#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_ORegAnno_bin	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
A2ML1	144568	genome.wustl.edu	37	12	8997932	8997932	+	3'UTR	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr12:8997932G>A	ENST00000540049.1	+	0	54				A2ML1_ENST00000299698.7_Intron|A2ML1_ENST00000539547.1_Intron					alpha-2-macroglobulin-like 1											NS(2)|breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(2)|lung(36)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	80						TCTGAACTGTGAAAGGAACCT	0.498																																																	0																																										SO:0001624	3_prime_UTR_variant	144568			AK057908	CCDS8596.2, CCDS73439.1	12p13	2010-12-14	2005-09-01	2005-09-01	ENSG00000166535	ENSG00000166535			23336	protein-coding gene	gene with protein product		610627	"""C3 and PZP-like, alpha-2-macroglobulin domain containing 9"""	CPAMD9		16298998	Standard	NM_144670		Approved	FLJ25179	uc001quz.5	A8K2U0	OTTHUMG00000128499	ENST00000540049.1:c.*51G>A	12.37:g.8997932G>A				RNA	SNP	-	NULL	ENST00000540049.1	37	NULL		12																																																																																			A2ML1	-	-		0.498	A2ML1-010	KNOWN	upstream_uORF|basic	processed_transcript	A2ML1	HGNC	protein_coding	OTTHUMT00000395960.1	G	NM_144670		8997932	+1	no_errors	ENST00000540049	ensembl	human	known	70_37	rna	SNP	0.000	A
ABCG5	64240	genome.wustl.edu	37	2	44051360	44051360	+	Silent	SNP	C	C	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr2:44051360C>A	ENST00000260645.1	-	8	1255	c.1116G>T	c.(1114-1116)ctG>ctT	p.L372L	ABCG5_ENST00000405322.1_Silent_p.L201L|ABCG5_ENST00000543989.1_Intron	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	372					ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|excretion (GO:0007588)|intestinal cholesterol absorption (GO:0030299)|negative regulation of intestinal cholesterol absorption (GO:0045796)|negative regulation of intestinal phytosterol absorption (GO:0010949)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|sterol transport (GO:0015918)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|cholesterol transporter activity (GO:0017127)|protein heterodimerization activity (GO:0046982)			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)			Ezetimibe(DB00973)	CCTCTTACCTCAGGAGAACAC	0.383																																																	0													84.0	86.0	85.0					2																	44051360		2203	4300	6503	SO:0001819	synonymous_variant	64240			T93792	CCDS1814.1	2p21	2012-03-14	2008-07-31		ENSG00000138075	ENSG00000138075		"""ATP binding cassette transporters / subfamily G"""	13886	protein-coding gene	gene with protein product	"""sterolin 1"""	605459				11099417, 11452359	Standard	NM_022436		Approved	STSL	uc002rtn.3	Q9H222	OTTHUMG00000128758	ENST00000260645.1:c.1116G>T	2.37:g.44051360C>A			Q2T9G2|Q96QZ2|Q96QZ3	Silent	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L372	ENST00000260645.1	37	c.1116	CCDS1814.1	2																																																																																			ABCG5	-	pfam_ABC_2_trans		0.383	ABCG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG5	HGNC	protein_coding	OTTHUMT00000250675.1	C	NM_022436		44051360	-1	no_errors	ENST00000260645	ensembl	human	known	70_37	silent	SNP	0.996	A
ACSM1	116285	genome.wustl.edu	37	16	20682933	20682933	+	Silent	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr16:20682933G>A	ENST00000307493.4	-	4	739	c.672C>T	c.(670-672)ttC>ttT	p.F224F	ACSM1_ENST00000520010.1_Silent_p.F224F|ACSM1_ENST00000219151.4_5'UTR	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	224					benzoate metabolic process (GO:0018874)|butyrate metabolic process (GO:0019605)|cholesterol homeostasis (GO:0042632)|energy derivation by oxidation of organic compounds (GO:0015980)|fatty acid biosynthetic process (GO:0006633)|fatty acid oxidation (GO:0019395)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	blood microparticle (GO:0072562)|extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	acyl-CoA ligase activity (GO:0003996)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CACTGGTGAAGAAGATGACCA	0.502																																																	0													132.0	110.0	117.0					16																	20682933		2201	4300	6501	SO:0001819	synonymous_variant	116285			AB059429	CCDS10587.1	16p12.3	2008-02-05	2005-09-08	2005-09-08	ENSG00000166743	ENSG00000166743	6.2.1.2	"""Acyl-CoA synthetase family"""	18049	protein-coding gene	gene with protein product		614357	"""butyryl Coenzyme A synthetase 1"""	BUCS1		11470804, 12654705	Standard	NM_052956		Approved	MACS1	uc002dhm.1	Q08AH1	OTTHUMG00000131550	ENST00000307493.4:c.672C>T	16.37:g.20682933G>A			Q08AH2|Q96A20	Silent	SNP	pfam_AMP-dep_Synth/Lig	p.F224	ENST00000307493.4	37	c.672	CCDS10587.1	16																																																																																			ACSM1	-	pfam_AMP-dep_Synth/Lig		0.502	ACSM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM1	HGNC	protein_coding	OTTHUMT00000254412.1	G	NM_052956		20682933	-1	no_errors	ENST00000307493	ensembl	human	known	70_37	silent	SNP	1.000	A
ADA	100	genome.wustl.edu	37	20	43248486	43248486	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr20:43248486G>A	ENST00000372874.4	-	12	1215	c.1081C>T	c.(1081-1083)Cag>Tag	p.Q361*	PKIG_ENST00000372887.1_Intron|PKIG_ENST00000372882.3_Intron|ADA_ENST00000464097.1_5'UTR|Z97053.1_ENST00000597250.1_5'Flank|ADA_ENST00000537820.1_Nonsense_Mutation_p.Q337*	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	361					adenosine catabolic process (GO:0006154)|aging (GO:0007568)|cell adhesion (GO:0007155)|dATP catabolic process (GO:0046061)|deoxyadenosine catabolic process (GO:0006157)|embryonic digestive tract development (GO:0048566)|germinal center B cell differentiation (GO:0002314)|histamine secretion (GO:0001821)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|negative regulation of adenosine receptor signaling pathway (GO:0060169)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of mucus secretion (GO:0070256)|negative regulation of penile erection (GO:0060407)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleobase-containing small molecule metabolic process (GO:0055086)|Peyer's patch development (GO:0048541)|placenta development (GO:0001890)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of germinal center formation (GO:0002636)|positive regulation of heart rate (GO:0010460)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide salvage (GO:0032261)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|purine-containing compound salvage (GO:0043101)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to morphine (GO:0043278)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|trophectodermal cell differentiation (GO:0001829)|xanthine biosynthetic process (GO:0046111)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|lysosome (GO:0005764)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenosine deaminase activity (GO:0004000)|purine nucleoside binding (GO:0001883)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Dipyridamole(DB00975)|Edetic Acid(DB00974)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	CAGAGGTTCTGCCCTGCTCGT	0.473									Adenosine Deaminase Deficiency																																								0													89.0	78.0	82.0					20																	43248486		2203	4300	6503	SO:0001587	stop_gained	100	Familial Cancer Database	Severe Combined Immunodeficiency (SCID) due to ADA-deficiency	X02994	CCDS13335.1	20q13.12	2014-09-17			ENSG00000196839	ENSG00000196839	3.5.4.4		186	protein-coding gene	gene with protein product		608958				6198240, 6090454	Standard	NM_000022		Approved		uc002xmj.3	P00813	OTTHUMG00000033081	ENST00000372874.4:c.1081C>T	20.37:g.43248486G>A	ENSP00000361965:p.Gln361*		Q53F92|Q6LA59	Nonsense_Mutation	SNP	pfam_A/AMP_deaminase_dom,tigrfam_Ado/ade_deaminase	p.Q361*	ENST00000372874.4	37	c.1081	CCDS13335.1	20	.	.	.	.	.	.	.	.	.	.	G	12.77	2.036683	0.35893	.	.	ENSG00000196839	ENST00000372874;ENST00000537820	.	.	.	3.97	3.0	0.34707	.	0.748339	0.11583	N	0.549529	.	.	.	.	.	.	0.31819	N	0.626283	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-13.9415	8.8792	0.35365	0.0:0.0:0.7523:0.2477	.	.	.	.	X	361;337	.	ENSP00000361965:Q361X	Q	-	1	0	ADA	42681900	0.001000	0.12720	0.896000	0.35187	0.024000	0.10985	0.026000	0.13599	1.213000	0.43380	-0.274000	0.10170	CAG	ADA	-	NULL		0.473	ADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADA	HGNC	protein_coding	OTTHUMT00000080509.2	G	NM_000022		43248486	-1	no_errors	ENST00000372874	ensembl	human	known	70_37	nonsense	SNP	0.892	A
ADCY4	196883	genome.wustl.edu	37	14	24798648	24798648	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr14:24798648G>A	ENST00000310677.4	-	10	1422	c.1309C>T	c.(1309-1311)Cgg>Tgg	p.R437W	ADCY4_ENST00000554068.2_Missense_Mutation_p.R437W|ADCY4_ENST00000396747.3_Missense_Mutation_p.R130W|ADCY4_ENST00000418030.2_Missense_Mutation_p.R437W	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	437					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CCTAGCTCCCGAAGGTAGGGG	0.627																																																	0													66.0	67.0	67.0					14																	24798648		2203	4300	6503	SO:0001583	missense	196883			AF497516	CCDS9627.1	14q11.2	2013-02-04			ENSG00000129467	ENSG00000129467	4.6.1.1	"""Adenylate cyclases"""	235	protein-coding gene	gene with protein product		600292				7766992	Standard	NM_001198592		Approved	AC4	uc001woy.3	Q8NFM4	OTTHUMG00000029347	ENST00000310677.4:c.1309C>T	14.37:g.24798648G>A	ENSP00000312126:p.Arg437Trp		B3KV74|D3DS75|Q17R40|Q6ZTM6|Q96ML7	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.R437W	ENST00000310677.4	37	c.1309	CCDS9627.1	14	.	.	.	.	.	.	.	.	.	.	G	19.89	3.910424	0.72983	.	.	ENSG00000129467	ENST00000310677;ENST00000554068;ENST00000418030;ENST00000396747	T;T;T;T	0.80123	-1.15;-1.15;-1.15;-1.34	5.13	4.23	0.50019	Adenylyl cyclase class-3/4/guanylyl cyclase (3);	0.000000	0.41500	D	0.000861	D	0.84727	0.5536	L	0.57536	1.79	0.40001	D	0.975167	D	0.60160	0.987	P	0.61003	0.882	D	0.86157	0.1591	10	0.87932	D	0	.	10.5957	0.45336	0.0:0.0:0.6492:0.3508	.	437	Q8NFM4	ADCY4_HUMAN	W	437;437;437;130	ENSP00000312126:R437W;ENSP00000452250:R437W;ENSP00000393177:R437W;ENSP00000379971:R130W	ENSP00000312126:R437W	R	-	1	2	ADCY4	23868488	0.999000	0.42202	1.000000	0.80357	0.982000	0.71751	3.102000	0.50291	1.369000	0.46134	0.655000	0.94253	CGG	ADCY4	-	pfam_A/G_cyclase,superfamily_A/G_cyclase		0.627	ADCY4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY4	HGNC	protein_coding	OTTHUMT00000073200.4	G			24798648	-1	no_errors	ENST00000310677	ensembl	human	known	70_37	missense	SNP	0.997	A
ADCY8	114	genome.wustl.edu	37	8	132051626	132051626	+	Silent	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr8:132051626G>A	ENST00000286355.5	-	1	3046	c.954C>T	c.(952-954)atC>atT	p.I318I	ADCY8_ENST00000377928.3_Silent_p.I318I	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	318					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			TTACCTGGTTGATGGAAATGA	0.587										HNSCC(32;0.087)																																							0													46.0	57.0	53.0					8																	132051626		2202	4300	6502	SO:0001819	synonymous_variant	114			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.954C>T	8.37:g.132051626G>A				Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.I318	ENST00000286355.5	37	c.954	CCDS6363.1	8																																																																																			ADCY8	-	NULL		0.587	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	G			132051626	-1	no_errors	ENST00000286355	ensembl	human	known	70_37	silent	SNP	1.000	A
HYKK	123688	genome.wustl.edu	37	15	78825706	78825706	+	Silent	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr15:78825706C>T	ENST00000569878.1	+	4	816	c.816C>T	c.(814-816)taC>taT	p.Y272Y	HYKK_ENST00000563233.1_Intron|HYKK_ENST00000388988.4_Silent_p.Y272Y|HYKK_ENST00000408962.2_Intron			A2RU49	HYKK_HUMAN	hydroxylysine kinase	272						cytoplasm (GO:0005737)	hydroxylysine kinase activity (GO:0047992)										CCATCATGTACATGATGATTG	0.448																																																	0													137.0	124.0	128.0					15																	78825706		1981	4163	6144	SO:0001819	synonymous_variant	123688			BC132753, BC144383, BM045979	CCDS42063.1, CCDS45318.1	15q25.1	2013-06-11	2013-06-11	2013-06-11	ENSG00000188266	ENSG00000188266	2.7.1.81		34403	protein-coding gene	gene with protein product	"""5-hydroxylysine kinase"""	614681	"""aminoglycoside phosphotransferase domain containing 1"""	AGPHD1		18780872, 22241472	Standard	NM_001013619		Approved	LOC123688	uc010unc.2	A2RU49		ENST00000569878.1:c.816C>T	15.37:g.78825706C>T			B7ZMA5|F8W6X5|Q6ZTN0	Silent	SNP	pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom	p.Y272	ENST00000569878.1	37	c.816	CCDS42063.1	15																																																																																			AGPHD1	-	pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom		0.448	HYKK-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	AGPHD1	HGNC	protein_coding	OTTHUMT00000435834.1	C	NM_001013619		78825706	+1	no_errors	ENST00000388988	ensembl	human	known	70_37	silent	SNP	1.000	T
AKAP10	11216	genome.wustl.edu	37	17	19835207	19835207	+	Missense_Mutation	SNP	G	G	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr17:19835207G>T	ENST00000225737.6	-	10	1709	c.1552C>A	c.(1552-1554)Ctg>Atg	p.L518M	RP11-209D14.4_ENST00000583067.1_RNA|AKAP10_ENST00000395536.3_Intron	NM_007202.3	NP_009133.2	O43572	AKA10_HUMAN	A kinase (PRKA) anchor protein 10	518					blood coagulation (GO:0007596)|protein localization (GO:0008104)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	21	all_cancers(12;2.08e-05)|all_epithelial(12;0.00158)|Breast(13;0.165)					TTCCCGCCCAGAAATTCATCT	0.468																																																	0													79.0	79.0	79.0					17																	19835207		2203	4300	6503	SO:0001583	missense	11216			AF037439	CCDS11214.1	17p11.1	2008-07-18			ENSG00000108599	ENSG00000108599		"""A-kinase anchor proteins"""	368	protein-coding gene	gene with protein product	"""dual-specificity A-kinase anchoring protein 2"", ""protein kinase A anchoring protein 10"", ""mitochondrial A kinase PPKA anchor protein 10"""	604694				9326583	Standard	NM_007202		Approved	D-AKAP2, PRKA10, MGC9414	uc002gwo.4	O43572	OTTHUMG00000059515	ENST00000225737.6:c.1552C>A	17.37:g.19835207G>T	ENSP00000225737:p.Leu518Met		B2R650|Q96AJ7	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	p.L518M	ENST00000225737.6	37	c.1552	CCDS11214.1	17	.	.	.	.	.	.	.	.	.	.	G	10.08	1.252235	0.22880	.	.	ENSG00000108599	ENST00000225737	T	0.33654	1.4	5.78	4.76	0.60689	.	0.565214	0.16704	N	0.202997	T	0.31389	0.0795	L	0.36672	1.1	0.29303	N	0.868588	B	0.12013	0.005	B	0.04013	0.001	T	0.12344	-1.0551	10	0.44086	T	0.13	0.0462	15.501	0.75698	0.0:0.1383:0.8617:0.0	.	518	O43572	AKA10_HUMAN	M	518	ENSP00000225737:L518M	ENSP00000225737:L518M	L	-	1	2	AKAP10	19775799	1.000000	0.71417	0.982000	0.44146	0.530000	0.34684	1.944000	0.40263	2.761000	0.94854	0.644000	0.83932	CTG	AKAP10	-	NULL		0.468	AKAP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP10	HGNC	protein_coding	OTTHUMT00000132380.2	G	NM_007202		19835207	-1	no_errors	ENST00000225737	ensembl	human	known	70_37	missense	SNP	0.994	T
ALAD	210	genome.wustl.edu	37	9	116151721	116151721	+	Missense_Mutation	SNP	G	G	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr9:116151721G>C	ENST00000409155.3	-	10	994	c.798C>G	c.(796-798)gaC>gaG	p.D266E	ALAD_ENST00000277315.5_Missense_Mutation_p.D249E|ALAD_ENST00000482001.1_5'Flank	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	266					cellular response to interleukin-4 (GO:0071353)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protein homooligomerization (GO:0051260)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|identical protein binding (GO:0042802)|lead ion binding (GO:0032791)|porphobilinogen synthase activity (GO:0004655)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	TGCTCACCTTGTCCTTTACCT	0.562																																																	0													115.0	113.0	114.0					9																	116151721		2203	4300	6503	SO:0001583	missense	210			M13928	CCDS6794.2	9q32	2010-04-29	2010-04-29		ENSG00000148218	ENSG00000148218	4.2.1.24		395	protein-coding gene	gene with protein product	"""porphobilinogen synthase"""	125270	"""aminolevulinate, delta-, dehydratase"""			6839527, 6378062	Standard	NM_000031		Approved	ALADH, PBGS	uc011lxf.2	P13716	OTTHUMG00000020522	ENST00000409155.3:c.798C>G	9.37:g.116151721G>C	ENSP00000386284:p.Asp266Glu		A8K375|B2R6F2|Q16870|Q16871|Q9BVQ9	Missense_Mutation	SNP	pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth,prints_Porphobilinogen_synth	p.D266E	ENST00000409155.3	37	c.798	CCDS6794.2	9	.	.	.	.	.	.	.	.	.	.	G	5.665	0.307312	0.10733	.	.	ENSG00000148218	ENST00000409155;ENST00000277315	D;D	0.86432	-2.12;-2.12	5.56	3.73	0.42828	Aldolase-type TIM barrel (1);	0.547984	0.22801	N	0.055461	T	0.71745	0.3376	N	0.25286	0.73	0.43907	D	0.996546	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.06405	0.0;0.001;0.002	T	0.59810	-0.7384	10	0.07175	T	0.84	-0.0044	4.1595	0.10277	0.2464:0.182:0.5716:0.0	.	266;249;295	P13716;B7Z3I9;P13716-2	HEM2_HUMAN;.;.	E	266;249	ENSP00000386284:D266E;ENSP00000277315:D249E	ENSP00000277315:D249E	D	-	3	2	ALAD	115191542	1.000000	0.71417	0.993000	0.49108	0.566000	0.35808	3.108000	0.50337	1.345000	0.45676	-0.136000	0.14681	GAC	ALAD	-	pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth		0.562	ALAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALAD	HGNC	protein_coding	OTTHUMT00000053724.3	G	NM_001003945		116151721	-1	no_errors	ENST00000409155	ensembl	human	known	70_37	missense	SNP	1.000	C
ALKBH5	54890	genome.wustl.edu	37	17	18098344	18098344	+	Silent	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr17:18098344C>T	ENST00000399138.4	+	2	851	c.846C>T	c.(844-846)ctC>ctT	p.L282L	ALKBH5_ENST00000541285.1_5'UTR	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	AlkB family member 5, RNA demethylase	282					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|oxidative single-stranded RNA demethylation (GO:0035553)|response to hypoxia (GO:0001666)|spermatogenesis (GO:0007283)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidative RNA demethylase activity (GO:0035515)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					TCATCATCCTCAGGAAGTAAG	0.498																																					Ovarian(166;154 1953 40235 46283 46309)												0													108.0	101.0	103.0					17																	18098344		2062	4209	6271	SO:0001819	synonymous_variant	54890			AK000315	CCDS42272.1	17p11.2	2014-07-23	2014-07-23	2006-02-09	ENSG00000091542	ENSG00000091542	1.14.11.-	"""Alkylation repair homologs"""	25996	protein-coding gene	gene with protein product		613303	"""oxoglutarate and iron-dependent oxygenase domain containing"", ""alkB, alkylation repair homolog 5 (E. coli)"""	OFOXD1		11997338, 24778178	Standard	NM_017758		Approved	FLJ20308	uc010cpw.3	Q6P6C2	OTTHUMG00000059397	ENST00000399138.4:c.846C>T	17.37:g.18098344C>T			B4DVJ4|D3DXC6|Q9NXD6	Silent	SNP	NULL	p.L282	ENST00000399138.4	37	c.846	CCDS42272.1	17																																																																																			ALKBH5	-	NULL		0.498	ALKBH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALKBH5	HGNC	protein_coding	OTTHUMT00000132069.3	C	NM_017758		18098344	+1	no_errors	ENST00000399138	ensembl	human	known	70_37	silent	SNP	0.986	T
ANP32B	10541	genome.wustl.edu	37	9	100760874	100760874	+	Missense_Mutation	SNP	G	G	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr9:100760874G>C	ENST00000339399.4	+	3	436	c.241G>C	c.(241-243)Gac>Cac	p.D81H	ANP32B_ENST00000473205.1_3'UTR	NM_006401.2	NP_006392.1	Q92688	AN32B_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member B	81					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|inner ear development (GO:0048839)|negative regulation of cell differentiation (GO:0045596)|nucleosome assembly (GO:0006334)|palate development (GO:0060021)|positive regulation of protein export from nucleus (GO:0046827)|vasculature development (GO:0001944)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	histone binding (GO:0042393)|RNA polymerase binding (GO:0070063)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	6		Acute lymphoblastic leukemia(62;0.0559)				TGGAGGTCTGGACATGTTAGC	0.363																																																	0													116.0	114.0	115.0					9																	100760874		2203	4300	6503	SO:0001583	missense	10541			Y07969	CCDS6732.1	9q22.32	2010-06-17			ENSG00000136938	ENSG00000136938		"""ANP32 acidic nuclear phosphoproteins"""	16677	protein-coding gene	gene with protein product	"""acidic protein rich in leucines"""					9285060, 9473664	Standard	NM_006401		Approved	SSP29, PHAPI2, APRIL	uc004aya.3	Q92688	OTTHUMG00000020338	ENST00000339399.4:c.241G>C	9.37:g.100760874G>C	ENSP00000345848:p.Asp81His		B2R9C7|O00655|P78458|P78459	Missense_Mutation	SNP	smart_U2A'_phosphoprotein32A_C	p.D81H	ENST00000339399.4	37	c.241	CCDS6732.1	9	.	.	.	.	.	.	.	.	.	.	G	22.4	4.285426	0.80803	.	.	ENSG00000136938	ENST00000339399	T	0.55930	0.49	5.13	5.13	0.70059	.	0.000000	0.85682	D	0.000000	T	0.72566	0.3476	M	0.81497	2.545	0.80722	D	1	D	0.63880	0.993	P	0.61940	0.896	T	0.75130	-0.3426	10	0.56958	D	0.05	-15.4993	18.2294	0.89929	0.0:0.0:1.0:0.0	.	81	Q92688	AN32B_HUMAN	H	81	ENSP00000345848:D81H	ENSP00000345848:D81H	D	+	1	0	ANP32B	99800695	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	9.420000	0.97426	2.777000	0.95525	0.655000	0.94253	GAC	ANP32B	-	NULL		0.363	ANP32B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANP32B	HGNC	protein_coding	OTTHUMT00000053346.4	G	NM_006401		100760874	+1	no_errors	ENST00000339399	ensembl	human	known	70_37	missense	SNP	1.000	C
AOAH	313	genome.wustl.edu	37	7	36729774	36729774	+	Intron	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr7:36729774C>T	ENST00000258749.5	-	2	527				AOAH_ENST00000535891.1_Intron|AOAH_ENST00000431169.1_Intron	NM_001637.3	NP_001628.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)						inflammatory response (GO:0006954)|lipid metabolic process (GO:0006629)|lipopolysaccharide metabolic process (GO:0008653)|negative regulation of inflammatory response (GO:0050728)	extracellular region (GO:0005576)	acyloxyacyl hydrolase activity (GO:0050528)|catalytic activity (GO:0003824)|lipoprotein lipase activity (GO:0004465)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TGTGGCTTCTCAGCACTGCTG	0.398																																																	0																																										SO:0001627	intron_variant	313			BC025698	CCDS5448.1, CCDS55102.1, CCDS75584.1	7p14-p12	2014-03-14			ENSG00000136250	ENSG00000136250	3.1.1.77		548	protein-coding gene	gene with protein product		102593				1883828	Standard	NM_001637		Approved		uc022abu.1	P28039	OTTHUMG00000023566	ENST00000258749.5:c.128-3375G>A	7.37:g.36729774C>T			A4D1Y5|B7Z490|Q53F13	Missense_Mutation	SNP	NULL	p.E47K	ENST00000258749.5	37	c.139	CCDS5448.1	7																																																																																			AOAH	-	NULL		0.398	AOAH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AOAH	HGNC	protein_coding	OTTHUMT00000219829.2	C	NM_001637		36729774	-1	no_errors	ENST00000414637	ensembl	human	known	70_37	missense	SNP	0.000	T
AP3B2	8120	genome.wustl.edu	37	15	83331647	83331647	+	Missense_Mutation	SNP	G	G	A	rs201234574		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr15:83331647G>A	ENST00000261722.3	-	22	2782	c.2575C>T	c.(2575-2577)Cgg>Tgg	p.R859W	AP3B2_ENST00000535359.1_Missense_Mutation_p.R878W|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Missense_Mutation_p.R827W	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	859					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			AGCTCCTGCCGCCCAACACCC	0.617																																																	0													23.0	28.0	27.0					15																	83331647		2055	4190	6245	SO:0001583	missense	8120			U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.2575C>T	15.37:g.83331647G>A	ENSP00000261722:p.Arg859Trp		A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta	p.R859W	ENST00000261722.3	37	c.2575	CCDS45331.1	15	.	.	.	.	.	.	.	.	.	.	G	16.51	3.143656	0.57044	.	.	ENSG00000103723	ENST00000261722;ENST00000535348;ENST00000535359	T;T;T	0.56103	0.48;0.48;0.48	6.04	0.992	0.19819	Coatomer/clathrin adaptor appendage, Ig-like subdomain (1);	0.256580	0.41001	D	0.000976	T	0.59321	0.2185	L	0.38175	1.15	0.38189	D	0.939859	D;D;D	0.76494	0.999;0.997;0.997	D;P;P	0.63597	0.916;0.649;0.649	T	0.60188	-0.7312	10	0.38643	T	0.18	-35.0635	16.8003	0.85612	0.0:0.0:0.6329:0.3671	.	827;878;859	B7ZKR7;B7ZKS0;Q13367	.;.;AP3B2_HUMAN	W	859;827;878	ENSP00000261722:R859W;ENSP00000438721:R827W;ENSP00000440984:R878W	ENSP00000261722:R859W	R	-	1	2	AP3B2	81128702	1.000000	0.71417	0.031000	0.17742	0.685000	0.39939	1.523000	0.35932	-0.075000	0.12798	0.563000	0.77884	CGG	AP3B2	-	superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta		0.617	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B2	HGNC	protein_coding	OTTHUMT00000397463.1	G			83331647	-1	no_errors	ENST00000261722	ensembl	human	known	70_37	missense	SNP	0.272	A
APAF1	317	genome.wustl.edu	37	12	99042547	99042547	+	Silent	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr12:99042547C>T	ENST00000551964.1	+	3	1018	c.282C>T	c.(280-282)gtC>gtT	p.V94V	APAF1_ENST00000549007.1_Silent_p.V94V|APAF1_ENST00000333991.1_Silent_p.V94V|APAF1_ENST00000339433.3_Silent_p.V94V|APAF1_ENST00000357310.1_Silent_p.V94V|APAF1_ENST00000552268.1_Silent_p.V94V|APAF1_ENST00000547045.1_Silent_p.V94V|APAF1_ENST00000550527.1_Silent_p.V94V|APAF1_ENST00000547743.1_Silent_p.V94V|APAF1_ENST00000359972.2_Silent_p.V94V	NM_181861.1	NP_863651.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	94					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|forebrain development (GO:0030900)|intrinsic apoptotic signaling pathway (GO:0097193)|nervous system development (GO:0007399)|neural tube closure (GO:0001843)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|regulation of apoptotic DNA fragmentation (GO:1902510)|regulation of apoptotic process (GO:0042981)|response to G1 DNA damage checkpoint signaling (GO:0072432)	apoptosome (GO:0043293)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|nucleotide binding (GO:0000166)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	TTCCTGTTGTCTCTTCTTCCA	0.358																																																	0													204.0	201.0	202.0					12																	99042547		2203	4300	6503	SO:0001819	synonymous_variant	317			AF013263	CCDS9069.1, CCDS9070.1, CCDS9071.1, CCDS55862.1, CCDS55863.1	12q23	2013-01-10	2006-10-23			ENSG00000120868		"""WD repeat domain containing"""	576	protein-coding gene	gene with protein product		602233	"""apoptotic protease activating factor"", ""apoptotic peptidase activating factor"""			9267021, 10702682	Standard	NM_181861		Approved	CED4, APAF-1	uc001tfz.3	O14727	OTTHUMG00000170214	ENST00000551964.1:c.282C>T	12.37:g.99042547C>T			B2RMX8|O43297|Q7Z438|Q9BXZ6|Q9UBZ5|Q9UGN8|Q9UGN9|Q9UGP0|Q9UJ58|Q9UJ59|Q9UJ60|Q9UJ61|Q9UJ62|Q9UJ63|Q9UJ64|Q9UJ65|Q9UJ66|Q9UJ67|Q9UNC9	Silent	SNP	pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep	p.V94	ENST00000551964.1	37	c.282	CCDS9069.1	12																																																																																			APAF1	-	pirsf_Apoptotic_pept-activating_1		0.358	APAF1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APAF1	HGNC	protein_coding	OTTHUMT00000408006.1	C	NM_181861.1		99042547	+1	no_errors	ENST00000551964	ensembl	human	known	70_37	silent	SNP	0.006	T
APOL2	23780	genome.wustl.edu	37	22	36633327	36633327	+	Intron	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr22:36633327C>T	ENST00000249066.6	-	2	344				APOL2_ENST00000451256.2_Intron|APOL2_ENST00000358502.5_Intron|APOL2_ENST00000476579.1_5'UTR	NM_145637.1	NP_663612.1	Q9BQE5	APOL2_HUMAN	apolipoprotein L, 2						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						CCTCCCACCTCAGCTCTGAGC	0.587																																																	0																																										SO:0001627	intron_variant	23780			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.132+2159G>A	22.37:g.36633327C>T			B0QYK7|O95915|Q59GW9|Q5TH96|Q969T6|Q9BT28|Q9UGT1|Q9UH10	RNA	SNP	-	NULL	ENST00000249066.6	37	NULL	CCDS43014.1	22																																																																																			APOL2	-	-		0.587	APOL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	APOL2	HGNC	protein_coding	OTTHUMT00000319279.1	C	NM_145637		36633327	-1	no_errors	ENST00000473549	ensembl	human	known	70_37	rna	SNP	0.005	T
ARHGAP18	93663	genome.wustl.edu	37	6	129950525	129950525	+	Silent	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:129950525C>T	ENST00000368149.2	-	5	847	c.759G>A	c.(757-759)aaG>aaA	p.K253K		NM_033515.2	NP_277050.2			Rho GTPase activating protein 18											NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		CGCCTTTGCTCTTCTGGATTT	0.408																																																	0													130.0	128.0	128.0					6																	129950525		2203	4300	6503	SO:0001819	synonymous_variant	93663			AB053293	CCDS34535.1	6q23.1	2011-06-29			ENSG00000146376	ENSG00000146376		"""Rho GTPase activating proteins"""	21035	protein-coding gene	gene with protein product		613351					Standard	NM_033515		Approved	MacGAP, bA307O14.2	uc003qbr.3	Q8N392	OTTHUMG00000015547	ENST00000368149.2:c.759G>A	6.37:g.129950525C>T				Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.K253	ENST00000368149.2	37	c.759	CCDS34535.1	6																																																																																			ARHGAP18	-	NULL		0.408	ARHGAP18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP18	HGNC	protein_coding	OTTHUMT00000042185.2	C	NM_033515		129950525	-1	no_errors	ENST00000275189	ensembl	human	known	70_37	silent	SNP	0.002	T
ARL13A	392509	genome.wustl.edu	37	X	100245555	100245555	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chrX:100245555C>G	ENST00000450049.2	+	8	862	c.749C>G	c.(748-750)tCa>tGa	p.S250*		NM_001162491.1	NP_001155963.1	Q5H913	AR13A_HUMAN	ADP-ribosylation factor-like 13A	0					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(1)|ovary(1)	2						TTCTAGCCATCAAATCAATCC	0.393																																																	0													173.0	133.0	145.0					X																	100245555		692	1591	2283	SO:0001587	stop_gained	392509				CCDS55463.1	Xq22.1	2014-05-09	2005-11-18	2005-11-18	ENSG00000174225	ENSG00000174225		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	31709	protein-coding gene	gene with protein product			"""ADP-ribosylation factor-like 13"""	ARL13			Standard	NM_001162491		Approved		uc011mrf.2	Q5H913	OTTHUMG00000022013	ENST00000450049.2:c.749C>G	X.37:g.100245555C>G	ENSP00000398637:p.Ser250*		B2RTT6|B4DX50	Nonsense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Small_GTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR	p.S250*	ENST00000450049.2	37	c.749	CCDS55463.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.02|14.02	2.409688|2.409688	0.42715|0.42715	.|.	.|.	ENSG00000174225|ENSG00000174225	ENST00000372953|ENST00000450049	.|.	.|.	.|.	3.72|3.72	1.94|1.94	0.25998|0.25998	.|.	1.655150|.	0.02943|.	N|.	0.140694|.	T|.	0.38295|.	0.1035|.	.|.	.|.	.|.	0.20926|0.20926	N|N	0.999822|0.999822	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.37267|.	-0.9713|.	6|.	0.52906|0.87932	T|D	0.07|0	.|.	3.9779|3.9779	0.09483|0.09483	0.233:0.6401:0.0:0.1269|0.233:0.6401:0.0:0.1269	.|.	.|.	.|.	.|.	M|X	126|250	.|.	ENSP00000362044:I126M|ENSP00000398637:S250X	I|S	+|+	3|2	3|0	ARL13A|ARL13A	100132211|100132211	0.017000|0.017000	0.18338|0.18338	0.130000|0.130000	0.21974|0.21974	0.020000|0.020000	0.10135|0.10135	0.331000|0.331000	0.19733|0.19733	0.408000|0.408000	0.25621|0.25621	0.600000|0.600000	0.82982|0.82982	ATC|TCA	ARL13A	-	NULL		0.393	ARL13A-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	ARL13A	HGNC	protein_coding	OTTHUMT00000057504.2	C	XM_373358		100245555	+1	no_errors	ENST00000450049	ensembl	human	novel	70_37	nonsense	SNP	0.111	G
ASIC3	9311	genome.wustl.edu	37	7	150749645	150749645	+	Intron	SNP	C	C	G			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr7:150749645C>G	ENST00000349064.5	+	11	1715				ASIC3_ENST00000357922.4_Intron|ASIC3_ENST00000297512.8_Missense_Mutation_p.L508V	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3						cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										CCCCAGCACTCTGCTCTGTTC	0.627																																																	0													169.0	124.0	139.0					7																	150749645		2203	4300	6503	SO:0001627	intron_variant	9311			AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	101	protein-coding gene	gene with protein product	"""testis sodium channel 1"""	611741	"""amiloride-sensitive cation channel 3, testis"", ""amiloride-sensitive cation channel 3"""	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.1518-16C>G	7.37:g.150749645C>G			B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.L508V	ENST00000349064.5	37	c.1522	CCDS5916.1	7	.	.	.	.	.	.	.	.	.	.	C	3.196	-0.164776	0.06502	.	.	ENSG00000213199	ENST00000297512	T	0.64991	-0.13	4.71	-0.731	0.11151	.	.	.	.	.	T	0.35740	0.0942	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.20107	-1.0285	8	0.11794	T	0.64	0.3103	5.2175	0.15350	0.0954:0.5419:0.237:0.1257	.	508	Q9UHC3-3	.	V	508	ENSP00000297512:L508V	ENSP00000297512:L508V	L	+	1	2	ACCN3	150380578	0.009000	0.17119	0.008000	0.14137	0.006000	0.05464	0.052000	0.14163	-0.006000	0.14370	-1.415000	0.01116	CTG	ASIC3	-	NULL		0.627	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC3	HGNC	protein_coding	OTTHUMT00000351725.1	C	NM_004769		150749645	+1	no_errors	ENST00000297512	ensembl	human	known	70_37	missense	SNP	0.000	G
ASPH	444	genome.wustl.edu	37	8	62416034	62416034	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr8:62416034C>T	ENST00000379454.4	-	25	2348	c.2161G>A	c.(2161-2163)Gac>Aac	p.D721N	ASPH_ENST00000541428.1_Missense_Mutation_p.D692N	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	721					activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TCAAAGGAGTCATCAAAGATG	0.502																																																	0													126.0	93.0	104.0					8																	62416034		2203	4300	6503	SO:0001583	missense	444			AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.2161G>A	8.37:g.62416034C>T	ENSP00000368767:p.Asp721Asn		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D721N	ENST00000379454.4	37	c.2161	CCDS34898.1	8	.	.	.	.	.	.	.	.	.	.	C	36	5.761136	0.96906	.	.	ENSG00000198363	ENST00000541428;ENST00000379454	T;T	0.45276	0.9;0.9	5.71	5.71	0.89125	.	0.048627	0.85682	D	0.000000	T	0.74786	0.3762	M	0.93062	3.375	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.80084	-0.1530	10	0.87932	D	0	-34.4751	20.2245	0.98337	0.0:1.0:0.0:0.0	.	692;721	F5H667;Q12797	.;ASPH_HUMAN	N	692;721	ENSP00000437864:D692N;ENSP00000368767:D721N	ENSP00000368767:D721N	D	-	1	0	ASPH	62578588	1.000000	0.71417	0.988000	0.46212	0.993000	0.82548	7.294000	0.78760	2.861000	0.98227	0.650000	0.86243	GAC	ASPH	-	pfam_Asp_Arg_b-Hydrxlase		0.502	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPH	HGNC	protein_coding	OTTHUMT00000378510.3	C	NM_004318		62416034	-1	no_errors	ENST00000379454	ensembl	human	known	70_37	missense	SNP	1.000	T
ATE1	11101	genome.wustl.edu	37	10	123549544	123549545	+	Intron	INS	-	-	AC	rs68174104|rs3036895|rs112775971	byFrequency	TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr10:123549544_123549545insAC	ENST00000224652.6	-	11	1464				ATE1_ENST00000535655.1_Intron|ATE1_ENST00000369040.3_Intron|ATE1_ENST00000540606.1_Intron|ATE1_ENST00000369043.3_Intron|ATE1_ENST00000543447.1_Intron	NM_001001976.1	NP_001001976.1	O95260	ATE1_HUMAN	arginyltransferase 1						protein arginylation (GO:0016598)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	arginyltransferase activity (GO:0004057)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				TCCTCTATCTTACACACACACA	0.441														525	0.104832	0.121	0.0893	5008	,	,		20318	0.0645		0.0934	False		,,,				2504	0.1472																0																																										SO:0001627	intron_variant	11101			AF079098	CCDS31299.1, CCDS31300.1, CCDS73211.1, CCDS73212.1, CCDS73213.1	10q26	2013-05-08			ENSG00000107669	ENSG00000107669	2.3.2.8		782	protein-coding gene	gene with protein product		607103				16002466, 16943202	Standard	XM_005269458		Approved		uc001lfq.3	O95260	OTTHUMG00000019178	ENST00000224652.6:c.1378+138->GT	10.37:g.123549553_123549554dupAC			O95261|Q5SQQ3|Q8WW04	RNA	INS	-	NULL	ENST00000224652.6	37	NULL	CCDS31300.1	10																																																																																			ATE1	-	-		0.441	ATE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATE1	HGNC	protein_coding		-	NM_001001976		123549545	-1	no_errors	ENST00000470613	ensembl	human	known	70_37	rna	INS	0.000:0.000	AC
ATF2	1386	genome.wustl.edu	37	2	175957892	175957892	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr2:175957892C>T	ENST00000264110.2	-	12	1380	c.1082G>A	c.(1081-1083)cGa>cAa	p.R361Q	ATF2_ENST00000426833.3_Missense_Mutation_p.R343Q|ATF2_ENST00000538946.1_Missense_Mutation_p.R343Q|ATF2_ENST00000409437.1_Missense_Mutation_p.R245Q|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000392544.1_Missense_Mutation_p.R361Q|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000345739.5_Missense_Mutation_p.R303Q|ATF2_ENST00000409635.1_Missense_Mutation_p.R303Q	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	361	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				adipose tissue development (GO:0060612)|cellular response to DNA damage stimulus (GO:0006974)|chromatin organization (GO:0006325)|fat cell differentiation (GO:0045444)|histone acetylation (GO:0016573)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|outflow tract morphogenesis (GO:0003151)|positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902110)|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 transforming growth factor beta2 production (GO:0032915)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	cAMP response element binding (GO:0035497)|cAMP response element binding protein binding (GO:0008140)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)		Pseudoephedrine(DB00852)	TGCTCTATTTCGCTCTAAAAA	0.438																																					Pancreas(17;87 705 4534 15538 30988)												0													136.0	126.0	129.0					2																	175957892		2203	4300	6503	SO:0001583	missense	1386			X15875	CCDS2262.1, CCDS58737.1, CCDS58738.1, CCDS58739.1	2q32	2013-01-10			ENSG00000115966	ENSG00000115966		"""basic leucine zipper proteins"""	784	protein-coding gene	gene with protein product		123811	"""cAMP responsive element binding protein 2"""	CREB2		1833307, 1838349	Standard	NM_001880		Approved	TREB7, CRE-BP1, HB16	uc002ujl.4	P15336	OTTHUMG00000132424	ENST00000264110.2:c.1082G>A	2.37:g.175957892C>T	ENSP00000264110:p.Arg361Gln		A1L3Z2|A4D7U4|A4D7U5|A4D7V1|D3DPE9|G8JLM5|Q13000|Q3B7B7|Q4ZFU9|Q53RY2|Q8TAR1|Q96JT8	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP	p.R361Q	ENST00000264110.2	37	c.1082	CCDS2262.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.582525|5.582525	0.96578|0.96578	.|.	.|.	ENSG00000115966|ENSG00000115966	ENST00000435004|ENST00000264110;ENST00000345739;ENST00000542046;ENST00000409437;ENST00000409635;ENST00000392544;ENST00000426833;ENST00000538946	.|T;T;T;T;T;T;T	.|0.57595	.|0.39;0.39;0.39;0.39;0.39;0.39;0.39	5.54|5.54	5.54|5.54	0.83059|0.83059	.|Basic-leucine zipper (bZIP) transcription factor (3);bZIP transcription factor, bZIP-1 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.82006|0.82006	0.4943|0.4943	H|H	0.95816|0.95816	3.725|3.725	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.998;1.0;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.988;1.0;1.0;0.999	D|D	0.87212|0.87212	0.2248|0.2248	5|10	.|0.87932	.|D	.|0	-24.4645|-24.4645	19.4961|19.4961	0.95073|0.95073	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|343;338;303;361	.|A4D7U4;B3KY57;Q3B7B7;P15336	.|.;.;.;ATF2_HUMAN	K|Q	190|361;303;338;245;303;361;343;343	.|ENSP00000264110:R361Q;ENSP00000340576:R303Q;ENSP00000386326:R245Q;ENSP00000387093:R303Q;ENSP00000376327:R361Q;ENSP00000407911:R343Q;ENSP00000437952:R343Q	.|ENSP00000264110:R361Q	E|R	-|-	1|2	0|0	ATF2|ATF2	175666138|175666138	1.000000|1.000000	0.71417|0.71417	0.982000|0.982000	0.44146|0.44146	0.984000|0.984000	0.73092|0.73092	7.440000|7.440000	0.80464|0.80464	2.601000|2.601000	0.87937|0.87937	0.557000|0.557000	0.71058|0.71058	GAA|CGA	ATF2	-	pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_bZIP		0.438	ATF2-001	KNOWN	basic|CCDS	protein_coding	ATF2	HGNC	protein_coding	OTTHUMT00000255562.1	C	NM_001880		175957892	-1	no_errors	ENST00000264110	ensembl	human	known	70_37	missense	SNP	1.000	T
ATP13A2	23400	genome.wustl.edu	37	1	17331879	17331879	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:17331879C>T	ENST00000326735.8	-	3	311	c.278G>A	c.(277-279)aGa>aAa	p.R93K	ATP13A2_ENST00000341676.5_Missense_Mutation_p.R93K|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000452699.1_Missense_Mutation_p.R93K			Q9NQ11	AT132_HUMAN	ATPase type 13A2	93					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)		CTCTTTGTCTCTTATTTCGAT	0.627																																																	0													27.0	30.0	29.0					1																	17331879		2202	4299	6501	SO:0001583	missense	23400			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.278G>A	1.37:g.17331879C>T	ENSP00000327214:p.Arg93Lys		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.R93K	ENST00000326735.8	37	c.278	CCDS175.1	1	.	.	.	.	.	.	.	.	.	.	C	11.07	1.531795	0.27387	.	.	ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699	D;D;D	0.92545	-2.81;-3.06;-2.81	3.85	1.86	0.25419	.	0.648071	0.15075	N	0.281982	D	0.84502	0.5486	L	0.35723	1.085	0.21473	N	0.999678	B;B;B	0.09022	0.001;0.002;0.001	B;B;B	0.14578	0.002;0.011;0.003	T	0.66590	-0.5885	10	0.11794	T	0.64	-4.5098	7.4133	0.27029	0.0:0.7075:0.0:0.2925	.	93;93;93	Q5JXY1;Q6S9Z9;Q9NQ11	.;.;AT132_HUMAN	K	93	ENSP00000327214:R93K;ENSP00000341115:R93K;ENSP00000413307:R93K	ENSP00000327214:R93K	R	-	2	0	ATP13A2	17204466	0.968000	0.33430	0.994000	0.49952	0.985000	0.73830	0.472000	0.22116	0.363000	0.24346	0.491000	0.48974	AGA	ATP13A2	-	tigrfam_ATPase_P-typ_unknown-pump-sp		0.627	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP13A2	HGNC	protein_coding	OTTHUMT00000006617.1	C	NM_022089		17331879	-1	no_errors	ENST00000326735	ensembl	human	known	70_37	missense	SNP	0.997	T
ATP13A2	23400	genome.wustl.edu	37	1	17332006	17332006	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:17332006G>A	ENST00000326735.8	-	3	184	c.151C>T	c.(151-153)Cac>Tac	p.H51Y	ATP13A2_ENST00000341676.5_Missense_Mutation_p.H51Y|RP1-37C10.3_ENST00000446261.1_RNA|ATP13A2_ENST00000452699.1_Missense_Mutation_p.H51Y			Q9NQ11	AT132_HUMAN	ATPase type 13A2	51					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)		ACCACGACGTGATAGCCGATG	0.667																																																	0													42.0	49.0	46.0					1																	17332006		2203	4300	6503	SO:0001583	missense	23400			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.151C>T	1.37:g.17332006G>A	ENSP00000327214:p.His51Tyr		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.H51Y	ENST00000326735.8	37	c.151	CCDS175.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.28|18.28	3.588703|3.588703	0.66105|0.66105	.|.	.|.	ENSG00000159363|ENSG00000159363	ENST00000326735;ENST00000341676;ENST00000452699|ENST00000510069;ENST00000509619	T;T;T|.	0.19250|.	2.16;2.16;2.16|.	4.84|4.84	3.92|3.92	0.45320|0.45320	.|.	0.166402|.	0.56097|.	D|.	0.000032|.	T|T	0.42131|0.42131	0.1189|0.1189	L|L	0.38838|0.38838	1.175|1.175	0.33366|0.33366	D|D	0.572941|0.572941	B;D;B|.	0.71674|.	0.002;0.998;0.024|.	B;P;B|.	0.60012|.	0.004;0.867;0.023|.	T|T	0.52571|0.52571	-0.8558|-0.8558	10|5	0.02654|.	T|.	1|.	-18.5429|-18.5429	8.6973|8.6973	0.34305|0.34305	0.1779:0.0:0.8221:0.0|0.1779:0.0:0.8221:0.0	.|.	51;51;51|.	Q5JXY1;Q6S9Z9;Q9NQ11|.	.;.;AT132_HUMAN|.	Y|L	51|26;43	ENSP00000327214:H51Y;ENSP00000341115:H51Y;ENSP00000413307:H51Y|.	ENSP00000327214:H51Y|.	H|S	-|-	1|2	0|0	ATP13A2|ATP13A2	17204593|17204593	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.986000|0.986000	0.74619|0.74619	4.862000|4.862000	0.62976|0.62976	1.174000|1.174000	0.42811|0.42811	0.491000|0.491000	0.48974|0.48974	CAC|TCA	ATP13A2	-	tigrfam_ATPase_P-typ_unknown-pump-sp		0.667	ATP13A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ATP13A2	HGNC	protein_coding	OTTHUMT00000006617.1	G	NM_022089		17332006	-1	no_errors	ENST00000326735	ensembl	human	known	70_37	missense	SNP	1.000	A
ATP13A4	84239	genome.wustl.edu	37	3	193120514	193120514	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:193120514G>A	ENST00000342695.4	-	30	3840	c.3518C>T	c.(3517-3519)tCt>tTt	p.S1173F	ATP13A4_ENST00000392443.3_Missense_Mutation_p.S1154F|ATP13A4_ENST00000400270.2_Missense_Mutation_p.S189F|ATP13A4_ENST00000482964.1_5'UTR	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	1173						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CGGCATGTCAGAGTGGGAGGT	0.463																																																	0													97.0	95.0	96.0					3																	193120514		2203	4300	6503	SO:0001583	missense	84239			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.3518C>T	3.37:g.193120514G>A	ENSP00000339182:p.Ser1173Phe		B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr	p.S1173F	ENST00000342695.4	37	c.3518	CCDS3304.2	3	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268249	0.40095	.	.	ENSG00000127249	ENST00000400270;ENST00000392443;ENST00000342695	T;D;D	0.85773	0.42;-1.74;-2.03	5.0	4.12	0.48240	.	0.332375	0.25798	N	0.028229	D	0.84397	0.5463	L	0.38175	1.15	0.80722	D	1	P	0.42556	0.783	P	0.50617	0.646	D	0.85187	0.1007	10	0.72032	D	0.01	-16.8525	12.1067	0.53816	0.0:0.3817:0.6183:0.0	.	1173	Q4VNC1	AT134_HUMAN	F	189;1154;1173	ENSP00000383129:S189F;ENSP00000376238:S1154F;ENSP00000339182:S1173F	ENSP00000339182:S1173F	S	-	2	0	ATP13A4	194603208	0.991000	0.36638	0.971000	0.41717	0.179000	0.23085	3.011000	0.49567	1.223000	0.43536	0.597000	0.82753	TCT	ATP13A4	-	NULL		0.463	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP13A4	HGNC	protein_coding	OTTHUMT00000157244.4	G	NM_032279		193120514	-1	no_errors	ENST00000342695	ensembl	human	known	70_37	missense	SNP	0.996	A
ATP5D	513	genome.wustl.edu	37	19	1242460	1242460	+	Silent	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:1242460C>T	ENST00000215375.2	+	2	248	c.147C>T	c.(145-147)ttC>ttT	p.F49F	ATP5D_ENST00000591660.1_Silent_p.F49F|AC004221.2_ENST00000592843.1_lincRNA|ATP5D_ENST00000395633.1_Silent_p.F49F	NM_001687.4	NP_001678.1	P30049	ATPD_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, delta subunit	49					ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to copper ion (GO:0046688)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase complex, catalytic core F(1) (GO:0000275)|mitochondrion (GO:0005739)	proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			large_intestine(1)	1		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGCAGGTGTTCTTCAACGGTG	0.701																																																	0													25.0	20.0	22.0					19																	1242460		2171	4273	6444	SO:0001819	synonymous_variant	513			X63423	CCDS12058.1	19p13.3	2012-10-12			ENSG00000099624	ENSG00000099624		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	837	protein-coding gene	gene with protein product		603150				1531933	Standard	NM_001687		Approved		uc002lro.3	P30049		ENST00000215375.2:c.147C>T	19.37:g.1242460C>T			D6W5Y3|Q6FG90	Silent	SNP	pfam_ATPase_F1-cplx_dsu/esu_N,superfamily_ATPase_F1-cplx_dsu/esu_N,superfamily_ATPase_F1-cplx_dsu/esu_C,tigrfam_ATPase_F1-cplx_dsu/esu	p.F49	ENST00000215375.2	37	c.147	CCDS12058.1	19																																																																																			ATP5D	-	pfam_ATPase_F1-cplx_dsu/esu_N,superfamily_ATPase_F1-cplx_dsu/esu_N,tigrfam_ATPase_F1-cplx_dsu/esu		0.701	ATP5D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP5D	HGNC	protein_coding	OTTHUMT00000449958.1	C	NM_001687		1242460	+1	no_errors	ENST00000215375	ensembl	human	known	70_37	silent	SNP	0.999	T
ATP1A3	478	genome.wustl.edu	37	19	42489283	42489283	+	Missense_Mutation	SNP	G	G	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:42489283G>C	ENST00000302102.5	-	8	930	c.780C>G	c.(778-780)atC>atG	p.I260M	ATP1A3_ENST00000543770.1_Missense_Mutation_p.I271M|ATP1A3_ENST00000545399.1_Missense_Mutation_p.I273M|ATP1A3_ENST00000468774.2_5'Flank|ATP1A3_ENST00000602133.1_Missense_Mutation_p.I230M	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	260					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						CCAGGGTGGCGATACGGCCCA	0.672																																																	0													83.0	67.0	73.0					19																	42489283		2203	4300	6503	SO:0001583	missense	478				CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.780C>G	19.37:g.42489283G>C	ENSP00000302397:p.Ile260Met		B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.I260M	ENST00000302102.5	37	c.780	CCDS12594.1	19	.	.	.	.	.	.	.	.	.	.	g	10.95	1.495806	0.26774	.	.	ENSG00000105409	ENST00000302102;ENST00000441343;ENST00000545399;ENST00000368080;ENST00000535899;ENST00000543770	D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1	4.28	-8.57	0.00900	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.85682	D	0.000000	D	0.95903	0.8666	H	0.95260	3.645	0.49483	D	0.999797	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96236	0.9172	10	0.87932	D	0	.	12.3031	0.54887	0.3338:0.0:0.5766:0.0897	.	273;271;260;260	B7Z2T0;F5H6J6;E9PC51;P13637	.;.;.;AT1A3_HUMAN	M	260;260;273;230;4;271	ENSP00000302397:I260M;ENSP00000411503:I260M;ENSP00000444688:I273M;ENSP00000437577:I271M	ENSP00000302397:I260M	I	-	3	3	ATP1A3	47181123	0.000000	0.05858	0.262000	0.24481	0.393000	0.30537	-1.694000	0.01915	-3.332000	0.00185	-2.858000	0.00101	ATC	ATP1A3	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr		0.672	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	ATP1A3	HGNC	protein_coding	OTTHUMT00000268107.1	G	NM_152296		42489283	-1	no_errors	ENST00000302102	ensembl	human	known	70_37	missense	SNP	0.337	C
ATXN1	6310	genome.wustl.edu	37	6	16327563	16327563	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:16327563C>T	ENST00000244769.4	-	8	1915	c.979G>A	c.(979-981)Gag>Aag	p.E327K	ATXN1_ENST00000436367.1_Missense_Mutation_p.E327K	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	327					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|nuclear export (GO:0051168)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|RNA processing (GO:0006396)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear inclusion body (GO:0042405)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|poly(G) binding (GO:0034046)|poly(U) RNA binding (GO:0008266)|protein C-terminus binding (GO:0008022)|protein self-association (GO:0043621)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TTCTCCATCTCACCGTTCAGG	0.677																																																	0													40.0	47.0	45.0					6																	16327563		2203	4300	6503	SO:0001583	missense	6310			X79204	CCDS34342.1	6p23	2014-09-17	2004-08-12	2004-08-13	ENSG00000124788	ENSG00000124788		"""Ataxins"""	10548	protein-coding gene	gene with protein product		601556	"""spinocerebellar ataxia 1 (olivopontocerebellar ataxia 1, autosomal dominant, ataxin 1)"""	SCA1		1582256	Standard	NM_000332		Approved	D6S504E, ATX1	uc010jpi.3	P54253	OTTHUMG00000014303	ENST00000244769.4:c.979G>A	6.37:g.16327563C>T	ENSP00000244769:p.Glu327Lys		Q17S02|Q9UJG2|Q9Y4J1	Missense_Mutation	SNP	pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1	p.E327K	ENST00000244769.4	37	c.979	CCDS34342.1	6	.	.	.	.	.	.	.	.	.	.	C	35	5.427724	0.96131	.	.	ENSG00000124788	ENST00000244769;ENST00000450222;ENST00000436367	T;T	0.34275	1.37;1.37	5.07	5.07	0.68467	.	0.150485	0.64402	D	0.000017	T	0.51024	0.1650	M	0.66939	2.045	0.80722	D	1	D	0.69078	0.997	D	0.73380	0.98	T	0.48115	-0.9063	10	0.40728	T	0.16	-26.7638	18.4555	0.90718	0.0:1.0:0.0:0.0	.	327	P54253	ATX1_HUMAN	K	327	ENSP00000244769:E327K;ENSP00000416360:E327K	ENSP00000244769:E327K	E	-	1	0	ATXN1	16435542	1.000000	0.71417	0.961000	0.40146	0.979000	0.70002	7.252000	0.78309	2.353000	0.79882	0.561000	0.74099	GAG	ATXN1	-	NULL		0.677	ATXN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATXN1	HGNC	protein_coding	OTTHUMT00000039943.3	C	NM_000332		16327563	-1	no_errors	ENST00000244769	ensembl	human	known	70_37	missense	SNP	1.000	T
AZIN1	51582	genome.wustl.edu	37	8	103848607	103848607	+	Missense_Mutation	SNP	T	T	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr8:103848607T>C	ENST00000337198.5	-	6	1624	c.461A>G	c.(460-462)cAt>cGt	p.H154R	AZIN1_ENST00000522311.1_5'UTR|AZIN1_ENST00000347770.4_Missense_Mutation_p.H154R	NM_148174.2	NP_680479.1	O14977	AZIN1_HUMAN	antizyme inhibitor 1	154					cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|negative regulation of protein catabolic process (GO:0042177)|polyamine biosynthetic process (GO:0006596)|positive regulation of polyamine transmembrane transport (GO:1902269)|regulation of cellular amino acid metabolic process (GO:0006521)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|enzyme inhibitor activity (GO:0004857)|ornithine decarboxylase activator activity (GO:0042978)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	9	Lung NSC(17;0.000143)|all_lung(17;0.000294)		OV - Ovarian serous cystadenocarcinoma(57;0.000196)|STAD - Stomach adenocarcinoma(118;0.0414)			TGTTGCAATATGTAGTAAGAC	0.423																																																	0													156.0	144.0	148.0					8																	103848607		2203	4300	6503	SO:0001583	missense	51582			AAC25391	CCDS6295.1	8p22-q21.3	2005-03-21	2005-03-21	2005-03-21		ENSG00000155096			16432	protein-coding gene	gene with protein product	"""ornithine decarboxylase 1-like"""	607909	"""ornithine decarboxylase antizyme inhibitor"""	OAZIN		9349715, 9110174	Standard	XM_005250969		Approved	OAZI, ODC1L	uc003yky.3	O14977		ENST00000337198.5:c.461A>G	8.37:g.103848607T>C	ENSP00000337180:p.His154Arg		A6NCD5|Q6IBQ7|Q96D20	Missense_Mutation	SNP	pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase	p.H154R	ENST00000337198.5	37	c.461	CCDS6295.1	8	.	.	.	.	.	.	.	.	.	.	T	7.189	0.591122	0.13812	.	.	ENSG00000155096	ENST00000337198;ENST00000347770	T;T	0.25414	1.8;1.8	6.08	6.08	0.98989	Orn/DAP/Arg decarboxylase 2, N-terminal (1);	0.048319	0.85682	D	0.000000	T	0.07503	0.0189	N	0.00422	-1.515	0.58432	D	0.999994	B	0.09022	0.002	B	0.12156	0.007	T	0.34477	-0.9827	10	0.02654	T	1	-13.2373	16.6512	0.85203	0.0:0.0:0.0:1.0	.	154	O14977	AZIN1_HUMAN	R	154	ENSP00000337180:H154R;ENSP00000321507:H154R	ENSP00000337180:H154R	H	-	2	0	AZIN1	103917783	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.043000	0.64208	2.333000	0.79357	0.482000	0.46254	CAT	AZIN1	-	pfam_De-COase2_N,prints_Orn_de-COase		0.423	AZIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AZIN1	HGNC	protein_coding	OTTHUMT00000380133.1	T			103848607	-1	no_errors	ENST00000337198	ensembl	human	known	70_37	missense	SNP	1.000	C
BOD1L1	259282	genome.wustl.edu	37	4	13603720	13603720	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr4:13603720C>T	ENST00000040738.5	-	10	4939	c.4804G>A	c.(4804-4806)Gaa>Aaa	p.E1602K		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	1602						nucleus (GO:0005634)	DNA binding (GO:0003677)										GTTTCACTTTCAGCAAATCCC	0.502																																																	0													64.0	61.0	62.0					4																	13603720		2203	4300	6503	SO:0001583	missense	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.4804G>A	4.37:g.13603720C>T	ENSP00000040738:p.Glu1602Lys		Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.E1602K	ENST00000040738.5	37	c.4804	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250460	0.80024	.	.	ENSG00000038219	ENST00000040738	T	0.10477	2.87	5.23	5.23	0.72850	.	0.107920	0.40908	D	0.000981	T	0.23806	0.0576	L	0.36672	1.1	0.40857	D	0.983802	D	0.76494	0.999	D	0.78314	0.991	T	0.01356	-1.1376	10	0.32370	T	0.25	-5.1335	16.9701	0.86296	0.0:1.0:0.0:0.0	.	1602	Q8NFC6	BOD1L_HUMAN	K	1602	ENSP00000040738:E1602K	ENSP00000040738:E1602K	E	-	1	0	BOD1L	13212818	1.000000	0.71417	0.971000	0.41717	0.722000	0.41435	4.770000	0.62309	2.429000	0.82318	0.650000	0.86243	GAA	BOD1L1	-	NULL		0.502	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	C	NM_148894		13603720	-1	no_errors	ENST00000040738	ensembl	human	known	70_37	missense	SNP	1.000	T
BANK1	55024	genome.wustl.edu	37	4	102751337	102751337	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr4:102751337C>T	ENST00000322953.4	+	2	717	c.443C>T	c.(442-444)tCt>tTt	p.S148F	BANK1_ENST00000428908.1_Intron|BANK1_ENST00000508653.1_Intron|BANK1_ENST00000504592.1_Missense_Mutation_p.S133F|BANK1_ENST00000444316.2_Missense_Mutation_p.S118F	NM_017935.4	NP_060405	Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1	148	Interaction with ITPR2.				B cell activation (GO:0042113)					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		GACTACATCTCTGTAATCCAG	0.328																																																	0													56.0	61.0	59.0					4																	102751337		2196	4299	6495	SO:0001583	missense	55024			AB063170	CCDS34038.1, CCDS47115.1, CCDS47116.1	4q23	2013-01-11						"""Ankyrin repeat domain containing"""	18233	protein-coding gene	gene with protein product		610292				11782428, 21208380, 21480188	Standard	NM_017935		Approved	BANK, FLJ20706	uc003hvy.4	Q8NDB2		ENST00000322953.4:c.443C>T	4.37:g.102751337C>T	ENSP00000320509:p.Ser148Phe		A8K7W8|B0F3S2|Q8N5K8|Q8NB56|Q8WYN5|Q9NWP2	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.S148F	ENST00000322953.4	37	c.443	CCDS34038.1	4	.	.	.	.	.	.	.	.	.	.	C	21.0	4.077106	0.76415	.	.	ENSG00000153064	ENST00000504592;ENST00000322953;ENST00000444316	T;T;T	0.11385	2.78;2.78;2.78	5.32	5.32	0.75619	.	0.186440	0.35262	N	0.003325	T	0.30166	0.0756	L	0.53249	1.67	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.73380	0.98;0.98	T	0.00992	-1.1488	10	0.87932	D	0	.	18.0043	0.89205	0.0:1.0:0.0:0.0	.	148;133	Q8NDB2;Q8NDB2-2	BANK1_HUMAN;.	F	133;148;118	ENSP00000421443:S133F;ENSP00000320509:S148F;ENSP00000388817:S118F	ENSP00000320509:S148F	S	+	2	0	BANK1	102970360	1.000000	0.71417	0.995000	0.50966	0.992000	0.81027	5.396000	0.66297	2.478000	0.83669	0.650000	0.86243	TCT	BANK1	-	NULL		0.328	BANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BANK1	HGNC	protein_coding	OTTHUMT00000363161.1	C	NM_017935		102751337	+1	no_errors	ENST00000322953	ensembl	human	known	70_37	missense	SNP	0.998	T
BOLL	66037	genome.wustl.edu	37	2	198621173	198621173	+	Silent	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr2:198621173C>T	ENST00000392296.4	-	9	1017	c.708G>A	c.(706-708)ctG>ctA	p.L236L	BOLL_ENST00000282278.8_Silent_p.L127L|AC011997.1_ENST00000409845.1_Intron|BOLL_ENST00000430004.1_Silent_p.L258L|BOLL_ENST00000321801.7_Silent_p.L248L|BOLL_ENST00000433157.1_Silent_p.L236L	NM_033030.5	NP_149019.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	236					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						AAGTTTCCATCAGAGACAGTG	0.363																																																	0													80.0	77.0	78.0					2																	198621173		2203	4300	6503	SO:0001819	synonymous_variant	66037				CCDS2324.1, CCDS2325.1, CCDS63081.1	2q33	2013-10-17	2013-10-17		ENSG00000152430	ENSG00000152430		"""RNA binding motif (RRM) containing"""	14273	protein-coding gene	gene with protein product		606165	"""bol (Drosophila boule homolog)-like"", ""bol, boule-like (Drosophila)"""			11390979, 16001084	Standard	NM_197970		Approved	BOULE	uc002uut.2	Q8N9W6	OTTHUMG00000132747	ENST00000392296.4:c.708G>A	2.37:g.198621173C>T			B4DZA4|Q0JW32|Q53T62|Q969U3	Silent	SNP	pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom	p.L248	ENST00000392296.4	37	c.744	CCDS2325.1	2																																																																																			BOLL	-	NULL		0.363	BOLL-001	KNOWN	basic|CCDS	protein_coding	BOLL	HGNC	protein_coding	OTTHUMT00000256107.3	C	NM_033030		198621173	-1	no_errors	ENST00000321801	ensembl	human	known	70_37	silent	SNP	0.997	T
BRD9	65980	genome.wustl.edu	37	5	884088	884088	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr5:884088G>A	ENST00000467963.1	-	8	1097	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W	BRD9_ENST00000323510.4_Missense_Mutation_p.R215W|BRD9_ENST00000494422.1_Intron|BRD9_ENST00000435709.2_Missense_Mutation_p.R195W|BRD9_ENST00000388890.4_Missense_Mutation_p.R195W|BRD9_ENST00000483173.1_Missense_Mutation_p.R258W	NM_023924.4	NP_076413.3	Q9H8M2	BRD9_HUMAN	bromodomain containing 9	311					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		lysine-acetylated histone binding (GO:0070577)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			ATCCTGTCCCGAGCTTCGTCA	0.627																																																	0													128.0	99.0	109.0					5																	884088		2203	4300	6503	SO:0001583	missense	65980			AK023503	CCDS34127.1, CCDS34128.1, CCDS34127.2, CCDS34128.2	5p15.33	2008-02-05			ENSG00000028310	ENSG00000028310			25818	protein-coding gene	gene with protein product						12477932	Standard	NM_023924		Approved	FLJ13441	uc003jbq.3	Q9H8M2	OTTHUMG00000159258	ENST00000467963.1:c.931C>T	5.37:g.884088G>A	ENSP00000419765:p.Arg311Trp		A6NFY8|B4DMQ2|B4DR93|Q2XUS1|Q6UWU9|Q8IUS4|Q9H5Q5|Q9H7R9	Missense_Mutation	SNP	pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.R311W	ENST00000467963.1	37	c.931	CCDS34127.2	5	.	.	.	.	.	.	.	.	.	.	G	11.11	1.542705	0.27563	.	.	ENSG00000028310	ENST00000323510;ENST00000388890;ENST00000483173;ENST00000467963;ENST00000435709;ENST00000489093	T;T;T;T;T;T	0.50277	0.75;0.75;0.75;0.75;0.75;0.75	5.03	3.2	0.36748	.	0.057457	0.64402	D	0.000001	T	0.43033	0.1229	M	0.77616	2.38	0.58432	D	0.999999	P;P;P;B	0.41041	0.736;0.494;0.69;0.438	B;B;B;B	0.34536	0.185;0.115;0.116;0.07	T	0.38650	-0.9651	10	0.59425	D	0.04	.	7.4442	0.27201	0.0776:0.0:0.6282:0.2942	.	258;311;215;195	B4DMQ2;Q9H8M2;Q9H8M2-1;Q9H8M2-3	.;BRD9_HUMAN;.;.	W	215;195;258;311;195;215	ENSP00000323557:R215W;ENSP00000373542:R195W;ENSP00000419845:R258W;ENSP00000419765:R311W;ENSP00000402984:R195W;ENSP00000420722:R215W	ENSP00000323557:R215W	R	-	1	2	BRD9	937088	1.000000	0.71417	0.003000	0.11579	0.032000	0.12392	4.775000	0.62346	0.491000	0.27793	0.609000	0.83330	CGG	BRD9	-	pfam_DUF3512		0.627	BRD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD9	HGNC	protein_coding	OTTHUMT00000354113.1	G	NM_023924		884088	-1	no_errors	ENST00000467963	ensembl	human	known	70_37	missense	SNP	0.972	A
BRIP1	83990	genome.wustl.edu	37	17	59761153	59761153	+	Missense_Mutation	SNP	C	C	G			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr17:59761153C>G	ENST00000259008.2	-	20	3521	c.3254G>C	c.(3253-3255)aGa>aCa	p.R1085T		NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	1085					DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						ATGATTTTTTCTAGTAAGGGT	0.373			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																															yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	BRCA1 interacting protein C-terminal helicase 1		"""L, E"""	0													159.0	160.0	160.0					17																	59761153		2203	4300	6503	SO:0001583	missense	83990			AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.3254G>C	17.37:g.59761153C>G	ENSP00000259008:p.Arg1085Thr		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	pfam_DEAD_2,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_TIL_dom,smart_Helicase-like_DEXD_c2,smart_Helicase_ATP-bd,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.R1085T	ENST00000259008.2	37	c.3254	CCDS11631.1	17	.	.	.	.	.	.	.	.	.	.	C	1.060	-0.673161	0.03403	.	.	ENSG00000136492	ENST00000259008	T	0.73681	-0.77	4.67	2.11	0.27256	.	1.233200	0.05563	N	0.569590	T	0.49304	0.1549	N	0.03608	-0.345	0.09310	N	1	B	0.16603	0.018	B	0.11329	0.006	T	0.35624	-0.9781	9	.	.	.	-3.0196	4.659	0.12632	0.0:0.1221:0.1939:0.684	.	1085	Q9BX63	FANCJ_HUMAN	T	1085	ENSP00000259008:R1085T	.	R	-	2	0	BRIP1	57115935	0.003000	0.15002	0.001000	0.08648	0.008000	0.06430	1.273000	0.33121	0.161000	0.19458	-0.262000	0.10625	AGA	BRIP1	-	NULL		0.373	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRIP1	HGNC	protein_coding	OTTHUMT00000445362.1	C	NM_032043		59761153	-1	no_errors	ENST00000259008	ensembl	human	known	70_37	missense	SNP	0.001	G
MYRFL	196446	genome.wustl.edu	37	12	70284768	70284768	+	Missense_Mutation	SNP	G	G	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr12:70284768G>C	ENST00000552032.2	+	7	939	c.725G>C	c.(724-726)cGa>cCa	p.R242P	MYRFL_ENST00000547771.2_Missense_Mutation_p.R242P			Q96LU7	MRFL_HUMAN	myelin regulatory factor-like	242						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										GTGGGCTATCGAGTTGTAACA	0.323																																																	0																																										SO:0001583	missense	196446			AK057785		12q15	2012-12-19	2012-12-19	2012-12-19	ENSG00000166268	ENSG00000166268			26316	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 15"", ""chromosome 12 open reading frame 28"""	C12orf15, C12orf28			Standard	XM_006709961		Approved	FLJ25056, bcm1377		Q96LU7	OTTHUMG00000169438	ENST00000552032.2:c.725G>C	12.37:g.70284768G>C	ENSP00000448753:p.Arg242Pro			Missense_Mutation	SNP	pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd	p.R242P	ENST00000552032.2	37	c.725		12																																																																																			C12orf28	-	superfamily_p53-like_TF_DNA-bd		0.323	MYRFL-004	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	C12orf28	HGNC	protein_coding	OTTHUMT00000404016.2	G	NM_182530		70284768	+1	no_errors	ENST00000547771	ensembl	human	known	70_37	missense	SNP	0.922	C
MYRFL	196446	genome.wustl.edu	37	12	70284779	70284779	+	Missense_Mutation	SNP	G	G	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr12:70284779G>C	ENST00000552032.2	+	7	950	c.736G>C	c.(736-738)Gac>Cac	p.D246H	MYRFL_ENST00000547771.2_Missense_Mutation_p.D246H			Q96LU7	MRFL_HUMAN	myelin regulatory factor-like	246						integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)										AGTTGTAACAGACAAAGGATT	0.338																																																	0																																										SO:0001583	missense	196446			AK057785		12q15	2012-12-19	2012-12-19	2012-12-19	ENSG00000166268	ENSG00000166268			26316	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 15"", ""chromosome 12 open reading frame 28"""	C12orf15, C12orf28			Standard	XM_006709961		Approved	FLJ25056, bcm1377		Q96LU7	OTTHUMG00000169438	ENST00000552032.2:c.736G>C	12.37:g.70284779G>C	ENSP00000448753:p.Asp246His			Missense_Mutation	SNP	pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd	p.D246H	ENST00000552032.2	37	c.736		12																																																																																			C12orf28	-	superfamily_p53-like_TF_DNA-bd		0.338	MYRFL-004	PUTATIVE	not_organism_supported|basic|appris_principal	protein_coding	C12orf28	HGNC	protein_coding	OTTHUMT00000404016.2	G	NM_182530		70284779	+1	no_errors	ENST00000547771	ensembl	human	known	70_37	missense	SNP	1.000	C
C17orf97	400566	genome.wustl.edu	37	17	263129	263129	+	Silent	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr17:263129G>A	ENST00000360127.6	+	2	511	c.495G>A	c.(493-495)cgG>cgA	p.R165R	C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	165								p.R165R(2)		breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						TTGCGAATCGGATCAACGAAA	0.512																																																	2	Substitution - coding silent(2)	lung(2)											106.0	110.0	108.0					17																	263129		2203	4300	6503	SO:0001819	synonymous_variant	400566			AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.495G>A	17.37:g.263129G>A			A5D8T6|Q6NSI2|Q6PFW9	Silent	SNP	NULL	p.R165	ENST00000360127.6	37	c.495	CCDS32519.2	17																																																																																			C17orf97	-	NULL		0.512	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C17orf97	HGNC	protein_coding	OTTHUMT00000255648.4	G	NM_001013672		263129	+1	no_errors	ENST00000360127	ensembl	human	known	70_37	silent	SNP	0.001	A
C19orf57	79173	genome.wustl.edu	37	19	14003957	14003957	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:14003957G>A	ENST00000586783.1	-	3	285	c.286C>T	c.(286-288)Cag>Tag	p.Q96*	C19orf57_ENST00000454313.1_Nonsense_Mutation_p.Q96*|C19orf57_ENST00000346736.2_Nonsense_Mutation_p.Q96*|C19orf57_ENST00000591586.1_Nonsense_Mutation_p.Q96*			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	96					multicellular organismal development (GO:0007275)					breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GAGCTCACCTGGGAAGGAGGA	0.537																																																	0													45.0	43.0	44.0					19																	14003957		2202	4298	6500	SO:0001587	stop_gained	79173			BC012945	CCDS12299.1	19p13.12	2012-10-26			ENSG00000132016	ENSG00000132016			28153	protein-coding gene	gene with protein product						8228263	Standard	NM_024323		Approved	MGC11271	uc002mxl.1	Q0VDD7	OTTHUMG00000181851	ENST00000586783.1:c.286C>T	19.37:g.14003957G>A	ENSP00000465822:p.Gln96*		Q13411|Q8N825|Q96D63|Q9BU49	Nonsense_Mutation	SNP	NULL	p.Q96*	ENST00000586783.1	37	c.286		19	.	.	.	.	.	.	.	.	.	.	G	23.2	4.385620	0.82792	.	.	ENSG00000132016	ENST00000454313;ENST00000346736	.	.	.	3.99	3.99	0.46301	.	0.494595	0.15576	N	0.255194	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-3.8967	11.7721	0.51965	0.0:0.0:1.0:0.0	.	.	.	.	X	96	.	ENSP00000254336:Q96X	Q	-	1	0	C19orf57	13864957	1.000000	0.71417	0.991000	0.47740	0.164000	0.22412	3.775000	0.55349	2.214000	0.71695	0.561000	0.74099	CAG	C19orf57	-	NULL		0.537	C19orf57-003	NOVEL	basic	protein_coding	C19orf57	HGNC	protein_coding	OTTHUMT00000457947.1	G	NM_024323		14003957	-1	no_errors	ENST00000454313	ensembl	human	known	70_37	nonsense	SNP	0.991	A
ERICH3	127254	genome.wustl.edu	37	1	75038033	75038033	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:75038033C>T	ENST00000326665.5	-	14	3579	c.3361G>A	c.(3361-3363)Gaa>Aaa	p.E1121K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		1121	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GATCCCATTTCATTTGGGGGA	0.448																																																	0													84.0	91.0	88.0					1																	75038033		2203	4300	6503	SO:0001583	missense	127254																														ENST00000326665.5:c.3361G>A	1.37:g.75038033C>T	ENSP00000322609:p.Glu1121Lys		Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	NULL	p.E1121K	ENST00000326665.5	37	c.3361	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.409327	0.42715	.	.	ENSG00000178965	ENST00000326665	T	0.15017	2.46	5.03	2.88	0.33553	.	.	.	.	.	T	0.04679	0.0127	L	0.40543	1.245	0.29721	N	0.838673	B	0.30851	0.297	B	0.27262	0.078	T	0.36625	-0.9740	9	0.30854	T	0.27	-1.8255	8.7621	0.34680	0.0:0.7809:0.0:0.2191	.	1121	Q5RHP9	CA173_HUMAN	K	1121	ENSP00000322609:E1121K	ENSP00000322609:E1121K	E	-	1	0	C1orf173	74810621	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	0.918000	0.28678	0.360000	0.24265	0.561000	0.74099	GAA	C1orf173	-	NULL		0.448	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	C			75038033	-1	no_errors	ENST00000326665	ensembl	human	known	70_37	missense	SNP	0.072	T
C3orf70	285382	genome.wustl.edu	37	3	184870595	184870595	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:184870595G>A	ENST00000335012.2	-	1	207	c.17C>T	c.(16-18)tCg>tTg	p.S6L		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	6								p.S6L(2)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						CGACGCCGGCGAGGCCGCCGC	0.716																																																	2	Substitution - Missense(2)	urinary_tract(1)|lung(1)											16.0	17.0	17.0					3																	184870595		2196	4292	6488	SO:0001583	missense	285382				CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.17C>T	3.37:g.184870595G>A	ENSP00000334974:p.Ser6Leu		B2RNY2|B9EH83	Missense_Mutation	SNP	NULL	p.S6L	ENST00000335012.2	37	c.17	CCDS33900.1	3	.	.	.	.	.	.	.	.	.	.	G	7.421	0.636714	0.14386	.	.	ENSG00000187068	ENST00000335012	.	.	.	2.01	2.01	0.26516	.	0.281820	0.29692	N	0.011445	T	0.20577	0.0495	N	0.08118	0	0.24817	N	0.992606	B	0.18013	0.025	B	0.08055	0.003	T	0.16364	-1.0405	9	0.22109	T	0.4	.	11.538	0.50651	0.0:0.0:1.0:0.0	.	6	A6NLC5	CC070_HUMAN	L	6	.	ENSP00000334974:S6L	S	-	2	0	C3orf70	186353289	0.741000	0.28217	0.135000	0.22099	0.031000	0.12232	2.664000	0.46783	0.951000	0.37770	0.195000	0.17529	TCG	C3orf70	-	NULL		0.716	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf70	HGNC	protein_coding	OTTHUMT00000345323.1	G	NM_001025266		184870595	-1	no_errors	ENST00000335012	ensembl	human	known	70_37	missense	SNP	0.804	A
SMIM14	201895	genome.wustl.edu	37	4	39553616	39553616	+	3'UTR	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr4:39553616G>A	ENST00000295958.5	-	0	816				SMIM14_ENST00000511809.1_3'UTR|UGDH-AS1_ENST00000504032.1_RNA|SMIM14_ENST00000510628.1_5'UTR	NM_174921.1	NP_777581.1	Q96QK8	SIM14_HUMAN	small integral membrane protein 14							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											AGAAGCTCATGAAAACAATAC	0.343																																																	0																																										SO:0001624	3_prime_UTR_variant	201895			BC008502	CCDS3456.1	4p14	2014-02-10	2012-12-03	2012-12-03	ENSG00000163683	ENSG00000163683			27321	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 34"""	C4orf34		15231747, 24499674, 23759569	Standard	NM_174921		Approved	FLJ13289	uc003guo.3	Q96QK8	OTTHUMG00000128581	ENST00000295958.5:c.*130C>T	4.37:g.39553616G>A				RNA	SNP	-	NULL	ENST00000295958.5	37	NULL	CCDS3456.1	4																																																																																			C4orf34	-	-		0.343	SMIM14-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C4orf34	HGNC	protein_coding	OTTHUMT00000250434.4	G	NM_174921		39553616	-1	no_errors	ENST00000510628	ensembl	human	known	70_37	rna	SNP	1.000	A
C8orf58	541565	genome.wustl.edu	37	8	22458791	22458791	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr8:22458791G>A	ENST00000289989.5	+	2	511	c.437G>A	c.(436-438)cGt>cAt	p.R146H	C8orf58_ENST00000409586.3_Missense_Mutation_p.R146H			Q8NAV2	CH058_HUMAN	chromosome 8 open reading frame 58	146										endometrium(1)|lung(1)|ovary(1)|skin(1)	4		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		AAGCCTGAGCGTGAAGTGCCC	0.637																																																	0													21.0	21.0	21.0					8																	22458791		2192	4290	6482	SO:0001583	missense	541565			BC012750	CCDS34862.1, CCDS56527.1, CCDS75708.1	8p21.3	2010-08-17			ENSG00000241852	ENSG00000241852			32233	protein-coding gene	gene with protein product							Standard	NM_001013842		Approved	FLJ34715	uc003xce.3	Q8NAV2	OTTHUMG00000154160	ENST00000289989.5:c.437G>A	8.37:g.22458791G>A	ENSP00000289989:p.Arg146His		B4DI44	Missense_Mutation	SNP	NULL	p.R146H	ENST00000289989.5	37	c.437	CCDS34862.1	8	.	.	.	.	.	.	.	.	.	.	g	6.090	0.384833	0.11524	.	.	ENSG00000248235;ENSG00000241852;ENSG00000241852;ENSG00000241852	ENST00000450780;ENST00000409586;ENST00000289989;ENST00000381191	.	.	.	3.81	-3.43	0.04810	.	1.509220	0.04194	N	0.328796	T	0.11495	0.0280	N	0.08118	0	0.09310	N	1	B;B;B	0.33171	0.4;0.4;0.4	B;B;B	0.32289	0.069;0.143;0.092	T	0.08411	-1.0723	9	0.12103	T	0.63	10.7437	1.1217	0.01726	0.3897:0.1482:0.3115:0.1507	.	146;74;146	Q8NAV2-2;E7EQH9;Q8NAV2	.;.;CH058_HUMAN	H	215;146;146;74	.	ENSP00000399696:R215H	R	+	2	0	AC037459.4;C8orf58	22514736	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.290000	0.08354	-0.516000	0.06470	-0.533000	0.04299	CGT	C8orf58	-	NULL		0.637	C8orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf58	HGNC	protein_coding	OTTHUMT00000334183.1	G	NM_001013842		22458791	+1	no_errors	ENST00000289989	ensembl	human	known	70_37	missense	SNP	0.000	A
C9orf3	84909	genome.wustl.edu	37	9	97690776	97690776	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr9:97690776G>A	ENST00000375315.2	+	6	1624	c.1624G>A	c.(1624-1626)Gag>Aag	p.E542K	C9orf3_ENST00000395357.2_Missense_Mutation_p.E162K|RP11-54O15.3_ENST00000439872.1_RNA|C9orf3_ENST00000473778.1_3'UTR|C9orf3_ENST00000277198.2_Missense_Mutation_p.E542K|C9orf3_ENST00000297979.5_Intron	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	542					leukotriene biosynthetic process (GO:0019370)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		CCTCCAGGACGAGATGCAATG	0.597																																																	0																																										SO:0001583	missense	84909			AF043896	CCDS6713.1, CCDS55327.1, CCDS55328.1	9q22	2013-06-27			ENSG00000148120	ENSG00000148120			1361	protein-coding gene	gene with protein product	aminopeptidase O					15687497	Standard	NM_001193329		Approved	C90RF3, FLJ14675, APO, AOPEP, AP-O	uc004ava.3	Q8N6M6	OTTHUMG00000020276	ENST00000375315.2:c.1624G>A	9.37:g.97690776G>A	ENSP00000364464:p.Glu542Lys		Q5T9B1|Q5T9B3|Q5T9B4|Q8WUL6|Q96M23|Q96SS1	Missense_Mutation	SNP	pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold	p.E542K	ENST00000375315.2	37	c.1624	CCDS55328.1	9	.	.	.	.	.	.	.	.	.	.	G	21.8	4.198248	0.79015	.	.	ENSG00000148120	ENST00000277198;ENST00000375315;ENST00000428313;ENST00000395357	T;T;T;T	0.05025	3.51;3.51;3.51;3.51	5.14	5.14	0.70334	.	0.000000	0.85682	D	0.000000	T	0.21550	0.0519	L	0.49455	1.56	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.994;0.998;0.996	T	0.00066	-1.2145	10	0.46703	T	0.11	-20.7602	19.1628	0.93541	0.0:0.0:1.0:0.0	.	162;542;542	B4DKT1;Q8N6M6;Q8N6M6-3	.;AMPO_HUMAN;.	K	542;542;324;162	ENSP00000277198:E542K;ENSP00000364464:E542K;ENSP00000401854:E324K;ENSP00000378763:E162K	ENSP00000277198:E542K	E	+	1	0	C9orf3	96730597	1.000000	0.71417	0.482000	0.27366	0.153000	0.21895	7.699000	0.84547	2.837000	0.97791	0.655000	0.94253	GAG	C9orf3	-	NULL		0.597	C9orf3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf3	HGNC	protein_coding		G	NM_032823		97690776	+1	no_errors	ENST00000375315	ensembl	human	known	70_37	missense	SNP	0.999	A
CACNA1C	775	genome.wustl.edu	37	12	2797857	2797857	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr12:2797857G>A	ENST00000347598.4	+	48	6173	c.6173G>A	c.(6172-6174)aGa>aAa	p.R2058K	CACNA1C_ENST00000344100.3_Missense_Mutation_p.R2051K|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000335762.5_Missense_Mutation_p.R2035K|CACNA1C_ENST00000399655.1_Missense_Mutation_p.R2010K|CACNA1C_ENST00000399638.1_Missense_Mutation_p.R2038K|CACNA1C_ENST00000399606.1_Missense_Mutation_p.R2030K|CACNA1C_ENST00000399621.1_Missense_Mutation_p.R2029K|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000406454.3_Missense_Mutation_p.R2081K|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C_ENST00000399601.1_Missense_Mutation_p.R2010K|CACNA1C_ENST00000399591.1_Missense_Mutation_p.R2018K|CACNA1C_ENST00000399629.1_Missense_Mutation_p.R2027K|CACNA1C_ENST00000327702.7_Missense_Mutation_p.R2045K|CACNA1C_ENST00000399617.1_Missense_Mutation_p.R2045K|CACNA1C_ENST00000399649.1_Missense_Mutation_p.R2016K|CACNA1C_ENST00000399595.1_Missense_Mutation_p.R2018K|CACNA1C_ENST00000399597.1_Missense_Mutation_p.R2010K|CACNA1C_ENST00000399603.1_Missense_Mutation_p.R2010K|CACNA1C_ENST00000402845.3_Missense_Mutation_p.R2029K|CACNA1C_ENST00000399644.1_Missense_Mutation_p.R2010K|CACNA1C_ENST00000399637.1_Missense_Mutation_p.R2029K|CACNA1C_ENST00000399641.1_Missense_Mutation_p.R2010K|CACNA1C_ENST00000399634.1_Missense_Mutation_p.R2081K	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2093					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GCCGCCCGGAGAGTCCGGCCC	0.692																																																	0													17.0	21.0	20.0					12																	2797857		1907	4097	6004	SO:0001583	missense	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.6173G>A	12.37:g.2797857G>A	ENSP00000266376:p.Arg2058Lys		B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.R2081K	ENST00000347598.4	37	c.6242	CCDS44788.1	12	.	.	.	.	.	.	.	.	.	.	G	6.698	0.497470	0.12762	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.53423	0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62;0.62	5.21	1.3	0.21679	.	0.368951	0.25227	N	0.032191	T	0.43500	0.1250	N	0.22421	0.69	0.22479	N	0.999066	B;D;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.63046	0.002;0.992;0.001;0.123;0.004;0.001;0.001;0.001;0.0;0.001;0.002;0.001;0.001;0.001;0.0;0.011;0.001;0.0;0.002;0.0;0.001;0.001;0.002;0.001;0.001	B;P;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.59012	0.002;0.85;0.001;0.041;0.006;0.003;0.001;0.002;0.002;0.002;0.003;0.001;0.004;0.003;0.001;0.009;0.004;0.002;0.003;0.001;0.001;0.003;0.002;0.001;0.001	T	0.37361	-0.9709	10	0.20519	T	0.43	.	10.1409	0.42734	0.3377:0.0:0.6623:0.0	.	701;2051;2007;2093;2045;2029;2010;2027;2038;2010;2030;2010;2041;2058;2010;2045;2081;2018;2016;2018;1999;2029;2029;2010;2010	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	K	2035;2010;2010;2038;2010;2029;2029;2018;2010;2058;2030;2010;2051;2027;2045;2016;2029;2010;2081;2045;2081;2018;1911	ENSP00000336982:R2035K;ENSP00000382563:R2010K;ENSP00000382552:R2010K;ENSP00000382547:R2038K;ENSP00000382506:R2010K;ENSP00000382530:R2029K;ENSP00000382546:R2029K;ENSP00000382500:R2018K;ENSP00000382549:R2010K;ENSP00000266376:R2058K;ENSP00000382515:R2030K;ENSP00000382510:R2010K;ENSP00000341092:R2051K;ENSP00000382537:R2027K;ENSP00000329877:R2045K;ENSP00000382557:R2016K;ENSP00000385724:R2029K;ENSP00000382512:R2010K;ENSP00000382542:R2081K;ENSP00000382526:R2045K;ENSP00000385896:R2081K;ENSP00000382504:R2018K	ENSP00000323129:R1911K	R	+	2	0	CACNA1C	2668118	1.000000	0.71417	0.965000	0.40720	0.043000	0.13939	1.696000	0.37773	0.221000	0.20879	-0.369000	0.07265	AGA	CACNA1C	-	NULL		0.692	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	G	NM_000719		2797857	+1	no_errors	ENST00000399634	ensembl	human	known	70_37	missense	SNP	1.000	A
CACTIN	58509	genome.wustl.edu	37	19	3614486	3614486	+	Missense_Mutation	SNP	C	C	T	rs377058963		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:3614486C>T	ENST00000429344.2	-	7	1316	c.1264G>A	c.(1264-1266)Gag>Aag	p.E422K	CACTIN-AS1_ENST00000592274.1_RNA|CACTIN_ENST00000248420.5_Missense_Mutation_p.E422K|CACTIN_ENST00000221899.3_Missense_Mutation_p.E354K	NM_001080543.1	NP_001074012.1	Q8WUQ7	CATIN_HUMAN	cactin, spliceosome C complex subunit	422					cellular response to interleukin-1 (GO:0071347)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to tumor necrosis factor (GO:0071356)|innate immune response (GO:0045087)|mRNA splicing, via spliceosome (GO:0000398)|multicellular organismal development (GO:0007275)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										ATTTTGCCCTCGATGCCCTGG	0.632																																																	0								C	LYS/GLU,LYS/GLU	0,4136		0,0,2068	60.0	70.0	67.0		1264,1264	3.4	1.0	19		67	1,8409		0,1,4204	no	missense,missense	C19orf29	NM_001080543.1,NM_021231.1	56,56	0,1,6272	TT,TC,CC		0.0119,0.0,0.0080	probably-damaging,probably-damaging	422/759,422/759	3614486	1,12545	2068	4205	6273	SO:0001583	missense	58509			BC019848	CCDS45920.1	19p13.3	2012-06-08	2012-06-08	2012-06-08	ENSG00000105298	ENSG00000105298			29938	protein-coding gene	gene with protein product	"""NY REN 24 antigen"", ""functional spliceosome-associated protein c"", ""cactin homolog (Drosophila)"""		"""chromosome 19 open reading frame 29"""	C19orf29		8619474, 9110174, 21429463, 20829348	Standard	NM_001080543		Approved	NY-REN-24, fSAPc, cactin	uc002lyh.3	Q8WUQ7		ENST00000429344.2:c.1264G>A	19.37:g.3614486C>T	ENSP00000415078:p.Glu422Lys		A6NNA9|A9UL12|O75229|Q7LE08|Q9BTA6|Q9Y5A4	Missense_Mutation	SNP	pfam_Cactin_dom,pfam_Cactin_C	p.E354K	ENST00000429344.2	37	c.1060	CCDS45920.1	19	.	.	.	.	.	.	.	.	.	.	C	17.54	3.414260	0.62511	0.0	1.19E-4	ENSG00000105298	ENST00000429344;ENST00000248420;ENST00000446452;ENST00000221899	.	.	.	4.51	3.44	0.39384	Cactin, domain (1);	0.000000	0.85682	D	0.000000	T	0.65375	0.2685	L	0.42744	1.35	0.54753	D	0.999981	P;D	0.89917	0.566;1.0	B;D	0.68765	0.121;0.96	T	0.62544	-0.6832	9	0.33141	T	0.24	.	13.0592	0.58997	0.0:0.8367:0.1633:0.0	.	422;422	Q8WUQ7-2;Q8WUQ7	.;CS029_HUMAN	K	422;422;234;354	.	ENSP00000221899:E354K	E	-	1	0	C19orf29	3565486	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.203000	0.77864	1.074000	0.40909	0.561000	0.74099	GAG	CACTIN	-	pfam_Cactin_dom		0.632	CACTIN-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	CACTIN	HGNC	protein_coding	OTTHUMT00000457370.2	C			3614486	-1	no_errors	ENST00000221899	ensembl	human	known	70_37	missense	SNP	1.000	T
CADPS	8618	genome.wustl.edu	37	3	62860455	62860455	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:62860455C>T	ENST00000383710.4	-	1	599	c.250G>A	c.(250-252)Gct>Act	p.A84T	CADPS_ENST00000490353.2_Missense_Mutation_p.A84T|CADPS_ENST00000357948.3_Missense_Mutation_p.A84T|CADPS_ENST00000283269.9_Missense_Mutation_p.A84T	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	84					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CCGCCGCCAGCGCGGCTGCTG	0.771																																																	0													7.0	7.0	7.0					3																	62860455		1839	3537	5376	SO:0001583	missense	8618			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.250G>A	3.37:g.62860455C>T	ENSP00000373215:p.Ala84Thr		A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.A84T	ENST00000383710.4	37	c.250	CCDS46858.1	3	.	.	.	.	.	.	.	.	.	.	C	13.15	2.149943	0.37923	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	D;D;D;D	0.85702	-2.02;-2.02;-2.02;-2.02	4.91	3.12	0.35913	.	1.001530	0.08054	N	0.997115	T	0.71264	0.3319	N	0.08118	0	0.34777	D	0.734375	B;B;B	0.10296	0.003;0.003;0.002	B;B;B	0.04013	0.001;0.001;0.0	T	0.63941	-0.6523	10	0.42905	T	0.14	.	7.6674	0.28439	0.0:0.735:0.0:0.265	.	84;84;84	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	T	84	ENSP00000373215:A84T;ENSP00000350632:A84T;ENSP00000283269:A84T;ENSP00000418736:A84T	ENSP00000283269:A84T	A	-	1	0	CADPS	62835495	0.099000	0.21834	0.697000	0.30258	0.671000	0.39405	1.149000	0.31626	0.498000	0.27948	0.561000	0.74099	GCT	CADPS	-	NULL		0.771	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	HGNC	protein_coding	OTTHUMT00000351951.5	C	NM_003716, NM_183393, NM_183394		62860455	-1	no_errors	ENST00000383710	ensembl	human	known	70_37	missense	SNP	0.998	T
CASP8	841	genome.wustl.edu	37	2	202149616	202149616	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr2:202149616G>T	ENST00000432109.2	+	9	1069	c.880G>T	c.(880-882)Gag>Tag	p.E294*	CASP8_ENST00000264275.5_Nonsense_Mutation_p.E311*|CASP8_ENST00000358485.4_Nonsense_Mutation_p.E353*|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000323492.7_Nonsense_Mutation_p.E279*|CASP8_ENST00000264274.9_Nonsense_Mutation_p.E210*	NM_033355.3	NP_203519.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	294				E -> D (in Ref. 5; AAD24962). {ECO:0000305}.	activation of cysteine-type endopeptidase activity (GO:0097202)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell activation (GO:0042113)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|execution phase of apoptosis (GO:0097194)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|heart development (GO:0007507)|hepatocyte apoptotic process (GO:0097284)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway (GO:0097193)|macrophage differentiation (GO:0030225)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|natural killer cell activation (GO:0030101)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of necroptotic process (GO:0060546)|neural tube formation (GO:0001841)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of proteolysis (GO:0045862)|protein heterooligomerization (GO:0051291)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of thymocyte apoptotic process (GO:0070243)|response to antibiotic (GO:0046677)|response to cobalt ion (GO:0032025)|response to cold (GO:0009409)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|syncytiotrophoblast cell differentiation involved in labyrinthine layer development (GO:0060715)|T cell activation (GO:0042110)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRAIL-activated apoptotic signaling pathway (GO:0036462)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	CD95 death-inducing signaling complex (GO:0031265)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|death-inducing signaling complex (GO:0031264)|membrane raft (GO:0045121)|microtubule organizing center (GO:0005815)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|Noc1p-Noc2p complex (GO:0030690)|nucleus (GO:0005634)|ripoptosome (GO:0097342)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type endopeptidase activity involved in apoptotic process (GO:0097153)|cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097199)|cysteine-type peptidase activity (GO:0008234)|death effector domain binding (GO:0035877)|peptidase activity (GO:0008233)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						GCAAATCTATGAGATTTTGAA	0.443										HNSCC(4;0.00038)																											Melanoma(82;831 1348 20716 36952 40159)												0													129.0	116.0	121.0					2																	202149616		2203	4300	6503	SO:0001587	stop_gained	841			U60520	CCDS2342.1, CCDS2343.1, CCDS2345.1, CCDS42798.1, CCDS42799.1	2q33-q34	2014-09-17	2005-08-17		ENSG00000064012	ENSG00000064012		"""Caspases"""	1509	protein-coding gene	gene with protein product		601763	"""caspase 8, apoptosis-related cysteine protease"""			8681376, 8681377	Standard	NM_033355		Approved	MCH5, MACH, FLICE, Casp-8	uc002uxt.1	Q14790	OTTHUMG00000132821	ENST00000432109.2:c.880G>T	2.37:g.202149616G>T	ENSP00000412523:p.Glu294*		O14676|Q14791|Q14792|Q14793|Q14794|Q14795|Q14796|Q15780|Q15806|Q53TT5|Q8TDI1|Q8TDI2|Q8TDI3|Q8TDI4|Q8TDI5|Q96T22|Q9C0K4|Q9UQ81	Nonsense_Mutation	SNP	pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core	p.E353*	ENST00000432109.2	37	c.1057	CCDS2342.1	2	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444729	0.63178	.	.	ENSG00000064012	ENST00000392263;ENST00000264274;ENST00000432109;ENST00000264275;ENST00000358485;ENST00000323492;ENST00000444430	.	.	.	5.6	2.72	0.32119	.	1.094080	0.06719	N	0.774478	.	.	.	.	.	.	0.21499	N	0.999661	.	.	.	.	.	.	.	.	.	.	0.30078	T	0.28	.	10.5338	0.44992	0.1838:0.0998:0.7164:0.0	.	.	.	.	X	279;210;294;311;353;279;73	.	ENSP00000264274:E210X	E	+	1	0	CASP8	201857861	0.000000	0.05858	0.011000	0.14972	0.003000	0.03518	-0.456000	0.06754	0.337000	0.23665	-0.797000	0.03246	GAG	CASP8	-	pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20		0.443	CASP8-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	CASP8	HGNC	protein_coding	OTTHUMT00000336853.2	G	NM_001228		202149616	+1	no_errors	ENST00000358485	ensembl	human	known	70_37	nonsense	SNP	0.004	T
CBFA2T3	863	genome.wustl.edu	37	16	88968057	88968057	+	Silent	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr16:88968057C>T	ENST00000268679.4	-	2	555	c.159G>A	c.(157-159)gtG>gtA	p.V53V	CBFA2T3_ENST00000448839.1_Intron|CBFA2T3_ENST00000436887.2_Silent_p.V53V|CBFA2T3_ENST00000327483.5_5'UTR|CBFA2T3_ENST00000360302.2_5'UTR	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	53	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus. {ECO:0000250}.|Pro-rich.|Required for nucleolar targeting (in isoform 1).				cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CTTTCCTGTCCACTGGGGCTG	0.677			T	RUNX1	AML																																			Dom	yes		16	16q24	863	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"""		L	0													32.0	35.0	34.0					16																	88968057		2197	4299	6496	SO:0001819	synonymous_variant	863			AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"""Zinc fingers, MYND-type"", ""A-kinase anchor proteins"""	1537	protein-coding gene	gene with protein product	"""myeloid translocation gene 8 and 16b"""	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.159G>A	16.37:g.88968057C>T			D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Silent	SNP	pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG16	p.V53	ENST00000268679.4	37	c.159	CCDS10972.1	16																																																																																			CBFA2T3	-	NULL		0.677	CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CBFA2T3	HGNC	protein_coding	OTTHUMT00000269545.2	C	NM_005187		88968057	-1	no_errors	ENST00000268679	ensembl	human	known	70_37	silent	SNP	0.000	T
CCDC120	90060	genome.wustl.edu	37	X	48924808	48924808	+	Silent	SNP	C	C	T	rs373591820		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chrX:48924808C>T	ENST00000376396.3	+	10	1272	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	CCDC120_ENST00000422185.2_Silent_p.F351F|CCDC120_ENST00000603986.1_Silent_p.F386F|CCDC120_ENST00000496529.2_Silent_p.F351F|CCDC120_ENST00000597275.1_Silent_p.F351F|CCDC120_ENST00000536628.2_Silent_p.F339F	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	351										breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CCTCCCTCTTCGTAGCTCGCA	0.701																																																	0								C	,,,	1,3824		0,1,1627,569	18.0	19.0	18.0		1053,1017,1017,1053	1.6	1.0	X		18	0,6689		0,0,2421,1847	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CCDC120	NM_001163321.1,NM_001163322.1,NM_001163323.1,NM_033626.2	,,,	0,1,4048,2416	TT,TC,CC,C		0.0,0.0261,0.0095	,,,	351/662,339/650,339/619,351/631	48924808	1,10513	2197	4268	6465	SO:0001819	synonymous_variant	90060			BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.1053C>T	X.37:g.48924808C>T			B4DFC1|B4DTU2|F5GZU4	Silent	SNP	pfam_DUF3338	p.F351	ENST00000376396.3	37	c.1053	CCDS14316.1	X																																																																																			CCDC120	-	NULL		0.701	CCDC120-001	KNOWN	basic|CCDS	protein_coding	CCDC120	HGNC	protein_coding	OTTHUMT00000056528.1	C	NM_033626		48924808	+1	no_errors	ENST00000422185	ensembl	human	known	70_37	silent	SNP	0.858	T
CCDC40	55036	genome.wustl.edu	37	17	78013713	78013713	+	Missense_Mutation	SNP	G	G	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr17:78013713G>C	ENST00000397545.4	+	3	223	c.196G>C	c.(196-198)Gag>Cag	p.E66Q	CCDC40_ENST00000374876.4_Missense_Mutation_p.E66Q|CCDC40_ENST00000269318.5_Missense_Mutation_p.E66Q|CCDC40_ENST00000374877.3_Missense_Mutation_p.E66Q	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	66					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGCAATTGAAgagggggaggt	0.522																																																	0													54.0	57.0	56.0					17																	78013713		1987	4169	6156	SO:0001583	missense	55036			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.196G>C	17.37:g.78013713G>C	ENSP00000380679:p.Glu66Gln		A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	pfam_E3_ubiquit_lig_BRE1	p.E66Q	ENST00000397545.4	37	c.196	CCDS42395.1	17	.	.	.	.	.	.	.	.	.	.	G	9.670	1.146553	0.21288	.	.	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	T;D;T;T	0.84873	0.25;-1.91;0.25;0.35	3.36	2.39	0.29439	.	.	.	.	.	T	0.67163	0.2864	N	0.19112	0.55	0.09310	N	1	P;B	0.46020	0.871;0.006	B;B	0.31812	0.136;0.001	T	0.56811	-0.7917	9	0.28530	T	0.3	.	6.9146	0.24354	0.1255:0.0:0.8745:0.0	.	66;66	Q4G0X9-5;Q4G0X9	.;CCD40_HUMAN	Q	66	ENSP00000364011:E66Q;ENSP00000269318:E66Q;ENSP00000364010:E66Q;ENSP00000380679:E66Q	ENSP00000269318:E66Q	E	+	1	0	CCDC40	75628308	0.000000	0.05858	0.005000	0.12908	0.003000	0.03518	-0.119000	0.10676	1.016000	0.39470	-0.125000	0.14975	GAG	CCDC40	-	NULL		0.522	CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC40	HGNC	protein_coding	OTTHUMT00000256005.2	G	XM_371082		78013713	+1	no_errors	ENST00000397545	ensembl	human	known	70_37	missense	SNP	0.005	C
CCDC88B	283234	genome.wustl.edu	37	11	64119761	64119761	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr11:64119761C>T	ENST00000356786.5	+	19	3303	c.3259C>T	c.(3259-3261)Cgg>Tgg	p.R1087W	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.R239W|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1087						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCTGCAGCGGCGGCAGGAGGC	0.726																																																	0													13.0	15.0	14.0					11																	64119761		2165	4209	6374	SO:0001583	missense	283234			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.3259C>T	11.37:g.64119761C>T	ENSP00000349238:p.Arg1087Trp		A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Missense_Mutation	SNP	pfam_HOOK	p.R1087W	ENST00000356786.5	37	c.3259	CCDS8072.2	11	.	.	.	.	.	.	.	.	.	.	c	19.79	3.893860	0.72639	.	.	ENSG00000168071	ENST00000356786;ENST00000359902	T;T	0.56941	1.42;0.43	4.88	2.72	0.32119	.	.	.	.	.	T	0.69833	0.3155	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	T	0.72633	-0.4234	9	0.72032	D	0.01	.	10.9094	0.47099	0.3496:0.6504:0.0:0.0	.	1087;223;1087	B2RTU8;A6NC98-5;A6NC98	.;.;CC88B_HUMAN	W	1087;239	ENSP00000349238:R1087W;ENSP00000352974:R239W	ENSP00000349238:R1087W	R	+	1	2	CCDC88B	63876337	0.764000	0.28473	1.000000	0.80357	0.992000	0.81027	-0.277000	0.08502	1.021000	0.39600	0.462000	0.41574	CGG	CCDC88B	-	NULL		0.726	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88B	HGNC	protein_coding	OTTHUMT00000104845.1	C	NM_032251		64119761	+1	no_errors	ENST00000356786	ensembl	human	known	70_37	missense	SNP	1.000	T
CD72	971	genome.wustl.edu	37	9	35616190	35616190	+	Silent	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr9:35616190C>T	ENST00000396757.1	-	6	602	c.438G>A	c.(436-438)aaG>aaA	p.K146K	CD72_ENST00000378431.1_3'UTR|CD72_ENST00000259633.4_Silent_p.K146K|CD72_ENST00000490239.1_5'UTR			P21854	CD72_HUMAN	CD72 molecule	146					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor binding (GO:0005102)|transmembrane signaling receptor activity (GO:0004888)			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GCTGCGTTATCTTGAGGCGGA	0.582																																																	0													59.0	56.0	57.0					9																	35616190		2203	4300	6503	SO:0001819	synonymous_variant	971				CCDS6581.1	9p	2008-07-21	2006-03-28		ENSG00000137101	ENSG00000137101		"""CD molecules"""	1696	protein-coding gene	gene with protein product		107272	"""CD72 antigen"""			2044654, 1711157	Standard	NM_001782		Approved	LYB2, CD72b	uc003zxb.2	P21854	OTTHUMG00000019870	ENST00000396757.1:c.438G>A	9.37:g.35616190C>T				Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.K146	ENST00000396757.1	37	c.438	CCDS6581.1	9																																																																																			CD72	-	NULL		0.582	CD72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD72	HGNC	protein_coding	OTTHUMT00000052336.1	C	NM_001782		35616190	-1	no_errors	ENST00000259633	ensembl	human	known	70_37	silent	SNP	0.000	T
ATAD1	84896	genome.wustl.edu	37	10	89603785	89603785	+	5'Flank	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr10:89603785G>A	ENST00000495903.1	-	0	0				CFL1P1_ENST00000438248.1_RNA			Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1						ATP catabolic process (GO:0006200)|learning (GO:0007612)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|positive regulation of receptor internalization (GO:0002092)	cell junction (GO:0030054)|membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal membrane (GO:0005778)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		CGGAGGCCAAGAAGATCCTGG	0.478																																																	0																																										SO:0001631	upstream_gene_variant	142913			AL834370	CCDS7386.1	10q23.31	2010-04-21		2007-02-08	ENSG00000138138	ENSG00000138138		"""ATPases / AAA-type"""	25903	protein-coding gene	gene with protein product		614452				12477932	Standard	NM_032810		Approved	FLJ14600	uc001kez.1	Q8NBU5	OTTHUMG00000018685		10.37:g.89603785G>A	Exception_encountered		D3DR26|Q6DKG1|Q6P4B9|Q8N3G1|Q8WYR9|Q969Y3	RNA	SNP	-	NULL	ENST00000495903.1	37	NULL		10																																																																																			CFL1P1	-	-		0.478	ATAD1-004	KNOWN	basic	processed_transcript	CFL1P1	HGNC	protein_coding	OTTHUMT00000049238.1	G	NM_032810		89603785	+1	no_errors	ENST00000438248	ensembl	human	known	70_37	rna	SNP	0.998	A
CHRNA6	8973	genome.wustl.edu	37	8	42611231	42611231	+	Missense_Mutation	SNP	G	G	T	rs148005281	byFrequency	TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr8:42611231G>T	ENST00000276410.2	-	5	1466	c.1111C>A	c.(1111-1113)Ccc>Acc	p.P371T	CHRNA6_ENST00000534622.1_Missense_Mutation_p.P356T|CHRNA6_ENST00000530869.1_5'Flank	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	371					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|membrane depolarization (GO:0051899)|regulation of dopamine secretion (GO:0014059)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)		Galantamine(DB00674)|Nicotine(DB00184)|Varenicline(DB01273)	AGGCCTCTGGGCACTGCATCA	0.557																																																	0													66.0	62.0	63.0					8																	42611231		2203	4300	6503	SO:0001583	missense	8973			U62435	CCDS6135.1, CCDS56536.1	8p22	2012-02-11	2012-02-07					"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	15963	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 6 (neuronal)"""	606888	"""cholinergic receptor, nicotinic, alpha polypeptide 6"""			8906617	Standard	NM_004198		Approved		uc003xpj.3	Q15825		ENST00000276410.2:c.1111C>A	8.37:g.42611231G>T	ENSP00000276410:p.Pro371Thr		B2R8V4|B4DQH1	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.P371T	ENST00000276410.2	37	c.1111	CCDS6135.1	8	.	.	.	.	.	.	.	.	.	.	G	0.611	-0.824854	0.02755	.	.	ENSG00000147434	ENST00000276410;ENST00000534622	D;D	0.84944	-1.92;-1.92	6.07	1.7	0.24286	Neurotransmitter-gated ion-channel transmembrane domain (2);	5.584930	0.00926	N	0.002653	T	0.79299	0.4422	L	0.45228	1.405	0.09310	N	1	B;B	0.13594	0.008;0.008	B;B	0.25987	0.065;0.065	T	0.56613	-0.7950	10	0.11485	T	0.65	.	3.504	0.07684	0.4712:0.0:0.348:0.1807	.	356;371	B4DQH1;Q15825	.;ACHA6_HUMAN	T	371;356	ENSP00000276410:P371T;ENSP00000433871:P356T	ENSP00000276410:P371T	P	-	1	0	CHRNA6	42730388	0.001000	0.12720	0.045000	0.18777	0.006000	0.05464	0.627000	0.24506	0.420000	0.25954	0.655000	0.94253	CCC	CHRNA6	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel		0.557	CHRNA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRNA6	HGNC	protein_coding	OTTHUMT00000383156.1	G			42611231	-1	no_errors	ENST00000276410	ensembl	human	known	70_37	missense	SNP	0.000	T
CHD7	55636	genome.wustl.edu	37	8	61693914	61693914	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr8:61693914C>T	ENST00000423902.2	+	3	2500	c.2021C>T	c.(2020-2022)cCt>cTt	p.P674L	CHD7_ENST00000525508.1_Missense_Mutation_p.P674L|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	674	Lys-rich.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCGAAAGCCCCTAAGATTCCC	0.443																																																	1	Insertion - In frame(1)	lung(1)											34.0	38.0	37.0					8																	61693914		1803	4063	5866	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.2021C>T	8.37:g.61693914C>T	ENSP00000392028:p.Pro674Leu		D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.P674L	ENST00000423902.2	37	c.2021	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	C	29.4	5.002972	0.93287	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	D;T	0.81739	-1.53;-1.17	5.36	5.36	0.76844	.	0.000000	0.45867	D	0.000337	D	0.85296	0.5664	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.81784	-0.0774	10	0.24483	T	0.36	-12.3999	19.4501	0.94863	0.0:1.0:0.0:0.0	.	674	Q9P2D1	CHD7_HUMAN	L	674	ENSP00000392028:P674L;ENSP00000436027:P674L	ENSP00000307304:P674L	P	+	2	0	CHD7	61856468	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.768000	0.74980	2.678000	0.91216	0.563000	0.77884	CCT	CHD7	-	NULL		0.443	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	C	XM_098762		61693914	+1	no_errors	ENST00000307121	ensembl	human	known	70_37	missense	SNP	1.000	T
COL16A1	1307	genome.wustl.edu	37	1	32131524	32131524	+	Missense_Mutation	SNP	C	C	G			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:32131524C>G	ENST00000373672.3	-	54	3931	c.3415G>C	c.(3415-3417)Gag>Cag	p.E1139Q	COL16A1_ENST00000271069.6_Missense_Mutation_p.E1139Q	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1139	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GGTCCTCGCTCTCCTCTGGGA	0.617																																					Colon(143;498 1786 21362 25193 36625)												0													121.0	129.0	126.0					1																	32131524		2123	4240	6363	SO:0001583	missense	1307			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.3415G>C	1.37:g.32131524C>G	ENSP00000362776:p.Glu1139Gln		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.E1139Q	ENST00000373672.3	37	c.3415	CCDS41297.1	1	.	.	.	.	.	.	.	.	.	.	C	13.87	2.367459	0.42003	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000440437	D;D;D	0.93366	-3.21;-3.21;-3.17	4.45	4.45	0.53987	.	0.130982	0.49916	D	0.000121	D	0.93249	0.7849	L	0.33485	1.01	0.37635	D	0.92181	D;D	0.67145	0.993;0.996	D;D	0.75484	0.968;0.986	D	0.91275	0.5047	10	0.15952	T	0.53	.	12.9657	0.58483	0.0:1.0:0.0:0.0	.	1139;1138	Q07092;Q07092-2	COGA1_HUMAN;.	Q	1139;1139;20	ENSP00000362776:E1139Q;ENSP00000271069:E1139Q;ENSP00000390281:E20Q	ENSP00000271069:E1139Q	E	-	1	0	COL16A1	31904111	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	2.006000	0.40874	2.207000	0.71202	0.455000	0.32223	GAG	COL16A1	-	pfam_Collagen		0.617	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL16A1	HGNC	protein_coding	OTTHUMT00000011057.2	C	NM_001856		32131524	-1	no_errors	ENST00000271069	ensembl	human	known	70_37	missense	SNP	1.000	G
COL4A3BP	10087	genome.wustl.edu	37	5	74722252	74722252	+	Missense_Mutation	SNP	C	C	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr5:74722252C>A	ENST00000405807.4	-	4	821	c.400G>T	c.(400-402)Gtg>Ttg	p.V134L	COL4A3BP_ENST00000261415.7_Missense_Mutation_p.V134L|COL4A3BP_ENST00000380494.5_Missense_Mutation_p.V262L	NM_005713.2	NP_005704.1	Q9Y5P4	C43BP_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen) binding protein	134					cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|ceramide metabolic process (GO:0006672)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi ceramide transport (GO:0035621)|heart morphogenesis (GO:0003007)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|lipid homeostasis (GO:0055088)|mitochondrion morphogenesis (GO:0070584)|muscle contraction (GO:0006936)|protein phosphorylation (GO:0006468)|response to endoplasmic reticulum stress (GO:0034976)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ceramide binding (GO:0097001)|ceramide transporter activity (GO:0035620)|phosphatidylinositol-4-phosphate binding (GO:0070273)|protein kinase activity (GO:0004672)			breast(1)|kidney(1)|large_intestine(5)|lung(4)|skin(3)|stomach(1)|urinary_tract(1)	16		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;1e-53)		ACCAGGGACACCATTGAGCCA	0.373																																																	0													110.0	101.0	104.0					5																	74722252		2203	4300	6503	SO:0001583	missense	10087			AF136450	CCDS4028.1, CCDS4029.1, CCDS47235.1	5q13.3	2013-01-10	2007-06-08	2007-06-08	ENSG00000113163	ENSG00000113163		"""StAR-related lipid transfer (START) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2205	protein-coding gene	gene with protein product	"""ceramide transporter"", ""StAR-related lipid transfer (START) domain containing 11"""	604677				10212244	Standard	NM_001130105		Approved	GPBP, STARD11, CERT	uc003kdt.3	Q9Y5P4	OTTHUMG00000102068	ENST00000405807.4:c.400G>T	5.37:g.74722252C>A	ENSP00000383996:p.Val134Leu		A8K7S2|B3KUB7|Q53YV1|Q53YV2|Q96Q85|Q96Q88|Q9H2S7|Q9H2S8	Missense_Mutation	SNP	pfam_START_lipid-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_START_lipid-bd,pfscan_Pleckstrin_homology,pfscan_START_lipid-bd	p.V262L	ENST00000405807.4	37	c.784	CCDS4028.1	5	.	.	.	.	.	.	.	.	.	.	C	13.85	2.359349	0.41801	.	.	ENSG00000113163	ENST00000405807;ENST00000380494;ENST00000261415	T;T;T	0.31510	1.55;1.49;1.54	5.47	5.47	0.80525	.	0.060079	0.64402	D	0.000002	T	0.14098	0.0341	N	0.02296	-0.605	0.48830	D	0.999716	B;B;B	0.12013	0.002;0.005;0.001	B;B;B	0.11329	0.002;0.006;0.003	T	0.16158	-1.0412	10	0.06891	T	0.86	-1.0669	19.3204	0.94236	0.0:1.0:0.0:0.0	.	134;262;134	Q9Y5P4;Q9Y5P4-3;Q9Y5P4-2	C43BP_HUMAN;.;.	L	134;262;134	ENSP00000383996:V134L;ENSP00000369862:V262L;ENSP00000261415:V134L	ENSP00000261415:V134L	V	-	1	0	COL4A3BP	74758008	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.646000	0.46630	2.558000	0.86282	0.591000	0.81541	GTG	COL4A3BP	-	NULL		0.373	COL4A3BP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A3BP	HGNC	protein_coding	OTTHUMT00000219875.2	C	NM_005713		74722252	-1	no_errors	ENST00000380494	ensembl	human	known	70_37	missense	SNP	1.000	A
COL9A1	1297	genome.wustl.edu	37	6	70991093	70991093	+	Splice_Site	SNP	G	G	A	rs199570724		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:70991093G>A	ENST00000357250.6	-	8	1034	c.876C>T	c.(874-876)gaC>gaT	p.D292D	COL9A1_ENST00000489611.1_5'Flank|COL9A1_ENST00000370496.3_Splice_Site_p.D292D|COL9A1_ENST00000370499.4_Splice_Site_p.D49D|COL9A1_ENST00000320755.7_Splice_Site_p.D49D	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	292	Collagen-like 1.|Triple-helical region (COL3).				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|growth plate cartilage development (GO:0003417)|organ morphogenesis (GO:0009887)|tissue homeostasis (GO:0001894)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AGAAACTTACGTCGATGCCAT	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		15393	0.0		0.001	False		,,,				2504	0.0																0								G	,	0,4406		0,0,2203	27.0	30.0	29.0		876,147	-2.0	1.0	6		29	1,8599	1.2+/-3.3	0,1,4299	yes	coding-synonymous-near-splice,coding-synonymous-near-splice	COL9A1	NM_001851.4,NM_078485.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	292/922,49/679	70991093	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	1297				CCDS4971.1, CCDS47447.1	6q13	2013-05-07			ENSG00000112280	ENSG00000112280		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2217	protein-coding gene	gene with protein product		120210				1429648	Standard	NM_001851		Approved		uc003pfg.4	P20849	OTTHUMG00000014988	ENST00000357250.6:c.876+1C>T	6.37:g.70991093G>A			Q13699|Q13700|Q5TF52|Q6P467|Q96BM8|Q99225|Q9H151|Q9H152|Q9Y6P2|Q9Y6P3	Silent	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.D292	ENST00000357250.6	37	c.876	CCDS4971.1	6																																																																																			COL9A1	-	pfam_Collagen		0.562	COL9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A1	HGNC	protein_coding	OTTHUMT00000041131.2	G		Silent	70991093	-1	no_errors	ENST00000357250	ensembl	human	known	70_37	silent	SNP	0.987	A
CREBBP	1387	genome.wustl.edu	37	16	3900710	3900710	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr16:3900710G>T	ENST00000262367.5	-	2	1195	c.386C>A	c.(385-387)tCa>tAa	p.S129*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.S129*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	129					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCTGGGGGCTGAAGAATCTCC	0.647			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													42.0	43.0	43.0					16																	3900710		2197	4300	6497	SO:0001587	stop_gained	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.386C>A	16.37:g.3900710G>T	ENSP00000262367:p.Ser129*		D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.S129*	ENST00000262367.5	37	c.386	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	G	45	11.384969	0.99554	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	.	.	.	5.73	4.77	0.60923	.	0.496860	0.20213	N	0.096860	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-4.7213	15.3598	0.74464	0.0:0.0:0.8599:0.1401	.	.	.	.	X	129;197;129	.	ENSP00000262367:S129X	S	-	2	0	CREBBP	3840711	1.000000	0.71417	0.902000	0.35471	0.982000	0.71751	5.844000	0.69430	1.393000	0.46605	0.555000	0.69702	TCA	CREBBP	-	NULL		0.647	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	G	NM_004380		3900710	-1	no_errors	ENST00000262367	ensembl	human	known	70_37	nonsense	SNP	0.997	T
COX4I1	1327	genome.wustl.edu	37	16	85839284	85839284	+	Intron	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr16:85839284G>A	ENST00000562336.1	+	4	434				COX4I1_ENST00000561569.1_Intron|COX4I1_ENST00000568794.1_Intron|COX4I1_ENST00000253452.2_Intron|COX4I1_ENST00000564903.1_Intron|COX4I1_ENST00000570123.1_3'UTR			P13073	COX41_HUMAN	cytochrome c oxidase subunit IV isoform 1						cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|hydrogen ion transmembrane transport (GO:1902600)|respiratory electron transport chain (GO:0022904)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	cytochrome-c oxidase activity (GO:0004129)			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9		Renal(780;0.228)				GAATGTTGCAGAGGAGGGAGC	0.512																																																	0																																										SO:0001627	intron_variant	1327			AF005889	CCDS10955.1	16q24.1	2012-10-02	2001-11-30	2001-12-07	ENSG00000131143	ENSG00000131143	1.9.3.1	"""Mitochondrial respiratory chain complex / Complex IV"""	2265	protein-coding gene	gene with protein product		123864	"""cytochrome c oxidase subunit IV"""	COX4		2444497, 2157630	Standard	NM_001861		Approved	COX4-1	uc002fje.3	P13073	OTTHUMG00000137649	ENST00000562336.1:c.242-55G>A	16.37:g.85839284G>A			B2R4J2|D3DUM7|Q6P666	RNA	SNP	-	NULL	ENST00000562336.1	37	NULL	CCDS10955.1	16																																																																																			COX4I1	-	-		0.512	COX4I1-016	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	COX4I1	HGNC	protein_coding	OTTHUMT00000430873.1	G	NM_001861		85839284	+1	no_errors	ENST00000569997	ensembl	human	known	70_37	rna	SNP	0.000	A
CRNKL1	51340	genome.wustl.edu	37	20	20033073	20033073	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr20:20033073C>T	ENST00000377340.2	-	2	428	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	C20orf26_ENST00000245957.5_5'Flank|CRNKL1_ENST00000536226.1_5'UTR|C20orf26_ENST00000377309.2_5'Flank|C20orf26_ENST00000389656.3_5'Flank|CRNKL1_ENST00000377327.4_Missense_Mutation_p.E121K|C20orf26_ENST00000377306.1_5'Flank	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	133					mRNA splicing, via spliceosome (GO:0000398)|spliceosomal complex assembly (GO:0000245)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						ACAAAGCTTTCAGAAAACAAA	0.582																																																	0													72.0	73.0	73.0					20																	20033073		2203	4300	6503	SO:0001583	missense	51340			AF255443	CCDS33446.1, CCDS63238.1, CCDS63239.1	20p11.2	2013-10-03	2013-10-03		ENSG00000101343	ENSG00000101343			15762	protein-coding gene	gene with protein product	"""SYF3 pre-mRNA-splicing factor"""	610952	"""crooked neck (Drosophila Crn homolog)-like 1"", ""Crn, crooked neck-like 1 (Drosophila)"", ""crooked neck pre-mRNA splicing factor-like 1 (Drosophila)"""				Standard	NM_016652		Approved	CRN, CLF, SYF3, Clf1	uc002wrs.3	Q9BZJ0	OTTHUMG00000032000	ENST00000377340.2:c.397G>A	20.37:g.20033073C>T	ENSP00000366557:p.Glu133Lys		A8K9T4|Q5JY64|Q8WYI5|Q9BZI9|Q9BZJ1|Q9BZJ2|Q9GZW7|Q9H8F8|Q9NQH5|Q9NYD8	Missense_Mutation	SNP	pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom	p.E133K	ENST00000377340.2	37	c.397	CCDS33446.1	20	.	.	.	.	.	.	.	.	.	.	C	13.10	2.137684	0.37728	.	.	ENSG00000101343	ENST00000377327;ENST00000377340	T;T	0.30182	1.54;1.54	5.07	3.14	0.36123	.	2.510670	0.01708	N	0.027532	T	0.20618	0.0496	N	0.08118	0	0.24587	N	0.993844	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.0	T	0.23440	-1.0188	10	0.87932	D	0	0.1442	7.8113	0.29232	0.0:0.811:0.0:0.189	.	121;133	Q5JY65;Q9BZJ0	.;CRNL1_HUMAN	K	121;133	ENSP00000366544:E121K;ENSP00000366557:E133K	ENSP00000366544:E121K	E	-	1	0	CRNKL1	19981073	0.028000	0.19301	0.002000	0.10522	0.007000	0.05969	0.497000	0.22514	0.723000	0.32274	0.655000	0.94253	GAA	CRNKL1	-	NULL		0.582	CRNKL1-002	KNOWN	basic|CCDS	protein_coding	CRNKL1	HGNC	protein_coding	OTTHUMT00000127787.1	C			20033073	-1	no_errors	ENST00000377340	ensembl	human	known	70_37	missense	SNP	0.004	T
CRYGC	1420	genome.wustl.edu	37	2	208993004	208993004	+	Missense_Mutation	SNP	C	C	G			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr2:208993004C>G	ENST00000282141.3	-	3	485	c.448G>C	c.(448-450)Gag>Cag	p.E150Q		NM_020989.3	NP_066269.1	P07315	CRGC_HUMAN	crystallin, gamma C	150	Beta/gamma crystallin 'Greek key' 4. {ECO:0000255|PROSITE-ProRule:PRU00028}.				camera-type eye development (GO:0043010)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	structural constituent of eye lens (GO:0005212)			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		CGCCTGTACTCTTGGGGCCTC	0.582																																																	0													60.0	65.0	63.0					2																	208993004		2203	4300	6503	SO:0001583	missense	1420				CCDS2379.1	2q33.3	2013-02-14			ENSG00000163254	ENSG00000163254			2410	protein-coding gene	gene with protein product		123680		CRYG3			Standard	NM_020989		Approved		uc002vco.4	P07315	OTTHUMG00000132942	ENST00000282141.3:c.448G>C	2.37:g.208993004C>G	ENSP00000282141:p.Glu150Gln		Q53R50	Missense_Mutation	SNP	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin	p.E150Q	ENST00000282141.3	37	c.448	CCDS2379.1	2	.	.	.	.	.	.	.	.	.	.	C	15.85	2.953438	0.53293	.	.	ENSG00000163254	ENST00000282141	T	0.79845	-1.31	4.98	4.04	0.47022	Beta/gamma crystallin (5);Gamma-crystallin-related (1);	0.054082	0.64402	D	0.000001	D	0.82407	0.5030	M	0.86864	2.845	0.53005	D	0.999969	B	0.26809	0.16	B	0.28465	0.09	D	0.83637	0.0148	10	0.59425	D	0.04	.	12.8254	0.57716	0.0:0.8342:0.1658:0.0	.	150	P07315	CRGC_HUMAN	Q	150	ENSP00000282141:E150Q	ENSP00000282141:E150Q	E	-	1	0	CRYGC	208701249	0.996000	0.38824	0.869000	0.34112	0.987000	0.75469	3.653000	0.54446	2.479000	0.83701	0.557000	0.71058	GAG	CRYGC	-	pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin		0.582	CRYGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYGC	HGNC	protein_coding	OTTHUMT00000256474.1	C	NM_020989		208993004	-1	no_errors	ENST00000282141	ensembl	human	known	70_37	missense	SNP	0.997	G
CUX1	1523	genome.wustl.edu	37	7	101845035	101845035	+	Missense_Mutation	SNP	T	T	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr7:101845035T>C	ENST00000292535.7	+	18	2496	c.2458T>C	c.(2458-2460)Tgg>Cgg	p.W820R	CUX1_ENST00000547394.2_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.W662R|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000360264.3_Missense_Mutation_p.W831R|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.W798R|CUX1_ENST00000550008.2_Missense_Mutation_p.W764R|CUX1_ENST00000546411.2_Missense_Mutation_p.W718R|CUX1_ENST00000560541.1_Intron	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	820					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CAGCGGTGCCTGGAAGGACCA	0.672																																																	0													21.0	25.0	24.0					7																	101845035		2202	4300	6502	SO:0001583	missense	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.2458T>C	7.37:g.101845035T>C	ENSP00000292535:p.Trp820Arg		B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Missense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.W831R	ENST00000292535.7	37	c.2491	CCDS5721.1	7	.	.	.	.	.	.	.	.	.	.	T	19.01	3.743618	0.69418	.	.	ENSG00000257923	ENST00000360264;ENST00000292535;ENST00000549414;ENST00000550008;ENST00000546411;ENST00000556210	T;T;T;T;T;T	0.65732	-0.08;-0.11;-0.15;-0.16;-0.11;-0.17	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.75496	0.3857	M	0.67953	2.075	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.91635	0.997;0.999	T	0.71912	-0.4449	10	0.16896	T	0.51	-10.1355	15.5141	0.75809	0.0:0.0:0.0:1.0	.	820;831	P39880;P39880-3	CUX1_HUMAN;.	R	831;820;798;764;718;662	ENSP00000353401:W831R;ENSP00000292535:W820R;ENSP00000446630:W798R;ENSP00000447373:W764R;ENSP00000450125:W718R;ENSP00000451558:W662R	ENSP00000292535:W820R	W	+	1	0	CUX1	101631755	1.000000	0.71417	0.912000	0.35992	0.415000	0.31203	7.393000	0.79851	2.071000	0.62044	0.533000	0.62120	TGG	CUX1	-	NULL		0.672	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CUX1	HGNC	protein_coding	OTTHUMT00000347535.1	T	NM_001913		101845035	+1	no_errors	ENST00000360264	ensembl	human	known	70_37	missense	SNP	0.998	C
CXCL9	4283	genome.wustl.edu	37	4	76924773	76924773	+	Missense_Mutation	SNP	G	G	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr4:76924773G>C	ENST00000264888.5	-	4	394	c.356C>G	c.(355-357)tCt>tGt	p.S119C	RP11-630D6.5_ENST00000501239.2_RNA	NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	119					cell chemotaxis (GO:0060326)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|chemotaxis (GO:0006935)|defense response (GO:0006952)|defense response to virus (GO:0051607)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|positive regulation of cAMP metabolic process (GO:0030816)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|regulation of cell proliferation (GO:0042127)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	chemokine activity (GO:0008009)|CXCR3 chemokine receptor binding (GO:0048248)|cytokine activity (GO:0005125)			large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CTTTTGACGAGAACGTTGAGA	0.338																																																	0													177.0	169.0	172.0					4																	76924773		2201	4298	6499	SO:0001583	missense	4283			X72755	CCDS34014.1	4q21	2013-02-25	2002-08-22	2002-08-23		ENSG00000138755		"""Endogenous ligands"""	7098	protein-coding gene	gene with protein product		601704	"""monokine induced by gamma interferon"""	CMK, MIG		8476424, 9730616	Standard	NM_002416		Approved	SCYB9, Humig, crg-10	uc003hjh.1	Q07325		ENST00000264888.5:c.356C>G	4.37:g.76924773G>C	ENSP00000354901:p.Ser119Cys		Q503B4	Missense_Mutation	SNP	pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC	p.S119C	ENST00000264888.5	37	c.356	CCDS34014.1	4	.	.	.	.	.	.	.	.	.	.	G	11.45	1.640998	0.29157	.	.	ENSG00000138755	ENST00000264888	T	0.46451	0.87	5.22	-1.43	0.08884	.	3.292610	0.00810	N	0.001489	T	0.23766	0.0575	N	0.08118	0	0.09310	N	1	P	0.36495	0.556	B	0.27262	0.078	T	0.34925	-0.9809	10	0.48119	T	0.1	2.8283	11.9178	0.52776	0.0799:0.6389:0.2812:0.0	.	119	Q07325	CXCL9_HUMAN	C	119	ENSP00000354901:S119C	ENSP00000354901:S119C	S	-	2	0	CXCL9	77143797	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.211000	0.09332	-0.110000	0.12022	0.563000	0.77884	TCT	CXCL9	-	NULL		0.338	CXCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXCL9	HGNC	protein_coding	OTTHUMT00000362819.1	G			76924773	-1	no_errors	ENST00000264888	ensembl	human	known	70_37	missense	SNP	0.000	C
CYLC1	1538	genome.wustl.edu	37	X	83128502	83128502	+	Silent	SNP	T	T	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chrX:83128502T>C	ENST00000329312.4	+	4	823	c.786T>C	c.(784-786)gaT>gaC	p.D262D		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	262					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TAAATTTTGATGCATGGTTAA	0.308																																																	0													39.0	37.0	37.0					X																	83128502		2193	4293	6486	SO:0001819	synonymous_variant	1538			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.786T>C	X.37:g.83128502T>C			A0AVQ8|Q5JQQ9	Silent	SNP	NULL	p.D262	ENST00000329312.4	37	c.786	CCDS35341.1	X																																																																																			CYLC1	-	NULL		0.308	CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYLC1	HGNC	protein_coding	OTTHUMT00000057371.1	T	NM_021118		83128502	+1	no_errors	ENST00000329312	ensembl	human	known	70_37	silent	SNP	0.000	C
CYP3A7	1551	genome.wustl.edu	37	7	99305594	99305594	+	Silent	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr7:99305594G>A	ENST00000336374.2	-	12	1259	c.1257C>T	c.(1255-1257)ttC>ttT	p.F419F		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	419					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Alfentanil(DB00802)|Alprazolam(DB00404)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amlodipine(DB00381)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atorvastatin(DB01076)|Buprenorphine(DB00921)|Buspirone(DB00490)|Caffeine(DB00201)|Carbamazepine(DB00564)|Chloramphenicol(DB00446)|Chlorphenamine(DB01114)|Cilostazol(DB01166)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clotrimazole(DB00257)|Cocaine(DB00907)|Codeine(DB00318)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapsone(DB00250)|Delavirdine(DB00705)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Diazepam(DB00829)|Diltiazem(DB00343)|Docetaxel(DB01248)|Dolutegravir(DB08930)|Domperidone(DB01184)|Eplerenone(DB00700)|Erythromycin(DB00199)|Estradiol(DB00783)|Ethosuximide(DB00593)|Ethylmorphine(DB01466)|Felodipine(DB01023)|Fentanyl(DB00813)|Finasteride(DB01216)|Fluconazole(DB00196)|Fluticasone Propionate(DB00588)|Fluvoxamine(DB00176)|Gestodene(DB06730)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ifosfamide(DB01181)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lercanidipine(DB00528)|Levomethadyl Acetate(DB01227)|Lidocaine(DB00281)|Lovastatin(DB00227)|Methadone(DB00333)|Midazolam(DB00683)|Mifepristone(DB00834)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nifedipine(DB01115)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norfloxacin(DB01059)|Ondansetron(DB00904)|Oxazepam(DB00842)|Oxycodone(DB00497)|Paclitaxel(DB01229)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Praziquantel(DB01058)|Progesterone(DB00396)|Propranolol(DB00571)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Testosterone(DB00624)|Trazodone(DB00656)|Tretinoin(DB00755)|Triazolam(DB00897)|Verapamil(DB00661)|Vincristine(DB00541)|Voriconazole(DB00582)|Zalcitabine(DB00943)|Zaleplon(DB00962)|Ziprasidone(DB00246)|Zolpidem(DB00425)	TCTTTTTACTGAACCTGGTTC	0.398																																																	0													333.0	299.0	310.0					7																	99305594		2203	4300	6503	SO:0001819	synonymous_variant	1551			AF315325	CCDS5673.1	7q21-q22.1	2007-12-14	2003-01-14		ENSG00000160870	ENSG00000160870		"""Cytochrome P450s"""	2640	protein-coding gene	gene with protein product		605340	"""cytochrome P450, subfamily IIIA, polypeptide 7"""			2722762	Standard	NM_000765		Approved	CP37, P450-HFLA		P24462	OTTHUMG00000156726	ENST00000336374.2:c.1257C>T	7.37:g.99305594G>A			A4D288|Q9H241	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B	p.F419	ENST00000336374.2	37	c.1257	CCDS5673.1	7																																																																																			CYP3A7	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV		0.398	CYP3A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP3A7	HGNC	protein_coding	OTTHUMT00000345484.1	G			99305594	-1	no_errors	ENST00000336374	ensembl	human	known	70_37	silent	SNP	1.000	A
DCST1	149095	genome.wustl.edu	37	1	155015288	155015288	+	Missense_Mutation	SNP	A	A	G			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:155015288A>G	ENST00000295542.1	+	9	1066	c.970A>G	c.(970-972)Att>Gtt	p.I324V	RP11-307C12.11_ENST00000452962.1_RNA|DCST1_ENST00000392480.1_Missense_Mutation_p.I324V|DCST1_ENST00000368419.2_Missense_Mutation_p.I324V|DCST1_ENST00000423025.2_Missense_Mutation_p.I299V	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	324						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CAACCAGTCTATTCGTGGCCT	0.557																																																	0													106.0	92.0	97.0					1																	155015288		2203	4300	6503	SO:0001583	missense	149095			AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.970A>G	1.37:g.155015288A>G	ENSP00000295542:p.Ile324Val		B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	pfam_DC_STAMP-like,pfscan_Znf_RING	p.I324V	ENST00000295542.1	37	c.970	CCDS1083.1	1	.	.	.	.	.	.	.	.	.	.	A	10.12	1.264336	0.23136	.	.	ENSG00000163357	ENST00000295542;ENST00000392480;ENST00000423025;ENST00000368419	T;T;T;T	0.22336	1.99;1.96;2.0;1.96	4.77	-3.9	0.04181	.	0.503993	0.18444	N	0.141043	T	0.04861	0.0131	L	0.56769	1.78	0.09310	N	1	B;B;B	0.09022	0.002;0.001;0.002	B;B;B	0.09377	0.004;0.002;0.004	T	0.41734	-0.9492	10	0.20519	T	0.43	-0.7079	5.6701	0.17717	0.3612:0.2736:0.3653:0.0	.	299;349;324	E9PHV3;E9PJX3;Q5T197	.;.;DCST1_HUMAN	V	324;324;299;324	ENSP00000295542:I324V;ENSP00000376271:I324V;ENSP00000387369:I299V;ENSP00000357404:I324V	ENSP00000295542:I324V	I	+	1	0	DCST1	153281912	0.001000	0.12720	0.014000	0.15608	0.351000	0.29236	-0.500000	0.06405	-0.929000	0.03757	-0.379000	0.06801	ATT	DCST1	-	NULL		0.557	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCST1	HGNC	protein_coding	OTTHUMT00000099006.1	A	NM_152494		155015288	+1	no_errors	ENST00000295542	ensembl	human	known	70_37	missense	SNP	0.016	G
DEFB132	400830	genome.wustl.edu	37	20	238470	238470	+	Silent	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr20:238470G>A	ENST00000382376.3	+	1	94	c.51G>A	c.(49-51)gtG>gtA	p.V17V		NM_207469.2	NP_997352.1	Q7Z7B7	DB132_HUMAN	defensin, beta 132	17					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				breast(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	4						TGACCCAGGTGATCCCAGGTA	0.532																																																	0													83.0	72.0	76.0					20																	238470		2203	4300	6503	SO:0001819	synonymous_variant	400830			AF525932	CCDS12993.1	20p13	2009-12-04	2008-10-23		ENSG00000186458	ENSG00000186458		"""Defensins, beta"""	33806	protein-coding gene	gene with protein product						18416833	Standard	NM_207469		Approved	RP5-1103G7.6, DEFB32	uc002wdb.3	Q7Z7B7	OTTHUMG00000043061	ENST00000382376.3:c.51G>A	20.37:g.238470G>A			B2RP72|Q4QY40	Silent	SNP	NULL	p.V17	ENST00000382376.3	37	c.51	CCDS12993.1	20																																																																																			DEFB132	-	NULL		0.532	DEFB132-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB132	HGNC	protein_coding	OTTHUMT00000101365.1	G	NM_207469		238470	+1	no_errors	ENST00000382376	ensembl	human	known	70_37	silent	SNP	0.094	A
DENND2A	27147	genome.wustl.edu	37	7	140266969	140266969	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr7:140266969C>T	ENST00000275884.6	-	8	2113	c.1696G>A	c.(1696-1698)Gag>Aag	p.E566K	DENND2A_ENST00000492720.1_Missense_Mutation_p.E566K|DENND2A_ENST00000537639.1_Missense_Mutation_p.E566K|DENND2A_ENST00000496613.1_Missense_Mutation_p.E566K			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	566					positive regulation of Rab GTPase activity (GO:0032851)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					ACAAAGTACTCGAAGAGCTGC	0.597																																																	0													37.0	41.0	40.0					7																	140266969		1915	4139	6054	SO:0001583	missense	27147			AB033103	CCDS43659.1	7q34	2012-10-03	2005-08-17	2005-08-17	ENSG00000146966	ENSG00000146966		"""DENN/MADD domain containing"""	22212	protein-coding gene	gene with protein product			"""KIAA1277"""	KIAA1277			Standard	NM_015689		Approved	FAM31D	uc010lnj.3	Q9ULE3	OTTHUMG00000157411	ENST00000275884.6:c.1696G>A	7.37:g.140266969C>T	ENSP00000275884:p.Glu566Lys		C9JUI3|Q1RMD5|Q86XY0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.E566K	ENST00000275884.6	37	c.1696	CCDS43659.1	7	.	.	.	.	.	.	.	.	.	.	C	36	5.738957	0.96873	.	.	ENSG00000146966	ENST00000275884;ENST00000537639;ENST00000496613;ENST00000492720	T;T;T;T	0.17054	3.05;3.05;3.05;2.3	5.86	5.86	0.93980	uDENN (2);	0.000000	0.85682	D	0.000000	T	0.44117	0.1278	M	0.66297	2.02	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.969	T	0.18745	-1.0327	10	0.72032	D	0.01	-31.7271	20.1772	0.98182	0.0:1.0:0.0:0.0	.	566;566	Q9ULE3-2;Q9ULE3	.;DEN2A_HUMAN	K	566	ENSP00000275884:E566K;ENSP00000442245:E566K;ENSP00000419654:E566K;ENSP00000419464:E566K	ENSP00000275884:E566K	E	-	1	0	DENND2A	139913438	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.432000	0.80349	2.778000	0.95560	0.655000	0.94253	GAG	DENND2A	-	pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom		0.597	DENND2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND2A	HGNC	protein_coding	OTTHUMT00000348742.1	C	NM_015689		140266969	-1	no_errors	ENST00000275884	ensembl	human	known	70_37	missense	SNP	1.000	T
DENND4B	9909	genome.wustl.edu	37	1	153906649	153906649	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:153906649C>T	ENST00000361217.4	-	19	3321	c.2903G>A	c.(2902-2904)cGa>cAa	p.R968Q	DENND4B_ENST00000474386.1_5'Flank	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	968					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGTGCCCCTCGGGCACTGCC	0.642																																																	0													11.0	12.0	12.0					1																	153906649		1861	4085	5946	SO:0001583	missense	9909			AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.2903G>A	1.37:g.153906649C>T	ENSP00000354597:p.Arg968Gln		Q5T4K0	Missense_Mutation	SNP	pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom	p.R968Q	ENST00000361217.4	37	c.2903	CCDS44228.1	1	.	.	.	.	.	.	.	.	.	.	C	11.61	1.689526	0.29962	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.06608	3.28;3.28	4.76	-0.624	0.11552	.	0.854175	0.10179	N	0.706099	T	0.00998	0.0033	N	0.24115	0.695	0.25101	N	0.990789	B	0.06786	0.001	B	0.04013	0.001	T	0.47661	-0.9100	10	0.07175	T	0.84	0.1754	8.5555	0.33478	0.0:0.5395:0.0:0.4605	.	968	O75064	DEN4B_HUMAN	Q	968;979	ENSP00000354597:R968Q;ENSP00000357635:R979Q	ENSP00000354597:R968Q	R	-	2	0	DENND4B	152173273	0.043000	0.20138	0.801000	0.32222	0.997000	0.91878	0.074000	0.14662	-0.275000	0.09219	0.462000	0.41574	CGA	DENND4B	-	NULL		0.642	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND4B	HGNC	protein_coding	OTTHUMT00000090278.2	C	XM_375806		153906649	-1	no_errors	ENST00000361217	ensembl	human	known	70_37	missense	SNP	0.942	T
DIDO1	11083	genome.wustl.edu	37	20	61525382	61525382	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr20:61525382C>T	ENST00000266070.4	-	12	3062	c.2737G>A	c.(2737-2739)Gag>Aag	p.E913K	DIDO1_ENST00000395335.2_Missense_Mutation_p.E913K|DIDO1_ENST00000395340.1_Missense_Mutation_p.E913K|DIDO1_ENST00000395343.1_Missense_Mutation_p.E913K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	913					apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					AGGCCTGGCTCAGAGGCAACT	0.552																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0													97.0	94.0	95.0					20																	61525382		2203	4300	6503	SO:0001583	missense	11083			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.2737G>A	20.37:g.61525382C>T	ENSP00000266070:p.Glu913Lys		A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Missense_Mutation	SNP	pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger	p.E913K	ENST00000266070.4	37	c.2737	CCDS33506.1	20	.	.	.	.	.	.	.	.	.	.	C	16.59	3.164746	0.57476	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	T;T;T;T	0.12255	3.01;3.01;2.7;2.7	6.17	6.17	0.99709	.	0.157526	0.28853	N	0.013937	T	0.21590	0.0520	M	0.69823	2.125	0.58432	D	0.999999	P;P	0.46142	0.873;0.799	P;B	0.44990	0.466;0.276	T	0.01725	-1.1287	10	0.17369	T	0.5	-22.2079	15.581	0.76439	0.1377:0.8623:0.0:0.0	.	913;913	Q9BTC0-1;Q9BTC0	.;DIDO1_HUMAN	K	913	ENSP00000266070:E913K;ENSP00000378752:E913K;ENSP00000378749:E913K;ENSP00000378744:E913K	ENSP00000266070:E913K	E	-	1	0	DIDO1	60995827	0.051000	0.20477	0.012000	0.15200	0.003000	0.03518	3.253000	0.51469	2.941000	0.99782	0.655000	0.94253	GAG	DIDO1	-	NULL		0.552	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	C	NM_080796		61525382	-1	no_errors	ENST00000266070	ensembl	human	known	70_37	missense	SNP	0.026	T
DLG1	1739	genome.wustl.edu	37	3	196910630	196910630	+	Intron	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:196910630C>T	ENST00000419354.1	-	5	770				DLG1_ENST00000422288.1_Intron|DLG1_ENST00000443183.1_Missense_Mutation_p.R17Q|DLG1_ENST00000314062.3_Intron|DLG1_ENST00000448528.2_Intron|DLG1_ENST00000346964.2_Intron|DLG1_ENST00000392382.2_Intron|DLG1_ENST00000450955.1_Intron|DLG1_ENST00000357674.4_Intron|DLG1_ENST00000452595.1_Missense_Mutation_p.R17Q			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)						actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		ATTGCCTCCTCGACTGCCGCG	0.517																																																	0																																										SO:0001627	intron_variant	1739			U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.483+10665G>A	3.37:g.196910630C>T			A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.R17Q	ENST00000419354.1	37	c.50	CCDS43194.1	3	.	.	.	.	.	.	.	.	.	.	C	18.09	3.547251	0.65311	.	.	ENSG00000075711	ENST00000452595;ENST00000443183	T;T	0.21191	2.02;2.06	5.74	5.74	0.90152	.	.	.	.	.	T	0.24084	0.0583	N	0.08118	0	0.80722	D	1	D;D;D	0.64830	0.994;0.994;0.994	P;P;P	0.61201	0.885;0.885;0.885	T	0.16394	-1.0404	9	0.15952	T	0.53	.	18.9135	0.92494	0.0:1.0:0.0:0.0	.	17;17;17	E9PG21;E7EWL7;B4DGU1	.;.;.	Q	17	ENSP00000398939:R17Q;ENSP00000396658:R17Q	ENSP00000396658:R17Q	R	-	2	0	DLG1	198395027	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.822000	0.69265	2.692000	0.91855	0.650000	0.86243	CGA	DLG1	-	pirsf_M-assoc_guanylate_kinase		0.517	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DLG1	HGNC	protein_coding	OTTHUMT00000258170.2	C	NM_004087		196910630	-1	no_errors	ENST00000443183	ensembl	human	putative	70_37	missense	SNP	1.000	T
DST	667	genome.wustl.edu	37	6	56417204	56417204	+	Silent	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:56417204G>A	ENST00000361203.3	-	57	15760	c.15753C>T	c.(15751-15753)atC>atT	p.I5251I	DST_ENST00000370788.2_Silent_p.I3165I|DST_ENST00000370754.5_Silent_p.I5431I|DST_ENST00000244364.6_Silent_p.I2839I|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Silent_p.I5253I|DST_ENST00000446842.2_Silent_p.I4927I|DST_ENST00000421834.2_Silent_p.I3165I			Q03001	DYST_HUMAN	dystonin	5251					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)			AGTCCCTTTTGATTCCAACAA	0.458																																																	0													83.0	79.0	80.0					6																	56417204		1908	4109	6017	SO:0001819	synonymous_variant	667			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	ENST00000361203.3:c.15753C>T	6.37:g.56417204G>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_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.I5431	ENST00000361203.3	37	c.16293		6																																																																																			DST	-	superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.458	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	G	NM_001723		56417204	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	silent	SNP	1.000	A
DST	667	genome.wustl.edu	37	6	56417638	56417638	+	Missense_Mutation	SNP	G	G	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:56417638G>C	ENST00000361203.3	-	57	15326	c.15319C>G	c.(15319-15321)Cag>Gag	p.Q5107E	DST_ENST00000370788.2_Missense_Mutation_p.Q3021E|DST_ENST00000370754.5_Missense_Mutation_p.Q5287E|DST_ENST00000244364.6_Missense_Mutation_p.Q2695E|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.Q5109E|DST_ENST00000446842.2_Missense_Mutation_p.Q4783E|DST_ENST00000421834.2_Missense_Mutation_p.Q3021E			Q03001	DYST_HUMAN	dystonin	5107					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)			GATTTCTGCTGAGTTTGCAAC	0.468																																																	0													122.0	114.0	117.0					6																	56417638		1915	4157	6072	SO:0001583	missense	667			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	ENST00000361203.3:c.15319C>G	6.37:g.56417638G>C	ENSP00000354508:p.Gln5107Glu		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.Q5287E	ENST00000361203.3	37	c.15859		6	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822304	0.50739	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.65364	1.1;-0.1;-0.11;0.04;0.85;0.01;-0.15	6.06	6.06	0.98353	.	0.000000	0.49916	D	0.000129	T	0.75064	0.3799	M	0.79475	2.455	0.24605	N	0.99376	D;D;D;D;D	0.71674	0.989;0.998;0.998;0.983;0.992	D;D;D;P;P	0.85130	0.966;0.928;0.997;0.621;0.888	T	0.67138	-0.5746	9	0.17369	T	0.5	.	20.6208	0.99490	0.0:0.0:1.0:0.0	.	3021;5109;5287;5107;2695	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	E	2695;5287;5109;3021;4783;3021;5107	ENSP00000244364:Q2695E;ENSP00000359790:Q5287E;ENSP00000359805:Q5109E;ENSP00000400883:Q3021E;ENSP00000393645:Q4783E;ENSP00000359824:Q3021E;ENSP00000354508:Q5107E	ENSP00000244364:Q2695E	Q	-	1	0	DST	56525597	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	8.030000	0.88816	2.882000	0.98803	0.655000	0.94253	CAG	DST	-	superfamily_ABC_transptrTM_dom_typ1		0.468	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	G	NM_001723		56417638	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	missense	SNP	1.000	C
DST	667	genome.wustl.edu	37	6	56418448	56418448	+	Missense_Mutation	SNP	G	G	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:56418448G>T	ENST00000361203.3	-	57	14516	c.14509C>A	c.(14509-14511)Cat>Aat	p.H4837N	DST_ENST00000370788.2_Missense_Mutation_p.H2751N|DST_ENST00000370754.5_Missense_Mutation_p.H5017N|DST_ENST00000244364.6_Missense_Mutation_p.H2425N|DST_ENST00000312431.6_3'UTR|DST_ENST00000370769.4_Missense_Mutation_p.H4839N|DST_ENST00000446842.2_Missense_Mutation_p.H4513N|DST_ENST00000421834.2_Missense_Mutation_p.H2751N			Q03001	DYST_HUMAN	dystonin	4837					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)			TGCTGGACATGATTCTCTAGA	0.318																																																	0													40.0	38.0	38.0					6																	56418448		1809	4083	5892	SO:0001583	missense	667			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	ENST00000361203.3:c.14509C>A	6.37:g.56418448G>T	ENSP00000354508:p.His4837Asn		B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.H5017N	ENST00000361203.3	37	c.15049		6	.	.	.	.	.	.	.	.	.	.	G	12.20	1.866516	0.32977	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000370788;ENST00000361203	T;T;T;T;T;T;T	0.34667	1.35;1.35;1.35;1.35;1.35;1.35;1.35	5.61	5.61	0.85477	.	0.000000	0.53938	D	0.000043	T	0.51346	0.1669	L	0.60455	1.87	0.25390	N	0.98854	D;D;D;B;B	0.63046	0.988;0.983;0.992;0.167;0.209	P;P;D;B;B	0.67725	0.714;0.837;0.953;0.068;0.429	T	0.49615	-0.8921	9	0.66056	D	0.02	.	20.0016	0.97412	0.0:0.0:1.0:0.0	.	2751;4839;5017;4837;2425	Q5TBT1;E7ERU2;E9PEB9;Q03001;Q03001-8	.;.;.;DYST_HUMAN;.	N	2425;5017;4839;2751;4513;2751;4837	ENSP00000244364:H2425N;ENSP00000359790:H5017N;ENSP00000359805:H4839N;ENSP00000400883:H2751N;ENSP00000393645:H4513N;ENSP00000359824:H2751N;ENSP00000354508:H4837N	ENSP00000244364:H2425N	H	-	1	0	DST	56526407	1.000000	0.71417	0.996000	0.52242	0.257000	0.26127	6.426000	0.73374	2.802000	0.96397	0.655000	0.94253	CAT	DST	-	superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.318	DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	DST	HGNC	protein_coding	OTTHUMT00000041021.3	G	NM_001723		56418448	-1	no_errors	ENST00000370754	ensembl	human	known	70_37	missense	SNP	1.000	T
ECT2	1894	genome.wustl.edu	37	3	172501696	172501696	+	Silent	SNP	C	C	G			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:172501696C>G	ENST00000392692.3	+	16	1901	c.1725C>G	c.(1723-1725)ctC>ctG	p.L575L	ECT2_ENST00000417960.1_Silent_p.L543L|ECT2_ENST00000441497.2_Silent_p.L544L|ECT2_ENST00000232458.5_Silent_p.L544L|ECT2_ENST00000427830.1_Silent_p.L544L|ECT2_ENST00000540509.1_Silent_p.L575L	NM_001258315.1	NP_001245244.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming 2	575	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				activation of protein kinase activity (GO:0032147)|activation of Rac GTPase activity (GO:0032863)|activation of Rho GTPase activity (GO:0032862)|apoptotic signaling pathway (GO:0097190)|cell morphogenesis (GO:0000902)|cellular response to calcium ion (GO:0071277)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|cytokinesis (GO:0000910)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of cytokinesis (GO:0032467)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of Rho GTPase activity (GO:0032321)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of protein kinase activity (GO:0045859)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|centralspindlin complex (GO:0097149)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|tight junction (GO:0005923)	GTPase activator activity (GO:0005096)|protein homodimerization activity (GO:0042803)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|signal transducer activity (GO:0004871)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			ATGCTTTTCTCAAGGTAATGT	0.269																																																	0													43.0	48.0	46.0					3																	172501696		2202	4284	6486	SO:0001819	synonymous_variant	1894			AA206473	CCDS3220.1, CCDS58860.1	3q26.1-q26.2	2014-03-11	2014-03-11		ENSG00000114346	ENSG00000114346		"""Rho guanine nucleotide exchange factors"""	3155	protein-coding gene	gene with protein product		600586	"""epithelial cell transforming sequence 2 oncogene"""			8464478, 10579713	Standard	NM_018098		Approved	ARHGEF31	uc003fil.2	Q9H8V3	OTTHUMG00000156762	ENST00000392692.3:c.1725C>G	3.37:g.172501696C>G			Q0MT80|Q2M269|Q6U836|Q9NSV8|Q9NVW9	Silent	SNP	pfam_DH-domain,pfam_BRCT_dom,superfamily_DH-domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DH-domain,pfscan_BRCT_dom,pfscan_DH-domain	p.L544	ENST00000392692.3	37	c.1632	CCDS58860.1	3																																																																																			ECT2	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.269	ECT2-003	NOVEL	basic|CCDS	protein_coding	ECT2	HGNC	protein_coding	OTTHUMT00000345994.2	C	NM_018098		172501696	+1	no_errors	ENST00000427830	ensembl	human	known	70_37	silent	SNP	0.398	G
EEF1A2	1917	genome.wustl.edu	37	20	62121960	62121960	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr20:62121960C>T	ENST00000298049.7	-	5	971	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	EEF1A2_ENST00000217182.3_Missense_Mutation_p.E301K			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	301					positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			GGCAGAGCTTCGCTCAGAGCC	0.622																																																	0													107.0	96.0	100.0					20																	62121960		2200	4294	6494	SO:0001583	missense	1917			AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"""statin-like"", ""statin"""	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.901G>A	20.37:g.62121960C>T	ENSP00000298049:p.Glu301Lys		B5BUF3|E1P5J1|P54266|Q0VGC7	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc	p.E301K	ENST00000298049.7	37	c.901	CCDS13522.1	20	.	.	.	.	.	.	.	.	.	.	C	18.44	3.625125	0.66901	.	.	ENSG00000101210	ENST00000298049;ENST00000217182	T;T	0.70749	-0.51;-0.51	3.82	3.82	0.43975	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.000000	0.85682	D	0.000000	D	0.83862	0.5346	M	0.82132	2.575	0.80722	D	1	D;B	0.61080	0.989;0.054	D;B	0.71656	0.974;0.117	D	0.87163	0.2216	10	0.72032	D	0.01	-12.6595	16.0768	0.80974	0.0:1.0:0.0:0.0	.	277;301	Q59GP5;Q05639	.;EF1A2_HUMAN	K	301	ENSP00000298049:E301K;ENSP00000217182:E301K	ENSP00000217182:E301K	E	-	1	0	EEF1A2	61592404	1.000000	0.71417	0.975000	0.42487	0.586000	0.36452	7.626000	0.83164	1.847000	0.53656	0.556000	0.70494	GAA	EEF1A2	-	pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,tigrfam_Transl_elong_EF1A_euk/arc		0.622	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1A2	HGNC	protein_coding	OTTHUMT00000080495.1	C	NM_001958		62121960	-1	no_errors	ENST00000217182	ensembl	human	known	70_37	missense	SNP	1.000	T
EIF3B	8662	genome.wustl.edu	37	7	2419073	2419073	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr7:2419073G>T	ENST00000360876.4	+	18	2442	c.2386G>T	c.(2386-2388)Gag>Tag	p.E796*	EIF3B_ENST00000397011.2_Nonsense_Mutation_p.E796*	NM_001037283.1	NP_001032360.1			eukaryotic translation initiation factor 3, subunit B											breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		CGACTGGGAAGAGGAGACCAT	0.607																																																	0													66.0	55.0	59.0					7																	2419073		2203	4300	6503	SO:0001587	stop_gained	8662			U62583	CCDS5332.1	7p22	2013-02-12	2007-07-27	2007-07-27	ENSG00000106263	ENSG00000106263		"""RNA binding motif (RRM) containing"""	3280	protein-coding gene	gene with protein product		603917	"""eukaryotic translation initiation factor 3, subunit 9 eta, 116kDa"""	EIF3S9		8995410	Standard	NM_001037283		Approved	PRT1, eIF3b	uc003sly.3	P55884	OTTHUMG00000022839	ENST00000360876.4:c.2386G>T	7.37:g.2419073G>T	ENSP00000354125:p.Glu796*			Nonsense_Mutation	SNP	pfam_TIF2A_beta_prop-like,pfam_RRM_dom,smart_RRM_dom,pirsf_eIF3b,pfscan_RRM_dom	p.E796*	ENST00000360876.4	37	c.2386	CCDS5332.1	7	.	.	.	.	.	.	.	.	.	.	G	37	6.516929	0.97629	.	.	ENSG00000106263	ENST00000314800;ENST00000360876;ENST00000397011;ENST00000489558	.	.	.	5.82	5.82	0.92795	.	0.045890	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-52.8022	20.1013	0.97878	0.0:0.0:1.0:0.0	.	.	.	.	X	796;796;796;720	.	ENSP00000316638:E796X	E	+	1	0	EIF3B	2385599	1.000000	0.71417	1.000000	0.80357	0.629000	0.37895	9.287000	0.95975	2.748000	0.94277	0.655000	0.94253	GAG	EIF3B	-	pirsf_eIF3b		0.607	EIF3B-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	EIF3B	HGNC	protein_coding	OTTHUMT00000207006.1	G			2419073	+1	no_errors	ENST00000360876	ensembl	human	known	70_37	nonsense	SNP	1.000	T
EIF4G3	8672	genome.wustl.edu	37	1	21268001	21268001	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:21268001C>T	ENST00000264211.8	-	8	1672	c.1478G>A	c.(1477-1479)aGa>aAa	p.R493K	EIF4G3_ENST00000374927.4_Missense_Mutation_p.R493K|EIF4G3_ENST00000374933.3_5'Flank|EIF4G3_ENST00000356916.3_Missense_Mutation_p.R504K|EIF4G3_ENST00000602326.1_Missense_Mutation_p.R499K|EIF4G3_ENST00000536266.1_Missense_Mutation_p.R97K|EIF4G3_ENST00000544689.1_5'UTR|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000374937.3_Missense_Mutation_p.R499K|EIF4G3_ENST00000400422.1_Missense_Mutation_p.R493K	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	493					cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AGGGCTCCTTCTTGAATTTAA	0.393																																																	0													169.0	175.0	173.0					1																	21268001		2203	4300	6503	SO:0001583	missense	8672			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.1478G>A	1.37:g.21268001C>T	ENSP00000264211:p.Arg493Lys		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.R499K	ENST00000264211.8	37	c.1496	CCDS214.1	1	.	.	.	.	.	.	.	.	.	.	C	0.436	-0.901074	0.02472	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374937;ENST00000536266;ENST00000356916;ENST00000374927;ENST00000537059	T;T;T;T;T	0.19938	2.11;2.11;2.11;2.11;2.11	5.5	3.65	0.41850	.	0.481200	0.22494	N	0.059338	T	0.10423	0.0255	N	0.14661	0.345	0.21604	N	0.999622	B;B;B;B;B;B	0.32467	0.152;0.007;0.372;0.0;0.039;0.001	B;B;B;B;B;B	0.33392	0.085;0.006;0.163;0.001;0.014;0.002	T	0.28522	-1.0041	10	0.06494	T	0.89	-5.8209	10.1253	0.42646	0.0:0.8469:0.0:0.1531	.	493;688;619;97;499;493	B4DXR2;Q59GJ0;B1AN89;F5H564;B9EGQ7;O43432	.;.;.;.;.;IF4G3_HUMAN	K	493;689;493;499;97;619;493;504	ENSP00000264211:R493K;ENSP00000383274:R493K;ENSP00000364073:R499K;ENSP00000444693:R97K;ENSP00000364062:R493K	ENSP00000264211:R493K	R	-	2	0	EIF4G3	21140588	1.000000	0.71417	0.999000	0.59377	0.030000	0.12068	1.450000	0.35134	0.889000	0.36185	-0.802000	0.03209	AGA	EIF4G3	-	NULL		0.393	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4G3	HGNC	protein_coding	OTTHUMT00000007467.3	C	NM_003760		21268001	-1	no_errors	ENST00000374937	ensembl	human	known	70_37	missense	SNP	1.000	T
ELK4	2005	genome.wustl.edu	37	1	205588167	205588167	+	Missense_Mutation	SNP	G	G	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:205588167G>C	ENST00000357992.4	-	4	1454	c.1115C>G	c.(1114-1116)tCc>tGc	p.S372C	ELK4_ENST00000468523.1_5'Flank	NM_001973.3	NP_001964.2	P28324	ELK4_HUMAN	ELK4, ETS-domain protein (SRF accessory protein 1)	372					cell differentiation (GO:0030154)|histone H3 deacetylation (GO:0070932)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)		SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GTGGATACTGGAGAGCAAGGG	0.433			T	SLC45A3	prostate																																			Dom	yes		1	1q32	2005	"""ELK4, ETS-domain protein (SRF accessory protein 1)"""		E	0													99.0	93.0	95.0					1																	205588167		2203	4300	6503	SO:0001583	missense	2005			M85165	CCDS1456.1, CCDS1457.1	1q32	2008-02-05			ENSG00000158711	ENSG00000158711			3326	protein-coding gene	gene with protein product		600246				7851904, 8575773	Standard	NM_001973		Approved	SAP1		P28324	OTTHUMG00000037221	ENST00000357992.4:c.1115C>G	1.37:g.205588167G>C	ENSP00000350681:p.Ser372Cys		P28323|Q6GSJ2	Missense_Mutation	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.S372C	ENST00000357992.4	37	c.1115	CCDS1456.1	1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029107	0.93518	.	.	ENSG00000158711	ENST00000539916;ENST00000357992	T	0.51071	0.72	5.57	5.57	0.84162	.	0.096495	0.85682	D	0.000000	T	0.68329	0.2989	M	0.65975	2.015	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.70223	-0.4931	10	0.72032	D	0.01	.	18.1177	0.89561	0.0:0.0:1.0:0.0	.	372	P28324	ELK4_HUMAN	C	462;372	ENSP00000350681:S372C	ENSP00000350681:S372C	S	-	2	0	ELK4	203854790	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.869000	0.99810	2.633000	0.89246	0.563000	0.77884	TCC	ELK4	-	NULL		0.433	ELK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELK4	HGNC	protein_coding	OTTHUMT00000090615.1	G	NM_021795		205588167	-1	no_errors	ENST00000357992	ensembl	human	known	70_37	missense	SNP	1.000	C
EMX2	2018	genome.wustl.edu	37	10	119308122	119308122	+	3'UTR	SNP	C	C	G			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr10:119308122C>G	ENST00000553456.3	+	0	1962				EMX2_ENST00000442245.4_3'UTR|EMX2_ENST00000546446.1_3'UTR	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2						anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		AGCTGTCAATCAAACACCAAA	0.463																																																	0																																										SO:0001624	3_prime_UTR_variant	2018			AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"""Homeoboxes / ANTP class : NKL subclass"""	3341	protein-coding gene	gene with protein product		600035	"""empty spiracles homolog 2 (Drosophila)"""			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.*379C>G	10.37:g.119308122C>G			G3V305|Q96NN8|Q9BQF4	RNA	SNP	-	NULL	ENST00000553456.3	37	NULL	CCDS7601.1	10																																																																																			EMX2	-	-		0.463	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMX2	HGNC	protein_coding	OTTHUMT00000050569.4	C	NM_004098		119308122	+1	no_errors	ENST00000442245	ensembl	human	known	70_37	rna	SNP	1.000	G
ENPP1	5167	genome.wustl.edu	37	6	132189247	132189247	+	Silent	SNP	C	C	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:132189247C>A	ENST00000360971.2	+	12	1274	c.1254C>A	c.(1252-1254)ctC>ctA	p.L418L		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	418	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	GCCTGAACCTCATCCTTATTT	0.403																																					Colon(104;336 1535 5856 11019 33782)												0													218.0	200.0	206.0					6																	132189247		2203	4300	6503	SO:0001819	synonymous_variant	5167			M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.1254C>A	6.37:g.132189247C>A			Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Silent	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.L418	ENST00000360971.2	37	c.1254	CCDS5150.2	6																																																																																			ENPP1	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.403	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP1	HGNC	protein_coding	OTTHUMT00000042238.2	C			132189247	+1	no_errors	ENST00000360971	ensembl	human	known	70_37	silent	SNP	1.000	A
RTP1	132112	genome.wustl.edu	37	3	186921620	186921620	+	IGR	SNP	C	C	G			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:186921620C>G	ENST00000312295.4	+	0	2217				RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1						protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		tccctccactctgggttgtgG	0.438																																																	0																																										SO:0001628	intergenic_variant	0			BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"""Receptor transporter proteins"""	28580	protein-coding gene	gene with protein product	"""receptor transporting protein 1"", ""zinc finger, 3CxxC-type 1"""	609137	"""receptor transporter protein 1"""			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886		3.37:g.186921620C>G				RNA	SNP	-	NULL	ENST00000312295.4	37	NULL	CCDS3287.2	3																																																																																			RP11-208N14.4	-	-		0.438	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000198491	Clone_based_vega_gene	protein_coding	OTTHUMT00000313731.2	C	NM_153708		186921620	-1	no_errors	ENST00000356133	ensembl	human	known	70_37	rna	SNP	0.000	G
MT-ND1	4535	genome.wustl.edu	37	M	1197	1197	+	5'Flank	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chrM:1197G>A	ENST00000361390.2	+	0	0				MT-TF_ENST00000387314.1_RNA|MT-TV_ENST00000387342.1_RNA|MT-TL1_ENST00000386347.1_RNA|MT-RNR1_ENST00000389680.2_RNA|MT-RNR2_ENST00000387347.2_RNA			P03886	NU1M_HUMAN	mitochondrially encoded NADH dehydrogenase 1						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(1)|endometrium(13)|kidney(17)|lung(2)|prostate(1)	34					Desflurane(DB01189)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CATATCCCTCTAGAGGAGCCT	0.478																																																	0																																										SO:0001631	upstream_gene_variant	0					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198888	ENSG00000198888	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7455	protein-coding gene	gene with protein product	"""complex I ND1 subunit"", ""NADH-ubiquinone oxidoreductase chain 1"""	516000	"""NADH dehydrogenase 1"""	MTND1			Standard			Approved	ND1, NAD1		P03886			M.37:g.1197G>A	Exception_encountered		C0JKH6|Q37523	RNA	SNP	-	NULL	ENST00000361390.2	37	NULL		MT																																																																																			J01415.23	-	-		0.478	MT-ND1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000211459	Clone_based_ensembl_gene	protein_coding		G	YP_003024026		1197	+1	no_errors	ENST00000389680	ensembl	human	known	70_37	rna	SNP	NULL	A
LPP	4026	genome.wustl.edu	37	3	187897332	187897332	+	Missense_Mutation	SNP	C	C	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:187897332C>A	ENST00000392468.2	+	1	1002	c.361C>A	c.(361-363)Cat>Aat	p.H121N	LPP_ENST00000448637.1_Intron																kidney(1)	1						CTCGTGCTCTCATATTTCCAT	0.517																																																	0													12.0	11.0	12.0					3																	187897332		692	1590	2282	SO:0001583	missense	0																														ENST00000392468.2:c.361C>A	3.37:g.187897332C>A	ENSP00000376261:p.His121Asn			Missense_Mutation	SNP	NULL	p.H121N	ENST00000392468.2	37	c.361		3	.	.	.	.	.	.	.	.	.	.	C	10.73	1.433414	0.25813	.	.	ENSG00000213132	ENST00000392468	.	.	.	4.4	-0.128	0.13506	.	.	.	.	.	T	0.35828	0.0945	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.37798	-0.9690	5	0.87932	D	0	.	3.8077	0.08783	0.0:0.4327:0.1831:0.3842	.	.	.	.	N	121	.	ENSP00000376261:H121N	H	+	1	0	AC022498.1	189380026	0.010000	0.17322	0.003000	0.11579	0.467000	0.32768	0.004000	0.13106	-0.030000	0.13804	0.561000	0.74099	CAT	AC022498.1	-	NULL		0.517	AC022498.1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000213132	Clone_based_ensembl_gene	protein_coding		C			187897332	+1	no_errors	ENST00000392468	ensembl	human	known	70_37	missense	SNP	0.004	A
CXorf40A	91966	genome.wustl.edu	37	X	148630192	148630192	+	IGR	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chrX:148630192C>T	ENST00000441248.1	+	0	2411				CXorf40A_ENST00000422892.2_Intron|CXorf40A_ENST00000434353.2_Intron|CXorf40A_ENST00000514208.1_Intron|RP5-937E21.8_ENST00000431993.1_RNA			Q8TE69	CX04A_HUMAN	chromosome X open reading frame 40A											breast(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TGGCACTCTTCTTGGACCACA	0.572																																																	0																																										SO:0001628	intergenic_variant	0			AF011889	CCDS14687.1, CCDS55522.1	Xq28	2010-03-16	2005-09-13	2005-09-13	ENSG00000197620	ENSG00000197620			28089	protein-coding gene	gene with protein product	"""endothelial-overexpressed lipopolysaccharide-associated factor 1"""		"""chromosome X open reading frame 40"""	CXorf40		8717057, 9147653, 16383041	Standard	XM_005278212		Approved	EOLA1	uc004fdg.3	Q8TE69	OTTHUMG00000022622		X.37:g.148630192C>T			A8K784|B7Z6H6|B7ZL96|D6RA72|E7ENU3|Q2M3E9	RNA	SNP	-	NULL	ENST00000441248.1	37	NULL	CCDS14687.1	X																																																																																			RP5-937E21.8	-	-		0.572	CXorf40A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000225261	Clone_based_vega_gene	protein_coding	OTTHUMT00000058699.3	C	NM_178124		148630192	-1	no_errors	ENST00000431993	ensembl	human	known	70_37	rna	SNP	0.000	T
BX088651.1	0	genome.wustl.edu	37	9	44402342	44402342	+	5'UTR	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr9:44402342C>T	ENST00000540551.1	-	0	85				RP11-475I24.3_ENST00000435586.1_lincRNA																							TCAGTATGGCCGCCCCCGGAG	0.607																																																	0																																										SO:0001623	5_prime_UTR_variant	0																														ENST00000540551.1:c.-87G>A	9.37:g.44402342C>T				RNA	SNP	-	NULL	ENST00000540551.1	37	NULL		9																																																																																			RP11-475I24.3	-	-		0.607	BX088651.1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000237357	Clone_based_vega_gene	protein_coding		C			44402342	+1	no_errors	ENST00000435586	ensembl	human	known	70_37	rna	SNP	0.033	T
RP11-764K9.1	0	genome.wustl.edu	37	9	68400407	68400407	+	lincRNA	SNP	A	A	G	rs199879074		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr9:68400407A>G	ENST00000417843.2	-	0	1412																											GGCCACTCTCACCCTGCTTAT	0.532																																																	0																																												0																															9.37:g.68400407A>G				RNA	SNP	-	NULL	ENST00000417843.2	37	NULL		9																																																																																			RP11-764K9.1	-	-		0.532	RP11-764K9.1-001	KNOWN	basic	lincRNA	ENSG00000225411	Clone_based_vega_gene	lincRNA	OTTHUMT00000129817.2	A			68400407	-1	no_errors	ENST00000417843	ensembl	human	known	70_37	rna	SNP	0.035	G
SRPK2	6733	genome.wustl.edu	37	7	104946702	104946702	+	Intron	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr7:104946702G>A	ENST00000393651.3	-	2	159				RP4-778K6.3_ENST00000476569.1_RNA	NM_182692.1	NP_872634.1			SRSF protein kinase 2											NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						TTGCTAGGAAGAGAAAAGACA	0.343																																																	0																																										SO:0001627	intron_variant	0			U88666	CCDS5735.1, CCDS34724.1	7q22-q31.1	2010-06-23	2010-06-23		ENSG00000135250	ENSG00000135250			11306	protein-coding gene	gene with protein product	"""SR protein kinase 2"", ""serine/arginine-rich splicing factor kinase 2"""	602980	"""SFRS protein kinase 2"""			8208298, 9472028	Standard	NM_182692		Approved	SFRSK2	uc003vcv.4	P78362	OTTHUMG00000157405	ENST00000393651.3:c.71+82392C>T	7.37:g.104946702G>A				RNA	SNP	-	NULL	ENST00000393651.3	37	NULL	CCDS34724.1	7																																																																																			RP4-778K6.3	-	-		0.343	SRPK2-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ENSG00000242154	Clone_based_vega_gene	protein_coding	OTTHUMT00000348723.1	G	NM_182691		104946702	+1	no_errors	ENST00000476569	ensembl	human	known	70_37	rna	SNP	0.000	A
SV2C	22987	genome.wustl.edu	37	5	75466321	75466321	+	Intron	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr5:75466321G>A	ENST00000502798.2	+	3	1022				SV2C_ENST00000322285.7_Intron	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C						neurotransmitter transport (GO:0006836)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	transmembrane transporter activity (GO:0022857)			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GCAGAAGCCTGAAAATGATTT	0.333																																																	0																																										SO:0001627	intron_variant	0			AB028977	CCDS43331.1, CCDS75261.1	5q13	2008-02-05			ENSG00000122012	ENSG00000122012			30670	protein-coding gene	gene with protein product		610291				10470851, 9801366	Standard	XM_005248470		Approved		uc003kei.1	Q496J9	OTTHUMG00000162384	ENST00000502798.2:c.581-24423G>A	5.37:g.75466321G>A			Q496K1|Q9UPU8	RNA	SNP	-	NULL	ENST00000502798.2	37	NULL	CCDS43331.1	5																																																																																			RP11-466P24.2	-	-		0.333	SV2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000254893	Clone_based_vega_gene	protein_coding	OTTHUMT00000368700.4	G			75466321	-1	no_errors	ENST00000527880	ensembl	human	known	70_37	rna	SNP	1.000	A
RP11-597A11.6	0	genome.wustl.edu	37	14	20146058	20146058	+	lincRNA	SNP	C	C	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr14:20146058C>A	ENST00000555580.1	-	0	307				RP11-597A11.1_ENST00000548261.1_RNA																							TCAATCAGTTCTTTGTGACTC	0.502																																																	0																																												0																															14.37:g.20146058C>A				RNA	SNP	-	NULL	ENST00000555580.1	37	NULL		14																																																																																			RP11-597A11.1	-	-		0.502	RP11-597A11.6-001	KNOWN	basic	lincRNA	ENSG00000258027	Clone_based_vega_gene	lincRNA	OTTHUMT00000409767.1	C			20146058	+1	no_errors	ENST00000548261	ensembl	human	known	70_37	rna	SNP	1.000	A
RP11-271K11.5	0	genome.wustl.edu	37	17	29374484	29374484	+	RNA	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr17:29374484C>T	ENST00000583112.1	-	0	254																		p.?(1)									TGTCCAATCTCTGTAGTAGGT	0.527																																																	1	Unknown(1)	central_nervous_system(1)																																										0																															17.37:g.29374484C>T				RNA	SNP	-	NULL	ENST00000583112.1	37	NULL		17																																																																																			RP11-271K11.5	-	-		0.527	RP11-271K11.5-002	KNOWN	basic	processed_transcript	ENSG00000265798	Clone_based_vega_gene	pseudogene	OTTHUMT00000444574.1	C			29374484	-1	no_errors	ENST00000583112	ensembl	human	known	70_37	rna	SNP	0.001	T
EP300	2033	genome.wustl.edu	37	22	41545129	41545129	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr22:41545129G>A	ENST00000263253.7	+	13	3548	c.2329G>A	c.(2329-2331)Gta>Ata	p.V777I		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	777					apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|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 type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGGAATGAATGTAACAAATAT	0.443			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0													144.0	123.0	130.0					22																	41545129		2203	4300	6503	SO:0001583	missense	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.2329G>A	22.37:g.41545129G>A	ENSP00000263253:p.Val777Ile		B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.V777I	ENST00000263253.7	37	c.2329	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	G	19.00	3.742264	0.69418	.	.	ENSG00000100393	ENST00000263253	D	0.83591	-1.74	5.5	4.43	0.53597	.	0.409802	0.17285	N	0.179850	D	0.82296	0.5006	L	0.52011	1.625	0.30038	N	0.81288	D	0.53745	0.962	P	0.51918	0.684	T	0.76626	-0.2890	10	0.26408	T	0.33	-8.192	10.4238	0.44365	0.0724:0.2356:0.692:0.0	.	777	Q09472	EP300_HUMAN	I	777	ENSP00000263253:V777I	ENSP00000263253:V777I	V	+	1	0	EP300	39875075	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.975000	0.40569	2.599000	0.87857	0.655000	0.94253	GTA	EP300	-	NULL		0.443	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	G	NM_001429		41545129	+1	no_errors	ENST00000263253	ensembl	human	known	70_37	missense	SNP	1.000	A
EPX	8288	genome.wustl.edu	37	17	56270823	56270823	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr17:56270823C>T	ENST00000225371.5	+	3	372	c.262C>T	c.(262-264)Cgg>Tgg	p.R88W		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	88					defense response to nematode (GO:0002215)|eosinophil migration (GO:0072677)|hydrogen peroxide catabolic process (GO:0042744)|negative regulation of interleukin-10 production (GO:0032693)|negative regulation of interleukin-5 production (GO:0032714)|positive regulation of interleukin-4 production (GO:0032753)	extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48					Melatonin(DB01065)	GACAGTTGTTCGGGCCGCAGA	0.577																																																	0													86.0	80.0	82.0					17																	56270823		2203	4300	6503	SO:0001583	missense	8288			M26515	CCDS11602.1	17q23.1	2006-09-25				ENSG00000121053	1.11.1.7		3423	protein-coding gene	gene with protein product		131399				2550461, 2541222	Standard	NM_000502		Approved	EPO, EPP, EPX-PEN	uc002ivq.3	P11678		ENST00000225371.5:c.262C>T	17.37:g.56270823C>T	ENSP00000225371:p.Arg88Trp		Q4TVP3	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.R88W	ENST00000225371.5	37	c.262	CCDS11602.1	17	.	.	.	.	.	.	.	.	.	.	C	12.61	1.990433	0.35131	.	.	ENSG00000121053	ENST00000225371	T	0.74106	-0.81	4.47	2.36	0.29203	.	0.763615	0.12080	N	0.501460	T	0.78799	0.4340	M	0.68593	2.085	0.09310	N	1	D	0.69078	0.997	P	0.53006	0.715	T	0.67632	-0.5621	10	0.87932	D	0	-3.9139	10.6091	0.45410	0.5471:0.4529:0.0:0.0	.	88	P11678	PERE_HUMAN	W	88	ENSP00000225371:R88W	ENSP00000225371:R88W	R	+	1	2	EPX	53625822	0.001000	0.12720	0.001000	0.08648	0.320000	0.28249	0.304000	0.19228	0.362000	0.24319	0.549000	0.68633	CGG	EPX	-	NULL		0.577	EPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPX	HGNC	protein_coding	OTTHUMT00000443367.1	C	NM_000502		56270823	+1	no_errors	ENST00000225371	ensembl	human	known	70_37	missense	SNP	0.001	T
F13A1	2162	genome.wustl.edu	37	6	6167843	6167843	+	Missense_Mutation	SNP	C	C	G			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:6167843C>G	ENST00000264870.3	-	13	2021	c.1756G>C	c.(1756-1758)Gag>Cag	p.E586Q	MIR5683_ENST00000584820.1_RNA	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	586					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	AGCACCGCCTCTTTCTTGACT	0.517																																																	0													61.0	49.0	53.0					6																	6167843		2203	4300	6503	SO:0001583	missense	2162			M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1756G>C	6.37:g.6167843C>G	ENSP00000264870:p.Glu586Gln		Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.E586Q	ENST00000264870.3	37	c.1756	CCDS4496.1	6	.	.	.	.	.	.	.	.	.	.	C	8.869	0.948722	0.18356	.	.	ENSG00000124491	ENST00000264870;ENST00000441301	T	0.68025	-0.3	5.54	3.75	0.43078	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.313283	0.30584	N	0.009304	T	0.36524	0.0970	L	0.59436	1.845	0.28319	N	0.922323	P;B	0.42296	0.775;0.082	B;B	0.36030	0.216;0.031	T	0.15867	-1.0422	10	0.31617	T	0.26	.	6.4328	0.21807	0.1489:0.6986:0.0:0.1526	.	523;586	F5H080;P00488	.;F13A_HUMAN	Q	586;523	ENSP00000264870:E586Q	ENSP00000264870:E586Q	E	-	1	0	F13A1	6112842	0.049000	0.20398	0.725000	0.30721	0.177000	0.22998	0.327000	0.19663	0.693000	0.31634	0.467000	0.42956	GAG	F13A1	-	pfam_Transglutaminase_C,superfamily_Transglutaminase_C		0.517	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F13A1	HGNC	protein_coding	OTTHUMT00000039756.3	C	NM_000129		6167843	-1	no_errors	ENST00000264870	ensembl	human	known	70_37	missense	SNP	0.714	G
FAM153C	653316	genome.wustl.edu	37	5	177480916	177480916	+	3'UTR	SNP	T	T	G	rs138887342		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr5:177480916T>G	ENST00000511511.1	+	0	964							Q494X1	F153C_HUMAN	family with sequence similarity 153, member C											kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCTCACACTCTTCTGAAACGA	0.398																																																	0																																										SO:0001624	3_prime_UTR_variant	653316			BC101338		5q35.3	2008-01-09				ENSG00000204677			33936	protein-coding gene	gene with protein product							Standard	NR_038353		Approved	NY-REN-7-like	uc011dge.2	Q494X1		ENST00000511511.1:c.*961T>G	5.37:g.177480916T>G			A4IF33|B2RUV5|B7ZW12	RNA	SNP	-	NULL	ENST00000511511.1	37	NULL		5																																																																																			FAM153C	-	-		0.398	FAM153C-006	KNOWN	basic	processed_transcript	FAM153C	HGNC	protein_coding	OTTHUMT00000373560.1	T	NM_001079527		177480916	+1	no_errors	ENST00000506096	ensembl	human	known	70_37	rna	SNP	0.011	G
FAM193A	8603	genome.wustl.edu	37	4	2701983	2701983	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr4:2701983G>A	ENST00000324666.5	+	17	3562	c.3211G>A	c.(3211-3213)Gag>Aag	p.E1071K	FAM193A_ENST00000382839.3_Missense_Mutation_p.E1071K|FAM193A_ENST00000505311.1_Missense_Mutation_p.E1071K|FAM193A_ENST00000502458.1_Missense_Mutation_p.E1093K|FAM193A_ENST00000545951.1_Missense_Mutation_p.E1071K	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	1071										NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						CAAGGCCACAGAGGGGCAGTC	0.587																																																	0													38.0	41.0	40.0					4																	2701983		2203	4300	6503	SO:0001583	missense	8603			AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.3211G>A	4.37:g.2701983G>A	ENSP00000324587:p.Glu1071Lys		B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	NULL	p.E1071K	ENST00000324666.5	37	c.3211	CCDS58875.1	4	.	.	.	.	.	.	.	.	.	.	G	15.82	2.946238	0.53079	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;1.46	5.17	5.17	0.71159	.	0.126462	0.53938	D	0.000048	T	0.42607	0.1210	L	0.60455	1.87	0.42311	D	0.992212	B;B;P;B;B	0.39480	0.027;0.027;0.675;0.011;0.011	B;B;B;B;B	0.32864	0.021;0.021;0.154;0.021;0.021	T	0.37314	-0.9711	10	0.20519	T	0.43	-23.1045	17.8364	0.88699	0.0:0.0:1.0:0.0	.	1071;1093;1071;1093;1071	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	K	1071;1071;1071;1093;925	ENSP00000372290:E1071K;ENSP00000324587:E1071K;ENSP00000443617:E1071K;ENSP00000427505:E1093K;ENSP00000427260:E925K	ENSP00000324587:E1071K	E	+	1	0	FAM193A	2671781	1.000000	0.71417	0.486000	0.27416	0.742000	0.42306	4.686000	0.61700	2.696000	0.92011	0.655000	0.94253	GAG	FAM193A	-	NULL		0.587	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM193A	HGNC	protein_coding	OTTHUMT00000360903.1	G	NM_003704		2701983	+1	no_errors	ENST00000324666	ensembl	human	known	70_37	missense	SNP	0.980	A
FAM47C	442444	genome.wustl.edu	37	X	37028659	37028659	+	Missense_Mutation	SNP	C	C	G			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chrX:37028659C>G	ENST00000358047.3	+	1	2228	c.2176C>G	c.(2176-2178)Ctc>Gtc	p.L726V		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	726										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CGTATCTCATCTCTGCCCGGA	0.637																																																	0													49.0	47.0	48.0					X																	37028659		2202	4300	6502	SO:0001583	missense	442444			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2176C>G	X.37:g.37028659C>G	ENSP00000367913:p.Leu726Val		Q6ZU46	Missense_Mutation	SNP	NULL	p.L726V	ENST00000358047.3	37	c.2176	CCDS35227.1	X	.	.	.	.	.	.	.	.	.	.	-	1.329	-0.597312	0.03771	.	.	ENSG00000198173	ENST00000358047	T	0.21031	2.03	1.06	-2.11	0.07187	.	.	.	.	.	T	0.19846	0.0477	M	0.79475	2.455	0.09310	N	1	B	0.16603	0.018	B	0.11329	0.006	T	0.33420	-0.9869	9	0.29301	T	0.29	.	3.4232	0.07401	0.0:0.2759:0.4743:0.2498	.	726	Q5HY64	FA47C_HUMAN	V	726	ENSP00000367913:L726V	ENSP00000367913:L726V	L	+	1	0	FAM47C	36938580	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.596000	0.24044	-0.622000	0.05626	-0.632000	0.03989	CTC	FAM47C	-	NULL		0.637	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	HGNC	protein_coding	OTTHUMT00000060508.1	C	NM_001013736		37028659	+1	no_errors	ENST00000358047	ensembl	human	known	70_37	missense	SNP	0.000	G
FAM71B	153745	genome.wustl.edu	37	5	156589943	156589943	+	Missense_Mutation	SNP	G	G	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr5:156589943G>C	ENST00000302938.4	-	2	1428	c.1333C>G	c.(1333-1335)Cat>Gat	p.H445D		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	445						nucleus (GO:0005634)				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGCGGTGATGAGAACTTTTC	0.502																																																	0													168.0	160.0	163.0					5																	156589943		2203	4300	6503	SO:0001583	missense	153745				CCDS4335.1	5q33.3	2005-08-09			ENSG00000170613	ENSG00000170613			28397	protein-coding gene	gene with protein product						12477932	Standard	NM_130899		Approved	MGC26988	uc003lwn.3	Q8TC56	OTTHUMG00000130246	ENST00000302938.4:c.1333C>G	5.37:g.156589943G>C	ENSP00000305596:p.His445Asp		Q1EDD9|Q8TC64|Q96LY8	Missense_Mutation	SNP	pfam_DUF3699	p.H445D	ENST00000302938.4	37	c.1333	CCDS4335.1	5	.	.	.	.	.	.	.	.	.	.	G	14.81	2.646193	0.47258	.	.	ENSG00000170613	ENST00000302938	T	0.18810	2.19	4.64	3.68	0.42216	.	0.730266	0.11847	N	0.523663	T	0.27134	0.0665	L	0.58101	1.795	0.19775	N	0.999952	P	0.49961	0.93	P	0.47299	0.543	T	0.08953	-1.0697	10	0.54805	T	0.06	-0.0986	9.3031	0.37858	0.0:0.0:0.786:0.214	.	445	Q8TC56	FA71B_HUMAN	D	445	ENSP00000305596:H445D	ENSP00000305596:H445D	H	-	1	0	FAM71B	156522521	0.900000	0.30661	0.374000	0.26016	0.372000	0.29890	2.651000	0.46674	2.500000	0.84329	0.655000	0.94253	CAT	FAM71B	-	NULL		0.502	FAM71B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71B	HGNC	protein_coding	OTTHUMT00000252570.2	G	NM_130899		156589943	-1	no_errors	ENST00000302938	ensembl	human	known	70_37	missense	SNP	0.320	C
FBXO15	201456	genome.wustl.edu	37	18	71793246	71793246	+	Silent	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr18:71793246G>A	ENST00000419743.2	-	6	955	c.876C>T	c.(874-876)ttC>ttT	p.F292F	FBXO15_ENST00000269500.5_Silent_p.F216F	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	292						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		GGTGCAGGCAGAAGATCCGAA	0.453																																																	0													129.0	110.0	116.0					18																	71793246		2203	4300	6503	SO:0001819	synonymous_variant	201456			AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"""F-boxes /  ""other"""""	13617	protein-coding gene	gene with protein product		609093	"""F-box only protein 15"""			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.876C>T	18.37:g.71793246G>A			B3KST3	Silent	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.F292	ENST00000419743.2	37	c.876	CCDS45884.1	18																																																																																			FBXO15	-	NULL		0.453	FBXO15-002	KNOWN	basic|CCDS	protein_coding	FBXO15	HGNC	protein_coding	OTTHUMT00000444223.1	G	NM_152676		71793246	-1	no_errors	ENST00000419743	ensembl	human	known	70_37	silent	SNP	0.998	A
FBXO38	81545	genome.wustl.edu	37	5	147820794	147820794	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr5:147820794G>A	ENST00000340253.5	+	21	3550	c.3382G>A	c.(3382-3384)Gaa>Aaa	p.E1128K	FBXO38_ENST00000296701.6_Missense_Mutation_p.E883K|FBXO38_ENST00000394370.3_Missense_Mutation_p.E1053K|FBXO38_ENST00000513826.1_Missense_Mutation_p.E883K			Q6PIJ6	FBX38_HUMAN	F-box protein 38	1128					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAGACGATGAAGAAAGTAA	0.418																																																	0													170.0	144.0	153.0					5																	147820794		2203	4300	6503	SO:0001583	missense	81545			BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.3382G>A	5.37:g.147820794G>A	ENSP00000342023:p.Glu1128Lys		Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like	p.E1128K	ENST00000340253.5	37	c.3382		5	.	.	.	.	.	.	.	.	.	.	G	36	5.602011	0.96614	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.35973	1.28;1.35;1.32;1.35	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.50274	0.1606	L	0.29908	0.895	0.39707	D	0.971279	D;D;D	0.76494	0.974;0.999;0.996	D;D;D	0.77557	0.953;0.981;0.99	T	0.52079	-0.8623	10	0.62326	D	0.03	-18.6459	18.3358	0.90287	0.0:0.0:1.0:0.0	.	883;1053;1128	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	K	1128;883;1053;883	ENSP00000342023:E1128K;ENSP00000296701:E883K;ENSP00000377895:E1053K;ENSP00000426410:E883K	ENSP00000296701:E883K	E	+	1	0	FBXO38	147800987	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.328000	0.96403	2.750000	0.94351	0.591000	0.81541	GAA	FBXO38	-	NULL		0.418	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	FBXO38	HGNC	protein_coding	OTTHUMT00000252185.2	G	NM_030793		147820794	+1	no_errors	ENST00000340253	ensembl	human	known	70_37	missense	SNP	1.000	A
FBXO46	23403	genome.wustl.edu	37	19	46216269	46216269	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:46216269G>A	ENST00000317683.3	-	2	618	c.485C>T	c.(484-486)tCa>tTa	p.S162L		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	162										breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CTCACCGGCTGAGGCGGGGCC	0.716																																																	0													6.0	8.0	7.0					19																	46216269		1912	4057	5969	SO:0001583	missense	23403			BC021978	CCDS46116.1	19q13.3	2008-02-05	2004-06-15	2004-06-16		ENSG00000177051		"""F-boxes /  ""other"""""	25069	protein-coding gene	gene with protein product		609117	"""F-box only protein 34-like"""	FBXO34L		9585442	Standard	NM_001080469		Approved	20D7-FC4, Fbx46	uc002pcz.3	Q6PJ61		ENST00000317683.3:c.485C>T	19.37:g.46216269G>A	ENSP00000410007:p.Ser162Leu			Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.S162L	ENST00000317683.3	37	c.485	CCDS46116.1	19	.	.	.	.	.	.	.	.	.	.	g	5.330	0.246218	0.10130	.	.	ENSG00000177051	ENST00000317683	.	.	.	4.24	3.14	0.36123	.	.	.	.	.	T	0.24661	0.0598	L	0.29908	0.895	0.09310	N	1	B	0.32829	0.386	B	0.28139	0.086	T	0.10268	-1.0637	8	0.49607	T	0.09	-10.9181	9.1274	0.36824	0.0:0.2451:0.7549:0.0	.	162	Q6PJ61	FBX46_HUMAN	L	162	.	ENSP00000410007:S162L	S	-	2	0	FBXO46	50908109	0.002000	0.14202	0.036000	0.18154	0.208000	0.24298	0.632000	0.24583	2.202000	0.70862	0.558000	0.71614	TCA	FBXO46	-	NULL		0.716	FBXO46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO46	HGNC	protein_coding	OTTHUMT00000459661.1	G	XM_371179		46216269	-1	no_errors	ENST00000317683	ensembl	human	known	70_37	missense	SNP	0.031	A
FLJ22763	401081	genome.wustl.edu	37	3	108867262	108867262	+	lincRNA	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:108867262C>T	ENST00000467240.1	+	0	244					NR_033977.1																						AATGGTCCTTCACCATTTATC	0.383																																																	0																																												401081																															3.37:g.108867262C>T				RNA	SNP	-	NULL	ENST00000467240.1	37	NULL		3																																																																																			RP11-59E19.1	-	-		0.383	RP11-59E19.1-001	KNOWN	basic	lincRNA	FLJ22763	Clone_based_vega_gene	lincRNA	OTTHUMT00000353832.1	C			108867262	+1	no_errors	ENST00000467240	ensembl	human	known	70_37	rna	SNP	0.000	T
FRMD3	257019	genome.wustl.edu	37	9	85862838	85862838	+	Missense_Mutation	SNP	A	A	G			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr9:85862838A>G	ENST00000304195.3	-	14	1995	c.1789T>C	c.(1789-1791)Tca>Cca	p.S597P	FRMD3_ENST00000376438.1_Intron|FRMD3_ENST00000376434.1_Intron|FRMD3_ENST00000465485.1_5'Flank|FRMD3_ENST00000328788.1_Intron	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	597						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TAACTTCATGAGCAACCCAGC	0.473																																																	0													198.0	199.0	198.0					9																	85862838		1929	4132	6061	SO:0001583	missense	257019			AK094281	CCDS43840.1, CCDS59131.1, CCDS59132.1, CCDS59133.1, CCDS75852.1	9q21.33	2008-02-05			ENSG00000172159	ENSG00000172159			24125	protein-coding gene	gene with protein product		607619				12601556	Standard	NM_174938		Approved	EPB41L4O, MGC20553	uc004ams.2	A2A2Y4	OTTHUMG00000020103	ENST00000304195.3:c.1789T>C	9.37:g.85862838A>G	ENSP00000303508:p.Ser597Pro		A8MQB0|B4DN14|Q53EP2|Q5JV59|Q5VZA1|Q86WP8|Q8IZ44|Q8N3Y5|Q8N9L2	Missense_Mutation	SNP	pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.S597P	ENST00000304195.3	37	c.1789	CCDS43840.1	9	.	.	.	.	.	.	.	.	.	.	A	12.29	1.892860	0.33442	.	.	ENSG00000172159	ENST00000304195	D	0.84223	-1.82	5.52	5.52	0.82312	.	0.345157	0.27754	N	0.017992	T	0.70430	0.3223	N	0.08118	0	0.29920	N	0.822816	P	0.44578	0.838	B	0.38562	0.276	T	0.73316	-0.4021	10	0.72032	D	0.01	.	10.8348	0.46681	0.8592:0.0:0.0:0.1408	.	597	A2A2Y4	FRMD3_HUMAN	P	597	ENSP00000303508:S597P	ENSP00000303508:S597P	S	-	1	0	FRMD3	85052658	1.000000	0.71417	0.995000	0.50966	0.846000	0.48090	6.021000	0.70832	2.100000	0.63781	0.533000	0.62120	TCA	FRMD3	-	NULL		0.473	FRMD3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	FRMD3	HGNC	protein_coding	OTTHUMT00000157355.1	A	NM_174938		85862838	-1	no_errors	ENST00000304195	ensembl	human	known	70_37	missense	SNP	1.000	G
FSCN3	29999	genome.wustl.edu	37	7	127231783	127231783	+	5'Flank	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr7:127231783G>A	ENST00000265825.5	+	0	0				FSCN3_ENST00000420086.2_5'Flank|FSCN3_ENST00000478328.1_3'UTR|GCC1_ENST00000497650.1_Intron	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular							actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CTGCAAAGGAGAGGCTAGGTT	0.522																																																	0																																										SO:0001631	upstream_gene_variant	29999				CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935		7.37:g.127231783G>A	Exception_encountered		A4D0Z2|A6NLL7|B2RA62|B4DU68	RNA	SNP	-	NULL	ENST00000265825.5	37	NULL	CCDS34746.1	7																																																																																			FSCN3	-	-		0.522	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCN3	HGNC	protein_coding	OTTHUMT00000059256.2	G	NM_020369		127231783	+1	no_errors	ENST00000478328	ensembl	human	known	70_37	rna	SNP	0.118	A
FTH1P3	2498	genome.wustl.edu	37	5	17354384	17354384	+	lincRNA	SNP	C	C	G			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr5:17354384C>G	ENST00000511821.1	+	0	243				FTH1P10_ENST00000401830.3_RNA																							TGGCAAAGTTCTTCAAAGCCA	0.493																																																	0																																												2502																															5.37:g.17354384C>G				RNA	SNP	-	NULL	ENST00000511821.1	37	NULL		5																																																																																			FTH1P10	-	-		0.493	CTD-2139B15.2-001	KNOWN	basic	lincRNA	FTH1P10	HGNC	lincRNA	OTTHUMT00000366261.1	C			17354384	-1	no_errors	ENST00000401830	ensembl	human	known	70_37	rna	SNP	1.000	G
FUNDC2	65991	genome.wustl.edu	37	X	154282927	154282927	+	Silent	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chrX:154282927C>T	ENST00000369498.3	+	5	804	c.550C>T	c.(550-552)Ctg>Ttg	p.L184L	FUNDC2_ENST00000484175.1_3'UTR	NM_023934.3	NP_076423.2	Q9BWH2	FUND2_HUMAN	FUN14 domain containing 2	184						mitochondrion (GO:0005739)|nucleus (GO:0005634)		p.L184V(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGGAGGCTTTCTGCTTGGCAT	0.448																																																	1	Substitution - Missense(1)	breast(1)											149.0	137.0	141.0					X																	154282927		2203	4300	6503	SO:0001819	synonymous_variant	65991			AF267862	CCDS14763.1	Xq28	2010-03-12			ENSG00000165775	ENSG00000165775			24925	protein-coding gene	gene with protein product						12477932	Standard	NM_023934		Approved	HCBP6, DC44	uc004fmw.3	Q9BWH2	OTTHUMG00000013504	ENST00000369498.3:c.550C>T	X.37:g.154282927C>T			B2R7W5|D3DWY5|Q8NHX8|Q9H2I6	Silent	SNP	pfam_FUN14	p.L184	ENST00000369498.3	37	c.550	CCDS14763.1	X																																																																																			FUNDC2	-	pfam_FUN14		0.448	FUNDC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUNDC2	HGNC	protein_coding	OTTHUMT00000037641.3	C	NM_023934		154282927	+1	no_errors	ENST00000369498	ensembl	human	known	70_37	silent	SNP	1.000	T
FUT2	2524	genome.wustl.edu	37	19	49206750	49206750	+	Missense_Mutation	SNP	G	G	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:49206750G>T	ENST00000425340.2	+	2	654	c.537G>T	c.(535-537)caG>caT	p.Q179H	FUT2_ENST00000391876.4_Missense_Mutation_p.Q179H	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	179					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		AGGAGGCCCAGAAGTTCCTGC	0.637																																																	0													31.0	35.0	34.0					19																	49206750		2203	4300	6503	SO:0001583	missense	2524				CCDS33069.1	19q13.33	2014-07-19			ENSG00000176920	ENSG00000176920		"""Fucosyltransferases"""	4013	protein-coding gene	gene with protein product	"""alpha (1,2) fucosyltransferase"", ""galactoside 2-alpha-L-fucosyltransferase 2"", ""GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2"", ""alpha(1,2)FT2"", ""secretor factor"", ""secretor blood group alpha-2-fucosyltransferase"""	182100		SE		1763885	Standard	NM_000511		Approved	sej, Se2, SEC2	uc010emc.3	Q10981	OTTHUMG00000164427	ENST00000425340.2:c.537G>T	19.37:g.49206750G>T	ENSP00000387498:p.Gln179His		Q0VAG5|Q14338|Q5D0G2	Missense_Mutation	SNP	pfam_Glyco_trans_11	p.Q179H	ENST00000425340.2	37	c.537	CCDS33069.1	19	.	.	.	.	.	.	.	.	.	.	G	13.55	2.271880	0.40194	.	.	ENSG00000176920	ENST00000522966;ENST00000425340;ENST00000391876	D;D;D	0.96940	-4.18;-4.18;-4.18	5.05	4.0	0.46444	.	.	.	.	.	D	0.97929	0.9319	M	0.89715	3.055	0.27401	N	0.954851	D	0.89917	1.0	D	0.91635	0.999	D	0.92996	0.6419	9	0.87932	D	0	.	5.9526	0.19255	0.096:0.0:0.7129:0.1911	.	179	Q10981	FUT2_HUMAN	H	179	ENSP00000430227:Q179H;ENSP00000387498:Q179H;ENSP00000375748:Q179H	ENSP00000375748:Q179H	Q	+	3	2	FUT2	53898562	0.945000	0.32115	0.853000	0.33588	0.079000	0.17450	1.440000	0.35024	2.500000	0.84329	0.549000	0.68633	CAG	FUT2	-	pfam_Glyco_trans_11		0.637	FUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT2	HGNC	protein_coding	OTTHUMT00000378731.2	G	NM_000511		49206750	+1	no_errors	ENST00000391876	ensembl	human	known	70_37	missense	SNP	0.766	T
FUT2	2524	genome.wustl.edu	37	19	49206957	49206957	+	Missense_Mutation	SNP	G	G	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:49206957G>T	ENST00000425340.2	+	2	861	c.744G>T	c.(742-744)tgG>tgT	p.W248C	FUT2_ENST00000391876.4_Missense_Mutation_p.W248C	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	248					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		GCATGGCCTGGTGTCGGGAGA	0.577																																																	0													173.0	152.0	159.0					19																	49206957		2203	4300	6503	SO:0001583	missense	2524				CCDS33069.1	19q13.33	2014-07-19			ENSG00000176920	ENSG00000176920		"""Fucosyltransferases"""	4013	protein-coding gene	gene with protein product	"""alpha (1,2) fucosyltransferase"", ""galactoside 2-alpha-L-fucosyltransferase 2"", ""GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2"", ""alpha(1,2)FT2"", ""secretor factor"", ""secretor blood group alpha-2-fucosyltransferase"""	182100		SE		1763885	Standard	NM_000511		Approved	sej, Se2, SEC2	uc010emc.3	Q10981	OTTHUMG00000164427	ENST00000425340.2:c.744G>T	19.37:g.49206957G>T	ENSP00000387498:p.Trp248Cys		Q0VAG5|Q14338|Q5D0G2	Missense_Mutation	SNP	pfam_Glyco_trans_11	p.W248C	ENST00000425340.2	37	c.744	CCDS33069.1	19	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425613	0.43020	.	.	ENSG00000176920	ENST00000425340;ENST00000391876	D;D	0.99298	-5.71;-5.71	5.16	5.16	0.70880	.	.	.	.	.	D	0.99518	0.9828	M	0.91612	3.225	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98304	1.0520	8	.	.	.	.	16.5024	0.84261	0.0:0.0:1.0:0.0	.	248	Q10981	FUT2_HUMAN	C	248	ENSP00000387498:W248C;ENSP00000375748:W248C	.	W	+	3	0	FUT2	53898769	1.000000	0.71417	1.000000	0.80357	0.057000	0.15508	5.873000	0.69644	2.559000	0.86315	0.549000	0.68633	TGG	FUT2	-	pfam_Glyco_trans_11		0.577	FUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT2	HGNC	protein_coding	OTTHUMT00000378731.2	G	NM_000511		49206957	+1	no_errors	ENST00000391876	ensembl	human	known	70_37	missense	SNP	1.000	T
FUT2	2524	genome.wustl.edu	37	19	49207015	49207015	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:49207015G>T	ENST00000425340.2	+	2	919	c.802G>T	c.(802-804)Gag>Tag	p.E268*	FUT2_ENST00000391876.4_Nonsense_Mutation_p.E268*	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	268					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|protein glycosylation (GO:0006486)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	fucosyltransferase activity (GO:0008417)|galactoside 2-alpha-L-fucosyltransferase activity (GO:0008107)			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		CGATGGCATTGAGGGCTCACC	0.562																																																	0													268.0	217.0	235.0					19																	49207015		2203	4300	6503	SO:0001587	stop_gained	2524				CCDS33069.1	19q13.33	2014-07-19			ENSG00000176920	ENSG00000176920		"""Fucosyltransferases"""	4013	protein-coding gene	gene with protein product	"""alpha (1,2) fucosyltransferase"", ""galactoside 2-alpha-L-fucosyltransferase 2"", ""GDP-L-fucose:beta-D-galactoside 2-alpha-L-fucosyltransferase 2"", ""alpha(1,2)FT2"", ""secretor factor"", ""secretor blood group alpha-2-fucosyltransferase"""	182100		SE		1763885	Standard	NM_000511		Approved	sej, Se2, SEC2	uc010emc.3	Q10981	OTTHUMG00000164427	ENST00000425340.2:c.802G>T	19.37:g.49207015G>T	ENSP00000387498:p.Glu268*		Q0VAG5|Q14338|Q5D0G2	Nonsense_Mutation	SNP	pfam_Glyco_trans_11	p.E268*	ENST00000425340.2	37	c.802	CCDS33069.1	19	.	.	.	.	.	.	.	.	.	.	G	16.10	3.028051	0.54790	.	.	ENSG00000176920	ENST00000425340;ENST00000391876	.	.	.	4.99	4.99	0.66335	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1416	0.81528	0.0:0.0:1.0:0.0	.	.	.	.	X	268	.	.	E	+	1	0	FUT2	53898827	1.000000	0.71417	0.115000	0.21578	0.133000	0.20885	4.259000	0.58828	2.465000	0.83290	0.549000	0.68633	GAG	FUT2	-	pfam_Glyco_trans_11		0.562	FUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT2	HGNC	protein_coding	OTTHUMT00000378731.2	G	NM_000511		49207015	+1	no_errors	ENST00000391876	ensembl	human	known	70_37	nonsense	SNP	0.921	T
GABRE	2564	genome.wustl.edu	37	X	151123464	151123464	+	Silent	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chrX:151123464G>A	ENST00000370328.3	-	9	1283	c.1230C>T	c.(1228-1230)gtC>gtT	p.V410V	AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370325.1_3'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	410					gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CCTCAGTGGTGACAATCTGGC	0.617																																																	0													33.0	27.0	29.0					X																	151123464		2203	4299	6502	SO:0001819	synonymous_variant	2564			Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.1230C>T	X.37:g.151123464G>A			E7ET93|O15345|O15346|Q6PCD2|Q99520	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAe_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.V410	ENST00000370328.3	37	c.1230	CCDS14703.1	X																																																																																			GABRE	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAe_rcpt,tigrfam_Neur_channel		0.617	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRE	HGNC	protein_coding	OTTHUMT00000060903.1	G	NM_004961, NM_021990, NM_021984		151123464	-1	no_errors	ENST00000370328	ensembl	human	known	70_37	silent	SNP	0.000	A
GAGE10	643832	genome.wustl.edu	37	X	49173691	49173691	+	Silent	SNP	G	G	A	rs368704784		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chrX:49173691G>A	ENST00000407599.3	+	4	345	c.252G>A	c.(250-252)ggG>ggA	p.G84G		NM_001098413.2	NP_001091883.2	A6NGK3	GAG10_HUMAN	G antigen 10	84										breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)	4	Ovarian(276;0.236)					CAAAGACTGGGTGTGAGTGTG	0.453																																																	0													136.0	137.0	137.0					X																	49173691		2203	4300	6503	SO:0001819	synonymous_variant	102724473					Xp11.23	2010-06-03			ENSG00000215274	ENSG00000215274			30968	protein-coding gene	gene with protein product							Standard	XM_006710256		Approved	OTTHUMG00000024136	uc010nir.1	A6NGK3	OTTHUMG00000024136	ENST00000407599.3:c.252G>A	X.37:g.49173691G>A				Silent	SNP	pfam_GAGE	p.G84	ENST00000407599.3	37	c.252	CCDS43938.1	X																																																																																			GAGE10	-	pfam_GAGE		0.453	GAGE10-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	GAGE10	HGNC	protein_coding	OTTHUMT00000060816.1	G	NM_001098413		49173691	+1	no_errors	ENST00000407599	ensembl	human	known	70_37	silent	SNP	0.000	A
GABRE	2564	genome.wustl.edu	37	X	151127557	151127557	+	Intron	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chrX:151127557G>A	ENST00000370328.3	-	6	838				AF274855.1_ENST00000582865.1_RNA|GABRE_ENST00000483564.1_5'Flank|MIR452_ENST00000385020.1_RNA|GABRE_ENST00000393914.3_Silent_p.L90L|GABRE_ENST00000370325.1_Intron|MIR224_ENST00000384889.1_RNA	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon						gamma-aminobutyric acid signaling pathway (GO:0007214)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GATGTGTGAAGAGTGTTTCCA	0.532																																																	0																																										SO:0001627	intron_variant	2564			Y09765	CCDS14703.1	Xq28	2012-06-22			ENSG00000102287	ENSG00000102287		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4085	protein-coding gene	gene with protein product	"""GABA(A) receptor, epsilon"""	300093				9039914, 9084408	Standard	NM_004961		Approved		uc004ffi.3	P78334	OTTHUMG00000024176	ENST00000370328.3:c.784+753C>T	X.37:g.151127557G>A			E7ET93|O15345|O15346|Q6PCD2|Q99520	Silent	SNP	NULL	p.L90	ENST00000370328.3	37	c.270	CCDS14703.1	X																																																																																			GABRE	-	NULL		0.532	GABRE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRE	HGNC	protein_coding	OTTHUMT00000060903.1	G	NM_004961, NM_021990, NM_021984		151127557	-1	no_errors	ENST00000393914	ensembl	human	known	70_37	silent	SNP	0.780	A
GAMT	2593	genome.wustl.edu	37	19	1399900	1399900	+	Silent	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:1399900G>A	ENST00000252288.2	-	2	285	c.219C>T	c.(217-219)atC>atT	p.I73I	GAMT_ENST00000447102.3_Silent_p.I73I	NM_000156.5	NP_000147.1	Q14353	GAMT_HUMAN	guanidinoacetate N-methyltransferase	73	RMT2. {ECO:0000255|PROSITE- ProRule:PRU00892}.|S-adenosyl-L-methionine binding.				cellular nitrogen compound metabolic process (GO:0034641)|creatine biosynthetic process (GO:0006601)|creatine metabolic process (GO:0006600)|muscle contraction (GO:0006936)|organ morphogenesis (GO:0009887)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	guanidinoacetate N-methyltransferase activity (GO:0030731)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1)	6		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	Creatine(DB00148)|Guanidine(DB00536)	TTGACGCTGCGATGGCCATGC	0.662																																					Colon(167;1531 1939 13427 28842 31956)												0													34.0	29.0	31.0					19																	1399900		2195	4297	6492	SO:0001819	synonymous_variant	2593			Z49878	CCDS12064.1, CCDS45897.1	19p13.3	2008-02-05							4136	protein-coding gene	gene with protein product		601240				9570966, 8547310	Standard	NM_000156		Approved	PIG2, TP53I2	uc002lsk.4	Q14353		ENST00000252288.2:c.219C>T	19.37:g.1399900G>A			A8K0A0|Q53Y34|Q8WVJ1	Silent	SNP	NULL	p.I73	ENST00000252288.2	37	c.219	CCDS12064.1	19																																																																																			GAMT	-	NULL		0.662	GAMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAMT	HGNC	protein_coding	OTTHUMT00000449739.1	G	NM_138924		1399900	-1	no_errors	ENST00000447102	ensembl	human	known	70_37	silent	SNP	1.000	A
GEMIN7	79760	genome.wustl.edu	37	19	45593642	45593642	+	Silent	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:45593642C>T	ENST00000270257.4	+	3	517	c.270C>T	c.(268-270)gcC>gcT	p.A90A	GEMIN7_ENST00000591747.1_Silent_p.A90A|GEMIN7_ENST00000591607.1_Silent_p.A90A|CTB-179K24.3_ENST00000586556.1_RNA|CTB-179K24.3_ENST00000586744.1_RNA|GEMIN7_ENST00000391951.2_Silent_p.A90A|PPP1R37_ENST00000221462.4_5'Flank|PPP1R37_ENST00000421905.1_5'Flank	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	90					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|spliceosomal snRNP assembly (GO:0000387)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMN complex (GO:0032797)|SMN-Sm protein complex (GO:0034719)				endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		GTGTGGCCGCCCACTTTGGAG	0.627																																																	0													54.0	50.0	52.0					19																	45593642		2203	4300	6503	SO:0001819	synonymous_variant	79760			AK024018	CCDS12654.1	19q13.32	2008-02-05				ENSG00000142252			20045	protein-coding gene	gene with protein product		607419				12065586	Standard	NM_024707		Approved	FLJ13956	uc002pap.1	Q9H840		ENST00000270257.4:c.270C>T	19.37:g.45593642C>T			Q6IA34	Silent	SNP	pfam_SMN_gemin7	p.A90	ENST00000270257.4	37	c.270	CCDS12654.1	19																																																																																			GEMIN7	-	pfam_SMN_gemin7		0.627	GEMIN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GEMIN7	HGNC	protein_coding	OTTHUMT00000457533.1	C			45593642	+1	no_errors	ENST00000270257	ensembl	human	known	70_37	silent	SNP	1.000	T
GFI1B	8328	genome.wustl.edu	37	9	135862686	135862686	+	Missense_Mutation	SNP	C	C	G	rs377661083		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr9:135862686C>G	ENST00000339463.3	+	7	937	c.118C>G	c.(118-120)Cca>Gca	p.P40A	GFI1B_ENST00000372122.1_Missense_Mutation_p.P40A|GFI1B_ENST00000534944.1_Missense_Mutation_p.P40A|GFI1B_ENST00000372124.1_Missense_Mutation_p.P40A|GFI1B_ENST00000450530.1_Missense_Mutation_p.P40A|GFI1B_ENST00000372123.1_Missense_Mutation_p.P40A			Q5VTD9	GFI1B_HUMAN	growth factor independent 1B transcription repressor	40					cell proliferation (GO:0008283)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of histone H3-K9 methylation (GO:0051574)|regulation of erythrocyte differentiation (GO:0045646)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear matrix (GO:0016363)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II transcription factor binding (GO:0001085)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		AGACCAGGCTCCAAGCAACAG	0.587																																																	0													96.0	72.0	80.0					9																	135862686		2203	4300	6503	SO:0001583	missense	8328			AF081946	CCDS6957.1, CCDS48049.1	9q34.13	2014-09-17	2007-10-04		ENSG00000165702	ENSG00000165702		"""Zinc fingers, C2H2-type"""	4238	protein-coding gene	gene with protein product		604383	"""growth factor independent 1B (potential regulator of CDKN1A, translocated in CML)"""			9878267	Standard	NM_001135031		Approved		uc004ccg.3	Q5VTD9	OTTHUMG00000020848	ENST00000339463.3:c.118C>G	9.37:g.135862686C>G	ENSP00000344782:p.Pro40Ala		O95270|Q5VTD8|Q6FHZ2|Q6T888	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P40A	ENST00000339463.3	37	c.118	CCDS6957.1	9	.	.	.	.	.	.	.	.	.	.	C	1.410	-0.575881	0.03882	.	.	ENSG00000165702	ENST00000372124;ENST00000339463;ENST00000450530;ENST00000534944;ENST00000372123;ENST00000372122	T;T;T;T;T;T	0.08458	3.14;3.09;3.09;3.14;3.14;3.09	4.68	3.76	0.43208	.	0.766799	0.11741	N	0.534023	T	0.04588	0.0125	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.43327	-0.9398	10	0.16420	T	0.52	-0.4482	10.3494	0.43924	0.1963:0.8037:0.0:0.0	.	40;40	Q5VTD9-2;Q5VTD9	.;GFI1B_HUMAN	A	40	ENSP00000361197:P40A;ENSP00000344782:P40A;ENSP00000409546:P40A;ENSP00000446134:P40A;ENSP00000361196:P40A;ENSP00000361195:P40A	ENSP00000344782:P40A	P	+	1	0	GFI1B	134852507	0.001000	0.12720	0.012000	0.15200	0.002000	0.02628	0.549000	0.23329	1.056000	0.40484	0.655000	0.94253	CCA	GFI1B	-	NULL		0.587	GFI1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GFI1B	HGNC	protein_coding	OTTHUMT00000393840.1	C	NM_004188		135862686	+1	no_errors	ENST00000339463	ensembl	human	known	70_37	missense	SNP	0.018	G
GGA1	26088	genome.wustl.edu	37	22	38019460	38019460	+	Nonsense_Mutation	SNP	G	G	T	rs368649058		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr22:38019460G>T	ENST00000343632.4	+	8	1122	c.736G>T	c.(736-738)Gag>Tag	p.E246*	GGA1_ENST00000406772.1_Nonsense_Mutation_p.E173*|GGA1_ENST00000337437.4_Nonsense_Mutation_p.E213*|GGA1_ENST00000381756.5_Nonsense_Mutation_p.E263*|GGA1_ENST00000325180.8_Nonsense_Mutation_p.E246*	NM_001172687.1|NM_013365.4	NP_001166158.1|NP_037497.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	246	GAT. {ECO:0000255|PROSITE- ProRule:PRU00373}.|Interaction with ARF3.				intracellular protein transport (GO:0006886)|positive regulation of protein catabolic process (GO:0045732)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					TGGCAGCAGCGAGGACCTCAT	0.637											OREG0026543	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													129.0	105.0	114.0					22																	38019460		2203	4300	6503	SO:0001587	stop_gained	26088			AF190862	CCDS13951.1, CCDS33643.1, CCDS54526.1	22q13.31	2010-02-12	2010-02-12		ENSG00000100083	ENSG00000100083			17842	protein-coding gene	gene with protein product		606004				10747088, 10747089, 16407204	Standard	NM_013365		Approved		uc003atc.3	Q9UJY5	OTTHUMG00000030985	ENST00000343632.4:c.736G>T	22.37:g.38019460G>T	ENSP00000341344:p.Glu246*	875	A8K3D3|B0QYR7|Q5TG07|Q86YA9|Q8NCS6|Q9BW94|Q9UG00|Q9UGW0|Q9UGW1	Nonsense_Mutation	SNP	pfam_VHS,pfam_GAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_ENTH_VHS,smart_VHS_subgr,smart_Clathrin_a/b/g-adaptin_app_Ig,pfscan_Clathrin_g-adaptin_app,pfscan_GAT,pfscan_VHS	p.E246*	ENST00000343632.4	37	c.736	CCDS13951.1	22	.	.	.	.	.	.	.	.	.	.	G	37	6.161536	0.97338	.	.	ENSG00000100083	ENST00000343632;ENST00000381756;ENST00000325180;ENST00000337437;ENST00000449944;ENST00000406772	.	.	.	4.92	4.92	0.64577	.	0.268169	0.40469	N	0.001085	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07990	T	0.79	-30.2844	18.1031	0.89512	0.0:0.0:1.0:0.0	.	.	.	.	X	246;263;246;213;238;173	.	ENSP00000321288:E246X	E	+	1	0	GGA1	36349406	1.000000	0.71417	0.996000	0.52242	0.752000	0.42762	4.285000	0.58989	2.285000	0.76669	0.462000	0.41574	GAG	GGA1	-	pfam_GAT,pfscan_GAT		0.637	GGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GGA1	HGNC	protein_coding	OTTHUMT00000075873.3	G	NM_013365		38019460	+1	no_errors	ENST00000343632	ensembl	human	known	70_37	nonsense	SNP	1.000	T
GJA10	84694	genome.wustl.edu	37	6	90605391	90605391	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:90605391C>T	ENST00000369352.1	+	1	1204	c.1204C>T	c.(1204-1206)Ctt>Ttt	p.L402F	Y_RNA_ENST00000517082.1_RNA	NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	189					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)		p.L402I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TCTCACAGATCTTCATAGTCA	0.552																																																	1	Substitution - Missense(1)	lung(1)											72.0	72.0	72.0					6																	90605391		2203	4300	6503	SO:0001583	missense	84694			AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.1204C>T	6.37:g.90605391C>T	ENSP00000358358:p.Leu402Phe		B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.L402F	ENST00000369352.1	37	c.1204	CCDS5025.1	6	.	.	.	.	.	.	.	.	.	.	C	14.41	2.526691	0.44969	.	.	ENSG00000135355	ENST00000369352	D	0.97994	-4.65	5.6	-3.79	0.04320	.	1.439040	0.04732	N	0.421292	D	0.84633	0.5515	L	0.29908	0.895	0.09310	N	1	B	0.17038	0.02	B	0.17722	0.019	T	0.82961	-0.0197	10	0.09590	T	0.72	.	1.0545	0.01587	0.4073:0.2137:0.2073:0.1716	.	402	Q969M2	CXA10_HUMAN	F	402	ENSP00000358358:L402F	ENSP00000358358:L402F	L	+	1	0	GJA10	90662112	0.000000	0.05858	0.042000	0.18584	0.458000	0.32498	-0.411000	0.07142	-0.342000	0.08363	0.563000	0.77884	CTT	GJA10	-	NULL		0.552	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA10	HGNC	protein_coding	OTTHUMT00000041505.1	C	NM_032602		90605391	+1	no_errors	ENST00000369352	ensembl	human	known	70_37	missense	SNP	0.003	T
GJC2	57165	genome.wustl.edu	37	1	228345731	228345731	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:228345731C>T	ENST00000366714.2	+	2	447	c.272C>T	c.(271-273)tCg>tTg	p.S91L		NM_020435.3	NP_065168.2	Q5T442	CXG2_HUMAN	gap junction protein, gamma 2, 47kDa	91					cell death (GO:0008219)|cell-cell signaling (GO:0007267)|response to toxic substance (GO:0009636)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)	gap junction channel activity (GO:0005243)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				TCCACGCCCTCGGTCATGTAC	0.726																																																	0													41.0	34.0	37.0					1																	228345731		2203	4300	6503	SO:0001583	missense	57165			AF014643	CCDS1569.1	1q41-q42	2009-01-02	2007-12-14	2007-11-06	ENSG00000198835	ENSG00000198835		"""Ion channels / Gap junction proteins (connexins)"""	17494	protein-coding gene	gene with protein product	"""connexin 47"""	608803	"""gap junction protein, alpha 12, 47kDa"""	GJA12		19056803	Standard	NM_020435		Approved	CX47, CX46.6, SPG44	uc001hsk.3	Q5T442	OTTHUMG00000039771	ENST00000366714.2:c.272C>T	1.37:g.228345731C>T	ENSP00000355675:p.Ser91Leu		O43440|Q7Z7J2|Q8IWJ9	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.S91L	ENST00000366714.2	37	c.272	CCDS1569.1	1	.	.	.	.	.	.	.	.	.	.	C	15.39	2.819147	0.50633	.	.	ENSG00000198835	ENST00000366714	D	0.99194	-5.54	4.06	3.13	0.36017	Connexin, N-terminal (1);	0.000000	0.64402	D	0.000001	D	0.99093	0.9688	M	0.88640	2.97	0.53688	D	0.999976	D	0.64830	0.994	P	0.58172	0.834	D	0.99187	1.0869	10	0.87932	D	0	.	13.1743	0.59617	0.1603:0.8397:0.0:0.0	.	91	Q5T442	CXG2_HUMAN	L	91	ENSP00000355675:S91L	ENSP00000355675:S91L	S	+	2	0	GJC2	226412354	1.000000	0.71417	0.003000	0.11579	0.092000	0.18411	4.502000	0.60400	0.904000	0.36572	0.313000	0.20887	TCG	GJC2	-	pfam_Connexin_N,prints_Connexin		0.726	GJC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJC2	HGNC	protein_coding	OTTHUMT00000095985.1	C	NM_020435		228345731	+1	no_errors	ENST00000366714	ensembl	human	known	70_37	missense	SNP	0.731	T
GNA15	2769	genome.wustl.edu	37	19	3151814	3151814	+	Missense_Mutation	SNP	G	G	A	rs151214875	byFrequency	TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:3151814G>A	ENST00000262958.3	+	4	853	c.595G>A	c.(595-597)Gtg>Atg	p.V199M	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	199					activation of phospholipase C activity (GO:0007202)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	heterotrimeric G-protein complex (GO:0005834)|plasma membrane (GO:0005886)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		CTGCTTCTCCGTGCAGAAAAC	0.647																																																	0									MET/VAL	4,4402	8.1+/-20.4	0,4,2199	89.0	77.0	81.0		595	4.6	1.0	19	dbSNP_134	81	0,8600		0,0,4300	no	missense	GNA15	NM_002068.2	21	0,4,6499	AA,AG,GG		0.0,0.0908,0.0308	benign	199/375	3151814	4,13002	2203	4300	6503	SO:0001583	missense	2769				CCDS12104.1	19p13.3	2008-07-16				ENSG00000060558			4383	protein-coding gene	gene with protein product		139314				1302014	Standard	NM_002068		Approved	GNA16	uc002lxf.2	P30679		ENST00000262958.3:c.595G>A	19.37:g.3151814G>A	ENSP00000262958:p.Val199Met		E9KL40|E9KL47|O75247|Q53XK2	Missense_Mutation	SNP	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q	p.V199M	ENST00000262958.3	37	c.595	CCDS12104.1	19	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359282	0.61403	9.08E-4	0.0	ENSG00000060558	ENST00000262958	D	0.88664	-2.41	4.59	4.59	0.56863	.	0.149327	0.43919	D	0.000514	D	0.88269	0.6391	L	0.33339	1.005	0.42171	D	0.99164	B	0.33238	0.403	P	0.45681	0.49	D	0.89333	0.3648	10	0.72032	D	0.01	.	14.9063	0.70721	0.0:0.0:1.0:0.0	.	199	P30679	GNA15_HUMAN	M	199	ENSP00000262958:V199M	ENSP00000262958:V199M	V	+	1	0	GNA15	3102814	0.076000	0.21285	0.999000	0.59377	0.990000	0.78478	0.240000	0.18042	2.093000	0.63338	0.546000	0.68486	GTG	GNA15	-	pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,smart_Gprotein_alpha_su		0.647	GNA15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNA15	HGNC	protein_coding	OTTHUMT00000452320.2	G	NM_002068		3151814	+1	no_errors	ENST00000262958	ensembl	human	known	70_37	missense	SNP	0.999	A
FAM216A	29902	genome.wustl.edu	37	12	110906383	110906383	+	5'UTR	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr12:110906383C>T	ENST00000377673.5	+	0	215				GPN3_ENST00000552180.1_5'UTR|GPN3_ENST00000543199.1_Missense_Mutation_p.C20Y|GPN3_ENST00000537466.2_5'Flank|GPN3_ENST00000228827.3_5'Flank	NM_013300.2	NP_037432.2	Q8WUB2	F216A_HUMAN	family with sequence similarity 216, member A																		TCGCGATTTGCAAATGTGCTG	0.517																																																	0													344.0	305.0	317.0					12																	110906383		692	1591	2283	SO:0001623	5_prime_UTR_variant	51184			U79274	CCDS31899.1	12q24.11	2012-02-07	2012-02-07	2012-02-07	ENSG00000204856	ENSG00000204856			30180	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 24"""	C12orf24			Standard	NM_013300		Approved	HSU79274	uc001tqu.4	Q8WUB2	OTTHUMG00000169526	ENST00000377673.5:c.-298C>T	12.37:g.110906383C>T			A6NH30|Q99776	Missense_Mutation	SNP	pfam_Uncharacterised_ATP-bd	p.C20Y	ENST00000377673.5	37	c.59	CCDS31899.1	12	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452505	0.43531	.	.	ENSG00000111231	ENST00000543199	T	0.25250	1.81	4.54	3.64	0.41730	.	.	.	.	.	T	0.15305	0.0369	N	0.08118	0	0.24268	N	0.995259	.	.	.	.	.	.	T	0.09271	-1.0682	7	0.54805	T	0.06	.	7.7882	0.29103	0.0:0.8895:0.0:0.1105	.	.	.	.	Y	20	ENSP00000442770:C20Y	ENSP00000442770:C20Y	C	-	2	0	GPN3	109390766	0.533000	0.26354	0.009000	0.14445	0.079000	0.17450	1.667000	0.37471	2.506000	0.84524	0.462000	0.41574	TGC	GPN3	-	NULL		0.517	FAM216A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPN3	HGNC	protein_coding	OTTHUMT00000404616.1	C	NM_013300		110906383	-1	no_errors	ENST00000543199	ensembl	human	known	70_37	missense	SNP	0.006	T
GPR124	25960	genome.wustl.edu	37	8	37686464	37686464	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr8:37686464G>A	ENST00000412232.2	+	3	410	c.397G>A	c.(397-399)Gag>Aag	p.E133K	GPR124_ENST00000315215.7_Missense_Mutation_p.E133K	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	133					central nervous system development (GO:0007417)|endothelial cell migration (GO:0043542)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|neuropeptide signaling pathway (GO:0007218)|positive regulation of endothelial cell migration (GO:0010595)|regulation of angiogenesis (GO:0045765)|regulation of chemotaxis (GO:0050920)|regulation of establishment of blood-brain barrier (GO:0090210)|sprouting angiogenesis (GO:0002040)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GGGCCTGGGGGAGCTGAAGCG	0.662																																																	0													60.0	57.0	58.0					8																	37686464		2203	4300	6503	SO:0001583	missense	25960			AB040964	CCDS6097.2	8p11.22	2014-08-08			ENSG00000020181	ENSG00000020181		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17849	protein-coding gene	gene with protein product	"""tumor endothelial marker 5"""	606823				11559528, 12565841	Standard	NM_032777		Approved	TEM5, DKFZp434C211, DKFZp434J0911, KIAA1531, FLJ14390	uc003xkj.3	Q96PE1	OTTHUMG00000156182	ENST00000412232.2:c.397G>A	8.37:g.37686464G>A	ENSP00000406367:p.Glu133Lys		A6H8W3|D3DSW4|Q8N3R1|Q8TEM3|Q96KB2|Q9P1Z7|Q9UFY4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like	p.E133K	ENST00000412232.2	37	c.397	CCDS6097.2	8	.	.	.	.	.	.	.	.	.	.	G	18.60	3.658806	0.67586	.	.	ENSG00000020181	ENST00000428068;ENST00000416514;ENST00000315215;ENST00000412232	T;T;T	0.55052	0.54;0.54;0.54	5.85	5.85	0.93711	.	0.180123	0.47093	D	0.000253	T	0.37046	0.0989	N	0.12920	0.275	0.58432	D	0.999999	B;B	0.31153	0.216;0.31	B;B	0.33846	0.171;0.091	T	0.20505	-1.0273	10	0.07030	T	0.85	-27.7536	18.3581	0.90365	0.0:0.0:1.0:0.0	.	133;133	Q96PE1-2;Q96PE1	.;GP124_HUMAN	K	91;126;133;133	ENSP00000400860:E91K;ENSP00000323508:E133K;ENSP00000406367:E133K	ENSP00000323508:E133K	E	+	1	0	GPR124	37805622	1.000000	0.71417	0.999000	0.59377	0.563000	0.35712	8.275000	0.89892	2.771000	0.95319	0.561000	0.74099	GAG	GPR124	-	smart_Leu-rich_rpt_typical-subtyp		0.662	GPR124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR124	HGNC	protein_coding	OTTHUMT00000343331.2	G			37686464	+1	no_errors	ENST00000412232	ensembl	human	known	70_37	missense	SNP	0.982	A
GPR63	81491	genome.wustl.edu	37	6	97246639	97246639	+	Missense_Mutation	SNP	G	G	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:97246639G>C	ENST00000229955.3	-	2	1314	c.969C>G	c.(967-969)ttC>ttG	p.F323L	RP3-417O22.3_ENST00000442184.1_RNA|GPR63_ENST00000417980.1_Missense_Mutation_p.F323L	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	323						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	G-protein coupled receptor activity (GO:0004930)			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		AGCAGACAATGAAGACAGCAA	0.448																																																	0													108.0	90.0	96.0					6																	97246639		2203	4300	6503	SO:0001583	missense	81491			AF317654	CCDS5036.1	6q16.1-q16.3	2012-08-21			ENSG00000112218	ENSG00000112218		"""GPCR / Class A : Orphans"""	13302	protein-coding gene	gene with protein product		606915					Standard	NM_030784		Approved	PSP24(beta), PSP24B	uc003pou.3	Q9BZJ6	OTTHUMG00000015245	ENST00000229955.3:c.969C>G	6.37:g.97246639G>C	ENSP00000229955:p.Phe323Leu		Q9UJH3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.F323L	ENST00000229955.3	37	c.969	CCDS5036.1	6	.	.	.	.	.	.	.	.	.	.	G	17.22	3.333928	0.60853	.	.	ENSG00000112218	ENST00000536583;ENST00000417980;ENST00000229955;ENST00000369268	T;T;T	0.56611	0.45;0.45;0.45	5.2	5.2	0.72013	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.74642	0.3743	H	0.94345	3.525	0.58432	D	0.999994	D	0.76494	0.999	D	0.74674	0.984	T	0.81331	-0.0981	10	0.87932	D	0	-10.1458	12.4686	0.55773	0.0774:0.0:0.9226:0.0	.	323	Q9BZJ6	GPR63_HUMAN	L	347;323;323;323	ENSP00000393170:F323L;ENSP00000229955:F323L;ENSP00000358273:F323L	ENSP00000229955:F323L	F	-	3	2	GPR63	97353360	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.121000	0.57904	2.595000	0.87683	0.650000	0.86243	TTC	GPR63	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.448	GPR63-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR63	HGNC	protein_coding	OTTHUMT00000041566.2	G			97246639	-1	no_errors	ENST00000229955	ensembl	human	known	70_37	missense	SNP	1.000	C
GPRASP2	114928	genome.wustl.edu	37	X	101971104	101971104	+	Missense_Mutation	SNP	G	G	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chrX:101971104G>C	ENST00000535209.1	+	4	2138	c.1307G>C	c.(1306-1308)aGa>aCa	p.R436T	GPRASP2_ENST00000543253.1_Missense_Mutation_p.R436T|GPRASP2_ENST00000332262.5_Missense_Mutation_p.R436T			Q96D09	GASP2_HUMAN	G protein-coupled receptor associated sorting protein 2	436						cytoplasm (GO:0005737)	beta-amyloid binding (GO:0001540)			breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						GCTGTGGCCAGAGAAGAGGCC	0.562																																																	0													85.0	84.0	84.0					X																	101971104		2203	4300	6503	SO:0001583	missense	114928			AK094646	CCDS14501.1	Xq22.1	2014-03-21			ENSG00000158301	ENSG00000158301		"""Armadillo repeat containing"""	25169	protein-coding gene	gene with protein product						15086532, 16221301	Standard	NM_138437		Approved	GASP2, FLJ37327		Q96D09	OTTHUMG00000022059	ENST00000535209.1:c.1307G>C	X.37:g.101971104G>C	ENSP00000437394:p.Arg436Thr		D3DXA0|Q8NAB4	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.R436T	ENST00000535209.1	37	c.1307	CCDS14501.1	X	.	.	.	.	.	.	.	.	.	.	G	0.446	-0.896208	0.02472	.	.	ENSG00000158301	ENST00000543253;ENST00000535209;ENST00000332262	T;T;T	0.07216	3.21;3.21;3.21	4.44	3.58	0.41010	.	0.304119	0.23993	N	0.042552	T	0.06142	0.0159	L	0.29908	0.895	0.20563	N	0.999889	P	0.39216	0.664	B	0.38500	0.275	T	0.31530	-0.9940	10	0.12103	T	0.63	.	9.7201	0.40297	0.1045:0.0:0.8955:0.0	.	436	Q96D09	GASP2_HUMAN	T	436	ENSP00000437872:R436T;ENSP00000437394:R436T;ENSP00000339057:R436T	ENSP00000339057:R436T	R	+	2	0	GPRASP2	101857760	1.000000	0.71417	0.961000	0.40146	0.723000	0.41478	2.476000	0.45171	1.228000	0.43614	0.600000	0.82982	AGA	GPRASP2	-	NULL		0.562	GPRASP2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRASP2	HGNC	protein_coding	OTTHUMT00000057626.2	G	NM_138437		101971104	+1	no_errors	ENST00000332262	ensembl	human	known	70_37	missense	SNP	0.387	C
GRP	2922	genome.wustl.edu	37	18	56887606	56887606	+	Missense_Mutation	SNP	A	A	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr18:56887606A>T	ENST00000256857.2	+	1	207	c.109A>T	c.(109-111)Atg>Ttg	p.M37L	GRP_ENST00000529320.2_Missense_Mutation_p.M37L|GRP_ENST00000420468.2_Missense_Mutation_p.M37L	NM_001012512.1|NM_002091.3	NP_001012530.1|NP_002082.2	P07492	GRP_HUMAN	gastrin-releasing peptide	37					neuropeptide signaling pathway (GO:0007218)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	neuropeptide hormone activity (GO:0005184)|receptor binding (GO:0005102)			large_intestine(1)|lung(3)	4		Colorectal(73;0.0946)				GCTGACCAAGATGTACCCGCG	0.736																																																	0													6.0	8.0	8.0					18																	56887606		2128	4164	6292	SO:0001583	missense	2922				CCDS11971.1, CCDS45877.1, CCDS45878.1	18q21.1-q21.32	2013-02-26			ENSG00000134443	ENSG00000134443		"""Endogenous ligands"""	4605	protein-coding gene	gene with protein product	"""bombesin"", ""neuromedin C"", ""prepro-GRP"""	137260					Standard	NM_002091		Approved		uc002lhv.3	P07492	OTTHUMG00000132760	ENST00000256857.2:c.109A>T	18.37:g.56887606A>T	ENSP00000256857:p.Met37Leu		P07491|P81553|Q14454|Q53YA0|Q9BSY7	Missense_Mutation	SNP	pfam_Bombesin	p.M37L	ENST00000256857.2	37	c.109	CCDS11971.1	18	.	.	.	.	.	.	.	.	.	.	A	18.97	3.736620	0.69304	.	.	ENSG00000134443	ENST00000256857;ENST00000529320;ENST00000420468	T;T;T	0.29397	1.57;1.61;1.58	4.02	4.02	0.46733	.	0.175446	0.38326	N	0.001733	T	0.37598	0.1009	L	0.32530	0.975	0.27009	N	0.964737	P;P;P	0.51147	0.942;0.696;0.798	D;P;P	0.67231	0.95;0.746;0.817	T	0.09378	-1.0677	10	0.54805	T	0.06	-15.6502	6.0251	0.19650	0.8852:0.0:0.1148:0.0	.	37;37;37	P07492-3;P07492;P07492-2	.;GRP_HUMAN;.	L	37	ENSP00000256857:M37L;ENSP00000434101:M37L;ENSP00000389696:M37L	ENSP00000256857:M37L	M	+	1	0	GRP	55038586	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.613000	0.46351	1.685000	0.51034	0.449000	0.29647	ATG	GRP	-	NULL		0.736	GRP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRP	HGNC	protein_coding	OTTHUMT00000256131.2	A	NM_002091		56887606	+1	no_errors	ENST00000256857	ensembl	human	known	70_37	missense	SNP	1.000	T
GSDMC	56169	genome.wustl.edu	37	8	130760789	130760789	+	Silent	SNP	G	G	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr8:130760789G>C	ENST00000276708.4	-	14	2366	c.1485C>G	c.(1483-1485)ctC>ctG	p.L495L		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	495						cytoplasm (GO:0005737)|microtubule organizing center (GO:0005815)|mitochondrion (GO:0005739)				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						GAGTCCCATAGAGGGCAGACA	0.592																																																	0													128.0	119.0	122.0					8																	130760789		2203	4300	6503	SO:0001819	synonymous_variant	56169			AB042405	CCDS6360.1	8q24.21	2014-05-14	2008-07-31	2008-07-31	ENSG00000147697	ENSG00000147697			7151	protein-coding gene	gene with protein product		608384	"""melanoma-derived leucine zipper, extra-nuclear factor"""	MLZE		17350798	Standard	NM_031415		Approved		uc003ysr.3	Q9BYG8	OTTHUMG00000164851	ENST00000276708.4:c.1485C>G	8.37:g.130760789G>C			Q5XKF3|Q6P494	Silent	SNP	pfam_Gasdermin	p.L495	ENST00000276708.4	37	c.1485	CCDS6360.1	8																																																																																			GSDMC	-	NULL		0.592	GSDMC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSDMC	HGNC	protein_coding	OTTHUMT00000380586.1	G			130760789	-1	no_errors	ENST00000276708	ensembl	human	known	70_37	silent	SNP	0.504	C
NARFL	64428	genome.wustl.edu	37	16	784556	784556	+	Intron	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr16:784556C>T	ENST00000251588.2	-	5	591				NARFL_ENST00000568545.1_Intron|NARFL_ENST00000540986.1_Intron|NARFL_ENST00000562862.1_5'Flank|NARFL_ENST00000301694.5_Intron|HAGHL_ENST00000569604.1_3'UTR	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like						hematopoietic progenitor cell differentiation (GO:0002244)|iron-sulfur cluster assembly (GO:0016226)|oxygen homeostasis (GO:0032364)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)	4 iron, 4 sulfur cluster binding (GO:0051539)|metal ion binding (GO:0046872)			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				GCGCGTGGCTCCCACGGGAGG	0.622																																																	0																																										SO:0001627	intron_variant	84264			AY129231	CCDS10425.1	16p13.3	2009-12-17			ENSG00000103245	ENSG00000103245			14179	protein-coding gene	gene with protein product	"""iron-only hydrogenase-like protein 1"""	611118				16956324	Standard	NM_022493		Approved	FLJ21988, PRN, HPRN, IOP1	uc002cjr.3	Q9H6Q4	OTTHUMG00000122093	ENST00000251588.2:c.574+180G>A	16.37:g.784556C>T			A1L385|B3KTJ3|Q53GC6|Q96S10|Q9H6J8	RNA	SNP	-	NULL	ENST00000251588.2	37	NULL	CCDS10425.1	16																																																																																			HAGHL	-	-		0.622	NARFL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HAGHL	HGNC	protein_coding	OTTHUMT00000242855.1	C	NM_022493		784556	+1	no_errors	ENST00000569604	ensembl	human	putative	70_37	rna	SNP	0.000	T
HCN2	610	genome.wustl.edu	37	19	615961	615961	+	Silent	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:615961G>A	ENST00000251287.2	+	8	2210	c.2157G>A	c.(2155-2157)ccG>ccA	p.P719P	AC005559.2_ENST00000591847.1_RNA	NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	719	Pro-rich.				cell-cell signaling (GO:0007267)|cellular response to cAMP (GO:0071320)|cellular response to cGMP (GO:0071321)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	cAMP binding (GO:0030552)|identical protein binding (GO:0042802)|intracellular cAMP activated cation channel activity (GO:0005222)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		cgccgccgccgccgccgcAGG	0.731																																					Melanoma(145;1175 2427 8056 36306)												0													7.0	8.0	8.0					19																	615961		1806	3642	5448	SO:0001819	synonymous_variant	610			AF064877	CCDS12035.1	19p13	2011-07-05				ENSG00000099822		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4846	protein-coding gene	gene with protein product		602781		BCNG2		9405696, 9630217, 16382102	Standard	NM_001194		Approved	BCNG-2, HAC-1	uc002lpe.3	Q9UL51		ENST00000251287.2:c.2157G>A	19.37:g.615961G>A			O60742|O60743|O75267|Q9UBS2	Silent	SNP	pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG	p.P719	ENST00000251287.2	37	c.2157	CCDS12035.1	19																																																																																			HCN2	-	NULL		0.731	HCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCN2	HGNC	protein_coding	OTTHUMT00000452100.1	G	NM_001194		615961	+1	no_errors	ENST00000251287	ensembl	human	known	70_37	silent	SNP	0.732	A
HDHD1	8226	genome.wustl.edu	37	X	6975800	6975800	+	Intron	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chrX:6975800G>A	ENST00000381077.5	-	4	587				HDHD1_ENST00000424830.2_Intron|HDHD1_ENST00000540122.1_Missense_Mutation_p.S192L|HDHD1_ENST00000412827.2_Intron	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1						nucleotide metabolic process (GO:0009117)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)			breast(2)|large_intestine(1)|lung(3)	6						GAGGAGCGCTGAGAAGGGATC	0.572																																																	0																																										SO:0001627	intron_variant	8226			M86934	CCDS48075.1, CCDS48076.1, CCDS55366.1, CCDS55367.1	Xp22.32	2010-07-21	2010-07-21	2010-07-21	ENSG00000130021	ENSG00000130021			16818	protein-coding gene	gene with protein product		306480	"""family with sequence similarity 16, member A, X-linked"", ""haloacid dehalogenase-like hydrolase domain containing 1A"""	FAM16AX, HDHD1A		1734713, 1284467	Standard	NM_012080		Approved	DXF68S1E, GS1	uc011mhm.1	Q08623	OTTHUMG00000021101	ENST00000381077.5:c.511-7287C>T	X.37:g.6975800G>A			B2R7X6|B4DV93|B7Z6Q3|E9PAV8|F5GWZ2|Q53F84|Q96EB8	Missense_Mutation	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom	p.S192L	ENST00000381077.5	37	c.575	CCDS48075.1	X	.	.	.	.	.	.	.	.	.	.	G	3.745	-0.052828	0.07362	.	.	ENSG00000130021	ENST00000540122	T	0.32515	1.45	1.41	0.524	0.17066	.	.	.	.	.	T	0.15305	0.0369	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.28964	-1.0027	7	.	.	.	.	3.5427	0.07818	0.2703:0.0:0.7297:0.0	.	192	Q08623-3	.	L	192	ENSP00000441208:S192L	.	S	-	2	0	HDHD1	6985800	0.000000	0.05858	0.001000	0.08648	0.044000	0.14063	0.404000	0.20999	0.109000	0.17891	-0.198000	0.12761	TCA	HDHD1	-	NULL		0.572	HDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDHD1	HGNC	protein_coding	OTTHUMT00000055683.2	G	NM_012080		6975800	-1	no_errors	ENST00000540122	ensembl	human	known	70_37	missense	SNP	0.001	A
HLA-C	3107	genome.wustl.edu	37	6	31239093	31239093	+	Missense_Mutation	SNP	C	C	G	rs45619135		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:31239093C>G	ENST00000376228.5	-	3	390	c.376G>C	c.(376-378)Gac>Cac	p.D126H	HLA-C_ENST00000383329.3_Missense_Mutation_p.D126H	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	126	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GGCCCCAGGTCGCAGCCAGAC	0.726																																																	0													24.0	21.0	22.0					6																	31239093		2159	4184	6343	SO:0001583	missense	3107			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4933	protein-coding gene	gene with protein product		142840	"""psoriasis susceptibility 1"""	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.376G>C	6.37:g.31239093C>G	ENSP00000365402:p.Asp126His		O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.D163H	ENST00000376228.5	37	c.487	CCDS34393.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	5.691|5.691	0.312086|0.312086	0.10789|0.10789	.|.	.|.	ENSG00000204525|ENSG00000204525	ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307|ENST00000415537	T;T|.	0.01068|.	5.38;5.38|.	2.81|2.81	-1.58|-1.58	0.08479|0.08479	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);|.	1.211120|.	0.06714|.	U|.	0.773682|.	T|T	0.50582|0.50582	0.1624|0.1624	H|H	0.96142|0.96142	3.775|3.775	0.09310|0.09310	N|N	1|1	B;D;B;B;B|.	0.89917|.	0.036;1.0;0.004;0.004;0.004|.	B;D;B;B;B|.	0.97110|.	0.07;1.0;0.03;0.03;0.018|.	T|T	0.53136|0.53136	-0.8481|-0.8481	10|6	0.87932|0.87932	D|D	0|0	.|.	2.694|2.694	0.05129|0.05129	0.3104:0.4365:0.1519:0.1012|0.3104:0.4365:0.1519:0.1012	.|.	126;101;126;126;126|.	A2AEA4;Q92671;A6H578;A2AEA2;P10321|.	.;.;.;.;1C07_HUMAN|.	H|P	126;126;126;163|125	ENSP00000365402:D126H;ENSP00000372819:D126H|.	ENSP00000365402:D126H|ENSP00000365412:R120P	D|R	-|-	1|2	0|0	HLA-C|HLA-C	31347072|31347072	0.018000|0.018000	0.18449|0.18449	0.003000|0.003000	0.11579|0.11579	0.003000|0.003000	0.03518|0.03518	-0.579000|-0.579000	0.05834|0.05834	-0.383000|-0.383000	0.07858|0.07858	-0.708000|-0.708000	0.03648|0.03648	GAC|CGA	HLA-C	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2		0.726	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-C	HGNC	protein_coding	OTTHUMT00000076281.3	C	NM_002117		31239093	-1	no_errors	ENST00000539307	ensembl	human	known	70_37	missense	SNP	0.193	G
HMCN1	83872	genome.wustl.edu	37	1	185987424	185987424	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:185987424C>T	ENST00000271588.4	+	34	5639	c.5410C>T	c.(5410-5412)Cgg>Tgg	p.R1804W	HMCN1_ENST00000367492.2_Missense_Mutation_p.R1804W	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1804	Ig-like C2-type 15.				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						AGGCCTTTATCGGTGCATGGC	0.418																																																	0													143.0	142.0	142.0					1																	185987424		2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.5410C>T	1.37:g.185987424C>T	ENSP00000271588:p.Arg1804Trp		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.R1804W	ENST00000271588.4	37	c.5410	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	c	19.58	3.854092	0.71719	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.78003	-1.14;-1.14	5.89	3.0	0.34707	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.443130	0.26293	N	0.025210	T	0.75852	0.3906	L	0.31120	0.905	0.22896	N	0.998592	D	0.76494	0.999	P	0.59761	0.863	T	0.66044	-0.6021	10	0.62326	D	0.03	.	7.8733	0.29578	0.2391:0.6412:0.0:0.1197	.	1804	Q96RW7	HMCN1_HUMAN	W	1804	ENSP00000271588:R1804W;ENSP00000356462:R1804W	ENSP00000271588:R1804W	R	+	1	2	HMCN1	184254047	0.998000	0.40836	0.979000	0.43373	0.800000	0.45204	3.002000	0.49496	0.394000	0.25230	-0.926000	0.02714	CGG	HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.418	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	C	NM_031935		185987424	+1	no_errors	ENST00000271588	ensembl	human	known	70_37	missense	SNP	0.998	T
HLX	3142	genome.wustl.edu	37	1	221053615	221053615	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:221053615C>T	ENST00000366903.6	+	1	1917	c.416C>T	c.(415-417)cCg>cTg	p.P139L	HLA-AS1_ENST00000552026.1_RNA|HLX_ENST00000549319.1_5'Flank	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	139	Pro-rich.				cell differentiation (GO:0030154)|embryonic digestive tract morphogenesis (GO:0048557)|enteric nervous system development (GO:0048484)|liver development (GO:0001889)|multicellular organismal development (GO:0007275)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|positive regulation of cell proliferation (GO:0008284)|positive regulation of organ growth (GO:0046622)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		caacagcCTCCGCCTCCGCCC	0.711																																																	0													14.0	21.0	18.0					1																	221053615		2184	4271	6455	SO:0001583	missense	3142			BC033808	CCDS1527.1	1q41	2011-06-20	2007-07-26	2007-07-26	ENSG00000136630	ENSG00000136630		"""Homeoboxes / ANTP class : NKL subclass"""	4978	protein-coding gene	gene with protein product		142995	"""H2.0 (Drosophila)-like homeo box 1"", ""H2.0-like homeobox 1 (Drosophila)"", ""H2.0-like homeobox 1"""	HLX1		1676597, 7806220	Standard	NM_021958		Approved	HB24	uc001hmv.4	Q14774	OTTHUMG00000037352	ENST00000366903.6:c.416C>T	1.37:g.221053615C>T	ENSP00000355870:p.Pro139Leu		B2R8A8|Q15988|Q59HE7|Q9NZ75	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.P139L	ENST00000366903.6	37	c.416	CCDS1527.1	1	.	.	.	.	.	.	.	.	.	.	C	12.49	1.953396	0.34471	.	.	ENSG00000136630	ENST00000366903	T	0.28895	1.59	4.25	3.34	0.38264	.	0.111474	0.37136	N	0.002230	T	0.10551	0.0258	N	0.08118	0	0.22112	N	0.999358	P	0.40083	0.702	B	0.30495	0.116	T	0.20638	-1.0269	10	0.10377	T	0.69	-10.5362	7.9055	0.29759	0.0:0.7456:0.1621:0.0922	.	139	Q14774	HLX_HUMAN	L	139	ENSP00000355870:P139L	ENSP00000355870:P139L	P	+	2	0	HLX	219120238	0.001000	0.12720	0.023000	0.16930	0.054000	0.15201	0.484000	0.22308	1.011000	0.39340	-0.191000	0.12829	CCG	HLX	-	NULL		0.711	HLX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLX	HGNC	protein_coding	OTTHUMT00000090902.3	C	NM_021958		221053615	+1	no_errors	ENST00000366903	ensembl	human	known	70_37	missense	SNP	0.048	T
HNRNPL	3191	genome.wustl.edu	37	19	39334736	39334736	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:39334736G>A	ENST00000221419.5	-	5	1085	c.719C>T	c.(718-720)tCa>tTa	p.S240L	HNRNPL_ENST00000600873.1_Missense_Mutation_p.S107L|AC008982.2_ENST00000600473.1_RNA	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	240	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			ACTTTGAACTGAGTCAAATGT	0.488																																																	0													87.0	80.0	82.0					19																	39334736		2203	4300	6503	SO:0001583	missense	3191			X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.719C>T	19.37:g.39334736G>A	ENSP00000221419:p.Ser240Leu		A6ND69|A6NIT8|Q9H3P3	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.S240L	ENST00000221419.5	37	c.719	CCDS33015.1	19	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767976	0.69878	.	.	ENSG00000104824	ENST00000221419;ENST00000388749;ENST00000388750;ENST00000423415;ENST00000536292	.	.	.	5.71	5.71	0.89125	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	1.239250	0.06623	N	0.757833	T	0.72293	0.3442	M	0.62154	1.92	0.80722	D	1	B	0.21452	0.056	B	0.26770	0.073	T	0.58092	-0.7697	9	0.66056	D	0.02	.	18.625	0.91334	0.0:0.0:1.0:0.0	.	240	P14866	HNRPL_HUMAN	L	240;107;107;107;168	.	ENSP00000221419:S240L	S	-	2	0	HNRNPL	44026576	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	9.772000	0.98984	2.694000	0.91930	0.557000	0.71058	TCA	HNRNPL	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB		0.488	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HNRNPL	HGNC	protein_coding	OTTHUMT00000462670.1	G			39334736	-1	no_errors	ENST00000221419	ensembl	human	known	70_37	missense	SNP	1.000	A
HOXD4	3233	genome.wustl.edu	37	2	177017452	177017452	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr2:177017452C>T	ENST00000306324.3	+	2	962	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	MIR10B_ENST00000385011.1_RNA|HOXD3_ENST00000468418.3_5'UTR	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	184					multicellular organismal development (GO:0007275)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		AAGGCGCCGTCGGATTGAAAT	0.522																																																	0													74.0	76.0	75.0					2																	177017452		2203	4300	6503	SO:0001583	missense	3233				CCDS2269.1	2q31.1	2011-06-20	2005-12-22		ENSG00000170166	ENSG00000170166		"""Homeoboxes / ANTP class : HOXL subclass"""	5138	protein-coding gene	gene with protein product		142981	"""homeo box D4"""	HOX4B, HOX4		1973146, 1358459	Standard	NM_014621		Approved		uc002uks.3	P09016	OTTHUMG00000132515	ENST00000306324.3:c.550C>T	2.37:g.177017452C>T	ENSP00000302548:p.Arg184Trp		B2R9R3|Q96AU0	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia,pfscan_Homeodomain	p.R184W	ENST00000306324.3	37	c.550	CCDS2269.1	2	.	.	.	.	.	.	.	.	.	.	C	19.78	3.890933	0.72524	.	.	ENSG00000170166	ENST00000306324	D	0.97505	-4.41	5.38	4.48	0.54585	Homeobox, eukaryotic (1);Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.99284	0.9750	H	0.99877	4.88	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98147	1.0439	10	0.87932	D	0	.	15.1985	0.73116	0.142:0.858:0.0:0.0	.	184	P09016	HXD4_HUMAN	W	184	ENSP00000302548:R184W	ENSP00000302548:R184W	R	+	1	2	HOXD4	176725698	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.968000	0.70413	1.221000	0.43506	0.643000	0.83706	CGG	HOXD4	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Homeobox_metazoa,pfscan_Homeodomain		0.522	HOXD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXD4	HGNC	protein_coding	OTTHUMT00000255697.2	C			177017452	+1	no_errors	ENST00000306324	ensembl	human	known	70_37	missense	SNP	1.000	T
HP	3240	genome.wustl.edu	37	16	72090480	72090480	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr16:72090480C>T	ENST00000355906.5	+	3	198	c.140C>T	c.(139-141)tCg>tTg	p.S47L	HP_ENST00000569639.1_Intron|HP_ENST00000357763.4_Missense_Mutation_p.S47L|HPR_ENST00000356967.5_Intron|HP_ENST00000398131.2_Missense_Mutation_p.S47L|HP_ENST00000570083.1_Intron|HP_ENST00000565574.1_Missense_Mutation_p.S47L|HP_ENST00000562526.1_Intron	NM_005143.3	NP_005134.1	P00738	HPT_HUMAN	haptoglobin	47	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.		Missing (in allele HP*1F and allele HP*1S). {ECO:0000269|PubMed:6330675, ECO:0000269|PubMed:6546723}.		acute-phase response (GO:0006953)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|immune system process (GO:0002376)|negative regulation of hydrogen peroxide catabolic process (GO:2000296)|negative regulation of oxidoreductase activity (GO:0051354)|positive regulation of cell death (GO:0010942)|response to hydrogen peroxide (GO:0042542)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|haptoglobin-hemoglobin complex (GO:0031838)	antioxidant activity (GO:0016209)|hemoglobin binding (GO:0030492)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		GTGGAGCACTCGGTTCGCTAC	0.507																																																	0													5.0	5.0	5.0					16																	72090480		1714	3873	5587	SO:0001583	missense	3240				CCDS45524.1, CCDS45525.1	16q22.2	2012-10-02			ENSG00000257017	ENSG00000257017			5141	protein-coding gene	gene with protein product		140100				11109501, 9352226	Standard	NM_005143		Approved		uc002fbr.4	P00738		ENST00000355906.5:c.140C>T	16.37:g.72090480C>T	ENSP00000348170:p.Ser47Leu		B0AZL5|P00737|Q0VAC4|Q0VAC5|Q2PP15|Q3B7J0|Q6LBY9|Q9UC67	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Complement_control_module,smart_Peptidase_S1_S6,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.S47L	ENST00000355906.5	37	c.140	CCDS45524.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	3.541|3.541	-0.093683|-0.093683	0.07053|0.07053	.|.	.|.	ENSG00000257017|ENSG00000257017	ENST00000405951|ENST00000355906;ENST00000398131;ENST00000357763	.|T;T	.|0.48522	.|0.81;0.81	4.84|4.84	-9.69|-9.69	0.00524|0.00524	.|Complement control module (2);Sushi/SCR/CCP (2);	.|.	.|.	.|.	.|.	T|T	0.26304|0.26304	0.0642|0.0642	N|N	0.25647|0.25647	0.755|0.755	0.09310|0.09310	N|N	1|1	.|B;B	.|0.02656	.|0.0;0.0	.|B;B	.|0.01281	.|0.0;0.0	T|T	0.47548|0.47548	-0.9109|-0.9109	6|9	0.87932|0.02654	D|T	0|1	.|.	15.5347|15.5347	0.75993|0.75993	0.1076:0.7369:0.0:0.1555|0.1076:0.7369:0.0:0.1555	.|.	.|47;47	.|Q0VAC5;P00738	.|.;HPT_HUMAN	W|L	24|47;47;82	.|ENSP00000348170:S47L;ENSP00000381199:S47L	ENSP00000386047:R24W|ENSP00000348170:S47L	R|S	+|+	1|2	2|0	HP|HP	70647981|70647981	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.077000|0.077000	0.17291|0.17291	-2.790000|-2.790000	0.00767|0.00767	-2.314000|-2.314000	0.00647|0.00647	-1.106000|-1.106000	0.02097|0.02097	CGG|TCG	HP	-	superfamily_Complement_control_module,pfscan_Sushi_SCR_CCP		0.507	HP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HP	HGNC	protein_coding	OTTHUMT00000421680.1	C	NM_005143		72090480	+1	no_errors	ENST00000355906	ensembl	human	known	70_37	missense	SNP	0.000	T
HPS3	84343	genome.wustl.edu	37	3	148863259	148863259	+	Silent	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:148863259G>A	ENST00000296051.2	+	5	1229	c.1089G>A	c.(1087-1089)ttG>ttA	p.L363L	HPS3_ENST00000460120.1_Silent_p.L198L	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	363					organelle organization (GO:0006996)|pigmentation (GO:0043473)	BLOC-2 complex (GO:0031084)				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CTGTTGAATTGATGTCAGTCT	0.418									Hermansky-Pudlak syndrome																																								0													166.0	166.0	166.0					3																	148863259		2203	4300	6503	SO:0001819	synonymous_variant	84343	Familial Cancer Database	HPS, HPS1-8	AY033141	CCDS3140.1	3q24	2014-06-18			ENSG00000163755	ENSG00000163755			15597	protein-coding gene	gene with protein product		606118				11455388	Standard	NM_032383		Approved	SUTAL	uc003ewu.1	Q969F9	OTTHUMG00000159548	ENST00000296051.2:c.1089G>A	3.37:g.148863259G>A			A8K6G6|Q8WTV6|Q96AP1|Q96MR3|Q9H608	Silent	SNP	pirsf_BLOC-2_complex_Hps3_subunit	p.L363	ENST00000296051.2	37	c.1089	CCDS3140.1	3																																																																																			HPS3	-	pirsf_BLOC-2_complex_Hps3_subunit		0.418	HPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPS3	HGNC	protein_coding	OTTHUMT00000356151.1	G	NM_032383		148863259	+1	no_errors	ENST00000296051	ensembl	human	known	70_37	silent	SNP	0.017	A
HPX	3263	genome.wustl.edu	37	11	6452912	6452912	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr11:6452912G>A	ENST00000265983.3	-	9	1188	c.1088C>T	c.(1087-1089)gCc>gTc	p.A363V		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	363					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GCAGATAAAGGCCGCATCCAC	0.557																																																	0													74.0	76.0	76.0					11																	6452912		2201	4296	6497	SO:0001583	missense	3263			J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.1088C>T	11.37:g.6452912G>A	ENSP00000265983:p.Ala363Val		B2R957	Missense_Mutation	SNP	pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Hemopexin_chordata	p.A363V	ENST00000265983.3	37	c.1088	CCDS7763.1	11	.	.	.	.	.	.	.	.	.	.	G	20.5	4.007569	0.75046	.	.	ENSG00000110169	ENST00000265983	T	0.16597	2.33	5.62	5.62	0.85841	Hemopexin/matrixin (2);	0.137928	0.64402	D	0.000003	T	0.30541	0.0768	M	0.72894	2.215	0.58432	D	0.999998	D	0.76494	0.999	P	0.48488	0.579	T	0.05289	-1.0894	10	0.87932	D	0	-9.0908	17.1339	0.86734	0.0:0.0:1.0:0.0	.	363	P02790	HEMO_HUMAN	V	363	ENSP00000265983:A363V	ENSP00000265983:A363V	A	-	2	0	HPX	6409488	1.000000	0.71417	1.000000	0.80357	0.331000	0.28603	6.271000	0.72569	2.656000	0.90262	0.561000	0.74099	GCC	HPX	-	superfamily_Hemopexin/matrixin,pirsf_Hemopexin_chordata		0.557	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPX	HGNC	protein_coding	OTTHUMT00000257256.1	G	NM_000613		6452912	-1	no_errors	ENST00000265983	ensembl	human	known	70_37	missense	SNP	1.000	A
HRNR	388697	genome.wustl.edu	37	1	152186490	152186490	+	Missense_Mutation	SNP	C	C	T	rs201463788	byFrequency	TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:152186490C>T	ENST00000368801.2	-	3	7690	c.7615G>A	c.(7615-7617)Ggc>Agc	p.G2539S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2539				G -> S (in Ref. 1; BAC57496). {ECO:0000305}.	establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACGCTGGCCGTGGCCTGGA	0.632													C|||	888	0.177316	0.1203	0.2147	5008	,	,		40970	0.2679		0.0934	False		,,,				2504	0.2209																0													1.0	1.0	1.0					1																	152186490		2	12	14	SO:0001583	missense	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.7615G>A	1.37:g.152186490C>T	ENSP00000357791:p.Gly2539Ser		Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.G2539S	ENST00000368801.2	37	c.7615	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	8.448	0.852355	0.17106	.	.	ENSG00000197915	ENST00000368801	T	0.05081	3.5	3.1	-1.4	0.08968	.	.	.	.	.	T	0.00967	0.0032	L	0.40543	1.245	0.80722	P	0.0	P	0.39181	0.663	B	0.20184	0.028	T	0.49818	-0.8899	8	0.11794	T	0.64	.	7.0816	0.25234	0.0:0.4912:0.0:0.5088	rs7514457;rs9661330	2539	Q86YZ3	HORN_HUMAN	S	2539	ENSP00000357791:G2539S	ENSP00000357791:G2539S	G	-	1	0	HRNR	150453114	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.984000	0.03755	-0.477000	0.06832	0.603000	0.83216	GGC	HRNR	-	NULL		0.632	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	C	XM_373868		152186490	-1	no_errors	ENST00000368801	ensembl	human	known	70_37	missense	SNP	0.000	T
IARS2	55699	genome.wustl.edu	37	1	220311206	220311206	+	Intron	SNP	G	G	A	rs201346850	byFrequency	TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:220311206G>A	ENST00000302637.5	+	17	2153				IARS2_ENST00000366922.1_Intron|snoU13_ENST00000459443.1_RNA	NM_018060.3	NP_060530.3	Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial						gene expression (GO:0010467)|isoleucyl-tRNA aminoacylation (GO:0006428)|tRNA aminoacylation for protein translation (GO:0006418)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	aminoacyl-tRNA editing activity (GO:0002161)|ATP binding (GO:0005524)|isoleucine-tRNA ligase activity (GO:0004822)			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	ACATTTGTTCGGCTAATTGGA	0.368													G|||	4	0.000798722	0.0	0.0014	5008	,	,		18856	0.0		0.001	False		,,,				2504	0.002																0																																										SO:0001627	intron_variant	55699			AK022665	CCDS1523.1	1q41	2011-07-01	2007-02-26		ENSG00000067704	ENSG00000067704	6.1.1.5	"""Aminoacyl tRNA synthetases / Class I"""	29685	protein-coding gene	gene with protein product	"""isoleucine tRNA ligase 2, mitochondrial"""	612801					Standard	NM_018060		Approved	FLJ10326	uc001hmc.3	Q9NSE4	OTTHUMG00000037287	ENST00000302637.5:c.2050-54G>A	1.37:g.220311206G>A			B2RPG8|Q1M2P9|Q6PI85|Q7L439|Q86WU9|Q96D91|Q9H9Q8|Q9NW42	RNA	SNP	-	NULL	ENST00000302637.5	37	NULL	CCDS1523.1	1																																																																																			IARS2	-	-		0.368	IARS2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IARS2	HGNC	protein_coding		G	NM_018060		220311206	+1	no_errors	ENST00000488777	ensembl	human	known	70_37	rna	SNP	0.001	A
IBTK	25998	genome.wustl.edu	37	6	82912252	82912252	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:82912252C>T	ENST00000306270.7	-	18	3271	c.2722G>A	c.(2722-2724)Gaa>Aaa	p.E908K	IBTK_ENST00000510291.1_Missense_Mutation_p.E908K|IBTK_ENST00000503631.1_Missense_Mutation_p.E707K	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	908					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TACCTTGCTTCAAGTAAAGCT	0.323																																																	0													128.0	133.0	132.0					6																	82912252		2203	4300	6503	SO:0001583	missense	25998			AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.2722G>A	6.37:g.82912252C>T	ENSP00000305721:p.Glu908Lys		Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	pfam_Reg_chr_condens,pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens	p.E908K	ENST00000306270.7	37	c.2722	CCDS34490.1	6	.	.	.	.	.	.	.	.	.	.	C	29.7	5.024756	0.93518	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.33865	1.75;1.39;1.76	5.56	5.56	0.83823	.	0.168937	0.52532	D	0.000069	T	0.55924	0.1951	M	0.80183	2.485	0.80722	D	1	D;D;D;D	0.76494	0.997;0.998;0.999;0.999	D;P;D;P	0.69654	0.909;0.853;0.965;0.892	T	0.58918	-0.7551	10	0.54805	T	0.06	-24.6337	17.7095	0.88318	0.0:1.0:0.0:0.0	.	707;908;908;908	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	K	908;707;908	ENSP00000305721:E908K;ENSP00000422762:E707K;ENSP00000426405:E908K	ENSP00000305721:E908K	E	-	1	0	IBTK	82968971	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	7.431000	0.80335	2.604000	0.88044	0.585000	0.79938	GAA	IBTK	-	NULL		0.323	IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IBTK	HGNC	protein_coding	OTTHUMT00000041337.2	C	NM_015525		82912252	-1	no_errors	ENST00000306270	ensembl	human	known	70_37	missense	SNP	1.000	T
IGF1R	3480	genome.wustl.edu	37	15	99467897	99467897	+	Silent	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr15:99467897C>T	ENST00000268035.6	+	13	3377	c.2766C>T	c.(2764-2766)ttC>ttT	p.F922F	IGF1R_ENST00000558762.1_Silent_p.F922F	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	922	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	CTGTGTTCTTCTATGTCCAGG	0.547																																																	0													109.0	92.0	98.0					15																	99467897		2197	4297	6494	SO:0001819	synonymous_variant	3480			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.2766C>T	15.37:g.99467897C>T			B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.F922	ENST00000268035.6	37	c.2766	CCDS10378.1	15																																																																																			IGF1R	-	pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.547	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IGF1R	HGNC	protein_coding	OTTHUMT00000313537.2	C	NM_000875		99467897	+1	no_errors	ENST00000268035	ensembl	human	known	70_37	silent	SNP	1.000	T
IGSF9B	22997	genome.wustl.edu	37	11	133805598	133805598	+	Missense_Mutation	SNP	T	T	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr11:133805598T>C	ENST00000321016.8	-	7	1111	c.881A>G	c.(880-882)aAg>aGg	p.K294R	IGSF9B_ENST00000533871.2_Missense_Mutation_p.K294R			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	294	Ig-like 3.				homophilic cell adhesion (GO:0007156)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)	dendrite (GO:0030425)|inhibitory synapse (GO:0060077)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GTCCTCCGGCTTCACCCGGAA	0.647																																																	0													26.0	31.0	29.0					11																	133805598		2047	4184	6231	SO:0001583	missense	22997			AK097578	CCDS61010.1	11q25	2013-02-11	2005-10-12	2005-11-20				"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	32326	protein-coding gene	gene with protein product		613773					Standard	NM_001277285		Approved	KIAA1030	uc031qfh.1	Q9UPX0		ENST00000321016.8:c.881A>G	11.37:g.133805598T>C	ENSP00000317980:p.Lys294Arg		G5EA26	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.K294R	ENST00000321016.8	37	c.881		11	.	.	.	.	.	.	.	.	.	.	T	17.94	3.511237	0.64522	.	.	ENSG00000080854	ENST00000321016;ENST00000533871;ENST00000527648	T;T;T	0.26223	1.75;1.75;1.75	5.48	5.48	0.80851	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Fibronectin, type III (2);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.16471	0.0396	N	0.02665	-0.54	0.53688	D	0.999974	B	0.29188	0.236	B	0.40982	0.345	T	0.34900	-0.9810	9	0.23891	T	0.37	.	15.5681	0.76309	0.0:0.0:0.0:1.0	.	294	Q9UPX0	TUTLB_HUMAN	R	294;136;294	ENSP00000317980:K294R;ENSP00000436552:K136R;ENSP00000436576:K294R	ENSP00000317980:K294R	K	-	2	0	IGSF9B	133310808	1.000000	0.71417	1.000000	0.80357	0.737000	0.42083	3.978000	0.56881	2.071000	0.62044	0.459000	0.35465	AAG	IGSF9B	-	pfam_Ig_I-set,pfam_Ig_V-set,smart_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.647	IGSF9B-201	KNOWN	basic|appris_candidate	protein_coding	IGSF9B	HGNC	protein_coding		T	XM_290502		133805598	-1	no_errors	ENST00000321016	ensembl	human	known	70_37	missense	SNP	1.000	C
IL23A	51561	genome.wustl.edu	37	12	56733530	56733530	+	Missense_Mutation	SNP	C	C	T	rs201997002		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr12:56733530C>T	ENST00000228534.4	+	3	483	c.317C>T	c.(316-318)tCg>tTg	p.S106L	STAT2_ENST00000556539.1_5'Flank	NM_016584.2	NP_057668.1	Q9NPF7	IL23A_HUMAN	interleukin 23, alpha subunit p19	106					defense response to Gram-negative bacterium (GO:0050829)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|T cell proliferation (GO:0042098)|tissue remodeling (GO:0048771)	interleukin-23 complex (GO:0070743)				kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						CTGCTAGGATCGGATATTTTC	0.507																																																	0								C	LEU/SER	2,4404	4.2+/-10.8	0,2,2201	96.0	97.0	96.0		317	5.1	1.0	12		96	1,8599	1.2+/-3.3	0,1,4299	yes	missense	IL23A	NM_016584.2	145	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging	106/190	56733530	3,13003	2203	4300	6503	SO:0001583	missense	51561			AB030000	CCDS8916.1	12q13.13	2011-07-15				ENSG00000110944		"""Interleukins and interleukin receptors"""	15488	protein-coding gene	gene with protein product	"""interleukin-six, G-CSF related factor"""	605580				11114383	Standard	NM_016584		Approved	SGRF, IL23P19, IL-23, IL-23A, P19	uc001sla.3	Q9NPF7		ENST00000228534.4:c.317C>T	12.37:g.56733530C>T	ENSP00000228534:p.Ser106Leu		Q6NZ80|Q6NZ82|Q9H2A5	Missense_Mutation	SNP	pfam_IL6_MGF_GCSF,superfamily_4_helix_cytokine-like_core	p.S106L	ENST00000228534.4	37	c.317	CCDS8916.1	12	.	.	.	.	.	.	.	.	.	.	C	18.97	3.736212	0.69189	4.54E-4	1.16E-4	ENSG00000110944	ENST00000228534	T	0.30448	1.53	5.14	5.14	0.70334	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.000000	0.50627	D	0.000115	T	0.45955	0.1368	L	0.36672	1.1	0.41337	D	0.987272	D	0.89917	1.0	D	0.91635	0.999	T	0.40496	-0.9560	10	0.87932	D	0	-10.8538	14.8223	0.70082	0.0:1.0:0.0:0.0	.	106	Q9NPF7	IL23A_HUMAN	L	106	ENSP00000228534:S106L	ENSP00000228534:S106L	S	+	2	0	IL23A	55019797	1.000000	0.71417	0.999000	0.59377	0.753000	0.42808	3.616000	0.54174	2.779000	0.95612	0.563000	0.77884	TCG	IL23A	-	pfam_IL6_MGF_GCSF,superfamily_4_helix_cytokine-like_core		0.507	IL23A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IL23A	HGNC	protein_coding		C	NM_016584		56733530	+1	no_errors	ENST00000228534	ensembl	human	known	70_37	missense	SNP	0.999	T
IL23A	51561	genome.wustl.edu	37	12	56733801	56733801	+	Silent	SNP	C	C	G			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr12:56733801C>G	ENST00000228534.4	+	4	649	c.483C>G	c.(481-483)ctC>ctG	p.L161L	STAT2_ENST00000556539.1_5'Flank	NM_016584.2	NP_057668.1	Q9NPF7	IL23A_HUMAN	interleukin 23, alpha subunit p19	161					defense response to Gram-negative bacterium (GO:0050829)|defense response to virus (GO:0051607)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of interleukin-10 production (GO:0032693)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of natural killer cell proliferation (GO:0032819)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NK T cell activation (GO:0051135)|positive regulation of NK T cell proliferation (GO:0051142)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of T-helper 17 cell lineage commitment (GO:2000330)|positive regulation of T-helper 17 type immune response (GO:2000318)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat4 protein (GO:0042520)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|regulation of tyrosine phosphorylation of Stat1 protein (GO:0042510)|T cell proliferation (GO:0042098)|tissue remodeling (GO:0048771)	interleukin-23 complex (GO:0070743)				kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						GTCTCCTTCTCCGCTTCAAAA	0.587																																																	0													100.0	106.0	104.0					12																	56733801		2203	4300	6503	SO:0001819	synonymous_variant	51561			AB030000	CCDS8916.1	12q13.13	2011-07-15				ENSG00000110944		"""Interleukins and interleukin receptors"""	15488	protein-coding gene	gene with protein product	"""interleukin-six, G-CSF related factor"""	605580				11114383	Standard	NM_016584		Approved	SGRF, IL23P19, IL-23, IL-23A, P19	uc001sla.3	Q9NPF7		ENST00000228534.4:c.483C>G	12.37:g.56733801C>G			Q6NZ80|Q6NZ82|Q9H2A5	Silent	SNP	pfam_IL6_MGF_GCSF,superfamily_4_helix_cytokine-like_core	p.L161	ENST00000228534.4	37	c.483	CCDS8916.1	12																																																																																			IL23A	-	pfam_IL6_MGF_GCSF,superfamily_4_helix_cytokine-like_core		0.587	IL23A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	IL23A	HGNC	protein_coding		C	NM_016584		56733801	+1	no_errors	ENST00000228534	ensembl	human	known	70_37	silent	SNP	1.000	G
IL31RA	133396	genome.wustl.edu	37	5	55212857	55212857	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr5:55212857G>A	ENST00000447346.2	+	15	2269	c.2204G>A	c.(2203-2205)gGa>gAa	p.G735E	IL31RA_ENST00000354961.4_Intron|IL31RA_ENST00000359040.5_Intron|IL31RA_ENST00000396834.1_Intron|IL31RA_ENST00000490985.1_Missense_Mutation_p.G593E	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	703					cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|homeostatic process (GO:0042592)|JAK-STAT cascade (GO:0007259)|macrophage differentiation (GO:0030225)|MAPK cascade (GO:0000165)|monocyte differentiation (GO:0030224)|negative regulation of apoptotic process (GO:0043066)|negative regulation of macrophage activation (GO:0043031)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|cytokine receptor activity (GO:0004896)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TGTGAGGAAGGAGCCCCAAAT	0.473																																																	0													53.0	60.0	57.0					5																	55212857		2203	4300	6503	SO:0001583	missense	133396			AY499339	CCDS3970.2, CCDS56365.1, CCDS56366.1, CCDS56367.1, CCDS75244.1, CCDS75245.1	5q11.2	2013-02-11			ENSG00000164509	ENSG00000164509		"""Interleukins and interleukin receptors"", ""Fibronectin type III domain containing"""	18969	protein-coding gene	gene with protein product		609510				15184896, 11877449	Standard	NM_139017		Approved	CRL3, GLM-R, CRL, Glmr, IL-31RA	uc003jql.3	Q8NI17	OTTHUMG00000097045	ENST00000447346.2:c.2204G>A	5.37:g.55212857G>A	ENSP00000415900:p.Gly735Glu		A6NIF8|Q2TBA1|Q6EBC3|Q6EBC4|Q6EBC5|Q6EBC6|Q6UWL8|Q8WYJ0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.G735E	ENST00000447346.2	37	c.2204	CCDS3970.2	5	.	.	.	.	.	.	.	.	.	.	G	4.352	0.064882	0.08388	.	.	ENSG00000164509	ENST00000447346;ENST00000490985	T;T	0.41400	1.18;1.0	5.65	-2.25	0.06888	.	1.098820	0.06734	N	0.777191	T	0.29190	0.0726	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.25537	-1.0129	9	.	.	.	-0.0481	6.5188	0.22262	0.3421:0.2568:0.4011:0.0	.	735	Q8NI17-2	.	E	735;593	ENSP00000415900:G735E;ENSP00000427533:G593E	.	G	+	2	0	IL31RA	55248614	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.291000	0.08343	-0.459000	0.07013	-2.481000	0.00198	GGA	IL31RA	-	NULL		0.473	IL31RA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL31RA	HGNC	protein_coding	OTTHUMT00000214148.1	G	NM_139017		55212857	+1	no_errors	ENST00000447346	ensembl	human	known	70_37	missense	SNP	0.000	A
IL33	90865	genome.wustl.edu	37	9	6250569	6250569	+	Missense_Mutation	SNP	G	G	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr9:6250569G>C	ENST00000381434.3	+	2	200	c.187G>C	c.(187-189)Gaa>Caa	p.E63Q	IL33_ENST00000417746.2_Intron|IL33_ENST00000456383.2_Missense_Mutation_p.E63Q	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	63	Homeodomain-like HTH domain.				extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of immunoglobulin secretion (GO:0051025)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of T-helper 1 type immune response (GO:0002826)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-13 production (GO:0032736)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of interleukin-5 production (GO:0032754)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of macrophage activation (GO:0043032)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type 2 immune response (GO:0002830)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|nucleus (GO:0005634)	cytokine activity (GO:0005125)			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		CTTTAGGAGAGAAACCACCAA	0.423																																																	0													93.0	89.0	91.0					9																	6250569		2203	4300	6503	SO:0001583	missense	90865			AB024518	CCDS6468.1, CCDS56563.1, CCDS56564.1	9p24.1	2014-01-28	2006-11-20	2006-11-20	ENSG00000137033	ENSG00000137033		"""Interleukins and interleukin receptors"""	16028	protein-coding gene	gene with protein product	"""DVS27-related protein"", ""nuclear factor for high endothelial venules"", ""interleukin-1 family, member 11"""	608678	"""chromosome 9 open reading frame 26 (NF-HEV)"""	C9orf26		10566975, 12819012	Standard	NM_033439		Approved	DVS27, DKFZp586H0523, NF-HEV, IL1F11	uc003zjt.3	O95760	OTTHUMG00000019516	ENST00000381434.3:c.187G>C	9.37:g.6250569G>C	ENSP00000370842:p.Glu63Gln		B2R8L1|B4DJ35|B4E1Q9|D3DRI5|E7EAX4|Q2YEJ5	Missense_Mutation	SNP	NULL	p.E63Q	ENST00000381434.3	37	c.187	CCDS6468.1	9	.	.	.	.	.	.	.	.	.	.	G	15.43	2.829903	0.50845	.	.	ENSG00000137033	ENST00000456383;ENST00000381434	T;T	0.58940	0.3;0.3	4.41	-3.35	0.04928	.	0.870778	0.10049	N	0.722471	T	0.55832	0.1945	M	0.62723	1.935	0.09310	N	1	D;P	0.54047	0.964;0.904	P;P	0.50109	0.631;0.55	T	0.52624	-0.8551	10	0.62326	D	0.03	-1.6243	5.4228	0.16409	0.5184:0.0:0.3411:0.1405	.	63;63	B4E1Q9;O95760	.;IL33_HUMAN	Q	63	ENSP00000414238:E63Q;ENSP00000370842:E63Q	ENSP00000370842:E63Q	E	+	1	0	IL33	6240569	0.004000	0.15560	0.000000	0.03702	0.253000	0.25986	0.072000	0.14617	-0.698000	0.05085	-0.339000	0.08088	GAA	IL33	-	NULL		0.423	IL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL33	HGNC	protein_coding	OTTHUMT00000051655.1	G	NM_033439		6250569	+1	no_errors	ENST00000381434	ensembl	human	known	70_37	missense	SNP	0.001	C
IMPA2	3613	genome.wustl.edu	37	18	12008345	12008345	+	Intron	SNP	C	C	G			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr18:12008345C>G	ENST00000269159.3	+	3	472				IMPA2_ENST00000588927.1_Intron|IMPA2_ENST00000588752.1_Intron|IMPA2_ENST00000589238.1_Intron	NM_014214.2	NP_055029.1	O14732	IMPA2_HUMAN	inositol(myo)-1(or 4)-monophosphatase 2						inositol biosynthetic process (GO:0006021)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylinositol phosphorylation (GO:0046854)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	inositol monophosphate 1-phosphatase activity (GO:0008934)|inositol monophosphate 3-phosphatase activity (GO:0052832)|inositol monophosphate 4-phosphatase activity (GO:0052833)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)|stomach(2)|urinary_tract(1)	12					Lithium(DB01356)	TCCTTTTTCTCTAGTACACAT	0.498																																																	0													40.0	40.0	40.0					18																	12008345		876	1991	2867	SO:0001627	intron_variant	3613			AF014398	CCDS11855.1	18p11.2	2008-03-18			ENSG00000141401	ENSG00000141401	3.1.3.25		6051	protein-coding gene	gene with protein product		605922				9322233	Standard	NM_014214		Approved		uc002kqp.2	O14732	OTTHUMG00000131693	ENST00000269159.3:c.231-1537C>G	18.37:g.12008345C>G			B0YJ29|Q9UJT3	Missense_Mutation	SNP	pfam_Inositol_monophosphatase	p.L82V	ENST00000269159.3	37	c.244	CCDS11855.1	18	.	.	.	.	.	.	.	.	.	.	C	5.168	0.216483	0.09810	.	.	ENSG00000141401	ENST00000383376	.	.	.	1.47	1.47	0.22746	.	.	.	.	.	T	0.31827	0.0809	.	.	.	0.19775	N	0.999951	.	.	.	.	.	.	T	0.21518	-1.0243	5	0.30078	T	0.28	.	6.3814	0.21536	0.0:1.0:0.0:0.0	.	.	.	.	V	82	.	ENSP00000372867:L82V	L	+	1	2	IMPA2	11998345	0.002000	0.14202	0.005000	0.12908	0.020000	0.10135	0.239000	0.18023	1.129000	0.42072	0.563000	0.77884	CTA	IMPA2	-	NULL		0.498	IMPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IMPA2	HGNC	protein_coding	OTTHUMT00000254601.1	C			12008345	+1	no_errors	ENST00000383376	ensembl	human	known	70_37	missense	SNP	0.006	G
INTS10	55174	genome.wustl.edu	37	8	19681401	19681401	+	Missense_Mutation	SNP	G	G	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr8:19681401G>C	ENST00000397977.3	+	7	1080	c.682G>C	c.(682-684)Gat>Cat	p.D228H		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	228					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		GGATACATCTGATTTAATGTC	0.418																																																	0													103.0	94.0	97.0					8																	19681401		1844	4095	5939	SO:0001583	missense	55174			AK001431	CCDS6011.2	8p21.3	2006-04-26	2006-03-15	2006-03-15	ENSG00000104613	ENSG00000104613			25548	protein-coding gene	gene with protein product		611353	"""chromosome 8 open reading frame 35"""	C8orf35		16239144	Standard	XM_005273558		Approved	FLJ10569, INT10	uc003wzj.3	Q9NVR2	OTTHUMG00000131065	ENST00000397977.3:c.682G>C	8.37:g.19681401G>C	ENSP00000381064:p.Asp228His		Q6IA93|Q7L538|Q7L8C8|Q9H3W8	Missense_Mutation	SNP	NULL	p.D228H	ENST00000397977.3	37	c.682	CCDS6011.2	8	.	.	.	.	.	.	.	.	.	.	G	19.71	3.878704	0.72294	.	.	ENSG00000104613	ENST00000397977	.	.	.	5.6	5.6	0.85130	.	0.296480	0.37261	N	0.002172	T	0.46190	0.1380	N	0.22421	0.69	0.54753	D	0.999985	P	0.49447	0.924	P	0.44772	0.46	T	0.45411	-0.9263	9	0.46703	T	0.11	-29.431	18.1822	0.89782	0.0:0.0:1.0:0.0	.	228	Q9NVR2	INT10_HUMAN	H	228	.	ENSP00000381064:D228H	D	+	1	0	INTS10	19725681	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.071000	0.57556	2.645000	0.89757	0.655000	0.94253	GAT	INTS10	-	NULL		0.418	INTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS10	HGNC	protein_coding	OTTHUMT00000253724.2	G	NM_018142		19681401	+1	no_errors	ENST00000397977	ensembl	human	known	70_37	missense	SNP	1.000	C
IRAK2	3656	genome.wustl.edu	37	3	10251363	10251363	+	Frame_Shift_Del	DEL	C	C	-	rs200255937		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:10251363delC	ENST00000256458.4	+	4	605	c.515delC	c.(514-516)tcgfs	p.S173fs		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	173					activation of MAPK activity (GO:0000187)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						CTCCCCACTTCGTCTGATTCA	0.562																																																	0													114.0	116.0	115.0					3																	10251363		2203	4300	6503	SO:0001589	frameshift_variant	3656			AF026273	CCDS33697.1	3p25.2	2008-08-18			ENSG00000134070	ENSG00000134070			6113	protein-coding gene	gene with protein product		603304				9374458	Standard	XR_245126		Approved		uc003bve.1	O43187	OTTHUMG00000155358	ENST00000256458.4:c.515delC	3.37:g.10251363delC	ENSP00000256458:p.Ser173fs		B4DQZ6|Q08AG6|Q5K546	Frame_Shift_Del	DEL	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.S172fs	ENST00000256458.4	37	c.515	CCDS33697.1	3																																																																																			IRAK2	-	NULL		0.562	IRAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK2	HGNC	protein_coding	OTTHUMT00000339623.1	C			10251363	+1	no_errors	ENST00000256458	ensembl	human	known	70_37	frame_shift_del	DEL	0.013	-
ISG15	9636	genome.wustl.edu	37	1	949717	949717	+	Silent	SNP	C	C	T	rs376631917		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:949717C>T	ENST00000379389.4	+	2	508	c.357C>T	c.(355-357)gaC>gaT	p.D119D	RP11-54O7.11_ENST00000458555.1_RNA	NM_005101.3	NP_005092.1	P05161	ISG15_HUMAN	ISG15 ubiquitin-like modifier	119	Ubiquitin-like 2. {ECO:0000255|PROSITE- ProRule:PRU00214}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to bacterium (GO:0042742)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|modification-dependent protein catabolic process (GO:0019941)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral genome replication (GO:0045071)|positive regulation of erythrocyte differentiation (GO:0045648)|regulation of interferon-gamma production (GO:0032649)|response to type I interferon (GO:0034340)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular region (GO:0005576)	protein tag (GO:0031386)			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GTGTGCAGGACGACCTGTTCT	0.637																																																	0								C		0,4406		0,0,2203	72.0	72.0	72.0		357	-8.4	0.0	1		72	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ISG15	NM_005101.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		119/166	949717	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9636			BC009507	CCDS6.1	1p36.33	2008-02-05	2006-04-28	2006-04-28	ENSG00000187608	ENSG00000187608			4053	protein-coding gene	gene with protein product		147571	"""interferon, alpha-inducible protein (clone IFI-15K)"""	G1P2		3087979	Standard	NM_005101		Approved	IFI15, UCRP	uc001acj.4	P05161	OTTHUMG00000040777	ENST00000379389.4:c.357C>T	1.37:g.949717C>T			Q5SVA4|Q7Z2G2|Q96GF0	Silent	SNP	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr	p.D119	ENST00000379389.4	37	c.357	CCDS6.1	1																																																																																			ISG15	-	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr		0.637	ISG15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISG15	HGNC	protein_coding	OTTHUMT00000097989.1	C	NM_005101		949717	+1	no_errors	ENST00000379389	ensembl	human	known	70_37	silent	SNP	0.000	T
ISLR2	57611	genome.wustl.edu	37	15	74425398	74425398	+	Silent	SNP	C	C	G			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr15:74425398C>G	ENST00000361742.3	+	4	1072	c.303C>G	c.(301-303)ctC>ctG	p.L101L	ISLR2_ENST00000435464.1_Silent_p.L101L|ISLR2_ENST00000453268.2_Silent_p.L101L|ISLR2_ENST00000419208.1_Silent_p.L101L|ISLR2_ENST00000445793.1_Silent_p.L101L|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Silent_p.L101L|ISLR2_ENST00000565540.1_Silent_p.L101L	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	101					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						TGAGTCAGCTCAAGAACCTCG	0.627																																																	0													70.0	64.0	66.0					15																	74425398		2198	4297	6495	SO:0001819	synonymous_variant	57611				CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.303C>G	15.37:g.74425398C>G			A8K352|Q9P263	Silent	SNP	pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Ig-like	p.L101	ENST00000361742.3	37	c.303	CCDS10259.1	15																																																																																			ISLR2	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.627	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISLR2	HGNC	protein_coding	OTTHUMT00000269046.1	C	NM_020851		74425398	+1	no_errors	ENST00000361742	ensembl	human	known	70_37	silent	SNP	0.995	G
JAKMIP3	282973	genome.wustl.edu	37	10	133981481	133981481	+	3'UTR	SNP	C	C	G			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr10:133981481C>G	ENST00000298622.4	+	0	2720				JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3							Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GGACCCTTTTCCTCCAGTGGG	0.602																																																	0																																										SO:0001624	3_prime_UTR_variant	282973			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.*47C>G	10.37:g.133981481C>G			A6PW00|Q69YM6|Q6ZT29	RNA	SNP	-	NULL	ENST00000298622.4	37	NULL	CCDS44494.1	10																																																																																			JAKMIP3	-	-		0.602	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	JAKMIP3	HGNC	protein_coding	OTTHUMT00000051049.3	C	NM_194303		133981481	+1	no_errors	ENST00000477275	ensembl	human	known	70_37	rna	SNP	0.005	G
KBTBD8	84541	genome.wustl.edu	37	3	67048774	67048774	+	5'UTR	SNP	C	C	G			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:67048774C>G	ENST00000417314.2	+	0	44				KBTBD8_ENST00000469661.1_3'UTR|KBTBD8_ENST00000460576.1_5'UTR|KBTBD8_ENST00000295568.4_5'UTR			Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8							cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)				breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GGGGCCCCATCGAGAAATGGC	0.637																																																	0													32.0	38.0	36.0					3																	67048774		692	1591	2283	SO:0001623	5_prime_UTR_variant	84541			AF385438	CCDS2906.1, CCDS2906.2	3p14	2013-01-08			ENSG00000163376	ENSG00000163376		"""BTB/POZ domain containing"""	30691	protein-coding gene	gene with protein product	"""T-cell activation kelch repeat protein"""					11347906	Standard	NM_032505		Approved	TA-KRP, KIAA1842	uc003dmy.3	Q8NFY9	OTTHUMG00000158779	ENST00000417314.2:c.-6C>G	3.37:g.67048774C>G			B4DTW6|Q96JI5	RNA	SNP	-	NULL	ENST00000417314.2	37	NULL	CCDS2906.2	3																																																																																			KBTBD8	-	-		0.637	KBTBD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD8	HGNC	protein_coding	OTTHUMT00000352189.1	C	NM_032505		67048774	+1	no_errors	ENST00000469661	ensembl	human	putative	70_37	rna	SNP	0.000	G
KIF1A	547	genome.wustl.edu	37	2	241660385	241660385	+	Missense_Mutation	SNP	G	G	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr2:241660385G>C	ENST00000320389.7	-	43	4669	c.4511C>G	c.(4510-4512)cCc>cGc	p.P1504R	KIF1A_ENST00000498729.2_Missense_Mutation_p.P1605R	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A	1504					anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		AGTGGAGGAGGGGGTGAGAGT	0.647																																																	0													20.0	24.0	23.0					2																	241660385		2022	4177	6199	SO:0001583	missense	547			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.4511C>G	2.37:g.241660385G>C	ENSP00000322791:p.Pro1504Arg		B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.P1605R	ENST00000320389.7	37	c.4814	CCDS46561.1	2	.	.	.	.	.	.	.	.	.	.	G	21.5	4.161765	0.78226	.	.	ENSG00000130294	ENST00000320389;ENST00000498729;ENST00000373308	T;T	0.73575	-0.69;-0.76	4.02	4.02	0.46733	.	0.000000	0.85682	U	0.000000	D	0.82495	0.5049	M	0.62723	1.935	0.58432	D	0.999998	D;D	0.89917	1.0;0.998	D;P	0.78314	0.991;0.901	T	0.79741	-0.1676	10	0.18710	T	0.47	.	15.7772	0.78232	0.0:0.0:1.0:0.0	.	1605;1504	F5H045;Q12756	.;KIF1A_HUMAN	R	1504;1605;1613	ENSP00000322791:P1504R;ENSP00000438388:P1605R	ENSP00000322791:P1504R	P	-	2	0	KIF1A	241309058	1.000000	0.71417	0.992000	0.48379	0.903000	0.53119	9.182000	0.94881	1.800000	0.52685	0.655000	0.94253	CCC	KIF1A	-	NULL		0.647	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	G	NM_138483		241660385	-1	no_errors	ENST00000498729	ensembl	human	known	70_37	missense	SNP	1.000	C
KLHL33	123103	genome.wustl.edu	37	14	20897328	20897328	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr14:20897328C>T	ENST00000344581.4	-	4	1504	c.1282G>A	c.(1282-1284)Gag>Aag	p.E428K		NM_001109997.2	NP_001103467.2	A6NCF5	KLH33_HUMAN	kelch-like family member 33	428												all_cancers(95;0.00123)		Epithelial(56;7.57e-08)|all cancers(55;8.63e-07)	GBM - Glioblastoma multiforme(265;0.0223)|READ - Rectum adenocarcinoma(17;0.193)		TCCTCAGTCTCACCCAGCCCA	0.597																																																	0													138.0	147.0	144.0					14																	20897328		692	1591	2283	SO:0001583	missense	123103				CCDS53882.1	14q11.2	2013-10-15	2013-02-22		ENSG00000185271	ENSG00000185271		"""Kelch-like"""	31952	protein-coding gene	gene with protein product			"""kelch-like 33 (Drosophila)"""				Standard	NM_001109997		Approved		uc010tli.2	A6NCF5	OTTHUMG00000170982	ENST00000344581.4:c.1282G>A	14.37:g.20897328C>T	ENSP00000341549:p.Glu428Lys			Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,superfamily_BTB/POZ_fold,smart_BACK,smart_Kelch_1	p.E428K	ENST00000344581.4	37	c.1282	CCDS53882.1	14	.	.	.	.	.	.	.	.	.	.	C	8.309	0.821782	0.16678	.	.	ENSG00000185271	ENST00000344581	T	0.67865	-0.29	5.44	3.61	0.41365	Kelch-type beta propeller (1);	0.387872	0.28036	N	0.016846	T	0.48840	0.1522	N	0.20807	0.61	0.26897	N	0.967202	B	0.18013	0.025	B	0.22152	0.038	T	0.39583	-0.9607	10	0.38643	T	0.18	.	8.6677	0.34132	0.0:0.7657:0.1527:0.0816	.	428	A6NCF5	KLH33_HUMAN	K	428	ENSP00000341549:E428K	ENSP00000341549:E428K	E	-	1	0	KLHL33	19967168	0.008000	0.16893	0.958000	0.39756	0.992000	0.81027	0.929000	0.28844	0.846000	0.35142	0.655000	0.94253	GAG	KLHL33	-	pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1		0.597	KLHL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL33	HGNC	protein_coding	OTTHUMT00000411038.1	C	XM_063481		20897328	-1	no_errors	ENST00000344581	ensembl	human	known	70_37	missense	SNP	0.991	T
KLHL38	340359	genome.wustl.edu	37	8	124664926	124664926	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr8:124664926C>T	ENST00000325995.7	-	1	264	c.241G>A	c.(241-243)Gac>Aac	p.D81N	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	81	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GTTGGGGGGTCAATGCCTTTC	0.592																																																	0													76.0	85.0	82.0					8																	124664926		2073	4198	6271	SO:0001583	missense	340359				CCDS43766.1	8q24.13	2013-02-22	2013-02-22		ENSG00000175946	ENSG00000175946		"""Kelch-like"", ""BTB/POZ domain containing"""	34435	protein-coding gene	gene with protein product			"""kelch-like 38 (Drosophila)"""				Standard	NM_001081675		Approved	C8ORFK36	uc003yqs.1	Q2WGJ6	OTTHUMG00000164983	ENST00000325995.7:c.241G>A	8.37:g.124664926C>T	ENSP00000321475:p.Asp81Asn		A0PK12	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.D81N	ENST00000325995.7	37	c.241	CCDS43766.1	8	.	.	.	.	.	.	.	.	.	.	C	0.127	-1.117738	0.01785	.	.	ENSG00000175946	ENST00000325995	T	0.71461	-0.57	5.5	0.527	0.17084	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.735508	0.14037	N	0.345715	T	0.62036	0.2395	L	0.53249	1.67	0.09310	N	1	B	0.15719	0.014	B	0.18263	0.021	T	0.51340	-0.8718	10	0.30078	T	0.28	.	9.9093	0.41394	0.0:0.655:0.0:0.345	.	81	Q2WGJ6	KLH38_HUMAN	N	81	ENSP00000321475:D81N	ENSP00000321475:D81N	D	-	1	0	KLHL38	124734107	0.000000	0.05858	0.003000	0.11579	0.096000	0.18686	-0.086000	0.11233	0.285000	0.22329	-0.258000	0.10820	GAC	KLHL38	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like		0.592	KLHL38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL38	HGNC	protein_coding	OTTHUMT00000381288.1	C			124664926	-1	no_errors	ENST00000325995	ensembl	human	known	70_37	missense	SNP	0.000	T
KRT24	192666	genome.wustl.edu	37	17	38857427	38857427	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr17:38857427C>T	ENST00000264651.2	-	3	876	c.820G>A	c.(820-822)Gag>Aag	p.E274K		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	274	Coil 1B.|Rod.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				GCTAGCTCCTCGGTGAAACTC	0.498																																					GBM(61;380 1051 14702 23642 31441)												0													137.0	120.0	126.0					17																	38857427		2203	4300	6503	SO:0001583	missense	192666				CCDS11372.1	17q21.2	2013-06-25			ENSG00000167916	ENSG00000167916		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	18527	protein-coding gene	gene with protein product		607742				16831889	Standard	NM_019016		Approved	FLJ20261, MGC138169, MGC138173	uc002hvd.3	Q2M2I5	OTTHUMG00000133372	ENST00000264651.2:c.820G>A	17.37:g.38857427C>T	ENSP00000264651:p.Glu274Lys		Q9NXG7	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.E274K	ENST00000264651.2	37	c.820	CCDS11372.1	17	.	.	.	.	.	.	.	.	.	.	C	25.6	4.659567	0.88154	.	.	ENSG00000167916	ENST00000264651	D	0.92149	-2.98	5.82	5.82	0.92795	Prefoldin (1);Filament (1);	.	.	.	.	D	0.96349	0.8809	M	0.79805	2.47	0.58432	D	0.999998	D	0.89917	1.0	D	0.73380	0.98	D	0.96251	0.9183	9	0.87932	D	0	.	20.1734	0.98165	0.0:1.0:0.0:0.0	.	274	Q2M2I5	K1C24_HUMAN	K	274	ENSP00000264651:E274K	ENSP00000264651:E274K	E	-	1	0	KRT24	36110953	1.000000	0.71417	0.979000	0.43373	0.338000	0.28826	4.977000	0.63792	2.767000	0.95098	0.558000	0.71614	GAG	KRT24	-	pfam_F,superfamily_Prefoldin		0.498	KRT24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT24	HGNC	protein_coding	OTTHUMT00000257217.1	C	NM_019016		38857427	-1	no_errors	ENST00000264651	ensembl	human	known	70_37	missense	SNP	1.000	T
KY	339855	genome.wustl.edu	37	3	134366309	134366309	+	Missense_Mutation	SNP	C	C	T	rs557297314		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:134366309C>T	ENST00000423778.2	-	2	228	c.167G>A	c.(166-168)aGa>aAa	p.R56K	KY_ENST00000503669.1_Missense_Mutation_p.R56K|KY_ENST00000508956.1_Missense_Mutation_p.R56K	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	56					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						TTTCTGCCATCTTCGGACTCC	0.388																																																	0													93.0	91.0	92.0					3																	134366309		1840	4092	5932	SO:0001583	missense	339855			AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.167G>A	3.37:g.134366309C>T	ENSP00000397598:p.Arg56Lys		B7Z1S4|Q6ZT15	Missense_Mutation	SNP	pfam_Transglutaminase-like,smart_Transglutaminase-like	p.R56K	ENST00000423778.2	37	c.167	CCDS46920.1	3	.	.	.	.	.	.	.	.	.	.	C	9.870	1.198790	0.22121	.	.	ENSG00000174611	ENST00000508956;ENST00000423778;ENST00000503669;ENST00000310263	.	.	.	5.85	2.5	0.30297	.	0.568447	0.17397	N	0.175707	T	0.16938	0.0407	N	0.20685	0.6	0.21553	N	0.999646	B;B;B;B	0.11235	0.001;0.0;0.001;0.004	B;B;B;B	0.08055	0.001;0.0;0.001;0.003	T	0.34527	-0.9825	9	0.02654	T	1	-12.0094	6.0237	0.19642	0.0:0.3908:0.0:0.6091	.	56;56;56;38	Q8NBH2-3;B4DGA7;Q8NBH2-4;Q8NBH2-2	.;.;.;.	K	56	.	ENSP00000309520:R56K	R	-	2	0	KY	135848999	1.000000	0.71417	0.995000	0.50966	0.985000	0.73830	0.984000	0.29565	0.130000	0.18549	0.655000	0.94253	AGA	KY	-	NULL		0.388	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KY	HGNC	protein_coding	OTTHUMT00000357320.1	C	NM_178554		134366309	-1	no_errors	ENST00000423778	ensembl	human	known	70_37	missense	SNP	1.000	T
LAMA3	3909	genome.wustl.edu	37	18	21364001	21364001	+	Silent	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr18:21364001C>T	ENST00000313654.9	+	12	1724	c.1483C>T	c.(1483-1485)Ctg>Ttg	p.L495L	LAMA3_ENST00000399516.3_Silent_p.L495L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	495	Domain V.|Laminin EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00460}.				cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)					TGACTGTAATCTGGAAGGTGT	0.522																																																	0													147.0	150.0	149.0					18																	21364001		1910	4126	6036	SO:0001819	synonymous_variant	3909			L34155	CCDS11880.1, CCDS42419.1, CCDS45838.1, CCDS59307.1	18q11.2	2013-03-01	2002-08-29		ENSG00000053747	ENSG00000053747		"""Laminins"""	6483	protein-coding gene	gene with protein product		600805	"""laminin, alpha 3 (nicein (150kD), kalinin (165kD), BM600 (150kD), epilegrin)"""	LAMNA		8077230	Standard	NM_000227		Approved	nicein-150kDa, kalinin-165kDa, BM600-150kDa, epiligrin	uc002kuq.3	Q16787	OTTHUMG00000131874	ENST00000313654.9:c.1483C>T	18.37:g.21364001C>T			B0YJ33|Q13679|Q13680|Q6VU67|Q6VU68|Q6VU69|Q76E14|Q96TG0	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N	p.L495	ENST00000313654.9	37	c.1483	CCDS42419.1	18																																																																																			LAMA3	-	pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin		0.522	LAMA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA3	HGNC	protein_coding	OTTHUMT00000254824.3	C	NM_000227, NM_198129		21364001	+1	no_errors	ENST00000313654	ensembl	human	known	70_37	silent	SNP	0.001	T
LAMB3	3914	genome.wustl.edu	37	1	209788694	209788694	+	Silent	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:209788694C>T	ENST00000356082.4	-	23	3575	c.3441G>A	c.(3439-3441)ctG>ctA	p.L1147L	LAMB3_ENST00000391911.1_Silent_p.L1147L|LAMB3_ENST00000367030.3_Silent_p.L1147L	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	1147	Domain I.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CCAGTCCTGTCAGGTCCGCTG	0.592																																																	0													125.0	100.0	108.0					1																	209788694		2203	4300	6503	SO:0001819	synonymous_variant	3914			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.3441G>A	1.37:g.209788694C>T			D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N	p.L1147	ENST00000356082.4	37	c.3441	CCDS1487.1	1																																																																																			LAMB3	-	NULL		0.592	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB3	HGNC	protein_coding	OTTHUMT00000088525.2	C	NM_000228		209788694	-1	no_errors	ENST00000356082	ensembl	human	known	70_37	silent	SNP	0.946	T
LAMP5	24141	genome.wustl.edu	37	20	9496676	9496676	+	Missense_Mutation	SNP	G	G	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr20:9496676G>C	ENST00000246070.2	+	3	759	c.267G>C	c.(265-267)ttG>ttC	p.L89F	RP5-1119D9.4_ENST00000443469.1_RNA|LAMP5_ENST00000427562.2_Intron	NM_012261.3	NP_036393.1	Q9UJQ1	LAMP5_HUMAN	lysosomal-associated membrane protein family, member 5	89						cytoplasmic vesicle membrane (GO:0030659)|dendrite membrane (GO:0032590)|early endosome membrane (GO:0031901)|endoplasmic reticulum-Golgi intermediate compartment membrane (GO:0033116)|endosome membrane (GO:0010008)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)											ATATCGCATTGACCCGGGGAG	0.647																																																	0													34.0	34.0	34.0					20																	9496676		2203	4300	6503	SO:0001583	missense	24141			AL121740	CCDS13106.1, CCDS56177.1	20p12	2013-03-14	2011-11-25	2011-11-25	ENSG00000125869	ENSG00000125869			16097	protein-coding gene	gene with protein product	"""brain and dendritic cell associated LAMP"""	614641	"""chromosome 20 open reading frame 103"""	C20orf103		11780052, 21642595	Standard	NM_012261		Approved	dJ1119D9.3, BAD-LAMP, UNC-43	uc002wni.2	Q9UJQ1	OTTHUMG00000031851	ENST00000246070.2:c.267G>C	20.37:g.9496676G>C	ENSP00000246070:p.Leu89Phe		B4DHZ7|B7Z9Z9	Missense_Mutation	SNP	pfam_Lysosome-assoc_membr_glycop	p.L89F	ENST00000246070.2	37	c.267	CCDS13106.1	20	.	.	.	.	.	.	.	.	.	.	G	16.98	3.271867	0.59649	.	.	ENSG00000125869	ENST00000246070	T	0.32753	1.44	6.08	2.95	0.34219	.	0.068412	0.64402	D	0.000019	T	0.23926	0.0579	L	0.32530	0.975	0.80722	D	1	P	0.45672	0.864	P	0.47528	0.549	T	0.02417	-1.1162	9	.	.	.	-9.61	3.9824	0.09501	0.1433:0.1058:0.5701:0.1809	.	89	Q9UJQ1	CT103_HUMAN	F	89	ENSP00000246070:L89F	.	L	+	3	2	C20orf103	9444676	1.000000	0.71417	0.994000	0.49952	0.820000	0.46376	0.969000	0.29370	1.597000	0.50072	0.655000	0.94253	TTG	LAMP5	-	pfam_Lysosome-assoc_membr_glycop		0.647	LAMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMP5	HGNC	protein_coding	OTTHUMT00000077946.2	G	NM_012261		9496676	+1	no_errors	ENST00000246070	ensembl	human	known	70_37	missense	SNP	0.976	C
LBR	3930	genome.wustl.edu	37	1	225606999	225606999	+	Silent	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:225606999G>A	ENST00000338179.2	-	5	731	c.606C>T	c.(604-606)atC>atT	p.I202I	LBR_ENST00000272163.4_Silent_p.I202I|LBR_ENST00000487054.1_5'UTR	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	202					cholesterol biosynthetic process (GO:0006695)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|integral component of nuclear inner membrane (GO:0005639)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|lamin binding (GO:0005521)|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor (GO:0016628)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		CCTTTGCCCGGATGGGGGTCA	0.498																																																	0													87.0	93.0	91.0					1																	225606999		2203	4300	6503	SO:0001819	synonymous_variant	3930			L25931	CCDS1545.1	1q42.1	2013-01-23			ENSG00000143815	ENSG00000143815		"""Tudor domain containing"""	6518	protein-coding gene	gene with protein product	"""tudor domain containing 18"""	600024				8157663, 9878250	Standard	NM_194442		Approved	DHCR14B, TDRD18	uc001hoy.3	Q14739	OTTHUMG00000037520	ENST00000338179.2:c.606C>T	1.37:g.225606999G>A			B2R5P3|Q14740|Q53GU7|Q59FE6	Silent	SNP	pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_Lamin-B_rcpt_of_tudor,pfam_DUF1295,smart_Tudor	p.I202	ENST00000338179.2	37	c.606	CCDS1545.1	1																																																																																			LBR	-	pfam_Ergosterol_biosynth_ERG4_ERG24		0.498	LBR-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LBR	HGNC	protein_coding	OTTHUMT00000091398.1	G	NM_002296		225606999	-1	no_errors	ENST00000272163	ensembl	human	known	70_37	silent	SNP	0.000	A
LEUTX	342900	genome.wustl.edu	37	19	40276439	40276439	+	Silent	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:40276439G>A	ENST00000396841.4	+	3	335	c.171G>A	c.(169-171)aaG>aaA	p.K57K		NM_001143832.1	NP_001137304.1	A8MZ59	LEUTX_HUMAN	leucine twenty homeobox	57					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|breast(1)|kidney(1)|skin(2)	5						CTTCAGTGAAGAAGGAGGAGA	0.507																																																	0													87.0	87.0	87.0					19																	40276439		692	1591	2283	SO:0001819	synonymous_variant	342900					19q13.2	2011-06-20			ENSG00000213921	ENSG00000213921		"""Homeoboxes / PRD class"""	31953	protein-coding gene	gene with protein product							Standard	NM_001143832		Approved		uc010xvg.2	A8MZ59		ENST00000396841.4:c.171G>A	19.37:g.40276439G>A				Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,pfscan_Homeodomain	p.K57	ENST00000396841.4	37	c.171		19	.	.	.	.	.	.	.	.	.	.	.	2.244	-0.373037	0.05034	.	.	ENSG00000213921	ENST00000556180	.	.	.	2.66	-2.32	0.06745	.	.	.	.	.	T	0.20780	0.0500	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.27606	-1.0069	4	.	.	.	.	3.4159	0.07376	0.3934:0.2041:0.4025:0.0	.	.	.	.	K	112	.	.	R	+	2	0	LEUTX	44968279	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.681000	0.05191	-0.402000	0.07633	-0.143000	0.13931	AGA	LEUTX	-	NULL		0.507	LEUTX-001	NOVEL	basic|appris_principal	protein_coding	LEUTX	HGNC	protein_coding	OTTHUMT00000410828.3	G	XM_001129035		40276439	+1	no_errors	ENST00000396841	ensembl	human	novel	70_37	silent	SNP	0.000	A
LINC00442	348021	genome.wustl.edu	37	13	19586373	19586373	+	RNA	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr13:19586373G>A	ENST00000456737.1	+	0	1737				LINC00442_ENST00000428086.2_RNA|LINC00442_ENST00000542070.1_RNA	NR_026852.1				long intergenic non-protein coding RNA 442																		GGACAACCCCGGATGAGGTCC	0.522																																																	0																																												348021					13q12.11	2012-10-12			ENSG00000232685	ENSG00000232685		"""Long non-coding RNAs"""	42779	non-coding RNA	RNA, long non-coding							Standard	NR_026852		Approved		uc001uma.1		OTTHUMG00000016475		13.37:g.19586373G>A				RNA	SNP	-	NULL	ENST00000456737.1	37	NULL		13																																																																																			LINC00442	-	-		0.522	LINC00442-003	KNOWN	basic	antisense	LINC00442	HGNC	antisense	OTTHUMT00000106498.1	G			19586373	+1	no_errors	ENST00000428086	ensembl	human	known	70_37	rna	SNP	0.001	A
LINC00539	100652865	genome.wustl.edu	37	13	21875617	21875617	+	lincRNA	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr13:21875617G>A	ENST00000434601.3	-	0	1920				MIPEPP3_ENST00000424756.1_RNA					long intergenic non-protein coding RNA 539																		TATGAAATATGAAGGATTTCA	0.463																																																	0																																												100652865			BG940872		13q12.11	2013-08-05			ENSG00000244054	ENSG00000224429		"""Long non-coding RNAs"""	43672	non-coding RNA	RNA, long non-coding			"""long intergenic non-protein coding RNA 422"""	LINC00422			Standard	NR_103840		Approved				OTTHUMG00000016541		13.37:g.21875617G>A				RNA	SNP	-	NULL	ENST00000434601.3	37	NULL		13																																																																																			LINC00539	-	-		0.463	LINC00539-004	NOVEL	basic	lincRNA	LINC00539	HGNC	lincRNA	OTTHUMT00000472271.1	G			21875617	+1	no_errors	ENST00000424756	ensembl	human	known	70_37	rna	SNP	0.901	A
LINS	55180	genome.wustl.edu	37	15	101109673	101109673	+	Missense_Mutation	SNP	G	G	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr15:101109673G>C	ENST00000314742.8	-	7	2266	c.2044C>G	c.(2044-2046)Ctg>Gtg	p.L682V	LINS_ENST00000559149.1_5'Flank	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	682										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TTCAGAACCAGAGGCCTTGAT	0.418																																																	0													84.0	86.0	86.0					15																	101109673		2203	4300	6503	SO:0001583	missense	55180			AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.2044C>G	15.37:g.101109673G>C	ENSP00000318423:p.Leu682Val		Q96FW2|Q9NVQ3	Missense_Mutation	SNP	NULL	p.L682V	ENST00000314742.8	37	c.2044	CCDS10385.1	15	.	.	.	.	.	.	.	.	.	.	G	12.61	1.988965	0.35131	.	.	ENSG00000140471	ENST00000314742	T	0.12879	2.64	5.41	1.21	0.21127	.	0.621539	0.15017	N	0.285195	T	0.11495	0.0280	L	0.36672	1.1	0.09310	N	1	B	0.27997	0.197	B	0.28465	0.09	T	0.20207	-1.0282	10	0.59425	D	0.04	-0.1488	9.9804	0.41811	0.0719:0.3954:0.5327:0.0	.	682	Q8NG48	LINES_HUMAN	V	682	ENSP00000318423:L682V	ENSP00000318423:L682V	L	-	1	2	LINS	98927196	0.022000	0.18835	0.002000	0.10522	0.265000	0.26407	0.881000	0.28173	-0.031000	0.13781	0.591000	0.81541	CTG	LINS	-	NULL		0.418	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINS	HGNC	protein_coding	OTTHUMT00000313592.1	G	NM_018148		101109673	-1	no_errors	ENST00000314742	ensembl	human	known	70_37	missense	SNP	0.003	C
RP11-15H20.7	0	genome.wustl.edu	37	19	23456955	23456955	+	lincRNA	SNP	G	G	A	rs575214407		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:23456955G>A	ENST00000594653.1	-	0	79																											GCAAGAGGCTGTGACAGTCAC	0.602																																																	0																																												100132815																															19.37:g.23456955G>A				RNA	SNP	-	NULL	ENST00000594653.1	37	NULL		19																																																																																			RP11-15H20.6	-	-		0.602	RP11-15H20.7-002	KNOWN	basic|readthrough_transcript	lincRNA	LOC100132815	Clone_based_vega_gene	lincRNA	OTTHUMT00000465750.1	G			23456955	-1	no_errors	ENST00000593324	ensembl	human	known	70_37	rna	SNP	0.007	A
BMS1P17	101101776	genome.wustl.edu	37	14	19685595	19685595	+	lincRNA	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr14:19685595G>A	ENST00000418499.3	+	0	2706																											TGGCCCGGGTGGGGGTAGCGG	0.756																																																	0													1.0	1.0	1.0					14																	19685595		15	77	92			100506303																															14.37:g.19685595G>A				RNA	SNP	-	NULL	ENST00000418499.3	37	NULL		14																																																																																			AL589743.1	-	-		0.756	AL589743.1-003	KNOWN	basic	lincRNA	LOC100506303	Clone_based_vega_gene	lincRNA	OTTHUMT00000317887.3	G			19685595	+1	no_errors	ENST00000418499	ensembl	human	known	70_37	rna	SNP	0.057	A
LINC01410	103352539	genome.wustl.edu	37	9	66466414	66466414	+	lincRNA	SNP	A	A	G			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr9:66466414A>G	ENST00000424345.1	+	0	1047																											aaacccctgcatttctctctt	0.433																																																	0																																												100996870																															9.37:g.66466414A>G				RNA	SNP	-	NULL	ENST00000424345.1	37	NULL		9																																																																																			RP11-262H14.1	-	-		0.433	RP11-262H14.1-001	KNOWN	basic	lincRNA	LOC100996870	Clone_based_vega_gene	lincRNA	OTTHUMT00000128851.1	A			66466414	+1	no_errors	ENST00000424345	ensembl	human	known	70_37	rna	SNP	0.013	G
FAM230A	653203	genome.wustl.edu	37	22	20708827	20708827	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr22:20708827G>A	ENST00000434783.3	+	8	743	c.559G>A	c.(559-561)Gag>Aag	p.E187K	USP41_ENST00000454608.2_Intron|USP41_ENST00000486536.2_Intron					family with sequence similarity 230, member A																		AATCGCTAACGAGGACGCCGC	0.622																																																	0																																										SO:0001583	missense	101060787			JX456222		22q11.21	2014-08-13			ENSG00000188280	ENSG00000188280			45045	other	unknown							Standard	XM_006724099		Approved	DGCR15			OTTHUMG00000150686	ENST00000434783.3:c.559G>A	22.37:g.20708827G>A	ENSP00000463576:p.Glu187Lys			Missense_Mutation	SNP	pfam_Ret-finger_pr-like_3_antisense,superfamily_Kinase-like_dom	p.E187K	ENST00000434783.3	37	c.559		22																																																																																			AC007731.1	-	superfamily_Kinase-like_dom		0.622	FAM230A-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	LOC101060787	Clone_based_vega_gene	protein_coding	OTTHUMT00000319609.4	G			20708827	+1	no_errors	ENST00000434783	ensembl	human	putative	70_37	missense	SNP	0.000	A
NPIPB6	728741	genome.wustl.edu	37	16	28354457	28354457	+	Missense_Mutation	SNP	G	G	A	rs62031399		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr16:28354457G>A	ENST00000532254.1	-	7	1434	c.749C>T	c.(748-750)cCc>cTc	p.P250L	NPIPB6_ENST00000533640.1_Missense_Mutation_p.P232L	NM_001282524.1	NP_001269453.1	E9PJ23	NPIB6_HUMAN	nuclear pore complex interacting protein family, member B6	250																	TGTGAGGTAGGGCCAGTAGGG	0.483																																																	0																																										SO:0001583	missense	728741				CCDS61892.1	16p11.2	2013-06-11			ENSG00000198156	ENSG00000198156			37454	protein-coding gene	gene with protein product							Standard	XM_005255741		Approved			E9PJ23	OTTHUMG00000166319	ENST00000532254.1:c.749C>T	16.37:g.28354457G>A	ENSP00000431871:p.Pro250Leu			Missense_Mutation	SNP	pfam_NPIP	p.P250L	ENST00000532254.1	37	c.749		16	.	.	.	.	.	.	.	.	.	.	-	1.825	-0.471191	0.04445	.	.	ENSG00000198156	ENST00000533640;ENST00000532254	T;T	0.46819	0.86;0.86	0.167	0.167	0.15006	.	.	.	.	.	T	0.32882	0.0844	L	0.31207	0.915	0.80722	P	0.0	B;B	0.22480	0.07;0.039	B;B	0.25140	0.046;0.058	T	0.35425	-0.9789	7	0.48119	T	0.1	.	.	.	.	.	250;232	E9PJ23;E9PS57	.;.	L	232;250	ENSP00000435924:P232L;ENSP00000431871:P250L	ENSP00000431871:P250L	P	-	2	0	RP11-57A19.3	28261958	0.002000	0.14202	0.042000	0.18584	0.043000	0.13939	-0.117000	0.10708	0.276000	0.22118	0.281000	0.19383	CCC	A-575C2.4	-	pfam_NPIP		0.483	NPIPB6-002	NOVEL	basic|appris_principal	protein_coding	LOC728741	Uniprot_genename	protein_coding	OTTHUMT00000389133.1	G	XM_001717652		28354457	-1	no_errors	ENST00000532254	ensembl	human	novel	70_37	missense	SNP	0.047	A
RPL36	25873	genome.wustl.edu	37	19	5694527	5694527	+	IGR	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:5694527C>T	ENST00000577222.1	+	0	874				LONP1_ENST00000593119.1_Missense_Mutation_p.E667K|LONP1_ENST00000590729.1_Missense_Mutation_p.E601K|LONP1_ENST00000360614.3_Missense_Mutation_p.E731K|LONP1_ENST00000540670.2_Missense_Mutation_p.E535K|LONP1_ENST00000585374.1_Missense_Mutation_p.E617K			Q9Y3U8	RL36_HUMAN	ribosomal protein L36						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|upper_aerodigestive_tract(1)	2						GACTCGGCCTCGCCGCTGACA	0.647																																																	0													64.0	52.0	56.0					19																	5694527		2202	4300	6502	SO:0001628	intergenic_variant	9361				CCDS12147.1	19p13.2	2011-04-06				ENSG00000130255		"""L ribosomal proteins"""	13631	protein-coding gene	gene with protein product							Standard	NM_033643		Approved	DKFZp566B023, L36	uc002mcv.3	Q9Y3U8			19.37:g.5694527C>T			B2R4Y1|D6W634|Q6FIG1|Q9UQF6	Missense_Mutation	SNP	pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Pept_S16_lon	p.E731K	ENST00000577222.1	37	c.2191	CCDS12147.1	19	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047517	0.36085	.	.	ENSG00000196365	ENST00000360614;ENST00000358403;ENST00000540670	T;T	0.23754	2.22;1.89	3.97	2.9	0.33743	.	0.179238	0.46758	D	0.000264	T	0.19485	0.0468	L	0.35723	1.085	0.37925	D	0.931829	B;B;B	0.29378	0.062;0.243;0.123	B;B;B	0.24974	0.021;0.057;0.028	T	0.09271	-1.0682	10	0.52906	T	0.07	-28.0397	11.1972	0.48719	0.0:0.8118:0.1881:0.0	.	731;667;731	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	K	731;695;535	ENSP00000353826:E731K;ENSP00000441523:E535K	ENSP00000351177:E695K	E	-	1	0	LONP1	5645527	0.996000	0.38824	0.085000	0.20634	0.603000	0.37013	3.438000	0.52871	0.632000	0.30432	0.462000	0.41574	GAG	LONP1	-	tigrfam_Pept_S16_lon		0.647	RPL36-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	LONP1	HGNC	protein_coding	OTTHUMT00000442561.1	C	NM_015414		5694527	-1	no_errors	ENST00000360614	ensembl	human	known	70_37	missense	SNP	0.468	T
CATSPERD	257062	genome.wustl.edu	37	19	5719717	5719717	+	5'Flank	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:5719717C>T	ENST00000381624.3	+	0	0				LONP1_ENST00000593119.1_Missense_Mutation_p.E79K|LONP1_ENST00000590729.1_Missense_Mutation_p.E29K|LONP1_ENST00000360614.3_Missense_Mutation_p.E143K|LONP1_ENST00000540670.2_Intron|LONP1_ENST00000585374.1_Missense_Mutation_p.E29K|LONP1_ENST00000590511.1_5'UTR|CATSPERD_ENST00000381614.2_5'Flank	NM_152784.3	NP_689997.3	Q86XM0	CTSRD_HUMAN	catsper channel auxiliary subunit delta						multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)											CCCATTACCTCGATAATCTTG	0.597																																																	0													40.0	40.0	40.0					19																	5719717		2202	4298	6500	SO:0001631	upstream_gene_variant	9361			BC043005	CCDS12149.2	19p13.3	2013-10-11	2012-02-22	2012-02-22	ENSG00000174898	ENSG00000174898			28598	protein-coding gene	gene with protein product			"""transmembrane protein 146"""	TMEM146		21224844	Standard	NM_152784		Approved	MGC39581	uc002mda.3	Q86XM0	OTTHUMG00000143036		19.37:g.5719717C>T	Exception_encountered		Q6ZRP1	Missense_Mutation	SNP	pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Pept_S16_lon	p.E143K	ENST00000381624.3	37	c.427	CCDS12149.2	19	.	.	.	.	.	.	.	.	.	.	C	24.0	4.481258	0.84747	.	.	ENSG00000196365	ENST00000360614;ENST00000358403	T	0.42513	0.97	4.48	4.48	0.54585	Peptidase S16, lon N-terminal (2);PUA-like domain (1);	0.054664	0.64402	D	0.000001	T	0.63896	0.2550	M	0.76838	2.35	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.74674	0.984;0.969;0.984	T	0.66404	-0.5932	10	0.46703	T	0.11	-18.9815	14.7205	0.69302	0.0:1.0:0.0:0.0	.	143;79;143	E5KMH8;Q8N8K8;P36776	.;.;LONM_HUMAN	K	143;107	ENSP00000353826:E143K	ENSP00000351177:E107K	E	-	1	0	LONP1	5670717	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	6.492000	0.73654	2.315000	0.78130	0.591000	0.81541	GAG	LONP1	-	pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N,tigrfam_Pept_S16_lon		0.597	CATSPERD-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	LONP1	HGNC	protein_coding	OTTHUMT00000286953.2	C	NM_152784		5719717	-1	no_errors	ENST00000360614	ensembl	human	known	70_37	missense	SNP	1.000	T
LPCAT2	54947	genome.wustl.edu	37	16	55563840	55563840	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr16:55563840C>A	ENST00000262134.5	+	4	807	c.623C>A	c.(622-624)tCa>tAa	p.S208*		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	208					glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						CGAACAACATCAGGAGGAGAA	0.378																																																	0													48.0	47.0	47.0					16																	55563840		2198	4300	6498	SO:0001587	stop_gained	54947			AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"""EF-hand domain containing"""	26032	protein-coding gene	gene with protein product		612040	"""acyltransferase like 1"""	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.623C>A	16.37:g.55563840C>A	ENSP00000262134:p.Ser208*		A3KBM1|Q6MZJ6|Q9NX23	Nonsense_Mutation	SNP	pfam_EF-hand,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.S208*	ENST00000262134.5	37	c.623	CCDS10753.1	16	.	.	.	.	.	.	.	.	.	.	C	33	5.253015	0.95336	.	.	ENSG00000087253	ENST00000262134	.	.	.	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-30.1108	19.3057	0.94161	0.0:1.0:0.0:0.0	.	.	.	.	X	208	.	ENSP00000262134:S208X	S	+	2	0	LPCAT2	54121341	1.000000	0.71417	0.808000	0.32385	0.745000	0.42441	6.776000	0.75023	2.644000	0.89710	0.650000	0.86243	TCA	LPCAT2	-	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase		0.378	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT2	HGNC	protein_coding	OTTHUMT00000256977.2	C	NM_017839		55563840	+1	no_errors	ENST00000262134	ensembl	human	known	70_37	nonsense	SNP	1.000	A
LRCH3	84859	genome.wustl.edu	37	3	197593020	197593020	+	Missense_Mutation	SNP	C	C	G			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:197593020C>G	ENST00000425562.2	+	17	1803	c.1803C>G	c.(1801-1803)atC>atG	p.I601M	LRCH3_ENST00000334859.4_Missense_Mutation_p.I601M|LRCH3_ENST00000441090.2_Missense_Mutation_p.I447M|LRCH3_ENST00000438796.2_Missense_Mutation_p.I601M|LRCH3_ENST00000536618.1_Missense_Mutation_p.I196M|LRCH3_ENST00000414675.2_Missense_Mutation_p.I549M			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	601						cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		CTGCTGCTATCCAGAGAAATC	0.408																																																	0													113.0	116.0	115.0					3																	197593020		2203	4300	6503	SO:0001583	missense	84859			AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.1803C>G	3.37:g.197593020C>G	ENSP00000393579:p.Ile601Met		B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain	p.I601M	ENST00000425562.2	37	c.1803		3	.	.	.	.	.	.	.	.	.	.	C	13.49	2.252775	0.39797	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562;ENST00000536618	T;T;T;T;T;T	0.42900	2.15;1.55;2.15;2.4;2.18;0.96	5.12	3.34	0.38264	.	1.048890	0.07461	N	0.900639	T	0.32585	0.0834	N	0.19112	0.55	0.21386	N	0.999708	P;B;P;B;P	0.44090	0.826;0.205;0.738;0.36;0.493	B;B;B;B;B	0.41466	0.208;0.071;0.358;0.098;0.253	T	0.18903	-1.0322	10	0.38643	T	0.18	2.1843	11.3063	0.49336	0.0:0.8512:0.0:0.1488	.	447;549;601;601;601	E9PD99;B4E0T7;Q96II8-2;Q96II8;Q96II8-3	.;.;.;LRCH3_HUMAN;.	M	601;447;549;601;601;196	ENSP00000399751:I601M;ENSP00000394609:I447M;ENSP00000394965:I549M;ENSP00000334375:I601M;ENSP00000393579:I601M;ENSP00000439083:I196M	ENSP00000334375:I601M	I	+	3	3	LRCH3	199077417	0.146000	0.22672	0.831000	0.32960	0.978000	0.69477	0.382000	0.20635	0.584000	0.29591	0.555000	0.69702	ATC	LRCH3	-	NULL		0.408	LRCH3-006	KNOWN	basic	protein_coding	LRCH3	HGNC	protein_coding	OTTHUMT00000339965.1	C	NM_032773		197593020	+1	no_errors	ENST00000438796	ensembl	human	known	70_37	missense	SNP	0.927	G
LRP4	4038	genome.wustl.edu	37	11	46894788	46894788	+	Intron	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr11:46894788G>A	ENST00000378623.1	-	30	4691				LRP4-AS1_ENST00000502049.2_RNA|LRP4-AS1_ENST00000531719.1_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4						dendrite morphogenesis (GO:0048813)|dorsal/ventral pattern formation (GO:0009953)|embryonic digit morphogenesis (GO:0042733)|endocytosis (GO:0006897)|extracellular matrix organization (GO:0030198)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|limb development (GO:0060173)|negative regulation of axonogenesis (GO:0050771)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of ossification (GO:0030279)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of presynaptic membrane organization (GO:1901631)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|protein heterotetramerization (GO:0051290)|proximal/distal pattern formation (GO:0009954)|regulation of protein phosphorylation (GO:0001932)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|synapse organization (GO:0050808)|synaptic growth at neuromuscular junction (GO:0051124)|Wnt signaling pathway (GO:0016055)	cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|synaptic membrane (GO:0097060)	calcium ion binding (GO:0005509)|receptor tyrosine kinase binding (GO:0030971)|scaffold protein binding (GO:0097110)			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		AGAGGTACCTGAGACACAACA	0.532																																																	0													78.0	68.0	71.0					11																	46894788		2201	4299	6500	SO:0001627	intron_variant	100507401			AB011540	CCDS31478.1	11p11.2	2013-05-29			ENSG00000134569	ENSG00000134569		"""Low density lipoprotein receptors"""	6696	protein-coding gene	gene with protein product		604270				9693030	Standard	NM_002334		Approved	MEGF7, CLSS, LRP-4, SOST2	uc001ndn.4	O75096	OTTHUMG00000166700	ENST00000378623.1:c.4449-3C>T	11.37:g.46894788G>A			B2RN39|Q4AC85|Q5KTZ5	RNA	SNP	-	NULL	ENST00000378623.1	37	NULL	CCDS31478.1	11																																																																																			LRP4-AS1	-	-		0.532	LRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP4-AS1	HGNC	protein_coding	OTTHUMT00000391133.1	G	NM_002334		46894788	+1	no_errors	ENST00000502049	ensembl	human	known	70_37	rna	SNP	0.448	A
LRRC41	10489	genome.wustl.edu	37	1	46751848	46751848	+	Silent	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:46751848G>A	ENST00000343304.6	-	4	966	c.681C>T	c.(679-681)gtC>gtT	p.V227V	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	227					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ACACTTGACTGACAGCCCCAT	0.567																																																	0													61.0	55.0	57.0					1																	46751848		2203	4300	6503	SO:0001819	synonymous_variant	10489			AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.681C>T	1.37:g.46751848G>A			A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.V227	ENST00000343304.6	37	c.681	CCDS533.1	1																																																																																			LRRC41	-	NULL		0.567	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC41	HGNC	protein_coding	OTTHUMT00000021438.1	G	NM_006369		46751848	-1	no_errors	ENST00000343304	ensembl	human	known	70_37	silent	SNP	0.488	A
LRRC47	57470	genome.wustl.edu	37	1	3703508	3703508	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:3703508C>T	ENST00000378251.1	-	2	1009	c.982G>A	c.(982-984)Gag>Aag	p.E328K	RP1-286D6.5_ENST00000607459.1_RNA	NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	328							phenylalanine-tRNA ligase activity (GO:0004826)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		TCCCGGACCTCGGGGCTCACT	0.652																																																	0													31.0	30.0	30.0					1																	3703508		2200	4299	6499	SO:0001583	missense	57470			AB033011	CCDS51.1	1p36.32	2008-02-05			ENSG00000130764	ENSG00000130764			29207	protein-coding gene	gene with protein product						10574461	Standard	NM_020710		Approved	KIAA1185, RP1-286D6.3	uc001akx.1	Q8N1G4	OTTHUMG00000003506	ENST00000378251.1:c.982G>A	1.37:g.3703508C>T	ENSP00000367498:p.Glu328Lys		Q9ULN5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_B3/B4_tRNA-bd,smart_Leu-rich_rpt_typical-subtyp,smart_B3/B4_tRNA-bd	p.E328K	ENST00000378251.1	37	c.982	CCDS51.1	1	.	.	.	.	.	.	.	.	.	.	C	2.268	-0.367752	0.05069	.	.	ENSG00000130764	ENST00000378251	T	0.45668	0.89	5.22	2.16	0.27623	.	0.672707	0.15858	N	0.241186	T	0.25306	0.0615	L	0.47190	1.495	0.09310	N	1	P	0.37158	0.585	B	0.25614	0.062	T	0.07868	-1.0750	10	0.19590	T	0.45	-20.955	5.7345	0.18059	0.141:0.6325:0.0:0.2264	.	328	Q8N1G4	LRC47_HUMAN	K	328	ENSP00000367498:E328K	ENSP00000367498:E328K	E	-	1	0	LRRC47	3693368	0.000000	0.05858	0.989000	0.46669	0.712000	0.41017	0.468000	0.22051	1.208000	0.43306	0.650000	0.86243	GAG	LRRC47	-	NULL		0.652	LRRC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC47	HGNC	protein_coding	OTTHUMT00000009744.1	C	NM_020710		3703508	-1	no_errors	ENST00000378251	ensembl	human	known	70_37	missense	SNP	0.086	T
LRRC41	10489	genome.wustl.edu	37	1	46752035	46752035	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:46752035C>T	ENST00000343304.6	-	4	779	c.494G>A	c.(493-495)cGa>cAa	p.R165Q	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	165					protein ubiquitination (GO:0016567)	membrane (GO:0016020)				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGTGAGCTGTCGGACATGGCG	0.567																																																	0													61.0	63.0	62.0					1																	46752035		2203	4300	6503	SO:0001583	missense	10489			AK024051	CCDS533.1	1p34.1	2008-02-05			ENSG00000132128	ENSG00000132128			16917	protein-coding gene	gene with protein product						11384984	Standard	XM_005270376		Approved	MUF1	uc001cpn.3	Q15345	OTTHUMG00000007810	ENST00000343304.6:c.494G>A	1.37:g.46752035C>T	ENSP00000343298:p.Arg165Gln		A8K5G8|Q3MJ96|Q5TDF5|Q71RA8|Q9BSM0	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.R165Q	ENST00000343304.6	37	c.494	CCDS533.1	1	.	.	.	.	.	.	.	.	.	.	c	15.17	2.755033	0.49362	.	.	ENSG00000132128	ENST00000343304;ENST00000371972	D	0.82711	-1.64	5.08	4.14	0.48551	.	0.523451	0.17507	N	0.171744	T	0.72771	0.3502	N	0.08118	0	0.24823	N	0.992578	P;D;P	0.62365	0.931;0.991;0.815	B;P;B	0.47981	0.112;0.563;0.112	T	0.66842	-0.5821	10	0.40728	T	0.16	-0.3403	14.2858	0.66245	0.0:0.6788:0.3212:0.0	.	165;143;165	Q15345-3;E9PE58;Q15345	.;.;LRC41_HUMAN	Q	165;143	ENSP00000343298:R165Q	ENSP00000343298:R165Q	R	-	2	0	LRRC41	46524622	0.996000	0.38824	0.998000	0.56505	0.996000	0.88848	2.910000	0.48766	2.389000	0.81357	0.430000	0.28490	CGA	LRRC41	-	NULL		0.567	LRRC41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC41	HGNC	protein_coding	OTTHUMT00000021438.1	C	NM_006369		46752035	-1	no_errors	ENST00000343304	ensembl	human	known	70_37	missense	SNP	0.996	T
MAGEB16	139604	genome.wustl.edu	37	X	35820353	35820353	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chrX:35820353C>T	ENST00000399989.1	+	2	319	c.40C>T	c.(40-42)Cag>Tag	p.Q14*	MAGEB16_ENST00000399988.1_Nonsense_Mutation_p.Q14*|MAGEB16_ENST00000399992.1_Nonsense_Mutation_p.Q46*|MAGEB16_ENST00000399987.1_Nonsense_Mutation_p.Q14*|MAGEB16_ENST00000399985.1_Nonsense_Mutation_p.Q14*	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	14										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CACACATGATCAGCACCTTCA	0.567																																																	0													51.0	52.0	52.0					X																	35820353		2117	4213	6330	SO:0001587	stop_gained	139604				CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"""melanoma antigen family B, 16 (pseudogene)"""			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.40C>T	X.37:g.35820353C>T	ENSP00000382871:p.Gln14*		A8MU30	Nonsense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.Q46*	ENST00000399989.1	37	c.136	CCDS43927.1	X	.	.	.	.	.	.	.	.	.	.	C	14.30	2.494557	0.44352	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	.	.	.	3.02	-1.47	0.08772	.	1.435870	0.04322	N	0.350821	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.8724	0.24129	0.1754:0.3438:0.4808:0.0	.	.	.	.	X	14;46;14;14;14	.	ENSP00000382867:Q14X	Q	+	1	0	MAGEB16	35730274	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-0.234000	0.09028	-0.448000	0.07128	-0.362000	0.07510	CAG	MAGEB16	-	pfam_Melanoma_ass_antigen_N		0.567	MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB16	HGNC	protein_coding	OTTHUMT00000251034.1	C			35820353	+1	no_errors	ENST00000399992	ensembl	human	known	70_37	nonsense	SNP	0.000	T
MARCH9	92979	genome.wustl.edu	37	12	58152517	58152517	+	Missense_Mutation	SNP	C	C	G			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr12:58152517C>G	ENST00000266643.5	+	4	1309	c.878C>G	c.(877-879)tCt>tGt	p.S293C	MARCH9_ENST00000548358.1_Missense_Mutation_p.S180C	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	293					protein ubiquitination (GO:0016567)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|trans-Golgi network (GO:0005802)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GGCCCCACCTCTGGGGCCACG	0.637																																																	0													21.0	23.0	22.0					12																	58152517		2200	4296	6496	SO:0001583	missense	92979			BC009489	CCDS31847.1	12q14.1	2013-01-09				ENSG00000139266		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	25139	protein-coding gene	gene with protein product		613336				14722266	Standard	NM_138396		Approved	RNF179, FLJ36578	uc001spx.2	Q86YJ5		ENST00000266643.5:c.878C>G	12.37:g.58152517C>G	ENSP00000266643:p.Ser293Cys		B2R9U9|Q86VN5|Q96GG2	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH	p.S293C	ENST00000266643.5	37	c.878	CCDS31847.1	12	.	.	.	.	.	.	.	.	.	.	C	15.20	2.762650	0.49574	.	.	ENSG00000139266	ENST00000266643;ENST00000548358	T;T	0.33216	2.43;1.42	5.56	5.56	0.83823	.	0.466136	0.17187	U	0.183670	T	0.44265	0.1285	L	0.36672	1.1	0.30773	N	0.742817	D;P	0.55172	0.97;0.662	P;B	0.58013	0.831;0.213	T	0.39210	-0.9625	10	0.72032	D	0.01	.	18.4399	0.90662	0.0:1.0:0.0:0.0	.	180;293	Q86YJ5-2;Q86YJ5	.;MARH9_HUMAN	C	293;180	ENSP00000266643:S293C;ENSP00000446758:S180C	ENSP00000266643:S293C	S	+	2	0	MARCH9	56438784	0.780000	0.28664	0.944000	0.38274	0.998000	0.95712	5.278000	0.65592	2.890000	0.99128	0.655000	0.94253	TCT	MARCH9	-	NULL		0.637	MARCH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCH9	HGNC	protein_coding	OTTHUMT00000409244.1	C	NM_138396		58152517	+1	no_errors	ENST00000266643	ensembl	human	known	70_37	missense	SNP	0.817	G
MB21D2	151963	genome.wustl.edu	37	3	192516720	192516720	+	Missense_Mutation	SNP	G	G	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:192516720G>C	ENST00000392452.2	-	2	1251	c.931C>G	c.(931-933)Cag>Gag	p.Q311E		NM_178496.3	NP_848591.2	Q8IYB1	M21D2_HUMAN	Mab-21 domain containing 2	311							protein complex binding (GO:0032403)	p.Q309E(2)		endometrium(3)|kidney(1)|large_intestine(4)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	31						TTGCAGGCCTGATAGGCCTGC	0.557																																																	2	Substitution - Missense(2)	lung(2)											34.0	35.0	34.0					3																	192516720		2203	4300	6503	SO:0001583	missense	151963			AK056276	CCDS3302.2	3q28-q29	2011-02-23	2011-02-23	2011-02-23	ENSG00000180611	ENSG00000180611			30438	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 59"""	C3orf59		12477932	Standard	NM_178496		Approved		uc011bsp.2	Q8IYB1	OTTHUMG00000155768	ENST00000392452.2:c.931C>G	3.37:g.192516720G>C	ENSP00000376246:p.Gln311Glu		Q86VD8	Missense_Mutation	SNP	pfam_Mab-21_dom	p.Q311E	ENST00000392452.2	37	c.931	CCDS3302.2	3	.	.	.	.	.	.	.	.	.	.	G	14.16	2.453077	0.43531	.	.	ENSG00000180611	ENST00000392452	T	0.07800	3.16	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.10252	0.0251	L	0.51422	1.61	0.80722	D	1	P	0.46784	0.884	B	0.42959	0.403	T	0.07102	-1.0790	10	0.05351	T	0.99	.	18.2403	0.89966	0.0:0.0:1.0:0.0	.	311	Q8IYB1	M21D2_HUMAN	E	311	ENSP00000376246:Q311E	ENSP00000376246:Q311E	Q	-	1	0	MB21D2	193999414	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.869000	0.99810	2.542000	0.85734	0.655000	0.94253	CAG	MB21D2	-	pfam_Mab-21_dom		0.557	MB21D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MB21D2	HGNC	protein_coding	OTTHUMT00000341543.1	G	NM_178496		192516720	-1	no_errors	ENST00000392452	ensembl	human	known	70_37	missense	SNP	1.000	C
MCF2L	23263	genome.wustl.edu	37	13	113741698	113741698	+	Missense_Mutation	SNP	C	C	G			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr13:113741698C>G	ENST00000375608.3	+	23	2671	c.2613C>G	c.(2611-2613)ttC>ttG	p.F871L	MCF2L_ENST00000423482.2_Missense_Mutation_p.F839L|MCF2L_ENST00000375604.2_Missense_Mutation_p.F898L|MCF2L_ENST00000421756.1_Missense_Mutation_p.F845L|MCF2L_ENST00000375597.4_Missense_Mutation_p.F839L|MCF2L_ENST00000397030.1_Missense_Mutation_p.F874L|MCF2L_ENST00000375601.3_Missense_Mutation_p.F845L|MCF2L_ENST00000434480.2_Missense_Mutation_p.F847L|MCF2L_ENST00000535094.2_Missense_Mutation_p.F841L|MCF2L_ENST00000442652.2_Missense_Mutation_p.F871L			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	871	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				apoptotic signaling pathway (GO:0097190)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular space (GO:0005615)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CAGTGCTCTTCTGCAAGAAGA	0.582																																																	0													65.0	51.0	56.0					13																	113741698		2203	4300	6503	SO:0001583	missense	23263			AB002360	CCDS9527.2, CCDS45070.1, CCDS9527.3, CCDS45070.2	13q34	2013-01-10			ENSG00000126217	ENSG00000126217		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14576	protein-coding gene	gene with protein product		609499				9205841	Standard	NM_001112732		Approved	KIAA0362, DBS, OST, ARHGEF14	uc010tjr.2	O15068	OTTHUMG00000017377	ENST00000375608.3:c.2613C>G	13.37:g.113741698C>G	ENSP00000364758:p.Phe871Leu		A2A2X1|A2A2X2|A2A3G6|A2A3G8|B4DHD6|B4DIL6|E9PDN8|Q5JU56|Q5VXT1|Q6ZWD4|Q765G8|Q765G9|Q8N679	Missense_Mutation	SNP	pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.F898L	ENST00000375608.3	37	c.2694		13	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	19.66|19.66|19.66	3.869635|3.869635|3.869635	0.72065|0.72065|0.72065	.|.|.	.|.|.	ENSG00000126217|ENSG00000126217|ENSG00000126217	ENST00000375608;ENST00000442652;ENST00000375604;ENST00000397030;ENST00000535094;ENST00000421756;ENST00000375601;ENST00000434480;ENST00000423482;ENST00000375597;ENST00000440749|ENST00000397017|ENST00000413354;ENST00000261963	T;T;T;T;T;T;T;T;T;T|.|.	0.17854|.|.	2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25|.|.	4.57|4.57|4.57	4.57|4.57|4.57	0.56435|0.56435|0.56435	Pleckstrin homology-type (1);Pleckstrin homology domain (3);|.|.	0.051524|.|.	0.85682|.|.	N|.|.	0.000000|.|.	T|T|T	0.75817|0.75817|0.75817	0.3901|0.3901|0.3901	M|M|M	0.75884|0.75884|0.75884	2.315|2.315|2.315	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D;D;D;D|.|.	0.89917|.|.	1.0;1.0;1.0;1.0;1.0;1.0|.|.	D;D;D;D;D;D|.|.	0.97110|.|.	1.0;1.0;1.0;0.999;0.999;1.0|.|.	T|T|T	0.77300|0.77300|0.77300	-0.2639|-0.2639|-0.2639	10|5|5	0.87932|.|.	D|.|.	0|.|.	.|.|.	17.729|17.729|17.729	0.88372|0.88372|0.88372	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	839;841;898;803;839;871|.|.	E9PDN8;O15068-9;G5E9A1;E2QRA2;O15068-4;O15068|.|.	.;.;.;.;.;MCF2L_HUMAN|.|.	L|V|C	871;871;898;874;841;845;845;847;839;839;682|502|71;12	ENSP00000364758:F871L;ENSP00000401422:F871L;ENSP00000364754:F898L;ENSP00000380225:F874L;ENSP00000440374:F841L;ENSP00000397285:F845L;ENSP00000364751:F845L;ENSP00000407722:F847L;ENSP00000405639:F839L;ENSP00000364747:F839L|.|.	ENSP00000364747:F839L|.|.	F|L|S	+|+|+	3|1|2	2|2|0	MCF2L|MCF2L|MCF2L	112789699|112789699|112789699	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.282000|0.282000|0.282000	0.26991|0.26991|0.26991	7.569000|7.569000|7.569000	0.82380|0.82380|0.82380	2.234000|2.234000|2.234000	0.73211|0.73211|0.73211	0.655000|0.655000|0.655000	0.94253|0.94253|0.94253	TTC|CTG|TCT	MCF2L	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.582	MCF2L-001	KNOWN	basic	protein_coding	MCF2L	HGNC	protein_coding	OTTHUMT00000045849.4	C			113741698	+1	no_errors	ENST00000375604	ensembl	human	known	70_37	missense	SNP	1.000	G
MDH2	4191	genome.wustl.edu	37	7	75689770	75689770	+	Missense_Mutation	SNP	C	C	G			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr7:75689770C>G	ENST00000315758.5	+	5	603	c.509C>G	c.(508-510)aCg>aGg	p.T170R	MDH2_ENST00000443006.1_Missense_Mutation_p.T63R|MDH2_ENST00000432020.2_Intron	NM_005918.2	NP_005909.2	P40926	MDHM_HUMAN	malate dehydrogenase 2, NAD (mitochondrial)	170					carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|internal protein amino acid acetylation (GO:0006475)|malate metabolic process (GO:0006108)|NADH metabolic process (GO:0006734)|oxaloacetate metabolic process (GO:0006107)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	L-malate dehydrogenase activity (GO:0030060)|malate dehydrogenase (NADP+) activity (GO:0046554)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(2)	14						TTCGGCGTGACGACCCTGGAC	0.527																																																	0													145.0	120.0	128.0					7																	75689770		2203	4300	6503	SO:0001583	missense	4191				CCDS5581.1, CCDS64691.1, CCDS75622.1	7q11.23	2013-09-20			ENSG00000146701	ENSG00000146701	1.1.1.37		6971	protein-coding gene	gene with protein product		154100					Standard	NM_005918		Approved		uc003ueo.3	P40926	OTTHUMG00000023827	ENST00000315758.5:c.509C>G	7.37:g.75689770C>G	ENSP00000327070:p.Thr170Arg		A8K414|B2RE78|B4DE44|E9PDB2|O43682	Missense_Mutation	SNP	pfam_Lactate/malate_DH_C,pfam_Lactate/malate_DH_N,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_type1	p.T170R	ENST00000315758.5	37	c.509	CCDS5581.1	7	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675187	0.88445	.	.	ENSG00000146701	ENST00000315758;ENST00000443006	D;D	0.87966	-2.32;-2.32	5.93	5.93	0.95920	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.96027	0.8706	H	0.96518	3.835	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96735	0.9542	10	0.87932	D	0	-27.2939	19.341	0.94340	0.0:1.0:0.0:0.0	.	170	P40926	MDHM_HUMAN	R	170;63	ENSP00000327070:T170R;ENSP00000416929:T63R	ENSP00000327070:T170R	T	+	2	0	MDH2	75527706	1.000000	0.71417	0.974000	0.42286	0.660000	0.38997	7.672000	0.83956	2.815000	0.96918	0.650000	0.86243	ACG	MDH2	-	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,tigrfam_Malate_DH_type1		0.527	MDH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDH2	HGNC	protein_coding	OTTHUMT00000252851.1	C			75689770	+1	no_errors	ENST00000315758	ensembl	human	known	70_37	missense	SNP	1.000	G
MDN1	23195	genome.wustl.edu	37	6	90377756	90377756	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:90377756C>T	ENST00000369393.3	-	84	14186	c.14071G>A	c.(14071-14073)Gac>Aac	p.D4691N	MDN1_ENST00000468568.1_5'Flank|MDN1_ENST00000428876.1_Missense_Mutation_p.D4691N			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4691					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCGATCTGGTCACTCACATCC	0.418																																																	0													271.0	205.0	228.0					6																	90377756		2203	4300	6503	SO:0001583	missense	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.14071G>A	6.37:g.90377756C>T	ENSP00000358400:p.Asp4691Asn		O15019|Q5T794	Missense_Mutation	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.D4691N	ENST00000369393.3	37	c.14071	CCDS5024.1	6	.	.	.	.	.	.	.	.	.	.	C	28.9	4.959411	0.92726	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.04049	3.72;3.72	5.86	5.86	0.93980	.	0.054975	0.64402	D	0.000001	T	0.11580	0.0282	M	0.83012	2.62	0.80722	D	1	P	0.52577	0.954	P	0.50659	0.647	T	0.01596	-1.1316	10	0.45353	T	0.12	.	20.1823	0.98208	0.0:1.0:0.0:0.0	.	4691	Q9NU22	MDN1_HUMAN	N	4691	ENSP00000358400:D4691N;ENSP00000413970:D4691N	ENSP00000358400:D4691N	D	-	1	0	MDN1	90434477	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.818000	0.86416	2.771000	0.95319	0.650000	0.86243	GAC	MDN1	-	superfamily_ARM-type_fold,pirsf_Midasin		0.418	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	C			90377756	-1	no_errors	ENST00000369393	ensembl	human	known	70_37	missense	SNP	1.000	T
MED12L	116931	genome.wustl.edu	37	3	151087234	151087234	+	Missense_Mutation	SNP	C	C	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:151087234C>A	ENST00000474524.1	+	24	3494	c.3456C>A	c.(3454-3456)ttC>ttA	p.F1152L	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.F1012L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1152						mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAAACCTTTCCCTGGAATAA	0.378																																																	0													128.0	130.0	129.0					3																	151087234		2203	4300	6503	SO:0001583	missense	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.3456C>A	3.37:g.151087234C>A	ENSP00000417235:p.Phe1152Leu		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Missense_Mutation	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.F1152L	ENST00000474524.1	37	c.3456	CCDS33876.1	3	.	.	.	.	.	.	.	.	.	.	C	7.645	0.681722	0.14907	.	.	ENSG00000144893	ENST00000474524;ENST00000273432	T;T	0.27890	1.64;1.64	5.8	4.02	0.46733	.	0.309345	0.36932	N	0.002330	T	0.22360	0.0539	L	0.38531	1.155	0.80722	D	1	B;B;B	0.22346	0.024;0.058;0.068	B;B;B	0.21917	0.037;0.01;0.021	T	0.04811	-1.0925	10	0.36615	T	0.2	-29.3152	7.445	0.27207	0.0:0.6454:0.0:0.3546	.	1012;1151;1152	F8WAE6;Q86YW9-4;Q86YW9	.;.;MD12L_HUMAN	L	1152;1012	ENSP00000417235:F1152L;ENSP00000273432:F1012L	ENSP00000273432:F1012L	F	+	3	2	MED12L	152569924	0.399000	0.25287	1.000000	0.80357	0.866000	0.49608	-0.328000	0.07945	0.797000	0.33971	0.585000	0.79938	TTC	MED12L	-	NULL		0.378	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	C	NM_053002		151087234	+1	no_errors	ENST00000474524	ensembl	human	known	70_37	missense	SNP	1.000	A
MEFV	4210	genome.wustl.edu	37	16	3298943	3298943	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr16:3298943C>T	ENST00000219596.1	-	4	1361	c.1322G>A	c.(1321-1323)cGa>cAa	p.R441Q	MEFV_ENST00000339854.4_Missense_Mutation_p.R261Q|MEFV_ENST00000536379.1_Missense_Mutation_p.R230Q|MEFV_ENST00000541159.1_Missense_Mutation_p.R230Q	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	441	Required for homotrimerization and induction of pyroptosomes.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CCCATAGGATCGCTGCTCCTC	0.517																																																	0													201.0	172.0	182.0					16																	3298943		2197	4300	6497	SO:0001583	missense	4210			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.1322G>A	16.37:g.3298943C>T	ENSP00000219596:p.Arg441Gln		D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin	p.R441Q	ENST00000219596.1	37	c.1322	CCDS10498.1	16	.	.	.	.	.	.	.	.	.	.	C	14.05	2.419212	0.42918	.	.	ENSG00000103313	ENST00000545159;ENST00000219596;ENST00000339854;ENST00000541159;ENST00000536379;ENST00000534868	T;T;T;T	0.65732	-0.17;0.25;0.26;0.27	5.5	2.22	0.28083	.	0.481200	0.18825	N	0.130152	T	0.48857	0.1523	L	0.45228	1.405	0.22648	N	0.998894	D	0.58970	0.984	P	0.44860	0.462	T	0.41270	-0.9518	10	0.38643	T	0.18	-15.3933	2.3967	0.04392	0.2259:0.4386:0.0:0.3355	.	441	O15553	MEFV_HUMAN	Q	441;441;261;230;230;230	ENSP00000219596:R441Q;ENSP00000339639:R261Q;ENSP00000438711:R230Q;ENSP00000445079:R230Q	ENSP00000219596:R441Q	R	-	2	0	MEFV	3238944	0.327000	0.24678	0.243000	0.24186	0.013000	0.08279	0.639000	0.24690	0.296000	0.22592	-0.311000	0.09066	CGA	MEFV	-	NULL		0.517	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEFV	HGNC	protein_coding	OTTHUMT00000251464.1	C	NM_000243		3298943	-1	no_errors	ENST00000219596	ensembl	human	known	70_37	missense	SNP	0.394	T
MEMO1	51072	genome.wustl.edu	37	2	32095023	32095024	+	Splice_Site	INS	-	-	A	rs76850690		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr2:32095023_32095024insA	ENST00000295065.5	-	8	967		c.e8-2		MEMO1_ENST00000404530.1_Splice_Site|MEMO1_ENST00000426310.2_Splice_Site|MEMO1_ENST00000490459.1_Splice_Site|DPY30_ENST00000446765.1_Splice_Site|MEMO1_ENST00000379383.3_Splice_Site	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1						regulation of microtubule-based process (GO:0032886)	cytosol (GO:0005829)|nucleus (GO:0005634)				NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					ACTCATACCCTaaaaaaaaaaa	0.252																																																	0																																										SO:0001630	splice_region_variant	51072			AF132961	CCDS1776.1, CCDS46255.1	2p22-p21	2010-05-24	2007-02-12	2007-02-12	ENSG00000162959	ENSG00000162959			14014	protein-coding gene	gene with protein product		611786	"""chromosome 2 open reading frame 4"""	C2orf4		15156151	Standard	NM_015955		Approved	CGI-27, MEMO	uc002rnx.3	Q9Y316	OTTHUMG00000128453	ENST00000295065.5:c.658-2->T	2.37:g.32095034_32095034dupA			B4DLS0|D6W575|Q5R2V8|Q5R2V9|Q6NSL5	Splice_Site	INS	-	e8-2	ENST00000295065.5	37	c.667-3_667-2	CCDS1776.1	2																																																																																			MEMO1	-	-		0.252	MEMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEMO1	HGNC	protein_coding	OTTHUMT00000250251.2	-	NM_015955	Intron	32095024	-1	no_errors	ENST00000379383	ensembl	human	known	70_37	splice_site_ins	INS	1.000:0.998	A
MFSD4	148808	genome.wustl.edu	37	1	205553173	205553173	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:205553173G>A	ENST00000367147.4	+	4	874	c.781G>A	c.(781-783)Gat>Aat	p.D261N	MFSD4_ENST00000536357.1_Missense_Mutation_p.D174N|MFSD4_ENST00000539267.1_Missense_Mutation_p.D261N	NM_181644.4	NP_857595.3	Q8N468	MFSD4_HUMAN	major facilitator superfamily domain containing 4	261					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			TCTGTCTGCTGATGAGCTTGC	0.587																																																	0													76.0	76.0	76.0					1																	205553173		2203	4300	6503	SO:0001583	missense	148808			BC036549	CCDS1455.1	1q32.1	2008-02-05			ENSG00000174514	ENSG00000174514			25433	protein-coding gene	gene with protein product							Standard	NM_181644		Approved	DKFZp761N1114, FLJ34577, UNQ3064, FLJ25004	uc001hcv.4	Q8N468	OTTHUMG00000037197	ENST00000367147.4:c.781G>A	1.37:g.205553173G>A	ENSP00000356115:p.Asp261Asn		B7Z8X3|Q6UY25|Q8NAY0|Q8TCP4	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.D261N	ENST00000367147.4	37	c.781	CCDS1455.1	1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.971377	0.92919	.	.	ENSG00000174514	ENST00000367147;ENST00000539267;ENST00000536357	D;D;D	0.82081	-1.57;-1.57;-1.57	5.57	5.57	0.84162	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.90010	0.6881	M	0.74881	2.28	0.80722	D	1	D;D;D	0.89917	0.999;0.995;1.0	D;P;D	0.70935	0.947;0.889;0.971	D	0.86976	0.2101	10	0.20046	T	0.44	-27.474	18.1107	0.89534	0.0:0.0:1.0:0.0	.	206;174;261	B7Z8X0;B7Z8X3;Q8N468	.;.;MFSD4_HUMAN	N	261;261;174	ENSP00000356115:D261N;ENSP00000445329:D261N;ENSP00000440183:D174N	ENSP00000356115:D261N	D	+	1	0	MFSD4	203819796	1.000000	0.71417	0.637000	0.29366	0.928000	0.56348	9.246000	0.95438	2.619000	0.88677	0.561000	0.74099	GAT	MFSD4	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.587	MFSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFSD4	HGNC	protein_coding	OTTHUMT00000090391.1	G	NM_181644		205553173	+1	no_errors	ENST00000367147	ensembl	human	known	70_37	missense	SNP	1.000	A
GLIDR	389741	genome.wustl.edu	37	9	66553736	66553736	+	lincRNA	SNP	C	C	T	rs17852433		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr9:66553736C>T	ENST00000305709.5	+	0	349				RP11-262H14.3_ENST00000445604.2_lincRNA	NR_015363.1																						GTCCGTTTTCCGCTGCCGCTG	0.582																																																	0																																												0																															9.37:g.66553736C>T				RNA	SNP	-	NULL	ENST00000305709.5	37	NULL		9	.	.	.	.	.	.	.	.	.	.	.	5.414	0.261494	0.10239	.	.	ENSG00000170161	ENST00000305709	.	.	.	.	.	.	.	.	.	.	.	T	0.48822	0.1521	.	.	.	.	.	.	.	.	.	.	.	.	T	0.59150	-0.7508	2	0.87932	D	0	.	.	.	.	rs17852433	.	.	.	L	63	.	ENSP00000303136:P63L	P	+	2	0	RP11-262H14.4	66293556	0.040000	0.19996	0.106000	0.21319	0.108000	0.19459	0.239000	0.18023	0.149000	0.19098	0.152000	0.16155	CCG	RP11-262H14.4	-	-		0.582	RP11-262H14.4-001	KNOWN	basic	lincRNA	MGC21881	Clone_based_vega_gene	lincRNA	OTTHUMT00000037077.1	C			66553736	+1	no_errors	ENST00000305709	ensembl	human	known	70_37	rna	SNP	0.118	T
MIA3	375056	genome.wustl.edu	37	1	222826431	222826431	+	Missense_Mutation	SNP	G	G	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:222826431G>C	ENST00000344922.5	+	14	4193	c.4168G>C	c.(4168-4170)Gat>Cat	p.D1390H	MIA3_ENST00000340535.7_Missense_Mutation_p.D268H|MIA3_ENST00000344441.6_Missense_Mutation_p.D1390H|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1390					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GTCTCAGAAAGATTTGGAAGT	0.338																																																	0													108.0	96.0	100.0					1																	222826431		1838	4093	5931	SO:0001583	missense	375056				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.4168G>C	1.37:g.222826431G>C	ENSP00000340900:p.Asp1390His		A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain	p.D1390H	ENST00000344922.5	37	c.4168	CCDS41470.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.80|17.80	3.478397|3.478397	0.63849|0.63849	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831;ENST00000340535;ENST00000284471|ENST00000354906	T;T;T|.	0.71817|.	-0.6;-0.6;1.14|.	5.8|5.8	4.87|4.87	0.63330|0.63330	.|.	.|.	.|.	.|.	.|.	T|T	0.72358|0.72358	0.3450|0.3450	M|M	0.71036|0.71036	2.16|2.16	0.38830|0.38830	D|D	0.95583|0.95583	D;P;D|.	0.89917|.	1.0;0.734;0.994|.	D;B;P|.	0.71870|.	0.975;0.275;0.804|.	T|T	0.74444|0.74444	-0.3663|-0.3663	9|5	0.22706|.	T|.	0.39|.	.|.	14.0485|14.0485	0.64719|0.64719	0.0752:0.0:0.9247:0.0|0.0752:0.0:0.9247:0.0	.|.	1331;268;1390|.	Q5JRA6-2;Q5JRA6-4;Q5JRA6|.	.;.;MIA3_HUMAN|.	H|T	1390;1390;1331;268;268|913	ENSP00000340900:D1390H;ENSP00000340587:D1390H;ENSP00000345866:D268H|.	ENSP00000284471:D268H|.	D|R	+|+	1|2	0|0	MIA3|MIA3	220893054|220893054	1.000000|1.000000	0.71417|0.71417	0.150000|0.150000	0.22450|0.22450	0.944000|0.944000	0.59088|0.59088	4.730000|4.730000	0.62015|0.62015	1.379000|1.379000	0.46325|0.46325	0.557000|0.557000	0.71058|0.71058	GAT|AGA	MIA3	-	NULL		0.338	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	HGNC	protein_coding	OTTHUMT00000091489.4	G	NM_198551		222826431	+1	no_errors	ENST00000344441	ensembl	human	known	70_37	missense	SNP	1.000	C
MPHOSPH9	10198	genome.wustl.edu	37	12	123645783	123645783	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr12:123645783G>A	ENST00000606320.1	-	22	3487	c.3281C>T	c.(3280-3282)tCa>tTa	p.S1094L	MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.S942L|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.S1064L|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.S942L			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	1094						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TGGAGTGACTGAAACCGGCTT	0.423																																																	0													122.0	112.0	115.0					12																	123645783		2203	4300	6503	SO:0001583	missense	10198			X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.3281C>T	12.37:g.123645783G>A	ENSP00000475489:p.Ser1094Leu		A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	superfamily_Prefoldin	p.S942L	ENST00000606320.1	37	c.2825		12	.	.	.	.	.	.	.	.	.	.	G	16.48	3.135557	0.56828	.	.	ENSG00000051825	ENST00000541603;ENST00000302349;ENST00000541076	T;T;T	0.45668	0.89;1.51;1.5	5.58	3.75	0.43078	.	1.301910	0.05671	N	0.588704	T	0.29749	0.0743	L	0.38175	1.15	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.31024	-0.9958	10	0.10636	T	0.68	-0.1257	3.1242	0.06401	0.1269:0.1259:0.4871:0.2601	.	942	Q99550	MPP9_HUMAN	L	120;942;942	ENSP00000446362:S120L;ENSP00000303597:S942L;ENSP00000445859:S942L	ENSP00000303597:S942L	S	-	2	0	MPHOSPH9	122211736	0.002000	0.14202	0.002000	0.10522	0.940000	0.58332	1.251000	0.32862	0.719000	0.32188	0.563000	0.77884	TCA	MPHOSPH9	-	NULL		0.423	MPHOSPH9-030	NOVEL	basic	protein_coding	MPHOSPH9	HGNC	protein_coding	OTTHUMT00000471390.2	G			123645783	-1	no_errors	ENST00000541076	ensembl	human	known	70_37	missense	SNP	0.000	A
MPHOSPH9	10198	genome.wustl.edu	37	12	123702982	123702982	+	Missense_Mutation	SNP	C	C	G			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr12:123702982C>G	ENST00000606320.1	-	6	1143	c.937G>C	c.(937-939)Gat>Cat	p.D313H	MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.D161H|MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.D283H|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.D161H			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	313						centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GAACCTCCATCTTCTACATGT	0.378																																																	0													261.0	226.0	238.0					12																	123702982		2203	4300	6503	SO:0001583	missense	10198			X98258	CCDS9243.1, CCDS9243.2	12q24	2008-03-03			ENSG00000051825	ENSG00000051825			7215	protein-coding gene	gene with protein product		605501				8885239	Standard	NM_022782		Approved	MPP9	uc001uel.3	Q99550	OTTHUMG00000168849	ENST00000606320.1:c.937G>C	12.37:g.123702982C>G	ENSP00000475489:p.Asp313His		A1L486|A6NEE2|B3KR87|Q9H976|U3KQ28	Missense_Mutation	SNP	superfamily_Prefoldin	p.D161H	ENST00000606320.1	37	c.481		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.258329|4.258329	0.80246|0.80246	.|.	.|.	ENSG00000051825|ENSG00000257076	ENST00000302349;ENST00000541076|ENST00000539336	T;T|.	0.35973|.	1.28;1.29|.	4.93|4.93	4.03|4.03	0.46877|0.46877	.|.	0.422615|.	0.24059|.	N|.	0.041937|.	T|T	0.58075|0.58075	0.2097|0.2097	L|L	0.43152|0.43152	1.355|1.355	0.37451|0.37451	D|D	0.914814|0.914814	P|.	0.45176|.	0.852|.	P|.	0.49301|.	0.606|.	T|T	0.60601|0.60601	-0.7231|-0.7231	10|5	0.72032|.	D|.	0.01|.	-8.6613|-8.6613	13.0009|13.0009	0.58673|0.58673	0.1616:0.8384:0.0:0.0|0.1616:0.8384:0.0:0.0	.|.	161|.	Q99550|.	MPP9_HUMAN|.	H|T	161|170	ENSP00000303597:D161H;ENSP00000445859:D161H|.	ENSP00000303597:D161H|.	D|R	-|-	1|2	0|0	MPHOSPH9|RP11-546D6.2	122268935|122268935	0.997000|0.997000	0.39634|0.39634	0.040000|0.040000	0.18447|0.18447	0.583000|0.583000	0.36354|0.36354	2.082000|2.082000	0.41605|0.41605	1.194000|1.194000	0.43101|0.43101	0.555000|0.555000	0.69702|0.69702	GAT|AGA	MPHOSPH9	-	NULL		0.378	MPHOSPH9-030	NOVEL	basic	protein_coding	MPHOSPH9	HGNC	protein_coding	OTTHUMT00000471390.2	C			123702982	-1	no_errors	ENST00000541076	ensembl	human	known	70_37	missense	SNP	0.956	G
MS4A12	54860	genome.wustl.edu	37	11	60265180	60265180	+	Intron	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr11:60265180C>T	ENST00000016913.4	+	2	333				MS4A12_ENST00000537076.1_Intron|MS4A12_ENST00000525951.1_3'UTR	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12							integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						CTGAAATTATCTCTTTTAGAC	0.323																																																	0																																										SO:0001627	intron_variant	54860			AK000224	CCDS7988.1, CCDS53638.1	11q12	2008-03-25				ENSG00000071203			13370	protein-coding gene	gene with protein product		606550				11401424, 11486273	Standard	NM_017716		Approved	Ms4a10, FLJ20217	uc001npr.3	Q9NXJ0		ENST00000016913.4:c.276+113C>T	11.37:g.60265180C>T			F5GX98|Q8N6L4	RNA	SNP	-	NULL	ENST00000016913.4	37	NULL	CCDS7988.1	11																																																																																			MS4A12	-	-		0.323	MS4A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A12	HGNC	protein_coding	OTTHUMT00000383627.1	C			60265180	+1	no_errors	ENST00000525951	ensembl	human	known	70_37	rna	SNP	0.000	T
MST1L	11223	genome.wustl.edu	37	1	17085591	17085591	+	RNA	SNP	C	C	T	rs371449598		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:17085591C>T	ENST00000455405.2	-	0	0							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)	p.Q376_R377delQR(1)|p.Q366_R367delQR(1)									AGCGGACCAGCGCTGGCACTG	0.706																																																	2	Deletion - In frame(2)	breast(2)																																										11223			U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17085591C>T			B7WPB1|Q13209	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.R377H	ENST00000455405.2	37	c.1130		1	.	.	.	.	.	.	.	.	.	.	.	6.816	0.519686	0.13005	.	.	ENSG00000186715	ENST00000389184;ENST00000334998;ENST00000442552	.	.	.	.	.	.	.	1.304990	0.05479	N	0.554513	T	0.26846	0.0657	.	.	.	.	.	.	B	0.16166	0.016	B	0.08055	0.003	T	0.23048	-1.0199	6	0.45353	T	0.12	.	2.6652	0.05046	0.0:0.5:0.0:0.5	.	377	Q2TV78-2	.	H	367;377;377	.	ENSP00000439273:R377H	R	-	2	0	MST1P9	16958178	0.442000	0.25633	0.000000	0.03702	0.000000	0.00434	0.203000	0.17315	-0.000000	0.14550	0.000000	0.15137	CGC	MST1L	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle		0.706	MST1L-002	KNOWN	basic	processed_transcript	MST1L	HGNC	pseudogene	OTTHUMT00000400328.1	C	NM_001271733		17085591	-1	no_errors	ENST00000334998	ensembl	human	known	70_37	missense	SNP	0.998	T
MT-ND5	4540	genome.wustl.edu	37	M	12397	12397	+	Missense_Mutation	SNP	A	A	G			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chrM:12397A>G	ENST00000361567.2	+	1	61	c.61A>G	c.(61-63)Acc>Gcc	p.T21A	MT-TR_ENST00000387439.1_RNA|MT-TH_ENST00000387441.1_RNA|MT-TE_ENST00000387459.1_RNA|MT-TG_ENST00000387429.1_RNA|MT-TS2_ENST00000387449.1_RNA|MT-CYB_ENST00000361789.2_5'Flank|MT-TL2_ENST00000387456.1_RNA			P03915	NU5M_HUMAN	mitochondrially encoded NADH dehydrogenase 5	21					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			breast(4)|endometrium(29)|kidney(33)|pancreas(1)|prostate(7)	74						CCCCCATCCTTACCACCCTCG	0.408																																																	0																																										SO:0001583	missense	4540					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198786	ENSG00000198786	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7461	protein-coding gene	gene with protein product	"""complex I ND5 subunit"", ""NADH-ubiquinone oxidoreductase chain 5"""	516005	"""NADH dehydrogenase 5"""	MTND5			Standard			Approved	ND5, NAD5		P03915		ENST00000361567.2:c.61A>G	M.37:g.12397A>G	ENSP00000354813:p.Thr21Ala		Q34773|Q8WCY3	Missense_Mutation	SNP	pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5	p.T21A	ENST00000361567.2	37	c.61		MT																																																																																			MT-ND5	-	tigrfam_NADHpl_OxRdtase_5		0.408	MT-ND5-201	KNOWN	basic|appris_principal	protein_coding	MT-ND5	HGNC	protein_coding		A	YP_003024036		12397	+1	no_errors	ENST00000361567	ensembl	human	known	70_37	missense	SNP	NULL	G
MTMR11	10903	genome.wustl.edu	37	1	149900659	149900659	+	3'UTR	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:149900659G>A	ENST00000439741.2	-	0	2742				MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_3'UTR|MTMR11_ENST00000406732.3_3'UTR|SF3B4_ENST00000271628.8_5'Flank|MTMR11_ENST00000369140.3_3'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11								phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TATAAGGGAAGAAATAGAACT	0.413																																																	0																																										SO:0001624	3_prime_UTR_variant	10903			AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.*362C>T	1.37:g.149900659G>A			B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	RNA	SNP	-	NULL	ENST00000439741.2	37	NULL	CCDS53360.1	1																																																																																			MTMR11	-	-		0.413	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MTMR11	HGNC	protein_coding		G	NM_181873		149900659	-1	no_errors	ENST00000466496	ensembl	human	known	70_37	rna	SNP	0.601	A
MUC5B	727897	genome.wustl.edu	37	11	1269691	1269691	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr11:1269691C>T	ENST00000529681.1	+	31	11639	c.11581C>T	c.(11581-11583)Cac>Tac	p.H3861Y	MUC5B_ENST00000447027.1_Missense_Mutation_p.H3864Y|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3861	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGGAACAGCTCACACTACCAA	0.637																																																	0													111.0	128.0	123.0					11																	1269691		2068	4194	6262	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11581C>T	11.37:g.1269691C>T	ENSP00000436812:p.His3861Tyr		O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.H3864Y	ENST00000529681.1	37	c.11590	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	C	2.076	-0.411810	0.04799	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.17054	2.3;2.49	2.54	-5.08	0.02929	.	.	.	.	.	T	0.05410	0.0143	N	0.03608	-0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.32955	-0.9887	9	0.87932	D	0	.	1.0543	0.01586	0.2424:0.289:0.2848:0.1838	.	4389;3864	A7Y9J9;E9PBJ0	.;.	Y	3861;3864;3805;3766	ENSP00000436812:H3861Y;ENSP00000415793:H3864Y	ENSP00000343037:H3805Y	H	+	1	0	MUC5B	1226267	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.000000	0.12993	-1.879000	0.01126	-1.050000	0.02344	CAC	MUC5B	-	NULL		0.637	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1269691	+1	no_errors	ENST00000447027	ensembl	human	known	70_37	missense	SNP	0.000	T
MUM1	84939	genome.wustl.edu	37	19	1358418	1358418	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:1358418G>A	ENST00000415183.3	+	3	198	c.172G>A	c.(172-174)Gag>Aag	p.E58K	MUM1_ENST00000591806.1_Missense_Mutation_p.E58K|MUM1_ENST00000311401.5_5'UTR|MUM1_ENST00000344663.3_Missense_Mutation_p.E58K			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	57					chromatin organization (GO:0006325)|DNA repair (GO:0006281)	nucleus (GO:0005634)	nucleosome binding (GO:0031491)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACTGAAGTTGAGATCCTAGA	0.403																																																	0													150.0	151.0	151.0					19																	1358418		2203	4300	6503	SO:0001583	missense	84939			AK075241	CCDS12062.1	19p13.3	2008-02-05				ENSG00000160953			29641	protein-coding gene	gene with protein product						11042152, 7644523	Standard	NM_032853		Approved	MUM-1	uc002lrz.2	Q2TAK8		ENST00000415183.3:c.172G>A	19.37:g.1358418G>A	ENSP00000394925:p.Glu58Lys		A1L489|B5ME02|B7ZLY8|J3KQD6|Q13109|Q5XKB9|Q8N2I4|Q96A67	Missense_Mutation	SNP	pfam_PWWP	p.E58K	ENST00000415183.3	37	c.172		19	.	.	.	.	.	.	.	.	.	.	G	1.273	-0.612413	0.03690	.	.	ENSG00000160953	ENST00000344663;ENST00000415183	T;T	0.31247	1.5;1.5	4.65	-7.25	0.01470	.	0.780557	0.11175	N	0.591582	T	0.08268	0.0206	N	0.04203	-0.255	0.09310	N	0.999995	B;B	0.14438	0.004;0.01	B;B	0.12837	0.004;0.008	T	0.35151	-0.9800	10	0.02654	T	1	.	6.1799	0.20465	0.271:0.2524:0.4765:0.0	.	58;57	B7ZLY8;Q2TAK8	.;MUM1_HUMAN	K	58	ENSP00000345789:E58K;ENSP00000394925:E58K	ENSP00000345789:E58K	E	+	1	0	MUM1	1309418	0.000000	0.05858	0.000000	0.03702	0.484000	0.33280	-0.589000	0.05767	-1.118000	0.02961	0.313000	0.20887	GAG	MUM1	-	NULL		0.403	MUM1-016	NOVEL	basic|exp_conf	protein_coding	MUM1	HGNC	protein_coding	OTTHUMT00000449510.1	G	NM_032853		1358418	+1	no_errors	ENST00000344663	ensembl	human	known	70_37	missense	SNP	0.000	A
MUTYH	4595	genome.wustl.edu	37	1	45805915	45805915	+	Silent	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:45805915G>A	ENST00000372098.3	-	1	145	c.12C>T	c.(10-12)ctC>ctT	p.L4L	MUTYH_ENST00000528332.2_Silent_p.L4L|MUTYH_ENST00000372110.3_Silent_p.L4L|MUTYH_ENST00000355498.2_5'Flank|MUTYH_ENST00000372104.1_5'Flank|TOE1_ENST00000539779.1_5'UTR|MUTYH_ENST00000456914.2_5'Flank|MUTYH_ENST00000448481.1_5'Flank|MUTYH_ENST00000372115.3_Silent_p.L4L|MUTYH_ENST00000528013.2_5'Flank|MUTYH_ENST00000372100.5_5'Flank|MUTYH_ENST00000531105.1_5'Flank|TOE1_ENST00000495703.1_3'UTR|TOE1_ENST00000372090.5_5'UTR|MUTYH_ENST00000529984.1_5'UTR|MUTYH_ENST00000450313.1_Silent_p.L4L|MUTYH_ENST00000354383.6_5'Flank|MUTYH_ENST00000488731.2_5'Flank			Q9UIF7	MUTYH_HUMAN	mutY homolog	4					base-excision repair (GO:0006284)|base-excision repair, AP site formation (GO:0006285)|depurination (GO:0045007)|DNA repair (GO:0006281)|mismatch repair (GO:0006298)	mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|metal ion binding (GO:0046872)|MutSalpha complex binding (GO:0032407)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GGCGGGAGACGAGCGGTGTCA	0.677			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis																														yes	Rec		Adenomatous polyposis coli	1	1p34.3-1p32.1	4595	mutY homolog (E. coli)		E	0													50.0	45.0	47.0					1																	45805915		2202	4300	6502	SO:0001819	synonymous_variant	4595	Familial Cancer Database	MAP, MYH-associated polyposis	U63329	CCDS520.1, CCDS41320.1, CCDS41321.1, CCDS41322.1, CCDS72776.1, CCDS72777.1	1p34.1	2014-09-17	2013-09-12		ENSG00000132781	ENSG00000132781			7527	protein-coding gene	gene with protein product		604933	"""mutY (E. coli) homolog"", ""mutY homolog (E. coli)"""			7823963, 10684930	Standard	NM_012222		Approved	MYH	uc009vxp.3	Q9UIF7	OTTHUMG00000007682	ENST00000372098.3:c.12C>T	1.37:g.45805915G>A			D3DPZ4|Q15830|Q9UBP2|Q9UBS7|Q9UIF4|Q9UIF5|Q9UIF6	Silent	SNP	pfam_HhH-GPD_domain,superfamily_DNA_glycosylase,superfamily_NUDIX_hydrolase_dom-like,smart_HhH-GPD_domain,smart_Endouclease3_FeS-loop_motif	p.L4	ENST00000372098.3	37	c.12	CCDS520.1	1																																																																																			MUTYH	-	NULL		0.677	MUTYH-002	KNOWN	basic|CCDS	protein_coding	MUTYH	HGNC	protein_coding	OTTHUMT00000020529.1	G	NM_012222		45805915	-1	no_errors	ENST00000450313	ensembl	human	known	70_37	silent	SNP	0.001	A
MVD	4597	genome.wustl.edu	37	16	88723974	88723974	+	Silent	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr16:88723974C>T	ENST00000301012.3	-	4	302	c.273G>A	c.(271-273)cgG>cgA	p.R91R	MVD_ENST00000568709.1_5'UTR	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	91					cellular protein metabolic process (GO:0044267)|cholesterol biosynthetic process (GO:0006695)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|positive regulation of cell proliferation (GO:0008284)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|diphosphomevalonate decarboxylase activity (GO:0004163)|Hsp70 protein binding (GO:0030544)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TCCTCCGCTTCCGGGCCAGGC	0.692																																																	0													40.0	37.0	38.0					16																	88723974		2198	4300	6498	SO:0001819	synonymous_variant	4597			U49260	CCDS10968.1	16q24.3	2010-04-29			ENSG00000167508	ENSG00000167508	4.1.1.33		7529	protein-coding gene	gene with protein product	"""mevalonate pyrophosphate decarboxylase"""	603236				8626466	Standard	NM_002461		Approved	MPD	uc002flg.1	P53602	OTTHUMG00000137865	ENST00000301012.3:c.273G>A	16.37:g.88723974C>T			Q53Y65	Silent	SNP	pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Mev_diP_decarb,tigrfam_Mev_diP_decarb	p.R91	ENST00000301012.3	37	c.273	CCDS10968.1	16																																																																																			MVD	-	superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Mev_diP_decarb,tigrfam_Mev_diP_decarb		0.692	MVD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MVD	HGNC	protein_coding	OTTHUMT00000269547.2	C	NM_002461		88723974	-1	no_errors	ENST00000301012	ensembl	human	known	70_37	silent	SNP	0.278	T
MYH16	84176	genome.wustl.edu	37	7	98902340	98902340	+	IGR	SNP	G	G	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr7:98902340G>C								MYH16 (46561 upstream) : ARPC1A (21180 downstream)																							AGCTGGCTCTGAAAGGCGGCA	0.597																																																	0																																										SO:0001628	intergenic_variant	84176																															7.37:g.98902340G>C				RNA	SNP	-	NULL		37	NULL		7																																																																																			MYH16	-	-	0	0.597					MYH16	HGNC			G			98902340	+1	no_errors	ENST00000453378	ensembl	human	known	70_37	rna	SNP	1.000	C
MYH4	4622	genome.wustl.edu	37	17	10364245	10364245	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr17:10364245C>T	ENST00000255381.2	-	12	1245	c.1135G>A	c.(1135-1137)Gat>Aat	p.D379N	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	379	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|membrane organization (GO:0061024)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to activity (GO:0014823)	muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|microfilament motor activity (GO:0000146)			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCCGTGCCATCTGGCTCTGCC	0.478																																																	0													189.0	165.0	173.0					17																	10364245		2203	4300	6503	SO:0001583	missense	4622				CCDS11154.1	17p13.1	2013-09-19	2006-09-29		ENSG00000264424	ENSG00000264424		"""Myosins / Myosin superfamily : Class II"""	7574	protein-coding gene	gene with protein product		160742	"""myosin, heavy polypeptide 4, skeletal muscle"""			8518795	Standard	NM_017533		Approved	MYH2B, MyHC-2B, MyHC-IIb	uc002gmn.3	Q9Y623	OTTHUMG00000130365	ENST00000255381.2:c.1135G>A	17.37:g.10364245C>T	ENSP00000255381:p.Asp379Asn			Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D379N	ENST00000255381.2	37	c.1135	CCDS11154.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.502757	0.96371	.	.	ENSG00000141048	ENST00000255381	D	0.87650	-2.28	5.49	5.49	0.81192	Myosin head, motor domain (2);	0.000000	0.38605	U	0.001638	D	0.94275	0.8161	M	0.88775	2.98	0.80722	D	1	P	0.42078	0.77	P	0.57502	0.822	D	0.94529	0.7734	10	0.87932	D	0	.	19.7262	0.96165	0.0:1.0:0.0:0.0	.	379	Q9Y623	MYH4_HUMAN	N	379	ENSP00000255381:D379N	ENSP00000255381:D379N	D	-	1	0	MYH4	10304970	1.000000	0.71417	0.969000	0.41365	0.882000	0.50991	7.770000	0.85390	2.726000	0.93360	0.650000	0.86243	GAT	MYH4	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.478	MYH4-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	MYH4	HGNC	protein_coding	OTTHUMT00000252731.1	C	NM_017533		10364245	-1	no_errors	ENST00000255381	ensembl	human	known	70_37	missense	SNP	1.000	T
MYO18A	399687	genome.wustl.edu	37	17	27438756	27438756	+	Silent	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr17:27438756C>T	ENST00000527372.1	-	16	2904	c.2724G>A	c.(2722-2724)caG>caA	p.Q908Q	MYO18A_ENST00000531253.1_Silent_p.Q908Q|MYO18A_ENST00000533112.1_Silent_p.Q908Q|MYO18A_ENST00000354329.4_Silent_p.Q908Q	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	908	Myosin motor.				actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TGTCACCTTCCTGGGGGCCAT	0.612											OREG0024287	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(182;472 2015 7001 15270 22562)												0													46.0	51.0	49.0					17																	27438756		1898	4116	6014	SO:0001819	synonymous_variant	399687			D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.2724G>A	17.37:g.27438756C>T		794	Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom	p.Q908	ENST00000527372.1	37	c.2724	CCDS45642.1	17																																																																																			MYO18A	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.612	MYO18A-001	KNOWN	basic|CCDS	protein_coding	MYO18A	HGNC	protein_coding	OTTHUMT00000389396.1	C	NM_078471		27438756	-1	no_errors	ENST00000354329	ensembl	human	known	70_37	silent	SNP	1.000	T
MYOT	9499	genome.wustl.edu	37	5	137211606	137211606	+	Missense_Mutation	SNP	G	G	A	rs71578935		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr5:137211606G>A	ENST00000239926.4	+	3	819	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	MYOT_ENST00000509812.1_3'UTR|RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000421631.2_5'UTR|MYOT_ENST00000515645.1_Missense_Mutation_p.E34K	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	149	Necessary for interaction with ACTN1.				muscle contraction (GO:0006936)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	structural constituent of muscle (GO:0008307)			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCCTGATCATGAAATACAAGG	0.403																																																	0													116.0	113.0	114.0					5																	137211606		2203	4300	6503	SO:0001583	missense	9499			AF133820	CCDS4194.1, CCDS47268.1, CCDS75309.1	5q31.2	2014-09-17	2005-09-07	2005-09-07	ENSG00000120729	ENSG00000120729		"""Immunoglobulin superfamily / I-set domain containing"""	12399	protein-coding gene	gene with protein product		604103	"""titin immunoglobulin domain protein (myotilin)"", ""limb-girdle muscular dystrophy 1A (autosomal dominant)"""	TTID, LGMD1A, LGMD1		10486214, 10369880	Standard	NM_006790		Approved		uc003lbv.3	Q9UBF9	OTTHUMG00000129154	ENST00000239926.4:c.445G>A	5.37:g.137211606G>A	ENSP00000239926:p.Glu149Lys		A0A4R6|B4DT79	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E149K	ENST00000239926.4	37	c.445	CCDS4194.1	5	.	.	.	.	.	.	.	.	.	.	G	35	5.419165	0.96092	.	.	ENSG00000120729	ENST00000239926;ENST00000515645	T;T	0.74526	-0.64;-0.85	5.71	5.71	0.89125	.	0.078523	0.52532	D	0.000066	T	0.75510	0.3859	L	0.53249	1.67	0.39979	D	0.974898	P	0.52842	0.956	P	0.49999	0.628	T	0.71220	-0.4657	10	0.06494	T	0.89	.	19.8546	0.96752	0.0:0.0:1.0:0.0	.	149	Q9UBF9	MYOTI_HUMAN	K	149;34	ENSP00000239926:E149K;ENSP00000426281:E34K	ENSP00000239926:E149K	E	+	1	0	MYOT	137239505	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.987000	0.88182	2.697000	0.92050	0.655000	0.94253	GAA	MYOT	-	NULL		0.403	MYOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOT	HGNC	protein_coding	OTTHUMT00000251219.2	G	NM_006790		137211606	+1	no_errors	ENST00000239926	ensembl	human	known	70_37	missense	SNP	1.000	A
NAA25	80018	genome.wustl.edu	37	12	112491435	112491435	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr12:112491435G>A	ENST00000261745.4	-	15	1903	c.1655C>T	c.(1654-1656)tCt>tTt	p.S552F		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	552						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CTGACCTAGAGATTCAGCATA	0.363																																																	0													60.0	55.0	56.0					12																	112491435		2203	4300	6503	SO:0001583	missense	80018			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.1655C>T	12.37:g.112491435G>A	ENSP00000261745:p.Ser552Phe		A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Missense_Mutation	SNP	pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom	p.S552F	ENST00000261745.4	37	c.1655	CCDS9159.1	12	.	.	.	.	.	.	.	.	.	.	G	33	5.251094	0.95305	.	.	ENSG00000111300	ENST00000261745	T	0.50001	0.76	5.99	5.99	0.97316	Tetratricopeptide-like helical (1);	0.172248	0.53938	D	0.000058	T	0.63224	0.2493	L	0.59436	1.845	0.80722	D	1	P;P	0.47484	0.896;0.896	P;P	0.55455	0.776;0.678	T	0.59547	-0.7434	10	0.51188	T	0.08	-11.0531	20.4777	0.99188	0.0:0.0:1.0:0.0	.	552;552	A8K8X0;Q14CX7	.;NAA25_HUMAN	F	552	ENSP00000261745:S552F	ENSP00000261745:S552F	S	-	2	0	NAA25	110975818	1.000000	0.71417	0.996000	0.52242	0.977000	0.68977	9.414000	0.97362	2.840000	0.97914	0.655000	0.94253	TCT	NAA25	-	pfam_N-acetylTrfase_B_cplx_non-cat		0.363	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA25	HGNC	protein_coding	OTTHUMT00000405205.1	G	NM_024953		112491435	-1	no_errors	ENST00000261745	ensembl	human	known	70_37	missense	SNP	0.985	A
NAT8	9027	genome.wustl.edu	37	2	73868749	73868749	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr2:73868749G>A	ENST00000272425.3	-	2	156	c.7C>T	c.(7-9)Cct>Tct	p.P3S		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2			N-acetyltransferase 8 (GCN5-related, putative)											breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						ATGTGACAAGGAGCCATGGAC	0.572																																																	0													48.0	55.0	52.0					2																	73868749		2180	4288	6468	SO:0001583	missense	9027			AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"""N-acetyltransferase 8"""			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.7C>T	2.37:g.73868749G>A	ENSP00000272425:p.Pro3Ser			Missense_Mutation	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.P3S	ENST00000272425.3	37	c.7	CCDS1926.1	2	.	.	.	.	.	.	.	.	.	.	G	5.518	0.280597	0.10458	.	.	ENSG00000144035	ENST00000272425	T	0.30182	1.54	3.86	1.98	0.26296	Acyl-CoA N-acyltransferase (1);	0.667620	0.14807	N	0.297250	T	0.23806	0.0576	L	0.45581	1.43	0.23473	N	0.997609	P	0.40909	0.732	B	0.40901	0.343	T	0.09400	-1.0676	10	0.30854	T	0.27	-5.7149	4.1488	0.10228	0.2106:0.0:0.6068:0.1826	.	3	Q9UHE5	NAT8_HUMAN	S	3	ENSP00000272425:P3S	ENSP00000272425:P3S	P	-	1	0	NAT8	73722257	0.007000	0.16637	0.965000	0.40720	0.054000	0.15201	-0.184000	0.09698	0.365000	0.24400	0.644000	0.83932	CCT	NAT8	-	NULL		0.572	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT8	HGNC	protein_coding	OTTHUMT00000327854.1	G	NM_003960		73868749	-1	no_errors	ENST00000272425	ensembl	human	known	70_37	missense	SNP	0.514	A
NBEA	26960	genome.wustl.edu	37	13	36026253	36026253	+	Nonsense_Mutation	SNP	C	C	G			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr13:36026253C>G	ENST00000400445.3	+	40	6863	c.6329C>G	c.(6328-6330)tCa>tGa	p.S2110*	NBEA_ENST00000540320.1_Nonsense_Mutation_p.S2110*|NBEA_ENST00000379939.2_Nonsense_Mutation_p.S2107*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.S2110*	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2110					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GTAGTAAAGTCAAAGAAAACA	0.338																																																	0													85.0	79.0	81.0					13																	36026253		1885	4112	5997	SO:0001587	stop_gained	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.6329C>G	13.37:g.36026253C>G	ENSP00000383295:p.Ser2110*		B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Nonsense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.S2110*	ENST00000400445.3	37	c.6329	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	C	50	16.865690	0.99874	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518	.	.	.	5.45	5.45	0.79879	.	0.356490	0.29609	N	0.011664	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	19.2813	0.94053	0.0:1.0:0.0:0.0	.	.	.	.	X	2110;2110;2107;2110;737	.	ENSP00000308534:S2110X	S	+	2	0	NBEA	34924253	0.993000	0.37304	0.942000	0.38095	0.925000	0.55904	2.979000	0.49313	2.542000	0.85734	0.655000	0.94253	TCA	NBEA	-	pfam_DUF1088		0.338	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		C	NM_015678		36026253	+1	no_errors	ENST00000310336	ensembl	human	known	70_37	nonsense	SNP	0.966	G
NBPF1	55672	genome.wustl.edu	37	1	16921146	16921146	+	5'UTR	SNP	T	T	C	rs1759165	byFrequency	TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:16921146T>C	ENST00000430580.2	-	0	511					NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCGGGCTCCTTCCAAGGCTCC	0.527																																																	0																																										SO:0001623	5_prime_UTR_variant	55672			AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.-377A>G	1.37:g.16921146T>C			Q8N4E8|Q9C0H0	RNA	SNP	-	NULL	ENST00000430580.2	37	NULL		1																																																																																			NBPF1	-	-		0.527	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	NBPF1	HGNC	protein_coding	OTTHUMT00000106436.3	T	NM_017940		16921146	-1	no_errors	ENST00000420513	ensembl	human	known	70_37	rna	SNP	0.001	C
NDUFAF7	55471	genome.wustl.edu	37	2	37473261	37473261	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr2:37473261C>T	ENST00000002125.4	+	8	899	c.859C>T	c.(859-861)Caa>Taa	p.Q287*	NDUFAF7_ENST00000483999.1_3'UTR|NDUFAF7_ENST00000336237.6_Nonsense_Mutation_p.Q189*	NM_144736.4	NP_653337.1	Q7L592	NDUF7_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 7	287					methylation (GO:0032259)|mitochondrial respiratory chain complex I assembly (GO:0032981)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|methyltransferase activity (GO:0008168)										GGAACTTTCTCAACGCATTGC	0.413																																																	0													208.0	165.0	180.0					2																	37473261		2203	4300	6503	SO:0001587	stop_gained	55471				CCDS1788.1, CCDS42673.1	2p22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000003509	ENSG00000003509		"""Mitochondrial respiratory chain complex assembly factors"""	28816	protein-coding gene	gene with protein product	"""mitochondrial dysfunction protein A homolog"""	615898	"""chromosome 2 open reading frame 56"""	C2orf56			Standard	NM_144736		Approved	PRO1853, MidA	uc002rqa.4	Q7L592	OTTHUMG00000128468	ENST00000002125.4:c.859C>T	2.37:g.37473261C>T	ENSP00000002125:p.Gln287*		Q7Z399|Q9P1G3	Nonsense_Mutation	SNP	pfam_MidA	p.Q287*	ENST00000002125.4	37	c.859	CCDS1788.1	2	.	.	.	.	.	.	.	.	.	.	C	14.02	2.411100	0.42817	.	.	ENSG00000003509	ENST00000002125;ENST00000336237;ENST00000431821;ENST00000439218	.	.	.	5.67	0.353	0.16058	.	0.514786	0.22285	N	0.062066	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-5.9489	6.4356	0.21821	0.1918:0.3575:0.3849:0.0657	.	.	.	.	X	287;189;208;245	.	ENSP00000002125:Q287X	Q	+	1	0	C2orf56	37326765	0.000000	0.05858	0.831000	0.32960	0.539000	0.34962	-0.503000	0.06383	0.314000	0.23086	-0.127000	0.14921	CAA	NDUFAF7	-	pfam_MidA		0.413	NDUFAF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDUFAF7	HGNC	protein_coding	OTTHUMT00000250267.1	C	NM_144736		37473261	+1	no_errors	ENST00000002125	ensembl	human	known	70_37	nonsense	SNP	0.003	T
NET1	10276	genome.wustl.edu	37	10	5494406	5494406	+	Missense_Mutation	SNP	G	G	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr10:5494406G>C	ENST00000355029.4	+	5	591	c.449G>C	c.(448-450)aGa>aCa	p.R150T	NET1_ENST00000542715.1_5'UTR|NET1_ENST00000380359.3_Missense_Mutation_p.R96T	NM_001047160.2	NP_001040625.1	Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1	150					apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to ionizing radiation (GO:0071479)|myoblast migration (GO:0051451)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of cell growth (GO:0001558)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						CCCGCCAAGAGAAGGAGCAGT	0.527																																																	0													84.0	76.0	79.0					10																	5494406		2203	4300	6503	SO:0001583	missense	10276			AJ010046	CCDS7067.1, CCDS41483.1	10p15	2013-01-10	2008-09-12		ENSG00000173848	ENSG00000173848		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14592	protein-coding gene	gene with protein product		606450				8649828	Standard	NR_073040		Approved	ARHGEF8, NET1A	uc001iia.4	Q7Z628	OTTHUMG00000017596	ENST00000355029.4:c.449G>C	10.37:g.5494406G>C	ENSP00000347134:p.Arg150Thr		Q12773|Q96D82|Q99903|Q9UEN6	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R150T	ENST00000355029.4	37	c.449	CCDS41483.1	10	.	.	.	.	.	.	.	.	.	.	G	16.80	3.223896	0.58668	.	.	ENSG00000173848	ENST00000355029;ENST00000380359	T;T	0.12672	2.66;2.67	5.53	4.62	0.57501	.	0.000000	0.46145	D	0.000309	T	0.37598	0.1009	M	0.79693	2.465	0.80722	D	1	D;D	0.76494	0.999;0.996	D;D	0.70935	0.971;0.917	T	0.14839	-1.0458	10	0.56958	D	0.05	-24.8294	13.5466	0.61707	0.0775:0.0:0.9225:0.0	.	96;150	Q5SQI7;Q7Z628	.;ARHG8_HUMAN	T	150;96	ENSP00000347134:R150T;ENSP00000369717:R96T	ENSP00000347134:R150T	R	+	2	0	NET1	5484406	1.000000	0.71417	0.997000	0.53966	0.401000	0.30781	9.869000	0.99810	2.585000	0.87301	0.650000	0.86243	AGA	NET1	-	NULL		0.527	NET1-005	KNOWN	basic|CCDS	protein_coding	NET1	HGNC	protein_coding	OTTHUMT00000046553.3	G	NM_005863		5494406	+1	no_errors	ENST00000355029	ensembl	human	known	70_37	missense	SNP	1.000	C
NFAT5	10725	genome.wustl.edu	37	16	69724847	69724847	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr16:69724847G>A	ENST00000354436.2	+	11	2043	c.1725G>A	c.(1723-1725)atG>atA	p.M575I	NFAT5_ENST00000432919.1_Missense_Mutation_p.M593I|NFAT5_ENST00000393742.2_Missense_Mutation_p.M499I|NFAT5_ENST00000349945.1_Missense_Mutation_p.M499I|NFAT5_ENST00000566899.1_Missense_Mutation_p.M499I|NFAT5_ENST00000567239.1_Missense_Mutation_p.M592I	NM_006599.3	NP_006590.1	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	575					cytokine production (GO:0001816)|excretion (GO:0007588)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of calcineurin-NFAT signaling cascade (GO:0070884)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATGCAGCAATGAAAACTACTG	0.303																																																	0													97.0	101.0	100.0					16																	69724847		2198	4299	6497	SO:0001583	missense	10725			AF134870	CCDS10881.1, CCDS10882.1, CCDS45519.1	16q22.1	2009-11-24			ENSG00000102908	ENSG00000102908		"""Nuclear factor of activated T-cells"""	7774	protein-coding gene	gene with protein product		604708				10377394	Standard	NM_173214		Approved	TONEBP, KIAA0827, NFATL1, OREBP, NFATZ, NF-AT5	uc002exl.2	O94916	OTTHUMG00000137572	ENST00000354436.2:c.1725G>A	16.37:g.69724847G>A	ENSP00000346420:p.Met575Ile		A2RRB4|A6H8V5|E9PHR7|O95693|Q7LA65|Q969Q8|Q96QH3|Q9UN18	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.M593I	ENST00000354436.2	37	c.1779	CCDS10881.1	16	.	.	.	.	.	.	.	.	.	.	G	12.51	1.960269	0.34565	.	.	ENSG00000102908	ENST00000432919;ENST00000426654;ENST00000349945;ENST00000354436;ENST00000393742	T;T;T;T	0.40756	1.02;1.03;1.02;1.03	5.69	3.7	0.42460	Immunoglobulin E-set (1);	0.324487	0.39146	N	0.001458	T	0.29976	0.0750	L	0.43152	1.355	0.35509	D	0.800498	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.23940	-1.0174	10	0.18710	T	0.47	-2.6247	7.008	0.24848	0.1413:0.0:0.7174:0.1413	.	592;575;593	A2RRB4;O94916;E9PHR7	.;NFAT5_HUMAN;.	I	593;592;499;575;499	ENSP00000396538:M593I;ENSP00000338806:M499I;ENSP00000346420:M575I;ENSP00000377343:M499I	ENSP00000338806:M499I	M	+	3	0	NFAT5	68282348	1.000000	0.71417	1.000000	0.80357	0.708000	0.40852	2.089000	0.41672	0.735000	0.32537	0.655000	0.94253	ATG	NFAT5	-	superfamily_Ig_E-set		0.303	NFAT5-001	KNOWN	basic|CCDS	protein_coding	NFAT5	HGNC	protein_coding	OTTHUMT00000268952.2	G	NM_138714		69724847	+1	no_errors	ENST00000432919	ensembl	human	known	70_37	missense	SNP	1.000	A
NIN	51199	genome.wustl.edu	37	14	51223799	51223799	+	Missense_Mutation	SNP	C	C	G			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr14:51223799C>G	ENST00000382041.3	-	18	4139	c.3949G>C	c.(3949-3951)Gaa>Caa	p.E1317Q	NIN_ENST00000389868.3_Intron|NIN_ENST00000324330.9_Missense_Mutation_p.E1317Q|NIN_ENST00000245441.5_Missense_Mutation_p.E1317Q|NIN_ENST00000530997.2_Missense_Mutation_p.E1317Q|NIN_ENST00000382043.4_Intron|NIN_ENST00000453196.1_Missense_Mutation_p.E1317Q	NM_016350.4|NM_182946.1	NP_057434.4|NP_891991	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1317					centrosome localization (GO:0051642)|centrosome-templated microtubule nucleation (GO:0090222)|microtubule anchoring at centrosome (GO:0034454)	centriole (GO:0005814)|centrosome (GO:0005813)|microtubule (GO:0005874)|nucleolus (GO:0005730)|spindle pole (GO:0000922)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CCCTCATTTTCTATTTTGACC	0.468			T	PDGFRB	MPD																																			Dom	yes		14	14q24	51199	ninein (GSK3B interacting protein)		L	0													104.0	105.0	105.0					14																	51223799		2203	4300	6503	SO:0001583	missense	51199			AF212162	CCDS32078.1, CCDS32079.1, CCDS32078.2	14q21-q22	2013-01-10			ENSG00000100503	ENSG00000100503		"""EF-hand domain containing"""	14906	protein-coding gene	gene with protein product		608684				11004522, 11162463	Standard	NM_020921		Approved		uc001wyi.3	Q8N4C6	OTTHUMG00000029569	ENST00000382041.3:c.3949G>C	14.37:g.51223799C>G	ENSP00000371472:p.Glu1317Gln		A6NDB8|B7WPA3|C9JSB6|C9JSG2|C9JXL2|Q5BKU3|Q6P0P6|Q9BWU6|Q9C012|Q9C013|Q9C014|Q9H5I6|Q9HAT7|Q9HBY5|Q9HCK7|Q9UH61	Missense_Mutation	SNP	superfamily_tRNA-bd_arm,pfscan_EF_HAND_2	p.E1317Q	ENST00000382041.3	37	c.3949	CCDS32079.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.67|19.67	3.871802|3.871802	0.72180|0.72180	.|.	.|.	ENSG00000100503|ENSG00000100503	ENST00000245441;ENST00000311149;ENST00000324292;ENST00000382041;ENST00000324330;ENST00000453196|ENST00000530997;ENST00000389869;ENST00000530853	T;T;T;T|.	0.09630|.	3.23;2.96;2.96;2.96|.	6.06|6.06	6.06|6.06	0.98353|0.98353	.|.	0.103517|.	0.64402|.	D|.	0.000005|.	T|T	0.64136|0.64136	0.2571|0.2571	M|M	0.67953|0.67953	2.075|2.075	0.30346|0.30346	N|N	0.785205|0.785205	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;0.998|.	D;D;D;D|.	0.91635|.	0.999;0.999;0.997;0.994|.	T|T	0.64433|0.64433	-0.6409|-0.6409	10|5	0.18710|.	T|.	0.47|.	-17.0525|-17.0525	14.7953|14.7953	0.69873|0.69873	0.0:0.9295:0.0:0.0705|0.0:0.9295:0.0:0.0705	.|.	1323;1317;1317;1317|.	Q8N4C6-5;C9J066;Q8N4C6;Q8N4C6-7|.	.;.;NIN_HUMAN;.|.	Q|T	1317;1300;1323;1317;1317;1317|807	ENSP00000245441:E1317Q;ENSP00000371472:E1317Q;ENSP00000324210:E1317Q;ENSP00000412391:E1317Q|.	ENSP00000245441:E1317Q|.	E|R	-|-	1|2	0|0	NIN|NIN	50293549|50293549	0.997000|0.997000	0.39634|0.39634	0.983000|0.983000	0.44433|0.44433	0.982000|0.982000	0.71751|0.71751	4.814000|4.814000	0.62627|0.62627	2.882000|2.882000	0.98803|0.98803	0.655000|0.655000	0.94253|0.94253	GAA|AGA	NIN	-	NULL		0.468	NIN-016	KNOWN	basic|CCDS	protein_coding	NIN	HGNC	protein_coding	OTTHUMT00000395207.2	C	NM_182946		51223799	-1	no_errors	ENST00000245441	ensembl	human	known	70_37	missense	SNP	0.981	G
NKTR	4820	genome.wustl.edu	37	3	42674223	42674223	+	Missense_Mutation	SNP	G	G	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:42674223G>T	ENST00000232978.8	+	9	869	c.681G>T	c.(679-681)aaG>aaT	p.K227N	RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA|RP4-613B23.1_ENST00000438017.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer cell triggering receptor	227	Arg/Lys-rich (basic).|Arg/Ser-rich.				protein folding (GO:0006457)	membrane (GO:0016020)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GGAAACATAAGAGGAGGCCAA	0.423																																																	0													114.0	119.0	117.0					3																	42674223		2203	4300	6503	SO:0001583	missense	4820				CCDS2702.1	3p22.1	2014-01-20	2014-01-20		ENSG00000114857	ENSG00000114857			7833	protein-coding gene	gene with protein product	"""NK-tumor recognition protein"", ""natural-killer cells cyclophilin-related protein"", ""NK-TR protein"""	161565	"""natural killer-tumor recognition sequence"""			8314596, 8144875	Standard	XM_005265173		Approved	p104	uc003clo.3	P30414	OTTHUMG00000133037	ENST00000232978.8:c.681G>T	3.37:g.42674223G>T	ENSP00000232978:p.Lys227Asn			Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.K227N	ENST00000232978.8	37	c.681	CCDS2702.1	3	.	.	.	.	.	.	.	.	.	.	G	19.49	3.836887	0.71373	.	.	ENSG00000114857	ENST00000232978	T	0.16597	2.33	5.74	3.87	0.44632	.	0.097847	0.64402	D	0.000002	T	0.35038	0.0918	M	0.76002	2.32	0.80722	D	1	D;D	0.63880	0.986;0.993	P;P	0.62435	0.722;0.902	T	0.04946	-1.0916	10	0.59425	D	0.04	-15.0264	8.4763	0.33016	0.3334:0.0:0.6666:0.0	.	107;227	Q59EC3;P30414	.;NKTR_HUMAN	N	227	ENSP00000232978:K227N	ENSP00000232978:K227N	K	+	3	2	NKTR	42649227	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	2.235000	0.43044	0.698000	0.31739	-0.345000	0.07892	AAG	NKTR	-	NULL		0.423	NKTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NKTR	HGNC	protein_coding	OTTHUMT00000256642.2	G	NM_005385		42674223	+1	no_errors	ENST00000232978	ensembl	human	known	70_37	missense	SNP	1.000	T
NUP153	9972	genome.wustl.edu	37	6	17632951	17632951	+	Missense_Mutation	SNP	C	C	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:17632951C>A	ENST00000262077.2	-	17	2588	c.2589G>T	c.(2587-2589)caG>caT	p.Q863H	NUP153_ENST00000537253.1_Missense_Mutation_p.Q894H	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	863					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CTGCCTTATTCTGCACTAGGC	0.448																																																	0													133.0	123.0	127.0					6																	17632951		2203	4300	6503	SO:0001583	missense	9972			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.2589G>T	6.37:g.17632951C>A	ENSP00000262077:p.Gln863His		B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.Q894H	ENST00000262077.2	37	c.2682	CCDS4541.1	6	.	.	.	.	.	.	.	.	.	.	C	17.41	3.382340	0.61845	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.58060	0.36;0.36	5.58	0.496	0.16896	Zinc finger, RanBP2-type (4);	0.000000	0.48767	D	0.000162	T	0.48114	0.1482	M	0.67569	2.06	0.48571	D	0.999676	B;P;B	0.45531	0.129;0.86;0.169	B;P;B	0.53450	0.106;0.726;0.18	T	0.53913	-0.8371	10	0.72032	D	0.01	0.1402	10.357	0.43969	0.0:0.3799:0.0:0.6201	.	894;843;863	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	H	863;843;894	ENSP00000262077:Q863H;ENSP00000444029:Q894H	ENSP00000262077:Q863H	Q	-	3	2	NUP153	17740930	1.000000	0.71417	0.991000	0.47740	0.854000	0.48673	1.143000	0.31553	0.023000	0.15187	-0.218000	0.12543	CAG	NUP153	-	pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2		0.448	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP153	HGNC	protein_coding	OTTHUMT00000039953.1	C			17632951	-1	no_errors	ENST00000537253	ensembl	human	known	70_37	missense	SNP	0.999	A
NUP188	23511	genome.wustl.edu	37	9	131742975	131742975	+	Silent	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr9:131742975C>T	ENST00000372577.2	+	14	1381	c.1360C>T	c.(1360-1362)Ctg>Ttg	p.L454L		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	454					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GCTCCGAGCCCTGGTATCAGG	0.468																																																	0													116.0	102.0	107.0					9																	131742975		2203	4300	6503	SO:0001819	synonymous_variant	23511			D79991	CCDS35156.1	9q34.13	2014-01-28	2004-03-19	2004-03-24	ENSG00000095319	ENSG00000095319			17859	protein-coding gene	gene with protein product		615587	"""KIAA0169"""	KIAA0169		11029043	Standard	NM_015354		Approved		uc004bws.2	Q5SRE5	OTTHUMG00000020768	ENST00000372577.2:c.1360C>T	9.37:g.131742975C>T			Q14675|Q2TA87|Q7Z3K8|Q8IWF1	Silent	SNP	pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold	p.L454	ENST00000372577.2	37	c.1360	CCDS35156.1	9																																																																																			NUP188	-	pfam_Nucleoporin_Nup188		0.468	NUP188-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP188	HGNC	protein_coding	OTTHUMT00000054529.2	C			131742975	+1	no_errors	ENST00000372577	ensembl	human	known	70_37	silent	SNP	1.000	T
NUSAP1	51203	genome.wustl.edu	37	15	41672441	41672442	+	3'UTR	INS	-	-	T	rs528753042|rs11376196|rs397952972	byFrequency	TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	-	-					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr15:41672441_41672442insT	ENST00000559596.1	+	0	1470_1471				NUSAP1_ENST00000560747.1_3'UTR|NUSAP1_ENST00000558123.1_3'UTR|NUSAP1_ENST00000450592.2_3'UTR|NUSAP1_ENST00000414849.2_3'UTR|NUSAP1_ENST00000560177.1_3'UTR|NUSAP1_ENST00000450318.1_3'UTR|NUSAP1_ENST00000260359.6_3'UTR			Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1						establishment of mitotic spindle localization (GO:0040001)|mitotic chromosome condensation (GO:0007076)|mitotic cytokinesis (GO:0000281)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of mitosis (GO:0045840)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		CCTTTTGTAAATTTTTTTTTTT	0.351													|||unknown(HR)	1904	0.380192	0.1846	0.4914	5008	,	,		19115	0.5794		0.3469	False		,,,				2504	0.3947																0																																										SO:0001624	3_prime_UTR_variant	51203			AF290612	CCDS45234.1, CCDS45236.1, CCDS58356.1, CCDS58357.1, CCDS58358.1, CCDS73708.1	15q14	2008-02-05				ENSG00000137804			18538	protein-coding gene	gene with protein product		612818				12963707	Standard	NM_016359		Approved	FLJ13421, LNP, ANKT, NuSAP1, SAPL, BM037, PRO0310p1, Q0310	uc001zns.4	Q9BXS6		ENST00000559596.1:c.*58->T	15.37:g.41672452_41672452dupT			B4DDF1|E7ERR5|J3KN21|Q53GW2|Q8TBT4|Q96E58|Q96FJ1|Q9GZM9|Q9NZ85|Q9UI70	RNA	INS	-	NULL	ENST00000559596.1	37	NULL	CCDS45234.1	15																																																																																			NUSAP1	-	-		0.351	NUSAP1-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NUSAP1	HGNC	protein_coding	OTTHUMT00000419427.1	-	NM_016359		41672442	+1	no_errors	ENST00000558123	ensembl	human	known	70_37	rna	INS	1.000:1.000	T
OBSCN	84033	genome.wustl.edu	37	1	228558866	228558866	+	Missense_Mutation	SNP	C	C	G			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:228558866C>G	ENST00000422127.1	+	94	20431	c.20387C>G	c.(20386-20388)tCt>tGt	p.S6796C	OBSCN_ENST00000570156.2_Missense_Mutation_p.S7753C|OBSCN_ENST00000366707.4_Missense_Mutation_p.S4430C	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6796	Poly-Ser.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCCTCCTCCTCTGACAACGAG	0.692																																																	0													23.0	29.0	27.0					1																	228558866		2081	4204	6285	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.20387C>G	1.37:g.228558866C>G	ENSP00000409493:p.Ser6796Cys		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.S6796C	ENST00000422127.1	37	c.20387	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	16.64	3.178960	0.57692	.	.	ENSG00000154358	ENST00000422127;ENST00000366707	T;T	0.65178	-0.14;-0.08	4.65	4.65	0.58169	.	.	.	.	.	T	0.76644	0.4016	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.79107	-0.1939	9	0.66056	D	0.02	.	17.734	0.88387	0.0:1.0:0.0:0.0	.	6796	Q5VST9	OBSCN_HUMAN	C	6796;4430	ENSP00000409493:S6796C;ENSP00000355668:S4430C	ENSP00000355668:S4430C	S	+	2	0	OBSCN	226625489	1.000000	0.71417	0.908000	0.35775	0.057000	0.15508	7.444000	0.80532	2.417000	0.82017	0.555000	0.69702	TCT	OBSCN	-	NULL		0.692	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		C	NM_052843		228558866	+1	no_errors	ENST00000422127	ensembl	human	known	70_37	missense	SNP	1.000	G
OBSCN	84033	genome.wustl.edu	37	1	228559531	228559531	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:228559531C>T	ENST00000422127.1	+	94	21096	c.21052C>T	c.(21052-21054)Cag>Tag	p.Q7018*	OBSCN_ENST00000570156.2_Nonsense_Mutation_p.Q7975*|OBSCN_ENST00000366707.4_Nonsense_Mutation_p.Q4652*	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7018	Pro-rich.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGCACTGCTCAGCCAGAGAG	0.701																																																	0													15.0	18.0	17.0					1																	228559531		1974	4134	6108	SO:0001587	stop_gained	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.21052C>T	1.37:g.228559531C>T	ENSP00000409493:p.Gln7018*		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.Q7018*	ENST00000422127.1	37	c.21052	CCDS58065.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	64|64	83.942034|83.942034	0.99995|0.99995	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000422127;ENST00000366707|ENST00000441106	.|.	.|.	.|.	4.2|4.2	-0.412|-0.412	0.12367|0.12367	.|.	.|.	.|.	.|.	.|.	.|T	.|0.31670	.|0.0804	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.30736	.|-0.9968	.|4	0.06236|.	T|.	0.91|.	.|.	7.743|7.743	0.28851|0.28851	0.4762:0.3782:0.1456:0.0|0.4762:0.3782:0.1456:0.0	.|.	.|.	.|.	.|.	X|L	7018;4652|1634	.|.	ENSP00000355668:Q4652X|.	Q|S	+|+	1|2	0|0	OBSCN|OBSCN	226626154|226626154	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.048000|0.048000	0.14542|0.14542	-0.466000|-0.466000	0.06672|0.06672	0.056000|0.056000	0.16144|0.16144	0.555000|0.555000	0.69702|0.69702	CAG|TCA	OBSCN	-	NULL		0.701	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		C	NM_052843		228559531	+1	no_errors	ENST00000422127	ensembl	human	known	70_37	nonsense	SNP	0.000	T
OBSCN	84033	genome.wustl.edu	37	1	228559700	228559700	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:228559700C>T	ENST00000422127.1	+	94	21265	c.21221C>T	c.(21220-21222)tCa>tTa	p.S7074L	OBSCN_ENST00000570156.2_Missense_Mutation_p.S8031L|OBSCN_ENST00000366707.4_Missense_Mutation_p.S4708L	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7074	Pro-rich.				apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TTAGTACCCTCAAGCCCCTTC	0.647																																																	0													37.0	40.0	39.0					1																	228559700		1857	4088	5945	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.21221C>T	1.37:g.228559700C>T	ENSP00000409493:p.Ser7074Leu		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.S7074L	ENST00000422127.1	37	c.21221	CCDS58065.1	1	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702312	0.48307	.	.	ENSG00000154358	ENST00000422127;ENST00000366707	T;T	0.62364	0.03;0.09	3.7	-5.28	0.02755	.	.	.	.	.	T	0.33818	0.0876	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.27872	-1.0061	9	0.09843	T	0.71	.	3.357	0.07173	0.2417:0.214:0.4459:0.0984	.	7074	Q5VST9	OBSCN_HUMAN	L	7074;4708	ENSP00000409493:S7074L;ENSP00000355668:S4708L	ENSP00000355668:S4708L	S	+	2	0	OBSCN	226626323	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.820000	0.01714	-0.794000	0.04468	0.555000	0.69702	TCA	OBSCN	-	NULL		0.647	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		C	NM_052843		228559700	+1	no_errors	ENST00000422127	ensembl	human	known	70_37	missense	SNP	0.000	T
OBSCN	84033	genome.wustl.edu	37	1	228559915	228559915	+	Missense_Mutation	SNP	C	C	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:228559915C>A	ENST00000422127.1	+	94	21480	c.21436C>A	c.(21436-21438)Ctg>Atg	p.L7146M	OBSCN_ENST00000570156.2_Missense_Mutation_p.L8103M|OBSCN_ENST00000366707.4_Missense_Mutation_p.L4780M	NM_001098623.2	NP_001092093.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7146					apoptotic signaling pathway (GO:0097190)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|protein localization to M-band (GO:0036309)|regulation of small GTPase mediated signal transduction (GO:0051056)|sarcomere organization (GO:0045214)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|M band (GO:0031430)|myofibril (GO:0030016)|Z disc (GO:0030018)	ankyrin binding (GO:0030506)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGCCCCTCCCTGGATGCGGA	0.672																																																	0													9.0	11.0	10.0					1																	228559915		1982	4131	6113	SO:0001583	missense	84033			AJ002535	CCDS1570.2, CCDS58065.1, CCDS59204.1	1q42	2014-09-17			ENSG00000154358	ENSG00000154358		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	15719	protein-coding gene	gene with protein product		608616				11448995, 11814696	Standard	NM_001098623		Approved	KIAA1556, UNC89, KIAA1639, ARHGEF30	uc001hsq.2	Q5VST9	OTTHUMG00000039772	ENST00000422127.1:c.21436C>A	1.37:g.228559915C>A	ENSP00000409493:p.Leu7146Met		Q2A664|Q5T7G8|Q5T7G9|Q5VSU2|Q86YC7|Q8NHN0|Q8NHN1|Q8NHN2|Q8NHN3|Q8NHN4|Q8NHN5|Q8NHN6|Q8NHN7|Q8NHN8|Q8NHN9|Q96AA2|Q9HCD3|Q9HCL6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.L7146M	ENST00000422127.1	37	c.21436	CCDS58065.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.44|16.44	3.122920|3.122920	0.56613|0.56613	.|.	.|.	ENSG00000154358|ENSG00000154358	ENST00000422127;ENST00000366707|ENST00000441106	T;T|.	0.63580|.	-0.05;0.0|.	4.21|4.21	1.02|1.02	0.19986|0.19986	.|.	.|.	.|.	.|.	.|.	T|T	0.22898|0.22898	0.0553|0.0553	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	1|1	P|.	0.44578|.	0.838|.	B|.	0.41691|.	0.364|.	T|T	0.22556|0.22556	-1.0213|-1.0213	9|5	0.48119|.	T|.	0.1|.	.|.	4.0839|4.0839	0.09939|0.09939	0.0:0.556:0.2128:0.2312|0.0:0.556:0.2128:0.2312	.|.	7146|.	Q5VST9|.	OBSCN_HUMAN|.	M|H	7146;4780|1762	ENSP00000409493:L7146M;ENSP00000355668:L4780M|.	ENSP00000355668:L4780M|.	L|P	+|+	1|2	2|0	OBSCN|OBSCN	226626538|226626538	0.003000|0.003000	0.15002|0.15002	0.001000|0.001000	0.08648|0.08648	0.015000|0.015000	0.08874|0.08874	0.052000|0.052000	0.14163|0.14163	0.421000|0.421000	0.25980|0.25980	0.555000|0.555000	0.69702|0.69702	CTG|CCT	OBSCN	-	NULL		0.672	OBSCN-204	KNOWN	basic|CCDS	protein_coding	OBSCN	HGNC	protein_coding		C	NM_052843		228559915	+1	no_errors	ENST00000422127	ensembl	human	known	70_37	missense	SNP	0.000	A
OGFOD1	55239	genome.wustl.edu	37	16	56485629	56485629	+	Missense_Mutation	SNP	G	G	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr16:56485629G>C	ENST00000566157.1	+	1	228	c.105G>C	c.(103-105)ttG>ttC	p.L35F	OGFOD1_ENST00000568397.1_Missense_Mutation_p.L35F|NUDT21_ENST00000300291.5_5'Flank	NM_018233.3	NP_060703.3	Q8N543	OGFD1_HUMAN	2-oxoglutarate and iron-dependent oxygenase domain containing 1	35					cell proliferation (GO:0008283)|peptidyl-proline hydroxylation (GO:0019511)|protein hydroxylation (GO:0018126)|regulation of translational termination (GO:0006449)|stress granule assembly (GO:0034063)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|peptidyl-proline 3-dioxygenase activity (GO:0031544)|peptidyl-proline dioxygenase activity (GO:0031543)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	AAGAAACCTTGAAAAAGCAGG	0.627																																																	0													48.0	53.0	51.0					16																	56485629		2198	4300	6498	SO:0001583	missense	55239			BC032919	CCDS10761.2	16q12.2	2010-11-23			ENSG00000087263	ENSG00000087263			25585	protein-coding gene	gene with protein product	"""TPA1, termination and polyadenylation 1, homolog (S. cerevisiae)"""	615857				10997877	Standard	NM_018233		Approved	KIAA1612, FLJ10826, TPA1	uc002ejb.3	Q8N543	OTTHUMG00000133237	ENST00000566157.1:c.105G>C	16.37:g.56485629G>C	ENSP00000457258:p.Leu35Phe		H3BUQ2|Q9H7U5|Q9H9J9|Q9HA87|Q9HCG0|Q9NVB6	Missense_Mutation	SNP	pfam_Oxoglutarate/Fe-dep_Oase_C,smart_Pro_4_hyd_alph	p.L35F	ENST00000566157.1	37	c.105	CCDS10761.2	16	.	.	.	.	.	.	.	.	.	.	G	15.80	2.939900	0.52972	.	.	ENSG00000087263	ENST00000336111	.	.	.	5.8	4.86	0.63082	.	0.432415	0.23167	N	0.051173	T	0.35248	0.0925	N	0.13098	0.295	0.40599	D	0.981561	B	0.14012	0.009	B	0.12156	0.007	T	0.21245	-1.0251	9	0.02654	T	1	-21.2699	12.1422	0.54005	0.0799:0.0:0.9201:0.0	.	35	Q8N543	OGFD1_HUMAN	F	35	.	ENSP00000337196:L35F	L	+	3	2	OGFOD1	55043130	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	3.463000	0.53050	1.480000	0.48289	0.563000	0.77884	TTG	OGFOD1	-	NULL		0.627	OGFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OGFOD1	HGNC	protein_coding	OTTHUMT00000256976.3	G	NM_018233		56485629	+1	no_errors	ENST00000566157	ensembl	human	known	70_37	missense	SNP	1.000	C
OR10J1	26476	genome.wustl.edu	37	1	159410128	159410128	+	Missense_Mutation	SNP	G	G	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:159410128G>T	ENST00000423932.3	+	1	617	c.580G>T	c.(580-582)Gtg>Ttg	p.V194L	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	194					G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of chemical stimulus (GO:0007606)|single fertilization (GO:0007338)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CATCCGCCCTGTGATGAAGCT	0.463																																																	0													240.0	216.0	224.0					1																	159410128		2203	4300	6503	SO:0001583	missense	26476			X64995	CCDS1185.1	1q23.2	2012-08-09			ENSG00000196184	ENSG00000196184		"""GPCR / Class A : Olfactory receptors"""	8175	protein-coding gene	gene with protein product						1370859	Standard	NM_012351		Approved	HGMP07J, HSHGMP07J	uc010piv.2	P30954	OTTHUMG00000022737	ENST00000423932.3:c.580G>T	1.37:g.159410128G>T	ENSP00000399078:p.Val194Leu		Q2M1M8|Q5VSV1|Q6IET5|Q96R56	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V194L	ENST00000423932.3	37	c.580	CCDS1185.1	1	.	.	.	.	.	.	.	.	.	.	G	3.034	-0.198902	0.06219	.	.	ENSG00000196184	ENST00000423932	T	0.00099	8.73	4.18	3.27	0.37495	GPCR, rhodopsin-like superfamily (1);	0.000000	0.37437	N	0.002097	T	0.00012	0.0000	N	0.10645	0.015	0.23727	N	0.997003	B	0.13594	0.008	B	0.20184	0.028	T	0.33033	-0.9884	10	0.10111	T	0.7	.	5.3035	0.15791	0.105:0.0:0.6945:0.2006	.	194	P30954	O10J1_HUMAN	L	194	ENSP00000399078:V194L	ENSP00000399078:V194L	V	+	1	0	OR10J1	157676752	0.000000	0.05858	0.369000	0.25952	0.029000	0.11900	-0.543000	0.06084	1.086000	0.41228	-0.142000	0.14014	GTG	OR10J1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.463	OR10J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J1	HGNC	protein_coding	OTTHUMT00000059020.1	G	NM_012351		159410128	+1	no_errors	ENST00000423932	ensembl	human	known	70_37	missense	SNP	0.659	T
OR2K2	26248	genome.wustl.edu	37	9	114090765	114090765	+	Silent	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr9:114090765G>A	ENST00000374428.1	-	1	35	c.36C>T	c.(34-36)ctC>ctT	p.L12L	OR2K2_ENST00000302681.1_5'Flank			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	12						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)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						CATTTAATCTGAGGACATAAA	0.289																																																	0													9.0	11.0	10.0					9																	114090765		1205	2223	3428	SO:0001819	synonymous_variant	26248			X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"""GPCR / Class A : Olfactory receptors"""	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.36C>T	9.37:g.114090765G>A			Q2TA61|Q5VYK4|Q6IFI5	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L12	ENST00000374428.1	37	c.36		9																																																																																			OR2K2	-	NULL		0.289	OR2K2-201	KNOWN	basic	protein_coding	OR2K2	HGNC	protein_coding		G	NM_205859		114090765	-1	no_errors	ENST00000374428	ensembl	human	known	70_37	silent	SNP	0.003	A
OR56A1	120796	genome.wustl.edu	37	11	6048812	6048812	+	Silent	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr11:6048812G>A	ENST00000316650.5	-	1	159	c.123C>T	c.(121-123)ctC>ctT	p.L41L		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	41						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)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCAGGAGGAAGAGAAGGCTGA	0.602																																																	0													81.0	77.0	78.0					11																	6048812		2201	4296	6497	SO:0001819	synonymous_variant	120796			AB065821	CCDS31405.1	11p15.4	2012-08-09			ENSG00000180934	ENSG00000180934		"""GPCR / Class A : Olfactory receptors"""	14781	protein-coding gene	gene with protein product							Standard	NM_001001917		Approved		uc010qzw.2	Q8NGH5	OTTHUMG00000165377	ENST00000316650.5:c.123C>T	11.37:g.6048812G>A			B2RNI2|Q6IFL0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L41	ENST00000316650.5	37	c.123	CCDS31405.1	11																																																																																			OR56A1	-	prints_GPCR_Rhodpsn		0.602	OR56A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR56A1	HGNC	protein_coding	OTTHUMT00000383757.1	G	NM_001001917		6048812	-1	no_errors	ENST00000316650	ensembl	human	known	70_37	silent	SNP	0.516	A
OR8B2	26595	genome.wustl.edu	37	11	124253147	124253147	+	Silent	SNP	A	A	G	rs530704	byFrequency	TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr11:124253147A>G	ENST00000375013.2	-	1	111	c.93T>C	c.(91-93)ttT>ttC	p.F31F		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	31						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		AGATCACTAGAAACAGGAAAA	0.418																																																	0													210.0	177.0	188.0					11																	124253147		2201	4299	6500	SO:0001819	synonymous_variant	26595			AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"""GPCR / Class A : Olfactory receptors"""	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.93T>C	11.37:g.124253147A>G			Q8NGH2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F31	ENST00000375013.2	37	c.93	CCDS31708.1	11																																																																																			OR8B2	-	prints_GPCR_Rhodpsn		0.418	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B2	HGNC	protein_coding	OTTHUMT00000387290.1	A	NM_001005468		124253147	-1	no_errors	ENST00000375013	ensembl	human	known	70_37	silent	SNP	0.003	G
PARP14	54625	genome.wustl.edu	37	3	122418737	122418737	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:122418737G>A	ENST00000474629.2	+	6	1602	c.1336G>A	c.(1336-1338)Gag>Aag	p.E446K		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	446					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CCAAAGCATTGAGGTACAAGT	0.353																																																	0													92.0	86.0	88.0					3																	122418737		1854	4097	5951	SO:0001583	missense	54625			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.1336G>A	3.37:g.122418737G>A	ENSP00000418194:p.Glu446Lys		B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.E446K	ENST00000474629.2	37	c.1336	CCDS46894.1	3	.	.	.	.	.	.	.	.	.	.	G	11.97	1.796403	0.31777	.	.	ENSG00000173193	ENST00000474629;ENST00000398162	T	0.10668	2.85	5.32	4.38	0.52667	.	0.374478	0.23502	N	0.047498	T	0.16599	0.0399	M	0.69823	2.125	0.09310	N	1	P;P	0.52316	0.952;0.799	P;B	0.45639	0.488;0.276	T	0.11542	-1.0583	10	0.56958	D	0.05	.	9.5329	0.39205	0.1157:0.0:0.8843:0.0	.	446;446	Q460N5-4;Q460N5	.;PAR14_HUMAN	K	446;365	ENSP00000418194:E446K	ENSP00000381228:E365K	E	+	1	0	PARP14	123901427	0.012000	0.17670	0.012000	0.15200	0.032000	0.12392	1.144000	0.31565	1.301000	0.44836	0.655000	0.94253	GAG	PARP14	-	NULL		0.353	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP14	HGNC	protein_coding	OTTHUMT00000356173.2	G	NM_017554		122418737	+1	no_errors	ENST00000474629	ensembl	human	known	70_37	missense	SNP	0.204	A
PBX1	5087	genome.wustl.edu	37	1	164610544	164610544	+	Intron	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:164610544C>T	ENST00000420696.2	+	2	453				PBX1_ENST00000367897.1_Intron|PBX1_ENST00000559240.1_Intron|PBX1_ENST00000560641.1_Intron|PBX1_ENST00000474046.1_3'UTR|PBX1_ENST00000401534.1_Intron|PBX1_ENST00000540236.1_Intron|RNU6-171P_ENST00000384354.1_RNA	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1						adrenal gland development (GO:0030325)|anterior/posterior pattern specification (GO:0009952)|branching involved in ureteric bud morphogenesis (GO:0001658)|embryonic hemopoiesis (GO:0035162)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system development (GO:0048706)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|proximal/distal pattern formation (GO:0009954)|regulation of ossification (GO:0030278)|sex differentiation (GO:0007548)|spleen development (GO:0048536)|steroid biosynthetic process (GO:0006694)|thymus development (GO:0048538)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	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)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						ATCCATCTCTCTTGTCATTAG	0.527			T	"""TCF3, EWSR1"""	"""pre B-ALL, myoepithelioma"""																																			Dom	yes		1	1q23	5087	pre-B-cell leukemia transcription factor 1		"""L, M"""	0																																										SO:0001627	intron_variant	5087			M86546	CCDS1246.1, CCDS55654.1	1q23.3	2011-06-20	2007-01-30		ENSG00000185630	ENSG00000185630		"""Homeoboxes / TALE class"""	8632	protein-coding gene	gene with protein product		176310	"""pre-B-cell leukemia transcription factor 1"""				Standard	NM_002585		Approved		uc001gct.3	P40424	OTTHUMG00000034307	ENST00000420696.2:c.265+77996C>T	1.37:g.164610544C>T			B4DSC1|F5H4U9|Q5T488	RNA	SNP	-	NULL	ENST00000420696.2	37	NULL	CCDS1246.1	1																																																																																			PBX1	-	-		0.527	PBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PBX1	HGNC	protein_coding	OTTHUMT00000082864.4	C	NM_002585		164610544	+1	no_errors	ENST00000474046	ensembl	human	known	70_37	rna	SNP	0.000	T
PCDHB7	56129	genome.wustl.edu	37	5	140553782	140553782	+	Missense_Mutation	SNP	T	T	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr5:140553782T>A	ENST00000231137.3	+	1	1540	c.1366T>A	c.(1366-1368)Tac>Aac	p.Y456N		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN	protocadherin beta 7	456	Cadherin 5. {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(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCAAACCTCCTACACCCTGTT	0.602																																																	0													143.0	137.0	139.0					5																	140553782		2203	4300	6503	SO:0001583	missense	56129			AF152500	CCDS4249.1	5q31	2010-01-26			ENSG00000113212	ENSG00000113212		"""Cadherins / Protocadherins : Clustered"""	8692	other	protocadherin		606333				10380929	Standard	NM_018940		Approved	PCDH-BETA7	uc003lit.3	Q9Y5E2	OTTHUMG00000129608	ENST00000231137.3:c.1366T>A	5.37:g.140553782T>A	ENSP00000231137:p.Tyr456Asn		A1L3Y8	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Y456N	ENST00000231137.3	37	c.1366	CCDS4249.1	5	.	.	.	.	.	.	.	.	.	.	T	15.14	2.745805	0.49151	.	.	ENSG00000113212	ENST00000231137;ENST00000543636	T	0.01613	4.73	4.44	4.44	0.53790	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.16854	0.0405	H	0.95950	3.745	0.46185	D	0.998919	D	0.89917	1.0	D	0.97110	1.0	T	0.09271	-1.0682	9	0.87932	D	0	.	13.7057	0.62636	0.0:0.0:0.0:1.0	.	456	Q9Y5E2	PCDB7_HUMAN	N	456;239	ENSP00000231137:Y456N	ENSP00000231137:Y456N	Y	+	1	0	PCDHB7	140533966	0.988000	0.35896	0.995000	0.50966	0.138000	0.21146	3.098000	0.50259	1.761000	0.52028	0.451000	0.29950	TAC	PCDHB7	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin		0.602	PCDHB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB7	HGNC	protein_coding	OTTHUMT00000251803.2	T	NM_018940		140553782	+1	no_errors	ENST00000231137	ensembl	human	known	70_37	missense	SNP	0.998	A
PCED1A	64773	genome.wustl.edu	37	20	2816949	2816949	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr20:2816949C>T	ENST00000360652.2	-	7	1355	c.853G>A	c.(853-855)Gag>Aag	p.E285K	PCED1A_ENST00000356872.3_Missense_Mutation_p.E234K	NM_022760.4	NP_073597.2	Q9H1Q7	PED1A_HUMAN	PC-esterase domain containing 1A	285																	GCCCAGTCCTCAATCCACGGG	0.552																																																	0													101.0	100.0	101.0					20																	2816949		2203	4300	6503	SO:0001583	missense	64773			AK026029	CCDS13035.1, CCDS59442.1	20p13	2012-06-11	2012-06-11	2012-06-11	ENSG00000132635	ENSG00000132635			16212	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 81"", ""family with sequence similarity 113, member A"""	C20orf81, FAM113A		20056006	Standard	NM_022760		Approved	bA12M19.1, FLJ22376	uc002wgz.2	Q9H1Q7	OTTHUMG00000031716	ENST00000360652.2:c.853G>A	20.37:g.2816949C>T	ENSP00000353868:p.Glu285Lys		Q5JUA5|Q5JUA6|Q6PK19|Q86WF5|Q96CG7|Q9H1Q6|Q9H6D1	Missense_Mutation	SNP	superfamily_Esterase_SGNH_hydro-type	p.E285K	ENST00000360652.2	37	c.853	CCDS13035.1	20	.	.	.	.	.	.	.	.	.	.	C	8.024	0.760190	0.15846	.	.	ENSG00000132635	ENST00000356872;ENST00000360652	T;T	0.44482	0.92;0.92	3.67	2.72	0.32119	.	0.731256	0.12780	N	0.439771	T	0.20088	0.0483	N	0.08118	0	0.27841	N	0.941119	B;B;B;B	0.06786	0.001;0.0;0.001;0.001	B;B;B;B	0.09377	0.002;0.001;0.002;0.004	T	0.19192	-1.0313	10	0.19147	T	0.46	-4.3585	7.2173	0.25967	0.0:0.8785:0.0:0.1215	.	234;281;132;285	Q9H1Q7-2;D3DVX4;B4DEI2;Q9H1Q7	.;.;.;F113A_HUMAN	K	234;285	ENSP00000349334:E234K;ENSP00000353868:E285K	ENSP00000349334:E234K	E	-	1	0	FAM113A	2764949	0.980000	0.34600	1.000000	0.80357	0.985000	0.73830	1.021000	0.30040	1.120000	0.41904	0.561000	0.74099	GAG	PCED1A	-	NULL		0.552	PCED1A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PCED1A	HGNC	protein_coding	OTTHUMT00000077676.2	C	NM_022760		2816949	-1	no_errors	ENST00000360652	ensembl	human	known	70_37	missense	SNP	1.000	T
PDS5A	23244	genome.wustl.edu	37	4	39851196	39851196	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr4:39851196C>T	ENST00000303538.8	-	27	3702	c.3163G>A	c.(3163-3165)Gag>Aag	p.E1055K		NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TTGATGTTCTCTGCCATCTTC	0.368																																																	0													152.0	142.0	145.0					4																	39851196		1907	4131	6038	SO:0001583	missense	23244			AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.3163G>A	4.37:g.39851196C>T	ENSP00000303427:p.Glu1055Lys			Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E1055K	ENST00000303538.8	37	c.3163	CCDS47045.1	4	.	.	.	.	.	.	.	.	.	.	C	27.2	4.805091	0.90623	.	.	ENSG00000121892	ENST00000303538	.	.	.	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.80088	0.4559	M	0.75264	2.295	0.80722	D	1	D	0.71674	0.998	D	0.87578	0.998	T	0.79434	-0.1805	8	.	.	.	-14.7971	19.5899	0.95506	0.0:1.0:0.0:0.0	.	1055	Q29RF7	PDS5A_HUMAN	K	1055	.	.	E	-	1	0	PDS5A	39527591	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.723000	0.84788	2.612000	0.88384	0.655000	0.94253	GAG	PDS5A	-	NULL		0.368	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDS5A	HGNC	protein_coding	OTTHUMT00000361287.1	C	NM_015200		39851196	-1	no_errors	ENST00000303538	ensembl	human	known	70_37	missense	SNP	1.000	T
PFKL	5211	genome.wustl.edu	37	21	45733844	45733844	+	Silent	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr21:45733844C>T	ENST00000349048.4	+	7	742	c.687C>T	c.(685-687)ttC>ttT	p.F229F	PFKL_ENST00000403390.1_Silent_p.F276F|PFKL_ENST00000496824.1_3'UTR	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	229	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		ACTGGCTGTTCATCCCCGAGG	0.687																																																	0													24.0	24.0	24.0					21																	45733844		2191	4291	6482	SO:0001819	synonymous_variant	5211				CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.687C>T	21.37:g.45733844C>T			Q96A64|Q96IH4|Q9BR91	Silent	SNP	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.F276	ENST00000349048.4	37	c.828	CCDS33582.1	21																																																																																			PFKL	-	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk		0.687	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKL	HGNC	protein_coding	OTTHUMT00000195805.1	C			45733844	+1	no_errors	ENST00000403390	ensembl	human	known	70_37	silent	SNP	1.000	T
PGK2	5232	genome.wustl.edu	37	6	49754714	49754714	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:49754714G>A	ENST00000304801.3	-	1	339	c.187C>T	c.(187-189)Cat>Tat	p.H63Y		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	63	Substrate binding. {ECO:0000250}.				glycolytic process (GO:0006096)|phosphorylation (GO:0016310)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	ATP binding (GO:0005524)|phosphoglycerate kinase activity (GO:0004618)			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					CGACCTAGATGACTCATAAGA	0.478																																																	0													200.0	167.0	178.0					6																	49754714		2203	4300	6503	SO:0001583	missense	5232			K03019	CCDS4930.1	6p12.3	2012-09-20		2002-04-19	ENSG00000170950	ENSG00000170950			8898	protein-coding gene	gene with protein product		172270				3839763, 3453121	Standard	NM_138733		Approved	PGKPS, PGK-2	uc003ozu.3	P07205	OTTHUMG00000014824	ENST00000304801.3:c.187C>T	6.37:g.49754714G>A	ENSP00000305995:p.His63Tyr		B2R6Y8|Q9H107	Missense_Mutation	SNP	pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase	p.H63Y	ENST00000304801.3	37	c.187	CCDS4930.1	6	.	.	.	.	.	.	.	.	.	.	G	19.70	3.875823	0.72180	.	.	ENSG00000170950	ENST00000304801	D	0.96491	-4.03	4.09	4.09	0.47781	Phosphoglycerate kinase, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.99168	0.9712	H	0.99911	4.935	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.98074	1.0400	10	0.87932	D	0	-16.3944	14.5839	0.68310	0.0:0.0:1.0:0.0	.	63	P07205	PGK2_HUMAN	Y	63	ENSP00000305995:H63Y	ENSP00000305995:H63Y	H	-	1	0	PGK2	49862673	1.000000	0.71417	0.973000	0.42090	0.967000	0.64934	7.154000	0.77437	2.562000	0.86427	0.585000	0.79938	CAT	PGK2	-	pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase		0.478	PGK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGK2	HGNC	protein_coding	OTTHUMT00000040872.1	G			49754714	-1	no_errors	ENST00000304801	ensembl	human	known	70_37	missense	SNP	1.000	A
PGLYRP2	114770	genome.wustl.edu	37	19	15587259	15587259	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:15587259C>T	ENST00000340880.4	-	2	702	c.222G>A	c.(220-222)tgG>tgA	p.W74*	PGLYRP2_ENST00000292609.4_Nonsense_Mutation_p.W74*	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	74					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CATTGAGGCTCCATGCCCCCA	0.582																																																	0													99.0	73.0	81.0					19																	15587259		2203	4300	6503	SO:0001587	stop_gained	114770			AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.222G>A	19.37:g.15587259C>T	ENSP00000345968:p.Trp74*		A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Nonsense_Mutation	SNP	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain	p.W74*	ENST00000340880.4	37	c.222	CCDS12330.2	19	.	.	.	.	.	.	.	.	.	.	C	36	5.853985	0.97030	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	.	.	.	5.27	-4.24	0.03777	.	3.039610	0.01197	N	0.007494	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	-9.3607	5.1581	0.15046	0.0:0.3273:0.2614:0.4113	.	.	.	.	X	74	.	ENSP00000292609:W74X	W	-	3	0	PGLYRP2	15448259	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.889000	0.04144	-1.018000	0.03363	-0.251000	0.11542	TGG	PGLYRP2	-	NULL		0.582	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGLYRP2	HGNC	protein_coding	OTTHUMT00000319626.1	C	NM_052890		15587259	-1	no_errors	ENST00000292609	ensembl	human	known	70_37	nonsense	SNP	0.000	T
PHACTR3	116154	genome.wustl.edu	37	20	58381200	58381200	+	Missense_Mutation	SNP	G	G	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr20:58381200G>C	ENST00000371015.1	+	8	1746	c.1279G>C	c.(1279-1281)Gat>Cat	p.D427H	PHACTR3_ENST00000395636.2_Missense_Mutation_p.D386H|PHACTR3_ENST00000541461.1_Missense_Mutation_p.D386H|PHACTR3_ENST00000355648.4_Missense_Mutation_p.D386H|PHACTR3_ENST00000361300.4_Missense_Mutation_p.D316H|PHACTR3_ENST00000395639.4_Missense_Mutation_p.D316H|PHACTR3_ENST00000359926.3_Missense_Mutation_p.D424H	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	427						nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			CAGAAGGACTGATGAAGAAAG	0.557																																																	0													100.0	106.0	104.0					20																	58381200		2203	4300	6503	SO:0001583	missense	116154			AJ311122	CCDS13480.1, CCDS13481.1, CCDS42895.1, CCDS56202.1	20q13.32-q13.33	2014-06-13	2004-05-20	2004-05-20	ENSG00000087495	ENSG00000087495		"""Phosphatase and actin regulators"""	15833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 123"""	608725	"""chromosome 20 open reading frame 101"""	C20orf101		15107502	Standard	NM_001199505		Approved	PPP1R123	uc002yau.3	Q96KR7	OTTHUMG00000032869	ENST00000371015.1:c.1279G>C	20.37:g.58381200G>C	ENSP00000360054:p.Asp427His		B1AKX0|B1AN68|B1AN69|B2RB46|Q32P33|Q707P6|Q9H4T4	Missense_Mutation	SNP	pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat	p.D427H	ENST00000371015.1	37	c.1279	CCDS13480.1	20	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434806	0.43224	.	.	ENSG00000087495	ENST00000359926;ENST00000371015;ENST00000395639;ENST00000541461;ENST00000355648;ENST00000395636;ENST00000361300	T;T;T;T;T;T;T	0.36157	1.62;1.64;1.27;1.63;1.63;1.63;1.27	5.25	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.54967	0.1891	M	0.63843	1.955	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.997	D;D;D	0.67900	0.954;0.954;0.928	T	0.57694	-0.7767	10	0.87932	D	0	-13.3875	13.22	0.59881	0.0787:0.0:0.9213:0.0	.	316;427;424	Q96KR7-3;Q96KR7;B1AKX0	.;PHAR3_HUMAN;.	H	424;427;316;386;386;386;316	ENSP00000353002:D424H;ENSP00000360054:D427H;ENSP00000379001:D316H;ENSP00000442483:D386H;ENSP00000347866:D386H;ENSP00000378998:D386H;ENSP00000354555:D316H	ENSP00000347866:D386H	D	+	1	0	PHACTR3	57814595	1.000000	0.71417	0.016000	0.15963	0.038000	0.13279	8.030000	0.88816	2.460000	0.83146	0.650000	0.86243	GAT	PHACTR3	-	NULL		0.557	PHACTR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHACTR3	HGNC	protein_coding	OTTHUMT00000079923.3	G	NM_080672		58381200	+1	no_errors	ENST00000371015	ensembl	human	known	70_37	missense	SNP	0.985	C
PHLDA3	23612	genome.wustl.edu	37	1	201437750	201437750	+	Silent	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:201437750G>A	ENST00000367311.3	-	1	562	c.165C>T	c.(163-165)ttC>ttT	p.F55F	PHLDA3_ENST00000367309.1_Silent_p.F55F|PHLDA3_ENST00000485436.1_5'Flank	NM_012396.3	NP_036528.1	Q9Y5J5	PHLA3_HUMAN	pleckstrin homology-like domain, family A, member 3	55	PH.				anatomical structure morphogenesis (GO:0009653)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylinositol-5-phosphate binding (GO:0010314)			lung(1)|prostate(1)	2						TGATGCGGGCGAAGCTGAGCT	0.692																																																	0													33.0	38.0	36.0					1																	201437750		2203	4299	6502	SO:0001819	synonymous_variant	23612			AF151100	CCDS1412.1	1q31	2008-07-18			ENSG00000174307	ENSG00000174307			8934	protein-coding gene	gene with protein product	"""pleckstrin homology-like domain, family A, member 2"""	607054					Standard	NM_012396		Approved	TIH1	uc031prm.1	Q9Y5J5	OTTHUMG00000035767	ENST00000367311.3:c.165C>T	1.37:g.201437750G>A			B2R5A4|Q53HD6|Q8NBW9	Silent	SNP	smart_Pleckstrin_homology	p.F55	ENST00000367311.3	37	c.165	CCDS1412.1	1																																																																																			PHLDA3	-	smart_Pleckstrin_homology		0.692	PHLDA3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	PHLDA3	HGNC	protein_coding	OTTHUMT00000087020.2	G	NM_012396		201437750	-1	no_errors	ENST00000367309	ensembl	human	known	70_37	silent	SNP	1.000	A
PIEZO2	63895	genome.wustl.edu	37	18	10704485	10704485	+	Silent	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr18:10704485C>T	ENST00000503781.3	-	38	5825	c.5826G>A	c.(5824-5826)acG>acA	p.T1942T	PIEZO2_ENST00000302079.6_Silent_p.T1942T|PIEZO2_ENST00000580640.1_Silent_p.T1967T|RP11-856M7.2_ENST00000584167.1_RNA|PIEZO2_ENST00000285141.4_5'Flank|PIEZO2_ENST00000538948.1_5'Flank	NM_022068.2	NP_071351.2	Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	1942					cation transport (GO:0006812)|detection of mechanical stimulus involved in sensory perception (GO:0050974)|regulation of membrane potential (GO:0042391)|response to mechanical stimulus (GO:0009612)	integral component of membrane (GO:0016021)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)										GAAGCAGGAGCGTGATCATGG	0.572																																																	0													112.0	106.0	108.0					18																	10704485		692	1591	2283	SO:0001819	synonymous_variant	63895			AK027056		18p11.21	2012-11-19	2011-08-31	2011-08-31	ENSG00000154864	ENSG00000154864			26270	protein-coding gene	gene with protein product		613629	"""chromosome 18 open reading frame 30"", ""chromosome 18 open reading frame 58"", ""family with sequence similarity 38, member B"""	FAM38B2, C18orf30, C18orf58, FAM38B		20813920, 21056836, 21299953	Standard	NM_022068		Approved	FLJ23403, FLJ23144, HsT748, HsT771, FLJ34907	uc002kos.2	Q9H5I5	OTTHUMG00000178507	ENST00000503781.3:c.5826G>A	18.37:g.10704485C>T			B7Z812|M4GPJ9|Q6ZS91|Q8N787|Q8NAR6|Q9H5R4	Silent	SNP	pfam_DUF3595	p.T1967	ENST00000503781.3	37	c.5901		18																																																																																			PIEZO2	-	NULL		0.572	PIEZO2-003	NOVEL	basic|appris_principal	protein_coding	PIEZO2	HGNC	protein_coding	OTTHUMT00000442385.4	C	NM_022068		10704485	-1	no_errors	ENST00000580640	ensembl	human	novel	70_37	silent	SNP	0.474	T
PIK3C3	5289	genome.wustl.edu	37	18	39593471	39593471	+	Missense_Mutation	SNP	G	G	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr18:39593471G>C	ENST00000262039.4	+	11	1322	c.1236G>C	c.(1234-1236)aaG>aaC	p.K412N	PIK3C3_ENST00000398870.3_Missense_Mutation_p.K349N	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	412	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						ATGATATAAAGAATGGATTGG	0.318										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)												0													86.0	94.0	91.0					18																	39593471		2203	4298	6501	SO:0001583	missense	5289			Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.1236G>C	18.37:g.39593471G>C	ENSP00000262039:p.Lys412Asn		Q15134	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom	p.K412N	ENST00000262039.4	37	c.1236	CCDS11920.1	18	.	.	.	.	.	.	.	.	.	.	G	12.31	1.898573	0.33535	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.64618	-0.11;0.27	5.34	5.34	0.76211	Phosphoinositide 3-kinase, accessory (PIK) domain (2);Armadillo-type fold (1);	1.128250	0.06509	N	0.737704	T	0.45013	0.1321	N	0.05230	-0.09	0.80722	D	1	B;B	0.16396	0.017;0.0	B;B	0.15870	0.014;0.009	T	0.03287	-1.1052	9	.	.	.	.	14.6749	0.68972	0.0723:0.0:0.9277:0.0	.	349;412	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	N	412;349	ENSP00000262039:K412N;ENSP00000381845:K349N	.	K	+	3	2	PIK3C3	37847469	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.747000	0.47475	2.649000	0.89929	0.650000	0.86243	AAG	PIK3C3	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,pirsf_PI3K_Vps34		0.318	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C3	HGNC	protein_coding	OTTHUMT00000255804.1	G	NM_002647		39593471	+1	no_errors	ENST00000262039	ensembl	human	known	70_37	missense	SNP	1.000	C
PIK3CA	5290	genome.wustl.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56.0	56.0	56.0					3																	178936082		1809	4069	5878	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	G			178936082	+1	no_errors	ENST00000263967	ensembl	human	known	70_37	missense	SNP	1.000	A
PKHD1L1	93035	genome.wustl.edu	37	8	110463247	110463247	+	Silent	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr8:110463247G>A	ENST00000378402.5	+	41	6323	c.6219G>A	c.(6217-6219)ggG>ggA	p.G2073G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2073	IPT/TIG 13.				immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TGGTTAATGGGAAAGATTTGT	0.507										HNSCC(38;0.096)	OREG0018931	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													112.0	122.0	118.0					8																	110463247		2117	4233	6350	SO:0001819	synonymous_variant	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.6219G>A	8.37:g.110463247G>A		1427	Q567P2|Q9UF27	Silent	SNP	pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1	p.G2073	ENST00000378402.5	37	c.6219	CCDS47911.1	8																																																																																			PKHD1L1	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt		0.507	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKHD1L1	HGNC	protein_coding	OTTHUMT00000381017.1	G	NM_177531		110463247	+1	no_errors	ENST00000378402	ensembl	human	known	70_37	silent	SNP	0.979	A
PLA2G6	8398	genome.wustl.edu	37	22	38512122	38512122	+	Silent	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr22:38512122G>A	ENST00000332509.3	-	13	2022	c.1839C>T	c.(1837-1839)ttC>ttT	p.F613F	PLA2G6_ENST00000402064.1_Silent_p.F559F|PLA2G6_ENST00000335539.3_Silent_p.F559F	NM_003560.2	NP_003551.2	O60733	PLPL9_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	613	Patatin.				cardiolipin acyl-chain remodeling (GO:0035965)|cardiolipin biosynthetic process (GO:0032049)|cell death (GO:0008219)|chemotaxis (GO:0006935)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|maternal process involved in female pregnancy (GO:0060135)|memory (GO:0007613)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of ceramide biosynthetic process (GO:2000304)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of exocytosis (GO:0045921)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of vasodilation (GO:0045909)|regulation of store-operated calcium channel activity (GO:1901339)|response to endoplasmic reticulum stress (GO:0034976)|small molecule metabolic process (GO:0044281)|urinary bladder smooth muscle contraction (GO:0014832)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipase A2 activity (GO:0004623)			breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CGTTCTGGTTGAAACGAGGCT	0.582																																																	0													78.0	73.0	75.0					22																	38512122		2203	4300	6503	SO:0001819	synonymous_variant	8398			AF064594	CCDS13967.1, CCDS33645.1	22q13.1	2013-01-10			ENSG00000184381	ENSG00000184381	3.1.1.4	"""Patatin-like phospholipase domain containing"", ""Parkinson disease"", ""Ankyrin repeat domain containing"""	9039	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 2"""	603604				9417066, 16799181, 19029121	Standard	NM_001199562		Approved	iPLA2, PNPLA9, PARK14, iPLA2beta, NBIA2	uc003aux.1	O60733	OTTHUMG00000151246	ENST00000332509.3:c.1839C>T	22.37:g.38512122G>A			A8K597|B0QYE8|O75645|Q8N452|Q9UG29|Q9UIT0|Q9Y671	Silent	SNP	pfam_Ankyrin_rpt,pfam_Patatin/PLipase_A2-rel,superfamily_Ankyrin_rpt-contain_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.F613	ENST00000332509.3	37	c.1839	CCDS13967.1	22																																																																																			PLA2G6	-	pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase		0.582	PLA2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G6	HGNC	protein_coding	OTTHUMT00000321860.1	G	NM_001004426		38512122	-1	no_errors	ENST00000332509	ensembl	human	known	70_37	silent	SNP	0.006	A
PLCB3	5331	genome.wustl.edu	37	11	64023987	64023987	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr11:64023987G>A	ENST00000540288.1	+	9	941	c.838G>A	c.(838-840)Gag>Aag	p.E280K	PLCB3_ENST00000325234.5_Missense_Mutation_p.E213K|PLCB3_ENST00000279230.6_Missense_Mutation_p.E280K	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	280					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CGAAAAGTATGAGCCCAACCA	0.642																																																	0													80.0	96.0	91.0					11																	64023987		2201	4297	6498	SO:0001583	missense	5331			Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.838G>A	11.37:g.64023987G>A	ENSP00000443631:p.Glu280Lys		A5PKZ6|G5E960|Q8N1A4	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.E280K	ENST00000540288.1	37	c.838	CCDS8064.1	11	.	.	.	.	.	.	.	.	.	.	G	36	5.696110	0.96802	.	.	ENSG00000149782	ENST00000279230;ENST00000540288;ENST00000325234	T;T;T	0.59224	0.28;0.28;0.28	5.41	5.41	0.78517	Phospholipase C, phosphoinositol-specific, EF-hand-like (1);EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.81730	0.4884	M	0.91140	3.18	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.991	D	0.85873	0.1417	10	0.87932	D	0	.	17.9779	0.89132	0.0:0.0:1.0:0.0	.	213;280	G5E960;Q01970	.;PLCB3_HUMAN	K	280;280;213	ENSP00000279230:E280K;ENSP00000443631:E280K;ENSP00000324660:E213K	ENSP00000279230:E280K	E	+	1	0	PLCB3	63780563	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	9.718000	0.98758	2.543000	0.85770	0.561000	0.74099	GAG	PLCB3	-	pirsf_PLC-beta,pfam_PLipase_C_EF-hand-like		0.642	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	PLCB3	HGNC	protein_coding	OTTHUMT00000396405.1	G			64023987	+1	no_errors	ENST00000279230	ensembl	human	known	70_37	missense	SNP	1.000	A
PLCD1	5333	genome.wustl.edu	37	3	38051397	38051397	+	Missense_Mutation	SNP	C	C	G			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:38051397C>G	ENST00000334661.4	-	8	1507	c.1285G>C	c.(1285-1287)Gag>Cag	p.E429Q	PLCD1_ENST00000479619.1_5'Flank|PLCD1_ENST00000463876.1_Missense_Mutation_p.E450Q	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	429	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CCACACACCTCAGGGGAGGGC	0.672																																																	0													19.0	20.0	19.0					3																	38051397		2198	4287	6485	SO:0001583	missense	5333				CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"""EF-hand domain containing"""	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.1285G>C	3.37:g.38051397C>G	ENSP00000335600:p.Glu429Gln		B3KR14|Q86VN8	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.E450Q	ENST00000334661.4	37	c.1348	CCDS2671.1	3	.	.	.	.	.	.	.	.	.	.	C	16.49	3.138518	0.56936	.	.	ENSG00000187091	ENST00000463876;ENST00000334661	T;T	0.66460	-0.21;-0.21	4.98	4.98	0.66077	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.000000	0.85682	D	0.000000	D	0.82476	0.5045	M	0.78344	2.41	0.80722	D	1	D;D	0.89917	1.0;0.995	D;D	0.97110	1.0;0.951	D	0.83578	0.0116	10	0.51188	T	0.08	.	18.6149	0.91299	0.0:1.0:0.0:0.0	.	429;450	P51178;B3KR14	PLCD1_HUMAN;.	Q	450;429	ENSP00000430344:E450Q;ENSP00000335600:E429Q	ENSP00000335600:E429Q	E	-	1	0	PLCD1	38026401	1.000000	0.71417	0.978000	0.43139	0.132000	0.20833	7.710000	0.84655	2.491000	0.84063	0.555000	0.69702	GAG	PLCD1	-	pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C		0.672	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCD1	HGNC	protein_coding	OTTHUMT00000253359.2	C			38051397	-1	no_errors	ENST00000463876	ensembl	human	known	70_37	missense	SNP	1.000	G
PLEKHD1	400224	genome.wustl.edu	37	14	69995111	69995111	+	Missense_Mutation	SNP	C	C	T	rs200825554	byFrequency	TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr14:69995111C>T	ENST00000322564.7	+	13	1708	c.1496C>T	c.(1495-1497)tCg>tTg	p.S499L		NM_001161498.1	NP_001154970.1	A6NEE1	PLHD1_HUMAN	pleckstrin homology domain containing, family D (with coiled-coil domains) member 1	499										breast(1)|endometrium(1)|kidney(2)	4						GGAGCCCCCTCGGCACTCTCC	0.662													C|||	18	0.00359425	0.0129	0.0014	5008	,	,		15366	0.0		0.0	False		,,,				2504	0.0																0								C	LEU/SER	11,1373		0,11,681	38.0	45.0	43.0		1496	3.4	0.0	14		43	1,3181		0,1,1590	yes	missense	PLEKHD1	NM_001161498.1	145	0,12,2271	TT,TC,CC		0.0314,0.7948,0.2628	benign	499/507	69995111	12,4554	692	1591	2283	SO:0001583	missense	400224			AK126770	CCDS53903.1	14q24.1	2013-01-10	2011-05-04		ENSG00000175985	ENSG00000175985		"""Pleckstrin homology (PH) domain containing"""	20148	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family D (with M protein repeats) member 1"""				Standard	NM_001161498		Approved	UPF0639	uc010ttf.1	A6NEE1		ENST00000322564.7:c.1496C>T	14.37:g.69995111C>T	ENSP00000317175:p.Ser499Leu		B9EJC2	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.S499L	ENST00000322564.7	37	c.1496	CCDS53903.1	14	.	.	.	.	.	.	.	.	.	.	C	11.47	1.647433	0.29246	0.007948	3.14E-4	ENSG00000175985	ENST00000322564	.	.	.	5.24	3.44	0.39384	.	.	.	.	.	T	0.12603	0.0306	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24621	-1.0155	7	.	.	.	.	8.3898	0.32522	0.0:0.7561:0.0:0.2439	.	499	B9EJC2	.	L	499	.	.	S	+	2	0	PLEKHD1	69064864	0.000000	0.05858	0.004000	0.12327	0.007000	0.05969	0.674000	0.25218	0.620000	0.30215	-0.119000	0.15052	TCG	PLEKHD1	-	NULL		0.662	PLEKHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHD1	HGNC	protein_coding	OTTHUMT00000412451.2	C	NM_001161498		69995111	+1	no_errors	ENST00000322564	ensembl	human	known	70_37	missense	SNP	0.006	T
PLGLB1	5343	genome.wustl.edu	37	2	87248858	87248858	+	Splice_Site	SNP	C	C	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr2:87248858C>A	ENST00000355705.3	-	1	117	c.49G>T	c.(49-51)Ggt>Tgt	p.G17C	PLGLB1_ENST00000409310.2_Splice_Site_p.G17C	NM_001032392.2	NP_001027564.1	Q02325	PLGB_HUMAN	plasminogen-like B1	17						extracellular region (GO:0005576)				large_intestine(1)	1						TATGTCTTACCTGATTTCAGA	0.348																																																	0													1.0	2.0	1.0					2																	87248858		204	798	1002	SO:0001630	splice_region_variant	5343			M86874, M86875, M86876	CCDS33238.1	2p11.2	2008-02-05	2005-03-31	2005-03-31	ENSG00000183281	ENSG00000183281			9072	protein-coding gene	gene with protein product		173340	"""plasminogen-like"""	PLGL		1554698, 2714803	Standard	NM_001032392		Approved	PRP-B		Q02325	OTTHUMG00000154612	ENST00000355705.3:c.49+1G>T	2.37:g.87248858C>A			Q580R1	Missense_Mutation	SNP	pfam_PAN-1_domain,smart_Pan_app,pfscan_Pan_app	p.G17C	ENST00000355705.3	37	c.49	CCDS33238.1	2	.	.	.	.	.	.	.	.	.	.	c	14.05	2.419280	0.42918	.	.	ENSG00000183281	ENST00000409310;ENST00000355705	T;T	0.64618	-0.11;-0.11	1.13	1.13	0.20643	Apple-like (1);	.	.	.	.	T	0.71888	0.3393	.	.	.	0.28872	N	0.894883	D	0.89917	1.0	D	0.91635	0.999	T	0.60964	-0.7158	7	.	.	.	.	5.651	0.17616	0.0:1.0:0.0:0.0	.	17	Q02325	PLGB_HUMAN	C	17	ENSP00000386505:G17C;ENSP00000347933:G17C	.	G	-	1	0	PLGLB1	87102369	1.000000	0.71417	0.949000	0.38748	0.422000	0.31414	1.761000	0.38440	0.921000	0.36994	0.184000	0.17185	GGT	PLGLB1	-	pfscan_Pan_app		0.348	PLGLB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLGLB1	HGNC	protein_coding	OTTHUMT00000330379.1	C		Missense_Mutation	87248858	-1	no_errors	ENST00000355705	ensembl	human	known	70_37	missense	SNP	0.975	A
PLXNA3	55558	genome.wustl.edu	37	X	153694817	153694817	+	Silent	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chrX:153694817C>T	ENST00000369682.3	+	16	3073	c.2898C>T	c.(2896-2898)gtC>gtT	p.V966V		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	966	IPT/TIG 2.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCAGCAGGGTCACAGTGACTG	0.662																																																	0													52.0	60.0	57.0					X																	153694817		2203	4299	6502	SO:0001819	synonymous_variant	55558			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.2898C>T	X.37:g.153694817C>T			Q5HY36	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.V966	ENST00000369682.3	37	c.2898	CCDS14752.1	X																																																																																			PLXNA3	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt		0.662	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	C	NM_017514		153694817	+1	no_errors	ENST00000369682	ensembl	human	known	70_37	silent	SNP	0.045	T
PML	5371	genome.wustl.edu	37	15	74336918	74336918	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr15:74336918G>A	ENST00000268058.3	+	9	2314	c.2218G>A	c.(2218-2220)Gag>Aag	p.E740K	PML_ENST00000565898.1_Missense_Mutation_p.E692K	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia	740					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						AAACATGAGCGAGCGCAGCGC	0.672			T	"""RARA, PAX5"""	"""APL, ALL"""																																			Dom	yes		15	15q22	5371	promyelocytic leukemia		L	0													24.0	27.0	26.0					15																	74336918		2198	4296	6494	SO:0001583	missense	5371			AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.2218G>A	15.37:g.74336918G>A	ENSP00000268058:p.Glu740Lys		E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Missense_Mutation	SNP	pfam_DUF3583,pfam_Znf_B-box,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.E740K	ENST00000268058.3	37	c.2218	CCDS10255.1	15	.	.	.	.	.	.	.	.	.	.	G	12.96	2.094240	0.36952	.	.	ENSG00000140464	ENST00000268058;ENST00000417341;ENST00000418568	T	0.46063	0.88	5.18	4.27	0.50696	.	0.358030	0.23993	N	0.042553	T	0.28001	0.0690	L	0.27053	0.805	0.23168	N	0.998189	B;B	0.24132	0.032;0.098	B;B	0.17433	0.007;0.018	T	0.21827	-1.0234	10	0.72032	D	0.01	-8.7593	7.64	0.28288	0.1852:0.0:0.8148:0.0	.	740;692	P29590;P29590-11	PML_HUMAN;.	K	740;301;723	ENSP00000268058:E740K	ENSP00000268058:E740K	E	+	1	0	PML	72123971	0.211000	0.23529	0.010000	0.14722	0.658000	0.38924	2.415000	0.44635	1.412000	0.46977	0.563000	0.77884	GAG	PML	-	NULL		0.672	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PML	HGNC	protein_coding	OTTHUMT00000269021.3	G	NM_002675		74336918	+1	no_errors	ENST00000268058	ensembl	human	known	70_37	missense	SNP	0.025	A
PMPCA	23203	genome.wustl.edu	37	9	139309033	139309033	+	Missense_Mutation	SNP	G	G	C	rs543713243	byFrequency	TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr9:139309033G>C	ENST00000371717.3	+	5	475	c.466G>C	c.(466-468)Gat>Cat	p.D156H	PMPCA_ENST00000399219.3_Intron|PMPCA_ENST00000371720.1_Intron	NM_001282946.1|NM_015160.1	NP_001269875.1|NP_055975.1	Q10713	MPPA_HUMAN	peptidase (mitochondrial processing) alpha	156					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		TGTGTCTGCTGATAGCAAAGG	0.572																																																	0													169.0	152.0	158.0					9																	139309033		2203	4300	6503	SO:0001583	missense	23203			D21064	CCDS35180.1, CCDS65192.1	9q34.3	2008-02-05	2003-06-13	2003-06-20	ENSG00000165688	ENSG00000165688			18667	protein-coding gene	gene with protein product		613036	"""inositol polyphosphate-5-phosphatase, 72 kD"""	INPP5E		8590280, 7788527	Standard	NM_015160		Approved	KIAA0123, Alpha-MPP	uc004chl.3	Q10713	OTTHUMG00000020926	ENST00000371717.3:c.466G>C	9.37:g.139309033G>C	ENSP00000360782:p.Asp156His		B4DKL3|E7ET61|Q16639|Q5SXM9|Q8N513	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.D156H	ENST00000371717.3	37	c.466	CCDS35180.1	9	.	.	.	.	.	.	.	.	.	.	G	16.52	3.145305	0.57044	.	.	ENSG00000165688	ENST00000371717	T	0.42131	0.98	5.53	5.53	0.82687	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.097405	0.64402	D	0.000001	T	0.39064	0.1064	L	0.47190	1.495	0.80722	D	1	B;B;B	0.26318	0.146;0.097;0.097	B;B;B	0.27715	0.06;0.082;0.082	T	0.17048	-1.0382	10	0.15499	T	0.54	.	18.4525	0.90709	0.0:0.0:1.0:0.0	.	156;156;156	B4DRK5;Q5SXM9;Q10713	.;.;MPPA_HUMAN	H	156	ENSP00000360782:D156H	ENSP00000360782:D156H	D	+	1	0	PMPCA	138428854	1.000000	0.71417	0.952000	0.39060	0.992000	0.81027	9.425000	0.97467	2.578000	0.87016	0.650000	0.86243	GAT	PMPCA	-	pfam_Pept_M16_N,superfamily_Metalloenz_metal-bd		0.572	PMPCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMPCA	HGNC	protein_coding	OTTHUMT00000055054.1	G	NM_015160		139309033	+1	no_errors	ENST00000371717	ensembl	human	known	70_37	missense	SNP	1.000	C
PMS2	5395	genome.wustl.edu	37	7	6027075	6027075	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr7:6027075C>T	ENST00000265849.7	-	11	1426	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K	PMS2_ENST00000441476.2_Missense_Mutation_p.E335K|PMS2_ENST00000406569.3_Missense_Mutation_p.E441K|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000469652.1_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	441					ATP catabolic process (GO:0006200)|mismatch repair (GO:0006298)|response to drug (GO:0042493)|somatic hypermutation of immunoglobulin genes (GO:0016446)|somatic recombination of immunoglobulin gene segments (GO:0016447)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|endonuclease activity (GO:0004519)|single base insertion or deletion binding (GO:0032138)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CTTCTTGGTTCTGGAGTCTTT	0.502			"""Mis, N, F"""			"""colorectal, endometrial, ovarian, medulloblastoma, glioma"""		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec		"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	7	7p22	5395	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)		E	0													65.0	61.0	62.0					7																	6027075		2203	4300	6503	SO:0001583	missense	5395	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III		CCDS5343.1	7p22.1	2014-09-17	2001-11-28		ENSG00000122512	ENSG00000122512			9122	protein-coding gene	gene with protein product		600259	"""postmeiotic segregation increased (S. cerevisiae) 2"""	PMSL2		8072530	Standard	NM_000535		Approved	H_DJ0042M02.9, HNPCC4	uc003spl.3	P54278	OTTHUMG00000023135	ENST00000265849.7:c.1321G>A	7.37:g.6027075C>T	ENSP00000265849:p.Glu441Lys		B2R610|Q52LH6|Q5FBW9|Q5FBX1|Q5FBX2|Q75MR2	Missense_Mutation	SNP	pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N	p.E441K	ENST00000265849.7	37	c.1321	CCDS5343.1	7	.	.	.	.	.	.	.	.	.	.	c	5.861	0.343115	0.11069	.	.	ENSG00000122512	ENST00000265849;ENST00000382322;ENST00000441476;ENST00000406569	T;T;D	0.85484	1.09;1.09;-1.99	5.37	4.27	0.50696	.	1.584890	0.03317	N	0.191427	T	0.75982	0.3924	L	0.38531	1.155	0.09310	N	1	B;B;B	0.13594	0.008;0.0;0.001	B;B;B	0.10450	0.005;0.001;0.004	T	0.64219	-0.6459	10	0.05959	T	0.93	-4.5308	3.9955	0.09556	0.0:0.6748:0.0:0.3252	.	441;441;335	P54278-3;P54278;C9J167	.;PMS2_HUMAN;.	K	441;394;335;441	ENSP00000265849:E441K;ENSP00000392843:E335K;ENSP00000384308:E441K	ENSP00000265849:E441K	E	-	1	0	PMS2	5993601	0.080000	0.21391	0.020000	0.16555	0.010000	0.07245	1.554000	0.36266	2.689000	0.91719	0.650000	0.86243	GAA	PMS2	-	NULL		0.502	PMS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PMS2	HGNC	protein_coding	OTTHUMT00000207353.3	C	NM_000535		6027075	-1	no_errors	ENST00000265849	ensembl	human	known	70_37	missense	SNP	0.090	T
PNRC1	10957	genome.wustl.edu	37	6	89790830	89790830	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:89790830C>T	ENST00000336032.3	+	1	334	c.217C>T	c.(217-219)Cgc>Tgc	p.R73C	PNRC1_ENST00000354922.3_5'Flank|PNRC1_ENST00000369472.1_Intron|RP11-63L7.5_ENST00000606729.1_RNA	NM_006813.2	NP_006804.1	Q12796	PNRC1_HUMAN	proline-rich nuclear receptor coactivator 1	73					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(1)|large_intestine(2)|lung(3)	6		all_cancers(76;3.64e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.102)		CCCCCAGCCTCGCGCTCCAGC	0.706										Multiple Myeloma(7;0.094)																																							0													12.0	14.0	13.0					6																	89790830		2200	4290	6490	SO:0001583	missense	10957			U03105	CCDS5018.1	6q16.1	2008-02-05	2003-09-25	2003-09-26	ENSG00000146278	ENSG00000146278			17278	protein-coding gene	gene with protein product		606714	"""proline rich 2"""	PROL2		7578250	Standard	NM_006813		Approved	B4-2, PRR2	uc003pmv.3	Q12796	OTTHUMG00000015191	ENST00000336032.3:c.217C>T	6.37:g.89790830C>T	ENSP00000336931:p.Arg73Cys		B2R6Q0|E1P515|Q5T7J6|Q7Z5N0	Missense_Mutation	SNP	NULL	p.R73C	ENST00000336032.3	37	c.217	CCDS5018.1	6	.	.	.	.	.	.	.	.	.	.	C	12.91	2.080339	0.36662	.	.	ENSG00000146278	ENST00000336032	T	0.47528	0.84	4.93	4.05	0.47172	.	0.279283	0.29861	N	0.011018	T	0.38054	0.1026	L	0.44542	1.39	0.24876	N	0.992257	D;D	0.71674	0.998;0.998	P;P	0.59288	0.736;0.855	T	0.18178	-1.0345	10	0.59425	D	0.04	-2.6705	8.4979	0.33138	0.1526:0.7678:0.0:0.0796	.	73;73	Q12796;Q7Z5N0	PNRC1_HUMAN;.	C	73	ENSP00000336931:R73C	ENSP00000336931:R73C	R	+	1	0	PNRC1	89847549	0.978000	0.34361	0.056000	0.19401	0.028000	0.11728	3.073000	0.50057	1.276000	0.44395	0.555000	0.69702	CGC	PNRC1	-	NULL		0.706	PNRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNRC1	HGNC	protein_coding	OTTHUMT00000041471.1	C	NM_006813		89790830	+1	no_errors	ENST00000336032	ensembl	human	known	70_37	missense	SNP	0.115	T
POLD2	5425	genome.wustl.edu	37	7	44155465	44155465	+	Silent	SNP	C	C	G	rs374181613		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr7:44155465C>G	ENST00000406581.2	-	10	1696	c.1047G>C	c.(1045-1047)gtG>gtC	p.V349V	POLD2_ENST00000452185.1_Silent_p.V349V|POLD2_ENST00000223361.3_Silent_p.V349V	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	349					base-excision repair (GO:0006284)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	delta DNA polymerase complex (GO:0043625)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						AAATGTCACTCACGTTCTGTC	0.562																																																	0													170.0	152.0	158.0					7																	44155465		2203	4300	6503	SO:0001819	synonymous_variant	5425				CCDS5477.1, CCDS75586.1	7p13	2012-05-18	2012-05-18		ENSG00000106628	ENSG00000106628		"""DNA polymerases"""	9176	protein-coding gene	gene with protein product	"""Pol delta B subunit (p50)"", ""DNA polymerase delta subunit p50"""	600815	"""polymerase (DNA directed), delta 2, regulatory subunit (50kD)"", ""polymerase (DNA directed), delta 2, regulatory subunit 50kDa"""			8530069	Standard	NM_001127218		Approved		uc003tkf.5	P49005	OTTHUMG00000022909	ENST00000406581.2:c.1047G>C	7.37:g.44155465C>G			A4D2J4|B2R5S4	Silent	SNP	pfam_DNA_pol_alpha/epsilon_bsu	p.V349	ENST00000406581.2	37	c.1047	CCDS5477.1	7																																																																																			POLD2	-	pfam_DNA_pol_alpha/epsilon_bsu		0.562	POLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLD2	HGNC	protein_coding	OTTHUMT00000250994.2	C	NM_001127218		44155465	-1	no_errors	ENST00000406581	ensembl	human	known	70_37	silent	SNP	1.000	G
PPP6R2	9701	genome.wustl.edu	37	22	50876641	50876641	+	Silent	SNP	C	C	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr22:50876641C>A	ENST00000216061.5	+	19	2248	c.1878C>A	c.(1876-1878)cgC>cgA	p.R626R	PPP6R2_ENST00000395741.3_Silent_p.R600R|PPP6R2_ENST00000359139.3_Silent_p.R599R|PPP6R2_ENST00000395744.3_Silent_p.R599R			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	626						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						GCAGTGACCGCATCCAGCCCT	0.627																																																	0													112.0	111.0	112.0					22																	50876641		2203	4300	6503	SO:0001819	synonymous_variant	9701			AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.1878C>A	22.37:g.50876641C>A			A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Silent	SNP	pfam_SAPS,superfamily_ARM-type_fold	p.R626	ENST00000216061.5	37	c.1878		22																																																																																			PPP6R2	-	NULL		0.627	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	PPP6R2	HGNC	protein_coding	OTTHUMT00000316809.1	C	NM_014678		50876641	+1	no_errors	ENST00000216061	ensembl	human	known	70_37	silent	SNP	0.992	A
PREX1	57580	genome.wustl.edu	37	20	47260976	47260976	+	Missense_Mutation	SNP	G	G	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr20:47260976G>C	ENST00000371941.3	-	27	3594	c.3572C>G	c.(3571-3573)tCc>tGc	p.S1191C	PREX1_ENST00000496915.1_5'Flank|PREX1_ENST00000396220.1_Missense_Mutation_p.S1191C	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1191					actin filament polymerization (GO:0030041)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|neutrophil activation (GO:0042119)|neutrophil chemotaxis (GO:0030593)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of actin filament polymerization (GO:0030833)|regulation of dendrite development (GO:0050773)|superoxide metabolic process (GO:0006801)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|phospholipid binding (GO:0005543)|Rho GTPase activator activity (GO:0005100)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCCCAAGTAGGAGCTGTTACT	0.562																																																	0													100.0	78.0	85.0					20																	47260976		2203	4300	6503	SO:0001583	missense	57580			AB037836	CCDS13410.1	20q13.13	2013-01-10	2008-09-15		ENSG00000124126	ENSG00000124126		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	32594	protein-coding gene	gene with protein product		606905				11955434, 15545267, 16301320	Standard	NM_020820		Approved	KIAA1415, P-REX1	uc002xtw.1	Q8TCU6	OTTHUMG00000032685	ENST00000371941.3:c.3572C>G	20.37:g.47260976G>C	ENSP00000361009:p.Ser1191Cys		E1P5X9|Q5JS95|Q5JS96|Q69YL2|Q7Z2L9|Q9BQH0|Q9BX55|Q9H4Q6|Q9P2D2|Q9UGQ4	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.S1191C	ENST00000371941.3	37	c.3572	CCDS13410.1	20	.	.	.	.	.	.	.	.	.	.	G	27.1	4.804205	0.90623	.	.	ENSG00000124126	ENST00000371941;ENST00000396220	T;T	0.58797	0.31;0.31	5.14	5.14	0.70334	.	0.000000	0.53938	U	0.000050	T	0.75635	0.3876	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78505	-0.2178	10	0.87932	D	0	.	18.626	0.91338	0.0:0.0:1.0:0.0	.	1191;488	Q8TCU6;Q8TCU6-2	PREX1_HUMAN;.	C	1191	ENSP00000361009:S1191C;ENSP00000379522:S1191C	ENSP00000361009:S1191C	S	-	2	0	PREX1	46694383	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.398000	0.81561	0.655000	0.94253	TCC	PREX1	-	NULL		0.562	PREX1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PREX1	HGNC	protein_coding	OTTHUMT00000079623.1	G	NM_020820		47260976	-1	no_errors	ENST00000371941	ensembl	human	known	70_37	missense	SNP	1.000	C
PRKCI	5584	genome.wustl.edu	37	3	169998189	169998189	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:169998189G>A	ENST00000295797.4	+	9	1185	c.880G>A	c.(880-882)Gag>Aag	p.E294K		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	294	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	TAATGATGATGAGGTAAGCAC	0.353																																																	0													74.0	73.0	73.0					3																	169998189		2203	4300	6503	SO:0001583	missense	5584				CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.880G>A	3.37:g.169998189G>A	ENSP00000295797:p.Glu294Lys		D3DNQ4|Q8WW06	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.E294K	ENST00000295797.4	37	c.880	CCDS3212.2	3	.	.	.	.	.	.	.	.	.	.	G	36	5.965411	0.97151	.	.	ENSG00000163558	ENST00000295797	T	0.63744	-0.06	5.77	5.77	0.91146	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.66086	0.2754	N	0.11724	0.165	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.64504	-0.6392	9	.	.	.	.	20.3472	0.98799	0.0:0.0:1.0:0.0	.	294	P41743	KPCI_HUMAN	K	294	ENSP00000295797:E294K	.	E	+	1	0	PRKCI	171480883	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.459000	0.97638	2.890000	0.99128	0.650000	0.86243	GAG	PRKCI	-	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,pirsf_PKC_zeta,pfscan_Prot_kinase_cat_dom		0.353	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCI	HGNC	protein_coding	OTTHUMT00000316866.3	G	NM_002740		169998189	+1	no_errors	ENST00000295797	ensembl	human	known	70_37	missense	SNP	1.000	A
PTPN13	5783	genome.wustl.edu	37	4	87671990	87671990	+	Silent	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr4:87671990G>A	ENST00000411767.2	+	18	3081	c.3018G>A	c.(3016-3018)caG>caA	p.Q1006Q	PTPN13_ENST00000427191.2_Silent_p.Q1006Q|PTPN13_ENST00000436978.1_Silent_p.Q1006Q|PTPN13_ENST00000511467.1_Silent_p.Q1006Q|PTPN13_ENST00000316707.6_Intron			Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1006					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cell body (GO:0044297)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein tyrosine phosphatase activity (GO:0004725)			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CTTCTCACCAGATGTCAAGAT	0.393																																																	0													51.0	49.0	49.0					4																	87671990		1862	4091	5953	SO:0001819	synonymous_variant	5783				CCDS47093.1, CCDS47094.1, CCDS47095.1, CCDS47096.1	4q21.3	2011-06-09			ENSG00000163629	ENSG00000163629		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9646	protein-coding gene	gene with protein product		600267				8287977	Standard	NM_006264		Approved	PTP1E, PTP-BAS, PTPL1, PTP-BL	uc003hpy.3	Q12923	OTTHUMG00000160968	ENST00000411767.2:c.3018G>A	4.37:g.87671990G>A			B2RTR0|Q15159|Q15263|Q15264|Q15265|Q15674|Q16826|Q8IWH7|Q9NYN9|Q9UDA8	Silent	SNP	pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.Q1006	ENST00000411767.2	37	c.3018	CCDS47094.1	4																																																																																			PTPN13	-	pirsf_Tyr_Pase_non-rcpt_typ-13		0.393	PTPN13-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPN13	HGNC	protein_coding	OTTHUMT00000363191.1	G			87671990	+1	no_errors	ENST00000436978	ensembl	human	known	70_37	silent	SNP	1.000	A
PTPRZ1	5803	genome.wustl.edu	37	7	121652558	121652558	+	Missense_Mutation	SNP	C	C	G			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr7:121652558C>G	ENST00000393386.2	+	12	3869	c.3458C>G	c.(3457-3459)tCt>tGt	p.S1153C	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1153					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CCAGCATCCTCTGACCCTGCT	0.408																																																	0													186.0	181.0	183.0					7																	121652558		2203	4300	6503	SO:0001583	missense	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.3458C>G	7.37:g.121652558C>G	ENSP00000377047:p.Ser1153Cys		A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,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,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.S1153C	ENST00000393386.2	37	c.3458	CCDS34740.1	7	.	.	.	.	.	.	.	.	.	.	C	15.62	2.887913	0.52014	.	.	ENSG00000106278	ENST00000393386	T	0.50277	0.75	5.51	5.51	0.81932	.	0.089029	0.49305	D	0.000156	T	0.65059	0.2655	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	D	0.64042	0.921	T	0.68036	-0.5515	10	0.72032	D	0.01	.	13.672	0.62432	0.0:0.9259:0.0:0.0741	.	1153	P23471	PTPRZ_HUMAN	C	1153	ENSP00000377047:S1153C	ENSP00000377047:S1153C	S	+	2	0	PTPRZ1	121439794	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	2.345000	0.44018	2.573000	0.86826	0.555000	0.69702	TCT	PTPRZ1	-	NULL		0.408	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRZ1	HGNC	protein_coding	OTTHUMT00000347288.1	C	NM_002851		121652558	+1	no_errors	ENST00000393386	ensembl	human	known	70_37	missense	SNP	1.000	G
PTX4	390667	genome.wustl.edu	37	16	1536493	1536493	+	Missense_Mutation	SNP	C	C	T	rs143075390		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr16:1536493C>T	ENST00000447419.2	-	3	909	c.884G>A	c.(883-885)cGa>cAa	p.R295Q	PTX4_ENST00000440447.2_Missense_Mutation_p.E147K|PTX4_ENST00000293922.1_Missense_Mutation_p.R290Q			Q96A99	PTX4_HUMAN	pentraxin 4, long	295	Pentaxin.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GGACAGGGCTCGCAGGGCAGT	0.642																																																	0								C	GLN/ARG	1,4397	2.1+/-5.4	0,1,2198	59.0	64.0	62.0		869	3.6	0.7	16	dbSNP_134	62	0,8600		0,0,4300	no	missense	PTX4	NM_001013658.1	43	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	290/474	1536493	1,12997	2199	4300	6499	SO:0001583	missense	390667				CCDS32362.1	16p13.3	2011-01-06	2010-03-30	2010-03-30	ENSG00000251692	ENSG00000251692			14171	protein-coding gene	gene with protein product		613442	"""chromosome 16 open reading frame 38"""	C16orf38			Standard	NM_001013658		Approved		uc010uvf.2	Q96A99		ENST00000447419.2:c.884G>A	16.37:g.1536493C>T	ENSP00000445277:p.Arg295Gln			Missense_Mutation	SNP	pfam_Pentaxin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin	p.R295Q	ENST00000447419.2	37	c.884		16	.	.	.	.	.	.	.	.	.	.	C	10.50	1.366397	0.24771	2.27E-4	0.0	ENSG00000251692	ENST00000447419;ENST00000293922	T;T	0.05447	3.44;3.44	5.58	3.64	0.41730	.	0.279071	0.30723	N	0.009006	T	0.04048	0.0113	L	0.31804	0.96	0.31977	N	0.606332	P	0.42993	0.797	B	0.33620	0.167	T	0.31696	-0.9934	10	0.32370	T	0.25	.	7.9689	0.30115	0.0:0.7492:0.0:0.2508	.	290	Q96A99-2	.	Q	295;290	ENSP00000445277:R295Q;ENSP00000293922:R290Q	ENSP00000293922:R290Q	R	-	2	0	PTX4	1476494	0.080000	0.21391	0.726000	0.30738	0.022000	0.10575	-0.231000	0.09069	0.734000	0.32515	-0.136000	0.14681	CGA	PTX4	-	pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin		0.642	PTX4-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	PTX4	HGNC	protein_coding	OTTHUMT00000432526.1	C	NM_001013658		1536493	-1	no_errors	ENST00000447419	ensembl	human	known	70_37	missense	SNP	0.888	T
RBM6	10180	genome.wustl.edu	37	3	50114529	50114529	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:50114529G>A	ENST00000266022.4	+	21	3594	c.3335G>A	c.(3334-3336)cGa>cAa	p.R1112Q	RBM6_ENST00000442092.1_Missense_Mutation_p.R590Q|RBM6_ENST00000421682.1_Missense_Mutation_p.R108Q|RBM6_ENST00000443081.1_Missense_Mutation_p.R980Q|RBM6_ENST00000539992.1_Missense_Mutation_p.R454Q|RBM6_ENST00000422955.1_Missense_Mutation_p.R590Q	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	1112					RNA processing (GO:0006396)	nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GATGCTGTTCGAAGAGTCATG	0.458																																																	0													92.0	86.0	88.0					3																	50114529		2203	4300	6503	SO:0001583	missense	10180			AF069517	CCDS2809.1, CCDS54586.1	3p21.3	2013-01-28			ENSG00000004534	ENSG00000004534		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	9903	protein-coding gene	gene with protein product		606886				10352938	Standard	NM_001167582		Approved	DEF-3, 3G2, NY-LU-12, g16, DEF3	uc003cyc.3	P78332	OTTHUMG00000156736	ENST00000266022.4:c.3335G>A	3.37:g.50114529G>A	ENSP00000266022:p.Arg1112Gln		O60549|O75524|Q86SS3	Missense_Mutation	SNP	pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom	p.R1112Q	ENST00000266022.4	37	c.3335	CCDS2809.1	3	.	.	.	.	.	.	.	.	.	.	G	32	5.162554	0.94727	.	.	ENSG00000004534	ENST00000442092;ENST00000266022;ENST00000443081;ENST00000539992;ENST00000422955;ENST00000421682	T;T;T;T;T	0.57436	0.4;0.91;0.94;0.51;0.4	5.59	5.59	0.84812	.	0.065091	0.64402	D	0.000017	T	0.70996	0.3288	M	0.66939	2.045	0.58432	D	0.999997	D	0.89917	1.0	D	0.79108	0.992	T	0.69785	-0.5051	9	.	.	.	-8.6608	17.3654	0.87362	0.0:0.0:1.0:0.0	.	1112	P78332	RBM6_HUMAN	Q	590;1112;980;454;590;108	ENSP00000393530:R590Q;ENSP00000266022:R1112Q;ENSP00000396466:R980Q;ENSP00000443165:R454Q;ENSP00000392939:R590Q	.	R	+	2	0	RBM6	50089533	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	5.885000	0.69736	2.640000	0.89533	0.462000	0.41574	CGA	RBM6	-	NULL		0.458	RBM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM6	HGNC	protein_coding	OTTHUMT00000345528.4	G	NM_005777		50114529	+1	no_errors	ENST00000266022	ensembl	human	known	70_37	missense	SNP	1.000	A
IPO4	79711	genome.wustl.edu	37	14	24649099	24649099	+	IGR	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr14:24649099C>T	ENST00000354464.6	-	0	3646				REC8_ENST00000559939.1_3'UTR|REC8_ENST00000311457.3_Silent_p.F514F|REC8_ENST00000559919.1_Silent_p.F514F	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4						DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CCCGGGTCTTCTACCTGCTCC	0.632																																																	0													52.0	57.0	55.0					14																	24649099		1995	4167	6162	SO:0001628	intergenic_variant	9985			AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801		14.37:g.24649099C>T			B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Silent	SNP	pfam_Rad21_Rec8_N,pfam_Rad21/Rec8_C_eu	p.F514	ENST00000354464.6	37	c.1542	CCDS9616.1	14																																																																																			REC8	-	pfam_Rad21/Rec8_C_eu		0.632	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REC8	HGNC	protein_coding	OTTHUMT00000071931.4	C	NM_024658		24649099	+1	no_errors	ENST00000311457	ensembl	human	known	70_37	silent	SNP	1.000	T
RFX1	5989	genome.wustl.edu	37	19	14073659	14073659	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:14073659C>T	ENST00000254325.4	-	21	3022	c.2788G>A	c.(2788-2790)Gag>Aag	p.E930K		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	930	Asp/Glu-rich (acidic).|Necessary for dimerization.				immune response (GO:0006955)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			ctctcctcctcctcttcttcc	0.716																																																	0													5.0	4.0	4.0					19																	14073659		1916	3778	5694	SO:0001583	missense	5989				CCDS12301.1	19p13.1	2008-07-17				ENSG00000132005			9982	protein-coding gene	gene with protein product	"""trans-acting regulatory factor 1"", ""enhancer factor C"", ""MHC class II regulatory factor RFX"""	600006				1505960, 8289803	Standard	NM_002918		Approved	EF-C	uc002mxv.3	P22670		ENST00000254325.4:c.2788G>A	19.37:g.14073659C>T	ENSP00000254325:p.Glu930Lys			Missense_Mutation	SNP	pfam_RFX1_trans_act,pfam_DNA-bd_RFX	p.E930K	ENST00000254325.4	37	c.2788	CCDS12301.1	19	.	.	.	.	.	.	.	.	.	.	c	20.1	3.940671	0.73557	.	.	ENSG00000132005	ENST00000254325	T	0.59772	0.24	4.77	4.77	0.60923	.	0.199084	0.40640	N	0.001042	T	0.55625	0.1932	L	0.59436	1.845	0.80722	D	1	B	0.24483	0.104	B	0.25140	0.058	T	0.54193	-0.8330	10	0.33141	T	0.24	-4.3285	16.5866	0.84728	0.0:1.0:0.0:0.0	.	930	P22670	RFX1_HUMAN	K	930	ENSP00000254325:E930K	ENSP00000254325:E930K	E	-	1	0	RFX1	13934659	1.000000	0.71417	0.997000	0.53966	0.767000	0.43475	5.132000	0.64758	2.201000	0.70794	0.430000	0.28490	GAG	RFX1	-	NULL		0.716	RFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX1	HGNC	protein_coding	OTTHUMT00000458510.1	C	NM_002918		14073659	-1	no_errors	ENST00000254325	ensembl	human	known	70_37	missense	SNP	1.000	T
RGPD2	729857	genome.wustl.edu	37	2	88071757	88071757	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr2:88071757G>A	ENST00000398146.3	-	22	5389	c.5167C>T	c.(5167-5169)Ctt>Ttt	p.L1723F	RGPD2_ENST00000420840.2_Missense_Mutation_p.L1715F|RGPD2_ENST00000327544.6_Missense_Mutation_p.L980F			P0DJD1	RGPD2_HUMAN	RANBP2-like and GRIP domain containing 2	1723	GRIP. {ECO:0000255|PROSITE- ProRule:PRU00250}.				protein targeting to Golgi (GO:0000042)					breast(1)|pancreas(1)	2						ATAACAGGAAGAAGGCTCTCT	0.463																																																	0													2.0	2.0	2.0					2																	88071757		649	1575	2224	SO:0001583	missense	729857				CCDS42710.1, CCDS42710.2	2p11.2	2013-01-10			ENSG00000185304	ENSG00000185304		"""Tetratricopeptide (TTC) repeat domain containing"""	32415	protein-coding gene	gene with protein product		612705				15710750, 15815621	Standard	NM_001078170		Approved	RGP2, RANBP2L2		P0DJD1	OTTHUMG00000153276	ENST00000398146.3:c.5167C>T	2.37:g.88071757G>A	ENSP00000381214:p.Leu1723Phe		P0C839|Q68DN6|Q6V1X0	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_2,pfam_TPR-1,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.L1723F	ENST00000398146.3	37	c.5167	CCDS42710.2	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	12.00|12.00	1.807312|1.807312	0.31961|0.31961	.|.	.|.	ENSG00000185304|ENSG00000185304	ENST00000398146;ENST00000420840;ENST00000327544|ENST00000469984	T;T;T|.	0.50548|.	0.74;0.74;1.87|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.45155|0.45155	0.1328|0.1328	M|M	0.73372|0.73372	2.23|2.23	0.24816|0.24816	N|N	0.992614|0.992614	D|.	0.69078|.	0.997|.	D|.	0.74023|.	0.982|.	T|T	0.39941|0.39941	-0.9589|-0.9589	8|4	0.87932|.	D|.	0|.	-0.7016|-0.7016	5.844|5.844	0.18652|0.18652	9.0E-4:0.0:0.9991:0.0|9.0E-4:0.0:0.9991:0.0	.|.	1723|.	B4DYH0|.	.|.	F|F	1723;1715;980|633	ENSP00000381214:L1723F;ENSP00000413275:L1715F;ENSP00000332727:L980F|.	ENSP00000332727:L980F|.	L|S	-|-	1|2	0|0	RGPD2|RGPD2	87852872|87852872	1.000000|1.000000	0.71417|0.71417	0.155000|0.155000	0.22561|0.22561	0.155000|0.155000	0.21991|0.21991	1.907000|1.907000	0.39897|0.39897	0.064000|0.064000	0.16427|0.16427	0.064000|0.064000	0.15345|0.15345	CTT|TCT	RGPD2	-	pfam_GRIP,superfamily_GRIP,smart_GRIP,pfscan_GRIP		0.463	RGPD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGPD2	HGNC	protein_coding	OTTHUMT00000330534.2	G	NM_001078170		88071757	-1	no_errors	ENST00000398146	ensembl	human	known	70_37	missense	SNP	1.000	A
RLF	6018	genome.wustl.edu	37	1	40702077	40702077	+	Missense_Mutation	SNP	G	G	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:40702077G>C	ENST00000372771.4	+	8	1730	c.1703G>C	c.(1702-1704)aGa>aCa	p.R568T		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	568					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)			ATAGAGGCTAGAATTCTTCAT	0.338																																																	0													72.0	78.0	76.0					1																	40702077		2203	4300	6503	SO:0001583	missense	6018				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.1703G>C	1.37:g.40702077G>C	ENSP00000361857:p.Arg568Thr		Q14CQ1|Q9NU60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R568T	ENST00000372771.4	37	c.1703	CCDS448.1	1	.	.	.	.	.	.	.	.	.	.	G	14.53	2.563337	0.45694	.	.	ENSG00000117000	ENST00000372771;ENST00000535839	T	0.36157	1.27	6.07	6.07	0.98685	Zinc finger, C2H2-like (1);	0.091705	0.64402	D	0.000001	T	0.60919	0.2306	M	0.62723	1.935	0.48511	D	0.999661	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.941	T	0.56842	-0.7912	10	0.54805	T	0.06	-12.4466	20.6593	0.99626	0.0:0.0:1.0:0.0	.	261;568	F5H2M5;Q13129	.;RLF_HUMAN	T	568;261	ENSP00000361857:R568T	ENSP00000361857:R568T	R	+	2	0	RLF	40474664	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	6.033000	0.70925	2.885000	0.99019	0.655000	0.94253	AGA	RLF	-	smart_Znf_C2H2-like		0.338	RLF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLF	HGNC	protein_coding	OTTHUMT00000015767.1	G	NM_012421		40702077	+1	no_errors	ENST00000372771	ensembl	human	known	70_37	missense	SNP	0.999	C
RNF20	56254	genome.wustl.edu	37	9	104312939	104312939	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr9:104312939C>T	ENST00000389120.3	+	10	1234	c.1144C>T	c.(1144-1146)Cgc>Tgc	p.R382C	AL591377.1_ENST00000584534.1_RNA	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	382					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TCCAGAATATCGCTGCATGCA	0.507																																																	0													209.0	201.0	204.0					9																	104312939		2203	4300	6503	SO:0001583	missense	56254			AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.1144C>T	9.37:g.104312939C>T	ENSP00000373772:p.Arg382Cys		A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	superfamily_STAT_TF_coiled-coil,superfamily_Prefoldin,smart_Znf_RING,pfscan_Znf_RING	p.R382C	ENST00000389120.3	37	c.1144	CCDS35084.1	9	.	.	.	.	.	.	.	.	.	.	C	23.8	4.458583	0.84317	.	.	ENSG00000155827	ENST00000389120	T	0.34275	1.37	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.61299	0.2336	M	0.68593	2.085	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.60454	-0.7260	10	0.66056	D	0.02	-7.5393	19.9164	0.97064	0.0:1.0:0.0:0.0	.	382	Q5VTR2	BRE1A_HUMAN	C	382	ENSP00000373772:R382C	ENSP00000373772:R382C	R	+	1	0	RNF20	103352760	1.000000	0.71417	0.995000	0.50966	0.989000	0.77384	5.454000	0.66651	2.810000	0.96702	0.650000	0.86243	CGC	RNF20	-	superfamily_STAT_TF_coiled-coil		0.507	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF20	HGNC	protein_coding	OTTHUMT00000356402.1	C	NM_019592		104312939	+1	no_errors	ENST00000389120	ensembl	human	known	70_37	missense	SNP	1.000	T
RNF213	57674	genome.wustl.edu	37	17	78360057	78360057	+	Silent	SNP	C	C	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr17:78360057C>A	ENST00000582970.1	+	62	14690	c.14547C>A	c.(14545-14547)atC>atA	p.I4849I	RNF213_ENST00000427003.3_3'UTR|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000573394.1_RNA|RNF213_ENST00000336301.6_Silent_p.I2922I|RNF213_ENST00000508628.2_Silent_p.I4898I|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	4849					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)			AAGGTGAGATCAACCTACCCA	0.547																																																	0													129.0	115.0	120.0					17																	78360057		2203	4300	6503	SO:0001819	synonymous_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.14547C>A	17.37:g.78360057C>A			C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.I4849	ENST00000582970.1	37	c.14547	CCDS58606.1	17																																																																																			RNF213	-	NULL		0.547	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	C	NM_020914		78360057	+1	no_errors	ENST00000582970	ensembl	human	known	70_37	silent	SNP	0.997	A
RP1L1	94137	genome.wustl.edu	37	8	10466721	10466721	+	Silent	SNP	G	G	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr8:10466721G>C	ENST00000382483.3	-	4	5110	c.4887C>G	c.(4885-4887)ctC>ctG	p.L1629L		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1709					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGGTGAAGGAGAGGGGCCCCA	0.716																																																	0													17.0	21.0	20.0					8																	10466721		1963	4126	6089	SO:0001819	synonymous_variant	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.4887C>G	8.37:g.10466721G>C			Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Silent	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.L1629	ENST00000382483.3	37	c.4887	CCDS43708.1	8																																																																																			RP1L1	-	NULL		0.716	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	G			10466721	-1	no_errors	ENST00000382483	ensembl	human	known	70_37	silent	SNP	0.000	C
RPAP1	26015	genome.wustl.edu	37	15	41819251	41819251	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr15:41819251G>A	ENST00000304330.4	-	14	1878	c.1762C>T	c.(1762-1764)Cgg>Tgg	p.R588W	RPAP1_ENST00000568413.1_5'Flank|RPAP1_ENST00000561603.1_Missense_Mutation_p.R588W	NM_015540.2	NP_056355.2	Q9BWH6	RPAP1_HUMAN	RNA polymerase II associated protein 1	588						nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TCTATCAGCCGAGGGCACTCC	0.562																																																	0													63.0	63.0	63.0					15																	41819251		2203	4300	6503	SO:0001583	missense	26015			BC000246	CCDS10079.1	15q14	2004-03-16			ENSG00000103932	ENSG00000103932			24567	protein-coding gene	gene with protein product		611475				10718198	Standard	XM_005254297		Approved	DKFZP727M111, KIAA1403, MGC858, FLJ12732	uc001zod.3	Q9BWH6	OTTHUMG00000130342	ENST00000304330.4:c.1762C>T	15.37:g.41819251G>A	ENSP00000306123:p.Arg588Trp		Q9H9I2|Q9NSQ5|Q9P2E4|Q9UFS7	Missense_Mutation	SNP	pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold	p.R588W	ENST00000304330.4	37	c.1762	CCDS10079.1	15	.	.	.	.	.	.	.	.	.	.	G	14.83	2.653780	0.47362	.	.	ENSG00000103932	ENST00000304330	T	0.75704	-0.96	5.1	1.9	0.25705	.	0.061443	0.64402	N	0.000004	T	0.67011	0.2848	M	0.83953	2.67	0.58432	D	0.99999	P	0.36535	0.557	B	0.26094	0.066	T	0.66308	-0.5956	10	0.87932	D	0	-13.2133	4.3532	0.11165	0.0762:0.1354:0.5094:0.279	.	588	Q9BWH6	RPAP1_HUMAN	W	588	ENSP00000306123:R588W	ENSP00000306123:R588W	R	-	1	2	RPAP1	39606543	1.000000	0.71417	0.972000	0.41901	0.889000	0.51656	4.305000	0.59110	0.624000	0.30286	0.563000	0.77884	CGG	RPAP1	-	NULL		0.562	RPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPAP1	HGNC	protein_coding	OTTHUMT00000252694.2	G	NM_015540		41819251	-1	no_errors	ENST00000304330	ensembl	human	known	70_37	missense	SNP	0.994	A
RPS6KB2	6199	genome.wustl.edu	37	11	67200801	67200801	+	Intron	SNP	C	C	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr11:67200801C>A	ENST00000312629.5	+	10	843				AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2						epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TCACCTTCCTCCTCCTCCAGC	0.667																																																	0													80.0	88.0	85.0					11																	67200801		1952	4131	6083	SO:0001627	intron_variant	6199			AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"""ribosomal protein S6 kinase, 70kD, polypeptide 2"""			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.799-10C>A	11.37:g.67200801C>A			B2RMZ9|B4DML8|O94809|Q9UEC1	RNA	SNP	-	NULL	ENST00000312629.5	37	NULL	CCDS41677.1	11																																																																																			RPS6KB2	-	-		0.667	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KB2	HGNC	protein_coding	OTTHUMT00000395508.1	C	NM_003952		67200801	+1	no_errors	ENST00000526268	ensembl	human	known	70_37	rna	SNP	0.141	A
CTB-134H23.3	0	genome.wustl.edu	37	16	29113431	29113431	+	RNA	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr16:29113431C>T	ENST00000562618.1	-	0	1840				RRN3P2_ENST00000564580.1_RNA																							TGGACACCTTCTTCCCCTTTG	0.483																																																	0																																												653390																															16.37:g.29113431C>T				RNA	SNP	-	NULL	ENST00000562618.1	37	NULL		16																																																																																			RRN3P2	-	-		0.483	CTB-134H23.3-002	KNOWN	basic	processed_transcript	RRN3P2	HGNC	pseudogene	OTTHUMT00000433241.1	C			29113431	+1	no_errors	ENST00000427965	ensembl	human	known	70_37	rna	SNP	1.000	T
RTN4	57142	genome.wustl.edu	37	2	55201029	55201029	+	Intron	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr2:55201029C>T	ENST00000337526.6	-	7	3674				RTN4_ENST00000357376.3_Intron|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000394611.2_Intron|RTN4_ENST00000394609.2_Intron|RTN4_ENST00000354474.6_Intron|RTN4_ENST00000486085.1_Intron|RTN4_ENST00000405240.1_Intron|RTN4_ENST00000404909.1_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000402434.2_Intron	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						TACAACTTTTCAAAAAGAACG	0.343																																																	0													50.0	55.0	53.0					2																	55201029		2203	4300	6503	SO:0001627	intron_variant	57142			AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.3431-26G>A	2.37:g.55201029C>T			O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	RNA	SNP	-	NULL	ENST00000337526.6	37	NULL	CCDS42684.1	2																																																																																			RTN4	-	-		0.343	RTN4-001	KNOWN	basic|CCDS	protein_coding	RTN4	HGNC	protein_coding	OTTHUMT00000251484.1	C			55201029	-1	no_errors	ENST00000485749	ensembl	human	known	70_37	rna	SNP	0.000	T
SALL3	27164	genome.wustl.edu	37	18	76754229	76754229	+	Silent	SNP	G	G	A	rs373469789		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr18:76754229G>A	ENST00000537592.2	+	2	2238	c.2238G>A	c.(2236-2238)aaG>aaA	p.K746K	SALL3_ENST00000575389.2_Silent_p.K746K|SALL3_ENST00000536229.3_Silent_p.K613K	NM_171999.3	NP_741996.2	Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	746					forelimb morphogenesis (GO:0035136)|hindlimb morphogenesis (GO:0035137)|negative regulation of smoothened signaling pathway (GO:0045879)|olfactory bulb interneuron development (GO:0021891)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TCTGCCAGAAGAAGTTCACCA	0.662																																																	0								G		0,4406		0,0,2203	70.0	61.0	64.0		2238	3.4	1.0	18		64	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SALL3	NM_171999.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		746/1301	76754229	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	27164			AJ007421	CCDS12013.1	18q23	2013-10-17	2013-10-17		ENSG00000256463	ENSG00000256463		"""Zinc fingers, C2H2-type"""	10527	protein-coding gene	gene with protein product		605079	"""sal (Drosophila)-like 3"", ""sal-like 3 (Drosophila)"""			10610715	Standard	NM_171999		Approved	ZNF796	uc002lmt.3	Q9BXA9	OTTHUMG00000132896	ENST00000537592.2:c.2238G>A	18.37:g.76754229G>A			Q9UGH1	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.K746	ENST00000537592.2	37	c.2238	CCDS12013.1	18																																																																																			SALL3	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.662	SALL3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SALL3	HGNC	protein_coding	OTTHUMT00000256397.1	G	NM_171999		76754229	+1	no_errors	ENST00000537592	ensembl	human	known	70_37	silent	SNP	1.000	A
SAMD4B	55095	genome.wustl.edu	37	19	39868421	39868421	+	Silent	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:39868421C>T	ENST00000314471.6	+	10	2436	c.1401C>T	c.(1399-1401)gcC>gcT	p.A467A	SAMD4B_ENST00000598913.1_Silent_p.A467A|SAMD4B_ENST00000596368.1_Intron	NM_018028.2	NP_060498.2	Q5PRF9	SMAG2_HUMAN	sterile alpha motif domain containing 4B	467					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			autonomic_ganglia(1)|breast(1)|endometrium(5)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(2)	15	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CTCCCGTCGCCGACGGAGACA	0.617																																																	0													38.0	40.0	39.0					19																	39868421		2203	4299	6502	SO:0001819	synonymous_variant	55095				CCDS33020.1	19q13.2	2013-01-10				ENSG00000179134		"""Sterile alpha motif (SAM) domain containing"""	25492	protein-coding gene	gene with protein product	"""smaug homolog B (Drosophila)"""					16221671	Standard	XM_005259029		Approved	FLJ10211, MGC99832, SMGB, hSmaug2	uc002olb.3	Q5PRF9		ENST00000314471.6:c.1401C>T	19.37:g.39868421C>T			A5Z0M6|Q6P194	Silent	SNP	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM	p.A467	ENST00000314471.6	37	c.1401	CCDS33020.1	19																																																																																			SAMD4B	-	NULL		0.617	SAMD4B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SAMD4B	HGNC	protein_coding	OTTHUMT00000464467.1	C	NM_018028		39868421	+1	no_errors	ENST00000314471	ensembl	human	known	70_37	silent	SNP	0.490	T
SDK1	221935	genome.wustl.edu	37	7	3991463	3991463	+	Missense_Mutation	SNP	C	C	T	rs144614861	byFrequency	TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr7:3991463C>T	ENST00000404826.2	+	7	1200	c.1061C>T	c.(1060-1062)tCc>tTc	p.S354F	SDK1_ENST00000389531.3_Missense_Mutation_p.S354F	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	354	Ig-like C2-type 3.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AACCCGACGTCCGCGGACACC	0.612													C|||	2	0.000399361	0.0	0.0	5008	,	,		16909	0.0		0.001	False		,,,				2504	0.001																0								C	PHE/SER	0,4406		0,0,2203	64.0	60.0	62.0		1061	4.9	0.0	7	dbSNP_134	62	2,8598	2.2+/-6.3	0,2,4298	yes	missense	SDK1	NM_152744.3	155	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	possibly-damaging	354/2214	3991463	2,13004	2203	4300	6503	SO:0001583	missense	221935			AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.1061C>T	7.37:g.3991463C>T	ENSP00000385899:p.Ser354Phe		Q8TEN9|Q8TEP5|Q96N44	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.S354F	ENST00000404826.2	37	c.1061	CCDS34590.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.73|13.73	2.324428|2.324428	0.41197|0.41197	0.0|0.0	2.33E-4|2.33E-4	ENSG00000146555|ENSG00000146555	ENST00000426596|ENST00000404826;ENST00000389531	.|T;T	.|0.03358	.|3.96;3.96	4.87|4.87	4.87|4.87	0.63330|0.63330	.|Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.|0.000000	.|0.64402	.|D	.|0.000003	T|T	0.13543|0.13543	0.0328|0.0328	L|L	0.47716|0.47716	1.5|1.5	0.19775|0.19775	N|N	0.999954|0.999954	.|D	.|0.89917	.|1.0	.|D	.|0.91635	.|0.999	T|T	0.01382|0.01382	-1.1369|-1.1369	5|10	.|0.56958	.|D	.|0.05	.|.	16.5463|16.5463	0.84446|0.84446	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|354	.|Q7Z5N4	.|SDK1_HUMAN	S|F	73|354	.|ENSP00000385899:S354F;ENSP00000374182:S354F	.|ENSP00000374182:S354F	P|S	+|+	1|2	0|0	SDK1|SDK1	3957989|3957989	0.528000|0.528000	0.26314|0.26314	0.014000|0.014000	0.15608|0.15608	0.208000|0.208000	0.24298|0.24298	3.121000|3.121000	0.50438|0.50438	2.410000|2.410000	0.81850|0.81850	0.655000|0.655000	0.94253|0.94253	CCG|TCC	SDK1	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.612	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK1	HGNC	protein_coding	OTTHUMT00000323702.1	C	NM_152744		3991463	+1	no_errors	ENST00000404826	ensembl	human	known	70_37	missense	SNP	0.057	T
SECISBP2	79048	genome.wustl.edu	37	9	91972358	91972358	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr9:91972358G>A	ENST00000375807.3	+	15	2217	c.2146G>A	c.(2146-2148)Gat>Aat	p.D716N	SECISBP2_ENST00000534113.2_Missense_Mutation_p.D648N|SECISBP2_ENST00000339901.4_Missense_Mutation_p.D643N	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	716					translation (GO:0006412)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ribonucleoprotein complex binding (GO:0043021)|selenocysteine insertion sequence binding (GO:0035368)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CACAATTATTGATTATGCCTG	0.468																																																	0													300.0	274.0	283.0					9																	91972358		2203	4300	6503	SO:0001583	missense	79048			AF380995	CCDS6683.1, CCDS65076.1, CCDS65077.1	9q22	2008-02-05			ENSG00000187742	ENSG00000187742			30972	protein-coding gene	gene with protein product		607693				11230166	Standard	XM_005252193		Approved		uc004aqj.1	Q96T21	OTTHUMG00000020182	ENST00000375807.3:c.2146G>A	9.37:g.91972358G>A	ENSP00000364965:p.Asp716Asn		F8W892|Q5HYY1|Q8IYC0|Q9H0A1	Missense_Mutation	SNP	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45	p.D716N	ENST00000375807.3	37	c.2146	CCDS6683.1	9	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641986	0.67244	.	.	ENSG00000187742	ENST00000375807;ENST00000395669;ENST00000339901;ENST00000534113	T;T;T	0.57752	0.38;0.38;0.38	4.54	3.63	0.41609	Ribosomal protein L7Ae/L30e/S12e/Gadd45 (1);	0.285499	0.37906	N	0.001882	T	0.52549	0.1741	N	0.21282	0.65	0.18873	N	0.999983	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.998;0.999	T	0.39981	-0.9587	10	0.18276	T	0.48	-7.9542	9.1438	0.36919	0.1672:0.0:0.8328:0.0	.	723;643;716	Q59H19;Q96T21-2;Q96T21	.;.;SEBP2_HUMAN	N	716;722;643;648	ENSP00000364965:D716N;ENSP00000364959:D643N;ENSP00000436650:D648N	ENSP00000364959:D643N	D	+	1	0	SECISBP2	91162178	0.415000	0.25416	0.057000	0.19452	0.934000	0.57294	3.348000	0.52209	1.260000	0.44134	0.561000	0.74099	GAT	SECISBP2	-	pfam_Ribosomal_L7Ae/L30e/S12e/Gad45		0.468	SECISBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SECISBP2	HGNC	protein_coding	OTTHUMT00000052990.3	G	NM_024077		91972358	+1	no_errors	ENST00000375807	ensembl	human	known	70_37	missense	SNP	0.341	A
SEMA6C	10500	genome.wustl.edu	37	1	151104757	151104757	+	3'UTR	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:151104757C>T	ENST00000341697.3	-	0	4687				SEMA6C_ENST00000479820.1_5'UTR|RP11-68I18.10_ENST00000563624.1_RNA			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C						axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGACGGGCTTCTCACCTCCCA	0.617																																																	0																																										SO:0001624	3_prime_UTR_variant	10500			AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.*203G>A	1.37:g.151104757C>T			D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	RNA	SNP	-	NULL	ENST00000341697.3	37	NULL	CCDS984.1	1																																																																																			SEMA6C	-	-		0.617	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	SEMA6C	HGNC	protein_coding	OTTHUMT00000034074.1	C	NM_030913		151104757	-1	no_errors	ENST00000479820	ensembl	human	known	70_37	rna	SNP	0.854	T
SFSWAP	6433	genome.wustl.edu	37	12	132195808	132195808	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr12:132195808G>A	ENST00000261674.4	+	1	175	c.34G>A	c.(34-36)Gag>Aag	p.E12K	SFSWAP_ENST00000541286.1_Missense_Mutation_p.E12K	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot family	12					mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	RNA binding (GO:0003723)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						CGCCAAACCCGAGAGGAAAAG	0.687																																																	0													16.0	24.0	21.0					12																	132195808		2196	4292	6488	SO:0001583	missense	6433			U08377	CCDS9273.1, CCDS58290.1	12q24.33	2014-04-14	2014-04-14	2010-09-15	ENSG00000061936	ENSG00000061936			10790	protein-coding gene	gene with protein product		601945	"""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot, Drosophila homolog)"", ""splicing factor, arginine/serine-rich 8 (suppressor-of-white-apricot homolog, Drosophila)"", ""splicing factor, suppressor of white-apricot homolog (Drosophila)"""	SFRS8		8940107	Standard	NM_004592		Approved	SWAP	uc010tbn.2	Q12872	OTTHUMG00000168319	ENST00000261674.4:c.34G>A	12.37:g.132195808G>A	ENSP00000261674:p.Glu12Lys		B2RN45|B7ZM97|F5H6B8|Q6PJF7	Missense_Mutation	SNP	pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp	p.E12K	ENST00000261674.4	37	c.34	CCDS9273.1	12	.	.	.	.	.	.	.	.	.	.	G	25.4	4.636478	0.87760	.	.	ENSG00000061936	ENST00000261674;ENST00000541286	T;T	0.10382	2.88;2.89	4.45	4.45	0.53987	.	0.501196	0.21143	N	0.079455	T	0.10508	0.0257	N	0.19112	0.55	0.33612	D	0.60366	D;D	0.69078	0.997;0.977	P;B	0.53006	0.715;0.17	T	0.15464	-1.0436	10	0.20046	T	0.44	-24.0187	8.7692	0.34722	0.1049:0.0:0.8951:0.0	.	12;12	F5H6B8;Q12872	.;SFSWA_HUMAN	K	12	ENSP00000261674:E12K;ENSP00000437738:E12K	ENSP00000261674:E12K	E	+	1	0	SFSWAP	130761761	0.986000	0.35501	0.980000	0.43619	0.988000	0.76386	2.107000	0.41844	2.196000	0.70406	0.561000	0.74099	GAG	SFSWAP	-	NULL		0.687	SFSWAP-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SFSWAP	HGNC	protein_coding	OTTHUMT00000399276.1	G	NM_004592		132195808	+1	no_errors	ENST00000261674	ensembl	human	known	70_37	missense	SNP	0.940	A
SGSM1	129049	genome.wustl.edu	37	22	25294203	25294203	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr22:25294203G>A	ENST00000400359.4	+	20	2459	c.2452G>A	c.(2452-2454)Gag>Aag	p.E818K	SNORD56_ENST00000362913.1_RNA|SGSM1_ENST00000400358.4_Missense_Mutation_p.E763K	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	818	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GCAGAGCAGCGAGGCCACCAC	0.637																																																	0													33.0	41.0	38.0					22																	25294203		2188	4289	6477	SO:0001583	missense	129049			AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.2452G>A	22.37:g.25294203G>A	ENSP00000383212:p.Glu818Lys		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom	p.E818K	ENST00000400359.4	37	c.2452	CCDS46674.1	22	.	.	.	.	.	.	.	.	.	.	G	12.00	1.806429	0.31961	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.06849	3.26;3.25	5.24	1.93	0.25924	Rab-GAP/TBC domain (2);	0.855129	0.10273	U	0.694579	T	0.02571	0.0078	N	0.04636	-0.2	0.29536	N	0.85245	P;P;B;P	0.44429	0.693;0.835;0.236;0.802	B;B;B;B	0.31016	0.057;0.123;0.017;0.084	T	0.29212	-1.0019	10	0.13853	T	0.58	-21.048	6.601	0.22701	0.1663:0.3015:0.5322:0.0	.	763;818;835;818	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	K	818;763;818	ENSP00000383211:E763K;ENSP00000383212:E818K	ENSP00000383211:E763K	E	+	1	0	SGSM1	23624203	0.000000	0.05858	0.989000	0.46669	0.928000	0.56348	0.064000	0.14437	0.706000	0.31912	-0.274000	0.10170	GAG	SGSM1	-	superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.637	SGSM1-004	KNOWN	basic|CCDS	protein_coding	SGSM1	HGNC	protein_coding	OTTHUMT00000320282.1	G	XM_059318		25294203	+1	no_errors	ENST00000400359	ensembl	human	known	70_37	missense	SNP	0.823	A
SH3RF1	57630	genome.wustl.edu	37	4	170037479	170037479	+	Missense_Mutation	SNP	C	C	T	rs150816134	byFrequency	TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr4:170037479C>T	ENST00000284637.9	-	10	2421	c.2080G>A	c.(2080-2082)Gac>Aac	p.D694N	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	694					negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		GAAGCACTGTCAGGAGATGTG	0.507																																																	0													103.0	86.0	92.0					4																	170037479		2203	4300	6503	SO:0001583	missense	57630			BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.2080G>A	4.37:g.170037479C>T	ENSP00000284637:p.Asp694Asn		Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_p67phox,prints_SH3_domain	p.D694N	ENST00000284637.9	37	c.2080	CCDS34099.1	4	.	.	.	.	.	.	.	.	.	.	C	9.101	1.004163	0.19199	.	.	ENSG00000154447	ENST00000284637	T	0.11930	2.73	5.34	5.34	0.76211	.	0.419049	0.29853	N	0.011029	T	0.08133	0.0203	N	0.04508	-0.205	0.28994	N	0.887899	B	0.27559	0.181	B	0.26969	0.075	T	0.17653	-1.0362	10	0.21014	T	0.42	-18.822	19.0412	0.93000	0.0:1.0:0.0:0.0	.	694	Q7Z6J0	SH3R1_HUMAN	N	694	ENSP00000284637:D694N	ENSP00000284637:D694N	D	-	1	0	SH3RF1	170274054	0.999000	0.42202	0.895000	0.35142	0.110000	0.19582	7.057000	0.76669	2.495000	0.84180	0.555000	0.69702	GAC	SH3RF1	-	NULL		0.507	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3RF1	HGNC	protein_coding	OTTHUMT00000363382.3	C	NM_020870		170037479	-1	no_errors	ENST00000284637	ensembl	human	known	70_37	missense	SNP	0.951	T
SI	6476	genome.wustl.edu	37	3	164780194	164780194	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:164780194C>T	ENST00000264382.3	-	9	1047	c.985G>A	c.(985-987)Gat>Aat	p.D329N		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	329	Isomaltase.				carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)	brush border (GO:0005903)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|carbohydrate binding (GO:0030246)|oligo-1,6-glucosidase activity (GO:0004574)|sucrose alpha-glucosidase activity (GO:0004575)			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)|Scopolamine(DB00747)	TCTGGTGTATCTCCTAGAAGG	0.333										HNSCC(35;0.089)																																							0													67.0	66.0	66.0					3																	164780194		2203	4295	6498	SO:0001583	missense	6476			X63597	CCDS3196.1	3q25.2-q26.2	2004-04-06	2004-04-06		ENSG00000090402	ENSG00000090402	3.2.1.10		10856	protein-coding gene	gene with protein product	"""Oligosaccharide alpha-1,6-glucosidase"""	609845	"""sucrase-isomaltase"""			2962903, 1353958	Standard	NM_001041		Approved		uc003fei.3	P14410	OTTHUMG00000158065	ENST00000264382.3:c.985G>A	3.37:g.164780194C>T	ENSP00000264382:p.Asp329Asn		A2RUC3|Q1JQ80|Q1RMC2	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.D329N	ENST00000264382.3	37	c.985	CCDS3196.1	3	.	.	.	.	.	.	.	.	.	.	C	7.134	0.580527	0.13686	.	.	ENSG00000090402	ENST00000264382	D	0.86562	-2.14	5.34	5.34	0.76211	Glycoside hydrolase-type carbohydrate-binding (1);	0.134298	0.64402	D	0.000003	T	0.70334	0.3212	N	0.05441	-0.05	0.45139	D	0.998156	B	0.20368	0.044	B	0.30316	0.114	T	0.64232	-0.6456	10	0.02654	T	1	.	6.9718	0.24652	0.0:0.7858:0.0:0.2142	.	329	P14410	SUIS_HUMAN	N	329	ENSP00000264382:D329N	ENSP00000264382:D329N	D	-	1	0	SI	166262888	1.000000	0.71417	0.968000	0.41197	0.814000	0.46013	1.729000	0.38115	2.488000	0.83962	0.585000	0.79938	GAT	SI	-	pfam_Glyco_hydro_31,superfamily_Glyco_hydro-type_carb-bd		0.333	SI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SI	HGNC	protein_coding	OTTHUMT00000350116.1	C	NM_001041		164780194	-1	no_errors	ENST00000264382	ensembl	human	known	70_37	missense	SNP	1.000	T
SIM1	6492	genome.wustl.edu	37	6	100896461	100896461	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:100896461C>T	ENST00000369208.3	-	7	1419	c.637G>A	c.(637-639)Gtg>Atg	p.V213M	SIM1_ENST00000262901.4_Missense_Mutation_p.V213M			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	213					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)|ureteric bud development (GO:0001657)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GAGTGGCCCACGGCCACCAGG	0.592																																																	0													54.0	50.0	52.0					6																	100896461		2203	4300	6503	SO:0001583	missense	6492			U70212	CCDS5045.1	6q16.3	2013-10-17	2013-10-17		ENSG00000112246	ENSG00000112246		"""Basic helix-loop-helix proteins"""	10882	protein-coding gene	gene with protein product		603128	"""single-minded (Drosophila) homolog 1"", ""single-minded homolog 1 (Drosophila)"""			9199934, 11448938	Standard	NM_005068		Approved	bHLHe14	uc003pqj.4	P81133	OTTHUMG00000015275	ENST00000369208.3:c.637G>A	6.37:g.100896461C>T	ENSP00000358210:p.Val213Met		Q5TDP7	Missense_Mutation	SNP	pfam_SIM_C,pfam_PAS_fold_3,pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom	p.V213M	ENST00000369208.3	37	c.637	CCDS5045.1	6	.	.	.	.	.	.	.	.	.	.	C	33	5.237026	0.95240	.	.	ENSG00000112246	ENST00000369208;ENST00000262901	T;T	0.74842	-0.88;-0.88	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	D	0.85877	0.5799	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.85879	0.1421	10	0.51188	T	0.08	.	19.5581	0.95361	0.0:1.0:0.0:0.0	.	213	P81133	SIM1_HUMAN	M	213	ENSP00000358210:V213M;ENSP00000262901:V213M	ENSP00000262901:V213M	V	-	1	0	SIM1	101003182	1.000000	0.71417	0.979000	0.43373	0.992000	0.81027	7.487000	0.81328	2.614000	0.88457	0.655000	0.94253	GTG	SIM1	-	NULL		0.592	SIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIM1	HGNC	protein_coding	OTTHUMT00000041628.3	C	NM_005068		100896461	-1	no_errors	ENST00000262901	ensembl	human	known	70_37	missense	SNP	1.000	T
SIPA1L1	26037	genome.wustl.edu	37	14	72090905	72090905	+	Silent	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr14:72090905C>T	ENST00000555818.1	+	4	2118	c.1770C>T	c.(1768-1770)ttC>ttT	p.F590F	SIPA1L1_ENST00000381232.3_Silent_p.F590F|SIPA1L1_ENST00000537413.1_Silent_p.F65F|SIPA1L1_ENST00000358550.2_Silent_p.F590F	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	590					actin cytoskeleton reorganization (GO:0031532)|activation of Rap GTPase activity (GO:0032861)|ephrin receptor signaling pathway (GO:0048013)|regulation of axonogenesis (GO:0050770)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of Rap GTPase activity (GO:0032317)|regulation of synaptic plasticity (GO:0048167)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GGTTGGCCTTCAACACACCCA	0.542																																																	0													156.0	129.0	138.0					14																	72090905		2203	4300	6503	SO:0001819	synonymous_variant	26037			AB007900	CCDS9807.1, CCDS61490.1, CCDS61491.1	14q24.1	2003-12-11				ENSG00000197555			20284	protein-coding gene	gene with protein product						9858596	Standard	XM_005267514		Approved	KIAA0440, E6TP1	uc001xmr.1	O43166		ENST00000555818.1:c.1770C>T	14.37:g.72090905C>T			J3KP19|O95321|Q9UDU4|Q9UNU4	Silent	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.F590	ENST00000555818.1	37	c.1770	CCDS9807.1	14																																																																																			SIPA1L1	-	NULL		0.542	SIPA1L1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SIPA1L1	HGNC	protein_coding	OTTHUMT00000412806.1	C	NM_015556		72090905	+1	no_errors	ENST00000555818	ensembl	human	known	70_37	silent	SNP	1.000	T
SLC20A2	6575	genome.wustl.edu	37	8	42296980	42296980	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr8:42296980G>A	ENST00000342228.3	-	7	1291	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	SLC20A2_ENST00000520262.1_Missense_Mutation_p.R308W|SLC20A2_ENST00000520179.1_Missense_Mutation_p.R308W	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	308					ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	inorganic phosphate transmembrane transporter activity (GO:0005315)|receptor activity (GO:0004872)|sodium:phosphate symporter activity (GO:0005436)|virus receptor activity (GO:0001618)			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TATGCAGCCCGAGGGTGGCTG	0.627																																																	0													66.0	63.0	64.0					8																	42296980		2203	4300	6503	SO:0001583	missense	6575				CCDS6132.1	8p11.21	2013-05-22			ENSG00000168575	ENSG00000168575		"""Solute carriers"""	10947	protein-coding gene	gene with protein product		158378		MLVAR, GLVR2		7745689, 16790504	Standard	NM_001257180		Approved	PiT-2, Glvr-2	uc010lxm.4	Q08357	OTTHUMG00000164169	ENST00000342228.3:c.922C>T	8.37:g.42296980G>A	ENSP00000340465:p.Arg308Trp			Missense_Mutation	SNP	pfam_Phos_transporter	p.R308W	ENST00000342228.3	37	c.922	CCDS6132.1	8	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230936	0.58777	.	.	ENSG00000168575	ENST00000342228;ENST00000520262;ENST00000520179	D;D;D	0.90676	-2.71;-2.71;-2.71	6.06	5.18	0.71444	.	0.108208	0.64402	D	0.000018	D	0.92567	0.7639	L	0.61218	1.895	0.58432	D	0.999999	D	0.63046	0.992	P	0.58970	0.849	D	0.92618	0.6105	10	0.66056	D	0.02	-28.4102	10.2637	0.43443	0.0:0.1473:0.6997:0.153	.	308	Q08357	S20A2_HUMAN	W	308	ENSP00000340465:R308W;ENSP00000429754:R308W;ENSP00000429712:R308W	ENSP00000340465:R308W	R	-	1	2	SLC20A2	42416137	0.996000	0.38824	0.976000	0.42696	0.137000	0.21094	2.840000	0.48215	1.563000	0.49615	0.650000	0.86243	CGG	SLC20A2	-	pfam_Phos_transporter		0.627	SLC20A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC20A2	HGNC	protein_coding	OTTHUMT00000377578.1	G			42296980	-1	no_errors	ENST00000342228	ensembl	human	known	70_37	missense	SNP	0.947	A
SLC22A2	6582	genome.wustl.edu	37	6	160662520	160662520	+	Missense_Mutation	SNP	G	G	A	rs369166212		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:160662520G>A	ENST00000366953.3	-	9	1745	c.1487C>T	c.(1486-1488)cCg>cTg	p.P496L	SLC22A2_ENST00000491092.1_5'UTR	NM_003058.3	NP_003049.2	O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	496					body fluid secretion (GO:0007589)|drug transmembrane transport (GO:0006855)|histamine transport (GO:0051608)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|organic cation transport (GO:0015695)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	choline transmembrane transporter activity (GO:0015220)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|steroid binding (GO:0005496)	p.P496R(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)	Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Chlorphenamine(DB01114)|Choline(DB00122)|Cimetidine(DB00501)|Cisplatin(DB00515)|Cladribine(DB00242)|Cocaine(DB00907)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Desipramine(DB01151)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Famotidine(DB00927)|Flurazepam(DB00690)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Memantine(DB01043)|Metformin(DB00331)|Metoprolol(DB00264)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Oxprenolol(DB01580)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Propranolol(DB00571)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Reserpine(DB00206)|Thiamine(DB00152)|Tubocurarine(DB01199)|Vinblastine(DB00570)|Zidovudine(DB00495)	AACCATCAGCGGGAGCTCAAG	0.438													G|||	1	0.000199681	0.0	0.0	5008	,	,		16850	0.0		0.0	False		,,,				2504	0.001																1	Substitution - Missense(1)	lung(1)						G	LEU/PRO	0,4406		0,0,2203	97.0	84.0	88.0		1487	4.4	0.6	6		88	1,8599	1.2+/-3.3	0,1,4299	no	missense	SLC22A2	NM_003058.3	98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	496/556	160662520	1,13005	2203	4300	6503	SO:0001583	missense	6582			X98333	CCDS5276.1	6q25.3	2013-05-22			ENSG00000112499	ENSG00000112499		"""Solute carriers"""	10966	protein-coding gene	gene with protein product		602608				9605850	Standard	NM_003058		Approved	OCT2	uc003qtf.3	O15244	OTTHUMG00000015950	ENST00000366953.3:c.1487C>T	6.37:g.160662520G>A	ENSP00000355920:p.Pro496Leu		Q5T7Q6|Q6PIQ8|Q8NG62|Q9NQB9	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.P496L	ENST00000366953.3	37	c.1487	CCDS5276.1	6	.	.	.	.	.	.	.	.	.	.	G	22.7	4.329750	0.81690	0.0	1.16E-4	ENSG00000112499	ENST00000366953	T	0.73789	-0.78	4.44	4.44	0.53790	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	D	0.90109	0.6910	H	0.97265	3.97	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	D	0.93555	0.6890	10	0.87932	D	0	.	17.6065	0.88039	0.0:0.0:1.0:0.0	.	496	O15244	S22A2_HUMAN	L	496	ENSP00000355920:P496L	ENSP00000355920:P496L	P	-	2	0	SLC22A2	160582510	1.000000	0.71417	0.631000	0.29282	0.846000	0.48090	9.457000	0.97630	2.459000	0.83118	0.557000	0.71058	CCG	SLC22A2	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp		0.438	SLC22A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A2	HGNC	protein_coding	OTTHUMT00000042943.1	G	NM_003058		160662520	-1	no_errors	ENST00000366953	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC22A6	9356	genome.wustl.edu	37	11	62752043	62752043	+	Silent	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr11:62752043G>A	ENST00000377871.3	-	1	386	c.120C>T	c.(118-120)ttC>ttT	p.F40F	SLC22A6_ENST00000458333.2_Silent_p.F40F|SLC22A6_ENST00000537349.1_5'Flank|SLC22A6_ENST00000360421.4_Silent_p.F40F|SLC22A6_ENST00000421062.2_Silent_p.F40F	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	40					alpha-ketoglutarate transport (GO:0015742)|organic anion transport (GO:0015711)|protein homooligomerization (GO:0051260)|renal tubular secretion (GO:0097254)|response to methotrexate (GO:0031427)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|caveola (GO:0005901)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride ion binding (GO:0031404)|inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36					Acetaminophen(DB00316)|Acetazolamide(DB00819)|Acetylcysteine(DB06151)|Acetylsalicylic acid(DB00945)|Aciclovir(DB00787)|Adefovir Dipivoxil(DB00718)|Aminohippurate(DB00345)|Aminophenazone(DB01424)|Amoxicillin(DB01060)|Antipyrine(DB01435)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bromodiphenhydramine(DB01237)|Bumetanide(DB00887)|Captopril(DB01197)|Carbenicillin(DB00578)|Carprofen(DB00821)|Caspofungin(DB00520)|Cefacetrile(DB01414)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Cefotiam(DB00229)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftriaxone(DB01212)|Cephalexin(DB00567)|Chloramphenicol(DB00446)|Chlorothiazide(DB00880)|Chlorpropamide(DB00672)|Cidofovir(DB00369)|Cilastatin(DB01597)|Cimetidine(DB00501)|Cinoxacin(DB00827)|Cloxacillin(DB01147)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Cyclothiazide(DB00606)|Dabrafenib(DB08912)|Diclofenac(DB00586)|Didanosine(DB00900)|Diflunisal(DB00861)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Enalapril(DB00584)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Fluorescein(DB00693)|Flurbiprofen(DB00712)|Folic Acid(DB00158)|Foscarnet(DB00529)|Furosemide(DB00695)|Ganciclovir(DB01004)|Gentamicin(DB00798)|Glyburide(DB01016)|Hydrochlorothiazide(DB00999)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Lamivudine(DB00709)|Levofloxacin(DB01137)|Losartan(DB00678)|Meclofenamic acid(DB00939)|Methazolamide(DB00703)|Methotrexate(DB00563)|Minocycline(DB01017)|Nafcillin(DB00607)|Nalidixic Acid(DB00779)|Naproxen(DB00788)|Nateglinide(DB00731)|Norfloxacin(DB01059)|Novobiocin(DB01051)|Ofloxacin(DB01165)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piperacillin(DB00319)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Riboflavin(DB00140)|Salicylic acid(DB00936)|Stavudine(DB00649)|Streptomycin(DB01082)|Sulindac(DB00605)|Tenofovir(DB00300)|Tetracycline(DB00759)|Tolbutamide(DB01124)|Tolmetin(DB00500)|Trifluridine(DB00432)|Valaciclovir(DB00577)|Valproic Acid(DB00313)|Vancomycin(DB00512)|Zalcitabine(DB00943)|Zidovudine(DB00495)	TGGCAGCAGTGAAGTTCTGCA	0.672																																																	0													42.0	40.0	41.0					11																	62752043		2201	4298	6499	SO:0001819	synonymous_variant	9356			AF057039	CCDS8041.1, CCDS31591.1, CCDS44631.1, CCDS44632.1	11q12.3	2013-07-15			ENSG00000197901	ENSG00000197901		"""Solute carriers"""	10970	protein-coding gene	gene with protein product		607582				9762842, 9950961	Standard	NM_004790		Approved	ROAT1, PAHT, OAT1	uc001nwk.3	Q4U2R8	OTTHUMG00000167767	ENST00000377871.3:c.120C>T	11.37:g.62752043G>A			A8MY93|B2D0R6|O95187|O95742|Q7LDA0|Q8N192|Q9NQA6|Q9NQC2|Q9UBG6|Q9UEQ8	Silent	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp	p.F40	ENST00000377871.3	37	c.120	CCDS31591.1	11																																																																																			SLC22A6	-	tigrfam_Orgcat_transp		0.672	SLC22A6-002	KNOWN	basic|CCDS	protein_coding	SLC22A6	HGNC	protein_coding	OTTHUMT00000396186.1	G	NM_004790		62752043	-1	no_errors	ENST00000377871	ensembl	human	known	70_37	silent	SNP	1.000	A
KHSRP	8570	genome.wustl.edu	37	19	6426421	6426421	+	5'Flank	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:6426421C>T	ENST00000398148.3	-	0	0				SLC25A41_ENST00000321510.6_Missense_Mutation_p.M364I	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein						gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						GGGTTTTCTTCATGGCTTCGT	0.592																																					Colon(55;593 1006 2067 9135 22980)												0													92.0	90.0	91.0					19																	6426421		2060	4215	6275	SO:0001631	upstream_gene_variant	284427			U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945			19.37:g.6426421C>T	Exception_encountered		O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.M364I	ENST00000398148.3	37	c.1092	CCDS45936.1	19	.	.	.	.	.	.	.	.	.	.	C	16.54	3.151022	0.57151	.	.	ENSG00000181240	ENST00000321510	T	0.77620	-1.11	4.7	4.7	0.59300	Mitochondrial carrier domain (2);	.	.	.	.	T	0.68339	0.2990	N	0.25245	0.725	0.80722	D	1	B	0.25809	0.135	B	0.30401	0.115	T	0.64914	-0.6295	9	0.32370	T	0.25	-41.5633	16.5629	0.84570	0.0:1.0:0.0:0.0	.	364	Q8N5S1	S2541_HUMAN	I	364	ENSP00000322649:M364I	ENSP00000322649:M364I	M	-	3	0	SLC25A41	6377421	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.487000	0.53222	2.418000	0.82041	0.563000	0.77884	ATG	SLC25A41	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.592	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A41	HGNC	protein_coding	OTTHUMT00000453305.1	C			6426421	-1	no_errors	ENST00000321510	ensembl	human	known	70_37	missense	SNP	1.000	T
KHSRP	8570	genome.wustl.edu	37	19	6426429	6426429	+	5'Flank	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:6426429C>T	ENST00000398148.3	-	0	0				SLC25A41_ENST00000321510.6_Missense_Mutation_p.E362K	NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein						gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|regulation of miRNA metabolic process (GO:2000628)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|transcription, DNA-templated (GO:0006351)	cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						TTCATGGCTTCGTACACCACA	0.592																																					Colon(55;593 1006 2067 9135 22980)												0													93.0	92.0	92.0					19																	6426429		2074	4215	6289	SO:0001631	upstream_gene_variant	284427			U94832	CCDS45936.1	19p13.3	2010-11-23	2008-02-04		ENSG00000088247	ENSG00000088247			6316	protein-coding gene	gene with protein product	"""FUSE binding protein 2"""	603445				9136930, 8940189	Standard	NM_003685		Approved	KSRP, FBP2, FUBP2	uc002mer.4	Q92945			19.37:g.6426429C>T	Exception_encountered		O00301|Q59EZ9|Q5U4P6|Q9UNT5|Q9UQH5	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.E362K	ENST00000398148.3	37	c.1084	CCDS45936.1	19	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491685	0.84962	.	.	ENSG00000181240	ENST00000321510	D	0.88664	-2.41	4.7	3.67	0.42095	Mitochondrial carrier domain (2);	.	.	.	.	D	0.94578	0.8253	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.69142	0.962	D	0.95009	0.8150	9	0.87932	D	0	-9.3486	12.0714	0.53618	0.0:0.9144:0.0:0.0856	.	362	Q8N5S1	S2541_HUMAN	K	362	ENSP00000322649:E362K	ENSP00000322649:E362K	E	-	1	0	SLC25A41	6377429	0.999000	0.42202	0.322000	0.25334	0.754000	0.42855	4.418000	0.59828	1.189000	0.43028	-0.244000	0.11960	GAA	SLC25A41	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.592	KHSRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A41	HGNC	protein_coding	OTTHUMT00000453305.1	C			6426429	-1	no_errors	ENST00000321510	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC33A1	9197	genome.wustl.edu	37	3	155571228	155571228	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:155571228C>T	ENST00000392845.3	-	1	939	c.559G>A	c.(559-561)Gaa>Aaa	p.E187K	SLC33A1_ENST00000359479.3_Missense_Mutation_p.E187K|SLC33A1_ENST00000460729.1_5'Flank			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	187					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GCCAAGAATTCAAACAAAAAG	0.478																																																	0													63.0	68.0	66.0					3																	155571228		2203	4300	6503	SO:0001583	missense	9197			D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"""Solute carriers"""	95	protein-coding gene	gene with protein product		603690	"""acetyl-Coenzyme A transporter"", ""spastic paraplegia 42 (autosomal dominant)"""	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.559G>A	3.37:g.155571228C>T	ENSP00000376587:p.Glu187Lys		B2R5Q2|D3DNK4	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1	p.E187K	ENST00000392845.3	37	c.559	CCDS3173.1	3	.	.	.	.	.	.	.	.	.	.	C	18.92	3.724957	0.68959	.	.	ENSG00000169359	ENST00000392845;ENST00000359479	T;T	0.80738	-1.41;-1.41	5.28	5.28	0.74379	Major facilitator superfamily domain, general substrate transporter (1);	0.104205	0.64402	D	0.000004	T	0.72244	0.3436	N	0.22421	0.69	0.48236	D	0.999618	B	0.15719	0.014	B	0.22152	0.038	T	0.65179	-0.6231	10	0.25751	T	0.34	-20.9105	19.3307	0.94285	0.0:1.0:0.0:0.0	.	187	O00400	ACATN_HUMAN	K	187	ENSP00000376587:E187K;ENSP00000352456:E187K	ENSP00000352456:E187K	E	-	1	0	SLC33A1	157053922	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	4.761000	0.62243	2.625000	0.88918	0.650000	0.86243	GAA	SLC33A1	-	superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1		0.478	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SLC33A1	HGNC	protein_coding	OTTHUMT00000351130.3	C	NM_004733		155571228	-1	no_errors	ENST00000359479	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC35D1	23169	genome.wustl.edu	37	1	67512952	67512952	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:67512952G>A	ENST00000235345.5	-	7	717	c.632C>T	c.(631-633)tCa>tTa	p.S211L	SLC35D1_ENST00000506472.2_Missense_Mutation_p.S132L	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	211					carbohydrate transport (GO:0008643)|cellular glucuronidation (GO:0052695)|chondroitin sulfate biosynthetic process (GO:0030206)|embryonic skeletal system development (GO:0048706)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|UDP-glucuronate biosynthetic process (GO:0006065)|UDP-glucuronic acid transport (GO:0015787)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	UDP-glucuronic acid transmembrane transporter activity (GO:0005461)			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10						ACTTACTTTTGAATCTAATTT	0.363																																																	0													154.0	142.0	146.0					1																	67512952		2203	4300	6503	SO:0001583	missense	23169			AB044343	CCDS636.1	1p32-p31	2013-07-17	2013-07-17		ENSG00000116704	ENSG00000116704		"""Solute carriers"""	20800	protein-coding gene	gene with protein product		610804	"""solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1"""			11322953	Standard	NM_015139		Approved	UGTREL7, KIAA0260	uc001ddk.2	Q9NTN3	OTTHUMG00000009360	ENST00000235345.5:c.632C>T	1.37:g.67512952G>A	ENSP00000235345:p.Ser211Leu		A8K185|B7Z3X2|Q52LU5|Q92548	Missense_Mutation	SNP	pfam_DUF250	p.S211L	ENST00000235345.5	37	c.632	CCDS636.1	1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.088601	0.76756	.	.	ENSG00000116704	ENST00000235345;ENST00000506472	T;T	0.63913	-0.07;-0.07	5.15	5.15	0.70609	Domain of unknown function DUF250 (1);	0.183014	0.48767	D	0.000163	T	0.59432	0.2193	M	0.86651	2.83	0.80722	D	1	P;B	0.37276	0.589;0.242	B;B	0.38985	0.287;0.213	T	0.63097	-0.6713	10	0.21014	T	0.42	-8.1968	17.7823	0.88527	0.0:0.0:1.0:0.0	.	132;211	B7Z3X2;Q9NTN3	.;S35D1_HUMAN	L	211;132	ENSP00000235345:S211L;ENSP00000445189:S132L	ENSP00000235345:S211L	S	-	2	0	SLC35D1	67285540	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.363000	0.97131	2.567000	0.86603	0.655000	0.94253	TCA	SLC35D1	-	pfam_DUF250		0.363	SLC35D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35D1	HGNC	protein_coding	OTTHUMT00000025948.1	G	NM_015139		67512952	-1	no_errors	ENST00000235345	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC3A2	6520	genome.wustl.edu	37	11	62649362	62649362	+	Intron	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr11:62649362C>T	ENST00000377890.2	+	5	895				SLC3A2_ENST00000338663.7_Intron|SLC3A2_ENST00000535296.1_Intron|SLC3A2_ENST00000377891.2_Intron|SLC3A2_ENST00000377892.1_Intron|SLC3A2_ENST00000377889.2_Intron|SLC3A2_ENST00000536981.1_5'UTR|SLC3A2_ENST00000538682.1_3'UTR	NM_002394.5	NP_002385.3	P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2						amino acid transport (GO:0006865)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|carbohydrate metabolic process (GO:0005975)|cell growth (GO:0016049)|ion transport (GO:0006811)|leucine import (GO:0060356)|leukocyte migration (GO:0050900)|response to exogenous dsRNA (GO:0043330)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|tryptophan transport (GO:0015827)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)|catalytic activity (GO:0003824)|cation binding (GO:0043169)|double-stranded RNA binding (GO:0003725)|neutral amino acid transmembrane transporter activity (GO:0015175)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GCCCCCATTTCAGGTCTGAAG	0.597																																																	0													73.0	74.0	74.0					11																	62649362		2201	4298	6499	SO:0001627	intron_variant	6520				CCDS8039.2, CCDS31588.1, CCDS31589.1, CCDS31590.1	11q12-q22	2013-07-19	2013-07-19		ENSG00000168003	ENSG00000168003		"""Solute carriers"""	11026	protein-coding gene	gene with protein product	"""antigen identified by monoclonal antibodies 4F2, TRA1.10, TROP4, and T43"", ""antigen defined by monoclonal antibody 4F2"", ""heavy chain"", ""4F2 heavy chain"", ""CD98 heavy chain"", ""monoclonal antibody 44D7"", ""4F2 cell-surface antigen heavy chain"", ""lymphocyte activation antigen 4F2 large subunit"""	158070	"""solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2"""	MDU1		3036867	Standard	NM_001012662		Approved	4T2HC, 4F2, NACAE, CD98, CD98HC, 4F2HC	uc001nwd.3	P08195	OTTHUMG00000074091	ENST00000377890.2:c.728-3C>T	11.37:g.62649362C>T			Q13543	RNA	SNP	-	NULL	ENST00000377890.2	37	NULL	CCDS8039.2	11																																																																																			SLC3A2	-	-		0.597	SLC3A2-001	KNOWN	basic|CCDS	protein_coding	SLC3A2	HGNC	protein_coding	OTTHUMT00000157306.1	C	NM_001012661		62649362	+1	no_errors	ENST00000457660	ensembl	human	known	70_37	rna	SNP	0.969	T
SLC41A1	254428	genome.wustl.edu	37	1	205764636	205764636	+	Intron	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:205764636G>A	ENST00000367137.3	-	9	2087				SLC41A1_ENST00000468057.1_Intron	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation transmembrane transporter activity (GO:0008324)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CTTAGACACAGACAGAGGTCA	0.512																																																	0													35.0	32.0	33.0					1																	205764636		2203	4300	6503	SO:0001627	intron_variant	254428			AJ514402	CCDS30988.1	1q32.1	2013-07-17	2013-07-17		ENSG00000133065	ENSG00000133065		"""Solute carriers"""	19429	protein-coding gene	gene with protein product		610801				12810078, 18367447	Standard	NM_173854		Approved	MgtE	uc001hdh.1	Q8IVJ1	OTTHUMG00000036000	ENST00000367137.3:c.1073-30C>T	1.37:g.205764636G>A			Q63HJ4|Q658Z5|Q659A4|Q6MZK2	RNA	SNP	-	NULL	ENST00000367137.3	37	NULL	CCDS30988.1	1																																																																																			SLC41A1	-	-		0.512	SLC41A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC41A1	HGNC	protein_coding	OTTHUMT00000087731.1	G			205764636	-1	no_errors	ENST00000484228	ensembl	human	known	70_37	rna	SNP	0.024	A
SMEK2	57223	genome.wustl.edu	37	2	55826043	55826043	+	Nonsense_Mutation	SNP	C	C	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr2:55826043C>A	ENST00000345102.5	-	4	731	c.430G>T	c.(430-432)Gag>Tag	p.E144*	SMEK2_ENST00000272313.5_Nonsense_Mutation_p.E144*|SMEK2_ENST00000407823.3_Nonsense_Mutation_p.E144*	NM_001122964.1	NP_001116436	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	144					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)|regulation of lipid metabolic process (GO:0019216)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCAGCAATCTCTTCAAGTTTA	0.413																																																	0													165.0	172.0	170.0					2																	55826043		2203	4300	6503	SO:0001587	stop_gained	57223			AB037808	CCDS1855.1, CCDS46289.1, CCDS62913.1	2p16.1	2008-09-15			ENSG00000138041				29267	protein-coding gene	gene with protein product		610352				16085932, 18614045	Standard	NM_001122964		Approved	PSY2, FLFL2, KIAA1387, FLJ31474	uc002rzc.3	Q5MIZ7	OTTHUMG00000129336	ENST00000345102.5:c.430G>T	2.37:g.55826043C>A	ENSP00000339769:p.Glu144*		Q6P9B0|Q86XB8|Q9BQJ0|Q9BRK2|Q9H913|Q9P2G0	Nonsense_Mutation	SNP	pfam_DUF625,superfamily_ARM-type_fold	p.E144*	ENST00000345102.5	37	c.430	CCDS46289.1	2	.	.	.	.	.	.	.	.	.	.	C	38	6.640081	0.97726	.	.	ENSG00000138041	ENST00000272313;ENST00000407823;ENST00000345102	.	.	.	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-10.6275	20.1731	0.98165	0.0:1.0:0.0:0.0	.	.	.	.	X	144	.	ENSP00000272313:E144X	E	-	1	0	SMEK2	55679547	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.768000	0.95171	0.655000	0.94253	GAG	SMEK2	-	NULL		0.413	SMEK2-002	NOVEL	basic|CCDS	protein_coding	SMEK2	HGNC	protein_coding	OTTHUMT00000251483.1	C	NM_020463		55826043	-1	no_errors	ENST00000272313	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SMG1	23049	genome.wustl.edu	37	16	18841282	18841282	+	Silent	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr16:18841282G>A	ENST00000446231.2	-	53	9511	c.9099C>T	c.(9097-9099)ttC>ttT	p.F3033F	SMG1_ENST00000389467.3_Silent_p.F3033F			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3033					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CACAGAGCCTGAAGAACTCCT	0.383																																																	0													39.0	34.0	36.0					16																	18841282		1821	4081	5902	SO:0001819	synonymous_variant	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.9099C>T	16.37:g.18841282G>A			O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	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.F3033	ENST00000446231.2	37	c.9099	CCDS45430.1	16																																																																																			SMG1	-	NULL		0.383	SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SMG1	HGNC	protein_coding	OTTHUMT00000391817.1	G	NM_015092		18841282	-1	no_errors	ENST00000389467	ensembl	human	known	70_37	silent	SNP	1.000	A
JMJD4	65094	genome.wustl.edu	37	1	227920971	227920971	+	Intron	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:227920971C>T	ENST00000366758.3	-	4	960				SNAP47_ENST00000366760.1_Intron|JMJD4_ENST00000438896.2_Intron|SNAP47_ENST00000366759.4_5'Flank|JMJD4_ENST00000485807.1_5'UTR|SNAP47_ENST00000480897.1_3'UTR|SNAP47_ENST00000315781.5_5'Flank	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				GGCTAGGCCTCAGCGACACCA	0.642																																																	0																																										SO:0001627	intron_variant	116841			AK022579	CCDS1561.1, CCDS59203.1	1q42.13	2008-02-05			ENSG00000081692	ENSG00000081692			25724	protein-coding gene	gene with protein product						12477932	Standard	NM_023007		Approved	FLJ12517	uc001hrb.3	Q9H9V9	OTTHUMG00000037698	ENST00000366758.3:c.960+143G>A	1.37:g.227920971C>T			Q5TBZ1|Q5TBZ6|Q9H970	RNA	SNP	-	NULL	ENST00000366758.3	37	NULL	CCDS1561.1	1																																																																																			SNAP47	-	-		0.642	JMJD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SNAP47	HGNC	protein_coding	OTTHUMT00000091970.1	C	NM_023007		227920971	+1	no_errors	ENST00000480265	ensembl	human	known	70_37	rna	SNP	0.000	T
SND1	27044	genome.wustl.edu	37	7	127637781	127637781	+	Intron	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr7:127637781G>A	ENST00000354725.3	+	16	1973				SND1_ENST00000467238.1_3'UTR	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1						gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						cgtaattcgtgccttatcaga	0.428																																																	0													207.0	199.0	202.0					7																	127637781		2203	4300	6503	SO:0001627	intron_variant	27044				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.1779+6672G>A	7.37:g.127637781G>A			Q13122|Q96AG0	RNA	SNP	-	NULL	ENST00000354725.3	37	NULL	CCDS34747.1	7																																																																																			SND1	-	-		0.428	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SND1	HGNC	protein_coding	OTTHUMT00000349148.1	G	NM_014390		127637781	+1	no_errors	ENST00000467238	ensembl	human	known	70_37	rna	SNP	0.000	A
SNHG14	104472715	genome.wustl.edu	37	15	25484993	25484993	+	RNA	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr15:25484993G>A	ENST00000453082.2	+	0	1979				SNORD115-39_ENST00000363694.1_RNA|SNORD115-37_ENST00000363768.1_RNA|SNORD115-38_ENST00000365037.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		TTGGGTCAATGATGAGAACCT	0.527																																																	0													336.0	336.0	336.0					15																	25484993		876	1991	2867			100033812					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25484993G>A				RNA	SNP	-	NULL	ENST00000453082.2	37	NULL		15																																																																																			SNORD115-38	-	-		0.527	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	SNORD115-38	HGNC	processed_transcript	OTTHUMT00000126730.2	G			25484993	+1	no_errors	ENST00000365037	ensembl	human	known	70_37	rna	SNP	0.287	A
SPATA7	55812	genome.wustl.edu	37	14	88892894	88892894	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr14:88892894G>A	ENST00000393545.4	+	6	980	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K	SPATA7_ENST00000556553.1_Missense_Mutation_p.E199K|SPATA7_ENST00000045347.7_Missense_Mutation_p.E231K|SPATA7_ENST00000356583.5_Missense_Mutation_p.E199K	NM_018418.4	NP_060888.2	Q9P0W8	SPAT7_HUMAN	spermatogenesis associated 7	231					response to stimulus (GO:0050896)|visual perception (GO:0007601)					cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	18						TAAACATTCTGAACTCTTTTC	0.423																																																	0													63.0	64.0	64.0					14																	88892894		2203	4300	6503	SO:0001583	missense	55812			AF144487	CCDS9883.1, CCDS32132.1	14q31.3	2011-02-17				ENSG00000042317			20423	protein-coding gene	gene with protein product		609868	"""Leber congenital amaurosis 3"""	LCA3		9799089, 19268277	Standard	NM_018418		Approved	HSD3	uc001xwq.3	Q9P0W8		ENST00000393545.4:c.691G>A	14.37:g.88892894G>A	ENSP00000377176:p.Glu231Lys		Q5BKY5|Q8WX30|Q96HF3|Q9H0X0|Q9P0W7	Missense_Mutation	SNP	NULL	p.E231K	ENST00000393545.4	37	c.691	CCDS9883.1	14	.	.	.	.	.	.	.	.	.	.	G	19.08	3.756941	0.69648	.	.	ENSG00000042317	ENST00000556553;ENST00000393545;ENST00000356583;ENST00000553885;ENST00000045347	T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06	5.34	5.34	0.76211	.	0.635010	0.16444	N	0.214187	T	0.38295	0.1035	M	0.64997	1.995	0.33482	D	0.587586	P;P;B	0.49559	0.925;0.827;0.01	P;P;B	0.52159	0.691;0.526;0.016	T	0.49872	-0.8893	10	0.66056	D	0.02	-4.8915	18.1813	0.89779	0.0:0.0:1.0:0.0	.	199;199;231	A8K3L6;Q9P0W8-2;Q9P0W8	.;.;SPAT7_HUMAN	K	199;231;199;217;231	ENSP00000451128:E199K;ENSP00000377176:E231K;ENSP00000348991:E199K;ENSP00000450606:E217K;ENSP00000045347:E231K	ENSP00000045347:E231K	E	+	1	0	SPATA7	87962647	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.110000	0.50352	2.642000	0.89623	0.650000	0.86243	GAA	SPATA7	-	NULL		0.423	SPATA7-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATA7	HGNC	protein_coding	OTTHUMT00000410172.1	G			88892894	+1	no_errors	ENST00000393545	ensembl	human	known	70_37	missense	SNP	1.000	A
SPATC1	375686	genome.wustl.edu	37	8	145101575	145101575	+	Missense_Mutation	SNP	G	G	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr8:145101575G>C	ENST00000377470.3	+	5	1596	c.1494G>C	c.(1492-1494)caG>caC	p.Q498H	CTD-3065J16.6_ENST00000528912.1_RNA|CTD-3065J16.6_ENST00000561181.1_RNA|SPATC1_ENST00000447830.2_3'UTR	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	498						centrosome (GO:0005813)|cytoplasm (GO:0005737)				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCTGTGCCAGAGGCTCACAC	0.622																																																	0													60.0	53.0	55.0					8																	145101575		2203	4299	6502	SO:0001583	missense	375686			BC053547	CCDS6413.2, CCDS47937.1	8q24.3	2005-01-11			ENSG00000186583	ENSG00000186583			30510	protein-coding gene	gene with protein product		610874				15280373	Standard	NM_198572		Approved	MGC61633, SPATA15, SPERIOLIN	uc011lkw.2	Q76KD6	OTTHUMG00000156976	ENST00000377470.3:c.1494G>C	8.37:g.145101575G>C	ENSP00000366690:p.Gln498His		B4DWW9|Q5U5I8|Q7Z6L7	Missense_Mutation	SNP	NULL	p.Q498H	ENST00000377470.3	37	c.1494	CCDS6413.2	8	.	.	.	.	.	.	.	.	.	.	G	17.03	3.285439	0.59867	.	.	ENSG00000186583	ENST00000377470	T	0.47528	0.84	5.07	5.07	0.68467	.	0.181464	0.40302	N	0.001130	T	0.67571	0.2907	M	0.74258	2.255	0.80722	D	1	D	0.67145	0.996	D	0.77004	0.989	T	0.71140	-0.4679	10	0.66056	D	0.02	-25.3017	13.9492	0.64106	0.0:0.0:1.0:0.0	.	498	Q76KD6	SPERI_HUMAN	H	498	ENSP00000366690:Q498H	ENSP00000366690:Q498H	Q	+	3	2	SPATC1	145173563	1.000000	0.71417	0.996000	0.52242	0.523000	0.34469	2.776000	0.47709	2.359000	0.80004	0.655000	0.94253	CAG	SPATC1	-	NULL		0.622	SPATC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPATC1	HGNC	protein_coding	OTTHUMT00000346926.1	G	NM_198572		145101575	+1	no_errors	ENST00000377470	ensembl	human	known	70_37	missense	SNP	0.980	C
SPTAN1	6709	genome.wustl.edu	37	9	131346737	131346737	+	Silent	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr9:131346737C>T	ENST00000372731.4	+	17	2480	c.2370C>T	c.(2368-2370)ttC>ttT	p.F790F	SPTAN1_ENST00000358161.5_Silent_p.F790F|SPTAN1_ENST00000372739.3_Silent_p.F790F	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	790					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AGCAGCTCTTCCGGGATGTTG	0.557																																					NSCLC(120;833 1744 2558 35612 37579)												0													50.0	50.0	50.0					9																	131346737		2203	4300	6503	SO:0001819	synonymous_variant	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.2370C>T	9.37:g.131346737C>T			Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Silent	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.F790	ENST00000372731.4	37	c.2370	CCDS6905.1	9																																																																																			SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.557	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	C	NM_003127		131346737	+1	no_errors	ENST00000358161	ensembl	human	known	70_37	silent	SNP	1.000	T
SPTAN1	6709	genome.wustl.edu	37	9	131348188	131348188	+	Nonsense_Mutation	SNP	G	G	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr9:131348188G>T	ENST00000372731.4	+	19	2832	c.2722G>T	c.(2722-2724)Gag>Tag	p.E908*	SPTAN1_ENST00000358161.5_Nonsense_Mutation_p.E908*|SPTAN1_ENST00000372739.3_Nonsense_Mutation_p.E908*	NM_001195532.1|NM_003127.3	NP_001182461.1|NP_003118.2	Q13813	SPTN1_HUMAN	spectrin, alpha, non-erythrocytic 1	908					actin filament capping (GO:0051693)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cuticular plate (GO:0032437)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intracellular membrane-bounded organelle (GO:0043231)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|spectrin (GO:0008091)|vesicle (GO:0031982)|Z disc (GO:0030018)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CTGGATGCGGGAGAAGGAACC	0.577																																					NSCLC(120;833 1744 2558 35612 37579)												0													103.0	92.0	96.0					9																	131348188		2203	4300	6503	SO:0001587	stop_gained	6709			M19725	CCDS6905.1, CCDS48036.1, CCDS75914.1	9q34.11	2013-01-10	2012-06-15		ENSG00000197694	ENSG00000197694		"""EF-hand domain containing"""	11273	protein-coding gene	gene with protein product	"""alpha-fodrin"""	182810				3336352	Standard	NM_003127		Approved		uc004bvm.4	Q13813	OTTHUMG00000020754	ENST00000372731.4:c.2722G>T	9.37:g.131348188G>T	ENSP00000361816:p.Glu908*		Q13186|Q15324|Q16606|Q59EF1|Q5VXV5|Q5VXV6|Q7Z6M5|Q9P0V0	Nonsense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF-hand,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain	p.E908*	ENST00000372731.4	37	c.2722	CCDS6905.1	9	.	.	.	.	.	.	.	.	.	.	G	42	9.385876	0.99155	.	.	ENSG00000197694	ENST00000358161;ENST00000372731;ENST00000372739;ENST00000372719	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.1131	0.93326	0.0:0.0:1.0:0.0	.	.	.	.	X	908	.	ENSP00000350882:E908X	E	+	1	0	SPTAN1	130388009	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	9.420000	0.97426	2.832000	0.97577	0.655000	0.94253	GAG	SPTAN1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.577	SPTAN1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTAN1	HGNC	protein_coding	OTTHUMT00000054472.1	G	NM_003127		131348188	+1	no_errors	ENST00000358161	ensembl	human	known	70_37	nonsense	SNP	1.000	T
SSH3	54961	genome.wustl.edu	37	11	67072324	67072324	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr11:67072324C>T	ENST00000308127.4	+	3	363	c.185C>T	c.(184-186)tCt>tTt	p.S62F	SSH3_ENST00000532181.1_3'UTR|SSH3_ENST00000308298.7_Missense_Mutation_p.S62F|SSH3_ENST00000376757.5_Missense_Mutation_p.S62F	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	62					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GAGGCCAGTTCTGAGCCAACA	0.632																																																	0													55.0	56.0	56.0					11																	67072324		2200	4295	6495	SO:0001583	missense	54961			AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.185C>T	11.37:g.67072324C>T	ENSP00000312081:p.Ser62Phe		Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat	p.S62F	ENST00000308127.4	37	c.185	CCDS8157.1	11	.	.	.	.	.	.	.	.	.	.	C	9.290	1.050358	0.19827	.	.	ENSG00000172830	ENST00000308127;ENST00000308298;ENST00000376757	T;T;T	0.32988	3.71;1.43;3.77	4.65	2.67	0.31697	.	1.801060	0.02658	N	0.107215	T	0.22360	0.0539	L	0.32530	0.975	0.09310	N	1	B	0.29805	0.257	B	0.21151	0.033	T	0.15350	-1.0440	10	0.23891	T	0.37	4.5795	4.5847	0.12277	0.2136:0.6654:0.0:0.121	.	62	Q8TE77	SSH3_HUMAN	F	62	ENSP00000312081:S62F;ENSP00000310055:S62F;ENSP00000365948:S62F	ENSP00000312081:S62F	S	+	2	0	SSH3	66828900	0.000000	0.05858	0.001000	0.08648	0.084000	0.17831	0.442000	0.21628	0.503000	0.28060	0.561000	0.74099	TCT	SSH3	-	NULL		0.632	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SSH3	HGNC	protein_coding	OTTHUMT00000393167.1	C	NM_018276		67072324	+1	no_errors	ENST00000308127	ensembl	human	known	70_37	missense	SNP	0.002	T
STAB2	55576	genome.wustl.edu	37	12	103988265	103988265	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr12:103988265G>A	ENST00000388887.2	+	3	512	c.308G>A	c.(307-309)gGc>gAc	p.G103D	U8_ENST00000391292.1_RNA	NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TGTTGTCCTGGCCGCTGGGGC	0.498																																																	0													143.0	127.0	133.0					12																	103988265		2203	4300	6503	SO:0001583	missense	55576			AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.308G>A	12.37:g.103988265G>A	ENSP00000373539:p.Gly103Asp			Missense_Mutation	SNP	pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF_laminin,smart_Prot_inh_squash,smart_EGF-like_Ca-bd,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link	p.G103D	ENST00000388887.2	37	c.308	CCDS31888.1	12	.	.	.	.	.	.	.	.	.	.	G	20.2	3.951813	0.73787	.	.	ENSG00000136011	ENST00000388887	D	0.88201	-2.35	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.95446	0.8521	M	0.92555	3.32	0.48395	D	0.99964	D	0.71674	0.998	P	0.62649	0.905	D	0.95942	0.8947	10	0.87932	D	0	.	17.2896	0.87152	0.0:0.0:1.0:0.0	.	103	Q8WWQ8	STAB2_HUMAN	D	103	ENSP00000373539:G103D	ENSP00000373539:G103D	G	+	2	0	STAB2	102512395	1.000000	0.71417	0.913000	0.36048	0.543000	0.35085	5.829000	0.69316	2.894000	0.99253	0.591000	0.81541	GGC	STAB2	-	NULL		0.498	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STAB2	HGNC	protein_coding	OTTHUMT00000407089.1	G			103988265	+1	no_errors	ENST00000388887	ensembl	human	known	70_37	missense	SNP	0.977	A
STARD8	9754	genome.wustl.edu	37	X	67940224	67940224	+	Nonsense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chrX:67940224C>T	ENST00000252336.6	+	7	2140	c.1768C>T	c.(1768-1770)Cag>Tag	p.Q590*	STARD8_ENST00000374597.3_Nonsense_Mutation_p.Q590*|STARD8_ENST00000374599.3_Nonsense_Mutation_p.Q670*	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	590	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						ACAGAGCATTCAGCAAGCCAT	0.652																																																	0													30.0	22.0	25.0					X																	67940224		2199	4286	6485	SO:0001587	stop_gained	9754			D80011	CCDS14390.1, CCDS48134.1	Xq13.1	2011-09-13	2007-08-16		ENSG00000130052	ENSG00000130052		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19161	protein-coding gene	gene with protein product		300689	"""START domain containing 8"""			8724849	Standard	NM_001142504		Approved	KIAA0189, ARHGAP38	uc004dxb.3	Q92502	OTTHUMG00000021748	ENST00000252336.6:c.1768C>T	X.37:g.67940224C>T	ENSP00000252336:p.Gln590*		A8K6T2|D3DVT9|Q5JST0|Q68DG7	Nonsense_Mutation	SNP	pfam_START_lipid-bd,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom	p.Q670*	ENST00000252336.6	37	c.2008	CCDS14390.1	X	.	.	.	.	.	.	.	.	.	.	C	42	9.642923	0.99227	.	.	ENSG00000130052	ENST00000252336;ENST00000374599;ENST00000374597	.	.	.	4.25	4.25	0.50352	.	0.000000	0.64402	D	0.000005	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	13.1523	0.59496	0.0:1.0:0.0:0.0	.	.	.	.	X	590;670;590	.	ENSP00000252336:Q590X	Q	+	1	0	STARD8	67856949	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.232000	0.78116	1.957000	0.56846	0.600000	0.82982	CAG	STARD8	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.652	STARD8-201	KNOWN	basic|CCDS	protein_coding	STARD8	HGNC	protein_coding	OTTHUMT00000057026.2	C	NM_014725		67940224	+1	no_errors	ENST00000374599	ensembl	human	known	70_37	nonsense	SNP	1.000	T
STIP1	10963	genome.wustl.edu	37	11	63960623	63960623	+	Missense_Mutation	SNP	C	C	G			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr11:63960623C>G	ENST00000305218.4	+	2	230	c.83C>G	c.(82-84)tCc>tGc	p.S28C	STIP1_ENST00000358794.5_Missense_Mutation_p.S75C|STIP1_ENST00000540501.1_3'UTR|STIP1_ENST00000543847.1_Missense_Mutation_p.S28C|STIP1_ENST00000538945.1_Missense_Mutation_p.S28C	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	28					response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						CAGTGCTACTCCGAAGCTATT	0.517																																																	0													189.0	143.0	159.0					11																	63960623		2201	4297	6498	SO:0001583	missense	10963			BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439		"""Tetratricopeptide (TTC) repeat domain containing"""	11387	protein-coding gene	gene with protein product	"""Hsp70/Hsp90-organizing protein"""	605063	"""stress-induced-phosphoprotein 1"""			1569099	Standard	NM_006819		Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000305218.4:c.83C>G	11.37:g.63960623C>G	ENSP00000305958:p.Ser28Cys		B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_STI1_HS-bd,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S28C	ENST00000305218.4	37	c.83	CCDS8058.1	11	.	.	.	.	.	.	.	.	.	.	C	17.77	3.470267	0.63625	.	.	ENSG00000168439	ENST00000358794;ENST00000305218;ENST00000538945;ENST00000543847	T;T;T;T	0.61040	0.14;0.14;0.14;0.14	5.19	5.19	0.71726	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.223432	0.44902	D	0.000402	T	0.78547	0.4300	M	0.89414	3.03	0.58432	D	0.999998	P;P;D	0.76494	0.877;0.94;0.999	P;P;P	0.61275	0.698;0.677;0.886	T	0.83241	-0.0058	10	0.87932	D	0	-8.8832	17.8892	0.88866	0.0:1.0:0.0:0.0	.	28;28;28	F5H0T1;P31948;F5H783	.;STIP1_HUMAN;.	C	75;28;28;28	ENSP00000351646:S75C;ENSP00000305958:S28C;ENSP00000445957:S28C;ENSP00000442704:S28C	ENSP00000305958:S28C	S	+	2	0	STIP1	63717199	1.000000	0.71417	0.925000	0.36789	0.011000	0.07611	7.259000	0.78381	2.593000	0.87608	0.655000	0.94253	TCC	STIP1	-	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.517	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STIP1	HGNC	protein_coding	OTTHUMT00000396289.2	C	NM_006819		63960623	+1	no_errors	ENST00000305218	ensembl	human	known	70_37	missense	SNP	1.000	G
STIP1	10963	genome.wustl.edu	37	11	63963265	63963265	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr11:63963265C>T	ENST00000305218.4	+	5	799	c.652C>T	c.(652-654)Ctt>Ttt	p.L218F	STIP1_ENST00000358794.5_Missense_Mutation_p.L265F|STIP1_ENST00000540501.1_3'UTR|STIP1_ENST00000543847.1_Missense_Mutation_p.L218F|STIP1_ENST00000538945.1_Missense_Mutation_p.L194F	NM_006819.2	NP_006810.1	P31948	STIP1_HUMAN	stress-induced phosphoprotein 1	218					response to stress (GO:0006950)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						GGAAGAAGATCTTCCAGAGAA	0.458																																																	0													138.0	148.0	144.0					11																	63963265		2201	4297	6498	SO:0001583	missense	10963			BC039299	CCDS8058.1, CCDS60827.1, CCDS60828.1	11q13	2014-01-13	2014-01-13		ENSG00000168439	ENSG00000168439		"""Tetratricopeptide (TTC) repeat domain containing"""	11387	protein-coding gene	gene with protein product	"""Hsp70/Hsp90-organizing protein"""	605063	"""stress-induced-phosphoprotein 1"""			1569099	Standard	NM_006819		Approved	HOP, STI1	uc001nyk.1	P31948	OTTHUMG00000167789	ENST00000305218.4:c.652C>T	11.37:g.63963265C>T	ENSP00000305958:p.Leu218Phe		B4DM70|F5H0T1|G3XAD8|Q3ZCU9|Q5TZU9	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_STI1_HS-bd,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L218F	ENST00000305218.4	37	c.652	CCDS8058.1	11	.	.	.	.	.	.	.	.	.	.	C	16.82	3.229790	0.58777	.	.	ENSG00000168439	ENST00000358794;ENST00000305218;ENST00000538945;ENST00000543847	T;T;T;T	0.72051	2.44;2.67;2.44;-0.62	5.05	5.05	0.67936	.	0.060879	0.64402	D	0.000004	T	0.81108	0.4754	M	0.71296	2.17	0.52501	D	0.999954	D;D;P	0.71674	0.998;0.997;0.739	D;P;P	0.70487	0.969;0.878;0.63	T	0.81353	-0.0971	10	0.54805	T	0.06	-19.1999	11.5632	0.50790	0.0:0.9146:0.0:0.0854	.	194;218;218	F5H0T1;P31948;F5H783	.;STIP1_HUMAN;.	F	265;218;194;218	ENSP00000351646:L265F;ENSP00000305958:L218F;ENSP00000445957:L194F;ENSP00000442704:L218F	ENSP00000305958:L218F	L	+	1	0	STIP1	63719841	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	3.659000	0.54489	2.744000	0.94065	0.561000	0.74099	CTT	STIP1	-	NULL		0.458	STIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STIP1	HGNC	protein_coding	OTTHUMT00000396289.2	C	NM_006819		63963265	+1	no_errors	ENST00000305218	ensembl	human	known	70_37	missense	SNP	1.000	T
STK38	11329	genome.wustl.edu	37	6	36483160	36483160	+	Silent	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:36483160G>A	ENST00000229812.7	-	7	909	c.624C>T	c.(622-624)ttC>ttT	p.F208F		NM_007271.2	NP_009202.1			serine/threonine kinase 38											NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTCTGTGGATGAATCCAAGTT	0.428																																					Colon(180;997 3561 16158)												0													254.0	215.0	228.0					6																	36483160		2203	4300	6503	SO:0001819	synonymous_variant	11329				CCDS4822.1	6p21	2006-10-06			ENSG00000112079	ENSG00000112079			17847	protein-coding gene	gene with protein product		606964				7761441	Standard	NM_007271		Approved	NDR	uc003omh.3	Q15208	OTTHUMG00000014598	ENST00000229812.7:c.624C>T	6.37:g.36483160G>A				Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.F208	ENST00000229812.7	37	c.624	CCDS4822.1	6																																																																																			STK38	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.428	STK38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK38	HGNC	protein_coding	OTTHUMT00000040346.1	G	NM_007271		36483160	-1	no_errors	ENST00000229812	ensembl	human	known	70_37	silent	SNP	1.000	A
STRN	6801	genome.wustl.edu	37	2	37096817	37096817	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr2:37096817C>T	ENST00000263918.4	-	11	1387	c.1379G>A	c.(1378-1380)aGa>aAa	p.R460K	RNU6-577P_ENST00000516947.1_RNA|STRN_ENST00000379213.2_Missense_Mutation_p.R411K	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	460					dendrite development (GO:0016358)|locomotory behavior (GO:0007626)|negative regulation of cell proliferation (GO:0008285)|tight junction assembly (GO:0070830)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|estrogen receptor binding (GO:0030331)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				AAAGTGACTTCTCAATGTAAA	0.368																																																	0													146.0	113.0	124.0					2																	37096817		2203	4300	6503	SO:0001583	missense	6801			AJ223814	CCDS1784.1	2p22.2	2013-01-10	2001-11-28		ENSG00000115808	ENSG00000115808		"""WD repeat domain containing"""	11424	protein-coding gene	gene with protein product		614765	"""striatin, calmodulin-binding protein"""			9693043, 8769426	Standard	NM_003162		Approved	SG2NA	uc002rpn.3	O43815	OTTHUMG00000100959	ENST00000263918.4:c.1379G>A	2.37:g.37096817C>T	ENSP00000263918:p.Arg460Lys		Q3KP65|Q53TQ8|Q9NP38	Missense_Mutation	SNP	pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R460K	ENST00000263918.4	37	c.1379	CCDS1784.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.693176	0.96793	.	.	ENSG00000115808	ENST00000263918;ENST00000538092;ENST00000379213	T;T	0.59906	0.23;0.23	5.28	5.28	0.74379	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.65616	0.2708	N	0.21324	0.655	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.66456	-0.5919	10	0.41790	T	0.15	-17.8684	18.9244	0.92538	0.0:1.0:0.0:0.0	.	411;460	O43815-2;O43815	.;STRN_HUMAN	K	460;435;411	ENSP00000263918:R460K;ENSP00000368513:R411K	ENSP00000263918:R460K	R	-	2	0	STRN	36950321	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.809000	0.86057	2.466000	0.83321	0.585000	0.79938	AGA	STRN	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.368	STRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRN	HGNC	protein_coding	OTTHUMT00000218568.1	C			37096817	-1	no_errors	ENST00000263918	ensembl	human	known	70_37	missense	SNP	1.000	T
SUGP1	57794	genome.wustl.edu	37	19	19391009	19391009	+	Silent	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:19391009C>T	ENST00000247001.5	-	9	1682	c.1335G>A	c.(1333-1335)ctG>ctA	p.L445L		NM_172231.3	NP_757386.2	Q8IWZ8	SUGP1_HUMAN	SURP and G patch domain containing 1	445	Gln/Met-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	22						GCTGCTCCTTCAGCTGCTTCT	0.617																																																	0													98.0	79.0	85.0					19																	19391009		2203	4300	6503	SO:0001819	synonymous_variant	57794			AF521128	CCDS12399.1	19p13	2013-01-28	2010-08-10	2010-08-10		ENSG00000105705		"""G patch domain containing"""	18643	protein-coding gene	gene with protein product		607992	"""splicing factor 4"""	SF4		12594045	Standard	NM_172231		Approved	F23858, DKFZp434E2216, RBP	uc002nmh.3	Q8IWZ8		ENST00000247001.5:c.1335G>A	19.37:g.19391009C>T			O60378|Q6P3X9|Q8TCQ4|Q8WWT4|Q8WWT5|Q9NTG3	Silent	SNP	pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom	p.L445	ENST00000247001.5	37	c.1335	CCDS12399.1	19																																																																																			SUGP1	-	NULL		0.617	SUGP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUGP1	HGNC	protein_coding	OTTHUMT00000460128.4	C	NM_021164		19391009	-1	no_errors	ENST00000247001	ensembl	human	known	70_37	silent	SNP	0.998	T
SYNCRIP	10492	genome.wustl.edu	37	6	86349998	86349998	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:86349998C>T	ENST00000369622.3	-	4	816	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	SYNCRIP_ENST00000355238.6_Missense_Mutation_p.E106K	NM_001159675.1|NM_006372.4	NP_001153147.1|NP_006363.4	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	106					cellular response to interferon-gamma (GO:0071346)|CRD-mediated mRNA stabilization (GO:0070934)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of translation (GO:0017148)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|endoplasmic reticulum (GO:0005783)|GAIT complex (GO:0097452)|histone pre-mRNA 3'end processing complex (GO:0071204)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		CCTTGTTTTTCTCTCTGCCTG	0.328																																																	0													185.0	178.0	180.0					6																	86349998		2203	4300	6503	SO:0001583	missense	10492			AF037448	CCDS5005.1, CCDS55041.1, CCDS75491.1	6q14-q15	2013-05-23			ENSG00000135316	ENSG00000135316		"""RNA binding motif (RRM) containing"""	16918	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein Q"""					9847309, 11352648	Standard	NM_006372		Approved	NSAP1, GRY-RBP, dJ3J17.2, HNRPQ1, hnRNP-Q, HNRNPQ	uc003pla.2	O60506	OTTHUMG00000015141	ENST00000369622.3:c.316G>A	6.37:g.86349998C>T	ENSP00000358635:p.Glu106Lys		E1P501|E1P502|Q53H05|Q5TCG2|Q5TCG3|Q8IW78|Q8N599|Q96LC1|Q96LC2|Q9Y583	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac	p.E106K	ENST00000369622.3	37	c.316	CCDS5005.1	6	.	.	.	.	.	.	.	.	.	.	C	22.1	4.250202	0.80024	.	.	ENSG00000135316	ENST00000355238;ENST00000369622;ENST00000444272	T;T	0.27104	1.69;1.69	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.24314	0.0589	L	0.55743	1.74	0.80722	D	1	B;B;B;P;B;B	0.45348	0.149;0.232;0.077;0.856;0.232;0.23	B;B;B;P;B;B	0.52881	0.032;0.07;0.032;0.712;0.07;0.053	T	0.02781	-1.1111	10	0.07813	T	0.8	.	18.8312	0.92141	0.0:1.0:0.0:0.0	.	106;106;8;106;106;106	O60506;O60506-2;B7Z645;O60506-4;O60506-3;B2R8Z8	HNRPQ_HUMAN;.;.;.;.;.	K	106	ENSP00000347380:E106K;ENSP00000358635:E106K	ENSP00000347380:E106K	E	-	1	0	SYNCRIP	86406717	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.750000	0.85110	2.528000	0.85240	0.655000	0.94253	GAA	SYNCRIP	-	tigrfam_HnRNP_R/Q_splicing_fac		0.328	SYNCRIP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNCRIP	HGNC	protein_coding	OTTHUMT00000041396.1	C	NM_006372		86349998	-1	no_errors	ENST00000369622	ensembl	human	known	70_37	missense	SNP	1.000	T
SYNE2	23224	genome.wustl.edu	37	14	64679634	64679634	+	Missense_Mutation	SNP	G	G	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr14:64679634G>C	ENST00000344113.4	+	105	19179	c.18967G>C	c.(18967-18969)Gag>Cag	p.E6323Q	SYNE2_ENST00000394768.2_Missense_Mutation_p.E2708Q|SYNE2_ENST00000554584.1_Missense_Mutation_p.E6282Q|SYNE2_ENST00000554805.1_Missense_Mutation_p.E106Q|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000555002.1_Missense_Mutation_p.E2957Q|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6323Q|SYNE2_ENST00000357395.3_Missense_Mutation_p.E2708Q|SYNE2_ENST00000458046.2_5'Flank|SYNE2_ENST00000555022.1_Missense_Mutation_p.E201Q|SYNE2_ENST00000441438.2_5'Flank	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6323					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGTGCTGATTGAGGATGAGCT	0.547																																																	0													95.0	93.0	94.0					14																	64679634		2203	4300	6503	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.18967G>C	14.37:g.64679634G>C	ENSP00000341781:p.Glu6323Gln		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E6323Q	ENST00000344113.4	37	c.18967	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	15.79	2.936404	0.52972	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805	T;T;T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41;1.41;1.41	5.34	5.34	0.76211	.	0.000000	0.50627	D	0.000120	T	0.56790	0.2009	M	0.66378	2.025	0.80722	D	1	D;D;D;D;D	0.89917	0.994;0.989;1.0;0.986;1.0	D;P;D;D;D	0.87578	0.966;0.893;0.998;0.975;0.994	T	0.57871	-0.7736	10	0.66056	D	0.02	.	19.4171	0.94706	0.0:0.0:1.0:0.0	.	2708;711;6282;6323;6323	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	Q	6323;2708;6323;6282;6288;2957;2708;201;106	ENSP00000350719:E6323Q;ENSP00000349969:E2708Q;ENSP00000341781:E6323Q;ENSP00000452570:E6282Q;ENSP00000450831:E2957Q;ENSP00000378249:E2708Q;ENSP00000451009:E201Q;ENSP00000450605:E106Q	ENSP00000261678:E6288Q	E	+	1	0	SYNE2	63749387	1.000000	0.71417	0.687000	0.30102	0.742000	0.42306	9.607000	0.98328	2.655000	0.90218	0.462000	0.41574	GAG	SYNE2	-	smart_Spectrin/alpha-actinin		0.547	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64679634	+1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	1.000	C
TAB2	23118	genome.wustl.edu	37	6	149699241	149699241	+	Missense_Mutation	SNP	G	G	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr6:149699241G>C	ENST00000367456.1	+	4	767	c.190G>C	c.(190-192)Gat>Cat	p.D64H	TAB2_ENST00000536230.1_Missense_Mutation_p.D32H|TAB2_ENST00000392282.1_Missense_Mutation_p.D64H|TAB2_ENST00000538427.1_Missense_Mutation_p.D64H|TAB2_ENST00000286332.5_Missense_Mutation_p.D64H			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	64					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						GAATTTTTCAGATGATTCTGG	0.388																																																	0													93.0	87.0	89.0					6																	149699241		2203	4300	6503	SO:0001583	missense	23118			AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 2"""	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.190G>C	6.37:g.149699241G>C	ENSP00000356426:p.Asp64His		B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	pfam_CUE,pfam_Znf_RanBP2,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2	p.D64H	ENST00000367456.1	37	c.190	CCDS5214.1	6	.	.	.	.	.	.	.	.	.	.	G	11.80	1.748209	0.30955	.	.	ENSG00000055208	ENST00000536230;ENST00000392282;ENST00000538427;ENST00000367456;ENST00000286332	T;T;T;T;T	0.77620	-1.11;-1.08;-1.09;-1.09;-1.09	5.82	5.82	0.92795	.	0.136352	0.64402	D	0.000004	D	0.83464	0.5260	L	0.59436	1.845	0.80722	D	1	D;D	0.71674	0.998;0.998	P;P	0.61397	0.888;0.888	D	0.84221	0.0461	10	0.87932	D	0	-14.9087	20.1064	0.97896	0.0:0.0:1.0:0.0	.	32;64	B4DIR9;Q9NYJ8	.;TAB2_HUMAN	H	32;64;64;64;64	ENSP00000443206:D32H;ENSP00000376106:D64H;ENSP00000445752:D64H;ENSP00000356426:D64H;ENSP00000286332:D64H	ENSP00000286332:D64H	D	+	1	0	TAB2	149740934	1.000000	0.71417	0.984000	0.44739	0.157000	0.22087	7.139000	0.77314	2.745000	0.94114	0.650000	0.86243	GAT	TAB2	-	NULL		0.388	TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAB2	HGNC	protein_coding	OTTHUMT00000042633.3	G			149699241	+1	no_errors	ENST00000286332	ensembl	human	known	70_37	missense	SNP	0.998	C
TAF1A	9015	genome.wustl.edu	37	1	222732050	222732050	+	Silent	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:222732050C>T	ENST00000352967.4	-	11	1493	c.1305G>A	c.(1303-1305)cgG>cgA	p.R435R	TAF1A_ENST00000391882.1_Silent_p.R321R|TAF1A_ENST00000366890.1_Silent_p.R321R|TAF1A_ENST00000350027.4_Silent_p.R435R	NM_005681.3	NP_005672.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	435					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RNA polymerase I transcription factor complex (GO:0000120)	DNA binding (GO:0003677)			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		ATCTCTTCATCCGCTTAATTT	0.303																																																	0													83.0	85.0	84.0					1																	222732050		2201	4285	6486	SO:0001819	synonymous_variant	9015			L39060	CCDS1531.1, CCDS1532.1	1q42	2008-02-05	2002-08-29		ENSG00000143498	ENSG00000143498			11532	protein-coding gene	gene with protein product		604903	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kD"""			7801123	Standard	NM_005681		Approved	TAFI48, SL1	uc009xdz.2	Q15573	OTTHUMG00000037544	ENST00000352967.4:c.1305G>A	1.37:g.222732050C>T			B2RDZ8|D3DTB7|Q9NWA1	Silent	SNP	pirsf_RNA_pol_I_TAF1A/TAFI48	p.R435	ENST00000352967.4	37	c.1305	CCDS1531.1	1																																																																																			TAF1A	-	pirsf_RNA_pol_I_TAF1A/TAFI48		0.303	TAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1A	HGNC	protein_coding	OTTHUMT00000091493.2	C	NM_005681		222732050	-1	no_errors	ENST00000350027	ensembl	human	known	70_37	silent	SNP	0.347	T
TAF7L	54457	genome.wustl.edu	37	X	100541591	100541591	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chrX:100541591C>T	ENST00000372907.3	-	3	386	c.375G>A	c.(373-375)atG>atA	p.M125I	TAF7L_ENST00000356784.1_Missense_Mutation_p.M39I|TAF7L_ENST00000372905.2_Missense_Mutation_p.M39I|TAF7L_ENST00000324762.6_Missense_Mutation_p.M39I|Y_RNA_ENST00000410271.1_RNA	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	125					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						GTTTATCCTTCATCTTGACAC	0.338																																					Ovarian(104;431 1530 3210 15406 18594)												0													110.0	85.0	93.0					X																	100541591		2203	4300	6503	SO:0001583	missense	54457			AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.375G>A	X.37:g.100541591C>T	ENSP00000361998:p.Met125Ile		Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Missense_Mutation	SNP	pfam_TAFII55_prot_cons_reg	p.M125I	ENST00000372907.3	37	c.375	CCDS35347.1	X	.	.	.	.	.	.	.	.	.	.	C	9.891	1.204277	0.22205	.	.	ENSG00000102387	ENST00000372907;ENST00000372905;ENST00000324762;ENST00000356784	T;T;T;T	0.21543	2.55;2.01;2.01;2.0	5.83	-1.86	0.07760	TAFII55 protein, conserved region (1);	0.912686	0.09269	N	0.825405	T	0.13030	0.0316	L	0.35793	1.09	0.09310	N	0.999998	B;B	0.15141	0.012;0.004	B;B	0.16722	0.016;0.003	T	0.36672	-0.9738	10	0.51188	T	0.08	1.3751	1.0002	0.01475	0.2225:0.3366:0.1069:0.3339	.	125;39	Q5H9L4;Q5H9L4-3	TAF7L_HUMAN;.	I	125;39;39;39	ENSP00000361998:M125I;ENSP00000361996:M39I;ENSP00000320283:M39I;ENSP00000349235:M39I	ENSP00000320283:M39I	M	-	3	0	TAF7L	100428247	0.030000	0.19436	0.043000	0.18650	0.005000	0.04900	0.026000	0.13599	-0.249000	0.09569	-0.213000	0.12676	ATG	TAF7L	-	pfam_TAFII55_prot_cons_reg		0.338	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TAF7L	HGNC	protein_coding	OTTHUMT00000057526.2	C			100541591	-1	no_errors	ENST00000372907	ensembl	human	known	70_37	missense	SNP	0.028	T
TAS2R31	259290	genome.wustl.edu	37	12	11183564	11183564	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr12:11183564C>T	ENST00000390675.2	-	1	442	c.371G>A	c.(370-372)aGa>aAa	p.R124K	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	124					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bitter taste receptor activity (GO:0033038)			kidney(1)|lung(6)	7						ACTCTTAACTCTCCTCTTTAA	0.388																																																	0													92.0	104.0	100.0					12																	11183564		2040	4254	6294	SO:0001583	missense	259290			AX097748, AF494228	CCDS53747.1	12p13.2	2012-08-22				ENSG00000256436		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	19113	protein-coding gene	gene with protein product		612669	"""taste receptor, type 2, member 44"""	TAS2R44			Standard	NM_176885		Approved	T2R31, T2R53	uc001qzo.1	P59538		ENST00000390675.2:c.371G>A	12.37:g.11183564C>T	ENSP00000375093:p.Arg124Lys		P59547|Q17R84|Q645X5	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.R124K	ENST00000390675.2	37	c.371	CCDS53747.1	12	.	.	.	.	.	.	.	.	.	.	.	9.330	1.060270	0.19987	.	.	ENSG00000256436	ENST00000390675	T	0.01051	5.4	2.45	1.44	0.22558	.	.	.	.	.	T	0.01421	0.0046	L	0.43598	1.365	0.09310	N	1	B	0.18863	0.031	B	0.29785	0.107	T	0.46359	-0.9197	9	0.41790	T	0.15	.	4.3197	0.11011	0.0:0.7562:0.0:0.2438	.	124	P59538	T2R31_HUMAN	K	124	ENSP00000375093:R124K	ENSP00000375093:R124K	R	-	2	0	TAS2R31	11074831	0.004000	0.15560	0.007000	0.13788	0.328000	0.28507	0.729000	0.26028	0.284000	0.22305	0.194000	0.17425	AGA	TAS2R31	-	pfam_TAS2_rcpt		0.388	TAS2R31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R31	HGNC	protein_coding	OTTHUMT00000400233.1	C	NM_176885		11183564	-1	no_errors	ENST00000390675	ensembl	human	known	70_37	missense	SNP	0.066	T
TAS2R60	338398	genome.wustl.edu	37	7	143141297	143141297	+	Missense_Mutation	SNP	C	C	G			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr7:143141297C>G	ENST00000332690.1	+	1	752	c.752C>G	c.(751-753)tCt>tGt	p.S251C	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	251					sensory perception of bitter taste (GO:0050913)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					GCTCTCCTCTCTTTTGCCATG	0.498																																																	0													154.0	157.0	156.0					7																	143141297		2203	4300	6503	SO:0001583	missense	338398			AY114094	CCDS5885.1	7q35	2014-07-10			ENSG00000185899	ENSG00000185899		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	20639	protein-coding gene	gene with protein product		613968				12584440	Standard	NM_177437		Approved	T2R60	uc011ktg.2	P59551	OTTHUMG00000154891	ENST00000332690.1:c.752C>G	7.37:g.143141297C>G	ENSP00000327724:p.Ser251Cys		A4D2G8|Q645W8|Q7RTR7	Missense_Mutation	SNP	pfam_TAS2_rcpt	p.S251C	ENST00000332690.1	37	c.752	CCDS5885.1	7	.	.	.	.	.	.	.	.	.	.	C	11.40	1.628715	0.28978	.	.	ENSG00000185899	ENST00000332690	T	0.37915	1.17	5.31	3.51	0.40186	.	0.000000	0.64402	U	0.000001	T	0.52008	0.1708	M	0.63843	1.955	0.09310	N	1	D	0.89917	1.0	D	0.79784	0.993	T	0.40590	-0.9555	10	0.72032	D	0.01	.	7.8017	0.29178	0.0:0.8094:0.0:0.1906	.	251	P59551	T2R60_HUMAN	C	251	ENSP00000327724:S251C	ENSP00000327724:S251C	S	+	2	0	TAS2R60	142851419	0.022000	0.18835	0.001000	0.08648	0.289000	0.27227	1.938000	0.40203	0.615000	0.30124	0.491000	0.48974	TCT	TAS2R60	-	pfam_TAS2_rcpt		0.498	TAS2R60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R60	HGNC	protein_coding	OTTHUMT00000337541.1	C			143141297	+1	no_errors	ENST00000332690	ensembl	human	known	70_37	missense	SNP	0.014	G
TCAM1P	146771	genome.wustl.edu	37	17	61934514	61934514	+	RNA	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr17:61934514C>T	ENST00000478379.1	+	0	139					NR_002947.2				testicular cell adhesion molecule 1, pseudogene																		GTTCATATTTCAGGGGTCCCG	0.567											OREG0024643	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																												146771			AB026156		17q23.3	2013-09-26	2012-12-07	2010-03-12	ENSG00000240280	ENSG00000240280			30707	pseudogene	pseudogene		612756	"""testicular cell adhesion molecule 1 homolog (mouse)"", ""testicular cell adhesion molecule 1 homolog (mouse), pseudogene"""	TCAM1		11195349, 2744760, 19766163	Standard	NR_002947		Approved		uc031rdl.1		OTTHUMG00000154404		17.37:g.61934514C>T		1057		RNA	SNP	-	NULL	ENST00000478379.1	37	NULL		17																																																																																			TCAM1P	-	-		0.567	TCAM1P-002	KNOWN	basic	processed_transcript	TCAM1P	HGNC	pseudogene	OTTHUMT00000335083.1	C			61934514	+1	no_errors	ENST00000478379	ensembl	human	known	70_37	rna	SNP	1.000	T
TENM1	10178	genome.wustl.edu	37	X	123657466	123657466	+	Silent	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chrX:123657466G>A	ENST00000371130.3	-	17	2844	c.2781C>T	c.(2779-2781)ctC>ctT	p.L927L	TENM1_ENST00000422452.2_Silent_p.L927L	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	927					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CGATGGCCACGAGGTCAAAGC	0.393																																																	0													45.0	39.0	41.0					X																	123657466		2203	4300	6503	SO:0001819	synonymous_variant	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.2781C>T	X.37:g.123657466G>A			B2RTR5|Q5JZ17	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.L927	ENST00000371130.3	37	c.2781	CCDS14609.1	X																																																																																			TENM1	-	superfamily_CarboxyPept-like_regulatory		0.393	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	G	NM_014253		123657466	-1	no_errors	ENST00000422452	ensembl	human	known	70_37	silent	SNP	0.013	A
TH	7054	genome.wustl.edu	37	11	2191050	2191050	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr11:2191050C>T	ENST00000381178.1	-	3	253	c.235G>A	c.(235-237)Gag>Aag	p.E79K	TH_ENST00000333684.5_Missense_Mutation_p.E52K|TH_ENST00000352909.3_Missense_Mutation_p.E48K|TH_ENST00000381175.1_Missense_Mutation_p.E75K	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	79					anatomical structure morphogenesis (GO:0009653)|catecholamine biosynthetic process (GO:0042423)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to drug (GO:0035690)|cellular response to glucose stimulus (GO:0071333)|cellular response to growth factor stimulus (GO:0071363)|cellular response to manganese ion (GO:0071287)|cellular response to nicotine (GO:0071316)|cerebral cortex development (GO:0021987)|circadian sleep/wake cycle (GO:0042745)|dopamine biosynthetic process (GO:0042416)|dopamine biosynthetic process from tyrosine (GO:0006585)|eating behavior (GO:0042755)|embryonic camera-type eye morphogenesis (GO:0048596)|epinephrine biosynthetic process (GO:0042418)|eye photoreceptor cell development (GO:0042462)|fatty acid metabolic process (GO:0006631)|glycoside metabolic process (GO:0016137)|heart development (GO:0007507)|heart morphogenesis (GO:0003007)|isoquinoline alkaloid metabolic process (GO:0033076)|learning (GO:0007612)|locomotory behavior (GO:0007626)|mating behavior (GO:0007617)|memory (GO:0007613)|multicellular organismal aging (GO:0010259)|neurotransmitter biosynthetic process (GO:0042136)|norepinephrine biosynthetic process (GO:0042421)|organ morphogenesis (GO:0009887)|phthalate metabolic process (GO:0018963)|phytoalexin metabolic process (GO:0052314)|pigmentation (GO:0043473)|regulation of heart contraction (GO:0008016)|response to activity (GO:0014823)|response to amphetamine (GO:0001975)|response to corticosterone (GO:0051412)|response to electrical stimulus (GO:0051602)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to ether (GO:0045472)|response to herbicide (GO:0009635)|response to hypoxia (GO:0001666)|response to light stimulus (GO:0009416)|response to lipopolysaccharide (GO:0032496)|response to nutrient levels (GO:0031667)|response to peptide hormone (GO:0043434)|response to pyrethroid (GO:0046684)|response to salt stress (GO:0009651)|response to water deprivation (GO:0009414)|response to zinc ion (GO:0010043)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|sphingolipid metabolic process (GO:0006665)|synaptic transmission, dopaminergic (GO:0001963)|synaptic vesicle amine transport (GO:0015842)|terpene metabolic process (GO:0042214)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|melanosome membrane (GO:0033162)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perikaryon (GO:0043204)|smooth endoplasmic reticulum (GO:0005790)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	amino acid binding (GO:0016597)|dopamine binding (GO:0035240)|enzyme binding (GO:0019899)|ferric iron binding (GO:0008199)|ferrous iron binding (GO:0008198)|oxygen binding (GO:0019825)|tetrahydrobiopterin binding (GO:0034617)|tyrosine 3-monooxygenase activity (GO:0004511)			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GCCTCCCGCTCCTTGCGGGCG	0.716																																																	0													13.0	15.0	14.0					11																	2191050		2185	4264	6449	SO:0001583	missense	7054			X05290	CCDS7730.1, CCDS7731.1, CCDS31338.1	11p15.5	2013-06-03			ENSG00000180176	ENSG00000180176	1.14.16.2		11782	protein-coding gene	gene with protein product	"""tyrosine 3-monooxygenase"""	191290					Standard	NM_199292		Approved	DYT5b	uc001lvq.3	P07101	OTTHUMG00000009559	ENST00000381178.1:c.235G>A	11.37:g.2191050C>T	ENSP00000370571:p.Glu79Lys		B7ZL70|B7ZL73|Q0PWM2|Q0PWM3|Q15585|Q15588|Q15589|Q2M3B4	Missense_Mutation	SNP	pfam_Aromatic-AA_hydroxylase_C,pfam_Tyrosine_hydroxylase_CS,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Tyr_3_mOase	p.E79K	ENST00000381178.1	37	c.235	CCDS7731.1	11	.	.	.	.	.	.	.	.	.	.	C	29.8	5.036133	0.93630	.	.	ENSG00000180176	ENST00000381178;ENST00000381175;ENST00000352909;ENST00000333684	D;D;D;D	0.99503	-6.03;-6.03;-5.99;-5.72	3.59	2.64	0.31445	Tyrosine hydroxylase, conserved site (1);	0.000000	0.85682	D	0.000000	D	0.98988	0.9655	L	0.49778	1.585	0.48288	D	0.999628	D;D;D;P;D;D	0.71674	0.998;0.992;0.992;0.95;0.996;0.995	D;P;P;P;D;D	0.68353	0.942;0.893;0.87;0.779;0.957;0.928	D	0.98096	1.0412	10	0.56958	D	0.05	.	9.665	0.39979	0.0:0.8934:0.0:0.1066	.	52;52;48;48;79;75	B7ZL73;Q0PWM2;Q0PWM3;P07101-3;P07101;P07101-2	.;.;.;.;TY3H_HUMAN;.	K	79;75;48;52	ENSP00000370571:E79K;ENSP00000370567:E75K;ENSP00000325951:E48K;ENSP00000328814:E52K	ENSP00000328814:E52K	E	-	1	0	TH	2147626	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	4.328000	0.59253	1.730000	0.51580	0.491000	0.48974	GAG	TH	-	pfam_Tyrosine_hydroxylase_CS,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Tyr_3_mOase		0.716	TH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TH	HGNC	protein_coding	OTTHUMT00000026597.1	C	NM_000360		2191050	-1	no_errors	ENST00000381178	ensembl	human	known	70_37	missense	SNP	1.000	T
TIMELESS	8914	genome.wustl.edu	37	12	56817595	56817595	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr12:56817595G>A	ENST00000553532.1	-	16	2102	c.1952C>T	c.(1951-1953)tCt>tTt	p.S651F	TIMELESS_ENST00000229201.4_Missense_Mutation_p.S650F|TIMELESS_ENST00000554616.1_Intron					timeless circadian clock											NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						AAGTGGAGCAGAGAGGATTTG	0.493																																																	0													153.0	146.0	148.0					12																	56817595		2203	4300	6503	SO:0001583	missense	8914			AF098162	CCDS8918.1	12q13.3	2012-12-14	2012-12-14		ENSG00000111602	ENSG00000111602			11813	protein-coding gene	gene with protein product	"""Tof1 homolog (S. cerevisiae)"", ""timeless circadian clock 1"""	603887	"""timeless (Drosophila) homolog"", ""timeless homolog (Drosophila)"""			9856465	Standard	NM_003920		Approved	hTIM, TIM, TIM1	uc001slf.2	Q9UNS1	OTTHUMG00000170600	ENST00000553532.1:c.1952C>T	12.37:g.56817595G>A	ENSP00000450607:p.Ser651Phe			Missense_Mutation	SNP	pfam_TIMELESS_C,pfam_Timeless	p.S651F	ENST00000553532.1	37	c.1952	CCDS8918.1	12	.	.	.	.	.	.	.	.	.	.	G	1.572	-0.533938	0.04082	.	.	ENSG00000111602	ENST00000229201;ENST00000553532	T;T	0.06142	3.34;3.34	5.26	-0.183	0.13284	.	0.863844	0.10705	N	0.643582	T	0.02418	0.0074	N	0.10809	0.05	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.47058	-0.9146	10	0.07990	T	0.79	3.7482	1.5957	0.02663	0.3236:0.2831:0.2797:0.1136	.	651	Q9UNS1	TIM_HUMAN	F	650;651	ENSP00000229201:S650F;ENSP00000450607:S651F	ENSP00000229201:S651F	S	-	2	0	TIMELESS	55103862	0.000000	0.05858	0.025000	0.17156	0.725000	0.41563	0.826000	0.27407	-0.247000	0.09597	0.561000	0.74099	TCT	TIMELESS	-	NULL		0.493	TIMELESS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TIMELESS	HGNC	protein_coding	OTTHUMT00000409771.1	G	NM_003920		56817595	-1	no_errors	ENST00000553532	ensembl	human	known	70_37	missense	SNP	0.040	A
TLCD1	116238	genome.wustl.edu	37	17	27051702	27051702	+	Silent	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr17:27051702G>A	ENST00000292090.3	-	4	680	c.570C>T	c.(568-570)ctC>ctT	p.L190L	AC010761.14_ENST00000587898.1_RNA|TLCD1_ENST00000394933.3_Silent_p.L143L|SNORD4A_ENST00000459174.1_RNA|AC010761.8_ENST00000582718.1_RNA|SNORD42A_ENST00000459584.1_RNA|SNORD4B_ENST00000459083.1_RNA	NM_138463.3	NP_612472.1	Q96CP7	TLCD1_HUMAN	TLC domain containing 1	190	TLC. {ECO:0000255|PROSITE- ProRule:PRU00205}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|endometrium(1)|kidney(2)|lung(2)	7	Lung NSC(42;0.00431)					AGAAATGGGTGAGGTAGGCCT	0.502																																																	0													124.0	99.0	108.0					17																	27051702		2203	4300	6503	SO:0001819	synonymous_variant	116238			BC014072	CCDS11242.1, CCDS54102.1	17q11.2	2007-03-23			ENSG00000160606	ENSG00000160606			25177	protein-coding gene	gene with protein product						12151215	Standard	NM_138463		Approved		uc002hco.3	Q96CP7	OTTHUMG00000132683	ENST00000292090.3:c.570C>T	17.37:g.27051702G>A			A8MYP9	Silent	SNP	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom	p.L190	ENST00000292090.3	37	c.570	CCDS11242.1	17																																																																																			TLCD1	-	pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom		0.502	TLCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLCD1	HGNC	protein_coding	OTTHUMT00000255973.1	G	NM_138463		27051702	-1	no_errors	ENST00000292090	ensembl	human	known	70_37	silent	SNP	1.000	A
TLN1	7094	genome.wustl.edu	37	9	35707158	35707158	+	Silent	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr9:35707158G>A	ENST00000314888.9	-	37	5219	c.4866C>T	c.(4864-4866)gtC>gtT	p.V1622V	TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Silent_p.V1622V	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1622	Interaction with SYNM.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCCGGGGATTGACTGCGAGGG	0.607																																																	0													53.0	62.0	59.0					9																	35707158		2203	4300	6503	SO:0001819	synonymous_variant	7094			AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.4866C>T	9.37:g.35707158G>A			A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Silent	SNP	pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ	p.V1622	ENST00000314888.9	37	c.4866	CCDS35009.1	9																																																																																			TLN1	-	superfamily_Vinculin/catenin		0.607	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLN1	HGNC	protein_coding	OTTHUMT00000052353.2	G	NM_006289		35707158	-1	no_errors	ENST00000314888	ensembl	human	known	70_37	silent	SNP	1.000	A
TMEM132D	121256	genome.wustl.edu	37	12	129558610	129558610	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr12:129558610G>A	ENST00000422113.2	-	9	3436	c.3110C>T	c.(3109-3111)tCc>tTc	p.S1037F	TMEM132D_ENST00000389441.4_Missense_Mutation_p.S575F	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	1037					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGAGGTAGGGGATGTTGGGGG	0.493																																																	0													112.0	117.0	115.0					12																	129558610		2203	4300	6503	SO:0001583	missense	121256			AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.3110C>T	12.37:g.129558610G>A	ENSP00000408581:p.Ser1037Phe		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	NULL	p.S1037F	ENST00000422113.2	37	c.3110	CCDS9266.1	12	.	.	.	.	.	.	.	.	.	.	G	21.4	4.141358	0.77775	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.14516	2.5;3.28	4.16	4.16	0.48862	.	0.000000	0.64402	D	0.000003	T	0.43523	0.1251	M	0.87180	2.865	0.58432	D	0.999997	D;D	0.89917	1.0;1.0	D;D	0.97110	0.997;1.0	T	0.53995	-0.8359	9	.	.	.	-34.6133	16.8313	0.85945	0.0:0.0:1.0:0.0	.	1037;575	Q14C87;Q14C87-2	T132D_HUMAN;.	F	575;1037	ENSP00000374092:S575F;ENSP00000408581:S1037F	.	S	-	2	0	TMEM132D	128124563	1.000000	0.71417	0.824000	0.32777	0.709000	0.40893	9.505000	0.97989	2.018000	0.59344	0.563000	0.77884	TCC	TMEM132D	-	NULL		0.493	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132D	HGNC	protein_coding	OTTHUMT00000399592.1	G	NM_133448		129558610	-1	no_errors	ENST00000422113	ensembl	human	known	70_37	missense	SNP	1.000	A
TMEM187	8269	genome.wustl.edu	37	X	153248290	153248290	+	Silent	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chrX:153248290G>A	ENST00000369982.4	+	2	1524	c.777G>A	c.(775-777)aaG>aaA	p.K259K	MIR3202-1_ENST00000580198.1_RNA	NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	259						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGGCGGGAAGACGCGTTGAA	0.527																																																	0													67.0	61.0	63.0					X																	153248290		2202	4299	6501	SO:0001819	synonymous_variant	8269			X92475	CCDS14739.1	Xq28	2007-03-14	2007-03-14	2007-03-14	ENSG00000177854	ENSG00000177854			13705	protein-coding gene	gene with protein product		300059	"""chromosome X open reading frame 12"""	CXorf12		8661027	Standard	NM_003492		Approved	ITBA1, DXS9878E	uc004fjq.2	Q14656	OTTHUMG00000024220	ENST00000369982.4:c.777G>A	X.37:g.153248290G>A			B2RC47|Q6IAV7	Silent	SNP	NULL	p.K259	ENST00000369982.4	37	c.777	CCDS14739.1	X																																																																																			TMEM187	-	NULL		0.527	TMEM187-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM187	HGNC	protein_coding	OTTHUMT00000061093.1	G	NM_003492		153248290	+1	no_errors	ENST00000369982	ensembl	human	known	70_37	silent	SNP	0.005	A
TMEM194A	23306	genome.wustl.edu	37	12	57464515	57464515	+	Silent	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr12:57464515G>A	ENST00000300128.4	-	3	437	c.414C>T	c.(412-414)acC>acT	p.T138T	TMEM194A_ENST00000553654.1_5'UTR|TMEM194A_ENST00000379391.3_Intron	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	138						integral component of membrane (GO:0016021)				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTTTGAGGCAGGTTTTTGTGC	0.388																																																	0													244.0	211.0	221.0					12																	57464515		692	1591	2283	SO:0001819	synonymous_variant	23306			AB006624	CCDS31841.1, CCDS44927.1	12q13.3	2008-06-10	2008-06-10	2008-06-10		ENSG00000166881			29001	protein-coding gene	gene with protein product			"""transmembrane protein 194"""	TMEM194			Standard	NM_015257		Approved	KIAA0286	uc001smy.3	O14524		ENST00000300128.4:c.414C>T	12.37:g.57464515G>A			Q17R72|Q68DH0|Q6IQ25	Silent	SNP	pfam_TMEM194	p.T138	ENST00000300128.4	37	c.414	CCDS44927.1	12																																																																																			TMEM194A	-	NULL		0.388	TMEM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM194A	HGNC	protein_coding	OTTHUMT00000411272.1	G	NM_015257		57464515	-1	no_errors	ENST00000300128	ensembl	human	known	70_37	silent	SNP	1.000	A
TMEM82	388595	genome.wustl.edu	37	1	16074126	16074126	+	Silent	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:16074126G>A	ENST00000375782.1	+	6	1169	c.1031G>A	c.(1030-1032)tGa>tAa	p.*344*	RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	0						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCCCTCTTGACCTGCCTCA	0.622																																																	0													68.0	70.0	69.0					1																	16074126		2203	4300	6503	SO:0001819	synonymous_variant	388595				CCDS30608.1	1p36.13	2008-02-05				ENSG00000162460			32350	protein-coding gene	gene with protein product							Standard	NM_001013641		Approved		uc001axc.4	A0PJX8		ENST00000375782.1:c.1031G>A	1.37:g.16074126G>A			B2RP27|Q5VVD4	Silent	SNP	NULL	p.*344	ENST00000375782.1	37	c.1031	CCDS30608.1	1																																																																																			TMEM82	-	NULL		0.622	TMEM82-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM82	HGNC	protein_coding	OTTHUMT00000008471.2	G	NM_001013641		16074126	+1	no_errors	ENST00000375782	ensembl	human	known	70_37	silent	SNP	0.972	A
TMLHE	55217	genome.wustl.edu	37	X	154754249	154754249	+	Missense_Mutation	SNP	G	G	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chrX:154754249G>T	ENST00000334398.3	-	3	371	c.226C>A	c.(226-228)Ctt>Att	p.L76I	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.L76I	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	76					carnitine biosynthetic process (GO:0045329)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of oxidoreductase activity (GO:0051354)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)|trimethyllysine dioxygenase activity (GO:0050353)			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	TGGTCTCGAAGCCAGACGTAA	0.423																																																	0													162.0	141.0	148.0					X																	154754249		2202	4300	6502	SO:0001583	missense	55217			AF373407, X97513	CCDS14768.1, CCDS55547.1	Xq28	2006-07-14			ENSG00000185973	ENSG00000185973			18308	protein-coding gene	gene with protein product	"""butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 2"""	300777				8908511, 11431483	Standard	NM_018196		Approved	TMLH, FLJ10727, BBOX2, XAP130	uc004fnn.3	Q9NVH6	OTTHUMG00000022674	ENST00000334398.3:c.226C>A	X.37:g.154754249G>T	ENSP00000335261:p.Leu76Ile		A8K6M9|B4E3R3|Q5TZB5|Q6IA90|Q8TBT0	Missense_Mutation	SNP	pfam_Taurine_dOase,pfam_DUF971,tigrfam_Trimethyllysine_dOase	p.L76I	ENST00000334398.3	37	c.226	CCDS14768.1	X	.	.	.	.	.	.	.	.	.	.	G	18.36	3.605937	0.66445	.	.	ENSG00000185973	ENST00000334398;ENST00000369439	D;D	0.95307	-3.67;-3.32	3.81	2.92	0.33932	Domain of unknown function, DUF971 (1);	0.000000	0.64402	D	0.000001	D	0.96592	0.8888	M	0.88105	2.93	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.998;0.999;0.998	D	0.95518	0.8592	10	0.87932	D	0	-11.7341	4.4379	0.11559	0.2799:0.0:0.7201:0.0	.	76;76;76	Q9NVH6-2;A8K6M9;Q9NVH6	.;.;TMLH_HUMAN	I	76	ENSP00000335261:L76I;ENSP00000358447:L76I	ENSP00000335261:L76I	L	-	1	0	TMLHE	154407443	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.264000	0.65513	1.834000	0.53371	0.513000	0.50165	CTT	TMLHE	-	pfam_DUF971,tigrfam_Trimethyllysine_dOase		0.423	TMLHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMLHE	HGNC	protein_coding	OTTHUMT00000058817.1	G	NM_018196		154754249	-1	no_errors	ENST00000334398	ensembl	human	known	70_37	missense	SNP	1.000	T
TMPO	7112	genome.wustl.edu	37	12	98931269	98931269	+	Silent	SNP	C	C	G			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr12:98931269C>G	ENST00000556029.1	+	4	938	c.582C>G	c.(580-582)ctC>ctG	p.L194L	TMPO_ENST00000261210.5_Silent_p.L194L|TMPO_ENST00000343315.5_Silent_p.L194L|TMPO_ENST00000393053.2_Silent_p.L194L	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin	194	NAKAP95-binding N.|Nucleoplasmic. {ECO:0000255}.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						AAATAGAGCTCAAGCTTGAGA	0.378																																																	0													81.0	76.0	78.0					12																	98931269		2203	4300	6503	SO:0001819	synonymous_variant	7112				CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.582C>G	12.37:g.98931269C>G			A2T926|Q14861	Silent	SNP	pfam_Thymopoietin_LEM,pfam_LEM,superfamily_LEM-like_dom,smart_LEM,pfscan_LEM,pfscan_Thymopoietin_LEM	p.L194	ENST00000556029.1	37	c.582	CCDS31879.1	12																																																																																			TMPO	-	NULL		0.378	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPO	HGNC	protein_coding	OTTHUMT00000407973.2	C	NM_003276		98931269	+1	no_errors	ENST00000556029	ensembl	human	known	70_37	silent	SNP	1.000	G
TNRC6B	23112	genome.wustl.edu	37	22	40662236	40662236	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr22:40662236G>A	ENST00000454349.2	+	5	2213	c.2002G>A	c.(2002-2004)Gat>Aat	p.D668N	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.D668N	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	668	Interaction with argonaute proteins.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|regulation of translation (GO:0006417)	cytosol (GO:0005829)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)	1						GGGCTGGGGAGATGCACCCAG	0.557																																																	0													18.0	21.0	20.0					22																	40662236		1922	4123	6045	SO:0001583	missense	23112			AB029016	CCDS46712.1, CCDS46713.1, CCDS54533.1	22q13	2006-08-22			ENSG00000100354	ENSG00000100354		"""Trinucleotide (CAG) repeat containing"""	29190	protein-coding gene	gene with protein product		610740					Standard	NM_015088		Approved	KIAA1093	uc011aor.2	Q9UPQ9	OTTHUMG00000151114	ENST00000454349.2:c.2002G>A	22.37:g.40662236G>A	ENSP00000401946:p.Asp668Asn		B0QY73|B0QY78|B4DGC0|Q5TH52|Q8TBX2	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.D668N	ENST00000454349.2	37	c.2002	CCDS54533.1	22	.	.	.	.	.	.	.	.	.	.	G	14.31	2.497565	0.44455	.	.	ENSG00000100354	ENST00000454349;ENST00000400140;ENST00000335727	T;T	0.14022	2.55;2.54	5.43	5.43	0.79202	.	0.048878	0.85682	D	0.000000	T	0.27559	0.0677	L	0.33245	0.995	0.45076	D	0.998091	D;D;D	0.69078	0.997;0.993;0.996	D;D;D	0.77557	0.98;0.977;0.99	T	0.01734	-1.1285	10	0.22109	T	0.4	-8.17	19.2242	0.93812	0.0:0.0:1.0:0.0	.	668;668;668	Q9UPQ9;A8MYY3;Q9UPQ9-1	TNR6B_HUMAN;.;.	N	668	ENSP00000401946:D668N;ENSP00000338371:D668N	ENSP00000338371:D668N	D	+	1	0	TNRC6B	38992182	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.315000	0.59172	2.559000	0.86315	0.313000	0.20887	GAT	TNRC6B	-	NULL		0.557	TNRC6B-202	KNOWN	basic|CCDS	protein_coding	TNRC6B	HGNC	protein_coding		G			40662236	+1	no_errors	ENST00000454349	ensembl	human	known	70_37	missense	SNP	1.000	A
NDUFB6	4712	genome.wustl.edu	37	9	32566511	32566511	+	Intron	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr9:32566511G>A	ENST00000379847.3	-	2	375				NDUFB6_ENST00000350021.2_Intron|TOPORS-AS1_ENST00000458036.1_RNA|TOPORS-AS1_ENST00000425533.1_RNA|GVQW1_ENST00000451672.1_5'Flank	NM_002493.4	NP_002484.1	O95139	NDUB6_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6, 17kDa						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain complex I (GO:0005747)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	8			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00199)		GGTGTGCAGAGACGGCTGCCA	0.582																																																	0																																										SO:0001627	intron_variant	100129250			AF035840	CCDS6528.1, CCDS6529.1, CCDS75826.1	9p13.2	2011-07-04	2002-08-29		ENSG00000165264	ENSG00000165264		"""Mitochondrial respiratory chain complex / Complex I"""	7701	protein-coding gene	gene with protein product	"""NADH-ubiquinone oxidoreductase beta subunit, 6"", ""NADH-ubiquinone oxidoreductase B17 subunit"", ""complex I, mitochondrial respiratory chain, B17 subunit"""	603322	"""NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 6 (17kD, B17)"""			9763677, 9760212	Standard	NM_002493		Approved	B17, CI	uc003zre.2	O95139	OTTHUMG00000019741	ENST00000379847.3:c.273+4446C>T	9.37:g.32566511G>A			A8K0Y7|Q5VYT2|Q6IB84	RNA	SNP	-	NULL	ENST00000379847.3	37	NULL	CCDS6528.1	9																																																																																			TOPORS-AS1	-	-		0.582	NDUFB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOPORS-AS1	HGNC	protein_coding	OTTHUMT00000052001.1	G	NM_002493		32566511	+1	no_errors	ENST00000425533	ensembl	human	known	70_37	rna	SNP	0.900	A
TPCN2	219931	genome.wustl.edu	37	11	68822655	68822655	+	Silent	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr11:68822655C>T	ENST00000294309.3	+	4	365	c.264C>T	c.(262-264)ttC>ttT	p.F88F	TPCN2_ENST00000542467.1_Silent_p.F88F|TPCN2_ENST00000442692.2_3'UTR	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	88					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|release of sequestered calcium ion into cytosol (GO:0051209)|smooth muscle contraction (GO:0006939)|transmembrane transport (GO:0055085)	endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|NAADP-sensitive calcium-release channel activity (GO:0072345)|protein kinase binding (GO:0019901)|voltage-gated calcium channel activity (GO:0005245)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTTTGAGCTTCACCATCTTCT	0.592																																																	0													217.0	194.0	202.0					11																	68822655		2200	4294	6494	SO:0001819	synonymous_variant	219931			AK023366	CCDS8189.1	11q13.1	2011-07-05			ENSG00000162341	ENSG00000162341		"""Voltage-gated ion channels / Two-pore channels"""	20820	protein-coding gene	gene with protein product		612163				16382101	Standard	NM_139075		Approved	TPC2	uc001oos.2	Q8NHX9	OTTHUMG00000167898	ENST00000294309.3:c.264C>T	11.37:g.68822655C>T			Q9NT82	Silent	SNP	pfam_Ion_trans_dom	p.F88	ENST00000294309.3	37	c.264	CCDS8189.1	11																																																																																			TPCN2	-	NULL		0.592	TPCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPCN2	HGNC	protein_coding	OTTHUMT00000396878.2	C	NM_139075		68822655	+1	no_errors	ENST00000294309	ensembl	human	known	70_37	silent	SNP	0.015	T
TPD52L2	7165	genome.wustl.edu	37	20	62514094	62514094	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr20:62514094C>T	ENST00000346249.4	+	5	473	c.397C>T	c.(397-399)Ctt>Ttt	p.L133F	TPD52L2_ENST00000351424.4_Missense_Mutation_p.L113F|TPD52L2_ENST00000358548.4_Missense_Mutation_p.L113F|TPD52L2_ENST00000217121.5_Missense_Mutation_p.L133F|TPD52L2_ENST00000369927.4_Missense_Mutation_p.L90F|TPD52L2_ENST00000352482.4_Missense_Mutation_p.L133F|TPD52L2_ENST00000348257.5_Missense_Mutation_p.L113F	NM_001243891.1|NM_003288.3	NP_001230820.1|NP_003279.2	O43399	TPD54_HUMAN	tumor protein D52-like 2	133					regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					TCAGGAAACTCTTTCACAGGC	0.537																																																	0													96.0	80.0	85.0					20																	62514094		2203	4300	6503	SO:0001583	missense	7165			AF004430	CCDS13540.1, CCDS13541.1, CCDS13542.1, CCDS13543.1, CCDS13544.1, CCDS13545.1, CCDS58785.1, CCDS74752.1, CCDS74753.1	20q13.2-q13.3	2007-12-19			ENSG00000101150	ENSG00000101150			12007	protein-coding gene	gene with protein product		603747				9484778	Standard	NM_199360		Approved	D54, hD54	uc002ygy.3	O43399	OTTHUMG00000033009	ENST00000346249.4:c.397C>T	20.37:g.62514094C>T	ENSP00000343547:p.Leu133Phe		B4DPJ6|E1P5G7|O43398|Q5JWU5|Q5JWU6|Q5JWU8|Q5U0E0|Q9H3Z6	Missense_Mutation	SNP	pfam_TPD52	p.L133F	ENST00000346249.4	37	c.397	CCDS13540.1	20	.	.	.	.	.	.	.	.	.	.	C	15.46	2.840826	0.51057	.	.	ENSG00000101150	ENST00000369927;ENST00000346249;ENST00000348257;ENST00000352482;ENST00000351424;ENST00000217121;ENST00000358548	T;T;T;T;T;T;T	0.55760	0.72;0.89;0.59;0.5;0.75;0.7;0.9	5.15	4.2	0.49525	.	0.138505	0.49916	N	0.000130	T	0.71476	0.3344	M	0.78916	2.43	0.44685	D	0.997678	P;P;P;P;P;D;D;D;P	0.89917	0.924;0.739;0.584;0.584;0.584;0.999;1.0;1.0;0.739	P;P;P;P;P;D;D;D;B	0.97110	0.734;0.614;0.46;0.46;0.46;0.983;0.999;1.0;0.398	T	0.74734	-0.3565	10	0.62326	D	0.03	-8.6774	12.8771	0.57996	0.0:0.9212:0.0:0.0788	.	90;84;133;113;133;113;113;133;133	B4DPJ6;B4DDV4;Q6FGS1;Q68E05;O43399;O43399-4;O43399-3;Q5U0E0;Q5JWU6	.;.;.;.;TPD54_HUMAN;.;.;.;.	F	90;133;113;133;113;133;113	ENSP00000358943:L90F;ENSP00000343547:L133F;ENSP00000343554:L113F;ENSP00000344647:L133F;ENSP00000340006:L113F;ENSP00000217121:L133F;ENSP00000351350:L113F	ENSP00000217121:L133F	L	+	1	0	TPD52L2	61984538	0.983000	0.35010	0.066000	0.19879	0.287000	0.27160	2.652000	0.46682	1.168000	0.42723	0.561000	0.74099	CTT	TPD52L2	-	pfam_TPD52		0.537	TPD52L2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPD52L2	HGNC	protein_coding	OTTHUMT00000080248.1	C			62514094	+1	no_errors	ENST00000217121	ensembl	human	known	70_37	missense	SNP	0.961	T
TPST2	8459	genome.wustl.edu	37	22	26936758	26936758	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr22:26936758G>A	ENST00000338754.4	-	3	1109	c.839C>T	c.(838-840)tCc>tTc	p.S280F	TPST2_ENST00000398110.2_Missense_Mutation_p.S280F|TPST2_ENST00000403880.1_Missense_Mutation_p.S280F	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	280					fusion of sperm to egg plasma membrane (GO:0007342)|peptidyl-tyrosine sulfation (GO:0006478)|prevention of polyspermy (GO:0060468)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	protein-tyrosine sulfotransferase activity (GO:0008476)			central_nervous_system(1)|large_intestine(1)|lung(5)	7						CACTCACTTGGACAGGGAGAC	0.597																																																	0													33.0	35.0	35.0					22																	26936758		2203	4300	6503	SO:0001583	missense	8459			AF049891	CCDS13839.1	22q12.1	2012-12-13			ENSG00000128294	ENSG00000128294	2.8.2.20	"""Sulfotransferases, membrane-bound"""	12021	protein-coding gene	gene with protein product	"""transport and golgi organization 13 homolog B (Drosophila)"""	603126				9736702, 9733778	Standard	NM_003595		Approved	TANGO13B	uc003acx.3	O60704	OTTHUMG00000150987	ENST00000338754.4:c.839C>T	22.37:g.26936758G>A	ENSP00000339813:p.Ser280Phe		B3KQA7|Q6FI98|Q9H0V4	Missense_Mutation	SNP	pfam_Sulfotransferase_dom	p.S280F	ENST00000338754.4	37	c.839	CCDS13839.1	22	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468147	0.84533	.	.	ENSG00000128294	ENST00000338754;ENST00000398110;ENST00000403880;ENST00000528868;ENST00000445720	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.19	5.19	0.71726	.	0.000000	0.64402	D	0.000001	T	0.73426	0.3585	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.78396	-0.2220	10	0.62326	D	0.03	.	17.7308	0.88377	0.0:0.0:1.0:0.0	.	280	O60704	TPST2_HUMAN	F	280;280;280;213;27	ENSP00000339813:S280F;ENSP00000381180:S280F;ENSP00000385192:S280F;ENSP00000403758:S27F	ENSP00000339813:S280F	S	-	2	0	TPST2	25266758	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	9.119000	0.94362	2.430000	0.82344	0.609000	0.83330	TCC	TPST2	-	NULL		0.597	TPST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPST2	HGNC	protein_coding	OTTHUMT00000320820.3	G	NM_003595		26936758	-1	no_errors	ENST00000338754	ensembl	human	known	70_37	missense	SNP	1.000	A
TPT1-AS1	100190939	genome.wustl.edu	37	13	45953898	45953898	+	RNA	SNP	C	C	G			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr13:45953898C>G	ENST00000521336.1	+	0	1518				TPT1-AS1_ENST00000522673.1_RNA|TPT1-AS1_ENST00000521507.1_RNA|TPT1-AS1_ENST00000517509.1_RNA|TPT1-AS1_ENST00000520310.1_RNA|TPT1-AS1_ENST00000519454.1_RNA|TPT1-AS1_ENST00000520590.1_RNA|TPT1-AS1_ENST00000520585.1_RNA|TPT1-AS1_ENST00000522845.2_RNA|TPT1-AS1_ENST00000523445.1_RNA|TPT1-AS1_ENST00000523506.1_RNA|TPT1-AS1_ENST00000520622.1_RNA					TPT1 antisense RNA 1																		tttgtgacctcatacaaaggc	0.512																																																	0																																												100190939			AF318337		13q14.13	2012-10-12	2012-08-15		ENSG00000170919	ENSG00000170919		"""Long non-coding RNAs"""	43686	non-coding RNA	RNA, long non-coding			"""TPT1 antisense RNA 1 (non-protein coding)"""				Standard	NR_024458		Approved		uc021rjh.1		OTTHUMG00000016851		13.37:g.45953898C>G				RNA	SNP	-	NULL	ENST00000521336.1	37	NULL		13																																																																																			TPT1-AS1	-	-		0.512	TPT1-AS1-019	KNOWN	basic|exp_conf	antisense	TPT1-AS1	HGNC	antisense	OTTHUMT00000374924.1	C	NR_024458		45953898	+1	no_errors	ENST00000405697	ensembl	human	known	70_37	rna	SNP	0.056	G
TRAF3IP3	80342	genome.wustl.edu	37	1	209953918	209953918	+	Silent	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:209953918G>A	ENST00000367024.1	+	15	1932	c.1416G>A	c.(1414-1416)aaG>aaA	p.K472K	TRAF3IP3_ENST00000010338.4_Silent_p.K452K|TRAF3IP3_ENST00000367025.3_Silent_p.K472K|TRAF3IP3_ENST00000477431.1_Intron|TRAF3IP3_ENST00000367026.3_Silent_p.K452K			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	472						integral component of membrane (GO:0016021)				breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		AGCTGCAAAAGAAGACTTTGC	0.532																																																	0													81.0	83.0	82.0					1																	209953918		2203	4300	6503	SO:0001819	synonymous_variant	80342				CCDS1490.1, CCDS1490.2, CCDS73023.1	1q32.3-q41	2008-02-05			ENSG00000009790	ENSG00000009790			30766	protein-coding gene	gene with protein product	"""TRAF3 interacting Jun N terminal kinase (JNK) activating modulator"""	608255				14572659	Standard	XR_247044		Approved	T3JAM	uc001hho.3	Q9Y228	OTTHUMG00000036480	ENST00000367024.1:c.1416G>A	1.37:g.209953918G>A			A1L464|A6NIU9|Q2YDB5|Q4VY06|Q7Z706	Silent	SNP	NULL	p.K472	ENST00000367024.1	37	c.1416	CCDS1490.2	1																																																																																			TRAF3IP3	-	NULL		0.532	TRAF3IP3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRAF3IP3	HGNC	protein_coding	OTTHUMT00000088734.2	G			209953918	+1	no_errors	ENST00000367024	ensembl	human	known	70_37	silent	SNP	1.000	A
TRMT2B	79979	genome.wustl.edu	37	X	100275544	100275544	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chrX:100275544G>A	ENST00000372936.3	-	11	1872	c.1100C>T	c.(1099-1101)tCt>tTt	p.S367F	TRMT2B_ENST00000372935.1_Missense_Mutation_p.S367F|TRMT2B_ENST00000372939.1_Missense_Mutation_p.S322F|TRMT2B_ENST00000338687.7_Missense_Mutation_p.S322F|TRMT2B_ENST00000372931.5_Missense_Mutation_p.S367F|TRMT2B_ENST00000545398.1_Missense_Mutation_p.S367F	NM_024917.5	NP_079193.2	Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	367						mitochondrion (GO:0005739)	S-adenosylmethionine-dependent tRNA (m5U54) methyltransferase activity (GO:0030697)			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						AAGGACCCGAGATGTATGCTG	0.448																																																	0													164.0	136.0	145.0					X																	100275544		2203	4300	6503	SO:0001583	missense	79979			BC020116	CCDS14477.1, CCDS55464.1	Xq22.1	2012-06-12	2012-06-12	2008-09-17	ENSG00000188917	ENSG00000188917			25748	protein-coding gene	gene with protein product			"""chromosome X open reading frame 34"""	CXorf34		14702039	Standard	NM_024917		Approved	FLJ12687	uc004egq.3	Q96GJ1	OTTHUMG00000022017	ENST00000372936.3:c.1100C>T	X.37:g.100275544G>A	ENSP00000362027:p.Ser367Phe		A6NDG5|A6NEI9|A6NMG6|Q5JPF0|Q5JVY6|Q96HU7|Q96IH9|Q9H9K2	Missense_Mutation	SNP	pfam_U5_MeTrfase,pfam_Small_mtfrase_dom	p.S367F	ENST00000372936.3	37	c.1100	CCDS14477.1	X	.	.	.	.	.	.	.	.	.	.	G	12.43	1.935402	0.34189	.	.	ENSG00000188917	ENST00000338687;ENST00000545398;ENST00000372939;ENST00000372935;ENST00000372936;ENST00000372931	T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9	4.57	4.57	0.56435	.	0.546626	0.19127	N	0.122029	T	0.43233	0.1238	L	0.61218	1.895	0.09310	N	1	D;D;D	0.67145	0.996;0.995;0.995	D;D;D	0.64776	0.929;0.926;0.926	T	0.23797	-1.0178	10	0.66056	D	0.02	-12.0462	9.5969	0.39580	0.0:0.0:0.7912:0.2088	.	322;367;367	Q96GJ1-3;F2Z384;Q96GJ1	.;.;TRM2_HUMAN	F	322;367;322;367;367;367	ENSP00000340970:S322F;ENSP00000438134:S367F;ENSP00000362030:S322F;ENSP00000362026:S367F;ENSP00000362027:S367F;ENSP00000362022:S367F	ENSP00000340970:S322F	S	-	2	0	TRMT2B	100162200	0.269000	0.24143	0.008000	0.14137	0.401000	0.30781	2.444000	0.44890	2.005000	0.58758	0.600000	0.82982	TCT	TRMT2B	-	pfam_U5_MeTrfase,pfam_Small_mtfrase_dom		0.448	TRMT2B-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	TRMT2B	HGNC	protein_coding	OTTHUMT00000057512.1	G	NM_024917		100275544	-1	no_errors	ENST00000372935	ensembl	human	known	70_37	missense	SNP	0.003	A
TRPS1	7227	genome.wustl.edu	37	8	116616305	116616305	+	Nonsense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr8:116616305G>A	ENST00000220888.5	-	3	2011	c.1852C>T	c.(1852-1854)Cag>Tag	p.Q618*	TRPS1_ENST00000520276.1_Nonsense_Mutation_p.Q622*|TRPS1_ENST00000395715.3_Nonsense_Mutation_p.Q631*|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000519674.1_Nonsense_Mutation_p.Q618*			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	618					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			AATGAACACTGATGGCACTGA	0.478									Langer-Giedion syndrome																																								0													78.0	77.0	77.0					8																	116616305		2052	4198	6250	SO:0001587	stop_gained	7227	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1852C>T	8.37:g.116616305G>A	ENSP00000220888:p.Gln618*		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Nonsense_Mutation	SNP	pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.Q631*	ENST00000220888.5	37	c.1891		8	.	.	.	.	.	.	.	.	.	.	G	39	7.905295	0.98554	.	.	ENSG00000104447	ENST00000395715;ENST00000220888;ENST00000520276;ENST00000519674	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	.	.	.	X	631;618;622;618	.	ENSP00000220888:Q618X	Q	-	1	0	TRPS1	116685480	1.000000	0.71417	1.000000	0.80357	0.855000	0.48748	9.386000	0.97228	2.941000	0.99782	0.655000	0.94253	CAG	TRPS1	-	smart_Znf_C2H2-like		0.478	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	HGNC	protein_coding	OTTHUMT00000286436.3	G	NM_014112		116616305	-1	no_errors	ENST00000395715	ensembl	human	known	70_37	nonsense	SNP	1.000	A
TRPS1	7227	genome.wustl.edu	37	8	116616497	116616498	+	Missense_Mutation	DNP	GG	GG	AA			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr8:116616497_116616498GG>AA	ENST00000220888.5	-	3	1818_1819	c.1659_1660CC>TT	c.(1657-1662)ctCCat>ctTTat	p.H554Y	TRPS1_ENST00000520276.1_Missense_Mutation_p.H558Y|TRPS1_ENST00000395715.3_Missense_Mutation_p.H567Y|TRPS1_ENST00000519076.1_Intron|TRPS1_ENST00000519674.1_Missense_Mutation_p.H554Y			Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	554					chondrocyte differentiation (GO:0002062)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|regulation of chondrocyte differentiation (GO:0032330)|regulation of histone deacetylation (GO:0031063)|skeletal system development (GO:0001501)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TGAATGTTATGGAGCTGTTGAT	0.436									Langer-Giedion syndrome																																								0																																										SO:0001583	missense	7227	Familial Cancer Database	Trichorhinophalangeal syndrome type 2, TRPS II	AF183810	CCDS6318.2, CCDS64957.1	8q23.3	2014-06-23			ENSG00000104447	ENSG00000104447		"""GATA zinc finger domain containing"", ""Zinc fingers, C2H2-type"""	12340	protein-coding gene	gene with protein product		604386				8530105, 10615131, 10647898	Standard	NM_001282903		Approved	LGCR	uc003yny.3	Q9UHF7	OTTHUMG00000142829	ENST00000220888.5:c.1659_1660delinsAA	8.37:g.116616497_116616498delinsAA	ENSP00000220888:p.His554Tyr		B4E1Z5|Q08AU2|Q9NWE1|Q9UHH6	Missense_Mutation|Silent	SNP	pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA	p.H567Y|p.L566	ENST00000220888.5	37	c.1699|c.1698		8																																																																																			TRPS1	-	smart_Znf_C2H2-like		0.436	TRPS1-002	KNOWN	basic	protein_coding	TRPS1	HGNC	protein_coding	OTTHUMT00000286436.3	G	NM_014112		116616497|116616498	-1	no_errors	ENST00000395715	ensembl	human	known	70_37	missense|silent	SNP	1.000	A
GNPTG	84572	genome.wustl.edu	37	16	1400941	1400941	+	5'Flank	SNP	C	C	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr16:1400941C>A	ENST00000204679.4	+	0	0				TSR3_ENST00000007390.2_Missense_Mutation_p.E131D	NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit						carbohydrate phosphorylation (GO:0046835)|N-glycan processing to lysosome (GO:0016256)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)	protein homodimerization activity (GO:0042803)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				CAAACGGTGTCTCGTCCAGCC	0.637																																																	0													69.0	65.0	67.0					16																	1400941		2196	4300	6496	SO:0001631	upstream_gene_variant	115939			BC014592	CCDS10436.1	16p13.3	2009-04-17		2004-10-01	ENSG00000090581	ENSG00000090581			23026	protein-coding gene	gene with protein product	"""GlcNAc-phosphotransferase gamma-subunit"""	607838	"""N-acetylglucosamine-1-phosphotransferase, gamma subunit"", ""chromosome 16 open reading frame 27"""	GNPTAG, C16orf27		10712439	Standard	NM_032520		Approved	CAB56184, c316G12.3	uc002clm.3	Q9UJJ9	OTTHUMG00000047835		16.37:g.1400941C>A	Exception_encountered		B2R556|Q6XYD7|Q96L13	Missense_Mutation	SNP	pfam_DUF367,pfam_RNaseL-inhib_metal-bd_dom	p.E131D	ENST00000204679.4	37	c.393	CCDS10436.1	16	.	.	.	.	.	.	.	.	.	.	C	12.06	1.823603	0.32237	.	.	ENSG00000007520	ENST00000007390	.	.	.	5.47	2.29	0.28610	Domain of unknown function DUF367 (2);	0.141337	0.64402	N	0.000006	T	0.51126	0.1656	L	0.46670	1.46	0.44652	D	0.997637	B	0.24368	0.102	B	0.37304	0.246	T	0.44651	-0.9314	9	0.41790	T	0.15	-22.2399	6.237	0.20768	0.0:0.5506:0.2926:0.1568	.	131	Q9UJK0	TSR3_HUMAN	D	131	.	ENSP00000007390:E131D	E	-	3	2	C16orf42	1340942	0.832000	0.29368	0.728000	0.30774	0.203000	0.24098	-0.046000	0.11983	0.611000	0.30052	0.561000	0.74099	GAG	TSR3	-	pfam_DUF367		0.637	GNPTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSR3	HGNC	protein_coding	OTTHUMT00000109058.2	C	NM_032520		1400941	-1	no_errors	ENST00000007390	ensembl	human	known	70_37	missense	SNP	1.000	A
TTC28	23331	genome.wustl.edu	37	22	28397377	28397377	+	Silent	SNP	G	G	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr22:28397377G>T	ENST00000397906.2	-	15	4524	c.4383C>A	c.(4381-4383)ctC>ctA	p.L1461L	TTC28-AS1_ENST00000454741.1_RNA|TTC28-AS1_ENST00000433317.1_RNA|TTC28-AS1_ENST00000417497.1_RNA|TTC28-AS1_ENST00000426594.1_RNA|TTC28-AS1_ENST00000452612.1_RNA|TTC28-AS1_ENST00000428584.1_RNA	NM_001145418.1	NP_001138890.1	Q96AY4	TTC28_HUMAN	tetratricopeptide repeat domain 28	1461					mitotic nuclear division (GO:0007067)|regulation of mitotic cell cycle (GO:0007346)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)				endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)	12						ACTGCACGCTGAGGGAGCGGA	0.597																																																	0													52.0	55.0	54.0					22																	28397377		692	1591	2283	SO:0001819	synonymous_variant	23331			AB028966	CCDS46678.1	22q12.1	2013-01-10			ENSG00000100154	ENSG00000100154		"""Tetratricopeptide (TTC) repeat domain containing"""	29179	protein-coding gene	gene with protein product		615098				10470851	Standard	NM_001145418		Approved	KIAA1043	uc003adp.4	Q96AY4	OTTHUMG00000151006	ENST00000397906.2:c.4383C>A	22.37:g.28397377G>T			K7ZRV2|O95928|O95929|Q5W189|Q9NTE4|Q9UG31|Q9UGG5|Q9UPV8|Q9Y3S5	Silent	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L1461	ENST00000397906.2	37	c.4383	CCDS46678.1	22																																																																																			TTC28	-	NULL		0.597	TTC28-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	TTC28	HGNC	protein_coding	OTTHUMT00000320930.2	G	XM_929318		28397377	-1	no_errors	ENST00000397906	ensembl	human	novel	70_37	silent	SNP	0.001	T
TXNDC2	84203	genome.wustl.edu	37	18	9886715	9886715	+	Missense_Mutation	SNP	C	C	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr18:9886715C>A	ENST00000306084.6	+	2	438	c.239C>A	c.(238-240)tCt>tAt	p.S80Y	TXNDC2_ENST00000536353.2_Missense_Mutation_p.S13Y|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000357775.5_Missense_Mutation_p.S13Y	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	80					cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						ACAGAGGAGTCTGATGCCTCA	0.567																																																	0													140.0	95.0	111.0					18																	9886715		2203	4300	6503	SO:0001583	missense	84203			AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.239C>A	18.37:g.9886715C>A	ENSP00000304908:p.Ser80Tyr		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold	p.S80Y	ENST00000306084.6	37	c.239	CCDS42414.1	18	.	.	.	.	.	.	.	.	.	.	C	13.66	2.302132	0.40694	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T;T	0.32515	1.45;2.82;2.24	3.19	1.38	0.22167	.	0.722709	0.11438	N	0.564084	T	0.40498	0.1119	L	0.49126	1.545	0.09310	N	1	D	0.55172	0.97	P	0.59424	0.857	T	0.16424	-1.0403	9	.	.	.	-3.0741	7.0368	0.24998	0.0:0.7608:0.0:0.2392	.	80	Q86VQ3	TXND2_HUMAN	Y	13;13;80;80	ENSP00000437393:S13Y;ENSP00000350419:S13Y;ENSP00000304908:S80Y	.	S	+	2	0	TXNDC2	9876715	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	0.299000	0.19138	0.396000	0.25283	0.563000	0.77884	TCT	TXNDC2	-	NULL		0.567	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TXNDC2	HGNC	protein_coding	OTTHUMT00000254487.1	C			9886715	+1	no_errors	ENST00000306084	ensembl	human	known	70_37	missense	SNP	0.001	A
TXNDC2	84203	genome.wustl.edu	37	18	9886724	9886724	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr18:9886724C>T	ENST00000306084.6	+	2	447	c.248C>T	c.(247-249)tCa>tTa	p.S83L	TXNDC2_ENST00000536353.2_Missense_Mutation_p.S16L|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000357775.5_Missense_Mutation_p.S16L	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	83					cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						TCTGATGCCTCACAGGAGGGC	0.567																																																	0													148.0	99.0	115.0					18																	9886724		2203	4300	6503	SO:0001583	missense	84203			AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.248C>T	18.37:g.9886724C>T	ENSP00000304908:p.Ser83Leu		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold	p.S83L	ENST00000306084.6	37	c.248	CCDS42414.1	18	.	.	.	.	.	.	.	.	.	.	C	5.681	0.310164	0.10733	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T;T	0.17054	2.3;3.64;3.53	3.15	0.23	0.15372	.	1.400500	0.05198	N	0.504451	T	0.11281	0.0275	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.33854	-0.9852	9	.	.	.	-0.0406	2.7472	0.05271	0.2056:0.4115:0.0:0.3829	.	83	Q86VQ3	TXND2_HUMAN	L	16;16;83;83	ENSP00000437393:S16L;ENSP00000350419:S16L;ENSP00000304908:S83L	.	S	+	2	0	TXNDC2	9876724	0.000000	0.05858	0.001000	0.08648	0.013000	0.08279	-0.979000	0.03774	0.047000	0.15862	0.558000	0.71614	TCA	TXNDC2	-	NULL		0.567	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TXNDC2	HGNC	protein_coding	OTTHUMT00000254487.1	C			9886724	+1	no_errors	ENST00000306084	ensembl	human	known	70_37	missense	SNP	0.001	T
TXNDC2	84203	genome.wustl.edu	37	18	9886754	9886754	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr18:9886754C>T	ENST00000306084.6	+	2	477	c.278C>T	c.(277-279)tCa>tTa	p.S93L	TXNDC2_ENST00000536353.2_Missense_Mutation_p.S26L|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000357775.5_Missense_Mutation_p.S26L	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	93					cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCCAAGTCCTCAGCAAACACC	0.577																																																	0													170.0	108.0	129.0					18																	9886754		2203	4300	6503	SO:0001583	missense	84203			AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.278C>T	18.37:g.9886754C>T	ENSP00000304908:p.Ser93Leu		A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Missense_Mutation	SNP	pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold	p.S93L	ENST00000306084.6	37	c.278	CCDS42414.1	18	.	.	.	.	.	.	.	.	.	.	c	8.102	0.776836	0.16120	.	.	ENSG00000168454	ENST00000536353;ENST00000357775;ENST00000306084;ENST00000426718	T;T;T	0.21734	1.99;2.33;2.33	3.09	2.2	0.27929	.	2.127950	0.02744	N	0.116637	T	0.19087	0.0458	L	0.39245	1.2	0.19300	N	0.999973	B	0.24258	0.1	B	0.26094	0.066	T	0.21518	-1.0243	9	.	.	.	-2.2257	4.5423	0.12064	0.0:0.6398:0.2302:0.1301	.	93	Q86VQ3	TXND2_HUMAN	L	26;26;93;93	ENSP00000437393:S26L;ENSP00000350419:S26L;ENSP00000304908:S93L	.	S	+	2	0	TXNDC2	9876754	0.023000	0.18921	0.007000	0.13788	0.009000	0.06853	0.810000	0.27183	0.864000	0.35578	0.650000	0.86243	TCA	TXNDC2	-	pfam_Glutenin		0.577	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TXNDC2	HGNC	protein_coding	OTTHUMT00000254487.1	C			9886754	+1	no_errors	ENST00000306084	ensembl	human	known	70_37	missense	SNP	0.005	T
UNC5D	137970	genome.wustl.edu	37	8	35542126	35542126	+	Missense_Mutation	SNP	G	G	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr8:35542126G>C	ENST00000404895.2	+	6	1106	c.778G>C	c.(778-780)Gag>Cag	p.E260Q	UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000416672.1_Missense_Mutation_p.E260Q|UNC5D_ENST00000453357.2_Missense_Mutation_p.E255Q|UNC5D_ENST00000420357.1_Intron	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	260	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)				NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TTCCTGGACAGAGTGGTCAGC	0.527																																																	0													122.0	114.0	117.0					8																	35542126		2203	4300	6503	SO:0001583	missense	137970			AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.778G>C	8.37:g.35542126G>C	ENSP00000385143:p.Glu260Gln		Q8WYP7	Missense_Mutation	SNP	pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like	p.E260Q	ENST00000404895.2	37	c.778	CCDS6093.2	8	.	.	.	.	.	.	.	.	.	.	G	19.35	3.810832	0.70797	.	.	ENSG00000156687	ENST00000404895;ENST00000416672;ENST00000453357	T;T;T	0.58358	0.34;0.34;0.34	5.06	5.06	0.68205	.	0.145951	0.64402	D	0.000010	T	0.52370	0.1730	L	0.56124	1.755	0.80722	D	1	B;P;P	0.39480	0.408;0.675;0.549	B;B;B	0.39258	0.184;0.295;0.255	T	0.54384	-0.8302	10	0.40728	T	0.16	-20.8352	18.8209	0.92097	0.0:0.0:1.0:0.0	.	260;255;260	C9J2B6;Q6UXZ4-2;Q6UXZ4	.;.;UNC5D_HUMAN	Q	260;260;255	ENSP00000385143:E260Q;ENSP00000412652:E260Q;ENSP00000394303:E255Q	ENSP00000385143:E260Q	E	+	1	0	UNC5D	35661668	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.520000	0.84964	0.655000	0.94253	GAG	UNC5D	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.527	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC5D	HGNC	protein_coding	OTTHUMT00000347586.2	G			35542126	+1	no_errors	ENST00000404895	ensembl	human	known	70_37	missense	SNP	1.000	C
WAPAL	23063	genome.wustl.edu	37	10	88213057	88213057	+	Missense_Mutation	SNP	G	G	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr10:88213057G>C	ENST00000298767.5	-	14	3341	c.2869C>G	c.(2869-2871)Ctc>Gtc	p.L957V	WAPAL_ENST00000372075.1_Missense_Mutation_p.L224V|WAPAL_ENST00000263070.7_Missense_Mutation_p.L224V	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	957	WAPL. {ECO:0000255|PROSITE- ProRule:PRU00603}.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)				breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						GTGCCTATGAGACCGTCCTGC	0.433																																																	0													138.0	130.0	133.0					10																	88213057		2203	4300	6503	SO:0001583	missense	23063			AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.2869C>G	10.37:g.88213057G>C	ENSP00000298767:p.Leu957Val		A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	pfam_WAPL_prot,superfamily_ARM-type_fold	p.L1042V	ENST00000298767.5	37	c.3124	CCDS7375.1	10	.	.	.	.	.	.	.	.	.	.	G	13.34	2.209124	0.39003	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076;ENST00000372075;ENST00000263070	T	0.50548	0.74	5.91	2.68	0.31781	Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.46288	0.1385	L	0.31804	0.96	0.47123	D	0.999327	P;D;P;B	0.63880	0.951;0.993;0.951;0.031	P;P;P;B	0.61874	0.755;0.895;0.755;0.043	T	0.31475	-0.9942	10	0.32370	T	0.25	.	5.8936	0.18927	0.1765:0.2059:0.6176:0.0	.	951;995;957;994	B2RTX8;E9PH12;Q7Z5K2;Q7Z5K2-2	.;.;WAPL_HUMAN;.	V	1042;957;1042;224;224	ENSP00000298767:L957V	ENSP00000263070:L224V	L	-	1	0	WAPAL	88203037	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	3.152000	0.50677	0.658000	0.30925	0.655000	0.94253	CTC	WAPAL	-	pfam_WAPL_prot,superfamily_ARM-type_fold		0.433	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WAPAL	HGNC	protein_coding	OTTHUMT00000049151.2	G	NM_015045		88213057	-1	no_errors	ENST00000342368	ensembl	human	known	70_37	missense	SNP	1.000	C
WASF2	10163	genome.wustl.edu	37	1	27734742	27734742	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:27734742C>T	ENST00000430629.2	-	9	1653	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K	WASF2_ENST00000536657.1_3'UTR	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	480					actin cytoskeleton organization (GO:0030036)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of lamellipodium assembly (GO:0010592)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|lamellipodium (GO:0030027)|SCAR complex (GO:0031209)	actin binding (GO:0003779)|protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TCACTGTACTCAACAGCAATG	0.512																																																	0													142.0	124.0	130.0					1																	27734742		2203	4300	6503	SO:0001583	missense	10163			AB026542	CCDS304.1, CCDS55582.1	1p36.11	2011-05-10			ENSG00000158195	ENSG00000158195			12733	protein-coding gene	gene with protein product		605875				10381382	Standard	NM_006990		Approved	WAVE2, SCAR2	uc001bof.2	Q9Y6W5	OTTHUMG00000003393	ENST00000430629.2:c.1438G>A	1.37:g.27734742C>T	ENSP00000396211:p.Glu480Lys		B4DZN0|O60794|Q9UDY7	Missense_Mutation	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.E480K	ENST00000430629.2	37	c.1438	CCDS304.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.953355	0.97139	.	.	ENSG00000158195	ENST00000430629	T	0.55760	0.5	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.76898	0.4052	M	0.85197	2.74	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.80013	-0.1560	10	0.87932	D	0	-13.1404	19.422	0.94726	0.0:1.0:0.0:0.0	.	480	Q9Y6W5	WASF2_HUMAN	K	480	ENSP00000396211:E480K	ENSP00000396211:E480K	E	-	1	0	WASF2	27607329	1.000000	0.71417	0.995000	0.50966	0.996000	0.88848	7.487000	0.81328	2.684000	0.91462	0.655000	0.94253	GAG	WASF2	-	NULL		0.512	WASF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF2	HGNC	protein_coding	OTTHUMT00000009516.1	C	NM_006990		27734742	-1	no_errors	ENST00000430629	ensembl	human	known	70_37	missense	SNP	1.000	T
WDR81	124997	genome.wustl.edu	37	17	1629218	1629218	+	Missense_Mutation	SNP	A	A	G			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr17:1629218A>G	ENST00000409644.1	+	1	965	c.965A>G	c.(964-966)gAt>gGt	p.D322G	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000437219.2_Intron|WDR81_ENST00000419248.1_Intron|WDR81_ENST00000309182.5_Intron	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	322					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GTGGCAAGGGATGAGGCGGGC	0.612																																																	0													59.0	56.0	57.0					17																	1629218		692	1591	2283	SO:0001583	missense	124997			AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.965A>G	17.37:g.1629218A>G	ENSP00000386609:p.Asp322Gly		B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Kinase-like_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D322G	ENST00000409644.1	37	c.965	CCDS54062.1	17	.	.	.	.	.	.	.	.	.	.	A	11.21	1.572811	0.28092	.	.	ENSG00000167716	ENST00000409644	T	0.51325	0.71	5.93	-4.21	0.03812	.	.	.	.	.	T	0.32941	0.0846	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36432	-0.9748	6	0.22706	T	0.39	.	9.2521	0.37562	0.332:0.4979:0.1701:0.0	.	.	.	.	G	322	ENSP00000386609:D322G	ENSP00000386609:D322G	D	+	2	0	WDR81	1575968	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.554000	0.23407	-0.718000	0.04949	-0.400000	0.06385	GAT	WDR81	-	NULL		0.612	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR81	HGNC	protein_coding	OTTHUMT00000333118.2	A	NM_152348		1629218	+1	no_errors	ENST00000409644	ensembl	human	known	70_37	missense	SNP	0.000	G
WFDC10A	140832	genome.wustl.edu	37	20	44258464	44258464	+	Silent	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr20:44258464G>A	ENST00000372643.3	+	1	300	c.12G>A	c.(10-12)caG>caA	p.Q4Q	WFDC9_ENST00000326000.1_Intron	NM_080753.2	NP_542791.1	Q9H1F0	WF10A_HUMAN	WAP four-disulfide core domain 10A	4						extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)			large_intestine(2)	2		Myeloproliferative disorder(115;0.0122)				TGGCACCCCAGACTCTGCTGC	0.562											OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													113.0	87.0	96.0					20																	44258464		2203	4300	6503	SO:0001819	synonymous_variant	140832			AL031671	CCDS13363.1	20q13.11	2013-01-21	2003-02-21	2003-02-21	ENSG00000180305	ENSG00000180305		"""WAP four-disulfide core domain containing"""	16139	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 146"""	C20orf146		12206714	Standard	NM_080753		Approved	dJ688G8.3, WAP10	uc002xoz.3	Q9H1F0	OTTHUMG00000046331	ENST00000372643.3:c.12G>A	20.37:g.44258464G>A		922	A2RRE9|Q5TGZ7	Silent	SNP	pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core	p.Q4	ENST00000372643.3	37	c.12	CCDS13363.1	20																																																																																			WFDC10A	-	NULL		0.562	WFDC10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFDC10A	HGNC	protein_coding	OTTHUMT00000106944.2	G			44258464	+1	no_errors	ENST00000372643	ensembl	human	known	70_37	silent	SNP	0.042	A
WFS1	7466	genome.wustl.edu	37	4	6302702	6302702	+	Missense_Mutation	SNP	G	G	A	rs373146435		TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr4:6302702G>A	ENST00000226760.1	+	8	1350	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	WFS1_ENST00000503569.1_Missense_Mutation_p.E394K	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	394					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|calcium ion homeostasis (GO:0055074)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|glucose homeostasis (GO:0042593)|kidney development (GO:0001822)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of programmed cell death (GO:0043069)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurological system process (GO:0050877)|olfactory behavior (GO:0042048)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of growth (GO:0045927)|positive regulation of protein metabolic process (GO:0051247)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of proteolysis (GO:0045862)|protein maturation by protein folding (GO:0022417)|protein stabilization (GO:0050821)|renal water homeostasis (GO:0003091)|response to endoplasmic reticulum stress (GO:0034976)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)	activating transcription factor binding (GO:0033613)|ATPase binding (GO:0051117)|transporter activity (GO:0005215)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GGAGCAGGCCGAGGTCAACTT	0.597																																																	0									LYS/GLU,LYS/GLU	0,4406		0,0,2203	191.0	183.0	186.0		1180,1180	4.7	1.0	4		186	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	WFS1	NM_001145853.1,NM_006005.3	56,56	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	394/891,394/891	6302702	1,13005	2203	4300	6503	SO:0001583	missense	7466			AF084481	CCDS3386.1	4p16.1	2014-06-18			ENSG00000109501	ENSG00000109501			12762	protein-coding gene	gene with protein product		606201		DFNA6, DFNA14, DFNA38		7987399, 9771706	Standard	NM_006005		Approved	DIDMOAD, WFS	uc003gix.3	O76024	OTTHUMG00000090431	ENST00000226760.1:c.1180G>A	4.37:g.6302702G>A	ENSP00000226760:p.Glu394Lys		B2R797|D3DVT1|Q8N6I3|Q9UNW6	Missense_Mutation	SNP	NULL	p.E394K	ENST00000226760.1	37	c.1180	CCDS3386.1	4	.	.	.	.	.	.	.	.	.	.	g	23.8	4.454933	0.84209	0.0	1.16E-4	ENSG00000109501	ENST00000503569;ENST00000226760	D;D	0.90133	-2.62;-2.62	4.73	4.73	0.59995	.	0.000000	0.85682	D	0.000000	D	0.94515	0.8234	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.95228	0.8340	10	0.87932	D	0	-31.9492	16.7024	0.85357	0.0:0.0:1.0:0.0	.	394	O76024	WFS1_HUMAN	K	394	ENSP00000423337:E394K;ENSP00000226760:E394K	ENSP00000226760:E394K	E	+	1	0	WFS1	6353603	1.000000	0.71417	0.996000	0.52242	0.966000	0.64601	9.067000	0.93955	2.181000	0.69327	0.556000	0.70494	GAG	WFS1	-	NULL		0.597	WFS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WFS1	HGNC	protein_coding	OTTHUMT00000206863.1	G			6302702	+1	no_errors	ENST00000226760	ensembl	human	known	70_37	missense	SNP	1.000	A
XRN1	54464	genome.wustl.edu	37	3	142075797	142075797	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:142075797C>T	ENST00000264951.4	-	31	3746	c.3629G>A	c.(3628-3630)gGa>gAa	p.G1210E	XRN1_ENST00000392981.2_Missense_Mutation_p.G1210E	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1210					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						GTTGAGGGCTCCCAAATGCCC	0.433																																																	0													166.0	160.0	162.0					3																	142075797		2203	4300	6503	SO:0001583	missense	54464			AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.3629G>A	3.37:g.142075797C>T	ENSP00000264951:p.Gly1210Glu		Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	pfam_Put_53exo,pirsf_5_3_exoribonuclease_1	p.G1210E	ENST00000264951.4	37	c.3629	CCDS3123.1	3	.	.	.	.	.	.	.	.	.	.	C	18.14	3.556870	0.65425	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.29142	1.58;1.58	5.06	3.15	0.36227	.	0.252874	0.38778	N	0.001568	T	0.42494	0.1205	L	0.57536	1.79	0.80722	D	1	D;D	0.64830	0.994;0.979	P;P	0.60236	0.871;0.722	T	0.14615	-1.0466	10	0.18276	T	0.48	-8.9315	12.6308	0.56657	0.1281:0.7477:0.1242:0.0	.	1210;1210	Q8IZH2-2;Q8IZH2	.;XRN1_HUMAN	E	1210	ENSP00000264951:G1210E;ENSP00000376707:G1210E	ENSP00000264951:G1210E	G	-	2	0	XRN1	143558487	1.000000	0.71417	1.000000	0.80357	0.654000	0.38779	3.593000	0.54001	2.343000	0.79666	0.462000	0.41574	GGA	XRN1	-	pirsf_5_3_exoribonuclease_1		0.433	XRN1-001	KNOWN	basic|CCDS	protein_coding	XRN1	HGNC	protein_coding	OTTHUMT00000354087.2	C	NM_019001		142075797	-1	no_errors	ENST00000264951	ensembl	human	known	70_37	missense	SNP	1.000	T
YAF2	10138	genome.wustl.edu	37	12	42629419	42629419	+	Intron	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr12:42629419C>T	ENST00000534854.2	-	2	220				YAF2_ENST00000442791.3_Intron|YAF2_ENST00000380788.3_Intron|PPHLN1_ENST00000549190.1_5'Flank|YAF2_ENST00000541702.2_5'UTR|YAF2_ENST00000555248.2_3'UTR|YAF2_ENST00000327791.4_Intron|YAF2_ENST00000380790.4_Intron	NM_005748.4	NP_005739.2	Q8IY57	YAF2_HUMAN	YY1 associated factor 2						negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)	8	all_cancers(12;0.000425)	Lung NSC(34;0.0402)|all_lung(34;0.057)		GBM - Glioblastoma multiforme(48;0.0514)		CACTTACTTTCAGGAACACAG	0.428																																																	0																																										SO:0001627	intron_variant	10138			U72209	CCDS31775.1, CCDS53778.1, CCDS53779.1, CCDS53780.1	12q12	2014-09-04			ENSG00000015153	ENSG00000015153			17363	protein-coding gene	gene with protein product		607534				9016636	Standard	NM_001190977		Approved		uc001rmw.3	Q8IY57	OTTHUMG00000169380	ENST00000534854.2:c.152+1981G>A	12.37:g.42629419C>T			A8K5P0|B4DFU3|G3V465|Q99710	RNA	SNP	-	NULL	ENST00000534854.2	37	NULL	CCDS31775.1	12																																																																																			YAF2	-	-		0.428	YAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	YAF2	HGNC	protein_coding	OTTHUMT00000403781.1	C			42629419	-1	no_errors	ENST00000541702	ensembl	human	known	70_37	rna	SNP	0.970	T
ZBTB3	79842	genome.wustl.edu	37	11	62520586	62520586	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr11:62520586G>A	ENST00000394807.3	-	2	826	c.701C>T	c.(700-702)cCa>cTa	p.P234L		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	234	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						TGGCTCATCTGGAGGACGGAC	0.592																																																	0													112.0	94.0	100.0					11																	62520586		2202	4299	6501	SO:0001583	missense	79842			AK027045	CCDS8034.1	11q12.3	2013-01-09				ENSG00000185670		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	22918	protein-coding gene	gene with protein product							Standard	NM_024784		Approved	FLJ23392	uc001nuz.3	Q9H5J0		ENST00000394807.3:c.701C>T	11.37:g.62520586G>A	ENSP00000378286:p.Pro234Leu			Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.P234L	ENST00000394807.3	37	c.701	CCDS8034.1	11	.	.	.	.	.	.	.	.	.	.	G	11.01	1.513320	0.27123	.	.	ENSG00000185670	ENST00000394807	T	0.13196	2.61	5.04	5.04	0.67666	.	0.716530	0.13069	N	0.416242	T	0.09024	0.0223	N	0.19112	0.55	0.09310	N	1	B	0.26935	0.164	B	0.22601	0.04	T	0.20571	-1.0271	10	0.08599	T	0.76	.	13.7592	0.62954	0.0:0.0:1.0:0.0	.	234	Q9H5J0	ZBTB3_HUMAN	L	234	ENSP00000378286:P234L	ENSP00000378286:P234L	P	-	2	0	ZBTB3	62277162	0.992000	0.36948	0.999000	0.59377	0.912000	0.54170	2.345000	0.44018	2.593000	0.87608	0.561000	0.74099	CCA	ZBTB3	-	NULL		0.592	ZBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB3	HGNC	protein_coding	OTTHUMT00000395342.1	G	NM_024784		62520586	-1	no_errors	ENST00000394807	ensembl	human	known	70_37	missense	SNP	0.145	A
ZC3H12A	80149	genome.wustl.edu	37	1	37945919	37945919	+	Silent	SNP	C	C	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr1:37945919C>A	ENST00000373087.6	+	3	588	c.472C>A	c.(472-474)Cgg>Agg	p.R158R		NM_025079.2	NP_079355.2			zinc finger CCCH-type containing 12A											NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTTCTCCTGCCGGGGCATCCT	0.632																																																	0													78.0	70.0	73.0					1																	37945919		2203	4300	6503	SO:0001819	synonymous_variant	80149				CCDS417.1	1p34.3	2012-07-05			ENSG00000163874	ENSG00000163874		"""Zinc fingers, CCCH-type domain containing"""	26259	protein-coding gene	gene with protein product	"""MCP induced protein 1"""	610562				18178554, 22055188	Standard	NM_025079		Approved	FLJ23231, MCPIP1	uc001cbb.4	Q5D1E8	OTTHUMG00000004221	ENST00000373087.6:c.472C>A	1.37:g.37945919C>A				Silent	SNP	pfam_RNase_Zc3h12	p.R158	ENST00000373087.6	37	c.472	CCDS417.1	1																																																																																			ZC3H12A	-	pfam_RNase_Zc3h12		0.632	ZC3H12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H12A	HGNC	protein_coding	OTTHUMT00000012154.2	C	NM_025079		37945919	+1	no_errors	ENST00000373082	ensembl	human	known	70_37	silent	SNP	1.000	A
ZC3H18	124245	genome.wustl.edu	37	16	88694357	88694357	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr16:88694357G>A	ENST00000301011.5	+	15	2499	c.2299G>A	c.(2299-2301)Gag>Aag	p.E767K	ZC3H18_ENST00000452588.2_Missense_Mutation_p.E791K	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	767						nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CGGTGTTAAAGAGGAAAAGCG	0.522																																					Ovarian(121;375 2276 20373 38669)												0													61.0	73.0	69.0					16																	88694357		2198	4300	6498	SO:0001583	missense	124245			BC001584	CCDS10967.1, CCDS73924.1	16q24.2-q24.3	2012-07-05			ENSG00000158545	ENSG00000158545		"""Zinc fingers, CCCH-type domain containing"""	25091	protein-coding gene	gene with protein product						17579712	Standard	NM_144604		Approved	NHN1	uc002fky.3	Q86VM9	OTTHUMG00000137679	ENST00000301011.5:c.2299G>A	16.37:g.88694357G>A	ENSP00000301011:p.Glu767Lys		Q96DG4|Q96MP7	Missense_Mutation	SNP	smart_Znf_CCCH	p.E767K	ENST00000301011.5	37	c.2299	CCDS10967.1	16	.	.	.	.	.	.	.	.	.	.	G	26.8	4.774896	0.90108	.	.	ENSG00000158545	ENST00000301011;ENST00000452588	T;T	0.35789	1.33;1.29	4.88	4.88	0.63580	.	0.108055	0.64402	D	0.000007	T	0.51873	0.1700	L	0.45581	1.43	0.54753	D	0.999986	D;D	0.71674	0.998;0.998	D;D	0.66084	0.941;0.941	T	0.44329	-0.9335	10	0.31617	T	0.26	-15.1247	18.0337	0.89292	0.0:0.0:1.0:0.0	.	791;767	E7ERS3;Q86VM9	.;ZCH18_HUMAN	K	767;791	ENSP00000301011:E767K;ENSP00000416951:E791K	ENSP00000301011:E767K	E	+	1	0	ZC3H18	87221858	1.000000	0.71417	0.347000	0.25668	0.754000	0.42855	8.044000	0.89434	2.263000	0.75096	0.491000	0.48974	GAG	ZC3H18	-	NULL		0.522	ZC3H18-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZC3H18	HGNC	protein_coding	OTTHUMT00000269168.1	G	NM_144604		88694357	+1	no_errors	ENST00000301011	ensembl	human	known	70_37	missense	SNP	1.000	A
ZFPM2	23414	genome.wustl.edu	37	8	106815372	106815372	+	Missense_Mutation	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr8:106815372C>T	ENST00000407775.2	+	8	3312	c.3062C>T	c.(3061-3063)tCa>tTa	p.S1021L	ZFPM2_ENST00000517361.1_Missense_Mutation_p.S889L|ZFPM2_ENST00000378472.4_Missense_Mutation_p.S752L|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000520492.1_Missense_Mutation_p.S889L|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	1021					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			CAGGCTTCCTCAAATGGGTGT	0.428																																																	0													65.0	62.0	63.0					8																	106815372		1935	4134	6069	SO:0001583	missense	23414			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.3062C>T	8.37:g.106815372C>T	ENSP00000384179:p.Ser1021Leu		Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S1021L	ENST00000407775.2	37	c.3062	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	C	13.13	2.145277	0.37825	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.21932	1.98;2.47;2.47;3.67	5.96	5.96	0.96718	.	0.173282	0.51477	D	0.000087	T	0.15305	0.0369	N	0.24115	0.695	0.58432	D	0.999999	P	0.39782	0.688	B	0.28849	0.095	T	0.02797	-1.1109	10	0.37606	T	0.19	.	20.4192	0.99033	0.0:1.0:0.0:0.0	.	1021	Q8WW38	FOG2_HUMAN	L	1021;889;889;752	ENSP00000384179:S1021L;ENSP00000430757:S889L;ENSP00000428720:S889L;ENSP00000367733:S752L	ENSP00000367733:S752L	S	+	2	0	ZFPM2	106884548	1.000000	0.71417	0.809000	0.32408	0.911000	0.54048	7.487000	0.81328	2.831000	0.97527	0.650000	0.86243	TCA	ZFPM2	-	NULL		0.428	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1	C			106815372	+1	no_errors	ENST00000407775	ensembl	human	known	70_37	missense	SNP	0.998	T
ZFYVE16	9765	genome.wustl.edu	37	5	79744022	79744022	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr5:79744022G>A	ENST00000338008.5	+	7	3082	c.2902G>A	c.(2902-2904)Gat>Aat	p.D968N	ZFYVE16_ENST00000510158.1_Missense_Mutation_p.D968N|ZFYVE16_ENST00000505560.1_Missense_Mutation_p.D968N	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	968					BMP signaling pathway (GO:0030509)|endosomal transport (GO:0016197)|protein targeting to lysosome (GO:0006622)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)|vesicle organization (GO:0016050)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|early endosome membrane (GO:0031901)|intracellular membrane-bounded organelle (GO:0043231)	1-phosphatidylinositol binding (GO:0005545)|metal ion binding (GO:0046872)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein transporter activity (GO:0008565)			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		ATTTACACTAGATGATGATGT	0.363																																					Melanoma(150;1452 1854 16018 17851 37292)												0													112.0	107.0	109.0					5																	79744022		2203	4300	6503	SO:0001583	missense	9765			AB002303	CCDS4050.1	5q14.1	2012-09-20			ENSG00000039319	ENSG00000039319		"""Zinc fingers, FYVE domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	20756	protein-coding gene	gene with protein product	"""endofin"", ""protein phosphatase 1, regulatory subunit 69"""	608880				11546807	Standard	NM_014733		Approved	KIAA0305, PPP1R69	uc003kgq.4	Q7Z3T8	OTTHUMG00000108178	ENST00000338008.5:c.2902G>A	5.37:g.79744022G>A	ENSP00000337159:p.Asp968Asn		O15023|Q5H9U2|Q7LAU7|Q86T69|Q8N5L3|Q8NEK3	Missense_Mutation	SNP	pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel	p.D968N	ENST00000338008.5	37	c.2902	CCDS4050.1	5	.	.	.	.	.	.	.	.	.	.	G	11.20	1.567942	0.28003	.	.	ENSG00000039319	ENST00000338008;ENST00000510158;ENST00000505560	T;T;T	0.41758	0.99;0.99;0.99	5.56	3.79	0.43588	.	0.906694	0.09490	N	0.795096	T	0.30135	0.0755	N	0.22421	0.69	0.09310	N	1	B	0.06786	0.001	B	0.09377	0.004	T	0.21690	-1.0238	10	0.29301	T	0.29	-0.859	10.273	0.43493	0.1545:0.0:0.8455:0.0	.	968	Q7Z3T8	ZFY16_HUMAN	N	968	ENSP00000337159:D968N;ENSP00000423663:D968N;ENSP00000426848:D968N	ENSP00000337159:D968N	D	+	1	0	ZFYVE16	79779778	0.572000	0.26668	0.168000	0.22838	0.580000	0.36256	3.487000	0.53222	0.834000	0.34852	0.650000	0.86243	GAT	ZFYVE16	-	pirsf_Znf_FYVE_SARA/endofin		0.363	ZFYVE16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE16	HGNC	protein_coding	OTTHUMT00000226982.2	G	NM_014733		79744022	+1	no_errors	ENST00000338008	ensembl	human	known	70_37	missense	SNP	0.011	A
ZFYVE20	64145	genome.wustl.edu	37	3	15115861	15115861	+	Missense_Mutation	SNP	G	G	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr3:15115861G>C	ENST00000253699.3	-	14	2396	c.1783C>G	c.(1783-1785)Caa>Gaa	p.Q595E	ZFYVE20_ENST00000476527.2_Missense_Mutation_p.Q595E	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	595	Necessary for the interaction with EHD1.				blood coagulation (GO:0007596)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	endosome (GO:0005768)|endosome membrane (GO:0010008)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						CTGGTGGGTTGAGTTGAGCTA	0.592																																																	0													49.0	53.0	52.0					3																	15115861		2203	4300	6503	SO:0001583	missense	64145			AY009133	CCDS2623.1	3p25.1	2014-01-15			ENSG00000131381	ENSG00000131381		"""Zinc fingers, FYVE domain containing"""	20759	protein-coding gene	gene with protein product		609511				11062261	Standard	XR_427283		Approved	Rabenosyn-5	uc003bzm.1	Q9H1K0	OTTHUMG00000129860	ENST00000253699.3:c.1783C>G	3.37:g.15115861G>C	ENSP00000253699:p.Gln595Glu		B4DWY8|C9J4P5|Q3KP30|Q59EY8|Q8NAQ1	Missense_Mutation	SNP	pfam_Rbsn,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2	p.Q595E	ENST00000253699.3	37	c.1783	CCDS2623.1	3	.	.	.	.	.	.	.	.	.	.	G	0	-2.585699	0.00128	.	.	ENSG00000131381	ENST00000253699;ENST00000476527	T;T	0.50001	0.76;0.76	5.21	1.21	0.21127	.	0.536619	0.19893	N	0.103698	T	0.15046	0.0363	N	0.02142	-0.665	0.09310	N	1	B	0.12013	0.005	B	0.12156	0.007	T	0.32079	-0.9920	10	0.05525	T	0.97	-2.1321	6.2161	0.20656	0.0739:0.3832:0.4234:0.1196	.	595	Q9H1K0	RBNS5_HUMAN	E	595	ENSP00000253699:Q595E;ENSP00000422551:Q595E	ENSP00000253699:Q595E	Q	-	1	0	ZFYVE20	15090865	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.115000	0.10741	-0.058000	0.13177	0.491000	0.48974	CAA	ZFYVE20	-	NULL		0.592	ZFYVE20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFYVE20	HGNC	protein_coding	OTTHUMT00000252102.2	G	NM_022340		15115861	-1	no_errors	ENST00000253699	ensembl	human	known	70_37	missense	SNP	0.000	C
ZNF257	113835	genome.wustl.edu	37	19	22271465	22271465	+	Missense_Mutation	SNP	C	C	G			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:22271465C>G	ENST00000594947.1	+	4	1057	c.913C>G	c.(913-915)Caa>Gaa	p.Q305E		NM_033468.2	NP_258429.2	Q9Y2Q1	ZN257_HUMAN	zinc finger protein 257	305					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TACCCTTACTCAACATAAGAG	0.393																																																	0													47.0	51.0	50.0					19																	22271465		2124	4250	6374	SO:0001583	missense	113835			AF070651	CCDS46030.1	19p12	2014-02-14			ENSG00000197134	ENSG00000197134		"""Zinc fingers, C2H2-type"", ""-"""	13498	protein-coding gene	gene with protein product		606957				10585455	Standard	NM_033468		Approved	BMZF-4	uc010ecx.3	Q9Y2Q1	OTTHUMG00000182927	ENST00000594947.1:c.913C>G	19.37:g.22271465C>G	ENSP00000470209:p.Gln305Glu		B3KPS4|E9PG34|Q8NE34	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q305E	ENST00000594947.1	37	c.913	CCDS46030.1	19	.	.	.	.	.	.	.	.	.	.	C	0.177	-1.065694	0.01934	.	.	ENSG00000197134	ENST00000435820;ENST00000397123	.	.	.	1.11	-0.71	0.11234	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13586	0.0329	N	0.05608	-0.01	0.09310	N	1	P	0.49185	0.92	B	0.43623	0.425	T	0.19192	-1.0313	8	0.14252	T	0.57	.	6.7605	0.23538	0.0:0.3569:0.6431:0.0	.	305	Q9Y2Q1	ZN257_HUMAN	E	305;277	.	ENSP00000380312:Q277E	Q	+	1	0	ZNF257	22063305	.	.	0.082000	0.20525	0.179000	0.23085	.	.	0.518000	0.28383	0.313000	0.20887	CAA	ZNF257	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF257-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF257	HGNC	protein_coding	OTTHUMT00000464382.1	C			22271465	+1	no_errors	ENST00000594947	ensembl	human	known	70_37	missense	SNP	0.251	G
ZNF286B	729288	genome.wustl.edu	37	17	18565375	18565375	+	Missense_Mutation	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr17:18565375G>A	ENST00000545289.1	-	5	1694	c.1444C>T	c.(1444-1446)Ctt>Ttt	p.L482F	ZNF286B_ENST00000285274.5_3'UTR	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	482					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|lung(1)	2						TGTTGAATAAGAGCTGATGAA	0.388																																																	0													165.0	153.0	156.0					17																	18565375		692	1591	2283	SO:0001583	missense	729288				CCDS58523.1	17p11.2	2013-01-08			ENSG00000249459	ENSG00000249459		"""Zinc fingers, C2H2-type"""	33241	protein-coding gene	gene with protein product	"""zinc finger protein 590"""		"""zinc finger protein 286-like"", ""zinc finger 286C pseudogene"""	ZNF286L, ZNF286C			Standard	NM_001145045		Approved	ZNF590	uc010vyd.1	P0CG31	OTTHUMG00000178136	ENST00000545289.1:c.1444C>T	17.37:g.18565375G>A	ENSP00000461413:p.Leu482Phe			Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L482F	ENST00000545289.1	37	c.1444	CCDS58523.1	17																																																																																			ZNF286B	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF286B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF286B	HGNC	protein_coding		G	XM_001723047		18565375	-1	no_errors	ENST00000545289	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF414	84330	genome.wustl.edu	37	19	8578212	8578212	+	Nonsense_Mutation	SNP	G	G	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:8578212G>C	ENST00000255616.8	-	2	118	c.17C>G	c.(16-18)tCa>tGa	p.S6*	ZNF414_ENST00000393927.4_Nonsense_Mutation_p.S6*	NM_032370.2	NP_115746.2	Q96IQ9	ZN414_HUMAN	zinc finger protein 414	6					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(2)	2						GATGGGCCCTGAGGGTTTCTC	0.632																																																	0													14.0	17.0	16.0					19																	8578212		2202	4299	6501	SO:0001587	stop_gained	84330			AK074191	CCDS12205.1, CCDS54211.1	19p13.2	2008-02-05				ENSG00000133250		"""Zinc fingers, C2H2-type"""	20630	protein-coding gene	gene with protein product							Standard	NM_032370		Approved	MGC15716, Zfp414	uc002mke.4	Q96IQ9		ENST00000255616.8:c.17C>G	19.37:g.8578212G>C	ENSP00000255616:p.Ser6*		A8MY94	Nonsense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S6*	ENST00000255616.8	37	c.17	CCDS12205.1	19	.	.	.	.	.	.	.	.	.	.	G	15.92	2.973916	0.53720	.	.	ENSG00000133250	ENST00000393927;ENST00000255616	.	.	.	4.2	3.1	0.35709	.	0.707951	0.11699	N	0.538191	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-7.0863	6.4626	0.21964	0.1526:0.0:0.8474:0.0	.	.	.	.	X	6	.	ENSP00000255616:S6X	S	-	2	0	ZNF414	8484212	0.001000	0.12720	0.003000	0.11579	0.100000	0.18952	0.667000	0.25112	1.033000	0.39918	0.655000	0.94253	TCA	ZNF414	-	NULL		0.632	ZNF414-002	KNOWN	basic|CCDS	protein_coding	ZNF414	HGNC	protein_coding	OTTHUMT00000460199.2	G	NM_032370		8578212	-1	no_errors	ENST00000393927	ensembl	human	known	70_37	nonsense	SNP	0.003	C
ZNF44	51710	genome.wustl.edu	37	19	12384320	12384320	+	Silent	SNP	C	C	T			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:12384320C>T	ENST00000356109.5	-	5	1012	c.894G>A	c.(892-894)gaG>gaA	p.E298E	ZNF44_ENST00000355684.5_Silent_p.E250E	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	298					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		CATACGGTTTCTCCCCAGTGT	0.393																																																	0													115.0	122.0	120.0					19																	12384320		2199	4299	6498	SO:0001819	synonymous_variant	51710			X52338	CCDS45988.1, CCDS54223.1	19p13.2	2013-01-08	2006-05-11		ENSG00000197857	ENSG00000197857		"""Zinc fingers, C2H2-type"", ""-"""	13110	protein-coding gene	gene with protein product		194542	"""zinc finger protein 58"", ""zinc finger protein 44 (KOX 7)"", ""zinc finger protein 55"""	ZNF58, ZNF55		1946370, 1505991	Standard	NM_016264		Approved	KOX7, ZNF504	uc010xmj.2	P15621	OTTHUMG00000156424	ENST00000356109.5:c.894G>A	19.37:g.12384320C>T			B4DML9|B9EGJ5|B9ZVM2|P17018|Q9ULZ7	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E298	ENST00000356109.5	37	c.894	CCDS54223.1	19																																																																																			ZNF44	-	pfscan_Znf_C2H2		0.393	ZNF44-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	ZNF44	HGNC	protein_coding	OTTHUMT00000344132.1	C	NM_016264		12384320	-1	no_errors	ENST00000393337	ensembl	human	known	70_37	silent	SNP	1.000	T
ZNF732	654254	genome.wustl.edu	37	4	266109	266109	+	Silent	SNP	G	G	A			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr4:266109G>A	ENST00000419098.1	-	4	547	c.537C>T	c.(535-537)ttC>ttT	p.F179F		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	179					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(1)|lung(2)	3						TTAGGTCTGAGAACTTCTGAA	0.338																																																	0													129.0	108.0	114.0					4																	266109		692	1591	2283	SO:0001819	synonymous_variant	654254			AK302099	CCDS46990.1	4p16.3	2014-02-12	2009-07-22		ENSG00000186777	ENSG00000186777		"""Zinc fingers, C2H2-type"", ""-"""	37138	protein-coding gene	gene with protein product							Standard	NM_001137608		Approved	FLJ59067	uc011buu.1	B4DXR9	OTTHUMG00000159883	ENST00000419098.1:c.537C>T	4.37:g.266109G>A				Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F179	ENST00000419098.1	37	c.537	CCDS46990.1	4																																																																																			ZNF732	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.338	ZNF732-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ZNF732	HGNC	protein_coding	OTTHUMT00000357937.2	G	NM_001137608		266109	-1	no_errors	ENST00000419098	ensembl	human	known	70_37	silent	SNP	0.000	A
ZNF836	162962	genome.wustl.edu	37	19	52660227	52660227	+	Missense_Mutation	SNP	G	G	C			TCGA-MY-A5BD-01A-11D-A26G-09	TCGA-MY-A5BD-10A-01D-A26G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	2a32c706-afef-4a0a-bf1e-381d1d41f1eb	20edb89b-cf05-4701-9da9-95da8e6b7038	g.chr19:52660227G>C	ENST00000322146.8	-	5	1230	c.709C>G	c.(709-711)Cag>Gag	p.Q237E	ZNF836_ENST00000597252.1_Missense_Mutation_p.Q237E|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	237					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGTACCATCTGATGGTTAATA	0.393																																																	0													72.0	75.0	74.0					19																	52660227		2142	4276	6418	SO:0001583	missense	162962			BC011784	CCDS46162.1	19q13.33	2013-01-08			ENSG00000196267	ENSG00000196267		"""Zinc fingers, C2H2-type"", ""-"""	34333	protein-coding gene	gene with protein product							Standard	NM_001102657		Approved	FLJ16287	uc010ydj.2	Q6ZNA1		ENST00000322146.8:c.709C>G	19.37:g.52660227G>C	ENSP00000325038:p.Gln237Glu			Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q237E	ENST00000322146.8	37	c.709	CCDS46162.1	19	.	.	.	.	.	.	.	.	.	.	G	10.36	1.327827	0.24080	.	.	ENSG00000196267	ENST00000322146;ENST00000396443	T	0.17854	2.25	1.64	-3.28	0.05033	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.19485	0.0468	N	0.25332	0.735	0.09310	N	1	D	0.53619	0.961	P	0.61070	0.883	T	0.14309	-1.0477	9	0.51188	T	0.08	.	6.4439	0.21865	0.0:0.3449:0.4699:0.1853	.	237	Q6ZNA1	ZN836_HUMAN	E	237;35	ENSP00000325038:Q237E	ENSP00000325038:Q237E	Q	-	1	0	ZNF836	57352039	0.008000	0.16893	0.000000	0.03702	0.008000	0.06430	0.979000	0.29500	-1.199000	0.02666	-0.535000	0.04281	CAG	ZNF836	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF836-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF836	HGNC	protein_coding	OTTHUMT00000462456.1	G	NM_001102657		52660227	-1	no_errors	ENST00000322146	ensembl	human	known	70_37	missense	SNP	0.003	C
