST00000394987.4_Missense_Mutation_p.R153M|C15orf39_ENST00000567617.1_Missense_Mutation_p.R153M			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	153						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						GCAGTGAAGAGGCCACTGGAT	0.622																																						dbGAP											0													67.0	64.0	65.0					15																	75498847		2197	4295	6492	-	-	-	SO:0001583	missense	0			AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.458G>T	15.37:g.75498847G>T	ENSP00000353854:p.Arg153Met		B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	NULL	p.R153M	ENST00000360639.2	37	c.458	CCDS10276.1	15	.	.	.	.	.	.	.	.	.	.	G	13.43	2.234239	0.39498	.	.	ENSG00000167173	ENST00000360639;ENST00000394987	T;T	0.68479	-0.33;-0.33	5.13	3.25	0.37280	.	0.308452	0.28431	N	0.015378	T	0.72875	0.3515	L	0.54323	1.7	0.33256	D	0.559056	D	0.69078	0.997	D	0.63192	0.912	T	0.78548	-0.2162	10	0.87932	D	0	-18.0874	8.7427	0.34567	0.1782:0.0:0.8218:0.0	.	153	Q6ZRI6	CO039_HUMAN	M	153	ENSP00000353854:R153M;ENSP00000378438:R153M	ENSP00000353854:R153M	R	+	2	0	C15orf39	73285900	1.000000	0.71417	0.975000	0.42487	0.797000	0.45037	1.729000	0.38115	0.565000	0.29255	0.561000	0.74099	AGG	C15orf39	-	NULL	ENSG00000167173		0.622	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf39	HGNC	protein_coding	OTTHUMT00000286410.1	65	0.00	0	G	NM_015492		75498847	75498847	+1	no_errors	ENST00000360639	ensembl	human	known	69_37n	missense	56	13.85	9	SNP	0.999	T
Unknown	0	genome.wustl.edu	37	16	88620345	88620345	+	IGR	SNP	A	A	C	rs28424075	byFrequency	TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr16:88620345A>C								ZFPM1 (16921 upstream) : ZC3H18 (16443 downstream)																							GGCGGGACGCACGCAGTGCAG	0.647																																						dbGAP											0													61.0	62.0	62.0					16																	88620345		2198	4300	6498	-	-	-	SO:0001628	intergenic_variant	0																															16.37:g.88620345A>C				Silent	SNP	NULL	p.R95		37	c.285		16																																																																																			C16orf85	-	NULL	ENSG00000205036	0	0.647					C16orf85	HGNC			24	0.00	0	A			88620345	88620345	-1	no_errors	ENST00000378416	ensembl	human	known	69_37n	silent	94	17.54	20	SNP	0.001	C
CABIN1	23523	genome.wustl.edu	37	22	24445682	24445682	+	Splice_Site	SNP	G	G	A			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr22:24445682G>A	ENST00000398319.2	+	7	1041	c.656G>A	c.(655-657)tGt>tAt	p.C219Y	CABIN1_ENST00000405822.2_Splice_Site_p.C219Y|CABIN1_ENST00000263119.5_Splice_Site_p.C219Y	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	219					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TTCCTCAAATGGTAAGTCCTG	0.537																																						dbGAP											0													95.0	88.0	91.0					22																	24445682		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.656+1G>A	22.37:g.24445682G>A			G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.C219Y	ENST00000398319.2	37	c.656	CCDS13823.1	22	.	.	.	.	.	.	.	.	.	.	G	12.52	1.963209	0.34659	.	.	ENSG00000099991	ENST00000454754;ENST00000263119;ENST00000405822;ENST00000445422;ENST00000398319;ENST00000536026	T;T;T;T;T	0.64085	0.37;0.03;-0.08;0.37;0.03	5.39	5.39	0.77823	.	0.042709	0.85682	D	0.000000	T	0.58807	0.2148	L	0.43152	1.355	0.80722	D	1	P;P;D;D	0.55172	0.883;0.773;0.97;0.96	P;P;B;B	0.48400	0.576;0.491;0.373;0.358	T	0.56202	-0.8018	10	0.02654	T	1	.	18.5963	0.91230	0.0:0.0:1.0:0.0	.	174;219;219;219	C9J068;F5H5W5;G5E9F3;Q9Y6J0	.;.;.;CABIN_HUMAN	Y	174;219;219;174;219;219	ENSP00000394209:C174Y;ENSP00000263119:C219Y;ENSP00000384694:C219Y;ENSP00000412389:C174Y;ENSP00000381364:C219Y	ENSP00000263119:C219Y	C	+	2	0	CABIN1	22775682	1.000000	0.71417	0.930000	0.37139	0.296000	0.27459	7.551000	0.82182	2.722000	0.93159	0.496000	0.49642	TGT;TGT;TGC;TGT;TGT;TGT	CABIN1	-	NULL	ENSG00000099991		0.537	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	HGNC	protein_coding	OTTHUMT00000320161.2	89	0.00	0	G	NM_012295	Missense_Mutation	24445682	24445682	+1	no_errors	ENST00000263119	ensembl	human	known	69_37n	missense	60	26.83	22	SNP	1.000	A
CADM2	253559	genome.wustl.edu	37	3	86010743	86010743	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr3:86010743G>A	ENST00000407528.2	+	7	951	c.889G>A	c.(889-891)Gaa>Aaa	p.E297K	CADM2_ENST00000383699.3_Missense_Mutation_p.E306K|CADM2_ENST00000405615.2_Missense_Mutation_p.E299K	NM_001167674.1	NP_001161146.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	297	Ig-like C2-type 2.				adherens junction organization (GO:0034332)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ATATCGATGTGAAGCCACAAA	0.413																																						dbGAP											0													136.0	123.0	127.0					3																	86010743		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF538973	CCDS33792.1, CCDS54613.1, CCDS54614.1	3p12.2	2013-01-11	2007-02-07	2007-02-07	ENSG00000175161	ENSG00000175161		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	29849	protein-coding gene	gene with protein product	"""nectin-like 3"""	609938	"""immunoglobulin superfamily, member 4D"""	IGSF4D			Standard	NM_153184		Approved	NECL3, Necl-3, SynCAM2	uc003dqj.3	Q8N3J6	OTTHUMG00000158990	ENST00000407528.2:c.889G>A	3.37:g.86010743G>A	ENSP00000384575:p.Glu297Lys		G3XHN7|G3XHN8|Q3KQY9|Q658Q7|Q8IZP8	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like	p.E299K	ENST00000407528.2	37	c.895	CCDS54614.1	3	.	.	.	.	.	.	.	.	.	.	G	33	5.284328	0.95517	.	.	ENSG00000175161	ENST00000383699;ENST00000407528;ENST00000405615	T;T;T	0.65364	-0.15;-0.15;-0.15	5.46	5.46	0.80206	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.64549	0.2608	N	0.17838	0.53	0.80722	D	1	B;D;D	0.61080	0.203;0.961;0.989	B;P;P	0.60173	0.09;0.689;0.87	T	0.61372	-0.7076	10	0.25106	T	0.35	.	19.3022	0.94148	0.0:0.0:1.0:0.0	.	299;306;297	Q8N3J6-3;G3XHN4;Q8N3J6	.;.;CADM2_HUMAN	K	306;297;299	ENSP00000373200:E306K;ENSP00000384575:E297K;ENSP00000384193:E299K	ENSP00000373200:E306K	E	+	1	0	CADM2	86093433	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	9.444000	0.97578	2.549000	0.85964	0.650000	0.86243	GAA	CADM2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	ENSG00000175161		0.413	CADM2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	CADM2	HGNC	protein_coding	OTTHUMT00000352822.1	128	0.78	1	G	NM_153184		86010743	86010743	+1	no_errors	ENST00000405615	ensembl	human	known	69_37n	missense	113	21.53	31	SNP	1.000	A
CASKIN1	57524	genome.wustl.edu	37	16	2235149	2235149	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr16:2235149C>A	ENST00000343516.6	-	12	1294	c.1202G>T	c.(1201-1203)gGg>gTg	p.G401V	CASKIN1_ENST00000564289.1_5'Flank	NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	401	CASK-binding. {ECO:0000250}.				signal transduction (GO:0007165)	cytoplasm (GO:0005737)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GGCGTGACCCCCGCTGCCCCG	0.706																																						dbGAP											0													16.0	24.0	22.0					16																	2235149		2005	4132	6137	-	-	-	SO:0001583	missense	0			AF451977	CCDS42103.1	16p13.3	2013-01-10				ENSG00000167971		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	20879	protein-coding gene	gene with protein product		612184				12040031	Standard	NM_020764		Approved	KIAA1306, ANKS5A	uc010bsg.1	Q8WXD9		ENST00000343516.6:c.1202G>T	16.37:g.2235149C>A	ENSP00000345436:p.Gly401Val		Q9P2P0	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt	p.G401V	ENST00000343516.6	37	c.1202	CCDS42103.1	16	.	.	.	.	.	.	.	.	.	.	C	12.73	2.027046	0.35797	.	.	ENSG00000167971	ENST00000343516;ENST00000382453	T	0.67171	-0.25	5.05	4.09	0.47781	.	.	.	.	.	T	0.67059	0.2853	M	0.65498	2.005	0.80722	D	1	D	0.54601	0.967	P	0.50970	0.655	T	0.68303	-0.5444	9	0.02654	T	1	-22.2224	12.8776	0.57999	0.0:0.8365:0.1635:0.0	.	401	Q8WXD9	CSKI1_HUMAN	V	401;230	ENSP00000345436:G401V	ENSP00000345436:G401V	G	-	2	0	CASKIN1	2175150	0.011000	0.17503	0.007000	0.13788	0.512000	0.34134	1.115000	0.31209	1.092000	0.41356	0.555000	0.69702	GGG	CASKIN1	-	NULL	ENSG00000167971		0.706	CASKIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASKIN1	HGNC	protein_coding	OTTHUMT00000435055.1	21	0.00	0	C	NM_020764		2235149	2235149	-1	no_errors	ENST00000343516	ensembl	human	known	69_37n	missense	9	47.06	8	SNP	0.694	A
CCDC82	79780	genome.wustl.edu	37	11	96117312	96117312	+	Silent	SNP	G	G	A			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr11:96117312G>A	ENST00000278520.5	-	3	1028	c.600C>T	c.(598-600)atC>atT	p.I200I	CCDC82_ENST00000542662.1_Silent_p.I200I|CCDC82_ENST00000423339.2_Silent_p.I200I|CCDC82_ENST00000525786.1_5'Flank			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	200										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TTCTAACTAGGATATCGCTGT	0.403																																						dbGAP											0													241.0	220.0	228.0					11																	96117312		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			AF245436	CCDS8307.1	11q21	2006-03-09			ENSG00000149231	ENSG00000149231			26282	protein-coding gene	gene with protein product						12477932	Standard	NM_024725		Approved	FLJ23518	uc001pfx.4	Q8N4S0	OTTHUMG00000167678	ENST00000278520.5:c.600C>T	11.37:g.96117312G>A			B3KPU7|Q8WV71|Q9H2Q5|Q9H5E3	Silent	SNP	NULL	p.I200	ENST00000278520.5	37	c.600	CCDS8307.1	11																																																																																			CCDC82	-	NULL	ENSG00000149231		0.403	CCDC82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC82	HGNC	protein_coding	OTTHUMT00000395542.2	124	0.00	0	G	NM_024725		96117312	96117312	-1	no_errors	ENST00000278520	ensembl	human	known	69_37n	silent	477	59.92	716	SNP	0.001	A
CDK15	65061	genome.wustl.edu	37	2	202744849	202744849	+	Missense_Mutation	SNP	A	A	T			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr2:202744849A>T	ENST00000374598.4	+	12	1157	c.1157A>T	c.(1156-1158)tAt>tTt	p.Y386F	CDK15_ENST00000260967.2_Missense_Mutation_p.Y335F|CDK15_ENST00000450471.2_Missense_Mutation_p.Y386F|CDK15_ENST00000410091.3_Missense_Mutation_p.Y335F|CDK15_ENST00000434439.1_Missense_Mutation_p.Y386F			Q96Q40	CDK15_HUMAN	cyclin-dependent kinase 15	386	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.						ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|metal ion binding (GO:0046872)			breast(3)|endometrium(2)|kidney(5)|large_intestine(1)|lung(14)|ovary(1)	26					Adenosine triphosphate(DB00171)	GTTCATGATTATTTCAGCGCC	0.572																																						dbGAP											0													85.0	72.0	77.0					2																	202744849		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB053308	CCDS2350.1, CCDS58746.1, CCDS58747.1	2q33.2	2011-11-08	2009-12-16	2009-12-16	ENSG00000138395	ENSG00000138395		"""Cyclin-dependent kinases"""	14434	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 7"", ""PFTAIRE protein kinase 2"""	ALS2CR7, PFTK2		11586298, 16236519, 19884882	Standard	NM_139158		Approved	PFTAIRE2	uc002uyt.3	Q96Q40	OTTHUMG00000132838	ENST00000374598.4:c.1157A>T	2.37:g.202744849A>T	ENSP00000363726:p.Tyr386Phe		A8K8R9|B8ZZX0|C9J1N8|C9K003|F8W6H8|Q4ZG86|Q53TV1|Q6ZMR9|Q8IUP1	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,pfscan_Prot_kinase_cat_dom	p.Y386F	ENST00000374598.4	37	c.1157		2	.	.	.	.	.	.	.	.	.	.	A	8.493	0.862430	0.17178	.	.	ENSG00000138395	ENST00000410091;ENST00000260967;ENST00000450471;ENST00000434439;ENST00000374598	T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02	6.06	4.85	0.62838	.	0.071050	0.64402	D	0.000017	T	0.27524	0.0676	N	0.17872	0.535	0.42742	D	0.993748	B	0.19583	0.037	B	0.20955	0.032	T	0.08207	-1.0733	10	0.32370	T	0.25	-11.7861	10.7045	0.45948	0.7553:0.0:0.0:0.2447	.	386	F8W6H8	.	F	335;335;386;386;386	ENSP00000386901:Y335F;ENSP00000260967:Y335F;ENSP00000406472:Y386F;ENSP00000412775:Y386F;ENSP00000363726:Y386F	ENSP00000260967:Y335F	Y	+	2	0	CDK15	202453094	1.000000	0.71417	0.962000	0.40283	0.057000	0.15508	2.540000	0.45727	2.327000	0.79052	0.533000	0.62120	TAT	CDK15	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000138395		0.572	CDK15-201	KNOWN	basic|appris_candidate_longest	protein_coding	CDK15	HGNC	protein_coding	OTTHUMT00000336053.2	73	0.00	0	A			202744849	202744849	+1	no_errors	ENST00000374598	ensembl	human	known	69_37n	missense	35	77.85	123	SNP	0.979	T
CELF6	60677	genome.wustl.edu	37	15	72579624	72579624	+	Silent	SNP	A	A	G			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr15:72579624A>G	ENST00000569547.1	-	12	1499	c.1428T>C	c.(1426-1428)gaT>gaC	p.D476D	CELF6_ENST00000569311.1_5'Flank|CELF6_ENST00000567083.1_Silent_p.D449D|CELF6_ENST00000539635.1_Silent_p.D337D|CELF6_ENST00000543764.2_Silent_p.D339D|CELF6_ENST00000395258.2_Silent_p.D363D|RP11-106M3.2_ENST00000379915.4_RNA|RP11-106M3.3_ENST00000570175.1_RNA|CELF6_ENST00000287202.5_Silent_p.D476D			Q96J87	CELF6_HUMAN	CUGBP, Elav-like family member 6	476					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(2)	13						GCCGGTTGGCATCCTTGGGCC	0.537																																						dbGAP											0													130.0	120.0	124.0					15																	72579624		2199	4297	6496	-	-	-	SO:0001819	synonymous_variant	0			AF425606	CCDS10242.1, CCDS53955.1, CCDS53956.1	15q24	2013-02-12	2010-02-19	2010-02-19	ENSG00000140488	ENSG00000140488		"""RNA binding motif (RRM) containing"""	14059	protein-coding gene	gene with protein product		612681	"""Bruno (Drosophila) -like 6, RNA binding protein"", ""bruno-like 6, RNA binding protein (Drosophila)"""	BRUNOL6		10893231	Standard	NM_052840		Approved		uc002auh.2	Q96J87	OTTHUMG00000133444	ENST00000569547.1:c.1428T>C	15.37:g.72579624A>G			B4DG28|B4DJB6|Q6PII4|Q6ZNJ7|Q8N607	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.D476	ENST00000569547.1	37	c.1428	CCDS10242.1	15																																																																																			CELF6	-	NULL	ENSG00000140488		0.537	CELF6-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	CELF6	HGNC	protein_coding	OTTHUMT00000420180.1	96	0.00	0	A	NM_052840		72579624	72579624	-1	no_errors	ENST00000569547	ensembl	human	known	69_37n	silent	125	39.02	80	SNP	1.000	G
CHRNB4	1143	genome.wustl.edu	37	15	78922214	78922214	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr15:78922214G>C	ENST00000261751.3	-	5	544	c.433C>G	c.(433-435)Ccc>Gcc	p.P145A	CHRNB4_ENST00000412074.2_Intron|RP11-335K5.2_ENST00000559120.1_RNA|CHRNB4_ENST00000560511.1_5'Flank	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	145					action potential (GO:0001508)|behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|locomotory behavior (GO:0007626)|regulation of neurotransmitter secretion (GO:0046928)|regulation of smooth muscle contraction (GO:0006940)|signal transduction (GO:0007165)|smooth muscle contraction (GO:0006939)|synaptic transmission (GO:0007268)|synaptic transmission involved in micturition (GO:0060084)|synaptic transmission, cholinergic (GO:0007271)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|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)			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22					Dextromethorphan(DB00514)|Galantamine(DB00674)|Levomethadyl Acetate(DB01227)|Nicotine(DB00184)|Pentolinium(DB01090)	ATGGCAGGGGGCAGCCACAGG	0.582																																						dbGAP											0													41.0	44.0	43.0					15																	78922214		2196	4293	6489	-	-	-	SO:0001583	missense	0			U48861	CCDS10306.1, CCDS58392.1	15q24	2012-02-11	2012-02-07		ENSG00000117971	ENSG00000117971		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1964	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, beta 4 (neuronal)"""	118509	"""cholinergic receptor, nicotinic, beta polypeptide 4"""			2004777	Standard	NM_000750		Approved		uc002bed.1	P30926	OTTHUMG00000143860	ENST00000261751.3:c.433C>G	15.37:g.78922214G>C	ENSP00000261751:p.Pro145Ala		A4FTX5|E9PHE8|Q16607|Q4VBA5|Q8WXC8|Q9BQR4	Missense_Mutation	SNP	pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.P145A	ENST00000261751.3	37	c.433	CCDS10306.1	15	.	.	.	.	.	.	.	.	.	.	G	23.5	4.423332	0.83559	.	.	ENSG00000117971	ENST00000261751	T	0.80214	-1.35	4.97	4.97	0.65823	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.88280	0.6394	L	0.58969	1.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89571	0.3813	10	0.87932	D	0	.	18.2167	0.89887	0.0:0.0:1.0:0.0	.	145	P30926	ACHB4_HUMAN	A	145	ENSP00000261751:P145A	ENSP00000261751:P145A	P	-	1	0	CHRNB4	76709269	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.800000	0.99124	2.301000	0.77427	0.655000	0.94253	CCC	CHRNB4	-	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,tigrfam_Neur_channel	ENSG00000117971		0.582	CHRNB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNB4	HGNC	protein_coding	OTTHUMT00000290108.1	103	0.96	1	G			78922214	78922214	-1	no_errors	ENST00000261751	ensembl	human	known	69_37n	missense	44	26.67	16	SNP	1.000	C
COL22A1	169044	genome.wustl.edu	37	8	139606389	139606389	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr8:139606389G>T	ENST00000303045.6	-	63	4932	c.4486C>A	c.(4486-4488)Caa>Aaa	p.Q1496K	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.Q1476K	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1496	Collagen-like 15.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGTCTGCCTTGAGATGACTTC	0.617										HNSCC(7;0.00092)																												dbGAP											0													37.0	42.0	40.0					8																	139606389		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4486C>A	8.37:g.139606389G>T	ENSP00000303153:p.Gln1496Lys		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A	p.Q1496K	ENST00000303045.6	37	c.4486	CCDS6376.1	8	.	.	.	.	.	.	.	.	.	.	G	9.419	1.082560	0.20309	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.93366	-3.21;-3.21	5.92	5.92	0.95590	.	0.135982	0.33401	N	0.004948	D	0.86477	0.5942	N	0.04994	-0.135	0.30149	N	0.803213	B;B	0.33777	0.076;0.425	B;B	0.39971	0.152;0.315	T	0.74970	-0.3482	10	0.02654	T	1	.	19.3538	0.94402	0.0:0.0:1.0:0.0	.	1476;1496	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	K	1496;1476;1189	ENSP00000303153:Q1496K;ENSP00000387655:Q1476K	ENSP00000303153:Q1496K	Q	-	1	0	COL22A1	139675571	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	6.902000	0.75699	2.820000	0.97059	0.650000	0.86243	CAA	COL22A1	-	pfam_Collagen	ENSG00000169436		0.617	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	COL22A1	HGNC	protein_coding	OTTHUMT00000315905.2	45	0.00	0	G	XM_291257		139606389	139606389	-1	no_errors	ENST00000303045	ensembl	human	known	69_37n	missense	44	21.43	12	SNP	1.000	T
COL6A5	256076	genome.wustl.edu	37	3	130142716	130142716	+	Missense_Mutation	SNP	G	G	A	rs556827478	byFrequency	TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr3:130142716G>A	ENST00000432398.2	+	29	5629	c.5135G>A	c.(5134-5136)cGa>cAa	p.R1712Q	COL6A5_ENST00000265379.6_Missense_Mutation_p.R1712Q	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1712	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GAGGGATCTCGAGGACTCCCA	0.413													G|||	2	0.000399361	0.0	0.0	5008	,	,		16024	0.0		0.0	False		,,,				2504	0.002					dbGAP											0													107.0	102.0	104.0					3																	130142716		692	1591	2283	-	-	-	SO:0001583	missense	0			AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.5135G>A	3.37:g.130142716G>A	ENSP00000390895:p.Arg1712Gln		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A	p.R1712Q	ENST00000432398.2	37	c.5135		3	.	.	.	.	.	.	.	.	.	.	G	0.018	-1.470269	0.01044	.	.	ENSG00000172752	ENST00000432398;ENST00000265379	D;D	0.93547	-3.24;-3.24	4.33	-8.66	0.00866	.	.	.	.	.	D	0.85230	0.5649	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.69745	-0.5062	9	0.15952	T	0.53	.	14.5364	0.67963	0.4708:0.0788:0.4504:0.0	.	1712	A8TX70-2	.	Q	1712	ENSP00000390895:R1712Q;ENSP00000265379:R1712Q	ENSP00000265379:R1712Q	R	+	2	0	COL6A5	131625406	0.000000	0.05858	0.000000	0.03702	0.116000	0.19942	-3.225000	0.00550	-7.317000	0.00001	-3.261000	0.00049	CGA	COL6A5	-	pfam_Collagen	ENSG00000172752		0.413	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	COL6A5	HGNC	protein_coding		160	0.00	0	G	NM_153264		130142716	130142716	+1	no_errors	ENST00000265379	ensembl	human	known	69_37n	missense	72	33.94	37	SNP	0.000	A
CRAT	1384	genome.wustl.edu	37	9	131866570	131866570	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr9:131866570G>A	ENST00000318080.2	-	3	601	c.307C>T	c.(307-309)Ctc>Ttc	p.L103F	AL158151.2_ENST00000408594.1_RNA|CRAT_ENST00000464290.1_Intron	NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	103					carnitine metabolic process, CoA-linked (GO:0019254)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	endoplasmic reticulum (GO:0005783)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	carnitine O-acetyltransferase activity (GO:0004092)|receptor binding (GO:0005102)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GCGGTCTTGAGCCACCACTCA	0.647																																						dbGAP											0													44.0	34.0	37.0					9																	131866570		2203	4300	6503	-	-	-	SO:0001583	missense	0			X78706	CCDS6919.1	9q34.1	2010-04-27	2010-04-27		ENSG00000095321	ENSG00000095321	2.3.1.7		2342	protein-coding gene	gene with protein product		600184	"""carnitine acetyltransferase"""			7829107	Standard	NM_000755		Approved	CAT1	uc004bxh.3	P43155	OTTHUMG00000147343	ENST00000318080.2:c.307C>T	9.37:g.131866570G>A	ENSP00000315013:p.Leu103Phe		Q5T952|Q9BW16	Missense_Mutation	SNP	pfam_Carn_acyl_trans	p.L103F	ENST00000318080.2	37	c.307	CCDS6919.1	9	.	.	.	.	.	.	.	.	.	.	G	15.73	2.921110	0.52653	.	.	ENSG00000095321	ENST00000351352;ENST00000318080	T	0.48201	0.82	5.3	5.3	0.74995	.	0.126972	0.53938	D	0.000058	T	0.40398	0.1115	L	0.60012	1.86	0.80722	D	1	P	0.39071	0.658	B	0.35727	0.209	T	0.24977	-1.0145	10	0.10111	T	0.7	-48.4209	13.3409	0.60545	0.0783:0.0:0.9217:0.0	.	103	P43155	CACP_HUMAN	F	103	ENSP00000315013:L103F	ENSP00000315013:L103F	L	-	1	0	CRAT	130906391	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.979000	0.63806	2.482000	0.83794	0.462000	0.41574	CTC	CRAT	-	pfam_Carn_acyl_trans	ENSG00000095321		0.647	CRAT-006	KNOWN	basic|appris_principal|CCDS	protein_coding	CRAT	HGNC	protein_coding	OTTHUMT00000253700.1	20	0.00	0	G			131866570	131866570	-1	no_errors	ENST00000318080	ensembl	human	known	69_37n	missense	8	61.54	16	SNP	1.000	A
CSTF1	1477	genome.wustl.edu	37	20	54978525	54978525	+	Splice_Site	SNP	C	C	G			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr20:54978525C>G	ENST00000217109.4	+	6	1390	c.1038C>G	c.(1036-1038)ggC>ggG	p.G346G	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	346					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			CTGTGGCAGGCGCGGGTTTAA	0.502																																						dbGAP											0													76.0	73.0	74.0					20																	54978525		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0				CCDS13452.1	20q13.31	2013-01-10	2002-08-29		ENSG00000101138	ENSG00000101138		"""WD repeat domain containing"""	2483	protein-coding gene	gene with protein product		600369	"""cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kD"""			1358884, 11257228	Standard	NM_001033521		Approved		uc002xxl.1	Q05048	OTTHUMG00000032791	ENST00000217109.4:c.1037-1C>G	20.37:g.54978525C>G			Q5QPD8	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G346	ENST00000217109.4	37	c.1038	CCDS13452.1	20																																																																																			CSTF1	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom	ENSG00000101138		0.502	CSTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF1	HGNC	protein_coding	OTTHUMT00000079794.2	147	0.68	1	C	NM_001033521	Silent	54978525	54978525	+1	no_errors	ENST00000217109	ensembl	human	known	69_37n	silent	97	25.38	33	SNP	0.001	G
DCHS2	54798	genome.wustl.edu	37	4	155225823	155225823	+	Missense_Mutation	SNP	A	A	T			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr4:155225823A>T	ENST00000357232.4	-	17	4237	c.4238T>A	c.(4237-4239)aTt>aAt	p.I1413N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	1413	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		aaacTTACCAATTATGTGATA	0.433																																						dbGAP											0													57.0	56.0	56.0					4																	155225823		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.4238T>A	4.37:g.155225823A>T	ENSP00000349768:p.Ile1413Asn		B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.I1413N	ENST00000357232.4	37	c.4238	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	A	6.772	0.511279	0.12883	.	.	ENSG00000197410	ENST00000357232	T	0.53206	0.63	4.32	3.12	0.35913	Cadherin (4);Cadherin-like (1);	0.381605	0.24645	N	0.036768	T	0.43433	0.1247	L	0.45352	1.415	0.36756	D	0.883019	P	0.50369	0.934	P	0.49637	0.617	T	0.48410	-0.9038	10	0.51188	T	0.08	.	4.9614	0.14068	0.6765:0.1558:0.1677:0.0	.	1413	Q6V1P9	PCD23_HUMAN	N	1413	ENSP00000349768:I1413N	ENSP00000349768:I1413N	I	-	2	0	DCHS2	155445273	0.052000	0.20516	0.534000	0.28014	0.041000	0.13682	0.447000	0.21710	0.615000	0.30124	0.379000	0.24179	ATT	DCHS2	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000197410		0.433	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	145	0.00	0	A	NM_001142552		155225823	155225823	-1	no_errors	ENST00000357232	ensembl	human	known	69_37n	missense	18	60.87	28	SNP	0.702	T
DNAH6	1768	genome.wustl.edu	37	2	84800708	84800708	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr2:84800708C>G	ENST00000237449.6	+	11	1929	c.1921C>G	c.(1921-1923)Cct>Gct	p.P641A	DNAH6_ENST00000389394.3_Missense_Mutation_p.P641A|DNAH6_ENST00000398278.2_Missense_Mutation_p.P641A			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	641	Stem. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ACTTCAGGAACCTGGTAACTT	0.358																																						dbGAP											0													92.0	103.0	99.0					2																	84800708		2202	4300	6502	-	-	-	SO:0001583	missense	0			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.1921C>G	2.37:g.84800708C>G	ENSP00000237449:p.Pro641Ala		A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.P641A	ENST00000237449.6	37	c.1921	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	C	7.407	0.634050	0.14322	.	.	ENSG00000115423	ENST00000389394;ENST00000398278;ENST00000237449	T;T;T	0.24723	1.84;1.96;1.84	4.95	4.95	0.65309	.	0.000000	0.48767	D	0.000167	T	0.30978	0.0782	L	0.50333	1.59	0.36998	D	0.895136	B;D	0.56035	0.001;0.974	B;P	0.47402	0.004;0.546	T	0.18085	-1.0348	10	0.22109	T	0.4	.	16.942	0.86220	0.0:1.0:0.0:0.0	.	641;220	Q9C0G6;Q9C0G6-3	DYH6_HUMAN;.	A	641	ENSP00000374045:P641A;ENSP00000381326:P641A;ENSP00000237449:P641A	ENSP00000237449:P641A	P	+	1	0	DNAH6	84654219	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.314000	0.65804	2.272000	0.75746	0.491000	0.48974	CCT	DNAH6	-	NULL	ENSG00000115423		0.358	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	198	0.00	0	C	NM_001370		84800708	84800708	+1	no_errors	ENST00000237449	ensembl	human	known	69_37n	missense	112	32.53	54	SNP	1.000	G
DSCAML1	57453	genome.wustl.edu	37	11	117306445	117306445	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr11:117306445G>C	ENST00000321322.6	-	27	4972	c.4971C>G	c.(4969-4971)tgC>tgG	p.C1657W	DSCAML1_ENST00000527706.1_Missense_Mutation_p.C1387W	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1597					axonogenesis (GO:0007409)|brain development (GO:0007420)|cell fate determination (GO:0001709)|central nervous system development (GO:0007417)|dendrite self-avoidance (GO:0070593)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|homophilic cell adhesion (GO:0007156)|negative regulation of cell adhesion (GO:0007162)	cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GGATGACAGGGCAGCCGATGG	0.542																																						dbGAP											0													149.0	110.0	123.0					11																	117306445		2201	4296	6497	-	-	-	SO:0001583	missense	0				CCDS8384.1	11q22.2-q22.3	2013-02-11			ENSG00000177103	ENSG00000177103		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	14656	protein-coding gene	gene with protein product		611782				11453658	Standard	NM_020693		Approved	KIAA1132	uc001prh.1	Q8TD84	OTTHUMG00000167071	ENST00000321322.6:c.4971C>G	11.37:g.117306445G>C	ENSP00000315465:p.Cys1657Trp		Q76MU9|Q8IZY3|Q8IZY4|Q8WXU7|Q9ULT7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.C1657W	ENST00000321322.6	37	c.4971	CCDS8384.1	11	.	.	.	.	.	.	.	.	.	.	G	15.58	2.874509	0.51695	.	.	ENSG00000177103	ENST00000527706;ENST00000321322;ENST00000446508	T;T	0.62105	0.09;0.05	4.47	2.56	0.30785	.	.	.	.	.	T	0.65471	0.2694	L	0.36672	1.1	0.80722	D	1	D	0.56287	0.975	P	0.60609	0.877	T	0.66073	-0.6014	9	0.87932	D	0	.	10.7368	0.46130	0.1568:0.0:0.8432:0.0	.	1597	Q8TD84	DSCL1_HUMAN	W	1387;1657;1364	ENSP00000434335:C1387W;ENSP00000315465:C1657W	ENSP00000315465:C1657W	C	-	3	2	DSCAML1	116811655	1.000000	0.71417	0.998000	0.56505	0.929000	0.56500	1.742000	0.38248	0.610000	0.30035	0.655000	0.94253	TGC	DSCAML1	-	NULL	ENSG00000177103		0.542	DSCAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSCAML1	HGNC	protein_coding	OTTHUMT00000392907.2	162	0.61	1	G	NM_020693		117306445	117306445	-1	no_errors	ENST00000321322	ensembl	human	known	69_37n	missense	71	18.39	16	SNP	1.000	C
DST	667	genome.wustl.edu	37	6	56484032	56484032	+	Silent	SNP	T	T	A			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr6:56484032T>A	ENST00000370765.6	-	23	4907	c.4800A>T	c.(4798-4800)atA>atT	p.I1600I	DST_ENST00000446842.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000244364.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	6343					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTCTAAAACTATATTCTCTG	0.368																																						dbGAP											0													141.0	140.0	141.0					6																	56484032		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000370765.6:c.4800A>T	6.37:g.56484032T>A			B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Silent	SNP	pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.I1600	ENST00000370765.6	37	c.4800	CCDS4959.1	6																																																																																			DST	-	NULL	ENSG00000151914		0.368	DST-010	KNOWN	basic|CCDS	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041027.2	192	0.00	0	T	NM_001723		56484032	56484032	-1	no_errors	ENST00000370765	ensembl	human	known	69_37n	silent	191	35.69	106	SNP	0.000	A
DSE	29940	genome.wustl.edu	37	6	116757125	116757125	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr6:116757125G>T	ENST00000331677.3	+	7	1938	c.1494G>T	c.(1492-1494)tgG>tgT	p.W498C	DSE_ENST00000359564.2_Missense_Mutation_p.W498C|DSE_ENST00000452085.3_Missense_Mutation_p.W498C|DSE_ENST00000537543.1_Missense_Mutation_p.W517C			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	498					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	chondroitin-glucuronate 5-epimerase activity (GO:0047757)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TTTCTCCCTGGGTGGGTCAGG	0.483																																						dbGAP											0													65.0	60.0	62.0					6																	116757125		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF098066	CCDS5107.1	6q22	2008-02-05	2007-01-29	2007-01-29	ENSG00000111817	ENSG00000111817	5.1.3.19		21144	protein-coding gene	gene with protein product		605942	"""squamous cell carcinoma antigen recognized by T cells 2"""	SART2		11920522, 16505484	Standard	NM_001080976		Approved	DSEPI	uc003pws.3	Q9UL01	OTTHUMG00000015434	ENST00000331677.3:c.1494G>T	6.37:g.116757125G>T	ENSP00000332151:p.Trp498Cys		Q5R3K6	Missense_Mutation	SNP	superfamily_Chondroitin_lyas	p.W517C	ENST00000331677.3	37	c.1551	CCDS5107.1	6	.	.	.	.	.	.	.	.	.	.	G	17.86	3.492047	0.64074	.	.	ENSG00000111817	ENST00000452085;ENST00000537543;ENST00000331677;ENST00000359564	T;T;T;T	0.23754	1.9;1.89;1.9;1.9	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	M	0.74881	2.28	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.46707	-0.9172	10	0.66056	D	0.02	-9.2224	20.0384	0.97572	0.0:0.0:1.0:0.0	.	517;498	B7Z765;Q9UL01	.;DSE_HUMAN	C	498;517;498;498	ENSP00000404049:W498C;ENSP00000441152:W517C;ENSP00000332151:W498C;ENSP00000352567:W498C	ENSP00000332151:W498C	W	+	3	0	DSE	116863818	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.739000	0.98837	2.748000	0.94277	0.650000	0.86243	TGG	DSE	-	NULL	ENSG00000111817		0.483	DSE-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DSE	HGNC	protein_coding	OTTHUMT00000041940.2	35	0.00	0	G	NM_013352		116757125	116757125	+1	no_errors	ENST00000537543	ensembl	human	known	69_37n	missense	15	71.15	37	SNP	1.000	T
EDN2	1907	genome.wustl.edu	37	1	41948218	41948218	+	Missense_Mutation	SNP	C	C	G	rs538985161		TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr1:41948218C>G	ENST00000372587.4	-	3	332	c.263G>C	c.(262-264)cGg>cCg	p.R88P	EDN2_ENST00000490783.1_5'UTR	NM_001956.3	NP_001947.1	P20800	EDN2_HUMAN	endothelin 2	88					artery smooth muscle contraction (GO:0014824)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|energy homeostasis (GO:0097009)|hormonal regulation of the force of heart contraction (GO:0003058)|inositol phosphate-mediated signaling (GO:0048016)|lung alveolus development (GO:0048286)|macrophage activation (GO:0042116)|macrophage chemotaxis (GO:0048246)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of heart rate (GO:0010460)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of the force of heart contraction by chemical signal (GO:0003099)|prostaglandin biosynthetic process (GO:0001516)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|temperature homeostasis (GO:0001659)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)			endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGAGCGGCGCCGGCGTCTTGG	0.657																																						dbGAP											0													25.0	33.0	30.0					1																	41948218		2201	4296	6497	-	-	-	SO:0001583	missense	0			M65199	CCDS462.1	1p34	2013-02-26			ENSG00000127129	ENSG00000127129		"""Endogenous ligands"""	3177	protein-coding gene	gene with protein product		131241					Standard	NM_001956		Approved	ET2	uc009vwh.3	P20800	OTTHUMG00000006362	ENST00000372587.4:c.263G>C	1.37:g.41948218C>G	ENSP00000361668:p.Arg88Pro		Q5T1R3	Missense_Mutation	SNP	pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D	p.R88P	ENST00000372587.4	37	c.263	CCDS462.1	1	.	.	.	.	.	.	.	.	.	.	C	19.66	3.869386	0.72065	.	.	ENSG00000127129	ENST00000372587	D	0.86030	-2.06	5.29	3.42	0.39159	.	0.250088	0.41194	D	0.000927	D	0.89805	0.6821	M	0.80183	2.485	0.44366	D	0.997268	D	0.63046	0.992	P	0.59703	0.862	D	0.89281	0.3612	10	0.72032	D	0.01	-10.1609	9.238	0.37477	0.0:0.8316:0.0:0.1684	.	88	P20800	EDN2_HUMAN	P	88	ENSP00000361668:R88P	ENSP00000361668:R88P	R	-	2	0	EDN2	41720805	1.000000	0.71417	0.997000	0.53966	0.906000	0.53458	1.584000	0.36589	0.797000	0.33971	0.655000	0.94253	CGG	EDN2	-	NULL	ENSG00000127129		0.657	EDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDN2	HGNC	protein_coding	OTTHUMT00000016983.1	13	0.00	0	C	NM_001956		41948218	41948218	-1	no_errors	ENST00000372587	ensembl	human	known	69_37n	missense	11	35.29	6	SNP	1.000	G
EFCAB12	90288	genome.wustl.edu	37	3	129134218	129134218	+	Silent	SNP	C	C	T			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr3:129134218C>T	ENST00000505956.1	-	4	870	c.708G>A	c.(706-708)gaG>gaA	p.E236E	EFCAB12_ENST00000326085.3_Silent_p.E236E	NM_207307.1	NP_997190.1	Q6NXP0	EFC12_HUMAN	EF-hand calcium binding domain 12	236							calcium ion binding (GO:0005509)										TATCCTCCACCTCTTGGTTCT	0.522																																						dbGAP											0													134.0	132.0	133.0					3																	129134218		2018	4175	6193	-	-	-	SO:0001819	synonymous_variant	0			AK096099	CCDS54638.1	3q21.3	2013-01-10	2012-07-20	2012-07-20	ENSG00000172771	ENSG00000172771		"""EF-hand domain containing"""	28061	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 25"""	C3orf25			Standard	NM_207307		Approved		uc003emg.3	Q6NXP0	OTTHUMG00000159464	ENST00000505956.1:c.708G>A	3.37:g.129134218C>T			Q69YX4	Silent	SNP	pfscan_EF_HAND_2	p.E236	ENST00000505956.1	37	c.708	CCDS54638.1	3																																																																																			EFCAB12	-	NULL	ENSG00000172771		0.522	EFCAB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB12	HGNC	protein_coding	OTTHUMT00000355530.1	217	0.00	0	C	NM_207307		129134218	129134218	-1	no_errors	ENST00000326085	ensembl	human	known	69_37n	silent	114	45.50	96	SNP	0.143	T
ERBB3	2065	genome.wustl.edu	37	12	56488314	56488314	+	Silent	SNP	G	G	C			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr12:56488314G>C	ENST00000267101.3	+	15	2273	c.1833G>C	c.(1831-1833)cgG>cgC	p.R611R	ERBB3_ENST00000553131.1_5'Flank|ERBB3_ENST00000450146.2_5'UTR|ERBB3_ENST00000415288.2_Silent_p.R552R	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	611					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			ATGAATGTCGGCCCTGCCATG	0.552																																						dbGAP											0													56.0	55.0	56.0					12																	56488314		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.1833G>C	12.37:g.56488314G>C			A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	NULL	p.G25A	ENST00000267101.3	37	c.74	CCDS31833.1	12																																																																																			ERBB3	-	NULL	ENSG00000065361		0.552	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	64	0.00	0	G			56488314	56488314	+1	no_errors	ENST00000550869	ensembl	human	known	69_37n	missense	32	36.00	18	SNP	1.000	C
FAM53C	51307	genome.wustl.edu	37	5	137681244	137681244	+	Silent	SNP	C	C	T	rs541723960		TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr5:137681244C>T	ENST00000239906.5	+	4	1295	c.867C>T	c.(865-867)caC>caT	p.H289H	FAM53C_ENST00000513056.1_Missense_Mutation_p.T99M|RP11-256P1.1_ENST00000504539.1_RNA|FAM53C_ENST00000434981.2_Silent_p.H289H	NM_016605.2	NP_057689.1	Q9NYF3	FA53C_HUMAN	family with sequence similarity 53, member C	289										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			AGCGGCGCCACGAGGAAGACC	0.617																																						dbGAP											0													46.0	56.0	53.0					5																	137681244		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF251040	CCDS4204.1	5q31	2008-02-05	2004-11-24	2004-11-26	ENSG00000120709	ENSG00000120709			1336	protein-coding gene	gene with protein product		609372	"""chromosome 5 open reading frame 6"""	C5orf6		11087669, 11161817	Standard	NM_001135647		Approved		uc003lcv.3	Q9NYF3	OTTHUMG00000129201	ENST00000239906.5:c.867C>T	5.37:g.137681244C>T			B2RDJ5|D3DQB9	Missense_Mutation	SNP	NULL	p.T99M	ENST00000239906.5	37	c.296	CCDS4204.1	5	.	.	.	.	.	.	.	.	.	.	C	9.707	1.156132	0.21454	.	.	ENSG00000120709	ENST00000513056	T	0.51817	0.69	5.55	-8.01	0.01122	.	.	.	.	.	T	0.36826	0.0981	.	.	.	0.21802	N	0.999533	B	0.12013	0.005	B	0.08055	0.003	T	0.31447	-0.9943	8	0.87932	D	0	-7.4879	17.4804	0.87671	0.0:0.1218:0.0:0.8782	.	99	D6RE00	.	M	99	ENSP00000425154:T99M	ENSP00000425154:T99M	T	+	2	0	FAM53C	137709143	0.000000	0.05858	0.896000	0.35187	0.958000	0.62258	-3.274000	0.00531	-1.345000	0.02214	-1.127000	0.01993	ACG	FAM53C	-	NULL	ENSG00000120709		0.617	FAM53C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM53C	HGNC	protein_coding	OTTHUMT00000251278.2	32	0.00	0	C	NM_016605		137681244	137681244	+1	no_errors	ENST00000513056	ensembl	human	putative	69_37n	missense	14	33.33	7	SNP	0.453	T
FAM86DP	692099	genome.wustl.edu	37	3	75471777	75471777	+	RNA	SNP	G	G	A	rs112361877	byFrequency	TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr3:75471777G>A	ENST00000459803.1	-	0	1364					NR_024241.1				family with sequence similarity 86, member D, pseudogene																		CAGGGATGTGGCAGCTGCAGT	0.527													.|||	311	0.0621006	0.1815	0.0173	5008	,	,		17421	0.003		0.0199	False		,,,				2504	0.0368					dbGAP											0																																										-	-	-			0			BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75471777G>A				RNA	SNP	-	NULL	ENST00000459803.1	37	NULL		3																																																																																			FAM86DP	-	-	ENSG00000244026		0.527	FAM86DP-003	KNOWN	basic	processed_transcript	FAM86DP	HGNC	pseudogene	OTTHUMT00000352425.1	10	0.00	0	G	NR_024241		75471777	75471777	-1	no_errors	ENST00000459803	ensembl	human	known	69_37n	rna	4	75.00	12	SNP	0.001	A
FAT3	120114	genome.wustl.edu	37	11	92538383	92538383	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr11:92538383G>T	ENST00000298047.6	+	10	8978	c.8961G>T	c.(8959-8961)aaG>aaT	p.K2987N	FAT3_ENST00000525166.1_Missense_Mutation_p.K2837N|FAT3_ENST00000409404.2_Missense_Mutation_p.K2987N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2987	Cadherin 27. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TCTATGTGAAGAGGCCTCTAG	0.468										TCGA Ovarian(4;0.039)																												dbGAP											0													88.0	90.0	89.0					11																	92538383		1910	4132	6042	-	-	-	SO:0001583	missense	0			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.8961G>T	11.37:g.92538383G>T	ENSP00000298047:p.Lys2987Asn		B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin	p.K2987N	ENST00000298047.6	37	c.8961		11	.	.	.	.	.	.	.	.	.	.	G	20.3	3.973254	0.74246	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166	T;T;T	0.53206	0.63;0.63;0.63	6.06	5.15	0.70609	.	.	.	.	.	T	0.55609	0.1931	L	0.40543	1.245	0.80722	D	1	D	0.65815	0.995	D	0.65987	0.94	T	0.48758	-0.9007	9	0.38643	T	0.18	.	11.9332	0.52857	0.1283:0.0:0.8717:0.0	.	2987	Q8TDW7-3	.	N	2987;2987;2837	ENSP00000298047:K2987N;ENSP00000387040:K2987N;ENSP00000432586:K2837N	ENSP00000298047:K2987N	K	+	3	2	FAT3	92178031	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.418000	0.44662	2.880000	0.98712	0.650000	0.86243	AAG	FAT3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000165323		0.468	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		88	0.00	0	G	NM_001008781		92538383	92538383	+1	no_errors	ENST00000298047	ensembl	human	known	69_37n	missense	89	35.97	50	SNP	1.000	T
FBXL4	26235	genome.wustl.edu	37	6	99365418	99365418	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr6:99365418G>T	ENST00000369244.2	-	5	1118	c.690C>A	c.(688-690)gaC>gaA	p.D230E	FBXL4_ENST00000229971.1_Missense_Mutation_p.D230E	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	230					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		GCACTGGCTTGTCCTTCACAC	0.378																																						dbGAP											0													121.0	115.0	117.0					6																	99365418		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"""F-boxes / Leucine-rich repeats"""	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.690C>A	6.37:g.99365418G>T	ENSP00000358247:p.Asp230Glu		B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.D230E	ENST00000369244.2	37	c.690	CCDS5041.1	6	.	.	.	.	.	.	.	.	.	.	G	1.599	-0.526939	0.04141	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.12465	2.68;2.68	5.62	2.71	0.32032	.	0.049284	0.85682	D	0.000000	T	0.00784	0.0026	N	0.00771	-1.2	0.34790	D	0.735631	B	0.02656	0.0	B	0.04013	0.001	T	0.43686	-0.9376	10	0.06625	T	0.88	.	3.491	0.07637	0.0786:0.1738:0.3876:0.36	.	230	Q9UKA2	FBXL4_HUMAN	E	230	ENSP00000358247:D230E;ENSP00000229971:D230E	ENSP00000229971:D230E	D	-	3	2	FBXL4	99472139	1.000000	0.71417	1.000000	0.80357	0.786000	0.44442	1.172000	0.31908	0.728000	0.32382	-0.373000	0.07131	GAC	FBXL4	-	NULL	ENSG00000112234		0.378	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL4	HGNC	protein_coding	OTTHUMT00000041587.2	198	0.50	1	G			99365418	99365418	-1	no_errors	ENST00000229971	ensembl	human	known	69_37n	missense	94	18.26	21	SNP	1.000	T
FGL2	10875	genome.wustl.edu	37	7	76825866	76825866	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr7:76825866G>T	ENST00000248598.5	-	2	1082	c.1050C>A	c.(1048-1050)aaC>aaA	p.N350K	RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000431197.1_Intron|CCDC146_ENST00000285871.4_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	350	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)				breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						TCAGATCGTGGTTGTAATGTT	0.403																																						dbGAP											0													182.0	153.0	163.0					7																	76825866		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z36531	CCDS5591.1	7q11.23	2013-02-06			ENSG00000127951	ENSG00000127951		"""Fibrinogen C domain containing"""	3696	protein-coding gene	gene with protein product		605351				7642106	Standard	NM_006682		Approved	pT49, T49	uc003ugb.3	Q14314	OTTHUMG00000130681	ENST00000248598.5:c.1050C>A	7.37:g.76825866G>T	ENSP00000248598:p.Asn350Lys			Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.N350K	ENST00000248598.5	37	c.1050	CCDS5591.1	7	.	.	.	.	.	.	.	.	.	.	G	17.75	3.465906	0.63513	.	.	ENSG00000127951	ENST00000248598	T	0.80994	-1.44	6.03	4.22	0.49857	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.000000	0.85682	D	0.000000	D	0.85071	0.5613	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.81711	-0.0808	10	0.14252	T	0.57	.	10.6407	0.45592	0.2034:0.0:0.7966:0.0	.	350	Q14314	FGL2_HUMAN	K	350	ENSP00000248598:N350K	ENSP00000248598:N350K	N	-	3	2	FGL2	76663802	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	3.182000	0.50910	1.547000	0.49401	0.655000	0.94253	AAC	FGL2	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	ENSG00000127951		0.403	FGL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGL2	HGNC	protein_coding	OTTHUMT00000253176.1	164	0.00	0	G	NM_006682		76825866	76825866	-1	no_errors	ENST00000248598	ensembl	human	known	69_37n	missense	139	42.32	102	SNP	1.000	T
GABRA3	2556	genome.wustl.edu	37	X	151358338	151358338	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chrX:151358338G>A	ENST00000370314.4	-	9	1245	c.1007C>T	c.(1006-1008)aCg>aTg	p.T336M	GABRA3_ENST00000535043.1_Missense_Mutation_p.T336M|GABRA3_ENST00000497894.1_5'UTR	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	336					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|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)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	GTCCATGGCCGTCGCATATGC	0.473																																					NSCLC(142;2578 2613 10251 16743)	dbGAP											0													83.0	79.0	80.0					X																	151358338		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4077	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 3"""	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.1007C>T	X.37:g.151358338G>A	ENSP00000359337:p.Thr336Met		Q8TAF9	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa3_rcpt,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.T336M	ENST00000370314.4	37	c.1007	CCDS14706.1	X	.	.	.	.	.	.	.	.	.	.	G	22.6	4.307917	0.81247	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043	D;D;D	0.82803	-1.65;-1.65;-1.65	5.56	5.56	0.83823	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.000000	0.85682	D	0.000000	D	0.89774	0.6812	M	0.63208	1.945	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	D	0.90729	0.4641	10	0.87932	D	0	.	15.8263	0.78709	0.0:0.0:1.0:0.0	.	336	P34903	GBRA3_HUMAN	M	336	ENSP00000359337:T336M;ENSP00000359334:T336M;ENSP00000443527:T336M	ENSP00000359334:T336M	T	-	2	0	GABRA3	151108994	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.804000	0.99143	2.335000	0.79485	0.597000	0.82753	ACG	GABRA3	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,tigrfam_Neur_channel	ENSG00000011677		0.473	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRA3	HGNC	protein_coding	OTTHUMT00000060921.1	154	0.00	0	G	NM_000808		151358338	151358338	-1	no_errors	ENST00000370311	ensembl	human	known	69_37n	missense	58	58.27	81	SNP	1.000	A
GLB1L	79411	genome.wustl.edu	37	2	220101969	220101969	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr2:220101969C>T	ENST00000295759.7	-	17	2103	c.1790G>A	c.(1789-1791)gGa>gAa	p.G597E	GLB1L_ENST00000409640.1_Missense_Mutation_p.G507E|GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000392089.2_Missense_Mutation_p.G597E|GLB1L_ENST00000356283.3_Missense_Mutation_p.G507E			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	597					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTTGAGGGCTCCCCTAGGAAA	0.488																																						dbGAP											0													118.0	117.0	117.0					2																	220101969		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.1790G>A	2.37:g.220101969C>T	ENSP00000295759:p.Gly597Glu		Q96DR0	Missense_Mutation	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.G597E	ENST00000295759.7	37	c.1790	CCDS2437.1	2	.	.	.	.	.	.	.	.	.	.	C	0.754	-0.771907	0.02951	.	.	ENSG00000163521	ENST00000295759;ENST00000409640;ENST00000392089;ENST00000356283	D;D;D;D	0.96716	-4.1;-4.1;-4.1;-4.1	5.38	4.51	0.55191	Galactose-binding domain-like (1);	0.000000	0.48767	D	0.000172	D	0.86887	0.6041	N	0.10645	0.015	0.09310	N	1	B;B	0.26445	0.01;0.149	B;B	0.20955	0.004;0.032	T	0.75611	-0.3258	10	0.06494	T	0.89	-7.5916	6.8276	0.23893	0.0:0.7033:0.1461:0.1505	.	507;597	Q6UWU2-2;Q6UWU2	.;GLB1L_HUMAN	E	597;507;597;507	ENSP00000295759:G597E;ENSP00000386354:G507E;ENSP00000375939:G597E;ENSP00000348628:G507E	ENSP00000295759:G597E	G	-	2	0	GLB1L	219810213	0.004000	0.15560	0.296000	0.24974	0.961000	0.63080	1.096000	0.30976	1.503000	0.48686	0.655000	0.94253	GGA	GLB1L	-	superfamily_Galactose-bd-like	ENSG00000163521		0.488	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L	HGNC	protein_coding	OTTHUMT00000256822.2	218	0.00	0	C	NM_024506		220101969	220101969	-1	no_errors	ENST00000295759	ensembl	human	known	69_37n	missense	59	73.06	160	SNP	0.004	T
GPD1	2819	genome.wustl.edu	37	12	50500636	50500636	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr12:50500636C>T	ENST00000301149.3	+	5	780	c.548C>T	c.(547-549)aCa>aTa	p.T183I	GPD1_ENST00000548814.1_Missense_Mutation_p.T160I|GPD1_ENST00000547190.1_3'UTR	NM_001257199.1|NM_005276.3	NP_001244128.1|NP_005267.2	P21695	GPDA_HUMAN	glycerol-3-phosphate dehydrogenase 1 (soluble)	183					cellular lipid metabolic process (GO:0044255)|cellular response to cAMP (GO:0071320)|cellular response to tumor necrosis factor (GO:0071356)|gluconeogenesis (GO:0006094)|glycerol-3-phosphate catabolic process (GO:0046168)|glycerophosphate shuttle (GO:0006127)|glycerophospholipid biosynthetic process (GO:0046474)|NADH oxidation (GO:0006116)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of glycolytic process (GO:0045821)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycerol-3-phosphate dehydrogenase complex (GO:0009331)|mitochondrion (GO:0005739)	glycerol-3-phosphate dehydrogenase [NAD+] activity (GO:0004367)|glycerol-3-phosphate dehydrogenase activity (GO:0004368)|NAD binding (GO:0051287)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CTGATGCAGACACCAAACTTC	0.527																																					NSCLC(141;1402 1905 9497 13391 44868)	dbGAP											0													70.0	62.0	64.0					12																	50500636		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS8799.1, CCDS58229.1	12q13.12	2013-09-20			ENSG00000167588	ENSG00000167588	1.1.1.8		4455	protein-coding gene	gene with protein product		138420					Standard	NM_005276		Approved		uc001rvz.4	P21695	OTTHUMG00000169813	ENST00000301149.3:c.548C>T	12.37:g.50500636C>T	ENSP00000301149:p.Thr183Ile		F8W1L5|Q8N1B0	Missense_Mutation	SNP	pfam_G3P_DH_NAD-dep_N,pfam_G3P_DH_NAD-dep_C,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,prints_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk	p.T183I	ENST00000301149.3	37	c.548	CCDS8799.1	12	.	.	.	.	.	.	.	.	.	.	C	31	5.059053	0.93846	.	.	ENSG00000167588	ENST00000301149;ENST00000547190;ENST00000548814;ENST00000544364	T;T	0.53640	0.61;0.61	5.39	5.39	0.77823	NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.77961	0.4209	M	0.93594	3.435	0.80722	D	1	P;D	0.89917	0.939;1.0	P;D	0.80764	0.461;0.994	T	0.83306	-0.0025	10	0.66056	D	0.02	-7.034	19.531	0.95230	0.0:1.0:0.0:0.0	.	160;183	F8W1L5;P21695	.;GPDA_HUMAN	I	183;183;160;3	ENSP00000301149:T183I;ENSP00000446768:T160I	ENSP00000301149:T183I	T	+	2	0	GPD1	48786903	1.000000	0.71417	0.999000	0.59377	0.898000	0.52572	7.818000	0.86416	2.704000	0.92352	0.561000	0.74099	ACA	GPD1	-	pirsf_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk	ENSG00000167588		0.527	GPD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPD1	HGNC	protein_coding	OTTHUMT00000406018.1	193	0.00	0	C			50500636	50500636	+1	no_errors	ENST00000301149	ensembl	human	known	69_37n	missense	29	63.29	50	SNP	1.000	T
H6PD	9563	genome.wustl.edu	37	1	9305183	9305183	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr1:9305183G>T	ENST00000377403.2	+	2	492	c.190G>T	c.(190-192)Gga>Tga	p.G64*	H6PD_ENST00000602477.1_Nonsense_Mutation_p.G75*	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	64	Glucose 1-dehydrogenase.				pentose-phosphate shunt (GO:0006098)|response to alcohol (GO:0097305)	endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)	6-phosphogluconolactonase activity (GO:0017057)|carbohydrate binding (GO:0030246)|glucose 1-dehydrogenase [NAD(P)] activity (GO:0047936)|glucose-6-phosphate dehydrogenase activity (GO:0004345)|NADP binding (GO:0050661)			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|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;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)		TAGCTTCCATGGAGCTGCTCT	0.587																																						dbGAP											0													69.0	66.0	67.0					1																	9305183		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AJ012590	CCDS101.1, CCDS72697.1	1p36	2008-02-05	2003-10-10		ENSG00000049239	ENSG00000049239	1.1.1.47		4795	protein-coding gene	gene with protein product		138090	"""glucose dehyrogenase"""	GDH		10349511	Standard	NM_001282587		Approved		uc001apt.3	O95479	OTTHUMG00000001768	ENST00000377403.2:c.190G>T	1.37:g.9305183G>T	ENSP00000366620:p.Gly64*		Q4TT33|Q66I35|Q68DT3	Nonsense_Mutation	SNP	pfam_G6P_DH_C,pfam_G6P_DH_NAD-bd,prints_G6P_DH,tigrfam_6-phosphogluconolactonase_DevB	p.G64*	ENST00000377403.2	37	c.190	CCDS101.1	1	.	.	.	.	.	.	.	.	.	.	G	39	7.428260	0.98279	.	.	ENSG00000049239	ENST00000377403	.	.	.	5.31	5.31	0.75309	.	0.054358	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-43.898	18.3309	0.90268	0.0:0.0:1.0:0.0	.	.	.	.	X	64	.	ENSP00000366620:G64X	G	+	1	0	H6PD	9227770	1.000000	0.71417	0.991000	0.47740	0.930000	0.56654	8.933000	0.92911	2.641000	0.89580	0.591000	0.81541	GGA	H6PD	-	pfam_G6P_DH_NAD-bd	ENSG00000049239		0.587	H6PD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H6PD	HGNC	protein_coding	OTTHUMT00000004928.2	106	0.00	0	G	NM_004285		9305183	9305183	+1	no_errors	ENST00000377403	ensembl	human	known	69_37n	nonsense	19	64.15	34	SNP	1.000	T
HAS1	3036	genome.wustl.edu	37	19	52217059	52217059	+	Missense_Mutation	SNP	C	C	T	rs201116150	byFrequency	TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr19:52217059C>T	ENST00000222115.1	-	5	1392	c.1358G>A	c.(1357-1359)cGg>cAg	p.R453Q	HAS1_ENST00000540069.2_Missense_Mutation_p.R452Q|HAS1_ENST00000601714.1_Missense_Mutation_p.R460Q	NM_001523.2	NP_001514.2	Q92839	HYAS1_HUMAN	hyaluronan synthase 1	453					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|extracellular matrix assembly (GO:0085029)|extracellular polysaccharide biosynthetic process (GO:0045226)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|hyaluronan biosynthetic process (GO:0030213)|hyaluronan metabolic process (GO:0030212)|negative regulation of fibroblast migration (GO:0010764)|small molecule metabolic process (GO:0044281)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hyaluronan synthase activity (GO:0050501)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CAGGCAGCCCCGCAGCCAGGC	0.677													c|||	2	0.000399361	0.0	0.0	5008	,	,		15105	0.002		0.0	False		,,,				2504	0.0				NSCLC(132;636 2450 45807 47979)	dbGAP											0																																										-	-	-	SO:0001583	missense	0			U59269	CCDS12838.1, CCDS74436.1	19q13.3-q13.4	2013-02-22			ENSG00000105509	ENSG00000105509	2.4.1.212	"""Glycosyltransferase family 2 domain containing"""	4818	protein-coding gene	gene with protein product		601463		HAS		9169154	Standard	XM_005258834		Approved		uc002pxo.1	Q92839		ENST00000222115.1:c.1358G>A	19.37:g.52217059C>T	ENSP00000222115:p.Arg453Gln		Q14470|Q9NS49	Missense_Mutation	SNP	pfam_Chitin_synth_fng,pfam_Glyco_trans_2	p.R453Q	ENST00000222115.1	37	c.1358	CCDS12838.1	19	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	c	18.40	3.614906	0.66672	.	.	ENSG00000105509	ENST00000540069;ENST00000222115	T;T	0.35236	1.32;1.32	3.22	3.22	0.36961	.	0.067486	0.64402	U	0.000011	T	0.49643	0.1569	M	0.62088	1.915	0.58432	D	0.999995	D;D;D	0.71674	0.998;0.992;0.997	P;P;P	0.59115	0.852;0.722;0.842	T	0.53143	-0.8480	10	0.52906	T	0.07	-22.7272	12.2907	0.54817	0.0:1.0:0.0:0.0	.	452;453;452	G3V1S7;Q92839;Q8IYH3	.;HAS1_HUMAN;.	Q	452;453	ENSP00000445021:R452Q;ENSP00000222115:R453Q	ENSP00000222115:R453Q	R	-	2	0	HAS1	56908871	1.000000	0.71417	0.975000	0.42487	0.239000	0.25481	7.400000	0.79949	1.816000	0.52996	0.174000	0.16983	CGG	HAS1	-	NULL	ENSG00000105509		0.677	HAS1-005	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	HAS1	HGNC	protein_coding	OTTHUMT00000466953.1	75	0.00	0	C	NM_001523		52217059	52217059	-1	no_errors	ENST00000222115	ensembl	human	known	69_37n	missense	4	42.86	3	SNP	0.996	T
HECW2	57520	genome.wustl.edu	37	2	197092973	197092973	+	Missense_Mutation	SNP	T	T	C			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr2:197092973T>C	ENST00000260983.3	-	22	3952	c.3770A>G	c.(3769-3771)gAt>gGt	p.D1257G	HECW2_ENST00000409111.1_Missense_Mutation_p.D901G	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2	1257	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CCCACTGTAATCCAGCCTGTA	0.368																																						dbGAP											0													56.0	58.0	57.0					2																	197092973		2202	4300	6502	-	-	-	SO:0001583	missense	0			AL390186	CCDS33354.1	2q32.3	2004-12-13			ENSG00000138411	ENSG00000138411			29853	protein-coding gene	gene with protein product						10718198, 12890487	Standard	NM_020760		Approved	KIAA1301, NEDL2	uc002utm.1	Q9P2P5	OTTHUMG00000154435	ENST00000260983.3:c.3770A>G	2.37:g.197092973T>C	ENSP00000260983:p.Asp1257Gly		B8ZZB4|Q17RT5|Q68DF8|Q9NPS9	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.D1257G	ENST00000260983.3	37	c.3770	CCDS33354.1	2	.	.	.	.	.	.	.	.	.	.	T	24.0	4.477037	0.84640	.	.	ENSG00000138411	ENST00000409111;ENST00000260983	T;T	0.61274	0.12;0.12	5.44	5.44	0.79542	HECT (3);	0.000000	0.85682	D	0.000000	T	0.76314	0.3970	M	0.78456	2.415	0.80722	D	1	D	0.61697	0.99	D	0.74023	0.982	T	0.79743	-0.1675	10	0.87932	D	0	.	15.6649	0.77221	0.0:0.0:0.0:1.0	.	1257	Q9P2P5	HECW2_HUMAN	G	901;1257	ENSP00000386775:D901G;ENSP00000260983:D1257G	ENSP00000260983:D1257G	D	-	2	0	HECW2	196801218	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.868000	0.87116	2.281000	0.76405	0.533000	0.62120	GAT	HECW2	-	smart_HECT,pfscan_HECT	ENSG00000138411		0.368	HECW2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECW2	HGNC	protein_coding	OTTHUMT00000335199.3	194	0.00	0	T	NM_020760		197092973	197092973	-1	no_errors	ENST00000260983	ensembl	human	known	69_37n	missense	189	11.21	24	SNP	1.000	C
HDAC4	9759	genome.wustl.edu	37	2	240033318	240033318	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr2:240033318C>A	ENST00000345617.3	-	14	2658	c.1867G>T	c.(1867-1869)Ggc>Tgc	p.G623C	HDAC4_ENST00000541256.1_Missense_Mutation_p.G597C|HDAC4_ENST00000543185.1_Missense_Mutation_p.G207C	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	623					B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|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 cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GGCCTGTGGCCGCCGAAGGAC	0.682																																						dbGAP											0													17.0	17.0	17.0					2																	240033318		2193	4283	6476	-	-	-	SO:0001583	missense	0			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.1867G>T	2.37:g.240033318C>A	ENSP00000264606:p.Gly623Cys		Q9UND6	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.G623C	ENST00000345617.3	37	c.1867	CCDS2529.1	2	.	.	.	.	.	.	.	.	.	.	C	13.93	2.384152	0.42308	.	.	ENSG00000068024	ENST00000345617;ENST00000456922;ENST00000543185;ENST00000541256;ENST00000393621	T;T;T	0.66280	0.21;-0.2;1.32	4.14	-2.18	0.07037	.	0.297011	0.36101	N	0.002800	T	0.65176	0.2666	L	0.55481	1.735	0.43130	D	0.994861	P;D;D;D;D;D	0.61080	0.861;0.977;0.957;0.977;0.989;0.981	P;P;P;P;P;P	0.59221	0.582;0.838;0.838;0.631;0.854;0.796	T	0.64664	-0.6354	10	0.56958	D	0.05	.	10.1248	0.42643	0.0:0.633:0.0:0.367	.	623;506;597;597;591;623	B7Z8G5;F5H0Q9;F5H5W4;B7Z8I2;Q53SM2;P56524	.;.;.;.;.;HDAC4_HUMAN	C	623;511;207;597;506	ENSP00000264606:G623C;ENSP00000440481:G207C;ENSP00000443057:G597C	ENSP00000264606:G623C	G	-	1	0	HDAC4	239698255	0.715000	0.27946	0.433000	0.26760	0.339000	0.28857	1.664000	0.37439	-0.420000	0.07427	-1.316000	0.01300	GGC	HDAC4	-	pirsf_Histone_deAcase_II_euk	ENSG00000068024		0.682	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC4	HGNC	protein_coding	OTTHUMT00000257174.2	11	0.00	0	C	NM_006037		240033318	240033318	-1	no_errors	ENST00000345617	ensembl	human	known	69_37n	missense	1	80.00	4	SNP	0.827	A
HMGCS2	3158	genome.wustl.edu	37	1	120311433	120311433	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr1:120311433A>G	ENST00000369406.3	-	1	84	c.35T>C	c.(34-36)cTg>cCg	p.L12P	HMGCS2_ENST00000544913.2_Missense_Mutation_p.L12P	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	12					cellular ketone body metabolic process (GO:0046950)|cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|ketone body biosynthetic process (GO:0046951)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	hydroxymethylglutaryl-CoA synthase activity (GO:0004421)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TGTCAGTTGCAGAATGCGCTT	0.537																																						dbGAP											0													86.0	74.0	78.0					1																	120311433		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC044217	CCDS905.1, CCDS53353.1	1p13-p12	2014-09-17	2010-04-30		ENSG00000134240	ENSG00000134240			5008	protein-coding gene	gene with protein product		600234	"""3-hydroxy-3-methylglutaryl-Coenzyme A synthase 2 (mitochondrial)"""			7851882, 7893153	Standard	NM_005518		Approved		uc001eid.3	P54868	OTTHUMG00000012101	ENST00000369406.3:c.35T>C	1.37:g.120311433A>G	ENSP00000358414:p.Leu12Pro		B7Z8R3|D3Y5K6|Q5SZU2|Q6IBF4	Missense_Mutation	SNP	pfam_HMG_CoA_synt_C,pfam_HMG_CoA_synth_N,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk	p.L12P	ENST00000369406.3	37	c.35	CCDS905.1	1	.	.	.	.	.	.	.	.	.	.	A	12.81	2.048314	0.36181	.	.	ENSG00000134240	ENST00000369406;ENST00000544913	D;D	0.91792	-2.91;-2.81	4.32	4.32	0.51571	.	0.465346	0.18133	N	0.150664	D	0.84790	0.5550	N	0.24115	0.695	0.20074	N	0.999936	P;P	0.46395	0.799;0.877	B;P	0.50791	0.328;0.65	T	0.79588	-0.1741	10	0.87932	D	0	-16.6066	10.3975	0.44209	1.0:0.0:0.0:0.0	.	12;12	B7Z8R3;P54868	.;HMCS2_HUMAN	P	12	ENSP00000358414:L12P;ENSP00000439495:L12P	ENSP00000358414:L12P	L	-	2	0	HMGCS2	120112956	0.123000	0.22298	0.004000	0.12327	0.006000	0.05464	2.500000	0.45381	1.881000	0.54492	0.402000	0.26972	CTG	HMGCS2	-	NULL	ENSG00000134240		0.537	HMGCS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGCS2	HGNC	protein_coding	OTTHUMT00000033469.2	201	0.00	0	A	NM_005518		120311433	120311433	-1	no_errors	ENST00000369406	ensembl	human	known	69_37n	missense	45	50.00	45	SNP	0.015	G
HMCN1	83872	genome.wustl.edu	37	1	186057340	186057340	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr1:186057340C>T	ENST00000271588.4	+	62	9738	c.9509C>T	c.(9508-9510)aCa>aTa	p.T3170I	HMCN1_ENST00000367492.2_Missense_Mutation_p.T3170I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3170	Ig-like C2-type 30.				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						AATCCTGTGACATTAACATGT	0.433																																						dbGAP											0													99.0	88.0	92.0					1																	186057340		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.9509C>T	1.37:g.186057340C>T	ENSP00000271588:p.Thr3170Ile		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_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.T3170I	ENST00000271588.4	37	c.9509	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.344326	0.41498	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.68025	-0.3;-0.3	5.63	3.76	0.43208	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.206931	0.49916	D	0.000134	T	0.63873	0.2548	L	0.53780	1.695	0.38924	D	0.957796	P	0.42556	0.783	B	0.42959	0.403	T	0.61377	-0.7075	10	0.35671	T	0.21	.	13.2589	0.60095	0.0:0.8066:0.0:0.1934	.	3170	Q96RW7	HMCN1_HUMAN	I	3170	ENSP00000271588:T3170I;ENSP00000356462:T3170I	ENSP00000271588:T3170I	T	+	2	0	HMCN1	184323963	0.952000	0.32445	0.398000	0.26321	0.700000	0.40528	2.150000	0.42254	0.333000	0.23563	-1.119000	0.02030	ACA	HMCN1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000143341		0.433	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	142	0.00	0	C	NM_031935		186057340	186057340	+1	no_errors	ENST00000271588	ensembl	human	known	69_37n	missense	82	32.79	40	SNP	0.889	T
HPN	3249	genome.wustl.edu	37	19	35540279	35540280	+	Frame_Shift_Ins	INS	-	-	A			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr19:35540279_35540280insA	ENST00000262626.2	+	3	927_928	c.102_103insA	c.(103-105)gcafs	p.A35fs	HPN_ENST00000597419.1_Intron|HPN_ENST00000392226.1_Frame_Shift_Ins_p.A35fs	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	35					basement membrane disassembly (GO:0034769)|cholesterol homeostasis (GO:0042632)|cochlea morphogenesis (GO:0090103)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|epithelium development (GO:0060429)|negative regulation of alkaline phosphatase activity (GO:0010693)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|pilomotor reflex (GO:0097195)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of cell growth (GO:0030307)|positive regulation of gene expression (GO:0010628)|positive regulation of hepatocyte proliferation (GO:2000347)|positive regulation of plasminogen activation (GO:0010756)|positive regulation of thyroid hormone generation (GO:2000611)|potassium ion transmembrane transport (GO:0071805)|proteolysis (GO:0006508)|regulation of cell shape (GO:0008360)|response to thyroid hormone (GO:0097066)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calcium-activated potassium channel activity (GO:0015269)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CCATCGGGGCGGCATCCTGGGC	0.658																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS32993.1	19q13.12	2013-04-25	2008-12-08		ENSG00000105707	ENSG00000105707		"""Serine peptidases / Transmembrane"""	5155	protein-coding gene	gene with protein product	"""transmembrane protease, serine 1"""	142440				2835076	Standard	NM_182983		Approved	TMPRSS1	uc002nxq.2	P05981	OTTHUMG00000182474	Exception_encountered	19.37:g.35540279_35540280insA	ENSP00000262626:p.Ala35fs		B2RDS4	Frame_Shift_Ins	INS	pfam_Peptidase_S1_S6,pfam_Hepsin-SRCR,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.A34fs	ENST00000262626.2	37	c.102_103	CCDS32993.1	19																																																																																			HPN	-	NULL	ENSG00000105707		0.658	HPN-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HPN	HGNC	protein_coding	OTTHUMT00000461573.1	152	0.00	0	-	NM_002151		35540279	35540280	+1	no_errors	ENST00000262626	ensembl	human	known	69_37n	frame_shift_ins	60	11.76	8	INS	0.042:0.169	A
HUWE1	10075	genome.wustl.edu	37	X	53563526	53563526	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chrX:53563526C>G	ENST00000342160.3	-	78	12697	c.12240G>C	c.(12238-12240)ttG>ttC	p.L4080F	HUWE1_ENST00000262854.6_Missense_Mutation_p.L4080F			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4080	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGGTACGGAACAAGGCATACA	0.493																																						dbGAP											0													189.0	153.0	165.0					X																	53563526		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.12240G>C	X.37:g.53563526C>G	ENSP00000340648:p.Leu4080Phe		O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.L4080F	ENST00000342160.3	37	c.12240	CCDS35301.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.99|13.99	2.401488|2.401488	0.42613|0.42613	.|.	.|.	ENSG00000086758|ENSG00000086758	ENST00000342160;ENST00000262854|ENST00000427052;ENST00000426907	T;T|.	0.64991|.	-0.13;-0.13|.	5.5|5.5	5.5|5.5	0.81552|0.81552	HECT (4);|.	0.000000|.	0.64402|.	D|.	0.000003|.	D|D	0.84428|0.84428	0.5470|0.5470	M|M	0.89840|0.89840	3.065|3.065	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.997;0.998|.	D|D	0.87233|0.87233	0.2261|0.2261	10|5	0.87932|.	D|.	0|.	.|.	17.3423|17.3423	0.87301|0.87301	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	4080;4064|.	Q7Z6Z7;Q7Z6Z7-2|.	HUWE1_HUMAN;.|.	F|L	4080|3114;903	ENSP00000340648:L4080F;ENSP00000262854:L4080F|.	ENSP00000262854:L4080F|.	L|V	-|-	3|1	2|0	HUWE1|HUWE1	53580251|53580251	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	5.449000|5.449000	0.66619|0.66619	2.450000|2.450000	0.82876|0.82876	0.594000|0.594000	0.82650|0.82650	TTG|GTT	HUWE1	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000086758		0.493	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	239	0.00	0	C	XM_497119		53563526	53563526	-1	no_errors	ENST00000262854	ensembl	human	known	69_37n	missense	180	28.46	72	SNP	1.000	G
ITLN1	55600	genome.wustl.edu	37	1	160851091	160851091	+	Silent	SNP	G	G	A			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr1:160851091G>A	ENST00000326245.3	-	5	532	c.417C>T	c.(415-417)taC>taT	p.Y139Y	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	139	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				positive regulation of glucose import (GO:0046326)|positive regulation of protein phosphorylation (GO:0001934)|response to nematode (GO:0009624)	anchored component of membrane (GO:0031225)|brush border membrane (GO:0031526)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|receptor complex (GO:0043235)	carbohydrate binding (GO:0030246)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GGATGTCGTAGTAGCCAGGGT	0.587																																						dbGAP											0													116.0	97.0	103.0					1																	160851091		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB036706	CCDS1211.1	1q21.3	2008-02-05			ENSG00000179914	ENSG00000179914			18259	protein-coding gene	gene with protein product		609873				11313366, 11181563	Standard	NM_017625		Approved	ITLN, FLJ20022, LFR, HL-1, hIntL	uc001fxc.3	Q8WWA0	OTTHUMG00000028604	ENST00000326245.3:c.417C>T	1.37:g.160851091G>A			Q5IWS4|Q5VYI4|Q6YDJ3|Q9NP67	Silent	SNP	superfamily_Fibrinogen_a/b/g_C	p.Y139	ENST00000326245.3	37	c.417	CCDS1211.1	1																																																																																			ITLN1	-	superfamily_Fibrinogen_a/b/g_C	ENSG00000179914		0.587	ITLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITLN1	HGNC	protein_coding	OTTHUMT00000071462.1	176	0.00	0	G	NM_017625		160851091	160851091	-1	no_errors	ENST00000326245	ensembl	human	known	69_37n	silent	103	26.24	37	SNP	1.000	A
KCNA6	3742	genome.wustl.edu	37	12	4920089	4920089	+	Silent	SNP	C	C	T			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr12:4920089C>T	ENST00000280684.3	+	1	1748	c.882C>T	c.(880-882)aaC>aaT	p.N294N	KCNA6_ENST00000433855.1_Silent_p.N294N|RP11-234B24.4_ENST00000542988.1_lincRNA			P17658	KCNA6_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 6	294					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49					Dalfampridine(DB06637)	TCTTCCGGAACATCATGAACA	0.567										HNSCC(72;0.22)																												dbGAP											0													96.0	86.0	90.0					12																	4920089		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			X17622	CCDS8534.1	12p13	2014-06-12						"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6225	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 96"""	176257				16382104	Standard	NM_002235		Approved	Kv1.6, HBK2, PPP1R96	uc001qng.3	P17658		ENST00000280684.3:c.882C>T	12.37:g.4920089C>T				Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv	p.N294	ENST00000280684.3	37	c.882	CCDS8534.1	12																																																																																			KCNA6	-	pfam_Ion_trans_dom,prints_K_chnl	ENSG00000151079		0.567	KCNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNA6	HGNC	protein_coding	OTTHUMT00000398909.1	72	0.00	0	C	NM_002235		4920089	4920089	+1	no_errors	ENST00000280684	ensembl	human	known	69_37n	silent	64	46.22	55	SNP	1.000	T
KCNJ12	3768	genome.wustl.edu	37	17	21319369	21319369	+	Missense_Mutation	SNP	G	G	A	rs77048459	byFrequency	TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr17:21319369G>A	ENST00000583088.1	+	3	1610	c.715G>A	c.(715-717)Gag>Aag	p.E239K	KCNJ12_ENST00000331718.5_Missense_Mutation_p.E239K	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	239				E -> K (in Ref. 2; AAC50615). {ECO:0000305}.	muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	GCGGGTCACCGAGGAGGGCGA	0.617										Prostate(3;0.18)																												dbGAP											0													104.0	78.0	87.0					17																	21319369		2203	4300	6503	-	-	-	SO:0001583	missense	0			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.715G>A	17.37:g.21319369G>A	ENSP00000463778:p.Glu239Lys		O43401|Q15756|Q8NG63	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir_Cr2,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir2.2	p.E239K	ENST00000583088.1	37	c.715	CCDS11219.1	17	.	.	.	.	.	.	.	.	.	.	G	10.49	1.365207	0.24684	.	.	ENSG00000184185	ENST00000331718	D	0.93426	-3.22	5.32	4.34	0.51931	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.166245	0.52532	D	0.000067	D	0.84620	0.5512	N	0.16130	0.375	0.48135	D	0.999596	P	0.37708	0.606	B	0.35655	0.207	T	0.83156	-0.0101	10	0.02654	T	1	.	15.9443	0.79782	0.0:0.1354:0.8646:0.0	.	239	Q14500	IRK12_HUMAN	K	239	ENSP00000328150:E239K	ENSP00000328150:E239K	E	+	1	0	KCNJ12	21259962	1.000000	0.71417	0.858000	0.33744	0.959000	0.62525	4.708000	0.61859	1.219000	0.43474	0.655000	0.94253	GAG	KCNJ12	-	pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2	ENSG00000184185		0.617	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ12	HGNC	protein_coding	OTTHUMT00000255060.2	36	0.00	0	G	NM_021012		21319369	21319369	+1	no_errors	ENST00000331718	ensembl	human	known	69_37n	missense	39	22.00	11	SNP	0.996	A
KIF21B	23046	genome.wustl.edu	37	1	200957999	200957999	+	Missense_Mutation	SNP	T	T	A			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr1:200957999T>A	ENST00000422435.2	-	22	3509	c.3193A>T	c.(3193-3195)Acg>Tcg	p.T1065S	KIF21B_ENST00000360529.5_Missense_Mutation_p.T1065S|KIF21B_ENST00000332129.2_Missense_Mutation_p.T1065S|KIF21B_ENST00000461742.2_Missense_Mutation_p.T1065S	NM_001252100.1	NP_001239029.1	O75037	KI21B_HUMAN	kinesin family member 21B	1065					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GCCATATCCGTCTGCCTCAGT	0.622																																						dbGAP											0													31.0	30.0	31.0					1																	200957999		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC031927	CCDS30965.1, CCDS58054.1, CCDS58055.1, CCDS58056.1	1q32.1	2013-01-10			ENSG00000116852	ENSG00000116852		"""Kinesins"", ""WD repeat domain containing"""	29442	protein-coding gene	gene with protein product		608322				9455484	Standard	NM_001252100		Approved	DKFZP434J212, KIAA0449	uc001gvs.2	O75037	OTTHUMG00000035787	ENST00000422435.2:c.3193A>T	1.37:g.200957999T>A	ENSP00000411831:p.Thr1065Ser		B2RP62|B7ZMI0|Q5T4J3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom	p.T1065S	ENST00000422435.2	37	c.3193	CCDS58056.1	1	.	.	.	.	.	.	.	.	.	.	T	27.7	4.859510	0.91433	.	.	ENSG00000116852	ENST00000332129;ENST00000360529;ENST00000461742;ENST00000422435;ENST00000539858	T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1	4.67	4.67	0.58626	Prefoldin (1);	0.058221	0.64402	N	0.000002	T	0.80380	0.4612	M	0.64170	1.965	0.54753	D	0.999985	P;P;P;D	0.53619	0.935;0.935;0.935;0.961	B;B;B;P	0.49597	0.411;0.411;0.411;0.616	T	0.82629	-0.0363	10	0.56958	D	0.05	.	14.4047	0.67073	0.0:0.0:0.0:1.0	.	1065;1065;1065;1065	B7ZMI0;B2RP62;O75037;O75037-2	.;.;KI21B_HUMAN;.	S	1065	ENSP00000328494:T1065S;ENSP00000353724:T1065S;ENSP00000433808:T1065S;ENSP00000411831:T1065S	ENSP00000328494:T1065S	T	-	1	0	KIF21B	199224622	1.000000	0.71417	0.970000	0.41538	0.825000	0.46686	4.195000	0.58400	1.868000	0.54150	0.402000	0.26972	ACG	KIF21B	-	superfamily_Prefoldin	ENSG00000116852		0.622	KIF21B-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF21B	HGNC	protein_coding	OTTHUMT00000382635.1	38	0.00	0	T	XM_371332		200957999	200957999	-1	no_errors	ENST00000422435	ensembl	human	known	69_37n	missense	12	40.00	8	SNP	1.000	A
KLHL4	56062	genome.wustl.edu	37	X	86880629	86880629	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chrX:86880629C>A	ENST00000373119.4	+	6	1302	c.1157C>A	c.(1156-1158)aCc>aAc	p.T386N	KLHL4_ENST00000373114.4_Missense_Mutation_p.T386N	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	386						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GATCTTGAAACCAGTTCCATG	0.388																																						dbGAP											0													91.0	78.0	82.0					X																	86880629		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.1157C>A	X.37:g.86880629C>A	ENSP00000362211:p.Thr386Asn		B2RTW2|Q9Y3J5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.T386N	ENST00000373119.4	37	c.1157	CCDS14457.1	X	.	.	.	.	.	.	.	.	.	.	C	0.310	-0.968265	0.02232	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.73681	-0.77;-0.73	4.89	3.73	0.42828	.	0.279004	0.39341	N	0.001397	T	0.44201	0.1282	N	0.02842	-0.48	0.27107	N	0.962488	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.32798	-0.9893	10	0.02654	T	1	.	10.3313	0.43825	0.8295:0.1705:0.0:0.0	.	386;386	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	N	386	ENSP00000362211:T386N;ENSP00000362206:T386N	ENSP00000362206:T386N	T	+	2	0	KLHL4	86767285	1.000000	0.71417	0.989000	0.46669	0.842000	0.47809	4.616000	0.61197	0.639000	0.30564	-0.490000	0.04691	ACC	KLHL4	-	NULL	ENSG00000102271		0.388	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL4	HGNC	protein_coding	OTTHUMT00000057413.1	74	0.00	0	C			86880629	86880629	+1	no_errors	ENST00000373114	ensembl	human	known	69_37n	missense	88	38.62	56	SNP	1.000	A
LAMA1	284217	genome.wustl.edu	37	18	6997880	6997880	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr18:6997880C>G	ENST00000389658.3	-	33	4760	c.4667G>C	c.(4666-4668)tGt>tCt	p.C1556S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1556	Domain II and I.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CTCATCATCACAGGCTACAAG	0.418																																						dbGAP											0													167.0	154.0	159.0					18																	6997880		2203	4300	6503	-	-	-	SO:0001583	missense	0			X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.4667G>C	18.37:g.6997880C>G	ENSP00000374309:p.Cys1556Ser			Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.C1556S	ENST00000389658.3	37	c.4667	CCDS32787.1	18	.	.	.	.	.	.	.	.	.	.	C	15.01	2.706314	0.48412	.	.	ENSG00000101680	ENST00000389658	T	0.56776	0.44	5.36	5.36	0.76844	EGF-like, laminin (1);	0.000000	0.85682	D	0.000000	D	0.84325	0.5447	H	0.98407	4.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.90363	0.4375	10	0.87932	D	0	.	19.4416	0.94823	0.0:1.0:0.0:0.0	.	1556	P25391	LAMA1_HUMAN	S	1556	ENSP00000374309:C1556S	ENSP00000374309:C1556S	C	-	2	0	LAMA1	6987880	1.000000	0.71417	0.985000	0.45067	0.005000	0.04900	6.051000	0.71072	2.675000	0.91044	0.655000	0.94253	TGT	LAMA1	-	pfam_EGF_laminin	ENSG00000101680		0.418	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA1	HGNC	protein_coding	OTTHUMT00000257369.1	93	0.00	0	C	NM_005559		6997880	6997880	-1	no_errors	ENST00000389658	ensembl	human	known	69_37n	missense	229	34.38	120	SNP	1.000	G
LCN15	389812	genome.wustl.edu	37	9	139651510	139651510	+	IGR	SNP	G	G	C	rs149903464		TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr9:139651510G>C	ENST00000316144.5	-	0	762				LCN15_ENST00000482511.1_5'Flank|LCN8_ENST00000371688.3_Silent_p.T45T|LCN8_ENST00000482893.1_5'UTR	NM_203347.1	NP_976222.1	Q6UWW0	LCN15_HUMAN	lipocalin 15						lipid metabolic process (GO:0006629)	extracellular region (GO:0005576)	small molecule binding (GO:0036094)|transporter activity (GO:0005215)			endometrium(1)|lung(1)	2						CAACCTTCACGGTCAGGTTAC	0.632																																						dbGAP											0													51.0	44.0	47.0					9																	139651510		2203	4300	6503	-	-	-	SO:0001628	intergenic_variant	0				CCDS7006.1	9q34.3	2011-10-24			ENSG00000177984	ENSG00000177984		"""Lipocalins"""	33777	protein-coding gene	gene with protein product							Standard	NM_203347		Approved	UNQ2541, PRO6093	uc004cjd.3	Q6UWW0	OTTHUMG00000020943		9.37:g.139651510G>C				Silent	SNP	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like	p.T45	ENST00000316144.5	37	c.135	CCDS7006.1	9																																																																																			LCN8	-	pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like	ENSG00000204001		0.632	LCN15-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LCN8	HGNC	protein_coding	OTTHUMT00000055114.2	17	0.00	0	G	NM_203347		139651510	139651510	-1	no_errors	ENST00000371688	ensembl	human	known	69_37n	silent	30	31.11	14	SNP	0.028	C
LRRC34	151827	genome.wustl.edu	37	3	169514046	169514046	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr3:169514046G>C	ENST00000316515.7	-	8	1161	c.885C>G	c.(883-885)aaC>aaG	p.N295K	LRRC34_ENST00000522830.1_Missense_Mutation_p.N279K|RP11-362K14.6_ENST00000602835.1_RNA|RP11-362K14.7_ENST00000602913.1_RNA|LRRC34_ENST00000524327.1_5'UTR|LRRC34_ENST00000522526.2_Missense_Mutation_p.N308K|LRRC34_ENST00000446859.1_Missense_Mutation_p.N340K	NM_153353.4	NP_699184.2	Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34	295										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			CACTGAGATAGTTTGCGCCTG	0.333																																						dbGAP											0													120.0	117.0	118.0					3																	169514046		2202	4300	6502	-	-	-	SO:0001583	missense	0			AK095125	CCDS3208.1, CCDS3208.2, CCDS54672.1	3q26.2	2014-03-18			ENSG00000171757	ENSG00000171757			28408	protein-coding gene	gene with protein product						12477932	Standard	NM_153353		Approved	MGC27085	uc003ffy.3	Q8IZ02	OTTHUMG00000164419	ENST00000316515.7:c.885C>G	3.37:g.169514046G>C	ENSP00000326150:p.Asn295Lys		B4DEJ7|E9PBH2|G5E9T7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.N340K	ENST00000316515.7	37	c.1020		3	.	.	.	.	.	.	.	.	.	.	G	0.677	-0.799542	0.02841	.	.	ENSG00000171757	ENST00000446859;ENST00000316515;ENST00000522830;ENST00000522526	T;T;T;T	0.50001	0.76;0.76;0.76;0.76	5.47	-6.95	0.01628	.	0.692724	0.15596	N	0.254174	T	0.12263	0.0298	N	0.00493	-1.44	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.0;0.0;0.001;0.0	B;B;B;B;B	0.06405	0.002;0.001;0.001;0.002;0.002	T	0.39440	-0.9614	10	0.21014	T	0.42	0.0532	11.6904	0.51512	0.263:0.5063:0.2307:0.0	.	327;279;279;340;295	B4DHF2;B3KT77;G3V115;G5E9T7;Q8IZ02	.;.;.;.;LRC34_HUMAN	K	340;295;279;308	ENSP00000414635:N340K;ENSP00000326150:N295K;ENSP00000429593:N279K;ENSP00000429278:N308K	ENSP00000326150:N295K	N	-	3	2	LRRC34	170996740	0.001000	0.12720	0.604000	0.28916	0.798000	0.45092	-0.850000	0.04317	-0.973000	0.03555	0.585000	0.79938	AAC	LRRC34	-	smart_Leu-rich_rpt_RNase_inh_sub-typ	ENSG00000171757		0.333	LRRC34-201	KNOWN	basic	protein_coding	LRRC34	HGNC	protein_coding		285	0.35	1	G	NM_153353		169514046	169514046	-1	no_errors	ENST00000446859	ensembl	human	known	69_37n	missense	194	43.44	149	SNP	0.007	C
LRRC37A	9884	genome.wustl.edu	37	17	44408126	44408126	+	Silent	SNP	G	G	A			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr17:44408126G>A	ENST00000320254.5	+	9	3486	c.3483G>A	c.(3481-3483)cgG>cgA	p.R1161R	LRRC37A_ENST00000393465.3_Silent_p.R1161R|ARL17B_ENST00000575698.1_Intron|LRRC37A_ENST00000496930.1_Silent_p.R199R|ARL17B_ENST00000575960.1_Intron|ARL17B_ENST00000570618.1_Intron|ARL17B_ENST00000434041.2_Intron	NM_014834.4	NP_055649.4	A6NMS7	L37A1_HUMAN	leucine rich repeat containing 37A	1161						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|pancreas(6)|prostate(1)|skin(1)	11		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		GCCAAAACCGGCAGAGAGTGA	0.507																																						dbGAP											0													10.0	9.0	10.0					17																	44408126		1335	1346	2681	-	-	-	SO:0001819	synonymous_variant	0			BC040501	CCDS11504.2	17q21.31	2014-04-01			ENSG00000176681	ENSG00000176681			29069	protein-coding gene	gene with protein product						9628581, 15533724	Standard	NM_014834		Approved	KIAA0563	uc031rbr.1	A6NMS7	OTTHUMG00000149841	ENST00000320254.5:c.3483G>A	17.37:g.44408126G>A			Q68DY2|Q8IWC7	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.R1161	ENST00000320254.5	37	c.3483	CCDS11504.2	17																																																																																			LRRC37A	-	NULL	ENSG00000176681		0.507	LRRC37A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRRC37A	HGNC	protein_coding	OTTHUMT00000313519.3	24	0.00	0	G	NM_014834		44408126	44408126	+1	no_errors	ENST00000320254	ensembl	human	known	69_37n	silent	5	64.29	9	SNP	0.000	A
LUZP2	338645	genome.wustl.edu	37	11	24750742	24750742	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr11:24750742G>T	ENST00000336930.6	+	2	156	c.90G>T	c.(88-90)caG>caT	p.Q30H	LUZP2_ENST00000533227.1_5'UTR|LUZP2_ENST00000531187.1_3'UTR			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	30						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TAGAAAAGCAGCTGAAAGAAG	0.433																																						dbGAP											0													68.0	70.0	69.0					11																	24750742		2203	4298	6501	-	-	-	SO:0001583	missense	0			AL832641	CCDS31446.1, CCDS58128.1	11p14.3	2005-09-18			ENSG00000187398	ENSG00000187398			23206	protein-coding gene	gene with protein product		608178				12856284	Standard	NM_001009909		Approved		uc001mqs.3	Q86TE4	OTTHUMG00000166109	ENST00000336930.6:c.90G>T	11.37:g.24750742G>T	ENSP00000336817:p.Gln30His		A2RUB8|E9PN53|Q6UXE7|Q6ZS65	Missense_Mutation	SNP	NULL	p.Q30H	ENST00000336930.6	37	c.90	CCDS31446.1	11	.	.	.	.	.	.	.	.	.	.	G	18.04	3.534949	0.64972	.	.	ENSG00000187398	ENST00000336930;ENST00000529015	T;T	0.25250	1.81;1.81	5.99	1.4	0.22301	.	0.117853	0.56097	D	0.000025	T	0.40473	0.1118	L	0.54323	1.7	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.18241	-1.0343	10	0.72032	D	0.01	-10.8817	9.8871	0.41268	0.3559:0.0:0.6441:0.0	.	30	Q86TE4	LUZP2_HUMAN	H	30	ENSP00000336817:Q30H;ENSP00000437032:Q30H	ENSP00000336817:Q30H	Q	+	3	2	LUZP2	24707318	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.137000	0.31479	0.387000	0.25024	0.655000	0.94253	CAG	LUZP2	-	NULL	ENSG00000187398		0.433	LUZP2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LUZP2	HGNC	protein_coding	OTTHUMT00000387861.1	109	0.00	0	G	NM_001009909		24750742	24750742	+1	no_errors	ENST00000336930	ensembl	human	known	69_37n	missense	23	42.50	17	SNP	1.000	T
LYG2	254773	genome.wustl.edu	37	2	99860525	99860525	+	Missense_Mutation	SNP	T	T	A			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr2:99860525T>A	ENST00000409238.1	-	4	477	c.457A>T	c.(457-459)Aca>Tca	p.T153S	LYG2_ENST00000423800.1_Missense_Mutation_p.T153S|LYG2_ENST00000409679.1_Missense_Mutation_p.T153S|LYG2_ENST00000333017.2_Missense_Mutation_p.T153S			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	153					cell wall macromolecule catabolic process (GO:0016998)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)	lysozyme activity (GO:0003796)			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						ATTCTCTCTGTTAGAATCCCA	0.423																																						dbGAP											0													109.0	104.0	106.0					2																	99860525		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF323919	CCDS2042.1	2q11.2	2008-02-05			ENSG00000185674	ENSG00000185674			29615	protein-coding gene	gene with protein product						8889548, 12574869	Standard	NM_175735		Approved	LYGH	uc002szw.1	Q86SG7	OTTHUMG00000130643	ENST00000409238.1:c.457A>T	2.37:g.99860525T>A	ENSP00000386939:p.Thr153Ser		Q496G2|Q53RW0	Missense_Mutation	SNP	pfam_Lytic_TGlycosylase-like_cat,superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23	p.T153S	ENST00000409238.1	37	c.457	CCDS2042.1	2	.	.	.	.	.	.	.	.	.	.	T	10.24	1.296578	0.23650	.	.	ENSG00000185674	ENST00000409238;ENST00000333017;ENST00000409679;ENST00000423306	.	.	.	5.58	-3.06	0.05379	Lytic transglycosylase-like, catalytic (1);Lysozyme-like domain (1);	0.436965	0.21575	N	0.072360	T	0.40171	0.1106	M	0.64997	1.995	0.09310	N	1	B;B;B	0.34181	0.073;0.144;0.44	B;B;B	0.35182	0.069;0.136;0.197	T	0.35126	-0.9801	8	.	.	.	-19.265	11.4169	0.49958	0.0:0.5798:0.0:0.4202	.	153;153;153	Q496G2;C9J4J0;Q86SG7	.;.;LYG2_HUMAN	S	153	.	.	T	-	1	0	LYG2	99226957	0.000000	0.05858	0.166000	0.22797	0.069000	0.16628	-1.761000	0.01805	-0.574000	0.05990	0.454000	0.30748	ACA	LYG2	-	pfam_Lytic_TGlycosylase-like_cat,superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23	ENSG00000185674		0.423	LYG2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LYG2	HGNC	protein_coding	OTTHUMT00000330307.1	348	0.00	0	T	NM_175735		99860525	99860525	-1	no_errors	ENST00000333017	ensembl	human	known	69_37n	missense	142	44.09	112	SNP	0.067	A
MAGEB3	4114	genome.wustl.edu	37	X	30254047	30254047	+	Silent	SNP	T	T	C			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chrX:30254047T>C	ENST00000361644.2	+	5	743	c.6T>C	c.(4-6)ccT>ccC	p.P2P		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	2										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						CCATCATGCCTCGGGGTCAGA	0.567																																						dbGAP											0													53.0	44.0	47.0					X																	30254047		2202	4300	6502	-	-	-	SO:0001819	synonymous_variant	0			AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 5"""	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.6T>C	X.37:g.30254047T>C			A0AVE4|B3KQ52|O75861	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.P2	ENST00000361644.2	37	c.6	CCDS14220.1	X																																																																																			MAGEB3	-	NULL	ENSG00000198798		0.567	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB3	HGNC	protein_coding	OTTHUMT00000056158.2	76	0.00	0	T	NM_002365		30254047	30254047	+1	no_errors	ENST00000361644	ensembl	human	known	69_37n	silent	21	64.41	38	SNP	0.664	C
MATN2	4147	genome.wustl.edu	37	8	98943194	98943194	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr8:98943194G>T	ENST00000520016.1	+	2	280	c.156G>T	c.(154-156)gaG>gaT	p.E52D	MATN2_ENST00000254898.5_Missense_Mutation_p.E52D|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000524308.1_Missense_Mutation_p.E52D|MATN2_ENST00000521689.1_Missense_Mutation_p.E52D			O00339	MATN2_HUMAN	matrilin 2	52						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			GTTCCTGTGAGAACAAGCGGG	0.507																																						dbGAP											0													48.0	45.0	46.0					8																	98943194		1949	4158	6107	-	-	-	SO:0001583	missense	0			U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.156G>T	8.37:g.98943194G>T	ENSP00000430487:p.Glu52Asp		A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	pfam_VWF_A,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_VWF_A	p.E52D	ENST00000520016.1	37	c.156	CCDS55264.1	8	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308387	0.40895	.	.	ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000520016	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18	5.64	0.135	0.14775	.	0.415237	0.22974	N	0.053383	T	0.59473	0.2196	L	0.31926	0.97	0.24944	N	0.991837	B;B;B	0.11235	0.002;0.004;0.001	B;B;B	0.11329	0.006;0.003;0.002	T	0.42816	-0.9429	10	0.36615	T	0.2	-18.3858	2.7148	0.05184	0.2285:0.2989:0.368:0.1046	.	52;52;52	O00339-2;O00339;Q8N2G3	.;MATN2_HUMAN;.	D	52	ENSP00000429977:E52D;ENSP00000254898:E52D;ENSP00000430221:E52D;ENSP00000430487:E52D	ENSP00000254898:E52D	E	+	3	2	MATN2	99012370	0.852000	0.29690	0.998000	0.56505	0.962000	0.63368	0.423000	0.21313	0.332000	0.23536	0.591000	0.81541	GAG	MATN2	-	NULL	ENSG00000132561		0.507	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	MATN2	HGNC	protein_coding	OTTHUMT00000380332.1	70	0.00	0	G			98943194	98943194	+1	no_errors	ENST00000254898	ensembl	human	known	69_37n	missense	85	21.30	23	SNP	0.981	T
MED12	9968	genome.wustl.edu	37	X	70361814	70361814	+	Splice_Site	SNP	A	A	G			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chrX:70361814A>G	ENST00000374080.3	+	44	6522	c.6490A>G	c.(6490-6492)Aat>Gat	p.N2164D	MED12_ENST00000333646.6_Splice_Site_p.N2167D|MED12_ENST00000374102.1_Splice_Site_p.N2163D|NLGN3_ENST00000536169.1_5'Flank|NLGN3_ENST00000358741.3_5'Flank|AL590764.1_ENST00000579622.1_RNA|NLGN3_ENST00000374051.3_5'Flank			Q93074	MED12_HUMAN	mediator complex subunit 12	2164	Gln-rich.				androgen receptor signaling pathway (GO:0030521)|axis elongation involved in somitogenesis (GO:0090245)|canonical Wnt signaling pathway (GO:0060070)|gene expression (GO:0010467)|heart development (GO:0007507)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|negative regulation of Wnt signaling pathway (GO:0030178)|neural tube closure (GO:0001843)|oligodendrocyte development (GO:0014003)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|Schwann cell development (GO:0014044)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|receptor activity (GO:0004872)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					ACAGCTCTCTAGTAAGCCTGC	0.547			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome																															dbGAP		Dom	yes		X	Xq13	9968	mediator complex subunit 12	Yes	M	0													52.0	51.0	52.0					X																	70361814		1969	4159	6128	-	-	-	SO:0001630	splice_region_variant	0			U80742	CCDS43970.1	Xq13	2011-02-14	2007-07-30	2004-11-26	ENSG00000184634	ENSG00000184634			11957	protein-coding gene	gene with protein product		300188	"""trinucleotide repeat containing 11 (THR-associated protein, 230kDa subunit)"", ""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)"", ""FG syndrome 1"""	TNRC11, FGS1		9225980, 10198638, 17334363, 20507344	Standard	NM_005120		Approved	CAGH45, HOPA, OPA1, TRAP230, KIAA0192, OKS	uc004dyy.3	Q93074	OTTHUMG00000021788	ENST00000374080.3:c.6490+1A>G	X.37:g.70361814A>G			O15410|O75557|Q9UHV6|Q9UND7	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12	p.N2167D	ENST00000374080.3	37	c.6499	CCDS43970.1	X	.	.	.	.	.	.	.	.	.	.	A	17.14	3.314222	0.60414	.	.	ENSG00000184634	ENST00000333646;ENST00000374102;ENST00000374080;ENST00000430072;ENST00000439750	T;T;T;T;T	0.46451	0.87;1.0;1.0;1.0;3.72	5.15	5.15	0.70609	.	0.252018	0.38897	N	0.001533	T	0.26955	0.0660	N	0.14661	0.345	0.49130	D	0.999757	B;P;B	0.35872	0.39;0.525;0.39	B;B;B	0.32980	0.074;0.156;0.074	T	0.11916	-1.0568	10	0.45353	T	0.12	-14.3758	13.791	0.63140	1.0:0.0:0.0:0.0	.	2014;2163;2164	Q7Z3Z5;Q93074-3;Q93074	.;.;MED12_HUMAN	D	2167;2163;2164;2114;912	ENSP00000333125:N2167D;ENSP00000363215:N2163D;ENSP00000363193:N2164D;ENSP00000414203:N2114D;ENSP00000408388:N912D	ENSP00000333125:N2167D	N	+	1	0	MED12	70278539	1.000000	0.71417	1.000000	0.80357	0.789000	0.44602	6.305000	0.72805	1.911000	0.55334	0.486000	0.48141	AAT	MED12	-	NULL	ENSG00000184634		0.547	MED12-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	MED12	HGNC	protein_coding	OTTHUMT00000057105.1	206	0.00	0	A	NM_005120	Missense_Mutation	70361814	70361814	+1	no_errors	ENST00000333646	ensembl	human	known	69_37n	missense	97	32.64	47	SNP	1.000	G
MEIS2	4212	genome.wustl.edu	37	15	37186920	37186920	+	Intron	SNP	C	C	G			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr15:37186920C>G	ENST00000561208.1	-	11	1566				MEIS2_ENST00000559408.1_5'Flank|MEIS2_ENST00000340545.5_3'UTR|MEIS2_ENST00000338564.5_Intron|MEIS2_ENST00000424352.2_3'UTR|MEIS2_ENST00000444725.1_3'UTR|MEIS2_ENST00000397620.2_3'UTR|MEIS2_ENST00000219869.9_3'UTR|MEIS2_ENST00000557796.2_3'UTR|MEIS2_ENST00000382766.2_Intron|MEIS2_ENST00000397624.3_3'UTR|MEIS2_ENST00000559085.1_3'UTR			O14770	MEIS2_HUMAN	Meis homeobox 2						eye development (GO:0001654)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		GTACTTACTTCCCCCTTGCTT	0.408																																						dbGAP											0													167.0	152.0	157.0					15																	37186920		1933	4137	6070	-	-	-	SO:0001627	intron_variant	0			AF017418	CCDS10044.1, CCDS10045.1, CCDS42014.1, CCDS45217.1, CCDS45218.1, CCDS45219.1, CCDS45220.1	15q14	2011-06-20	2007-02-15		ENSG00000134138	ENSG00000134138		"""Homeoboxes / TALE class"""	7001	protein-coding gene	gene with protein product		601740	"""Meis (mouse) homolog 2"", ""Meis1, myeloid ecotropic viral integration site 1 homolog 2 (mouse)"""			9383298	Standard	NM_172315		Approved	MRG1, HsT18361	uc001zjr.4	O14770	OTTHUMG00000129781	ENST00000561208.1:c.1147+431G>C	15.37:g.37186920C>G			A6NJI5|A8MWD5|B3KP98|B3KPQ6|Q96DI2|Q96KI4|Q96KI5|Q9NRS1|Q9NRS2|Q9NRS3	RNA	SNP	-	NULL	ENST00000561208.1	37	NULL	CCDS10044.1	15																																																																																			MEIS2	-	-	ENSG00000134138		0.408	MEIS2-001	KNOWN	basic|CCDS	protein_coding	MEIS2	HGNC	protein_coding	OTTHUMT00000252003.2	176	0.00	0	C	NM_170677		37186920	37186920	-1	no_errors	ENST00000558643	ensembl	human	known	69_37n	rna	96	61.90	156	SNP	1.000	G
MT3	4504	genome.wustl.edu	37	16	56623468	56623468	+	5'UTR	SNP	C	C	A			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr16:56623468C>A	ENST00000200691.4	+	0	189				MT3_ENST00000570176.1_5'UTR|MT3_ENST00000561640.1_Missense_Mutation_p.A34D|MT3_ENST00000566576.1_3'UTR|MT3_ENST00000565838.1_Intron	NM_005954.2	NP_005945.1	P25713	MT3_HUMAN	metallothionein 3						activation of protein kinase B activity (GO:0032148)|astrocyte development (GO:0014002)|cadmium ion homeostasis (GO:0055073)|cell proliferation (GO:0008283)|cellular lipid catabolic process (GO:0044242)|cellular metal ion homeostasis (GO:0006875)|cellular response to cadmium ion (GO:0071276)|cellular response to drug (GO:0035690)|cellular response to hypoxia (GO:0071456)|cellular response to nitric oxide (GO:0071732)|cellular response to oxidative stress (GO:0034599)|cellular zinc ion homeostasis (GO:0006882)|cholesterol catabolic process (GO:0006707)|energy reserve metabolic process (GO:0006112)|ERK1 and ERK2 cascade (GO:0070371)|histone modification (GO:0016570)|leptin-mediated signaling pathway (GO:0033210)|negative regulation of apoptotic process (GO:0043066)|negative regulation of autophagy (GO:0010507)|negative regulation of axon extension (GO:0030517)|negative regulation of cell growth (GO:0030308)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of necrotic cell death (GO:0060547)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of lysosomal membrane permeability (GO:0097214)|positive regulation of necrotic cell death (GO:0010940)|positive regulation of oxygen metabolic process (GO:2000376)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein import into nucleus, translocation (GO:0000060)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of protein glycosylation (GO:0060049)|regulation of response to food (GO:0032095)|removal of superoxide radicals (GO:0019430)|response to hypoxia (GO:0001666)|zinc ion homeostasis (GO:0055069)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|inclusion body (GO:0016234)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	antioxidant activity (GO:0016209)|cadmium ion binding (GO:0046870)|copper ion binding (GO:0005507)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|drug binding (GO:0008144)|protein kinase activator activity (GO:0030295)|zinc ion binding (GO:0008270)			central_nervous_system(1)|large_intestine(1)	2						CTTGGAGAAGCCCGTTCACCG	0.692																																						dbGAP											0													52.0	49.0	50.0					16																	56623468		2198	4300	6498	-	-	-	SO:0001623	5_prime_UTR_variant	0			BC035624	CCDS10762.1	16q13	2008-02-05	2007-01-26		ENSG00000087250	ENSG00000087250		"""Metallothioneins"""	7408	protein-coding gene	gene with protein product		139255	"""metallothionein 3 (growth inhibitory factor (neurotrophic))"""			1631128	Standard	NM_005954		Approved	GIF	uc002ejf.3	P25713	OTTHUMG00000133282	ENST00000200691.4:c.-35C>A	16.37:g.56623468C>A			Q2V574	Missense_Mutation	SNP	pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert	p.A34D	ENST00000200691.4	37	c.101	CCDS10762.1	16																																																																																			MT3	-	NULL	ENSG00000087250		0.692	MT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MT3	HGNC	protein_coding	OTTHUMT00000257062.2	51	0.00	0	C	NM_005954		56623468	56623468	+1	no_errors	ENST00000561640	ensembl	human	putative	69_37n	missense	8	63.64	14	SNP	0.100	A
MTRF1L	54516	genome.wustl.edu	37	6	153310937	153310937	+	3'UTR	DEL	A	A	-	rs368338572	byFrequency	TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr6:153310937delA	ENST00000367233.5	-	0	1235				MTRF1L_ENST00000464135.1_5'UTR|RP1-101K10.6_ENST00000442269.1_RNA|MTRF1L_ENST00000367230.1_3'UTR|MTRF1L_ENST00000367231.5_3'UTR	NM_019041.5	NP_061914.3	Q9UGC7	RF1ML_HUMAN	mitochondrial translational release factor 1-like							mitochondrion (GO:0005739)	translation release factor activity, codon specific (GO:0016149)			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	10		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.24e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0888)		GTGTTAACTCAACGTTTTTCA	0.313													A|AA|A|insertion	116	0.0231629	0.0212	0.036	5008	,	,		16324	0.0139		0.0129	False		,,,				2504	0.0368					dbGAP											0																																										-	-	-	SO:0001624	3_prime_UTR_variant	0			BC011873	CCDS5243.1, CCDS47502.1, CCDS75540.1	6q25-q26	2008-02-05			ENSG00000112031	ENSG00000112031			21051	protein-coding gene	gene with protein product		613542					Standard	NM_019041		Approved		uc003qpi.4	Q9UGC7	OTTHUMG00000015857	ENST00000367233.5:c.*93T>-	6.37:g.153310937delA			B3KTA0|Q3KR06|Q5TF44|Q5TF50|Q96CC5|Q96EX4|Q96K40	RNA	DEL	-	NULL	ENST00000367233.5	37	NULL	CCDS5243.1	6																																																																																			MTRF1L	-	-	ENSG00000112031		0.313	MTRF1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MTRF1L	HGNC	protein_coding	OTTHUMT00000042764.1	17	0.00	0	A	NM_019041		153310937	153310937	-1	no_errors	ENST00000461949	ensembl	human	known	69_37n	rna	7	42.86	6	DEL	0.168	-
MYO18B	84700	genome.wustl.edu	37	22	26224905	26224905	+	Silent	SNP	C	C	T			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr22:26224905C>T	ENST00000407587.2	+	15	3118	c.2949C>T	c.(2947-2949)acC>acT	p.T983T	MYO18B_ENST00000335473.7_Silent_p.T983T|MYO18B_ENST00000536101.1_Silent_p.T983T			Q8IUG5	MY18B_HUMAN	myosin XVIIIB	983	Myosin motor.					cytoplasm (GO:0005737)|nucleus (GO:0005634)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						ACCAGCGGACCTTTGTCTCCA	0.612																																						dbGAP											0													59.0	65.0	63.0					22																	26224905		2061	4202	6263	-	-	-	SO:0001819	synonymous_variant	0			AJ310931	CCDS54507.1	22q12.1	2011-09-27			ENSG00000133454	ENSG00000133454		"""Myosins / Myosin superfamily : Class XVIII"""	18150	protein-coding gene	gene with protein product		607295				12209013, 12547197	Standard	NM_032608		Approved	BK125H2.1	uc003abz.1	Q8IUG5	OTTHUMG00000151129	ENST00000407587.2:c.2949C>T	22.37:g.26224905C>T			B2RWP3|F5GYU7|Q8NDI8|Q8TE65|Q8WWS0|Q96KH2|Q96KR8|Q96KR9	Silent	SNP	pfam_Myosin_head_motor_dom,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.T983	ENST00000407587.2	37	c.2949		22																																																																																			MYO18B	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom	ENSG00000133454		0.612	MYO18B-006	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|exp_conf	protein_coding	MYO18B	HGNC	protein_coding	OTTHUMT00000400691.1	149	0.00	0	C	NM_032608		26224905	26224905	+1	no_errors	ENST00000335473	ensembl	human	known	69_37n	silent	83	42.76	62	SNP	1.000	T
NCOR1	9611	genome.wustl.edu	37	17	15965075	15965075	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr17:15965075C>G	ENST00000268712.3	-	37	5778	c.5521G>C	c.(5521-5523)Gag>Cag	p.E1841Q	NCOR1_ENST00000395851.1_Missense_Mutation_p.E1857Q|NCOR1_ENST00000395857.3_Missense_Mutation_p.E425Q	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1841	Interaction with C1D. {ECO:0000250}.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGCTTACTCTCTTTTGTTTTG	0.527																																						dbGAP											0													74.0	75.0	75.0					17																	15965075		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.5521G>C	17.37:g.15965075C>G	ENSP00000268712:p.Glu1841Gln		B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.E1841Q	ENST00000268712.3	37	c.5521	CCDS11175.1	17	.	.	.	.	.	.	.	.	.	.	C	20.6	4.017320	0.75161	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849;ENST00000395857	T;T;T	0.52983	0.64;1.27;0.66	5.87	5.87	0.94306	.	0.133320	0.64402	D	0.000002	T	0.58380	0.2118	L	0.40543	1.245	0.58432	D	0.999995	P;D;P;P;D	0.60160	0.843;0.976;0.886;0.93;0.987	P;P;B;P;P	0.58660	0.469;0.744;0.398;0.603;0.843	T	0.56025	-0.8047	10	0.52906	T	0.07	-12.4132	19.1914	0.93667	0.0:1.0:0.0:0.0	.	651;1745;1841;1857;361	B4DZ48;E7EVK1;O75376;O75376-2;Q86YY1	.;.;NCOR1_HUMAN;.;.	Q	1841;1857;1745;425	ENSP00000268712:E1841Q;ENSP00000379192:E1857Q;ENSP00000379198:E425Q	ENSP00000268712:E1841Q	E	-	1	0	NCOR1	15905800	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.231000	0.78106	2.785000	0.95823	0.650000	0.86243	GAG	NCOR1	-	NULL	ENSG00000141027		0.527	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	66	0.00	0	C	NM_006311		15965075	15965075	-1	no_errors	ENST00000268712	ensembl	human	known	69_37n	missense	16	36.00	9	SNP	1.000	G
NUP98	4928	genome.wustl.edu	37	11	3752646	3752646	+	Silent	SNP	G	G	A			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr11:3752646G>A	ENST00000324932.7	-	14	2125	c.1705C>T	c.(1705-1707)Cta>Tta	p.L569L	NUP98_ENST00000397007.4_Silent_p.L586L|NUP98_ENST00000397004.4_Silent_p.L569L|NUP98_ENST00000355260.3_Silent_p.L569L|NUP98_ENST00000359171.4_Silent_p.L569L	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	586					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|DNA replication (GO:0006260)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nuclear pore organization (GO:0006999)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear envelope (GO:0005635)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nuclear pore outer ring (GO:0031080)|nucleoplasm (GO:0005654)	peptide binding (GO:0042277)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CCATTGGCTAGGGATGGTTCA	0.403			T	"""HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"""	AML																																	dbGAP		Dom	yes		11	11p15	4928	nucleoporin 98kDa		L	0													120.0	116.0	117.0					11																	3752646		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0			AF071076, AF231130, BC012906, BG773331	CCDS7746.1, CCDS31347.1, CCDS41605.1, CCDS41606.1	11p15	2008-02-26	2002-08-29		ENSG00000110713	ENSG00000110713			8068	protein-coding gene	gene with protein product		601021	"""nucleoporin 98kD"""			9166830	Standard	NM_139131		Approved	NUP96	uc001lyh.3	P52948	OTTHUMG00000011846	ENST00000324932.7:c.1705C>T	11.37:g.3752646G>A			Q8IUT2|Q8WYB0|Q96E54|Q9H3Q4|Q9NT02|Q9UF57|Q9UHX0|Q9Y6J4|Q9Y6J5	Missense_Mutation	SNP	NULL	p.P188L	ENST00000324932.7	37	c.563	CCDS7746.1	11	.	.	.	.	.	.	.	.	.	.	G	9.812	1.183360	0.21870	.	.	ENSG00000110713	ENST00000527104	.	.	.	5.54	4.58	0.56647	.	.	.	.	.	T	0.58538	0.2129	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.55945	-0.8060	4	.	.	.	.	7.8641	0.29526	0.1393:0.0:0.8607:0.0	.	.	.	.	L	188	.	.	P	-	2	0	NUP98	3709222	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.912000	0.48782	1.177000	0.42855	0.467000	0.42956	CCT	NUP98	-	NULL	ENSG00000110713		0.403	NUP98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP98	HGNC	protein_coding	OTTHUMT00000032766.3	364	0.27	1	G	NM_016320		3752646	3752646	-1	no_start_codon:pseudogene:no_stop_codon	ENST00000527104	ensembl	human	novel	69_37n	missense	200	11.45	26	SNP	1.000	A
OAS1	4938	genome.wustl.edu	37	12	113355524	113355524	+	Intron	SNP	T	T	C			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr12:113355524T>C	ENST00000202917.5	+	5	1301				RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000445409.2_Intron|OAS1_ENST00000452357.2_Missense_Mutation_p.S353P|OAS1_ENST00000551241.1_Intron	NM_016816.2	NP_058132.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa						cellular response to interferon-alpha (GO:0035457)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of viral genome replication (GO:0045071)|protein oligomerization (GO:0051259)|purine nucleotide biosynthetic process (GO:0006164)|regulation of ribonuclease activity (GO:0060700)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						TCCTGCTTCCTCCCTGCCATT	0.507																																						dbGAP											0													105.0	111.0	109.0					12																	113355524		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			X04371	CCDS31905.1, CCDS41838.1, CCDS44980.1	12q24.2	2014-05-21	2011-07-21				2.7.7.-		8086	protein-coding gene	gene with protein product		164350	"""2',5'-oligoadenylate synthetase 1 (40-46 kD)"""	OIAS		9344649, 9325053	Standard	XM_006719434		Approved	OIASI, IFI-4	uc001tud.3	P00973		ENST00000202917.5:c.1038+19T>C	12.37:g.113355524T>C			A8K4N8|P04820|P29080|P29081|P78485|P78486|Q16700|Q16701|Q1PG42|Q3ZM01|Q53GC5|Q53YA4|Q6A1Z3|Q6IPC6|Q6P7N9|Q96J61	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.S353P	ENST00000202917.5	37	c.1057	CCDS41838.1	12	.	.	.	.	.	.	.	.	.	.	T	6.417	0.445007	0.12164	.	.	ENSG00000089127	ENST00000452357	T	0.07114	3.22	3.52	-1.95	0.07548	.	.	.	.	.	T	0.04452	0.0122	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.45644	-0.9247	7	.	.	.	.	7.3266	0.26560	0.0:0.4022:0.0:0.5978	.	353	P00973-2	.	P	353	ENSP00000415721:S353P	.	S	+	1	0	OAS1	111839907	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-0.202000	0.09451	-0.481000	0.06792	0.402000	0.26972	TCC	OAS1	-	NULL	ENSG00000089127		0.507	OAS1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	OAS1	HGNC	protein_coding	OTTHUMT00000405896.2	431	0.46	2	T			113355524	113355524	+1	no_errors	ENST00000452357	ensembl	human	known	69_37n	missense	209	12.92	31	SNP	0.000	C
OPA1	4976	genome.wustl.edu	37	3	193361877	193361877	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr3:193361877G>T	ENST00000392438.3	+	14	1660	c.1426G>T	c.(1426-1428)Gta>Tta	p.V476L	OPA1_ENST00000361150.2_Missense_Mutation_p.V477L|OPA1_ENST00000361510.2_Missense_Mutation_p.V531L|OPA1_ENST00000361715.2_Missense_Mutation_p.V495L|OPA1_ENST00000361828.2_Missense_Mutation_p.V494L|OPA1_ENST00000361908.3_Missense_Mutation_p.V513L	NM_015560.2	NP_056375.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	476	Dynamin-type G.				apoptotic process (GO:0006915)|axon transport of mitochondrion (GO:0019896)|cellular senescence (GO:0090398)|GTP catabolic process (GO:0006184)|inner mitochondrial membrane organization (GO:0007007)|mitochondrial fission (GO:0000266)|mitochondrial fusion (GO:0008053)|mitochondrion organization (GO:0007005)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|neural tube closure (GO:0001843)|visual perception (GO:0007601)	dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial crista (GO:0030061)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|magnesium ion binding (GO:0000287)			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AGAGAAAAATGTAGCCAGTCC	0.408																																						dbGAP											0													86.0	84.0	85.0					3																	193361877		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011139	CCDS33917.1, CCDS43186.1	3q29	2014-09-17			ENSG00000198836	ENSG00000198836			8140	protein-coding gene	gene with protein product	"""mitochondrial dynamin-like GTPase"", ""dynamin-like guanosine triphosphatase"", ""Dynamin-like 120 kDa protein, mitochondrial"""	605290				9490303	Standard	NM_015560		Approved	NTG, KIAA0567, FLJ12460, NPG, MGM1	uc003ftg.3	O60313	OTTHUMG00000149897	ENST00000392438.3:c.1426G>T	3.37:g.193361877G>T	ENSP00000376233:p.Val476Leu		D3DNW4	Missense_Mutation	SNP	pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin	p.V531L	ENST00000392438.3	37	c.1591	CCDS43186.1	3	.	.	.	.	.	.	.	.	.	.	G	8.982	0.975556	0.18736	.	.	ENSG00000198836	ENST00000361908;ENST00000392438;ENST00000361510;ENST00000361715;ENST00000361828;ENST00000361150	D;D;D;D;D;D	0.94417	-2.99;-3.01;-3.01;-3.0;-3.0;-3.42	5.7	5.7	0.88788	Dynamin, GTPase domain (1);	0.061993	0.64402	D	0.000003	T	0.81422	0.4819	N	0.00661	-1.28	0.58432	D	0.999993	B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.0;0.0;0.001;0.0	B;B;B;B;B;B;B;B	0.06405	0.001;0.001;0.0;0.001;0.001;0.0;0.002;0.001	T	0.79729	-0.1681	10	0.02654	T	1	-14.8589	18.8311	0.92139	0.0:0.0:1.0:0.0	.	440;476;458;477;494;513;495;531	E5KLK2;O60313;E5KLK0;E5KLK1;E5KLJ6;E5KLJ7;E5KLJ9;E5KLJ5	.;OPA1_HUMAN;.;.;.;.;.;.	L	513;476;531;495;494;477	ENSP00000354681:V513L;ENSP00000376233:V476L;ENSP00000355324:V531L;ENSP00000355311:V495L;ENSP00000354429:V494L;ENSP00000354781:V477L	ENSP00000354781:V477L	V	+	1	0	OPA1	194844571	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.957000	0.76019	2.679000	0.91253	0.655000	0.94253	GTA	OPA1	-	smart_Dynamin_GTPase	ENSG00000198836		0.408	OPA1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	OPA1	HGNC	protein_coding	OTTHUMT00000313812.2	213	0.00	0	G	NM_130837		193361877	193361877	+1	no_errors	ENST00000361510	ensembl	human	known	69_37n	missense	153	15.00	27	SNP	1.000	T
OR1S1	219959	genome.wustl.edu	37	11	57983026	57983026	+	Silent	SNP	C	C	T			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr11:57983026C>T	ENST00000309433.6	+	1	810	c.810C>T	c.(808-810)ggC>ggT	p.G270G		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				CCATTGTAGGCGTGTACTTTT	0.483																																						dbGAP											0													162.0	132.0	142.0					11																	57983026		2201	4295	6496	-	-	-	SO:0001819	synonymous_variant	0			BK004299	CCDS31546.1	11q12.1	2012-08-09			ENSG00000172774	ENSG00000172774		"""GPCR / Class A : Olfactory receptors"""	8227	protein-coding gene	gene with protein product							Standard	NM_001004458		Approved	OST034	uc010rkc.2	Q8NH92	OTTHUMG00000167463	ENST00000309433.6:c.810C>T	11.37:g.57983026C>T			Q6IFG3	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.G270	ENST00000309433.6	37	c.810	CCDS31546.1	11																																																																																			OR1S1	-	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam	ENSG00000172774		0.483	OR1S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1S1	HGNC	protein_coding	OTTHUMT00000394705.1	135	0.00	0	C	NM_001004458		57983026	57983026	+1	no_errors	ENST00000309433	ensembl	human	known	69_37n	silent	163	35.83	91	SNP	0.001	T
OSMR	9180	genome.wustl.edu	37	5	38884114	38884114	+	Missense_Mutation	SNP	A	A	G	rs114792297	byFrequency	TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr5:38884114A>G	ENST00000274276.3	+	5	1006	c.604A>G	c.(604-606)Agt>Ggt	p.S202G	OSMR_ENST00000502536.1_Missense_Mutation_p.S202G	NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	202					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	oncostatin-M receptor complex (GO:0005900)	growth factor binding (GO:0019838)|oncostatin-M receptor activity (GO:0004924)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CAACTTGAATAGTGTGCCTTT	0.373																																						dbGAP											0													160.0	149.0	153.0					5																	38884114		2203	4300	6503	-	-	-	SO:0001583	missense	0			U60805	CCDS3928.1, CCDS54847.1	5p13.2	2013-02-11			ENSG00000145623	ENSG00000145623		"""Fibronectin type III domain containing"""	8507	protein-coding gene	gene with protein product		601743				8999038	Standard	NM_001168355		Approved	OSMRB	uc003jln.2	Q99650	OTTHUMG00000090811	ENST00000274276.3:c.604A>G	5.37:g.38884114A>G	ENSP00000274276:p.Ser202Gly		Q6P4E8|Q96QJ6	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S202G	ENST00000274276.3	37	c.604	CCDS3928.1	5	.	.	.	.	.	.	.	.	.	.	A	11.54	1.669748	0.29693	.	.	ENSG00000145623	ENST00000502536;ENST00000274276	T;T	0.55234	0.53;1.06	5.41	2.93	0.34026	.	1.518970	0.03869	N	0.275298	T	0.43322	0.1242	N	0.22421	0.69	0.09310	N	1	B;B	0.21821	0.019;0.061	B;B	0.18871	0.01;0.023	T	0.38607	-0.9653	10	0.59425	D	0.04	.	9.7934	0.40720	0.6374:0.3626:0.0:0.0	.	202;202	Q99650;Q99650-2	OSMR_HUMAN;.	G	202	ENSP00000422023:S202G;ENSP00000274276:S202G	ENSP00000274276:S202G	S	+	1	0	OSMR	38919871	0.001000	0.12720	0.000000	0.03702	0.011000	0.07611	1.045000	0.30341	0.398000	0.25338	0.533000	0.62120	AGT	OSMR	-	NULL	ENSG00000145623		0.373	OSMR-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	OSMR	HGNC	protein_coding	OTTHUMT00000207609.2	202	0.00	0	A	NM_003999		38884114	38884114	+1	no_errors	ENST00000274276	ensembl	human	known	69_37n	missense	110	34.91	59	SNP	0.002	G
PC	5091	genome.wustl.edu	37	11	66638537	66638537	+	Missense_Mutation	SNP	C	C	G			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr11:66638537C>G	ENST00000393958.2	-	6	712	c.619G>C	c.(619-621)Gtg>Ctg	p.V207L	PC_ENST00000355677.3_Missense_Mutation_p.V207L|PC_ENST00000393960.1_Missense_Mutation_p.V207L|PC_ENST00000524491.1_Missense_Mutation_p.V167L|PC_ENST00000393955.2_Missense_Mutation_p.V207L	NM_000920.3	NP_000911.2	P11498	PYC_HUMAN	pyruvate carboxylase	207	ATP-grasp. {ECO:0000255|PROSITE- ProRule:PRU00409}.|Biotin carboxylation.				biotin metabolic process (GO:0006768)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|lipid metabolic process (GO:0006629)|oxaloacetate metabolic process (GO:0006107)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|biotin binding (GO:0009374)|biotin carboxylase activity (GO:0004075)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|pyruvate carboxylase activity (GO:0004736)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	TAGCTGTGCACCACCCTCATG	0.642																																						dbGAP											0													88.0	88.0	88.0					11																	66638537		2200	4295	6495	-	-	-	SO:0001583	missense	0			U04641	CCDS8152.1	11q13.4-q13.5	2012-07-11			ENSG00000173599	ENSG00000173599	6.4.1.1		8636	protein-coding gene	gene with protein product		608786				6548474	Standard	NM_022172		Approved	PCB	uc001ojn.1	P11498	OTTHUMG00000167099	ENST00000393958.2:c.619G>C	11.37:g.66638537C>G	ENSP00000377530:p.Val207Leu		B4DN00|Q16705	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Carboxylase_cons_dom,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_PYR_CT,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_PYR_CT,pfscan_Biotin_lipoyl,tigrfam_Pyruv_COase	p.V207L	ENST00000393958.2	37	c.619	CCDS8152.1	11	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740561	0.89573	.	.	ENSG00000173599	ENST00000393955;ENST00000393958;ENST00000393960;ENST00000524491;ENST00000355677	D;D;D;D;D	0.98164	-4.76;-4.76;-4.76;-4.76;-4.76	4.99	4.99	0.66335	ATP-grasp fold (1);ATP-grasp fold, subdomain 1 (1);Carbamoyl-phosphate synthetase, large subunit, ATP-binding (1);Biotin carboxylation domain (1);	0.000000	0.64402	D	0.000001	D	0.98887	0.9623	M	0.91920	3.255	0.80722	D	1	D	0.57899	0.981	P	0.57502	0.822	D	0.99632	1.0986	10	0.87932	D	0	-26.1511	15.7565	0.78030	0.0:1.0:0.0:0.0	.	207	P11498	PYC_HUMAN	L	207;207;207;167;207	ENSP00000377527:V207L;ENSP00000377530:V207L;ENSP00000377532:V207L;ENSP00000434192:V167L;ENSP00000347900:V207L	ENSP00000347900:V207L	V	-	1	0	PC	66395113	0.999000	0.42202	1.000000	0.80357	0.674000	0.39518	4.159000	0.58157	2.327000	0.79052	0.561000	0.74099	GTG	PC	-	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Dala_Dala_lig_C,pirsf_Pyruv_COase,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,tigrfam_Pyruv_COase	ENSG00000173599		0.642	PC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PC	HGNC	protein_coding	OTTHUMT00000393115.1	55	0.00	0	C	NM_001040716		66638537	66638537	-1	no_errors	ENST00000393958	ensembl	human	known	69_37n	missense	80	37.50	48	SNP	1.000	G
PDE3A	5139	genome.wustl.edu	37	12	20790155	20790155	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr12:20790155G>A	ENST00000359062.3	+	9	2163	c.2123G>A	c.(2122-2124)gGc>gAc	p.G708D	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	708					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	AGAAAATGTGGCCGTATTCTT	0.333																																						dbGAP											0													65.0	63.0	64.0					12																	20790155		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2123G>A	12.37:g.20790155G>A	ENSP00000351957:p.Gly708Asp		O60865|Q13348|Q17RD1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.G708D	ENST00000359062.3	37	c.2123	CCDS31754.1	12	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475037	0.84640	.	.	ENSG00000172572	ENST00000359062	T	0.76839	-1.05	4.64	4.64	0.57946	5&apos (1);-cyclic nucleotide phosphodiesterase, catalytic domain (1);3&apos (1);	0.111005	0.64402	D	0.000008	D	0.85465	0.5703	M	0.74467	2.265	0.80722	D	1	D	0.54772	0.968	P	0.56278	0.795	D	0.87750	0.2591	10	0.72032	D	0.01	.	17.6919	0.88270	0.0:0.0:1.0:0.0	.	708	Q14432	PDE3A_HUMAN	D	708	ENSP00000351957:G708D	ENSP00000351957:G708D	G	+	2	0	PDE3A	20681422	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.769000	0.91742	2.410000	0.81850	0.591000	0.81541	GGC	PDE3A	-	NULL	ENSG00000172572		0.333	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2	120	0.00	0	G			20790155	20790155	+1	no_errors	ENST00000359062	ensembl	human	known	69_37n	missense	200	20.32	51	SNP	1.000	A
PDZRN3	23024	genome.wustl.edu	37	3	73657824	73657824	+	Silent	SNP	G	G	T			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr3:73657824G>T	ENST00000263666.4	-	2	849	c.735C>A	c.(733-735)acC>acA	p.T245T	PDZRN3_ENST00000308537.4_Silent_p.T245T	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	245					neuromuscular junction development (GO:0007528)|protein ubiquitination (GO:0016567)	neuromuscular junction (GO:0031594)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCAGACTTTTGGTTTCTTCGC	0.423																																						dbGAP											0													48.0	52.0	50.0					3																	73657824		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB029018	CCDS33789.1	3p14.1	2013-01-09	2008-08-14		ENSG00000121440	ENSG00000121440		"""RING-type (C3HC4) zinc fingers"""	17704	protein-coding gene	gene with protein product	"""likely ortholog of mouse semaF cytoplasmic domain associated protein 3"""	609729				10470851	Standard	XM_005264718		Approved	KIAA1095, SEMACAP3, LNX3	uc003dpl.1	Q9UPQ7	OTTHUMG00000158865	ENST00000263666.4:c.735C>A	3.37:g.73657824G>T			A7MCZ6|Q8N2N7|Q96CC2|Q9NSQ2	Silent	SNP	pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF	p.T245	ENST00000263666.4	37	c.735	CCDS33789.1	3																																																																																			PDZRN3	-	superfamily_PDZ	ENSG00000121440		0.423	PDZRN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN3	HGNC	protein_coding	OTTHUMT00000352460.1	102	0.00	0	G	XM_041363		73657824	73657824	-1	no_errors	ENST00000263666	ensembl	human	known	69_37n	silent	35	56.25	45	SNP	0.999	T
PEX1	5189	genome.wustl.edu	37	7	92131275	92131275	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr7:92131275C>T	ENST00000248633.4	-	14	2440	c.2345G>A	c.(2344-2346)aGa>aAa	p.R782K	PEX1_ENST00000438045.1_Missense_Mutation_p.R460K|PEX1_ENST00000428214.1_Missense_Mutation_p.R725K|PEX1_ENST00000541751.1_Intron	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	782					ATP catabolic process (GO:0006200)|microtubule-based peroxisome localization (GO:0060152)|peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TGTAAAATCTCTAGCCACAAA	0.383																																						dbGAP											0													179.0	192.0	188.0					7																	92131275		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF026086	CCDS5627.1, CCDS64710.1	7q21.2	2010-04-21	2008-08-26		ENSG00000127980	ENSG00000127980		"""ATPases / AAA-type"""	8850	protein-coding gene	gene with protein product		602136	"""peroxisome biogenesis factor 1"", ""Zellweger syndrome 1"", ""Zellweger syndrome"""	ZWS1, ZWS		9398848	Standard	NM_001282677		Approved		uc003uly.3	O43933	OTTHUMG00000023926	ENST00000248633.4:c.2345G>A	7.37:g.92131275C>T	ENSP00000248633:p.Arg782Lys		A4D1G3|A8KA90|B4DIM7|E9PE75|Q96S71|Q96S72|Q96S73|Q99994	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_Peroxisome_synth_fac_1_a/b,pfam_PEX-1N,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase	p.R782K	ENST00000248633.4	37	c.2345	CCDS5627.1	7	.	.	.	.	.	.	.	.	.	.	C	14.36	2.513588	0.44763	.	.	ENSG00000127980	ENST00000438045;ENST00000248633;ENST00000428214	D;D;T	0.88046	-2.33;-2.33;1.69	5.15	5.15	0.70609	.	0.052738	0.85682	D	0.000000	D	0.86447	0.5935	M	0.66506	2.035	0.80722	D	1	B;P;B	0.36027	0.063;0.533;0.397	B;B;B	0.33890	0.064;0.172;0.132	D	0.86591	0.1860	10	0.48119	T	0.1	-23.3184	18.8109	0.92057	0.0:1.0:0.0:0.0	.	460;574;782	E9PE75;B4DER6;O43933	.;.;PEX1_HUMAN	K	460;782;725	ENSP00000410438:R460K;ENSP00000248633:R782K;ENSP00000394413:R725K	ENSP00000248633:R782K	R	-	2	0	PEX1	91969211	1.000000	0.71417	1.000000	0.80357	0.904000	0.53231	4.823000	0.62694	2.687000	0.91594	0.561000	0.74099	AGA	PEX1	-	NULL	ENSG00000127980		0.383	PEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PEX1	HGNC	protein_coding	OTTHUMT00000254066.3	283	0.35	1	C	NM_000466		92131275	92131275	-1	no_errors	ENST00000248633	ensembl	human	known	69_37n	missense	136	30.81	61	SNP	1.000	T
PKDREJ	10343	genome.wustl.edu	37	22	46654201	46654201	+	Silent	SNP	T	T	G			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr22:46654201T>G	ENST00000253255.5	-	1	5018	c.5019A>C	c.(5017-5019)atA>atC	p.I1673I		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1673					acrosome reaction (GO:0007340)|calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)|neuropeptide signaling pathway (GO:0007218)|regulation of acrosome reaction (GO:0060046)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TCTGGTCATGTATCCTCTGCA	0.413																																						dbGAP											0													199.0	165.0	177.0					22																	46654201		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF116458	CCDS14073.1	22q13.31	2013-07-31	2013-07-31		ENSG00000130943	ENSG00000130943			9015	protein-coding gene	gene with protein product		604670	"""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly, sea urchin homolog)-like"", ""polycystic kidney disease (polycystin) and REJ (sperm receptor for egg jelly homolog, sea urchin)-like"", ""polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin)"""			9949214, 10591208	Standard	NM_006071		Approved		uc003bhh.3	Q9NTG1	OTTHUMG00000150493	ENST00000253255.5:c.5019A>C	22.37:g.46654201T>G			B1AJY3|O95850	Silent	SNP	pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_LipOase_LH2,pfscan_LipOase_LH2,pfscan_REJ-like,prints_PKD_2	p.I1673	ENST00000253255.5	37	c.5019	CCDS14073.1	22																																																																																			PKDREJ	-	NULL	ENSG00000130943		0.413	PKDREJ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKDREJ	HGNC	protein_coding	OTTHUMT00000318466.1	119	0.00	0	T	NM_006071		46654201	46654201	-1	no_errors	ENST00000253255	ensembl	human	known	69_37n	silent	251	45.08	206	SNP	0.000	G
PPP2R1B	5519	genome.wustl.edu	37	11	111613318	111613318	+	Silent	SNP	T	T	C			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr11:111613318T>C	ENST00000527614.1	-	13	1691	c.1626A>G	c.(1624-1626)ggA>ggG	p.G542G	PPP2R1B_ENST00000427203.2_Silent_p.G381G|PPP2R1B_ENST00000311129.5_Silent_p.G542G|PPP2R1B_ENST00000426998.2_Silent_p.G478G|PPP2R1B_ENST00000393055.2_Silent_p.G415G|PPP2R1B_ENST00000341980.6_Silent_p.G497G	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	542					apoptotic process involved in morphogenesis (GO:0060561)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)	extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		CTACTTGGTCTCCTGCCATTT	0.378																																						dbGAP											0													92.0	85.0	87.0					11																	111613318		2201	4297	6498	-	-	-	SO:0001819	synonymous_variant	0			AF087438	CCDS8348.1, CCDS8349.1, CCDS53706.1, CCDS53707.1, CCDS53708.1	11q23.1	2010-06-18	2010-04-14		ENSG00000137713	ENSG00000137713	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9303	protein-coding gene	gene with protein product	"""PP2A-A-beta"", ""protein phosphatase 2A, regulatory subunit A, beta isoform"""	603113	"""protein phosphatase 2 (formerly 2A), regulatory subunit A (PR 65), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit A, beta isoform"""			2159327, 9795170	Standard	NM_181699		Approved	PR65B, PP2A-Abeta	uc001plw.1	P30154	OTTHUMG00000166741	ENST00000527614.1:c.1626A>G	11.37:g.111613318T>C			A8MY67|B0YJ69|B4DGQ6|B4DK91|B4DWW5|F8W8G1|O75620|Q8NHV8	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.R171G	ENST00000527614.1	37	c.511	CCDS8349.1	11	.	.	.	.	.	.	.	.	.	.	T	10.34	1.323780	0.24080	.	.	ENSG00000137713	ENST00000412902;ENST00000531890	.	.	.	5.47	3.17	0.36434	.	.	.	.	.	T	0.54711	0.1875	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.49000	-0.8984	4	.	.	.	-6.0096	6.2197	0.20675	0.0:0.2681:0.0:0.7318	.	.	.	.	G	415;171	.	.	R	-	1	2	PPP2R1B	111118528	0.981000	0.34729	1.000000	0.80357	0.996000	0.88848	0.083000	0.14871	0.909000	0.36697	0.454000	0.30748	AGA	PPP2R1B	-	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	ENSG00000137713		0.378	PPP2R1B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PPP2R1B	HGNC	protein_coding	OTTHUMT00000391298.1	282	0.35	1	T	NM_002716		111613318	111613318	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000531890	ensembl	human	novel	69_37n	missense	159	17.19	33	SNP	0.999	C
PREP	5550	genome.wustl.edu	37	6	105729625	105729625	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr6:105729625C>A	ENST00000369110.3	-	14	2026	c.1834G>T	c.(1834-1836)Gtc>Ttc	p.V612F	RP3-355L5.4_ENST00000452363.1_RNA	NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	612					proteolysis (GO:0006508)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	serine-type endopeptidase activity (GO:0004252)|serine-type exopeptidase activity (GO:0070008)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	CCTTACTTGACAAGCCATTCA	0.403																																						dbGAP											0													94.0	84.0	88.0					6																	105729625		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS5053.1	6q22	2008-02-05			ENSG00000085377	ENSG00000085377	3.4.21.26		9358	protein-coding gene	gene with protein product		600400				7959018	Standard	NM_002726		Approved		uc003prc.3	P48147	OTTHUMG00000015297	ENST00000369110.3:c.1834G>T	6.37:g.105729625C>A	ENSP00000358106:p.Val612Phe		Q8N6D4	Missense_Mutation	SNP	pfam_Peptidase_S9A_B_C_N,pfam_Peptidase_S9,superfamily_Peptidase_S9A_B_C_N,prints_Peptidase_S9A	p.V612F	ENST00000369110.3	37	c.1834	CCDS5053.1	6	.	.	.	.	.	.	.	.	.	.	C	12.47	1.948362	0.34377	.	.	ENSG00000085377	ENST00000369110	T	0.29397	1.57	4.9	-1.96	0.07525	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.537430	0.20954	N	0.082700	T	0.02342	0.0072	N	0.04508	-0.205	0.24037	N	0.996096	B	0.02656	0.0	B	0.04013	0.001	T	0.39354	-0.9618	10	0.15499	T	0.54	.	1.1756	0.01835	0.1422:0.2621:0.2025:0.3932	.	612	P48147	PPCE_HUMAN	F	612	ENSP00000358106:V612F	ENSP00000358106:V612F	V	-	1	0	PREP	105836318	0.533000	0.26354	0.860000	0.33809	0.986000	0.74619	0.947000	0.29082	-0.523000	0.06409	-0.334000	0.08254	GTC	PREP	-	pfam_Peptidase_S9,prints_Peptidase_S9A	ENSG00000085377		0.403	PREP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREP	HGNC	protein_coding	OTTHUMT00000041658.1	131	0.00	0	C			105729625	105729625	-1	no_errors	ENST00000369110	ensembl	human	known	69_37n	missense	82	18.81	19	SNP	0.820	A
PRKDC	5591	genome.wustl.edu	37	8	48792059	48792059	+	Missense_Mutation	SNP	A	A	T			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr8:48792059A>T	ENST00000314191.2	-	40	5281	c.5225T>A	c.(5224-5226)aTg>aAg	p.M1742K	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.M1742K	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1743					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	AACCTTTTTCATGCAGTCCAC	0.383								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)	dbGAP											0													36.0	34.0	34.0					8																	48792059		1841	4088	5929	-	-	-	SO:0001583	missense	0				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.5225T>A	8.37:g.48792059A>T	ENSP00000313420:p.Met1742Lys		P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.M1742K	ENST00000314191.2	37	c.5225		8	.	.	.	.	.	.	.	.	.	.	A	16.28	3.077661	0.55753	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.65732	-0.17;-0.17	5.87	4.72	0.59763	Armadillo-like helical (1);Armadillo-type fold (1);	0.161159	0.56097	D	0.000030	T	0.54498	0.1862	L	0.60455	1.87	0.33621	D	0.604839	P;P	0.36683	0.565;0.565	B;B	0.32980	0.156;0.156	T	0.70802	-0.4773	10	0.72032	D	0.01	.	9.2748	0.37692	0.8669:0.0:0.1331:0.0	.	1742;1743	E7EUY0;P78527	.;PRKDC_HUMAN	K	1742	ENSP00000313420:M1742K;ENSP00000345182:M1742K	ENSP00000313420:M1742K	M	-	2	0	PRKDC	48954612	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	3.899000	0.56288	2.240000	0.73641	0.477000	0.44152	ATG	PRKDC	-	superfamily_ARM-type_fold	ENSG00000253729		0.383	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		105	0.00	0	A	NM_001081640		48792059	48792059	-1	no_errors	ENST00000314191	ensembl	human	known	69_37n	missense	54	45.45	45	SNP	1.000	T
PTPRO	5800	genome.wustl.edu	37	12	15673165	15673165	+	Missense_Mutation	SNP	T	T	C			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr12:15673165T>C	ENST00000281171.4	+	10	2140	c.1810T>C	c.(1810-1812)Tac>Cac	p.Y604H	PTPRO_ENST00000348962.2_Missense_Mutation_p.Y604H	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	604	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AGCATGGTACTACAACTTCCG	0.463																																						dbGAP											0													133.0	124.0	127.0					12																	15673165		2203	4300	6503	-	-	-	SO:0001583	missense	0			U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.1810T>C	12.37:g.15673165T>C	ENSP00000281171:p.Tyr604His		A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.Y604H	ENST00000281171.4	37	c.1810	CCDS8675.1	12	.	.	.	.	.	.	.	.	.	.	T	22.2	4.264700	0.80358	.	.	ENSG00000151490	ENST00000281171;ENST00000348962	D;D	0.84298	-1.83;-1.83	5.34	5.34	0.76211	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.45867	D	0.000340	D	0.85191	0.5640	N	0.17082	0.46	0.80722	D	1	D;D	0.71674	0.998;0.996	D;P	0.64877	0.93;0.853	D	0.87677	0.2545	10	0.87932	D	0	.	14.0453	0.64702	0.0:0.0:0.0:1.0	.	604;604	Q16827-2;Q16827	.;PTPRO_HUMAN	H	604	ENSP00000281171:Y604H;ENSP00000343434:Y604H	ENSP00000281171:Y604H	Y	+	1	0	PTPRO	15564432	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.172000	0.77604	2.240000	0.73641	0.533000	0.62120	TAC	PTPRO	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000151490		0.463	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRO	HGNC	protein_coding	OTTHUMT00000401079.1	98	0.00	0	T			15673165	15673165	+1	no_errors	ENST00000281171	ensembl	human	known	69_37n	missense	110	25.17	37	SNP	1.000	C
RLF	6018	genome.wustl.edu	37	1	40702980	40702980	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr1:40702980A>G	ENST00000372771.4	+	8	2633	c.2606A>G	c.(2605-2607)gAt>gGt	p.D869G		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	869					chromosome organization (GO:0051276)|DNA integration (GO:0015074)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|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)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			TTACCTGAAGATCTTTTCTGT	0.353																																						dbGAP											0													50.0	53.0	52.0					1																	40702980		2203	4299	6502	-	-	-	SO:0001583	missense	0				CCDS448.1	1p32	2010-05-07	2005-08-16		ENSG00000117000	ENSG00000117000		"""Zinc fingers, C2H2-type"""	10025	protein-coding gene	gene with protein product		180610	"""rearranged L-myc fusion sequence"""			1649386	Standard	NM_012421		Approved	ZNF292L, Zn-15L	uc001cfc.4	Q13129	OTTHUMG00000005763	ENST00000372771.4:c.2606A>G	1.37:g.40702980A>G	ENSP00000361857:p.Asp869Gly		Q14CQ1|Q9NU60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D869G	ENST00000372771.4	37	c.2606	CCDS448.1	1	.	.	.	.	.	.	.	.	.	.	A	7.055	0.565191	0.13498	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.14640	2.49	5.24	5.24	0.73138	.	0.241615	0.47093	D	0.000244	T	0.09423	0.0232	N	0.25647	0.755	0.22457	N	0.999084	B;B	0.25105	0.011;0.118	B;B	0.16722	0.012;0.016	T	0.17410	-1.0370	10	0.52906	T	0.07	-8.411	7.7302	0.28783	0.785:0.1414:0.0736:0.0	.	562;869	F5H2M5;Q13129	.;RLF_HUMAN	G	869;562	ENSP00000361857:D869G	ENSP00000361857:D869G	D	+	2	0	RLF	40475567	0.980000	0.34600	0.999000	0.59377	0.984000	0.73092	2.591000	0.46163	2.202000	0.70862	0.533000	0.62120	GAT	RLF	-	NULL	ENSG00000117000		0.353	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLF	HGNC	protein_coding	OTTHUMT00000015767.1	70	0.00	0	A	NM_012421		40702980	40702980	+1	no_errors	ENST00000372771	ensembl	human	known	69_37n	missense	67	34.31	35	SNP	0.672	G
RNF213	57674	genome.wustl.edu	37	17	78362440	78362440	+	Missense_Mutation	SNP	A	A	G			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr17:78362440A>G	ENST00000582970.1	+	64	15094	c.14951A>G	c.(14950-14952)gAc>gGc	p.D4984G	RNF213_ENST00000508628.2_Missense_Mutation_p.D5033G|RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.D3057G|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4984					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)			TACAGACACGACTGGAACTAT	0.418																																						dbGAP											0													180.0	191.0	188.0					17																	78362440		2203	4300	6503	-	-	-	SO:0001583	missense	0			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.14951A>G	17.37:g.78362440A>G	ENSP00000464087:p.Asp4984Gly		C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.D4984G	ENST00000582970.1	37	c.14951	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	A	23.6	4.432635	0.83776	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301;ENST00000427003	T	0.25912	1.77	5.34	5.34	0.76211	.	0.116802	0.56097	D	0.000032	T	0.54208	0.1844	M	0.83118	2.625	0.43114	D	0.994828	D	0.89917	1.0	D	0.74674	0.984	T	0.62058	-0.6934	10	0.72032	D	0.01	.	14.9933	0.71406	1.0:0.0:0.0:0.0	.	3057	Q63HN8	RN213_HUMAN	G	4984;5033;3057;334	ENSP00000338218:D3057G	ENSP00000338218:D3057G	D	+	2	0	RNF213	75977035	1.000000	0.71417	0.887000	0.34795	0.962000	0.63368	8.109000	0.89561	2.024000	0.59613	0.533000	0.62120	GAC	RNF213	-	NULL	ENSG00000173821		0.418	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	126	0.00	0	A	NM_020914		78362440	78362440	+1	no_errors	ENST00000582970	ensembl	human	known	69_37n	missense	51	68.32	110	SNP	1.000	G
SARS	6301	genome.wustl.edu	37	1	109773582	109773582	+	Missense_Mutation	SNP	T	T	G			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr1:109773582T>G	ENST00000234677.2	+	5	605	c.530T>G	c.(529-531)gTa>gGa	p.V177G	SARS_ENST00000369923.4_Missense_Mutation_p.V177G	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	177					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	GTGGTGATGGTAGATGGCTTT	0.488																																						dbGAP											0													154.0	149.0	150.0					1																	109773582		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	10537	protein-coding gene	gene with protein product	"""serine tRNA ligase 1, cytoplasmic"""	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.530T>G	1.37:g.109773582T>G	ENSP00000234677:p.Val177Gly		B2R6Y9|Q5T5C8|Q9NSE3	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Ser-tRNA-synth_IIa_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,prints_Ser-tRNA-synth_IIa,tigrfam_Ser-tRNA-synth_IIa	p.V177G	ENST00000234677.2	37	c.530	CCDS795.1	1	.	.	.	.	.	.	.	.	.	.	t	27.9	4.876476	0.91664	.	.	ENSG00000031698	ENST00000234677;ENST00000369923	T;T	0.76578	-1.03;-1.03	5.09	5.09	0.68999	.	0.058771	0.64402	D	0.000002	D	0.84115	0.5401	M	0.78801	2.425	0.80722	D	1	D;D;D	0.76494	0.987;0.999;0.987	P;D;P	0.65323	0.864;0.934;0.864	D	0.87023	0.2130	10	0.87932	D	0	-10.1779	14.5445	0.68017	0.0:0.0:0.0:1.0	.	177;177;177	Q0VGA5;Q5T5C7;P49591	.;.;SYSC_HUMAN	G	177	ENSP00000234677:V177G;ENSP00000358939:V177G	ENSP00000234677:V177G	V	+	2	0	SARS	109575105	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.986000	0.88173	1.910000	0.55303	0.528000	0.53228	GTA	SARS	-	pirsf_Ser-tRNA-synth_IIa,tigrfam_Ser-tRNA-synth_IIa	ENSG00000031698		0.488	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARS	HGNC	protein_coding	OTTHUMT00000032394.2	283	0.70	2	T	NM_006513		109773582	109773582	+1	no_errors	ENST00000369923	ensembl	human	known	69_37n	missense	235	38.32	146	SNP	1.000	G
S100A7L2	645922	genome.wustl.edu	37	1	153409544	153409544	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr1:153409544C>T	ENST00000368725.2	-	3	328	c.329G>A	c.(328-330)gGa>gAa	p.G110E		NM_001045479.1	NP_001038944.2	Q5SY68	S1A7B_HUMAN	S100 calcium binding protein A7-like 2	99							calcium ion binding (GO:0005509)	p.G99E(1)		NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCACTGGCTTCCCCCGGAACA	0.502																																						dbGAP											1	Substitution - Missense(1)	NS(1)											156.0	168.0	164.0					1																	153409544		2203	4300	6503	-	-	-	SO:0001583	missense	0					1q21.3	2013-01-10			ENSG00000197364	ENSG00000197364		"""EF-hand domain containing"""	21655	protein-coding gene	gene with protein product							Standard	NM_001045479		Approved	s100a7b	uc010pdx.2	Q5SY68	OTTHUMG00000013129	ENST00000368725.2:c.329G>A	1.37:g.153409544C>T	ENSP00000357714:p.Gly110Glu			Missense_Mutation	SNP	pfscan_EF_HAND_2	p.G110E	ENST00000368725.2	37	c.329		1	.	.	.	.	.	.	.	.	.	.	.	11.64	1.699452	0.30142	.	.	ENSG00000197364	ENST00000368725;ENST00000368724;ENST00000453814	T;T;T	0.17213	2.43;2.43;2.29	1.7	-1.48	0.08745	EF-hand-like domain (1);	.	.	.	.	T	0.05456	0.0144	M	0.70595	2.14	0.09310	N	1	B	0.34255	0.445	B	0.25759	0.063	T	0.23655	-1.0182	9	0.54805	T	0.06	.	5.0506	0.14507	0.0:0.4318:0.0:0.5682	.	99	Q5SY68	S1A7B_HUMAN	E	99;99;110	ENSP00000357714:G99E;ENSP00000357713:G99E;ENSP00000405610:G110E	ENSP00000357713:G99E	G	-	2	0	S100A7L2	151676168	0.001000	0.12720	0.000000	0.03702	0.023000	0.10783	-0.029000	0.12329	-0.499000	0.06623	0.407000	0.27541	GGA	S100A7L2	-	NULL	ENSG00000197364		0.502	S100A7L2-001	KNOWN	basic|appris_principal	protein_coding	S100A7L2	HGNC	protein_coding	OTTHUMT00000036797.2	280	0.36	1	C	NM_001045479		153409544	153409544	-1	no_errors	ENST00000453814	ensembl	human	known	69_37n	missense	217	10.33	25	SNP	0.000	T
RXRG	6258	genome.wustl.edu	37	1	165370566	165370566	+	Silent	SNP	G	G	A			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr1:165370566G>A	ENST00000359842.5	-	10	1628	c.1326C>T	c.(1324-1326)ctC>ctT	p.L442L		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	442	Ligand-binding. {ECO:0000250}.				gene expression (GO:0010467)|heart development (GO:0007507)|neuron differentiation (GO:0030182)|peripheral nervous system development (GO:0007422)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myelination (GO:0031641)|response to retinoic acid (GO:0032526)|skeletal muscle tissue development (GO:0007519)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	9-cis retinoic acid receptor activity (GO:0004886)|sequence-specific DNA binding (GO:0043565)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tretinoin(DB00755)	TGTCCCCGATGAGCTTGAAGA	0.597																																						dbGAP											0													111.0	105.0	107.0					1																	165370566		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U38480	CCDS1248.1, CCDS72970.1	1q22-q23	2013-01-16			ENSG00000143171	ENSG00000143171		"""Nuclear hormone receptors"""	10479	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 3"""	180247				8034312	Standard	NR_033824		Approved	NR2B3	uc001gda.3	P48443	OTTHUMG00000034626	ENST00000359842.5:c.1326C>T	1.37:g.165370566G>A			A6NIP1|Q6IBU7	Silent	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_DUF3345,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF	p.L442	ENST00000359842.5	37	c.1326	CCDS1248.1	1																																																																																			RXRG	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd	ENSG00000143171		0.597	RXRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RXRG	HGNC	protein_coding	OTTHUMT00000083794.2	140	0.00	0	G	NM_006917		165370566	165370566	-1	no_errors	ENST00000359842	ensembl	human	known	69_37n	silent	32	46.67	28	SNP	1.000	A
SEPT5	5413	genome.wustl.edu	37	22	19707720	19707720	+	Silent	SNP	G	G	C			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr22:19707720G>C	ENST00000455784.2	+	5	446	c.321G>C	c.(319-321)gtG>gtC	p.V107V	SEPT5_ENST00000383045.3_Silent_p.V116V|SEPT5_ENST00000406395.1_Silent_p.V107V|GP1BB_ENST00000366425.3_5'Flank|SEPT5_ENST00000438754.2_Silent_p.V116V	NM_002688.5	NP_002679.2	Q99719	SEPT5_HUMAN	septin 5	107	Septin-type G.				cytokinesis (GO:0000910)|GTP catabolic process (GO:0006184)|regulation of exocytosis (GO:0017157)|regulation of synaptic vesicle exocytosis (GO:2000300)|synaptic vesicle targeting (GO:0016080)	plasma membrane (GO:0005886)|septin complex (GO:0031105)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural molecule activity (GO:0005198)			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					TCACCATCGTGGACACGCCGG	0.602																																						dbGAP											0													122.0	100.0	108.0					22																	19707720		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			Y11593	CCDS13764.1, CCDS56224.1	22q11.2	2013-01-21	2005-01-11	2005-01-12	ENSG00000184702	ENSG00000184702		"""Septins"""	9164	protein-coding gene	gene with protein product		602724	"""peanut-like 1 (Drosophila)"""	PNUTL1		9385360, 9611266	Standard	NM_002688		Approved	HCDCREL-1, H5		Q99719	OTTHUMG00000150399	ENST00000455784.2:c.321G>C	22.37:g.19707720G>C			O15251|Q96MY5	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd	p.G4R	ENST00000455784.2	37	c.10	CCDS13764.1	22	.	.	.	.	.	.	.	.	.	.	G	9.875	1.199976	0.22121	.	.	ENSG00000184702	ENST00000413258	.	.	.	3.89	1.77	0.24775	.	.	.	.	.	T	0.54029	0.1833	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.44128	-0.9348	4	.	.	.	.	6.4539	0.21918	0.1722:0.1497:0.6781:0.0	.	.	.	.	R	4	.	.	G	+	1	0	SEPT5	18087720	1.000000	0.71417	1.000000	0.80357	0.749000	0.42624	1.011000	0.29911	0.427000	0.26145	0.455000	0.32223	GGA	SEPT5	-	pfam_Cell_div_GTP-bd	ENSG00000184702		0.602	SEPT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT5	HGNC	protein_coding	OTTHUMT00000317937.1	21	0.00	0	G	NM_002688		19707720	19707720	+1	no_start_codon:pseudogene:no_stop_codon	ENST00000413258	ensembl	human	novel	69_37n	missense	104	38.46	65	SNP	1.000	C
SLC12A9	56996	genome.wustl.edu	37	7	100456721	100456721	+	Silent	SNP	C	C	T			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr7:100456721C>T	ENST00000354161.3	+	7	1040	c.915C>T	c.(913-915)gcC>gcT	p.A305A	SLC12A9_ENST00000475623.1_3'UTR|SLC12A9_ENST00000540482.1_Silent_p.A305A|SLC12A9_ENST00000415287.1_Silent_p.A216A|SLC12A9_ENST00000275729.3_Silent_p.A216A|SLC12A9_ENST00000428758.1_Silent_p.A305A	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	305					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CGATCGTCGCCGTCGCCTACA	0.617																																						dbGAP											0													221.0	206.0	211.0					7																	100456721		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.915C>T	7.37:g.100456721C>T			B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Silent	SNP	pfam_AA-permease_dom	p.A305	ENST00000354161.3	37	c.915	CCDS5707.1	7																																																																																			SLC12A9	-	pfam_AA-permease_dom	ENSG00000146828		0.617	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A9	HGNC	protein_coding	OTTHUMT00000342837.1	261	0.00	0	C	NM_020246		100456721	100456721	+1	no_errors	ENST00000354161	ensembl	human	known	69_37n	silent	140	40.68	96	SNP	0.138	T
TAOK3	51347	genome.wustl.edu	37	12	118590205	118590205	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr12:118590205C>T	ENST00000392533.3	-	20	2852	c.2362G>A	c.(2362-2364)Gat>Aat	p.D788N	TAOK3_ENST00000419821.2_Missense_Mutation_p.D788N|TAOK3_ENST00000537952.1_Missense_Mutation_p.D328N|TAOK3_ENST00000543709.1_5'UTR|TAOK3_ENST00000536979.1_5'UTR	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	788					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGAGCCTCATCTAGCCGTAAC	0.537																																						dbGAP											0													110.0	89.0	96.0					12																	118590205		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.2362G>A	12.37:g.118590205C>T	ENSP00000376317:p.Asp788Asn		Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	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,pfscan_Prot_kinase_cat_dom	p.D788N	ENST00000392533.3	37	c.2362	CCDS9188.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.456307	0.96223	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000537952	T;T;T	0.75050	-0.9;-0.9;1.05	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.86322	0.5905	M	0.78049	2.395	0.80722	D	1	D	0.71674	0.998	D	0.66847	0.947	D	0.87646	0.2525	10	0.87932	D	0	.	19.0098	0.92868	0.0:1.0:0.0:0.0	.	788	Q9H2K8	TAOK3_HUMAN	N	788;788;328	ENSP00000416374:D788N;ENSP00000376317:D788N;ENSP00000443834:D328N	ENSP00000376317:D788N	D	-	1	0	TAOK3	117074588	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.619000	0.83057	2.724000	0.93272	0.585000	0.79938	GAT	TAOK3	-	NULL	ENSG00000135090		0.537	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK3	HGNC	protein_coding	OTTHUMT00000401456.2	95	0.00	0	C	NM_016281		118590205	118590205	-1	no_errors	ENST00000392533	ensembl	human	known	69_37n	missense	47	26.56	17	SNP	1.000	T
TARS2	80222	genome.wustl.edu	37	1	150471489	150471489	+	Silent	SNP	C	C	T			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr1:150471489C>T	ENST00000369064.3	+	12	1552	c.1518C>T	c.(1516-1518)tgC>tgT	p.C506C	TARS2_ENST00000438568.2_3'UTR|TARS2_ENST00000463555.1_3'UTR|TARS2_ENST00000369054.2_Silent_p.C376C|TARS2_ENST00000606933.1_Silent_p.C424C	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	506					gene expression (GO:0010467)|mitochondrial threonyl-tRNA aminoacylation (GO:0070159)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|threonine-tRNA ligase activity (GO:0004829)			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GGGACCCTTGCCTTTGGGACC	0.542																																						dbGAP											0													83.0	80.0	81.0					1																	150471489		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC007824	CCDS952.1, CCDS60251.1, CCDS60252.1	1q21.2	2012-10-26	2007-02-23	2007-02-23	ENSG00000143374	ENSG00000143374	6.1.1.3	"""Aminoacyl tRNA synthetases / Class II"""	30740	protein-coding gene	gene with protein product	"""threonine tRNA ligase 2, mitochondrial"""	612805	"""threonyl-tRNA synthetase-like 1"""	TARSL1			Standard	NM_001271895		Approved	FLJ12528	uc001euq.4	Q9BW92	OTTHUMG00000012809	ENST00000369064.3:c.1518C>T	1.37:g.150471489C>T			Q53GW7|Q96I50|Q9H9V2	Silent	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-synth_IIa,tigrfam_Thr-tRNA-synth_IIa	p.C506	ENST00000369064.3	37	c.1518	CCDS952.1	1																																																																																			TARS2	-	pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-synth_IIa	ENSG00000143374		0.542	TARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TARS2	HGNC	protein_coding	OTTHUMT00000035847.1	133	0.00	0	C	NM_025150		150471489	150471489	+1	no_errors	ENST00000369064	ensembl	human	known	69_37n	silent	133	40.97	93	SNP	0.005	T
TBC1D2	55357	genome.wustl.edu	37	9	100961795	100961795	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr9:100961795G>T	ENST00000375066.5	-	13	2713	c.2622C>A	c.(2620-2622)caC>caA	p.H874Q	TBC1D2_ENST00000375063.1_Missense_Mutation_p.H425Q|TBC1D2_ENST00000375064.1_3'UTR|TBC1D2_ENST00000342112.5_Missense_Mutation_p.H667Q	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	885					positive regulation of Rab GTPase activity (GO:0032851)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)	cadherin binding (GO:0045296)|Rab GTPase activator activity (GO:0005097)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GCCGCTCCCGGTGGACCATGC	0.632																																						dbGAP											0													121.0	129.0	126.0					9																	100961795		2203	4297	6500	-	-	-	SO:0001583	missense	0			AY026527	CCDS35080.1, CCDS59137.1, CCDS75865.1	9q22.32	2011-11-30			ENSG00000095383	ENSG00000095383			18026	protein-coding gene	gene with protein product	"""prostate antigen recognized and identified by SEREX"""	609871					Standard	NM_018421		Approved	PARIS1, TBC1D2A, Armus	uc011lvb.2	Q9BYX2	OTTHUMG00000020343	ENST00000375066.5:c.2622C>A	9.37:g.100961795G>T	ENSP00000364207:p.His874Gln		B3KWD1|B4DQ05|B9A6J7|Q59EU0|Q5TBQ5|Q6IPC7|Q7L1K8|Q8WYT1|Q9H6A2|Q9NSH4	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom	p.H874Q	ENST00000375066.5	37	c.2622	CCDS35080.1	9	.	.	.	.	.	.	.	.	.	.	G	17.19	3.326511	0.60743	.	.	ENSG00000095383	ENST00000375066;ENST00000342112;ENST00000375063	T;T;T	0.09911	2.93;3.39;3.08	5.4	3.57	0.40892	.	0.000000	0.85682	D	0.000000	T	0.30070	0.0753	M	0.79926	2.475	0.48288	D	0.999629	D;D	0.89917	1.0;1.0	D;D	0.74674	0.963;0.984	T	0.01262	-1.1402	10	0.45353	T	0.12	.	8.8176	0.35004	0.2301:0.0:0.7699:0.0	.	885;874	Q9BYX2;Q9BYX2-2	TBD2A_HUMAN;.	Q	874;667;425	ENSP00000364207:H874Q;ENSP00000341567:H667Q;ENSP00000364203:H425Q	ENSP00000341567:H667Q	H	-	3	2	TBC1D2	100001616	1.000000	0.71417	0.996000	0.52242	0.697000	0.40408	2.893000	0.48633	0.664000	0.31047	0.511000	0.50034	CAC	TBC1D2	-	NULL	ENSG00000095383		0.632	TBC1D2-002	KNOWN	basic|CCDS	protein_coding	TBC1D2	HGNC	protein_coding	OTTHUMT00000053367.1	45	0.00	0	G	NM_018421		100961795	100961795	-1	no_errors	ENST00000375066	ensembl	human	known	69_37n	missense	19	26.92	7	SNP	1.000	T
TCTN2	79867	genome.wustl.edu	37	12	124156618	124156618	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr12:124156618C>T	ENST00000303372.5	+	3	334	c.206C>T	c.(205-207)cCg>cTg	p.P69L	TCTN2_ENST00000426174.2_Missense_Mutation_p.P69L	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	69					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		TTGCCAATTCCGACGTGTGGA	0.522																																						dbGAP											0													163.0	157.0	159.0					12																	124156618		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK056924	CCDS9253.1, CCDS45007.1	12q24.31	2011-04-12	2007-08-20	2007-08-20	ENSG00000168778	ENSG00000168778		"""Tectonic proteins"""	25774	protein-coding gene	gene with protein product	"""Meckel syndrome, type 8"""	613846	"""chromosome 12 open reading frame 38"""	C12orf38		21462283	Standard	NM_024809		Approved	FLJ12975, TECT2, MKS8	uc001ufp.3	Q96GX1	OTTHUMG00000168700	ENST00000303372.5:c.206C>T	12.37:g.124156618C>T	ENSP00000304941:p.Pro69Leu		A8K7Y8|B3KPW5|Q9H966	Missense_Mutation	SNP	pfam_DUF1619	p.P69L	ENST00000303372.5	37	c.206	CCDS9253.1	12	.	.	.	.	.	.	.	.	.	.	C	18.48	3.632770	0.67015	.	.	ENSG00000168778	ENST00000426174;ENST00000303372	D;D	0.86769	-2.17;-2.17	4.51	4.51	0.55191	.	0.000000	0.64402	D	0.000002	D	0.92080	0.7490	M	0.74881	2.28	0.37188	D	0.903822	D;D	0.89917	1.0;1.0	D;D	0.69307	0.963;0.963	D	0.94134	0.7391	10	0.87932	D	0	-4.0371	12.6851	0.56944	0.0:1.0:0.0:0.0	.	69;69	A8K7Y8;Q96GX1	.;TECT2_HUMAN	L	69	ENSP00000395171:P69L;ENSP00000304941:P69L	ENSP00000304941:P69L	P	+	2	0	TCTN2	122722571	0.218000	0.23608	0.278000	0.24718	0.100000	0.18952	3.302000	0.51849	2.363000	0.80096	0.650000	0.86243	CCG	TCTN2	-	NULL	ENSG00000168778		0.522	TCTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TCTN2	HGNC	protein_coding	OTTHUMT00000400652.1	227	0.00	0	C	NM_024809		124156618	124156618	+1	no_errors	ENST00000303372	ensembl	human	known	69_37n	missense	37	68.64	81	SNP	0.268	T
TEX15	56154	genome.wustl.edu	37	8	30704902	30704902	+	Missense_Mutation	SNP	T	T	G			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr8:30704902T>G	ENST00000256246.2	-	1	1706	c.1632A>C	c.(1630-1632)agA>agC	p.R544S	TEX15_ENST00000523186.1_5'Flank	NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	544					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)					NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CATTATCTTCTCTGCAAATCA	0.318																																						dbGAP											0													72.0	73.0	73.0					8																	30704902		2203	4299	6502	-	-	-	SO:0001583	missense	0			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.1632A>C	8.37:g.30704902T>G	ENSP00000256246:p.Arg544Ser			Missense_Mutation	SNP	NULL	p.R544S	ENST00000256246.2	37	c.1632	CCDS6080.1	8	.	.	.	.	.	.	.	.	.	.	T	11.33	1.607547	0.28623	.	.	ENSG00000133863	ENST00000256246	T	0.10099	2.91	5.61	0.301	0.15781	.	0.975538	0.08406	N	0.950650	T	0.05044	0.0135	N	0.08118	0	0.09310	N	1	B	0.32467	0.372	B	0.26864	0.074	T	0.38200	-0.9672	10	0.87932	D	0	.	5.4738	0.16684	0.0:0.2227:0.1523:0.625	.	544	Q9BXT5	TEX15_HUMAN	S	544	ENSP00000256246:R544S	ENSP00000256246:R544S	R	-	3	2	TEX15	30824444	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-0.354000	0.07681	-0.102000	0.12197	0.528000	0.53228	AGA	TEX15	-	NULL	ENSG00000133863		0.318	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX15	HGNC	protein_coding	OTTHUMT00000376193.1	43	0.00	0	T			30704902	30704902	-1	no_errors	ENST00000256246	ensembl	human	known	69_37n	missense	100	37.89	61	SNP	0.000	G
THADA	63892	genome.wustl.edu	37	2	43793935	43793935	+	Missense_Mutation	SNP	C	C	T			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr2:43793935C>T	ENST00000405006.4	-	15	2564	c.2213G>A	c.(2212-2214)aGt>aAt	p.S738N	THADA_ENST00000404790.1_Missense_Mutation_p.S738N|THADA_ENST00000403856.1_Missense_Mutation_p.S738N|THADA_ENST00000402360.2_Missense_Mutation_p.S738N|THADA_ENST00000415080.2_Missense_Mutation_p.S448N|THADA_ENST00000405975.2_Missense_Mutation_p.S738N|THADA_ENST00000330266.7_Missense_Mutation_p.S448N	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	738										breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TTCAAAAAGACTGTTACAAAT	0.308																																						dbGAP											0													47.0	40.0	42.0					2																	43793935		1797	4065	5862	-	-	-	SO:0001583	missense	0			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.2213G>A	2.37:g.43793935C>T	ENSP00000385995:p.Ser738Asn		A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Missense_Mutation	SNP	pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold	p.S738N	ENST00000405006.4	37	c.2213	CCDS46268.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.21|11.21	1.570276|1.570276	0.28003|0.28003	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000330266;ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006;ENST00000402360;ENST00000404790;ENST00000403856|ENST00000407351	T;T;T;T;T;T;T|.	0.66099|.	-0.19;-0.19;-0.19;-0.19;-0.13;-0.13;1.44|.	6.08|6.08	3.17|3.17	0.36434|0.36434	Armadillo-type fold (1);|.	0.615055|.	0.16923|.	N|.	0.193995|.	T|T	0.38374|0.38374	0.1038|0.1038	L|L	0.51422|0.51422	1.61|1.61	0.20926|0.20926	N|N	0.999829|0.999829	B;P;B;B;B;B|.	0.43094|.	0.335;0.799;0.178;0.376;0.259;0.22|.	B;B;B;B;B;B|.	0.39840|.	0.058;0.311;0.124;0.076;0.081;0.058|.	T|T	0.28073|0.28073	-1.0055|-1.0055	10|5	0.27785|.	T|.	0.31|.	.|.	4.7604|4.7604	0.13104|0.13104	0.2435:0.4105:0.2788:0.0672|0.2435:0.4105:0.2788:0.0672	.|.	739;738;738;738;448;738|.	B6ZDQ0;B5MC89;Q8IY32;Q6YHU6-5;C9JJB1;Q6YHU6|.	.;.;.;.;.;THADA_HUMAN|.	N|I	448;738;739;448;738;738;738;738|52	ENSP00000331105:S448N;ENSP00000386088:S738N;ENSP00000416048:S448N;ENSP00000385995:S738N;ENSP00000385441:S738N;ENSP00000384266:S738N;ENSP00000385469:S738N|.	ENSP00000331105:S448N|.	S|V	-|-	2|1	0|0	THADA|THADA	43647439|43647439	0.434000|0.434000	0.25570|0.25570	0.950000|0.950000	0.38849|0.38849	0.973000|0.973000	0.67179|0.67179	-0.229000|-0.229000	0.09098|0.09098	0.345000|0.345000	0.23873|0.23873	0.591000|0.591000	0.81541|0.81541	AGT|GTC	THADA	-	superfamily_ARM-type_fold	ENSG00000115970		0.308	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THADA	HGNC	protein_coding	OTTHUMT00000326070.3	103	0.00	0	C	NM_022065		43793935	43793935	-1	no_errors	ENST00000405006	ensembl	human	known	69_37n	missense	93	39.22	60	SNP	0.708	T
TRDC	28526	genome.wustl.edu	37	14	22931941	22931941	+	RNA	SNP	A	A	T			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr14:22931941A>T	ENST00000390477.2	+	0	18				AE000661.37_ENST00000556777.1_RNA|AE000661.37_ENST00000514473.2_RNA			B7Z8K6	TRDC_HUMAN	T cell receptor delta constant							integral component of membrane (GO:0016021)											GCCTCATACCAAACCATCCGT	0.388																																						dbGAP											0													44.0	44.0	44.0					14																	22931941		1902	4141	6043	-	-	-			0			M22148		14q11.2	2012-02-07			ENSG00000211829	ENSG00000211829		"""T cell receptors / TRD locus"""	12253	other	T cell receptor gene		186810					Standard	NG_001332		Approved			B7Z8K6	OTTHUMG00000170905		14.37:g.22931941A>T				Silent	SNP	pfam_Ig_C1-set	p.P6	ENST00000390477.2	37	c.18		14																																																																																			TRDC	-	NULL	ENSG00000211829		0.388	TRDC-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	TR_C_gene	TRDC	HGNC	TR_C_gene	OTTHUMT00000410936.1	112	0.00	0	A	NG_001332		22931941	22931941	+1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000390477	ensembl	human	known	69_37n	silent	162	10.50	19	SNP	0.004	T
TTC39A	22996	genome.wustl.edu	37	1	51767913	51767913	+	Intron	DEL	C	C	-	rs375305601		TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr1:51767913delC	ENST00000447632.2	-	11	1048				TTC39A_ENST00000371747.3_Intron|TTC39A_ENST00000262675.7_Intron|TTC39A_ENST00000413473.2_Intron|TTC39A_ENST00000371750.5_Intron|TTC39A_ENST00000262676.5_Frame_Shift_Del_p.G368fs|TTC39A_ENST00000451380.1_Intron			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A									p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						TCTCTCTTGGCCCCCCCCCCG	0.647																																						dbGAP											2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)																																								-	-	-	SO:0001627	intron_variant	0			AB007921	CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1	1p32.3	2013-01-11	2008-06-23	2008-06-23	ENSG00000085831	ENSG00000085831		"""Tetratricopeptide (TTC) repeat domain containing"""	18657	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 34"""	C1orf34		9455484, 9461476	Standard	XM_005270643		Approved	KIAA0452, DEME-6	uc010onf.2	Q5SRH9	OTTHUMG00000008193	ENST00000447632.2:c.999+115G>-	1.37:g.51767913delC			B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Frame_Shift_Del	DEL	pfam_OMP_IML2_mit/TPR_39	p.G368fs	ENST00000447632.2	37	c.1103		1																																																																																			TTC39A	-	NULL	ENSG00000085831		0.647	TTC39A-004	KNOWN	basic	protein_coding	TTC39A	HGNC	protein_coding	OTTHUMT00000022434.2	9	0.00	0	C			51767913	51767913	-1	no_errors	ENST00000262676	ensembl	human	known	69_37n	frame_shift_del	14	17.65	3	DEL	0.000	-
TTN	7273	genome.wustl.edu	37	2	179583919	179583919	+	Missense_Mutation	SNP	A	A	T			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr2:179583919A>T	ENST00000591111.1	-	81	23471	c.23247T>A	c.(23245-23247)gaT>gaA	p.D7749E	TTN_ENST00000589042.1_Missense_Mutation_p.D8066E|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D6822E|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	13292	Ig-like 59.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGAGCACTCATCGGAACCAG	0.522																																						dbGAP											0													61.0	64.0	63.0					2																	179583919		2114	4230	6344	-	-	-	SO:0001583	missense	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.23247T>A	2.37:g.179583919A>T	ENSP00000465570:p.Asp7749Glu		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D6822E	ENST00000591111.1	37	c.20466		2	.	.	.	.	.	.	.	.	.	.	A	8.813	0.935698	0.18206	.	.	ENSG00000155657	ENST00000342992	T	0.66638	-0.22	5.87	-11.7	0.00046	Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.53834	0.1821	L	0.60012	1.86	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.57033	-0.7880	9	0.87932	D	0	.	10.2596	0.43419	0.4968:0.3766:0.0687:0.0579	.	7749	Q8WZ42	TITIN_HUMAN	E	6822	ENSP00000343764:D6822E	ENSP00000343764:D6822E	D	-	3	2	TTN	179292164	0.000000	0.05858	0.002000	0.10522	0.262000	0.26303	-1.368000	0.02580	-4.240000	0.00062	-0.909000	0.02823	GAT	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like	ENSG00000155657		0.522	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	62	0.00	0	A	NM_133378		179583919	179583919	-1	no_errors	ENST00000342992	ensembl	human	known	69_37n	missense	17	61.36	27	SNP	0.011	T
UBAP2L	9898	genome.wustl.edu	37	1	154232354	154232354	+	Intron	SNP	C	C	G	rs150918720	byFrequency	TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr1:154232354C>G	ENST00000361546.2	+	21	2538				UBAP2L_ENST00000428931.1_Intron|UBAP2L_ENST00000343815.6_Intron|SNORA58_ENST00000364259.1_RNA|UBAP2L_ENST00000271877.7_Intron			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like						binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTTTTTCCTCCGTGGAAATAG	0.418																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.2497-70C>G	1.37:g.154232354C>G			B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	RNA	SNP	-	NULL	ENST00000361546.2	37	NULL	CCDS1063.1	1																																																																																			UBAP2L	-	-	ENSG00000143569		0.418	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2L	HGNC	protein_coding	OTTHUMT00000087673.1	100	0.00	0	C	NM_014847		154232354	154232354	+1	no_errors	ENST00000475373	ensembl	human	known	69_37n	rna	114	36.67	66	SNP	0.001	G
UCP2	7351	genome.wustl.edu	37	11	73686076	73686076	+	Nonsense_Mutation	SNP	G	G	T			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr11:73686076G>T	ENST00000310473.3	-	8	1748	c.906C>A	c.(904-906)tgC>tgA	p.C302*	UCP2_ENST00000536983.1_3'UTR	NM_003355.2	NP_003346.2	P55851	UCP2_HUMAN	uncoupling protein 2 (mitochondrial, proton carrier)	302					aging (GO:0007568)|cellular metabolic process (GO:0044237)|cellular response to amino acid starvation (GO:0034198)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|female pregnancy (GO:0007565)|liver regeneration (GO:0097421)|mitochondrial transport (GO:0006839)|negative regulation of apoptotic process (GO:0043066)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|positive regulation of cell death (GO:0010942)|proton transport (GO:0015992)|regulation of mitochondrial membrane potential (GO:0051881)|respiratory electron transport chain (GO:0022904)|response to fatty acid (GO:0070542)|response to hypoxia (GO:0001666)|response to superoxide (GO:0000303)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				large_intestine(1)|lung(3)|prostate(1)	5	Breast(11;0.000112)					CTCGGGAAGTGCAGGCAGCCA	0.557																																					Colon(191;388 2040 43557 45622 48925)	dbGAP											0													65.0	64.0	65.0					11																	73686076		2200	4293	6493	-	-	-	SO:0001587	stop_gained	0			U76367	CCDS8228.1	11q13	2014-02-12						"""Solute carriers"""	12518	protein-coding gene	gene with protein product		601693	"""body mass index QTL 4"", ""body mass index quantitative trait 4"""	BMIQ4		9196039, 11381268	Standard	NM_003355		Approved	SLC25A8	uc001oup.1	P55851		ENST00000310473.3:c.906C>A	11.37:g.73686076G>T	ENSP00000312029:p.Cys302*		Q4PJH8|Q53HM3	Nonsense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling	p.C302*	ENST00000310473.3	37	c.906	CCDS8228.1	11	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039143	0.55003	.	.	ENSG00000175567	ENST00000310473;ENST00000544615	.	.	.	5.95	-0.722	0.11184	.	0.694091	0.15649	N	0.251498	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-21.6822	2.5513	0.04750	0.3212:0.1075:0.461:0.1103	.	.	.	.	X	302;275	.	ENSP00000312029:C302X	C	-	3	2	UCP2	73363724	0.003000	0.15002	0.001000	0.08648	0.818000	0.46254	0.386000	0.20702	-0.084000	0.12595	-0.136000	0.14681	TGC	UCP2	-	prints_Mit_uncoupling	ENSG00000175567		0.557	UCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCP2	HGNC	protein_coding	OTTHUMT00000398108.1	123	0.00	0	G	NM_003355		73686076	73686076	-1	no_errors	ENST00000310473	ensembl	human	known	69_37n	nonsense	63	38.83	40	SNP	0.000	T
VIT	5212	genome.wustl.edu	37	2	36994266	36994266	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr2:36994266C>A	ENST00000389975.3	+	7	819	c.517C>A	c.(517-519)Cct>Act	p.P173T	VIT_ENST00000379241.3_Missense_Mutation_p.P173T|VIT_ENST00000497382.1_5'UTR|VIT_ENST00000401530.1_Missense_Mutation_p.P173T|VIT_ENST00000379242.3_Missense_Mutation_p.P173T|VIT_ENST00000404084.1_Missense_Mutation_p.P151T	NM_001177969.1|NM_001177970.1	NP_001171440.1|NP_001171441.1	Q6UXI7	VITRN_HUMAN	vitrin	173					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)	glycosaminoglycan binding (GO:0005539)			autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TCAGAGGCCACCTATTCCAGG	0.488																																						dbGAP											0													65.0	62.0	63.0					2																	36994266		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF063833	CCDS33180.1, CCDS54347.1, CCDS54348.1, CCDS54349.1, CCDS54350.1	2p22.2	2008-05-15			ENSG00000205221	ENSG00000205221			12697	protein-coding gene	gene with protein product							Standard	NM_001177969		Approved		uc002rpl.3	Q6UXI7	OTTHUMG00000152149	ENST00000389975.3:c.517C>A	2.37:g.36994266C>A	ENSP00000374625:p.Pro173Thr		A1A526|A6NKI9|A8K7Y4|E9PF47|Q6P7T3|Q96DM8|Q96DT1|Q9UDN0	Missense_Mutation	SNP	pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A	p.P173T	ENST00000389975.3	37	c.517	CCDS54347.1	2	.	.	.	.	.	.	.	.	.	.	C	8.407	0.843330	0.16963	.	.	ENSG00000205221	ENST00000379242;ENST00000389975;ENST00000404084;ENST00000379241;ENST00000401530	T;T;T;T;T	0.64260	-0.05;0.0;-0.09;-0.0;-0.06	4.95	-4.97	0.03029	.	1.442550	0.04083	N	0.310009	T	0.34948	0.0915	N	0.08118	0	0.09310	N	1	B;B;B;B	0.15141	0.0;0.002;0.001;0.012	B;B;B;B	0.11329	0.001;0.003;0.001;0.006	T	0.18618	-1.0331	10	0.13108	T	0.6	0.5206	6.4491	0.21894	0.1773:0.536:0.0:0.2867	.	173;173;173;173	E9PF47;Q6UXI7-2;Q6UXI7;Q6UXI7-4	.;.;VITRN_HUMAN;.	T	173;173;151;173;173	ENSP00000368544:P173T;ENSP00000374625:P173T;ENSP00000384154:P151T;ENSP00000368543:P173T;ENSP00000385658:P173T	ENSP00000368543:P173T	P	+	1	0	VIT	36847770	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.657000	0.05335	-0.641000	0.05487	-0.157000	0.13467	CCT	VIT	-	NULL	ENSG00000205221		0.488	VIT-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	VIT	HGNC	protein_coding		205	0.00	0	C			36994266	36994266	+1	no_errors	ENST00000379242	ensembl	human	known	69_37n	missense	82	31.67	38	SNP	0.003	A
VMP1	81671	genome.wustl.edu	37	17	57915716	57915716	+	Silent	SNP	A	A	G			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr17:57915716A>G	ENST00000262291.4	+	11	1345	c.1035A>G	c.(1033-1035)caA>caG	p.Q345Q	VMP1_ENST00000537567.1_Silent_p.Q211Q|VMP1_ENST00000588617.1_3'UTR|VMP1_ENST00000539763.1_Silent_p.Q153Q|VMP1_ENST00000545362.1_Silent_p.Q289Q|VMP1_ENST00000536180.1_Silent_p.Q248Q|MIR21_ENST00000362134.1_RNA	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	345					autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						TGGAGGCTCAACGGCAGAAGC	0.498																																						dbGAP											0													90.0	84.0	86.0					17																	57915716		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716			29559	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 3 homolog (C. elegans)"", ""transport and golgi organization 5 homolog (Drosophila)"""	611753	"""transmembrane protein 49"""	TMEM49		11230166, 11785947	Standard	NM_030938		Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	ENST00000262291.4:c.1035A>G	17.37:g.57915716A>G			B4DVV9|Q9H0P4|Q9P089	Silent	SNP	NULL	p.Q345	ENST00000262291.4	37	c.1035	CCDS11619.1	17																																																																																			VMP1	-	NULL	ENSG00000062716		0.498	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VMP1	HGNC	protein_coding	OTTHUMT00000448793.1	121	0.00	0	A	NM_030938		57915716	57915716	+1	no_errors	ENST00000262291	ensembl	human	known	69_37n	silent	28	74.55	82	SNP	1.000	G
WHSC1	7468	genome.wustl.edu	37	4	1941401	1941401	+	Missense_Mutation	SNP	G	G	A			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr4:1941401G>A	ENST00000382895.3	+	11	2208	c.1777G>A	c.(1777-1779)Gca>Aca	p.A593T	WHSC1_ENST00000382892.2_Missense_Mutation_p.A593T|WHSC1_ENST00000514045.1_Missense_Mutation_p.A593T|WHSC1_ENST00000420906.2_Missense_Mutation_p.A593T|WHSC1_ENST00000508803.1_Missense_Mutation_p.A593T|WHSC1_ENST00000398261.1_Missense_Mutation_p.A593T|WHSC1_ENST00000503128.1_Missense_Mutation_p.A593T|WHSC1_ENST00000482415.2_3'UTR|WHSC1_ENST00000382891.5_Missense_Mutation_p.A593T	NM_133330.2	NP_579877.1	O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	593					anatomical structure morphogenesis (GO:0009653)|atrial septum primum morphogenesis (GO:0003289)|atrial septum secundum morphogenesis (GO:0003290)|bone development (GO:0060348)|membranous septum morphogenesis (GO:0003149)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TCTGTCTGATGCATGTAAACC	0.373			T	IGH@	MM																																	dbGAP		Dom	yes		4	4p16.3	7468	Wolf-Hirschhorn syndrome candidate 1(MMSET)		L	0													75.0	71.0	72.0					4																	1941401		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF083386	CCDS3356.1, CCDS33940.1, CCDS46999.1	4p16.3	2013-05-20			ENSG00000109685	ENSG00000109685		"""Zinc fingers, PHD-type"""	12766	protein-coding gene	gene with protein product		602952				9618163, 9787135	Standard	NM_133334		Approved	MMSET, NSD2	uc003gdz.4	O96028	OTTHUMG00000121147	ENST00000382895.3:c.1777G>A	4.37:g.1941401G>A	ENSP00000372351:p.Ala593Thr		A2A2T2|A2A2T3|A2A2T4|A7MCZ1|D3DVQ2|O96031|Q4VBY8|Q672J1|Q6IS00|Q86V01|Q9BZB4|Q9UI92|Q9UPR2	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_superfamily,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_PWWP,smart_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_superfamily	p.A593T	ENST00000382895.3	37	c.1777	CCDS33940.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.0|25.0	4.593165|4.593165	0.86953|0.86953	.|.	.|.	ENSG00000109685|ENSG00000109685	ENST00000508803;ENST00000514045;ENST00000382891;ENST00000382892;ENST00000420906;ENST00000382895;ENST00000503128;ENST00000398261|ENST00000514329	D;T;D;D;T;D;T;T|.	0.95518|.	-3.73;0.33;-3.73;-3.73;0.33;-3.73;0.3;0.3|.	5.63|5.63	4.79|4.79	0.61399|0.61399	.|.	0.000000|.	0.52532|.	D|.	0.000076|.	T|T	0.68201|0.68201	0.2975|0.2975	L|L	0.55990|0.55990	1.75|1.75	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.998;0.999|.	T|T	0.66575|0.66575	-0.5889|-0.5889	10|5	0.46703|.	T|.	0.11|.	.|.	14.7406|14.7406	0.69451|0.69451	0.0697:0.0:0.9303:0.0|0.0697:0.0:0.9303:0.0	.|.	593;593;593|.	O96028-3;O96028;O96028-5|.	.;NSD2_HUMAN;.|.	T|Y	593|5	ENSP00000423972:A593T;ENSP00000421681:A593T;ENSP00000372347:A593T;ENSP00000372348:A593T;ENSP00000399251:A593T;ENSP00000372351:A593T;ENSP00000425761:A593T;ENSP00000381311:A593T|.	ENSP00000308780:A593T|.	A|C	+|+	1|2	0|0	WHSC1|WHSC1	1911199|1911199	1.000000|1.000000	0.71417|0.71417	0.970000|0.970000	0.41538|0.41538	0.997000|0.997000	0.91878|0.91878	6.695000|6.695000	0.74593|0.74593	1.377000|1.377000	0.46286|0.46286	0.557000|0.557000	0.71058|0.71058	GCA|TGC	WHSC1	-	NULL	ENSG00000109685		0.373	WHSC1-008	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1	HGNC	protein_coding	OTTHUMT00000366269.2	98	0.00	0	G	NM_133330		1941401	1941401	+1	no_errors	ENST00000382891	ensembl	human	known	69_37n	missense	53	53.91	62	SNP	1.000	A
XIRP2	129446	genome.wustl.edu	37	2	168106560	168106560	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr2:168106560G>C	ENST00000409195.1	+	9	8747	c.8658G>C	c.(8656-8658)ttG>ttC	p.L2886F	XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.L2664F|XIRP2_ENST00000295237.9_Missense_Mutation_p.L2886F|XIRP2_ENST00000409756.2_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2711					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						ATAAAAAATTGCCCCAGCCAT	0.373																																						dbGAP											0													73.0	70.0	71.0					2																	168106560		1839	4085	5924	-	-	-	SO:0001583	missense	0			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.8658G>C	2.37:g.168106560G>C	ENSP00000386840:p.Leu2886Phe		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.L2886F	ENST00000409195.1	37	c.8658	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	G	7.701	0.693102	0.15039	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273;ENST00000413534	T;T;T	0.02890	4.12;4.12;4.13	6.02	2.8	0.32819	.	0.868826	0.10376	N	0.682172	T	0.02929	0.0087	L	0.29908	0.895	0.09310	N	1	B;B;B	0.09022	0.001;0.002;0.002	B;B;B	0.13407	0.004;0.009;0.009	T	0.42616	-0.9441	10	0.39692	T	0.17	0.3835	8.4012	0.32588	0.1624:0.1339:0.7037:0.0	.	2711;2711;2664	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	F	2886;2886;2664;300	ENSP00000386840:L2886F;ENSP00000295237:L2886F;ENSP00000387255:L2664F	ENSP00000295237:L2886F	L	+	3	2	XIRP2	167814806	0.001000	0.12720	0.463000	0.27130	0.665000	0.39181	0.792000	0.26929	0.858000	0.35431	0.655000	0.94253	TTG	XIRP2	-	NULL	ENSG00000163092		0.373	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	112	0.00	0	G	NM_152381		168106560	168106560	+1	no_errors	ENST00000295237	ensembl	human	known	69_37n	missense	23	36.11	13	SNP	0.015	C
ZEB1	6935	genome.wustl.edu	37	10	31810284	31810284	+	Missense_Mutation	SNP	C	C	A			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr10:31810284C>A	ENST00000320985.10	+	7	2131	c.2021C>A	c.(2020-2022)aCa>aAa	p.T674K	ZEB1_ENST00000542815.3_Missense_Mutation_p.T607K|ZEB1_ENST00000560721.2_Missense_Mutation_p.T654K|ZEB1_ENST00000446923.2_Missense_Mutation_p.T658K|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000361642.5_Missense_Mutation_p.T675K			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	674					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CAGGACAGCACAGTAAATCTA	0.448																																					Ovarian(40;423 959 14296 36701 49589)	dbGAP											0													78.0	69.0	72.0					10																	31810284		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.2021C>A	10.37:g.31810284C>A	ENSP00000319248:p.Thr674Lys		B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2	p.T675K	ENST00000320985.10	37	c.2024	CCDS7169.1	10	.	.	.	.	.	.	.	.	.	.	C	5.832	0.337698	0.11013	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000543514;ENST00000446923	T;T;T;T;T	0.11604	3.07;2.76;2.81;2.76;2.81	5.34	2.34	0.29019	.	0.859911	0.10138	N	0.711174	T	0.10895	0.0266	L	0.44542	1.39	0.35121	D	0.767041	B;B;B;B;B;B;B;B	0.06786	0.0;0.0;0.0;0.0;0.0;0.001;0.0;0.0	B;B;B;B;B;B;B;B	0.11329	0.005;0.002;0.001;0.001;0.001;0.006;0.001;0.001	T	0.20974	-1.0259	10	0.17832	T	0.49	-7.5218	12.4938	0.55916	0.1174:0.6996:0.183:0.0	.	607;674;658;674;674;654;675;674	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	K	456;674;675;674;607;674;654;533;565;658	ENSP00000444282:T456K;ENSP00000354487:T675K;ENSP00000444891:T607K;ENSP00000319248:T674K;ENSP00000391612:T658K	ENSP00000319248:T674K	T	+	2	0	ZEB1	31850290	0.995000	0.38212	0.055000	0.19348	0.233000	0.25261	2.275000	0.43399	0.280000	0.22209	0.655000	0.94253	ACA	ZEB1	-	NULL	ENSG00000148516		0.448	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZEB1	HGNC	protein_coding	OTTHUMT00000419083.2	122	0.00	0	C	NM_030751		31810284	31810284	+1	no_errors	ENST00000361642	ensembl	human	known	69_37n	missense	161	27.35	61	SNP	0.952	A
ZEB2	9839	genome.wustl.edu	37	2	145187357	145187357	+	Missense_Mutation	SNP	G	G	T			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr2:145187357G>T	ENST00000558170.2	-	3	1494	c.310C>A	c.(310-312)Caa>Aaa	p.Q104K	ZEB2_ENST00000303660.4_Missense_Mutation_p.Q104K|ZEB2_ENST00000539609.3_Missense_Mutation_p.Q104K|ZEB2_ENST00000409487.3_Missense_Mutation_p.Q104K	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	104					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		ACAGAGGCTTGTAGAATCTCG	0.498																																					Melanoma(33;1235 1264 5755 16332)	dbGAP											0			GRCh37	CM087008	ZEB2	M							133.0	124.0	127.0					2																	145187357		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.310C>A	2.37:g.145187357G>T	ENSP00000454157:p.Gln104Lys		A0JP09|B7Z2P2|F5H814|Q9UED1	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Di19_RING_finger_144,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Y79*	ENST00000558170.2	37	c.237	CCDS2186.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.321|9.321	1.058100|1.058100	0.19987|0.19987	.|.	.|.	ENSG00000169554|ENSG00000169554	ENST00000392860;ENST00000539609;ENST00000303660;ENST00000409487;ENST00000427902;ENST00000392861;ENST00000409211|ENST00000419938;ENST00000431672;ENST00000440875	T;T;T;T;T;T|.	0.81163|.	-1.46;-1.46;-1.46;-1.46;-1.46;-1.46|.	5.7|5.7	5.7|5.7	0.88788|0.88788	.|.	0.227351|.	0.45867|.	D|.	0.000327|.	T|.	0.44477|.	0.1295|.	N|N	0.17082|0.17082	0.46|0.46	0.34707|0.34707	D|D	0.727327|0.727327	B;B;B;B;B|.	0.02656|.	0.0;0.0;0.0;0.0;0.0|.	B;B;B;B;B|.	0.04013|.	0.0;0.0;0.001;0.0;0.0|.	T|.	0.53358|.	-0.8450|.	10|.	0.15499|.	T|.	0.54|.	-5.8629|-5.8629	14.6535|14.6535	0.68814|0.68814	0.0:0.0:0.8546:0.1454|0.0:0.0:0.8546:0.1454	.|.	104;104;104;104;104|.	F5H814;B7Z2P2;E7ESP8;A0JP08;O60315|.	.;.;.;.;ZEB2_HUMAN|.	K|X	99;104;104;104;104;104;104|79;93;90	ENSP00000443792:Q104K;ENSP00000302501:Q104K;ENSP00000386854:Q104K;ENSP00000395496:Q104K;ENSP00000376601:Q104K;ENSP00000387256:Q104K|.	ENSP00000302501:Q104K|.	Q|Y	-|-	1|3	0|2	ZEB2|ZEB2	144903827|144903827	1.000000|1.000000	0.71417|0.71417	0.974000|0.974000	0.42286|0.42286	0.932000|0.932000	0.56968|0.56968	5.349000|5.349000	0.66010|0.66010	2.692000|2.692000	0.91855|0.91855	0.650000|0.650000	0.86243|0.86243	CAA|TAC	ZEB2	-	NULL	ENSG00000169554		0.498	ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZEB2	HGNC	protein_coding	OTTHUMT00000254778.5	169	0.59	1	G	NM_014795		145187357	145187357	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000419938	ensembl	human	putative	69_37n	nonsense	47	30.88	21	SNP	1.000	T
ZNF335	63925	genome.wustl.edu	37	20	44587919	44587919	+	Missense_Mutation	SNP	G	G	C			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr20:44587919G>C	ENST00000322927.2	-	15	2274	c.2174C>G	c.(2173-2175)tCt>tGt	p.S725C	ZNF335_ENST00000426788.1_Missense_Mutation_p.S570C	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	725					brain development (GO:0007420)|brain morphogenesis (GO:0048854)|cerebral cortex neuron differentiation (GO:0021895)|histone H3-K4 trimethylation (GO:0080182)|in utero embryonic development (GO:0001701)|neuron projection morphogenesis (GO:0048812)|positive regulation of lymphocyte proliferation (GO:0050671)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neurogenesis (GO:0050769)|regulation of gene expression, epigenetic (GO:0040029)|regulation of histone H3-K4 methylation (GO:0051569)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CTGCTGCAGAGAGAAGAAGGG	0.662																																						dbGAP											0													41.0	46.0	45.0					20																	44587919		2203	4299	6502	-	-	-	SO:0001583	missense	0			AK026157	CCDS13389.1	20q13.12	2011-09-12			ENSG00000198026	ENSG00000198026		"""Zinc fingers, C2H2-type"""	15807	protein-coding gene	gene with protein product	"""NRC-interacting factor 1"""	610827				12215545, 19131338	Standard	NM_022095		Approved	bA465L10.2, NIF-1	uc002xqw.3	Q9H4Z2	OTTHUMG00000032637	ENST00000322927.2:c.2174C>G	20.37:g.44587919G>C	ENSP00000325326:p.Ser725Cys		B4DLG7|Q548D0|Q9H684	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S725C	ENST00000322927.2	37	c.2174	CCDS13389.1	20	.	.	.	.	.	.	.	.	.	.	G	21.6	4.175704	0.78564	.	.	ENSG00000198026	ENST00000322927;ENST00000243961;ENST00000426788	T;T	0.10382	3.01;2.88	4.91	4.91	0.64330	.	0.209108	0.40554	N	0.001078	T	0.20981	0.0505	L	0.29908	0.895	0.40886	D	0.984038	D;D	0.76494	0.999;0.998	D;P	0.63192	0.912;0.818	T	0.01330	-1.1383	10	0.56958	D	0.05	-10.424	17.2648	0.87083	0.0:0.0:1.0:0.0	.	570;725	Q9H4Z2-2;Q9H4Z2	.;ZN335_HUMAN	C	725;502;570	ENSP00000325326:S725C;ENSP00000397098:S570C	ENSP00000243961:S502C	S	-	2	0	ZNF335	44021326	1.000000	0.71417	0.993000	0.49108	0.992000	0.81027	7.220000	0.78008	2.536000	0.85505	0.561000	0.74099	TCT	ZNF335	-	NULL	ENSG00000198026		0.662	ZNF335-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF335	HGNC	protein_coding	OTTHUMT00000079553.1	29	0.00	0	G	NM_022095		44587919	44587919	-1	no_errors	ENST00000322927	ensembl	human	known	69_37n	missense	23	42.50	17	SNP	0.998	C
ZNF595	152687	genome.wustl.edu	37	4	87098	87098	+	3'UTR	SNP	A	A	C			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr4:87098A>C	ENST00000339368.6	+	0	1907							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						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(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		AATGCAAAGAATGTGGCAAAG	0.393																																						dbGAP											0													39.0	45.0	43.0					4																	87098		2149	4260	6409	-	-	-	SO:0001624	3_prime_UTR_variant	0			BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*1904A>C	4.37:g.87098A>C				RNA	SNP	-	NULL	ENST00000339368.6	37	NULL		4																																																																																			ZNF595	-	-	ENSG00000197701		0.393	ZNF595-001	KNOWN	basic	processed_transcript	ZNF595	HGNC	protein_coding	OTTHUMT00000357814.2	47	0.00	0	A	NM_182524		87098	87098	+1	no_errors	ENST00000339368	ensembl	human	known	69_37n	rna	19	65.45	36	SNP	0.159	C
ZNF595	152687	genome.wustl.edu	37	4	87135	87135	+	3'UTR	SNP	A	A	T			TCGA-B6-A0I6-01A-11D-A128-09	TCGA-B6-A0I6-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	a876398c-5b1d-444f-a360-5fe2db697480	b4a473ab-e3f9-4827-b4fc-30038f3cf711	g.chr4:87135A>T	ENST00000339368.6	+	0	1944							Q8IYB9	ZN595_HUMAN	zinc finger protein 595						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(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		AACCCTTACTAAACATAAGAG	0.383																																						dbGAP											0													36.0	40.0	39.0					4																	87135		2148	4266	6414	-	-	-	SO:0001624	3_prime_UTR_variant	0			BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000339368.6:c.*1941A>T	4.37:g.87135A>T				RNA	SNP	-	NULL	ENST00000339368.6	37	NULL		4																																																																																			ZNF595	-	-	ENSG00000197701		0.383	ZNF595-001	KNOWN	basic	processed_transcript	ZNF595	HGNC	protein_coding	OTTHUMT00000357814.2	37	0.00	0	A	NM_182524		87135	87135	+1	no_errors	ENST00000339368	ensembl	human	known	69_37n	rna	11	76.09	35	SNP	0.196	T
